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 ABCA12 0 genome.wustl.edu 37 2 215855534 215855534 + Silent SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 2 215855534 215855534 G T SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known silent c.3516 p.T1172 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 tier1 - - 51 0 0.00 67 4 5.63 ABCA12 0 genome.wustl.edu 37 2 215928909 215928909 + Missense_Mutation SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 2 215928909 215928909 C T SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known missense c.197 p.G66E 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 tier1 - - 44 0 0.00 58 4 6.45 ABCA7 0 genome.wustl.edu 37 19 1046340 1046340 + Silent SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 19 1046340 1046340 C T SNP ABCA7 ENST00000263094 human ensembl 74_37 +1 known silent c.1557 p.S519 0.843 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA7 HGNC ENSG00000064687 91 0 0.00 72 4 5.26 ABCG1 0 genome.wustl.edu 37 21 43717138 43717138 + RNA SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 21 43717138 43717138 G A SNP ABCG1 ENST00000462050 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ABCG1 HGNC ENSG00000160179 tier1 - - 13 0 0.00 5 8 61.54 ACAD8 0 genome.wustl.edu 37 11 134128431 134128431 + Missense_Mutation SNP A A G TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 11 134128431 134128431 A G SNP ACAD8 ENST00000281182 human ensembl 74_37 +1 known missense c.403 p.S135G 0.987 pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACAD8 HGNC ENSG00000151498 tier1 - - 50 0 0.00 41 4 8.89 ACBD5 0 genome.wustl.edu 37 10 27507044 27507044 + Missense_Mutation SNP T T C TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 10 27507044 27507044 T C SNP ACBD5 ENST00000375888 human ensembl 74_37 -1 known missense c.721 p.K241E 0.999 pirsf_M-assoc_diazepam-bd-inh pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,pirsf_M-assoc_diazepam-bd-inh,prints_Acyl-CoA-binding_protein - no_errors ACBD5 HGNC ENSG00000107897 tier1 - - 43 0 0.00 50 4 7.41 ADAMTSL1 0 genome.wustl.edu 37 9 18775775 18775775 + Missense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 9 18775775 18775775 G T SNP ADAMTSL1 ENST00000380548 human ensembl 74_37 +1 novel missense c.2432 p.R811L 0.994 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors ADAMTSL1 HGNC ENSG00000178031 tier1 - - 43 0 0.00 55 4 6.78 ADRA1A 0 genome.wustl.edu 37 8 26614236 26614236 + Missense_Mutation SNP T T G TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 8 26614236 26614236 T G SNP ADRA1A ENST00000380581 human ensembl 74_37 -1 known missense c.944 p.K315T 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_ADRA1A_rcpt,prints_ADR_fam - no_errors ADRA1A HGNC ENSG00000120907 tier1 - - 49 0 0.00 49 5 9.26 AHCYL1 0 genome.wustl.edu 37 1 110557445 110557445 + Missense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 1 110557445 110557445 G T SNP AHCYL1 ENST00000369799 human ensembl 74_37 +1 known missense c.641 p.R214L 1.000 pfam_Adenosylhomocysteinase,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_IlvN,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase - no_errors AHCYL1 HGNC ENSG00000168710 37 0 0.00 68 5 6.85 AHI1 0 genome.wustl.edu 37 6 135784408 135784408 + Silent SNP T T C TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 6 135784408 135784408 T C SNP AHI1 ENST00000265602 human ensembl 74_37 -1 known silent c.786 p.E262 0.976 NULL pfam_WD40_repeat,pfam_SH3_domain,pfam_SH3_2,superfamily_WD40_repeat_dom,superfamily_SH3_domain,smart_WD40_repeat,smart_SH3_domain,pfscan_SH3_domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_SH3_domain - no_errors AHI1 HGNC ENSG00000135541 tier1 - - 30 0 0.00 17 8 32.00 AICDA 0 genome.wustl.edu 37 12 8759587 8759587 + Missense_Mutation SNP C C A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 12 8759587 8759587 C A SNP AICDA ENST00000229335 human ensembl 74_37 -1 known missense c.30 p.K10N 0.970 pfam_APOBEC_N pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors AICDA HGNC ENSG00000111732 tier1 - - 41 0 0.00 50 6 10.71 ALMS1 0 genome.wustl.edu 37 2 73676804 73676804 + Silent SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 2 73676804 73676804 C T SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known silent c.3147 p.Y1049 0.000 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 tier1 - - 37 0 0.00 43 4 8.51 ALOX12B 0 genome.wustl.edu 37 17 7984078 7984078 + Missense_Mutation SNP C C A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 17 7984078 7984078 C A SNP ALOX12B ENST00000319144 human ensembl 74_37 -1 known missense c.548 p.G183V 1.000 superfamily_LipOase_C pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_C,prints_LipOase_mml - no_errors ALOX12B HGNC ENSG00000179477 tier1 - - 56 0 0.00 48 4 7.69 AMER1 0 genome.wustl.edu 37 X 63410680 63410680 + Missense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 X 63410680 63410680 G T SNP AMER1 ENST00000330258 human ensembl 74_37 -1 known missense c.2487 p.H829Q 1.000 NULL pfam_Uncharacterised_FAM123 - no_errors AMER1 HGNC ENSG00000184675 tier1 - - 28 0 0.00 21 3 12.50 AMZ2P1 0 genome.wustl.edu 37 17 62969486 62969486 + RNA SNP A A T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 17 62969486 62969486 A T SNP AMZ2P1 ENST00000397713 human ensembl 74_37 -1 known rna NULL NULL 0.988 - - - no_errors AMZ2P1 HGNC ENSG00000214174 tier1 - - 52 0 0.00 73 4 5.13 ANKRD11 0 genome.wustl.edu 37 16 89354973 89354973 + Missense_Mutation SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 16 89354973 89354973 G A SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known missense c.707 p.T236M 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 39 0 0.00 33 2 5.71 ANKRD30A 0 genome.wustl.edu 37 10 37418838 37418838 + Missense_Mutation SNP C C A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 10 37418838 37418838 C A SNP ANKRD30A ENST00000361713 human ensembl 74_37 +1 known missense c.71 p.A24D 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 tier1 - - 66 0 0.00 47 38 44.71 ANXA9 0 genome.wustl.edu 37 1 150960781 150960781 + Silent SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 1 150960781 150960781 G T SNP ANXA9 ENST00000368947 human ensembl 74_37 +1 known silent c.816 p.P272 0.553 NULL pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXXXI - no_errors ANXA9 HGNC ENSG00000143412 40 0 0.00 32 2 5.88 AOC3 0 genome.wustl.edu 37 17 41003593 41003593 + Missense_Mutation SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 17 41003593 41003593 G A SNP AOC3 ENST00000308423 human ensembl 74_37 +1 known missense c.233 p.R78Q 0.045 pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_N-reg pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC3 HGNC ENSG00000131471 49 0 0.00 19 16 45.71 APOH 0 genome.wustl.edu 37 17 64224243 64224243 + Missense_Mutation SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 17 64224243 64224243 C T SNP APOH ENST00000205948 human ensembl 74_37 -1 known missense c.136 p.E46K 0.794 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_Sushi_2,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors APOH HGNC ENSG00000091583 tier1 - - 52 0 0.00 36 14 28.00 ARAP1 0 genome.wustl.edu 37 11 72438099 72438099 + Silent SNP C C A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 11 72438099 72438099 C A SNP ARAP1 ENST00000393609 human ensembl 74_37 -1 known silent c.75 p.G25 0.877 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP1 HGNC ENSG00000186635 tier1 - - 75 0 0.00 317 51 13.82 ARID1B 0 genome.wustl.edu 37 6 157528847 157528847 + Missense_Mutation SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 6 157528847 157528847 G A SNP ARID1B ENST00000367148 human ensembl 74_37 +1 known missense c.6692 p.S2231N 1.000 pfam_DUF3518,superfamily_ARM-type_fold 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 tier1 - - 46 0 0.00 49 4 7.55 ARSJ 0 genome.wustl.edu 37 4 114823556 114823556 + Missense_Mutation SNP T T G TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 4 114823556 114823556 T G SNP ARSJ ENST00000315366 human ensembl 74_37 -1 known missense c.1674 p.E558D 0.003 NULL pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSJ HGNC ENSG00000180801 tier1 - - 45 0 0.00 7 17 70.83 ASPHD2 0 genome.wustl.edu 37 22 26829738 26829738 + Missense_Mutation SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 22 26829738 26829738 G A SNP ASPHD2 ENST00000215906 human ensembl 74_37 +1 known missense c.157 p.V53M 0.889 NULL pfam_Asp_Arg_b-Hydrxlase - no_errors ASPHD2 HGNC ENSG00000128203 tier1 rs140657637 - 36 0 0.00 4 14 77.78 ASXL3 0 genome.wustl.edu 37 18 31325070 31325070 + Missense_Mutation SNP T T C TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 18 31325070 31325070 T C SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known missense c.5258 p.L1753S 0.748 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 tier1 - - 20 0 0.00 7 5 41.67 ATP13A5 0 genome.wustl.edu 37 3 193081988 193081988 + Silent SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 3 193081988 193081988 G A SNP ATP13A5 ENST00000342358 human ensembl 74_37 -1 known silent c.145 p.L49 0.209 pfam_ATPase_P-typ_Cation_typ_V,tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,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 ATP13A5 HGNC ENSG00000187527 43 0 0.00 62 4 6.06 ATP8A1 0 genome.wustl.edu 37 4 42526846 42526846 + Nonsense_Mutation SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 4 42526846 42526846 G A SNP ATP8A1 ENST00000381668 human ensembl 74_37 -1 known nonsense c.1741 p.R581* 1.000 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8A1 HGNC ENSG00000124406 tier1 - - 111 0 0.00 84 30 26.09 ATXN7L2 0 genome.wustl.edu 37 1 110029160 110029160 + Missense_Mutation SNP G G C TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 1 110029160 110029160 G C SNP ATXN7L2 ENST00000369870 human ensembl 74_37 +1 known missense c.226 p.D76H 1.000 NULL pfam_SCA7_dom - no_errors ATXN7L2 HGNC ENSG00000162650 29 0 0.00 20 3 13.04 BICD2 0 genome.wustl.edu 37 9 95481023 95481023 + Missense_Mutation SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 9 95481023 95481023 C T SNP BICD2 ENST00000356884 human ensembl 74_37 -1 known missense c.1904 p.R635H 0.996 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc - no_errors BICD2 HGNC ENSG00000185963 49 0 0.00 27 2 6.90 BMPER 0 genome.wustl.edu 37 7 34118668 34118668 + Silent SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 7 34118668 34118668 C T SNP BMPER ENST00000297161 human ensembl 74_37 +1 known silent c.1278 p.G426 0.115 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_VWF_C,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_C,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,pfscan_VWF_C - no_errors BMPER HGNC ENSG00000164619 tier1 - - 47 0 0.00 19 22 53.66 BRCA2 0 genome.wustl.edu 37 13 32912267 32912267 + Missense_Mutation SNP A A C TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 13 32912267 32912267 A C SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known missense c.3775 p.S1259R 0.004 pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 tier1 - - 18 0 0.00 29 8 21.62 BRD4 0 genome.wustl.edu 37 19 15378297 15378297 + Missense_Mutation SNP C C A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 19 15378297 15378297 C A SNP BRD4 ENST00000263377 human ensembl 74_37 -1 known missense c.489 p.E163D 1.000 superfamily_Bromodomain,smart_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD4 HGNC ENSG00000141867 tier1 - - 45 0 0.00 40 4 9.09 BRINP3 0 genome.wustl.edu 37 1 190195440 190195440 + Frame_Shift_Del DEL C C - TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 1 190195440 190195440 C - DEL BRINP3 ENST00000367462 human ensembl 74_37 -1 known frame_shift_del c.733 p.V245fs 1.000 smart_MACPF pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 tier1 43 0 0.00 23 6 20.69 BRIP1 0 genome.wustl.edu 37 17 59760671 59760671 + Missense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 17 59760671 59760671 G T SNP BRIP1 ENST00000259008 human ensembl 74_37 -1 known missense c.3736 p.P1246T 0.018 NULL pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_TIL_dom,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors BRIP1 HGNC ENSG00000136492 43 0 0.00 45 3 6.25 BTAF1 0 genome.wustl.edu 37 10 93740298 93740298 + Missense_Mutation SNP C C A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 10 93740298 93740298 C A SNP BTAF1 ENST00000265990 human ensembl 74_37 +1 known missense c.1738 p.L580M 1.000 superfamily_ARM-type_fold pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors BTAF1 HGNC ENSG00000095564 tier1 - - 53 0 0.00 60 15 20.00 C11orf16 0 genome.wustl.edu 37 11 8951033 8951033 + Missense_Mutation SNP T T C TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 11 8951033 8951033 T C SNP C11orf16 ENST00000326053 human ensembl 74_37 -1 known missense c.215 p.Q72R 0.053 NULL NULL - no_errors C11orf16 HGNC ENSG00000176029 52 0 0.00 75 4 5.06 C16orf82 0 genome.wustl.edu 37 16 27078105 27078105 + RNA SNP C C A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 16 27078105 27078105 C A SNP C16orf82 ENST00000505035 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors C16orf82 HGNC ENSG00000234186 tier1 - - 44 0 0.00 29 34 53.97 C17orf75 0 genome.wustl.edu 37 17 30665254 30665254 + Nonsense_Mutation SNP A A T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 17 30665254 30665254 A T SNP C17orf75 ENST00000225805 human ensembl 74_37 -1 known nonsense c.464 p.L155* 1.000 NULL NULL - no_errors C17orf75 HGNC ENSG00000108666 tier1 - - 48 0 0.00 54 4 6.90 C19orf44 0 genome.wustl.edu 37 19 16611880 16611880 + Missense_Mutation SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 19 16611880 16611880 G A SNP C19orf44 ENST00000221671 human ensembl 74_37 +1 known missense c.277 p.A93T 0.019 NULL NULL - no_errors C19orf44 HGNC ENSG00000105072 tier1 - - 69 0 0.00 62 4 6.06 C1orf63 0 genome.wustl.edu 37 1 25571794 25571795 + Splice_Site INS - - A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 1 25571794 25571795 - A INS C1orf63 ENST00000417642 human ensembl 74_37 -1 known splice_site_ins c.500-3_500-2 e2-2 0.972:0.056 - - - no_errors C1orf63 HGNC ENSG00000117616 tier1 30 0 0.00 28 5 15.15 C20orf112 0 genome.wustl.edu 37 20 31099209 31099209 + Missense_Mutation SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 20 31099209 31099209 G A SNP C20orf112 ENST00000201961 human ensembl 74_37 -1 known missense c.358 p.P120S 1.000 NULL NULL - no_errors C20orf112 HGNC ENSG00000197183 tier1 - - 41 0 0.00 92 5 5.15 C2orf81 0 genome.wustl.edu 37 2 74642950 74642950 + Silent SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 2 74642950 74642950 G A SNP C2orf81 ENST00000290390 human ensembl 74_37 -1 known silent c.363 p.P121 0.943 NULL NULL - no_errors C2orf81 HGNC ENSG00000159239 tier1 - - 25 0 0.00 25 14 35.90 C5orf22 0 genome.wustl.edu 37 5 31535892 31535892 + Missense_Mutation SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 5 31535892 31535892 C T SNP C5orf22 ENST00000325366 human ensembl 74_37 +1 known missense c.269 p.A90V 1.000 NULL superfamily_ICAT - no_errors C5orf22 HGNC ENSG00000082213 tier1 - - 44 0 0.00 46 4 8.00 CAB39L 0 genome.wustl.edu 37 13 49951208 49951208 + Silent SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 13 49951208 49951208 G A SNP CAB39L ENST00000347776 human ensembl 74_37 -1 known silent c.171 p.N57 0.557 pfam_Mo25,superfamily_ARM-type_fold pfam_Mo25,superfamily_ARM-type_fold - no_errors CAB39L HGNC ENSG00000102547 43 0 0.00 48 3 5.88 CACNA1E 0 genome.wustl.edu 37 1 181680102 181680103 + Frame_Shift_Del DEL AG AG - TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 1 181680102 181680103 AG - DEL CACNA1E ENST00000367573 human ensembl 74_37 +1 known frame_shift_del c.1068_1069 p.R360fs 1.000:1.000 prints_VDCCAlpha1 pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 tier1 35 0 0.00 22 2 8.33 CACNA1F 0 genome.wustl.edu 37 X 49063212 49063212 + Missense_Mutation SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 X 49063212 49063212 C T SNP CACNA1F ENST00000376265 human ensembl 74_37 -1 known missense c.5369 p.R1790H 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1F HGNC ENSG00000102001 tier1 - - 46 0 0.00 45 4 8.16 CADPS 0 genome.wustl.edu 37 3 62631400 62631400 + Missense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 3 62631400 62631400 G T SNP CADPS ENST00000383710 human ensembl 74_37 -1 known missense c.1322 p.P441Q 1.000 superfamily_C2_dom pfam_Ca-dep_secretion_activator,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC ENSG00000163618 tier1 - - 79 0 0.00 40 16 28.57 CCDC42 0 genome.wustl.edu 37 17 8638852 8638852 + Silent SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 17 8638852 8638852 C T SNP CCDC42 ENST00000293845 human ensembl 74_37 -1 known silent c.570 p.Q190 1.000 NULL NULL - no_errors CCDC42 HGNC ENSG00000161973 tier1 - - 15 0 0.00 15 4 21.05 CCDC74A 0 genome.wustl.edu 37 2 132287585 132287585 + Missense_Mutation SNP C C G TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 2 132287585 132287585 C G SNP CCDC74A ENST00000467992 human ensembl 74_37 +1 known missense c.35 p.A12G 0.004 NULL NULL - no_errors CCDC74A HGNC ENSG00000163040 tier1 - - 55 0 0.00 39 18 31.03 CCHCR1 0 genome.wustl.edu 37 6 31112472 31112472 + Missense_Mutation SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 6 31112472 31112472 G A SNP CCHCR1 ENST00000396268 human ensembl 74_37 -1 known missense c.2159 p.A720V 0.770 pfam_HCR pfam_HCR - no_errors CCHCR1 HGNC ENSG00000204536 59 0 0.00 69 4 5.48 CCHCR1 0 genome.wustl.edu 37 6 31112959 31112959 + Silent SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 6 31112959 31112959 G A SNP CCHCR1 ENST00000396268 human ensembl 74_37 -1 known silent c.1860 p.G620 1.000 pfam_HCR pfam_HCR - no_errors CCHCR1 HGNC ENSG00000204536 56 0 0.00 66 4 5.71 CD80 0 genome.wustl.edu 37 3 119263521 119263521 + Missense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 3 119263521 119263521 G T SNP CD80 ENST00000264246 human ensembl 74_37 -1 known missense c.294 p.N98K 0.929 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD80 HGNC ENSG00000121594 tier1 - - 38 0 0.00 43 5 10.42 CDH26 0 genome.wustl.edu 37 20 58567452 58567452 + Missense_Mutation SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 20 58567452 58567452 C T SNP CDH26 ENST00000244047 human ensembl 74_37 +1 known missense c.1303 p.P435S 0.774 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH26 HGNC ENSG00000124215 tier1 - - 52 0 0.00 126 21 14.19 CDK11B 0 genome.wustl.edu 37 1 1586825 1586825 + Missense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 1 1586825 1586825 G T SNP CDK11B ENST00000407249 human ensembl 74_37 -1 known missense c.225 p.D75E 1.000 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 CDK11B HGNC ENSG00000248333 tier1 - - 57 0 0.00 53 4 7.02 CELA3A 0 genome.wustl.edu 37 1 22333434 22333434 + Silent SNP C C G TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 1 22333434 22333434 C G SNP CELA3A ENST00000290122 human ensembl 74_37 +1 known silent c.426 p.A142 0.161 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 CELA3A HGNC ENSG00000142789 tier1 - - 60 0 0.00 55 7 11.29 CELSR1 0 genome.wustl.edu 37 22 46785357 46785357 + Missense_Mutation SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 22 46785357 46785357 C T SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known missense c.6385 p.A2129T 0.224 pfam_DUF3497 pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 42 0 0.00 34 2 5.56 CFHR2 0 genome.wustl.edu 37 1 196928128 196928128 + Missense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 1 196928128 196928128 G T SNP CFHR2 ENST00000367415 human ensembl 74_37 +1 known missense c.731 p.G244V 0.844 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR2 HGNC ENSG00000080910 24 0 0.00 28 2 6.67 CHD7 0 genome.wustl.edu 37 8 61761705 61761705 + Missense_Mutation SNP T T C TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 8 61761705 61761705 T C SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known missense c.5396 p.F1799S 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 42 0 0.00 38 2 5.00 CHRM2 0 genome.wustl.edu 37 7 136700814 136700814 + Missense_Mutation SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 7 136700814 136700814 C T SNP CHRM2 ENST00000320658 human ensembl 74_37 +1 known missense c.1202 p.A401V 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM2 HGNC ENSG00000181072 tier1 - - 38 0 0.00 22 6 21.43 CIC 0 genome.wustl.edu 37 19 42796302 42796302 + Missense_Mutation SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 19 42796302 42796302 C T SNP CIC ENST00000575354 human ensembl 74_37 +1 known missense c.2951 p.A984V 0.986 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 tier1 - - 84 0 0.00 45 4 8.16 CNNM2 0 genome.wustl.edu 37 10 104816695 104816695 + Missense_Mutation SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 10 104816695 104816695 G A SNP CNNM2 ENST00000369878 human ensembl 74_37 +1 known missense c.2047 p.V683I 1.000 superfamily_cNMP-bd-like pfam_DUF21,superfamily_cNMP-bd-like - no_errors CNNM2 HGNC ENSG00000148842 tier1 - - 48 0 0.00 43 9 17.31 COL14A1 0 genome.wustl.edu 37 8 121293235 121293235 + Missense_Mutation SNP G G C TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 8 121293235 121293235 G C SNP COL14A1 ENST00000297848 human ensembl 74_37 +1 known missense c.3761 p.G1254A 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 tier1 - - 79 0 0.00 76 6 7.14 COL4A3BP 0 genome.wustl.edu 37 5 74722305 74722306 + Splice_Site INS - - A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 5 74722305 74722306 - A INS COL4A3BP ENST00000380494 human ensembl 74_37 -1 known splice_site_ins c.733-3_733-2 e5-2 1.000:0.996 - - - no_errors COL4A3BP HGNC ENSG00000113163 tier1 34 0 0.00 35 3 7.89 COL5A3 0 genome.wustl.edu 37 19 10077032 10077032 + Silent SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 19 10077032 10077032 C T SNP COL5A3 ENST00000264828 human ensembl 74_37 -1 known silent c.4740 p.A1580 0.032 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 tier1 - - 52 0 0.00 44 9 16.98 COPB1 0 genome.wustl.edu 37 11 14501200 14501200 + Missense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 11 14501200 14501200 G T SNP COPB1 ENST00000249923 human ensembl 74_37 -1 known missense c.1273 p.R425S 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1 pfam_Coatomer_bsu_C,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1 - no_errors COPB1 HGNC ENSG00000129083 32 0 0.00 49 3 5.66 CPZ 0 genome.wustl.edu 37 4 8621087 8621087 + Missense_Mutation SNP C C G TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 4 8621087 8621087 C G SNP CPZ ENST00000360986 human ensembl 74_37 +1 known missense c.1702 p.P568A 1.000 superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Frizzled_dom,superfamily_Frizzled_dom,superfamily_CarboxyPept-like_regulatory,smart_Frizzled_dom,smart_Peptidase_M14,prints_Peptidase_M14,pfscan_Frizzled_dom - no_errors CPZ HGNC ENSG00000109625 tier1 - - 51 0 0.00 34 8 19.05 CRBN 0 genome.wustl.edu 37 3 3192657 3192657 + Frame_Shift_Del DEL T T - TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 3 3192657 3192657 T - DEL CRBN ENST00000231948 human ensembl 74_37 -1 known frame_shift_del c.1221 p.D408fs 1.000 NULL pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N - no_errors CRBN HGNC ENSG00000113851 tier1 39 0 0.00 28 3 9.68 CRYBG3 0 genome.wustl.edu 37 3 97617780 97617780 + Silent SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 3 97617780 97617780 G A SNP CRYBG3 ENST00000182096 human ensembl 74_37 +1 known silent c.1911 p.K637 0.998 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBG3 HGNC ENSG00000080200 tier1 - - 40 0 0.00 22 29 56.86 CRYGB 0 genome.wustl.edu 37 2 209007444 209007444 + Missense_Mutation SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 2 209007444 209007444 G A SNP CRYGB ENST00000260988 human ensembl 74_37 -1 known missense c.446 p.P149L 0.996 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,prints_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,prints_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin - no_errors CRYGB HGNC ENSG00000182187 tier1 - - 55 0 0.00 42 22 34.38 CYP4F2 0 genome.wustl.edu 37 19 15989681 15989681 + Missense_Mutation SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 19 15989681 15989681 C T SNP CYP4F2 ENST00000221700 human ensembl 74_37 -1 known missense c.1463 p.R488H 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F2 HGNC ENSG00000186115 tier1 - - 130 0 0.00 80 25 23.81 DAPK2 0 genome.wustl.edu 37 15 64275784 64275784 + Missense_Mutation SNP T T C TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 15 64275784 64275784 T C SNP DAPK2 ENST00000261891 human ensembl 74_37 -1 known missense c.262 p.T88A 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RIO-like_kinase,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 DAPK2 HGNC ENSG00000035664 tier1 - - 68 0 0.00 53 4 7.02 DBX1 0 genome.wustl.edu 37 11 20181682 20181682 + Missense_Mutation SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 11 20181682 20181682 C T SNP DBX1 ENST00000227256 human ensembl 74_37 -1 known missense c.189 p.M63I 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors DBX1 HGNC ENSG00000109851 tier1 - - 19 0 0.00 11 5 31.25 DCP2 0 genome.wustl.edu 37 5 112346477 112346477 + Missense_Mutation SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 5 112346477 112346477 C T SNP DCP2 ENST00000389063 human ensembl 74_37 +1 known missense c.1072 p.R358W 1.000 NULL pfam_mRNA_decapping_BoxA,pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors DCP2 HGNC ENSG00000172795 tier1 - - 53 0 0.00 29 25 46.30 DIDO1 0 genome.wustl.edu 37 20 61511438 61511438 + Missense_Mutation SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 20 61511438 61511438 G A SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known missense c.5870 p.P1957L 0.251 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 28 0 0.00 73 8 9.88 DLG2 0 genome.wustl.edu 37 11 83877955 83877956 + RNA INS - - T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 11 83877955 83877956 - T INS DLG2 ENST00000524941 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors DLG2 HGNC ENSG00000150672 tier1 47 0 0.00 30 2 6.25 DNAH12 0 genome.wustl.edu 37 3 57348623 57348623 + Missense_Mutation SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 3 57348623 57348623 G A SNP DNAH12 ENST00000351747 human ensembl 74_37 -1 known missense c.7957 p.H2653Y 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH12 HGNC ENSG00000174844 39 0 0.00 27 2 6.90 DNAH6 0 genome.wustl.edu 37 2 84940368 84940368 + Silent SNP C C G TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 2 84940368 84940368 C G SNP DNAH6 ENST00000237449 human ensembl 74_37 +1 known silent c.9528 p.P3176 0.935 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 tier1 - - 79 0 0.00 75 4 5.06 DNASE1L3 0 genome.wustl.edu 37 3 58178417 58178417 + Silent SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 3 58178417 58178417 G T SNP DNASE1L3 ENST00000318316 human ensembl 74_37 -1 known silent c.915 p.S305 0.834 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,pirsf_DNase_I,prints_DNase_I - no_errors DNASE1L3 HGNC ENSG00000163687 39 0 0.00 32 4 10.81 DOCK10 0 genome.wustl.edu 37 2 225657770 225657770 + Missense_Mutation SNP C C G TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 2 225657770 225657770 C G SNP DOCK10 ENST00000258390 human ensembl 74_37 -1 known missense c.5232 p.K1744N 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 37 0 0.00 44 3 6.38 DOCK3 0 genome.wustl.edu 37 3 51349978 51349978 + Silent SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 3 51349978 51349978 C T SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known silent c.3165 p.T1055 0.812 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 tier1 - - 54 0 0.00 35 8 18.60 DTNA 0 genome.wustl.edu 37 18 32395957 32395957 + Nonsense_Mutation SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 18 32395957 32395957 C T SNP DTNA ENST00000269190 human ensembl 74_37 +1 known nonsense c.688 p.R230* 1.000 pfam_EF-hand_dom_typ2,pirsf_Distrobrevin pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ - no_errors DTNA HGNC ENSG00000134769 tier1 - - 75 0 0.00 39 18 31.58 DUSP12 0 genome.wustl.edu 37 1 161719720 161719720 + Silent SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 1 161719720 161719720 G T SNP DUSP12 ENST00000367943 human ensembl 74_37 +1 known silent c.129 p.A43 0.127 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_DUSP12,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_DUSP12,pfscan_Znf_C2H2,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors DUSP12 HGNC ENSG00000081721 63 0 0.00 75 4 5.06 DUSP12 0 genome.wustl.edu 37 1 161721524 161721524 + Silent SNP C C A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 1 161721524 161721524 C A SNP DUSP12 ENST00000367943 human ensembl 74_37 +1 known silent c.411 p.P137 0.982 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_DUSP12,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_DUSP12,pfscan_Znf_C2H2,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors DUSP12 HGNC ENSG00000081721 45 0 0.00 36 2 5.26 DYNC1LI1 0 genome.wustl.edu 37 3 32578524 32578524 + Missense_Mutation SNP T T C TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 3 32578524 32578524 T C SNP DYNC1LI1 ENST00000273130 human ensembl 74_37 -1 known missense c.811 p.I271V 1.000 pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase - no_errors DYNC1LI1 HGNC ENSG00000144635 tier1 - - 71 0 0.00 24 35 59.32 ECT2 0 genome.wustl.edu 37 3 172520673 172520673 + Missense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 3 172520673 172520673 G T SNP ECT2 ENST00000427830 human ensembl 74_37 +1 known missense c.1916 p.R639L 1.000 NULL pfam_DH-domain,pfam_BRCT_dom,superfamily_DH-domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DH-domain,pfscan_BRCT_dom,pfscan_DH-domain - no_errors ECT2 HGNC ENSG00000114346 48 0 0.00 55 3 5.17 EFCAB12 0 genome.wustl.edu 37 3 129127513 129127513 + Silent SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 3 129127513 129127513 C T SNP EFCAB12 ENST00000326085 human ensembl 74_37 -1 known silent c.1224 p.P408 0.985 NULL pfscan_EF_hand_dom - no_errors EFCAB12 HGNC ENSG00000172771 43 0 0.00 52 3 5.45 EFS 0 genome.wustl.edu 37 14 23829784 23829784 + Missense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 14 23829784 23829784 G T SNP EFS ENST00000216733 human ensembl 74_37 -1 known missense c.277 p.H93N 0.016 superfamily_SH3_domain pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors EFS HGNC ENSG00000100842 98 0 0.00 73 4 5.19 EIF4H 0 genome.wustl.edu 37 7 73604164 73604164 + Missense_Mutation SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 7 73604164 73604164 C T SNP EIF4H ENST00000265753 human ensembl 74_37 +1 known missense c.325 p.R109W 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors EIF4H HGNC ENSG00000106682 52 0 0.00 69 5 6.76 ENSG00000225411 0 genome.wustl.edu 37 9 68400475 68400475 + RNA SNP T T G TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 9 68400475 68400475 T G SNP ENSG00000225411 ENST00000417843 human ensembl 74_37 -1 known rna NULL NULL 0.010 - - - no_errors RP11-764K9.1 Clone_based_vega_gene ENSG00000225411 tier1 rs75317582 - 28 0 0.00 23 4 14.81 ENSG00000235999 0 genome.wustl.edu 37 1 149287967 149287967 + RNA SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 1 149287967 149287967 G A SNP ENSG00000235999 ENST00000433084 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-403I13.8 Clone_based_vega_gene ENSG00000235999 tier1 - - 191 0 0.00 231 14 5.69 ENSG00000261037 0 genome.wustl.edu 37 5 6020309 6020309 + RNA SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 5 6020309 6020309 G T SNP ENSG00000261037 ENST00000564741 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTC-471C19.1 Clone_based_vega_gene ENSG00000261037 tier1 - - 24 0 0.00 16 6 27.27 ENSG00000261346 0 genome.wustl.edu 37 16 30500480 30500480 + RNA SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 16 30500480 30500480 C T SNP ENSG00000261346 ENST00000569459 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-297C4.2 Clone_based_vega_gene ENSG00000261346 tier1 - - 49 0 0.00 37 4 9.76 EPHA10 0 genome.wustl.edu 37 1 38185090 38185090 + Missense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 1 38185090 38185090 G T SNP EPHA10 ENST00000427468 human ensembl 74_37 -1 known missense c.2752 p.P918T 1.000 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Kinase-like_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_SAM/pointed,superfamily_Fibronectin_type3,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 EPHA10 HGNC ENSG00000183317 20 0 0.00 31 4 11.43 ERVW-1 0 genome.wustl.edu 37 7 92099506 92099506 + Missense_Mutation SNP C C A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 7 92099506 92099506 C A SNP ERVW-1 ENST00000493463 human ensembl 74_37 -1 known missense c.190 p.A64S 0.421 NULL pfam_TLV/ENV_coat_polyprotein - no_errors ERVW-1 HGNC ENSG00000242950 19 0 0.00 190 11 5.45 EXTL3 0 genome.wustl.edu 37 8 28608307 28608307 + Missense_Mutation SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 8 28608307 28608307 C T SNP EXTL3 ENST00000220562 human ensembl 74_37 +1 known missense c.2684 p.T895M 1.000 pfam_HexNAc_Trfase_a pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXTL3 HGNC ENSG00000012232 32 0 0.00 24 2 7.69 FAM154B 0 genome.wustl.edu 37 15 82575497 82575498 + RNA INS - - T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 15 82575497 82575498 - T INS FAM154B ENST00000565501 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors FAM154B HGNC ENSG00000188659 tier1 23 0 0.00 14 2 12.50 FAM194A 0 genome.wustl.edu 37 3 150396288 150396288 + Missense_Mutation SNP T T C TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 3 150396288 150396288 T C SNP FAM194A ENST00000295910 human ensembl 74_37 -1 known missense c.1165 p.K389E 0.000 NULL NULL - no_errors FAM194A HGNC ENSG00000163645 tier1 - - 28 0 0.00 48 7 12.73 FAM205A 0 genome.wustl.edu 37 9 34723557 34723557 + Missense_Mutation SNP T T C TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 9 34723557 34723557 T C SNP FAM205A ENST00000378788 human ensembl 74_37 -1 novel missense c.3680 p.K1227R 0.024 NULL NULL - no_errors FAM205A HGNC ENSG00000205108 44 0 0.00 43 3 6.52 FAM219B 0 genome.wustl.edu 37 15 75198407 75198407 + RNA SNP A A G TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 15 75198407 75198407 A G SNP FAM219B ENST00000563706 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors FAM219B HGNC ENSG00000178761 tier1 - - 11 0 0.00 2 4 66.67 FARP2 0 genome.wustl.edu 37 2 242343285 242343285 + Missense_Mutation SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 2 242343285 242343285 C T SNP FARP2 ENST00000264042 human ensembl 74_37 +1 known missense c.226 p.R76C 0.060 pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin_like pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FARP2 HGNC ENSG00000006607 39 0 0.00 51 3 5.56 FBN2 0 genome.wustl.edu 37 5 127674677 127674677 + Silent SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 5 127674677 127674677 G A SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known silent c.3420 p.C1140 0.867 pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 tier1 - - 21 0 0.00 33 8 19.51 FBXO7 0 genome.wustl.edu 37 22 32889257 32889257 + Missense_Mutation SNP G G C TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 22 32889257 32889257 G C SNP FBXO7 ENST00000266087 human ensembl 74_37 +1 known missense c.1133 p.R378P 1.000 superfamily_F-box_dom pfam_FP_dom,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO7 HGNC ENSG00000100225 tier1 - - 56 0 0.00 29 26 47.27 FCRLA 0 genome.wustl.edu 37 1 161680413 161680414 + RNA INS - - A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 1 161680413 161680414 - A INS FCRLA ENST00000470841 human ensembl 74_37 +1 known rna NULL NULL 0.003:0.001 - - - no_errors FCRLA HGNC ENSG00000132185 tier1 29 0 0.00 26 5 16.13 FGGY 0 genome.wustl.edu 37 1 60073514 60073514 + Missense_Mutation SNP C C A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 1 60073514 60073514 C A SNP FGGY ENST00000303721 human ensembl 74_37 +1 known missense c.943 p.P315T 1.000 pfam_Carb_kinase_FGGY_C,tigrfam_Carb_kinase_FGGY-rel pfam_Carb_kinase_FGGY_C,pfam_Carb_kinase_FGGY_N,tigrfam_Carb_kinase_FGGY-rel - no_errors FGGY HGNC ENSG00000172456 tier1 - - 74 0 0.00 45 34 43.04 FIGN 0 genome.wustl.edu 37 2 164467538 164467538 + Silent SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 2 164467538 164467538 C T SNP FIGN ENST00000333129 human ensembl 74_37 -1 known silent c.804 p.P268 0.948 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGN HGNC ENSG00000182263 tier1 rs202236615 - 20 0 0.00 22 15 40.54 FLJ26850 0 genome.wustl.edu 37 19 50554114 50554114 + RNA SNP T T G TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 19 50554114 50554114 T G SNP FLJ26850 ENST00000527209 human ensembl 74_37 +1 known rna NULL NULL 0.192 - - - no_errors CTD-2126E3.1 Clone_based_vega_gene ENSG00000204666 tier1 - - 80 0 0.00 62 4 6.06 FOXG1 0 genome.wustl.edu 37 14 29237633 29237633 + Missense_Mutation SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 14 29237633 29237633 C T SNP FOXG1 ENST00000313071 human ensembl 74_37 +1 known missense c.1148 p.A383V 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXG1 HGNC ENSG00000176165 tier1 - - 33 0 0.00 17 4 19.05 FREM3 0 genome.wustl.edu 37 4 144620576 144620576 + Missense_Mutation SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 4 144620576 144620576 G A SNP FREM3 ENST00000329798 human ensembl 74_37 -1 putative missense c.1253 p.P418L 0.499 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC ENSG00000183090 tier1 - - 79 0 0.00 75 18 19.35 FRG1B 0 genome.wustl.edu 37 20 29631566 29631566 + Missense_Mutation SNP A A C TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 20 29631566 29631566 A C SNP FRG1B ENST00000278882 human ensembl 74_37 +1 known missense c.362 p.K121T 0.994 pfam_FRG1 pfam_FRG1,superfamily_Actin_cross-linking - no_errors FRG1B HGNC ENSG00000149531 39 0 0.00 58 4 6.45 FRYL 0 genome.wustl.edu 37 4 48591842 48591842 + Silent SNP T T C TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 4 48591842 48591842 T C SNP FRYL ENST00000358350 human ensembl 74_37 -1 known silent c.1560 p.R520 0.929 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 tier1 - - 60 0 0.00 31 15 32.61 FTSJ3 0 genome.wustl.edu 37 17 61899383 61899383 + Missense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 17 61899383 61899383 G T SNP FTSJ3 ENST00000427159 human ensembl 74_37 -1 known missense c.1436 p.A479E 1.000 NULL pfam_rRNA_MeTfrase_Spb1_C,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_rRNA_MeTfrase_Spb1_DUF3381 - no_errors FTSJ3 HGNC ENSG00000108592 tier1 - - 31 0 0.00 55 4 6.78 FYCO1 0 genome.wustl.edu 37 3 46016794 46016794 + Missense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 3 46016794 46016794 G T SNP FYCO1 ENST00000535325 human ensembl 74_37 -1 known missense c.332 p.S111Y 0.999 pfam_Run,pfscan_Run pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors FYCO1 HGNC ENSG00000163820 56 0 0.00 50 3 5.66 GABRA6 0 genome.wustl.edu 37 5 161128522 161128522 + Missense_Mutation SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 5 161128522 161128522 C T SNP GABRA6 ENST00000274545 human ensembl 74_37 +1 known missense c.1105 p.H369Y 0.229 superfamily_Neurotrans-gated_channel_TM,prints_GABBAa6_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA6 HGNC ENSG00000145863 33 0 0.00 26 2 7.14 GBP7 0 genome.wustl.edu 37 1 89618084 89618084 + Silent SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 1 89618084 89618084 C T SNP GBP7 ENST00000294671 human ensembl 74_37 -1 known silent c.492 p.E164 0.044 pfam_Guanylate-bd_N,superfamily_P-loop_NTPase pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP7 HGNC ENSG00000213512 tier1 - - 74 0 0.00 40 16 28.57 GNA13 0 genome.wustl.edu 37 17 63049657 63049657 + Missense_Mutation SNP A A G TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 17 63049657 63049657 A G SNP GNA13 ENST00000439174 human ensembl 74_37 -1 known missense c.473 p.I158T 1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_12 - no_errors GNA13 HGNC ENSG00000120063 39 0 0.00 36 3 7.69 GOLGA2P5 0 genome.wustl.edu 37 12 100561418 100561418 + Splice_Site SNP C C A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 12 100561418 100561418 C A SNP GOLGA2P5 ENST00000421840 human ensembl 74_37 -1 known splice_site c.NULL NULL 0.827 - - - no_errors GOLGA2B Clone_based_vega_gene ENSG00000238105 tier1 - - 79 0 0.00 66 4 5.71 GOLGB1 0 genome.wustl.edu 37 3 121410616 121410616 + Missense_Mutation SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 3 121410616 121410616 G A SNP GOLGB1 ENST00000340645 human ensembl 74_37 -1 known missense c.7580 p.A2527V 1.000 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 23 0 0.00 31 4 11.43 GPN1 0 genome.wustl.edu 37 2 27855528 27855528 + Missense_Mutation SNP A A T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 2 27855528 27855528 A T SNP GPN1 ENST00000264718 human ensembl 74_37 +1 known missense c.383 p.N128I 1.000 pfam_Uncharacterised_ATP-bd,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Uncharacterised_ATP-bd,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors GPN1 HGNC ENSG00000198522 tier1 - - 69 0 0.00 54 4 6.90 GRM2 0 genome.wustl.edu 37 3 51749765 51749765 + Missense_Mutation SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 3 51749765 51749765 G A SNP GRM2 ENST00000395052 human ensembl 74_37 +1 known missense c.1976 p.R659H 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B - no_errors GRM2 HGNC ENSG00000164082 25 0 0.00 25 2 7.41 GTPBP1 0 genome.wustl.edu 37 22 39112748 39112748 + Missense_Mutation SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 22 39112748 39112748 C T SNP GTPBP1 ENST00000216044 human ensembl 74_37 +1 known missense c.577 p.R193C 1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel - no_errors GTPBP1 HGNC ENSG00000100226 tier1 - - 30 0 0.00 15 9 37.50 HECTD4 0 genome.wustl.edu 37 12 112757112 112757112 + Silent SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 12 112757112 112757112 C T SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known silent c.180 p.E60 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 tier1 - - 67 0 0.00 41 6 12.77 HLA-C 0 genome.wustl.edu 37 6 31239424 31239424 + Missense_Mutation SNP G G C TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 6 31239424 31239424 G C SNP HLA-C ENST00000383329 human ensembl 74_37 -1 known missense c.295 p.R99G 0.005 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-C HGNC ENSG00000204525 tier1 rs41549514 - 125 0 0.00 113 20 15.04 HLA-DPB1 0 genome.wustl.edu 37 6 33048643 33048643 + Missense_Mutation SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 6 33048643 33048643 C T SNP HLA-DPB1 ENST00000418931 human ensembl 74_37 +1 known missense c.295 p.R99W 0.010 pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DPB1 HGNC ENSG00000223865 tier1 rs41554314 - 121 0 0.00 150 9 5.62 HNRNPKP3 0 genome.wustl.edu 37 11 43283301 43283301 + RNA SNP T T C TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 11 43283301 43283301 T C SNP HNRNPKP3 ENST00000511537 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors HNRNPKP3 HGNC ENSG00000251557 16 0 0.00 11 4 26.67 HOXB-AS3 0 genome.wustl.edu 37 17 46673330 46673331 + RNA INS - - G TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 17 46673330 46673331 - G INS HOXB-AS3 ENST00000460041 human ensembl 74_37 +1 known rna NULL NULL 0.998:0.997 - - - no_errors HOXB-AS3 HGNC ENSG00000233101 tier1 69 0 0.00 44 9 16.98 HTR7 0 genome.wustl.edu 37 10 92509183 92509183 + Missense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 10 92509183 92509183 G T SNP HTR7 ENST00000336152 human ensembl 74_37 -1 known missense c.708 p.D236E 0.993 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT_7_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt - no_errors HTR7 HGNC ENSG00000148680 tier1 - - 37 0 0.00 55 5 8.33 HTRA1 0 genome.wustl.edu 37 10 124249032 124249032 + Missense_Mutation SNP A A G TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 10 124249032 124249032 A G SNP HTRA1 ENST00000368984 human ensembl 74_37 +1 known missense c.667 p.T223A 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,prints_Peptidase_S1C pfam_Peptidase_S1,pfam_PDZ,pfam_Kazal_dom,pfam_IGFBP-like,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_IGFBP-like,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA1 HGNC ENSG00000166033 tier1 - - 53 0 0.00 50 9 15.25 IGSF10 0 genome.wustl.edu 37 3 151164323 151164323 + Missense_Mutation SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 3 151164323 151164323 G A SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known missense c.3446 p.S1149F 0.011 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 tier1 - - 73 0 0.00 70 31 30.69 IL12RB2 0 genome.wustl.edu 37 1 67792431 67792431 + Missense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 1 67792431 67792431 G T SNP IL12RB2 ENST00000262345 human ensembl 74_37 +1 known missense c.378 p.Q126H 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_IgC2-like_lig-bd,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL12RB2 HGNC ENSG00000081985 tier1 - - 38 0 0.00 64 4 5.88 INADL 0 genome.wustl.edu 37 1 62579862 62579862 + Silent SNP T T C TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 1 62579862 62579862 T C SNP INADL ENST00000371158 human ensembl 74_37 +1 known silent c.4599 p.P1533 0.003 superfamily_PDZ,pfscan_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors INADL HGNC ENSG00000132849 70 0 0.00 60 4 6.15 INSR 0 genome.wustl.edu 37 19 7166284 7166284 + Missense_Mutation SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 19 7166284 7166284 C T SNP INSR ENST00000302850 human ensembl 74_37 -1 known missense c.1742 p.R581Q 0.861 pirsf_Tyr_kinase_insulin-like_rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSR HGNC ENSG00000171105 tier1 - - 42 0 0.00 22 5 18.52 INTS8 0 genome.wustl.edu 37 8 95850846 95850846 + Missense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 8 95850846 95850846 G T SNP INTS8 ENST00000523731 human ensembl 74_37 +1 known missense c.1017 p.Q339H 1.000 NULL NULL - no_errors INTS8 HGNC ENSG00000164941 29 0 0.00 30 3 9.09 ITGAV 0 genome.wustl.edu 37 2 187529245 187529245 + Silent SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 2 187529245 187529245 G T SNP ITGAV ENST00000261023 human ensembl 74_37 +1 known silent c.1950 p.G650 0.997 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGAV HGNC ENSG00000138448 tier1 - - 49 0 0.00 54 4 6.78 ITGAX 0 genome.wustl.edu 37 16 31390952 31390952 + Silent SNP C C A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 16 31390952 31390952 C A SNP ITGAX ENST00000268296 human ensembl 74_37 +1 known silent c.2853 p.A951 0.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAX HGNC ENSG00000140678 tier1 - - 47 0 0.00 52 14 21.21 IZUMO4 0 genome.wustl.edu 37 19 2098979 2098979 + Missense_Mutation SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 19 2098979 2098979 C T SNP IZUMO4 ENST00000395301 human ensembl 74_37 +1 known missense c.559 p.R187C 0.000 NULL NULL - no_errors IZUMO4 HGNC ENSG00000099840 tier1 - - 39 0 0.00 46 4 8.00 JAKMIP3 0 genome.wustl.edu 37 10 133930889 133930889 + Missense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 10 133930889 133930889 G T SNP JAKMIP3 ENST00000298622 human ensembl 74_37 +1 known missense c.444 p.E148D 0.984 NULL NULL - no_errors JAKMIP3 HGNC ENSG00000188385 tier1 - - 35 0 0.00 58 10 14.71 KAT6A 0 genome.wustl.edu 37 8 41838370 41838370 + Missense_Mutation SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 8 41838370 41838370 G A SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known missense c.901 p.P301S 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger 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 tier1 - - 56 0 0.00 36 4 10.00 KCNC3 0 genome.wustl.edu 37 19 50826458 50826458 + Silent SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 19 50826458 50826458 C T SNP KCNC3 ENST00000477616 human ensembl 74_37 -1 known silent c.1752 p.P584 0.003 prints_K_chnl_volt-dep_Kv3.3 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_K_chnl_volt-dep_Kv3_ID,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3.3,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC3 HGNC ENSG00000131398 tier1 - - 22 0 0.00 15 7 31.82 KCTD1 0 genome.wustl.edu 37 18 24056534 24056534 + Missense_Mutation SNP C C G TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 18 24056534 24056534 C G SNP KCTD1 ENST00000417602 human ensembl 74_37 -1 known missense c.2078 p.R693T 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_DUF3504,pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD1 HGNC ENSG00000134504 50 0 0.00 35 2 5.41 KDM4C 0 genome.wustl.edu 37 9 7011779 7011779 + Missense_Mutation SNP C C G TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 9 7011779 7011779 C G SNP KDM4C ENST00000381309 human ensembl 74_37 +1 known missense c.1868 p.T623R 0.879 NULL pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4C HGNC ENSG00000107077 59 0 0.00 31 2 6.06 KIAA1199 0 genome.wustl.edu 37 15 81201538 81201538 + Missense_Mutation SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 15 81201538 81201538 G A SNP KIAA1199 ENST00000220244 human ensembl 74_37 +1 known missense c.1688 p.G563D 0.998 superfamily_Pectin_lyase_fold/virulence pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors KIAA1199 HGNC ENSG00000103888 tier1 - - 54 0 0.00 63 10 13.70 KIAA2018 0 genome.wustl.edu 37 3 113378493 113378493 + Nonsense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 3 113378493 113378493 G T SNP KIAA2018 ENST00000316407 human ensembl 74_37 -1 known nonsense c.2036 p.S679* 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 43 0 0.00 50 3 5.66 KLF11 0 genome.wustl.edu 37 2 10192515 10192515 + Missense_Mutation SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 2 10192515 10192515 C T SNP KLF11 ENST00000305883 human ensembl 74_37 +1 known missense c.1420 p.R474W 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF11 HGNC ENSG00000172059 17 0 0.00 21 2 8.70 KMT2E 0 genome.wustl.edu 37 7 104746087 104746087 + Missense_Mutation SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 7 104746087 104746087 G A SNP KMT2E ENST00000257745 human ensembl 74_37 +1 known missense c.2398 p.E800K 1.000 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors KMT2E HGNC ENSG00000005483 42 0 0.00 34 2 5.41 KRT27 0 genome.wustl.edu 37 17 38933254 38933254 + Silent SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 17 38933254 38933254 G A SNP KRT27 ENST00000301656 human ensembl 74_37 -1 known silent c.1377 p.S459 0.773 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT27 HGNC ENSG00000171446 tier1 - - 63 0 0.00 15 27 64.29 KRTAP1-5 0 genome.wustl.edu 37 17 39183284 39183284 + Missense_Mutation SNP T T C TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 17 39183284 39183284 T C SNP KRTAP1-5 ENST00000361883 human ensembl 74_37 -1 known missense c.124 p.T42A 0.000 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP1-5 HGNC ENSG00000221852 tier1 - - 156 0 0.00 122 22 15.28 L3MBTL3 0 genome.wustl.edu 37 6 130415492 130415492 + Silent SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 6 130415492 130415492 G T SNP L3MBTL3 ENST00000361794 human ensembl 74_37 +1 known silent c.1716 p.A572 0.015 NULL pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL3 HGNC ENSG00000198945 50 0 0.00 55 4 6.78 LCT 0 genome.wustl.edu 37 2 136547232 136547232 + Frame_Shift_Del DEL G G - TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 2 136547232 136547232 G - DEL LCT ENST00000264162 human ensembl 74_37 -1 known frame_shift_del c.5472 p.A1826fs 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 tier1 46 0 0.00 30 2 6.25 LIMA1 0 genome.wustl.edu 37 12 50615967 50615967 + Missense_Mutation SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 12 50615967 50615967 G A SNP LIMA1 ENST00000394943 human ensembl 74_37 -1 known missense c.467 p.T156I 0.004 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMA1 HGNC ENSG00000050405 tier1 - - 61 0 0.00 70 4 5.41 LINGO2 0 genome.wustl.edu 37 9 27950045 27950045 + Missense_Mutation SNP T T C TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 9 27950045 27950045 T C SNP LINGO2 ENST00000308675 human ensembl 74_37 -1 known missense c.625 p.K209E 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO2 HGNC ENSG00000174482 tier1 - - 29 0 0.00 11 6 35.29 LOC100286922 0 genome.wustl.edu 37 2 234663738 234663738 + RNA SNP A A T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 2 234663738 234663738 A T SNP LOC100286922 ENST00000389816 human ensembl 74_37 -1 known rna NULL NULL 0.995 - - - no_errors AC114812.5 Clone_based_vega_gene ENSG00000178836 tier1 - - 77 0 0.00 46 10 17.86 LOC100286922 0 genome.wustl.edu 37 2 234663739 234663739 + RNA SNP C C G TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 2 234663739 234663739 C G SNP LOC100286922 ENST00000389816 human ensembl 74_37 -1 known rna NULL NULL 0.994 - - - no_errors AC114812.5 Clone_based_vega_gene ENSG00000178836 tier1 - - 75 0 0.00 46 10 17.86 LOC101928729 0 genome.wustl.edu 37 17 18284334 18284334 + RNA SNP T T A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 17 18284334 18284334 T A SNP LOC101928729 ENST00000579352 human ensembl 74_37 -1 known rna NULL NULL 0.017 - - - no_errors RP1-37N7.1 Clone_based_vega_gene ENSG00000264177 tier1 - - 73 0 0.00 90 5 5.26 LOC645752 0 genome.wustl.edu 37 15 78211653 78211653 + RNA SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 15 78211653 78211653 C T SNP LOC645752 ENST00000567226 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors RP11-114H24.2 Clone_based_vega_gene ENSG00000260776 tier1 - - 174 0 0.00 71 100 58.14 LPHN3 0 genome.wustl.edu 37 4 62813888 62813888 + Missense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 4 62813888 62813888 G T SNP LPHN3 ENST00000507625 human ensembl 74_37 +1 known missense c.2699 p.W900L 1.000 pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 tier1 - - 21 0 0.00 24 4 14.29 LRRK2 0 genome.wustl.edu 37 12 40634305 40634305 + Nonsense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 12 40634305 40634305 G T SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known nonsense c.592 p.E198* 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 tier1 - - 34 0 0.00 23 7 23.33 LTK 0 genome.wustl.edu 37 15 41805206 41805206 + Silent SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 15 41805206 41805206 G T SNP LTK ENST00000263800 human ensembl 74_37 -1 known silent c.156 p.I52 0.000 NULL 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 - no_errors LTK HGNC ENSG00000062524 75 0 0.00 65 4 5.80 LYST 0 genome.wustl.edu 37 1 235896893 235896893 + Frame_Shift_Del DEL T T - TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 1 235896893 235896893 T - DEL LYST ENST00000389793 human ensembl 74_37 -1 known frame_shift_del c.8711 p.K2904fs 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 tier1 34 0 0.00 35 2 5.41 MAP2K4 0 genome.wustl.edu 37 17 12044509 12044509 + Missense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 17 12044509 12044509 G T SNP MAP2K4 ENST00000415385 human ensembl 74_37 +1 known missense c.1165 p.A389S 1.000 superfamily_Kinase-like_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 MAP2K4 HGNC ENSG00000065559 25 0 0.00 37 3 7.50 MAPK8IP1 0 genome.wustl.edu 37 11 45925666 45925666 + Silent SNP T T C TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 11 45925666 45925666 T C SNP MAPK8IP1 ENST00000241014 human ensembl 74_37 +1 known silent c.1620 p.P540 0.554 pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_PTB/PI_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_SH3_domain - no_errors MAPK8IP1 HGNC ENSG00000121653 tier1 - - 33 0 0.00 14 3 17.65 MAPK8IP3 0 genome.wustl.edu 37 16 1818620 1818620 + Silent SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 16 1818620 1818620 C T SNP MAPK8IP3 ENST00000250894 human ensembl 74_37 +1 known silent c.3882 p.F1294 1.000 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors MAPK8IP3 HGNC ENSG00000138834 tier1 - - 36 0 0.00 40 11 21.57 MARVELD2 0 genome.wustl.edu 37 5 68715895 68715895 + Nonsense_Mutation SNP C C A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 5 68715895 68715895 C A SNP MARVELD2 ENST00000325631 human ensembl 74_37 +1 known nonsense c.683 p.S228* 0.350 pfam_Marvel pfam_Occludin_RNApol2_elong_fac_ELL,pfam_Marvel - no_errors MARVELD2 HGNC ENSG00000152939 tier1 - - 62 0 0.00 36 18 33.33 MCM6 0 genome.wustl.edu 37 2 136614333 136614333 + Missense_Mutation SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 2 136614333 136614333 C T SNP MCM6 ENST00000264156 human ensembl 74_37 -1 known missense c.1591 p.D531N 1.000 pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM6,prints_MCM_DNA-dep_ATPase - no_errors MCM6 HGNC ENSG00000076003 62 0 0.00 50 3 5.66 MGA 0 genome.wustl.edu 37 15 42042214 42042214 + Nonsense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 15 42042214 42042214 G T SNP MGA ENST00000219905 human ensembl 74_37 +1 known nonsense c.6409 p.E2137* 0.872 NULL pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 30 0 0.00 23 2 8.00 MMP16 0 genome.wustl.edu 37 8 89339430 89339430 + Silent SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 8 89339430 89339430 G A SNP MMP16 ENST00000286614 human ensembl 74_37 -1 known silent c.6 p.I2 1.000 NULL pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP16 HGNC ENSG00000156103 tier1 - - 62 0 0.00 39 5 11.36 MRGPRX2 0 genome.wustl.edu 37 11 19077360 19077360 + Missense_Mutation SNP A A G TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 11 19077360 19077360 A G SNP MRGPRX2 ENST00000329773 human ensembl 74_37 -1 known missense c.590 p.V197A 0.063 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX2 HGNC ENSG00000183695 tier1 - - 20 0 0.00 22 10 31.25 MRPS25 0 genome.wustl.edu 37 3 15091444 15091444 + Splice_Site SNP T T A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 3 15091444 15091444 T A SNP MRPS25 ENST00000420267 human ensembl 74_37 -1 known splice_site c.333-2 e4-2 0.001 - - - no_errors MRPS25 HGNC ENSG00000131368 tier1 - - 30 0 0.00 27 4 12.90 MT-ND5 0 genome.wustl.edu 37 MT 12991 12991 + Missense_Mutation SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 MT 12991 12991 G A SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.655 p.A219T NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 tier1 - - 15 0 0.00 2 4 66.67 MTHFR 0 genome.wustl.edu 37 1 11852371 11852371 + Nonsense_Mutation SNP G G C TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 1 11852371 11852371 G C SNP MTHFR ENST00000376583 human ensembl 74_37 -1 known nonsense c.1719 p.Y573* 0.078 NULL pfam_Mehydrof_redctse,tigrfam_Fadh2_euk - no_errors MTHFR HGNC ENSG00000177000 tier1 - - 58 0 0.00 43 15 25.86 MUC16 0 genome.wustl.edu 37 19 9063073 9063073 + Missense_Mutation SNP T T G TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 19 9063073 9063073 T G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.24373 p.K8125Q 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 81 0 0.00 50 15 23.08 MUC19 0 genome.wustl.edu 37 12 40811954 40811954 + Silent SNP T T C TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 12 40811954 40811954 T C SNP MUC19 ENST00000425730 human ensembl 74_37 +1 putative silent c.279 p.Y93 0.000 NULL pfam_VWF_type-D - no_errors MUC19 HGNC ENSG00000205592 tier1 - - 21 0 0.00 18 8 30.77 MURC 0 genome.wustl.edu 37 9 103348507 103348507 + Missense_Mutation SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 9 103348507 103348507 G A SNP MURC ENST00000307584 human ensembl 74_37 +1 known missense c.869 p.R290K 0.699 NULL NULL - no_errors MURC HGNC ENSG00000170681 tier1 - - 44 0 0.00 67 12 15.19 MXRA5 0 genome.wustl.edu 37 X 3238108 3238108 + Missense_Mutation SNP A A G TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 X 3238108 3238108 A G SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known missense c.5618 p.F1873S 0.746 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 tier1 - - 44 0 0.00 28 21 42.86 MXRA5 0 genome.wustl.edu 37 X 3240440 3240440 + Missense_Mutation SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 X 3240440 3240440 G A SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known missense c.3286 p.P1096S 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 39 0 0.00 67 4 5.63 MXRA7 0 genome.wustl.edu 37 17 74684639 74684639 + Missense_Mutation SNP C C A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 17 74684639 74684639 C A SNP MXRA7 ENST00000592148 human ensembl 74_37 -1 putative missense c.91 p.D31Y 0.001 NULL NULL - no_errors MXRA7 HGNC ENSG00000182534 tier1 - - 37 0 0.00 37 4 9.76 MYH10 0 genome.wustl.edu 37 17 8381682 8381682 + Nonsense_Mutation SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 17 8381682 8381682 G A SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known nonsense c.5650 p.R1884* 0.998 pfam_Myosin_tail,superfamily_HR1_rho-bd pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 44 0 0.00 34 2 5.56 MYH13 0 genome.wustl.edu 37 17 10265724 10265724 + Missense_Mutation SNP C C A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 17 10265724 10265724 C A SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known missense c.301 p.A101S 0.842 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 tier1 - - 110 0 0.00 99 17 14.53 MYLK3 0 genome.wustl.edu 37 16 46771735 46771735 + Missense_Mutation SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 16 46771735 46771735 G A SNP MYLK3 ENST00000394809 human ensembl 74_37 -1 known missense c.889 p.P297S 0.000 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 MYLK3 HGNC ENSG00000140795 tier1 - - 39 0 0.00 47 5 9.62 MYO3A 0 genome.wustl.edu 37 10 26462823 26462823 + Missense_Mutation SNP A A C TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 10 26462823 26462823 A C SNP MYO3A ENST00000265944 human ensembl 74_37 +1 known missense c.3630 p.E1210D 0.592 superfamily_P-loop_NTPase pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 tier1 - - 19 0 0.00 17 5 22.73 NAT10 0 genome.wustl.edu 37 11 34144020 34144020 + Missense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 11 34144020 34144020 G T SNP NAT10 ENST00000257829 human ensembl 74_37 +1 known missense c.795 p.L265F 1.000 superfamily_P-loop_NTPase pfam_Helicase_dom,pfam_DUF1726,superfamily_Acyl_CoA_acyltransferase,superfamily_P-loop_NTPase,pfscan_GNAT_dom - no_errors NAT10 HGNC ENSG00000135372 45 0 0.00 66 4 5.71 NBEA 0 genome.wustl.edu 37 13 35644148 35644148 + Missense_Mutation SNP A A C TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 13 35644148 35644148 A C SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.1343 p.N448T 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 tier1 - - 169 0 0.00 187 46 19.74 NCAM2 0 genome.wustl.edu 37 21 22710769 22710769 + Missense_Mutation SNP T T A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 21 22710769 22710769 T A SNP NCAM2 ENST00000400546 human ensembl 74_37 +1 known missense c.959 p.L320H 0.988 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,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,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 tier1 - - 39 0 0.00 15 9 37.50 NDUFB8 0 genome.wustl.edu 37 10 102289559 102289559 + Missense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 10 102289559 102289559 G T SNP NDUFB8 ENST00000299166 human ensembl 74_37 -1 known missense c.50 p.A17E 0.646 pfam_NDUFB8,pirsf_NADH_UbQ_OxRdtase_b-cplx_su8 pfam_NDUFB8,pirsf_NADH_UbQ_OxRdtase_b-cplx_su8 - no_errors NDUFB8 HGNC ENSG00000166136 tier1 - - 46 0 0.00 78 5 6.02 NDUFS2 0 genome.wustl.edu 37 1 161172165 161172165 + RNA SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 1 161172165 161172165 G T SNP NDUFS2 ENST00000467295 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors NDUFS2 HGNC ENSG00000158864 tier1 - - 80 0 0.00 62 4 6.06 NEGR1 0 genome.wustl.edu 37 1 71873192 71873192 + Nonsense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 1 71873192 71873192 G T SNP NEGR1 ENST00000357731 human ensembl 74_37 -1 known nonsense c.1002 p.Y334* 1.000 NULL 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 tier1 - - 56 0 0.00 61 16 20.78 NELL2 0 genome.wustl.edu 37 12 45000977 45000977 + Silent SNP G G C TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 12 45000977 45000977 G C SNP NELL2 ENST00000437801 human ensembl 74_37 -1 known silent c.1788 p.G596 1.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL2 HGNC ENSG00000184613 38 0 0.00 49 3 5.77 NEU4 0 genome.wustl.edu 37 2 242758151 242758151 + Missense_Mutation SNP T T C TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 2 242758151 242758151 T C SNP NEU4 ENST00000325935 human ensembl 74_37 +1 known missense c.1271 p.V424A 1.000 superfamily_Sialidases superfamily_Sialidases - no_errors NEU4 HGNC ENSG00000204099 tier1 - - 136 0 0.00 99 23 18.85 NID1 0 genome.wustl.edu 37 1 236192981 236192981 + Missense_Mutation SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 1 236192981 236192981 C T SNP NID1 ENST00000264187 human ensembl 74_37 -1 known missense c.1607 p.R536Q 1.000 pfam_G2_nidogen/fibulin_G2F,superfamily_GFP,smart_G2_nidogen/fibulin_G2F,pfscan_G2_nidogen/fibulin_G2F 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_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,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 NID1 HGNC ENSG00000116962 tier1 - - 39 0 0.00 21 15 41.67 NIPBL 0 genome.wustl.edu 37 5 36985224 36985224 + Missense_Mutation SNP A A G TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 5 36985224 36985224 A G SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known missense c.1942 p.T648A 0.992 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 28 0 0.00 32 2 5.88 NPAS4 0 genome.wustl.edu 37 11 66191636 66191636 + Silent SNP T T G TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 11 66191636 66191636 T G SNP NPAS4 ENST00000311034 human ensembl 74_37 +1 known silent c.1275 p.P425 0.853 NULL pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors NPAS4 HGNC ENSG00000174576 22 0 0.00 52 8 13.33 NPHS1 0 genome.wustl.edu 37 19 36339237 36339237 + Silent SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 19 36339237 36339237 G A SNP NPHS1 ENST00000378910 human ensembl 74_37 -1 known silent c.1233 p.N411 0.677 pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NPHS1 HGNC ENSG00000161270 tier1 - - 53 0 0.00 23 13 35.14 NRXN1 0 genome.wustl.edu 37 2 50147953 50147953 + RNA SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 2 50147953 50147953 G A SNP NRXN1 ENST00000484192 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors NRXN1 HGNC ENSG00000179915 tier1 - - 32 0 0.00 13 6 31.58 NUMA1 0 genome.wustl.edu 37 11 71717113 71717113 + Missense_Mutation SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 11 71717113 71717113 G A SNP NUMA1 ENST00000393695 human ensembl 74_37 -1 known missense c.5660 p.S1887F 1.000 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 tier1 - - 27 0 0.00 78 7 8.24 NUP210L 0 genome.wustl.edu 37 1 154042813 154042813 + Missense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 1 154042813 154042813 G T SNP NUP210L ENST00000368559 human ensembl 74_37 -1 known missense c.2490 p.F830L 0.210 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 tier1 - - 48 0 0.00 45 24 34.78 NUPL1 0 genome.wustl.edu 37 13 25911128 25911128 + Missense_Mutation SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 13 25911128 25911128 G A SNP NUPL1 ENST00000381736 human ensembl 74_37 +1 known missense c.1490 p.G497D 1.000 NULL NULL - no_errors NUPL1 HGNC ENSG00000139496 44 0 0.00 58 4 6.45 NXF2B 0 genome.wustl.edu 37 X 101623934 101623934 + Silent SNP A A G TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 X 101623934 101623934 A G SNP NXF2B ENST00000372749 human ensembl 74_37 -1 known silent c.543 p.S181 0.000 pfam_Tap_RNA-bd pfam_Tap_RNA-bd,pfam_TAP_C_dom,pfam_NTF2,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors NXF2B HGNC ENSG00000185945 tier1 - - 12 0 0.00 5 3 37.50 OR4A5 0 genome.wustl.edu 37 11 51411684 51411684 + Missense_Mutation SNP T T A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 11 51411684 51411684 T A SNP OR4A5 ENST00000319760 human ensembl 74_37 -1 known missense c.712 p.S238C 0.992 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 OR4A5 HGNC ENSG00000221840 51 0 0.00 24 2 7.69 OR4H6P 0 genome.wustl.edu 37 15 22345668 22345668 + RNA SNP A A T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 15 22345668 22345668 A T SNP OR4H6P ENST00000603819 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors OR4H6P HGNC ENSG00000261277 tier1 rs76270326 - 11 0 0.00 2 5 71.43 OR5B3 0 genome.wustl.edu 37 11 58170641 58170641 + Missense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 11 58170641 58170641 G T SNP OR5B3 ENST00000309403 human ensembl 74_37 -1 known missense c.242 p.A81D 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5B3 HGNC ENSG00000172769 63 0 0.00 35 2 5.41 OR8B2 0 genome.wustl.edu 37 11 124252550 124252550 + Silent SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 11 124252550 124252550 G T SNP OR8B2 ENST00000375013 human ensembl 74_37 -1 known silent c.690 p.S230 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8B2 HGNC ENSG00000204293 tier1 - - 31 0 0.00 23 5 17.86 PADI1 0 genome.wustl.edu 37 1 17556668 17556668 + Missense_Mutation SNP C C G TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 1 17556668 17556668 C G SNP PADI1 ENST00000375471 human ensembl 74_37 +1 known missense c.1018 p.P340A 0.893 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI1 HGNC ENSG00000142623 tier1 - - 44 0 0.00 48 13 21.31 PADI6 0 genome.wustl.edu 37 1 17720864 17720864 + RNA SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 1 17720864 17720864 G T SNP PADI6 ENST00000358481 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors PADI6 HGNC ENSG00000256049 tier1 - - 48 0 0.00 43 4 8.51 PAPD7 0 genome.wustl.edu 37 5 6746462 6746462 + Missense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 5 6746462 6746462 G T SNP PAPD7 ENST00000230859 human ensembl 74_37 +1 known missense c.631 p.A211S 1.000 pfam_PAP_assoc pfam_PAP_assoc,pfam_Nucleotidyltransferase - no_errors PAPD7 HGNC ENSG00000112941 56 0 0.00 55 4 6.78 PARP1 0 genome.wustl.edu 37 1 226549886 226549886 + RNA DEL T T - TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 1 226549886 226549886 T - DEL PARP1 ENST00000491816 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors PARP1 HGNC ENSG00000143799 tier1 28 0 0.00 24 3 11.11 PCDHGB6 0 genome.wustl.edu 37 5 140788747 140788747 + Silent SNP T T A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 5 140788747 140788747 T A SNP PCDHGB6 ENST00000520790 human ensembl 74_37 +1 known silent c.978 p.G326 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB6 HGNC ENSG00000253305 tier1 - - 35 0 0.00 36 16 30.77 PCNT 0 genome.wustl.edu 37 21 47819581 47819581 + Silent SNP T T C TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 21 47819581 47819581 T C SNP PCNT ENST00000359568 human ensembl 74_37 +1 known silent c.4662 p.D1554 0.682 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 tier1 - - 51 0 0.00 4 27 87.10 PDE10A 0 genome.wustl.edu 37 6 165801869 165801869 + Missense_Mutation SNP T T G TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 6 165801869 165801869 T G SNP PDE10A ENST00000539869 human ensembl 74_37 -1 known missense c.1730 p.K577T 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE10A HGNC ENSG00000112541 tier1 - - 47 0 0.00 15 14 48.28 PDE6A 0 genome.wustl.edu 37 5 149323979 149323979 + Silent SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 5 149323979 149323979 G A SNP PDE6A ENST00000255266 human ensembl 74_37 -1 known silent c.258 p.C86 1.000 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6A HGNC ENSG00000132915 tier1 - - 24 0 0.00 15 3 16.67 PDZRN4 0 genome.wustl.edu 37 12 41957441 41957441 + Missense_Mutation SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 12 41957441 41957441 C T SNP PDZRN4 ENST00000402685 human ensembl 74_37 +1 known missense c.1457 p.P486L 1.000 superfamily_PDZ,smart_PDZ pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors PDZRN4 HGNC ENSG00000165966 25 0 0.00 33 2 5.71 PER1 0 genome.wustl.edu 37 17 8050700 8050700 + Splice_Site SNP C C A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 17 8050700 8050700 C A SNP PER1 ENST00000317276 human ensembl 74_37 -1 known splice_site c.1498-1 e12-1 0.998 - - - no_errors PER1 HGNC ENSG00000179094 52 0 0.00 54 4 6.90 PEX11B 0 genome.wustl.edu 37 1 145522905 145522905 + Nonsense_Mutation SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 1 145522905 145522905 C T SNP PEX11B ENST00000369306 human ensembl 74_37 +1 known nonsense c.766 p.R256* 1.000 NULL pfam_PEX11 - no_errors PEX11B HGNC ENSG00000131779 11 0 0.00 23 3 11.54 PF4V1 0 genome.wustl.edu 37 4 74719825 74719825 + Missense_Mutation SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 4 74719825 74719825 C T SNP PF4V1 ENST00000226524 human ensembl 74_37 +1 known missense c.301 p.H101Y 0.021 superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC - no_errors PF4V1 HGNC ENSG00000109272 tier1 - - 12 0 0.00 29 10 25.64 PHLDB1 0 genome.wustl.edu 37 11 118502746 118502746 + Missense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 11 118502746 118502746 G T SNP PHLDB1 ENST00000361417 human ensembl 74_37 +1 known missense c.2217 p.Q739H 1.000 NULL pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB1 HGNC ENSG00000019144 34 0 0.00 38 3 7.32 PIK3C2B 0 genome.wustl.edu 37 1 204425008 204425008 + Missense_Mutation SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 1 204425008 204425008 C T SNP PIK3C2B ENST00000367187 human ensembl 74_37 -1 known missense c.1919 p.R640H 1.000 superfamily_C2_dom,smart_PI3K_C2_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2B HGNC ENSG00000133056 tier1 - - 31 0 0.00 33 4 10.81 PKD1 0 genome.wustl.edu 37 16 2144123 2144123 + Nonsense_Mutation SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 16 2144123 2144123 G A SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known nonsense c.10588 p.Q3530* 0.000 NULL pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 tier1 - - 11 0 0.00 12 7 36.84 PKD1 0 genome.wustl.edu 37 16 2148015 2148015 + RNA SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 16 2148015 2148015 G A SNP PKD1 ENST00000566784 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors PKD1 HGNC ENSG00000008710 tier1 rs4018144 - 155 0 0.00 133 47 26.11 PKHD1 0 genome.wustl.edu 37 6 51503711 51503711 + Nonsense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 6 51503711 51503711 G T SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known nonsense c.11442 p.Y3814* 1.000 NULL pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 tier1 - - 57 0 0.00 63 4 5.97 PLA2G4E 0 genome.wustl.edu 37 15 42292154 42292154 + Silent SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 15 42292154 42292154 G T SNP PLA2G4E ENST00000413860 human ensembl 74_37 -1 known silent c.810 p.L270 0.086 NULL pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4E HGNC ENSG00000188089 28 0 0.00 20 2 9.09 PLCB4 0 genome.wustl.edu 37 20 9449234 9449234 + Nonsense_Mutation SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 20 9449234 9449234 C T SNP PLCB4 ENST00000334005 human ensembl 74_37 +1 known nonsense c.3229 p.R1077* 1.000 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB4 HGNC ENSG00000101333 47 0 0.00 37 2 5.13 PLCH2 0 genome.wustl.edu 37 1 2420795 2420795 + Missense_Mutation SNP T T C TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 1 2420795 2420795 T C SNP PLCH2 ENST00000378486 human ensembl 74_37 +1 known missense c.1385 p.L462P 0.999 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH2 HGNC ENSG00000149527 tier1 - - 25 0 0.00 25 7 21.88 PLK1 0 genome.wustl.edu 37 16 23691416 23691416 + Missense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 16 23691416 23691416 G T SNP PLK1 ENST00000300093 human ensembl 74_37 +1 known missense c.420 p.E140D 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_POLO_box_duplicated_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_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK1 HGNC ENSG00000166851 tier1 - - 52 0 0.00 57 4 6.56 PLXDC1 0 genome.wustl.edu 37 17 37234192 37234192 + Missense_Mutation SNP A A T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 17 37234192 37234192 A T SNP PLXDC1 ENST00000315392 human ensembl 74_37 -1 known missense c.1160 p.L387H 0.672 NULL pfam_Plexin_repeat,superfamily_Plexin-like_fold - no_errors PLXDC1 HGNC ENSG00000161381 tier1 - - 24 0 0.00 28 10 26.32 POLQ 0 genome.wustl.edu 37 3 121178982 121178982 + Missense_Mutation SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 3 121178982 121178982 G A SNP POLQ ENST00000264233 human ensembl 74_37 -1 known missense c.7067 p.A2356V 0.993 pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 tier1 - - 34 0 0.00 17 13 43.33 PPP1R16A 0 genome.wustl.edu 37 8 145724303 145724303 + Missense_Mutation SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 8 145724303 145724303 G A SNP PPP1R16A ENST00000292539 human ensembl 74_37 +1 known missense c.335 p.C112Y 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PPP1R16A HGNC ENSG00000160972 35 0 0.00 35 2 5.41 PPP1R3A 0 genome.wustl.edu 37 7 113520081 113520081 + Missense_Mutation SNP A A C TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 7 113520081 113520081 A C SNP PPP1R3A ENST00000284601 human ensembl 74_37 -1 known missense c.1066 p.L356V 0.346 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 tier1 - - 74 0 0.00 20 17 44.74 PRKAR1B 0 genome.wustl.edu 37 7 720328 720328 + Silent SNP T T C TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 7 720328 720328 T C SNP PRKAR1B ENST00000360274 human ensembl 74_37 -1 known silent c.213 p.S71 0.415 pirsf_cAMP_dep_PK_reg_su pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin - no_errors PRKAR1B HGNC ENSG00000188191 40 0 0.00 25 2 7.41 PRKCZ 0 genome.wustl.edu 37 1 2087464 2087464 + Missense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 1 2087464 2087464 G T SNP PRKCZ ENST00000378567 human ensembl 74_37 +1 known missense c.907 p.V303L 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_PKC_zeta,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKCZ HGNC ENSG00000067606 54 0 0.00 50 3 5.66 PRKD1 0 genome.wustl.edu 37 14 30068314 30068314 + Silent SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 14 30068314 30068314 C T SNP PRKD1 ENST00000331968 human ensembl 74_37 -1 known silent c.2085 p.R695 0.218 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_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD1 HGNC ENSG00000184304 40 0 0.00 29 2 6.45 PRKG1 0 genome.wustl.edu 37 10 53841384 53841384 + Frame_Shift_Del DEL A A - TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 10 53841384 53841384 A - DEL PRKG1 ENST00000373975 human ensembl 74_37 +1 putative frame_shift_del c.11 p.N5fs 0.020 pfscan_cNMP-bd_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom,prints_cGMP_dep_kinase,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKG1 HGNC ENSG00000185532 tier1 23 0 0.00 31 2 6.06 PRKG2 0 genome.wustl.edu 37 4 82126024 82126024 + Nonsense_Mutation SNP T T A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 4 82126024 82126024 T A SNP PRKG2 ENST00000264399 human ensembl 74_37 -1 known nonsense c.178 p.K60* 0.871 pirsf_cGMP-dependent_protein_kinase pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin - no_errors PRKG2 HGNC ENSG00000138669 tier1 - - 30 0 0.00 5 10 66.67 PRLHR 0 genome.wustl.edu 37 10 120354100 120354100 + Missense_Mutation SNP C C A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 10 120354100 120354100 C A SNP PRLHR ENST00000239032 human ensembl 74_37 -1 known missense c.657 p.E219D 0.995 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prolrel_pep_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prolrel_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PRLHR HGNC ENSG00000119973 tier1 - - 28 0 0.00 13 30 69.77 PRPS1 0 genome.wustl.edu 37 X 106885630 106885630 + Missense_Mutation SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 X 106885630 106885630 C T SNP PRPS1 ENST00000372435 human ensembl 74_37 +1 known missense c.440 p.A147V 1.000 tigrfam_Rib-P_diPkinase pfam_PRibTrfase_dom,tigrfam_Rib-P_diPkinase - no_errors PRPS1 HGNC ENSG00000147224 tier1 - - 34 0 0.00 51 4 7.27 PSME1 0 genome.wustl.edu 37 14 24607555 24607555 + Missense_Mutation SNP T T C TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 14 24607555 24607555 T C SNP PSME1 ENST00000382708 human ensembl 74_37 +1 known missense c.529 p.Y177H 1.000 pfam_Proteasome_activ_pa28_C,superfamily_Proteasome_activ_pa28 pfam_Proteasome_activ_pa28_C,pfam_Proteasome_activ_pa28_N,superfamily_Proteasome_activ_pa28 - no_errors PSME1 HGNC ENSG00000092010 tier1 - - 45 0 0.00 13 13 50.00 PTPN21 0 genome.wustl.edu 37 14 88945583 88945583 + Missense_Mutation SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 14 88945583 88945583 C T SNP PTPN21 ENST00000328736 human ensembl 74_37 -1 known missense c.2192 p.R731H 0.000 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN21 HGNC ENSG00000070778 tier1 - - 52 0 0.00 15 22 59.46 PTPN23 0 genome.wustl.edu 37 3 47453615 47453615 + Missense_Mutation SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 3 47453615 47453615 C T SNP PTPN23 ENST00000265562 human ensembl 74_37 +1 known missense c.4105 p.R1369C 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN23 HGNC ENSG00000076201 26 0 0.00 13 2 13.33 RAB35 0 genome.wustl.edu 37 12 120541663 120541663 + Missense_Mutation SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 12 120541663 120541663 G A SNP RAB35 ENST00000229340 human ensembl 74_37 -1 known missense c.194 p.A65V 0.999 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB35 HGNC ENSG00000111737 tier1 - - 41 0 0.00 43 4 8.51 RASAL3 0 genome.wustl.edu 37 19 15571892 15571892 + Silent SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 19 15571892 15571892 G T SNP RASAL3 ENST00000343625 human ensembl 74_37 -1 known silent c.585 p.P195 0.986 NULL pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RasGAP,pfscan_RasGAP - no_errors RASAL3 HGNC ENSG00000105122 66 0 0.00 45 4 8.16 RBMXL2 0 genome.wustl.edu 37 11 7111369 7111369 + Nonsense_Mutation SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 11 7111369 7111369 C T SNP RBMXL2 ENST00000306904 human ensembl 74_37 +1 known nonsense c.1018 p.R340* 1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL2 HGNC ENSG00000170748 tier1 - - 35 0 0.00 26 21 44.68 REV1 0 genome.wustl.edu 37 2 100021024 100021024 + Silent SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 2 100021024 100021024 G A SNP REV1 ENST00000258428 human ensembl 74_37 -1 known silent c.2928 p.G976 0.988 pirsf_REV1 pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_DNA_pol_Y-fam_little_finger,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom,pfscan_DNA_repair_prot_UmuC-like_N - no_errors REV1 HGNC ENSG00000135945 75 0 0.00 53 3 5.36 RHOU 0 genome.wustl.edu 37 1 228879482 228879482 + Missense_Mutation SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 1 228879482 228879482 G A SNP RHOU ENST00000366691 human ensembl 74_37 +1 known missense c.772 p.V258I 0.811 NULL pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOU HGNC ENSG00000116574 16 0 0.00 33 2 5.71 RIC3 0 genome.wustl.edu 37 11 8159966 8159967 + RNA INS - - A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 11 8159966 8159967 - A INS RIC3 ENST00000524799 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RIC3 HGNC ENSG00000166405 tier1 40 0 0.00 37 3 7.50 RNF2 0 genome.wustl.edu 37 1 185069041 185069041 + Missense_Mutation SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 1 185069041 185069041 G A SNP RNF2 ENST00000367510 human ensembl 74_37 +1 known missense c.856 p.A286T 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF2 HGNC ENSG00000121481 57 0 0.00 43 3 6.52 RPS10 0 genome.wustl.edu 37 6 34393814 34393814 + RNA SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 6 34393814 34393814 C T SNP RPS10 ENST00000480942 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RPS10 HGNC ENSG00000124614 tier1 - - 28 0 0.00 25 4 13.79 RPS6KL1 0 genome.wustl.edu 37 14 75388105 75388105 + Missense_Mutation SNP C C A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 14 75388105 75388105 C A SNP RPS6KL1 ENST00000358328 human ensembl 74_37 -1 known missense c.140 p.R47L 0.987 smart_MIT pfam_Prot_kinase_dom,pfam_MIT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors RPS6KL1 HGNC ENSG00000198208 tier1 - - 32 0 0.00 26 8 23.53 RSPH4A 0 genome.wustl.edu 37 6 116938141 116938141 + Nonsense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 6 116938141 116938141 G T SNP RSPH4A ENST00000229554 human ensembl 74_37 +1 known nonsense c.355 p.E119* 0.000 NULL pfam_Radial_spoke - no_errors RSPH4A HGNC ENSG00000111834 29 0 0.00 35 3 7.89 SAGE1 0 genome.wustl.edu 37 X 134987423 134987423 + Missense_Mutation SNP C C G TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 X 134987423 134987423 C G SNP SAGE1 ENST00000324447 human ensembl 74_37 +1 known missense c.326 p.A109G 0.004 NULL NULL - no_errors SAGE1 HGNC ENSG00000181433 tier1 - - 21 0 0.00 10 16 61.54 SCARB1 0 genome.wustl.edu 37 12 125294827 125294827 + Missense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 12 125294827 125294827 G T SNP SCARB1 ENST00000415380 human ensembl 74_37 -1 known missense c.735 p.F245L 0.949 pfam_CD36 pfam_CD36,prints_CD36,prints_CD36_antigen - no_errors SCARB1 HGNC ENSG00000073060 tier1 - - 54 0 0.00 59 4 6.35 SCARB2 0 genome.wustl.edu 37 4 77091064 77091064 + Missense_Mutation SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 4 77091064 77091064 G A SNP SCARB2 ENST00000264896 human ensembl 74_37 -1 known missense c.1069 p.H357Y 0.936 pfam_CD36,superfamily_NA-bd_OB-fold,prints_CD36_antigen pfam_CD36,superfamily_NA-bd_OB-fold,prints_LimpII,prints_CD36,prints_CD36_antigen - no_errors SCARB2 HGNC ENSG00000138760 tier1 - - 35 0 0.00 24 4 14.29 SCN1A 0 genome.wustl.edu 37 2 166848274 166848274 + Silent SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 2 166848274 166848274 C T SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known silent c.5511 p.P1837 0.075 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 tier1 - - 51 0 0.00 21 28 57.14 SEMA3G 0 genome.wustl.edu 37 3 52474808 52474808 + Silent SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 3 52474808 52474808 C T SNP SEMA3G ENST00000231721 human ensembl 74_37 -1 known silent c.960 p.G320 0.989 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3G HGNC ENSG00000010319 tier1 - - 33 0 0.00 24 11 31.43 SENP2 0 genome.wustl.edu 37 3 185300577 185300577 + Missense_Mutation SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 3 185300577 185300577 G A SNP SENP2 ENST00000545472 human ensembl 74_37 +1 known missense c.43 p.E15K 0.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP2 HGNC ENSG00000163904 tier1 - - 71 0 0.00 73 15 17.05 SERBP1 0 genome.wustl.edu 37 1 67880930 67880930 + Silent SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 1 67880930 67880930 G A SNP SERBP1 ENST00000370995 human ensembl 74_37 -1 known silent c.1089 p.G363 1.000 NULL pfam_HABP4_PAIRBP1-bd - no_errors SERBP1 HGNC ENSG00000142864 tier1 - - 40 0 0.00 61 5 7.58 SLC10A5 0 genome.wustl.edu 37 8 82606431 82606431 + Silent SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 8 82606431 82606431 C T SNP SLC10A5 ENST00000518568 human ensembl 74_37 -1 known silent c.777 p.R259 0.002 pfam_BilAc/Na_symport pfam_BilAc/Na_symport - no_errors SLC10A5 HGNC ENSG00000253598 tier1 - - 35 0 0.00 19 9 32.14 SLC28A1 0 genome.wustl.edu 37 15 85431044 85431044 + Missense_Mutation SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 15 85431044 85431044 C T SNP SLC28A1 ENST00000286749 human ensembl 74_37 +1 known missense c.53 p.A18V 0.002 NULL pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac - no_errors SLC28A1 HGNC ENSG00000156222 82 0 0.00 55 4 6.78 SLC45A1 0 genome.wustl.edu 37 1 8395635 8395635 + Missense_Mutation SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 1 8395635 8395635 G A SNP SLC45A1 ENST00000377479 human ensembl 74_37 +1 known missense c.1684 p.V562I 1.000 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A1 HGNC ENSG00000162426 tier1 - - 49 0 0.00 60 23 27.71 SLC46A2 0 genome.wustl.edu 37 9 115652722 115652722 + Silent SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 9 115652722 115652722 G T SNP SLC46A2 ENST00000374228 human ensembl 74_37 -1 known silent c.240 p.I80 1.000 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Tet-R_TetA/multi-R_MdtG - no_errors SLC46A2 HGNC ENSG00000119457 tier1 - - 45 0 0.00 38 6 13.64 SLC6A12 0 genome.wustl.edu 37 12 305292 305292 + Nonsense_Mutation SNP C C A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 12 305292 305292 C A SNP SLC6A12 ENST00000359674 human ensembl 74_37 -1 known nonsense c.1324 p.E442* 0.846 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_betaine - no_errors SLC6A12 HGNC ENSG00000111181 40 0 0.00 38 2 5.00 SLC9A3R1 0 genome.wustl.edu 37 17 72764670 72764670 + Missense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 17 72764670 72764670 G T SNP SLC9A3R1 ENST00000262613 human ensembl 74_37 +1 known missense c.952 p.D318Y 0.991 pfam_EBP50_C-term,pirsf_NaH_exchngr_reg_CF_NHE-RF pfam_PDZ,pfam_EBP50_C-term,superfamily_PDZ,smart_PDZ,pirsf_NaH_exchngr_reg_CF_NHE-RF,pfscan_PDZ - no_errors SLC9A3R1 HGNC ENSG00000109062 57 0 0.00 62 4 6.06 SLIT2 0 genome.wustl.edu 37 4 20569178 20569178 + Missense_Mutation SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 4 20569178 20569178 G A SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known missense c.2888 p.S963N 1.000 pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 tier1 - - 43 0 0.00 43 4 8.51 SLITRK1 0 genome.wustl.edu 37 13 84455568 84455568 + Missense_Mutation SNP T T G TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 13 84455568 84455568 T G SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known missense c.75 p.K25N 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 tier1 - - 23 0 0.00 24 6 20.00 SMAD5-AS1 0 genome.wustl.edu 37 5 135469656 135469656 + RNA SNP A A C TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 5 135469656 135469656 A C SNP SMAD5-AS1 ENST00000297163 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SMAD5-AS1 HGNC ENSG00000164621 tier1 - - 61 0 0.00 70 16 18.60 SNRNP200 0 genome.wustl.edu 37 2 96943977 96943977 + Missense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 2 96943977 96943977 G T SNP SNRNP200 ENST00000323853 human ensembl 74_37 -1 known missense c.5608 p.Q1870K 1.000 pfam_Sec63-dom,smart_Sec63-dom pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC ENSG00000144028 35 0 0.00 26 3 10.34 SNRPD2 0 genome.wustl.edu 37 19 46191713 46191713 + Silent SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 19 46191713 46191713 G A SNP SNRPD2 ENST00000342669 human ensembl 74_37 -1 known silent c.114 p.N38 1.000 pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors SNRPD2 HGNC ENSG00000125743 tier1 - - 78 0 0.00 65 4 5.80 SNUPN 0 genome.wustl.edu 37 15 75890977 75890977 + Missense_Mutation SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 15 75890977 75890977 C T SNP SNUPN ENST00000371091 human ensembl 74_37 -1 known missense c.931 p.G311R 1.000 pirsf_Snurportin-1 pfam_Snurportin-1_N,pirsf_Snurportin-1,pfscan_Importin-a_IBB - no_errors SNUPN HGNC ENSG00000169371 tier1 rs138384328 - 51 0 0.00 22 20 47.62 SORCS3 0 genome.wustl.edu 37 10 106907435 106907435 + Missense_Mutation SNP C C G TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 10 106907435 106907435 C G SNP SORCS3 ENST00000369701 human ensembl 74_37 +1 known missense c.1363 p.Q455E 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 tier1 - - 61 0 0.00 66 13 16.46 SPIDR 0 genome.wustl.edu 37 8 48353023 48353023 + Missense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 8 48353023 48353023 G T SNP SPIDR ENST00000297423 human ensembl 74_37 +1 known missense c.1016 p.G339V 0.000 NULL NULL - no_errors SPIDR HGNC ENSG00000164808 48 0 0.00 32 2 5.88 SSPO 0 genome.wustl.edu 37 7 149484958 149484959 + RNA INS - - G TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 7 149484958 149484959 - G INS SSPO ENST00000262089 human ensembl 74_37 +1 known rna NULL NULL 1.000:0.010 - - - no_errors SSPO HGNC ENSG00000197558 tier1 80 0 0.00 23 16 41.03 STEAP3 0 genome.wustl.edu 37 2 120003167 120003167 + Missense_Mutation SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 2 120003167 120003167 G A SNP STEAP3 ENST00000393110 human ensembl 74_37 +1 known missense c.125 p.G42D 1.000 NULL pfam_Fe3_Rdtase_TM_dom - no_errors STEAP3 HGNC ENSG00000115107 tier1 - - 52 0 0.00 64 4 5.88 STK10 0 genome.wustl.edu 37 5 171509489 171509489 + Missense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 5 171509489 171509489 G T SNP STK10 ENST00000176763 human ensembl 74_37 -1 known missense c.1830 p.D610E 0.891 pfam_PKK pfam_PKK,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 STK10 HGNC ENSG00000072786 24 0 0.00 34 4 10.26 STT3B 0 genome.wustl.edu 37 3 31663635 31663635 + Silent SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 3 31663635 31663635 G T SNP STT3B ENST00000295770 human ensembl 74_37 +1 known silent c.1374 p.V458 0.995 pfam_Oligo_trans_STT3 pfam_Oligo_trans_STT3 - no_errors STT3B HGNC ENSG00000163527 tier1 - - 31 0 0.00 35 4 10.26 SYNGAP1 0 genome.wustl.edu 37 6 33411523 33411523 + Missense_Mutation SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 6 33411523 33411523 C T SNP SYNGAP1 ENST00000418600 human ensembl 74_37 +1 known missense c.3194 p.P1065L 0.926 pfam_DUF3498 pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors SYNGAP1 HGNC ENSG00000197283 tier1 - - 28 0 0.00 17 10 37.04 TARDBP 0 genome.wustl.edu 37 1 11080620 11080620 + Silent SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 1 11080620 11080620 C T SNP TARDBP ENST00000240185 human ensembl 74_37 +1 known silent c.678 p.F226 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TARDBP HGNC ENSG00000120948 tier1 - - 74 0 0.00 66 12 15.38 TBX5 0 genome.wustl.edu 37 12 114793480 114793480 + Missense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 12 114793480 114793480 G T SNP TBX5 ENST00000310346 human ensembl 74_37 -1 known missense c.1414 p.P472T 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX5 HGNC ENSG00000089225 tier1 - - 50 0 0.00 38 4 9.09 TEX13A 0 genome.wustl.edu 37 X 104463918 104463918 + Missense_Mutation SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 X 104463918 104463918 G A SNP TEX13A ENST00000413579 human ensembl 74_37 -1 known missense c.958 p.P320S 0.008 NULL pfam_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors TEX13A HGNC ENSG00000133149 tier1 - - 24 0 0.00 5 19 79.17 TFAM 0 genome.wustl.edu 37 10 60154864 60154864 + RNA SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 10 60154864 60154864 G T SNP TFAM ENST00000373899 human ensembl 74_37 +1 known rna NULL NULL 0.772 - - - no_errors TFAM HGNC ENSG00000108064 tier1 - - 33 0 0.00 36 4 10.00 TM2D3 0 genome.wustl.edu 37 15 102182790 102182791 + Frame_Shift_Ins INS - - C TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 15 102182790 102182791 - C INS TM2D3 ENST00000333202 human ensembl 74_37 -1 known frame_shift_ins c.636_635 p.L213fs 0.994:1.000 pfam_TM2 pfam_TM2 - no_errors TM2D3 HGNC ENSG00000184277 tier1 10 0 0.00 4 2 33.33 TM4SF18 0 genome.wustl.edu 37 3 149051106 149051106 + Missense_Mutation SNP T T C TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 3 149051106 149051106 T C SNP TM4SF18 ENST00000296059 human ensembl 74_37 -1 known missense c.64 p.I22V 0.996 pfam_L6_membrane pfam_L6_membrane - no_errors TM4SF18 HGNC ENSG00000163762 20 0 0.00 48 3 5.88 TNNT2 0 genome.wustl.edu 37 1 201331138 201331138 + Frame_Shift_Del DEL T T - TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 1 201331138 201331138 T - DEL TNNT2 ENST00000458432 human ensembl 74_37 -1 known frame_shift_del c.619 p.S207fs 0.414 pfam_Troponin pfam_Troponin - no_errors TNNT2 HGNC ENSG00000118194 tier1 46 0 0.00 30 2 6.25 TNRC6C 0 genome.wustl.edu 37 17 76099514 76099514 + Missense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 17 76099514 76099514 G T SNP TNRC6C ENST00000335749 human ensembl 74_37 +1 known missense c.4700 p.R1567L 1.000 NULL pfam_Argonaute_hook_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TNRC6C HGNC ENSG00000078687 tier1 - - 65 0 0.00 66 4 5.71 TPTE2 0 genome.wustl.edu 37 13 20048088 20048089 + Frame_Shift_Ins INS - - A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 13 20048088 20048089 - A INS TPTE2 ENST00000382977 human ensembl 74_37 -1 known frame_shift_ins c.358_357 p.L119fs 0.050:0.090 pfam_Ion_trans_dom pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE2 HGNC ENSG00000132958 tier1 158 0 0.00 201 31 13.36 TPTEP1 0 genome.wustl.edu 37 22 17082854 17082854 + RNA SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 22 17082854 17082854 G T SNP TPTEP1 ENST00000400593 human ensembl 74_37 +1 known rna NULL NULL 0.796 - - - no_errors TPTEP1 HGNC ENSG00000100181 tier1 - - 27 0 0.00 14 4 22.22 TRIM55 0 genome.wustl.edu 37 8 67062681 67062681 + Missense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 8 67062681 67062681 G T SNP TRIM55 ENST00000315962 human ensembl 74_37 +1 known missense c.965 p.R322L 1.000 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 TRIM55 HGNC ENSG00000147573 63 0 0.00 34 2 5.56 TRPC4 0 genome.wustl.edu 37 13 38320271 38320271 + Nonsense_Mutation SNP C C A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 13 38320271 38320271 C A SNP TRPC4 ENST00000379681 human ensembl 74_37 -1 known nonsense c.700 p.E234* 1.000 pfam_TRP_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC4 HGNC ENSG00000133107 tier1 - - 52 0 0.00 51 7 12.07 TSHZ3 0 genome.wustl.edu 37 19 31769567 31769567 + Missense_Mutation SNP A A G TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 19 31769567 31769567 A G SNP TSHZ3 ENST00000240587 human ensembl 74_37 -1 known missense c.1132 p.F378L 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 tier1 - - 46 0 0.00 18 9 33.33 TTC30B 0 genome.wustl.edu 37 2 178417117 178417117 + Missense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 2 178417117 178417117 G T SNP TTC30B ENST00000408939 human ensembl 74_37 -1 known missense c.375 p.S125R 0.397 NULL smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC30B HGNC ENSG00000196659 tier1 - - 43 0 0.00 48 5 9.43 TTN 0 genome.wustl.edu 37 2 179398419 179398419 + Missense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 2 179398419 179398419 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.95219 p.T31740K 0.920 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 49 0 0.00 61 4 6.15 TXNDC11 0 genome.wustl.edu 37 16 11827869 11827873 + Frame_Shift_Del DEL AAAAG AAAAG - TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 AAAAG AAAAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 16 11827869 11827873 AAAAG 0 DEL TXNDC11 ENST00000356957 human ensembl 74_37 -1 known frame_shift_del c.538_534 p.F178fs 1.000:1.000:1.000:1.000:1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC11 HGNC ENSG00000153066 53 0 0.00 61 6 8.96 UBA1 0 genome.wustl.edu 37 X 47065781 47065781 + Nonsense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 X 47065781 47065781 G T SNP UBA1 ENST00000335972 human ensembl 74_37 +1 known nonsense c.1876 p.E626* 1.000 pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA1 HGNC ENSG00000130985 15 0 0.00 13 3 18.75 UBE3B 0 genome.wustl.edu 37 12 109972420 109972420 + Missense_Mutation SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 12 109972420 109972420 G A SNP UBE3B ENST00000342494 human ensembl 74_37 +1 known missense c.3040 p.V1014I 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3B HGNC ENSG00000151148 tier1 - - 25 0 0.00 30 14 31.82 UBQLN3 0 genome.wustl.edu 37 11 5530262 5530262 + Missense_Mutation SNP A A G TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 11 5530262 5530262 A G SNP UBQLN3 ENST00000311659 human ensembl 74_37 -1 known missense c.527 p.F176S 1.000 NULL pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN3 HGNC ENSG00000175520 tier1 - - 33 0 0.00 44 12 21.43 UCP1 0 genome.wustl.edu 37 4 141481057 141481057 + Missense_Mutation SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 4 141481057 141481057 G A SNP UCP1 ENST00000262999 human ensembl 74_37 -1 known missense c.917 p.A306V 0.867 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling - no_errors UCP1 HGNC ENSG00000109424 tier1 - - 49 0 0.00 59 4 6.25 UGT2B28 0 genome.wustl.edu 37 4 70156482 70156482 + Silent SNP G G C TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 4 70156482 70156482 G C SNP UGT2B28 ENST00000335568 human ensembl 74_37 +1 known silent c.1263 p.S421 0.001 pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B28 HGNC ENSG00000135226 tier1 - - 164 0 0.00 92 32 25.81 UPK1A 0 genome.wustl.edu 37 19 36168744 36168744 + Missense_Mutation SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 19 36168744 36168744 G A SNP UPK1A ENST00000222275 human ensembl 74_37 +1 known missense c.679 p.D227N 0.988 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors UPK1A HGNC ENSG00000105668 tier1 - - 81 0 0.00 65 4 5.80 USP26 0 genome.wustl.edu 37 X 132160963 132160963 + Missense_Mutation SNP C C A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 X 132160963 132160963 C A SNP USP26 ENST00000370832 human ensembl 74_37 -1 known missense c.1286 p.G429V 0.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP26 HGNC ENSG00000134588 tier1 - - 39 0 0.00 7 25 78.12 UTP20 0 genome.wustl.edu 37 12 101764854 101764854 + Silent SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 12 101764854 101764854 C T SNP UTP20 ENST00000261637 human ensembl 74_37 +1 known silent c.6706 p.L2236 0.816 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 32 0 0.00 31 2 6.06 VAPB 0 genome.wustl.edu 37 20 57016116 57016116 + Missense_Mutation SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 20 57016116 57016116 C T SNP VAPB ENST00000475243 human ensembl 74_37 +1 known missense c.550 p.R184W 0.998 pirsf_Vesicle-associated_membrane pfam_MSP_dom,superfamily_PapD-like,pirsf_Vesicle-associated_membrane,pfscan_MSP_dom - no_errors VAPB HGNC ENSG00000124164 41 0 0.00 37 2 5.13 VPS9D1 0 genome.wustl.edu 37 16 89778882 89778882 + Missense_Mutation SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 16 89778882 89778882 C T SNP VPS9D1 ENST00000389386 human ensembl 74_37 -1 known missense c.592 p.A198T 1.000 NULL pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9 - no_errors VPS9D1 HGNC ENSG00000075399 tier1 - - 78 0 0.00 60 53 46.90 VWA5B1 0 genome.wustl.edu 37 1 20669680 20669680 + Missense_Mutation SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 1 20669680 20669680 C T SNP VWA5B1 ENST00000289815 human ensembl 74_37 +1 known missense c.2420 p.P807L 0.001 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA5B1 HGNC ENSG00000158816 tier1 - - 24 0 0.00 11 7 38.89 WASL 0 genome.wustl.edu 37 7 123332839 123332841 + In_Frame_Del DEL AGG AGG - TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 7 123332839 123332841 AGG - DEL WASL ENST00000223023 human ensembl 74_37 -1 known in_frame_del c.909_907 p.P303in_frame_del 0.996:1.000:1.000 superfamily_WASP_C pfam_WH1/EVH1,pfam_CRIB_dom,pfam_WH2_dom,superfamily_WASP_C,smart_WH1/EVH1,smart_CRIB_dom,smart_WH2_dom,pfscan_CRIB_dom,pfscan_WH1/EVH1,pfscan_WH2_dom - no_errors WASL HGNC ENSG00000106299 tier1 33 0 0.00 11 4 26.67 WDFY1 0 genome.wustl.edu 37 2 224759012 224759012 + Missense_Mutation SNP A A G TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 2 224759012 224759012 A G SNP WDFY1 ENST00000233055 human ensembl 74_37 -1 known missense c.770 p.L257P 0.999 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,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 WDFY1 HGNC ENSG00000085449 52 0 0.00 38 4 9.52 WDR48 0 genome.wustl.edu 37 3 39116253 39116253 + Missense_Mutation SNP T T C TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 3 39116253 39116253 T C SNP WDR48 ENST00000302313 human ensembl 74_37 +1 known missense c.709 p.W237R 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_DUF3337,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR48 HGNC ENSG00000114742 tier1 - - 68 0 0.00 54 4 6.90 WDR72 0 genome.wustl.edu 37 15 53908282 53908282 + Missense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 15 53908282 53908282 G T SNP WDR72 ENST00000360509 human ensembl 74_37 -1 known missense c.2121 p.F707L 0.023 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR72 HGNC ENSG00000166415 55 0 0.00 29 3 9.38 XIRP2 0 genome.wustl.edu 37 2 168103321 168103321 + Missense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 2 168103321 168103321 G T SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.5419 p.D1807Y 1.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 tier1 - - 24 0 0.00 22 4 15.38 XKR7 0 genome.wustl.edu 37 20 30584967 30584967 + Nonsense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 20 30584967 30584967 G T SNP XKR7 ENST00000562532 human ensembl 74_37 +1 known nonsense c.1447 p.E483* 1.000 NULL pfam_Transport_prot_XK - no_errors XKR7 HGNC ENSG00000260903 34 0 0.00 46 3 6.12 XRRA1 0 genome.wustl.edu 37 11 74651896 74651896 + Frame_Shift_Del DEL C C - TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 11 74651896 74651896 C - DEL XRRA1 ENST00000340360 human ensembl 74_37 -1 known frame_shift_del c.28 p.D10fs 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors XRRA1 HGNC ENSG00000166435 tier1 49 0 0.00 15 2 11.76 ZFC3H1 0 genome.wustl.edu 37 12 72057007 72057007 + Missense_Mutation SNP A A T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 12 72057007 72057007 A T SNP ZFC3H1 ENST00000378743 human ensembl 74_37 -1 known missense c.384 p.S128R 1.000 NULL pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom - no_errors ZFC3H1 HGNC ENSG00000133858 tier1 - - 62 0 0.00 94 33 25.98 ZNF175 0 genome.wustl.edu 37 19 52090051 52090051 + Missense_Mutation SNP T T C TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 19 52090051 52090051 T C SNP ZNF175 ENST00000262259 human ensembl 74_37 +1 known missense c.467 p.M156T 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 ZNF175 HGNC ENSG00000105497 tier1 - - 39 0 0.00 28 14 33.33 ZNF215 0 genome.wustl.edu 37 11 6977317 6977317 + Frame_Shift_Del DEL A A - TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 11 6977317 6977317 A - DEL ZNF215 ENST00000278319 human ensembl 74_37 +1 known frame_shift_del c.1109 p.S372fs 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF215 HGNC ENSG00000149054 tier1 32 0 0.00 24 3 11.11 ZNF442 0 genome.wustl.edu 37 19 12461334 12461334 + Silent SNP C C A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 19 12461334 12461334 C A SNP ZNF442 ENST00000242804 human ensembl 74_37 -1 known silent c.1065 p.G355 0.995 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 ZNF442 HGNC ENSG00000198342 tier1 - - 104 0 0.00 78 5 6.02 ZNF525 0 genome.wustl.edu 37 19 53885241 53885241 + Missense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 19 53885241 53885241 G T SNP ZNF525 ENST00000355326 human ensembl 74_37 +1 known missense c.563 p.G188V 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF525 HGNC ENSG00000203326 tier1 - - 50 0 0.00 37 12 24.49 ZNF577 0 genome.wustl.edu 37 19 52364182 52364182 + Missense_Mutation SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 19 52364182 52364182 G T SNP ZNF577 ENST00000412216 human ensembl 74_37 -1 putative missense c.333 p.S111R 0.106 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF577 HGNC ENSG00000161551 tier1 - - 39 0 0.00 34 4 10.53 ZNF729 0 genome.wustl.edu 37 19 22499671 22499671 + Missense_Mutation SNP A A C TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 19 22499671 22499671 A C SNP ZNF729 ENST00000601693 human ensembl 74_37 +1 novel missense c.3452 p.K1151T 0.009 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 ZNF729 HGNC ENSG00000196350 tier1 - - 39 0 0.00 25 8 24.24 ZNF732 0 genome.wustl.edu 37 4 265860 265860 + Silent SNP G G T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 4 265860 265860 G T SNP ZNF732 ENST00000419098 human ensembl 74_37 -1 known silent c.786 p.S262 0.001 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 ZNF732 HGNC ENSG00000186777 tier1 - - 46 0 0.00 22 23 51.11 ZNF829 0 genome.wustl.edu 37 19 37382913 37382913 + Silent SNP T T C TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 19 37382913 37382913 T C SNP ZNF829 ENST00000520965 human ensembl 74_37 -1 known silent c.1023 p.R341 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF829 HGNC ENSG00000185869 tier1 - - 55 0 0.00 54 5 8.47 ZNF829 0 genome.wustl.edu 37 19 37382962 37382962 + Missense_Mutation SNP T T A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 19 37382962 37382962 T A SNP ZNF829 ENST00000520965 human ensembl 74_37 -1 known missense c.974 p.E325V 0.356 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF829 HGNC ENSG00000185869 tier1 - - 63 0 0.00 43 4 8.33 ZNF829 0 genome.wustl.edu 37 19 37382964 37382964 + Silent SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 19 37382964 37382964 C T SNP ZNF829 ENST00000520965 human ensembl 74_37 -1 known silent c.972 p.K324 0.066 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF829 HGNC ENSG00000185869 tier1 - - 62 0 0.00 44 4 8.33 ZNF99 0 genome.wustl.edu 37 19 22941667 22941667 + Silent SNP T T C TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 19 22941667 22941667 T C SNP ZNF99 ENST00000397104 human ensembl 74_37 -1 known silent c.771 p.K257 0.014 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF99 HGNC ENSG00000213973 tier1 rs199672066 - 85 0 0.00 59 9 13.24 ZSWIM7 0 genome.wustl.edu 37 17 15890599 15890599 + Missense_Mutation SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 344221f6-4b8a-46e4-885b-b2e2205529f2 6c3798fb-7b20-4c5c-9d02-492c8d972ec2 17 15890599 15890599 C T SNP ZSWIM7 ENST00000399277 human ensembl 74_37 -1 known missense c.182 p.S61N 1.000 NULL pfam_Znf_SWIM,pfscan_Znf_SWIM - no_errors ZSWIM7 HGNC ENSG00000214941 tier1 - - 49 0 0.00 51 4 7.27