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 AAK1 0 genome.wustl.edu 37 2 69752196 69752196 + Missense_Mutation SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 2 69752196 69752196 C T SNP AAK1 ENST00000409085 human ensembl 74_37 -1 known missense c.1024 p.A342T 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 AAK1 HGNC ENSG00000115977 tier1 - - 51 0 0.00 47 37 44.05 ABCA12 0 genome.wustl.edu 37 2 215823015 215823015 + Missense_Mutation SNP A A C TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 2 215823015 215823015 A C SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known missense c.6103 p.F2035V 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 tier1 - - 70 0 0.00 64 20 23.81 ABCA12 0 genome.wustl.edu 37 2 215872568 215872568 + Silent SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 2 215872568 215872568 G A SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known silent c.2475 p.S825 0.995 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 43 14 24.56 ABCC10 0 genome.wustl.edu 37 6 43400126 43400126 + Silent SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 6 43400126 43400126 G A SNP ABCC10 ENST00000372530 human ensembl 74_37 +1 known silent c.408 p.L136 0.975 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC10 HGNC ENSG00000124574 tier1 - - 34 0 0.00 29 18 38.30 ABHD8 0 genome.wustl.edu 37 19 17405573 17405573 + Silent SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 19 17405573 17405573 C T SNP ABHD8 ENST00000247706 human ensembl 74_37 -1 known silent c.843 p.T281 0.620 pfam_AB_hydrolase_1 pfam_AB_hydrolase_1,prints_AB_hydrolase_1,prints_Epox_hydrolase-like - no_errors ABHD8 HGNC ENSG00000127220 tier1 - - 20 0 0.00 22 6 21.43 ACVR1B 0 genome.wustl.edu 37 12 52380775 52380775 + Missense_Mutation SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 12 52380775 52380775 G A SNP ACVR1B ENST00000415850 human ensembl 74_37 +1 known missense c.1310 p.G437E 0.008 smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ACVR1B HGNC ENSG00000135503 tier1 - - 45 0 0.00 35 36 50.70 ADA 0 genome.wustl.edu 37 20 43251252 43251252 + Silent SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 20 43251252 43251252 C T SNP ADA ENST00000372874 human ensembl 74_37 -1 known silent c.822 p.P274 0.037 pfam_A/AMP_deaminase_dom,tigrfam_Ado/ade_deaminase pfam_A/AMP_deaminase_dom,tigrfam_Ado/ade_deaminase - no_errors ADA HGNC ENSG00000196839 tier1 - - 30 0 0.00 35 4 10.26 ADAM22 0 genome.wustl.edu 37 7 87810916 87810916 + Missense_Mutation SNP G G T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 7 87810916 87810916 G T SNP ADAM22 ENST00000265727 human ensembl 74_37 +1 known missense c.2505 p.W835C 1.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM22 HGNC ENSG00000008277 tier1 - - 15 0 0.00 18 6 25.00 ADAMTS12 0 genome.wustl.edu 37 5 33576648 33576648 + Missense_Mutation SNP T T G TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 5 33576648 33576648 T G SNP ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known missense c.3483 p.E1161D 0.886 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 tier1 - - 21 0 0.00 35 11 23.91 ADAMTS2 0 genome.wustl.edu 37 5 178770946 178770946 + Frame_Shift_Del DEL T T - TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 5 178770946 178770946 T - DEL ADAMTS2 ENST00000251582 human ensembl 74_37 -1 known frame_shift_del c.356 p.D119fs 1.000 pfam_Peptidase_M12B_N pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ENSG00000087116 tier1 12 0 0.00 4 2 33.33 ADAMTS9 0 genome.wustl.edu 37 3 64644328 64644328 + Silent SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 3 64644328 64644328 C T SNP ADAMTS9 ENST00000498707 human ensembl 74_37 -1 known silent c.819 p.T273 0.002 NULL pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS9 HGNC ENSG00000163638 tier1 - - 30 0 0.00 34 10 22.73 ADAMTSL3 0 genome.wustl.edu 37 15 84581902 84581902 + Missense_Mutation SNP C C G TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 15 84581902 84581902 C G SNP ADAMTSL3 ENST00000286744 human ensembl 74_37 +1 known missense c.1759 p.R587G 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 tier1 - - 29 0 0.00 39 17 30.36 AGAP1 0 genome.wustl.edu 37 2 236945291 236945291 + Missense_Mutation SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 2 236945291 236945291 G A SNP AGAP1 ENST00000304032 human ensembl 74_37 +1 known missense c.1732 p.A578T 0.997 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP1 HGNC ENSG00000157985 tier1 - - 95 0 0.00 70 27 27.84 ALLC 0 genome.wustl.edu 37 2 3727512 3727512 + Missense_Mutation SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 2 3727512 3727512 G A SNP ALLC ENST00000252505 human ensembl 74_37 +1 known missense c.226 p.D76N 0.948 pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase - no_errors ALLC HGNC ENSG00000151360 tier1 - - 58 0 0.00 52 34 39.53 ALOX15B 0 genome.wustl.edu 37 17 7948301 7948301 + Frame_Shift_Del DEL C C - TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 17 7948301 7948301 C - DEL ALOX15B ENST00000380183 human ensembl 74_37 +1 known frame_shift_del c.831 p.L278fs 0.169 pfam_LipOase_C,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_mml,prints_LipOase_C - no_errors ALOX15B HGNC ENSG00000179593 tier1 71 0 0.00 71 34 32.38 AMOTL2 0 genome.wustl.edu 37 3 134086487 134086487 + Missense_Mutation SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 3 134086487 134086487 C T SNP AMOTL2 ENST00000249883 human ensembl 74_37 -1 known missense c.893 p.S298N 0.001 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL2 HGNC ENSG00000114019 41 0 0.00 37 2 5.13 ANKLE2 0 genome.wustl.edu 37 12 133331423 133331423 + Missense_Mutation SNP T T G TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 12 133331423 133331423 T G SNP ANKLE2 ENST00000357997 human ensembl 74_37 -1 known missense c.478 p.S160R 0.006 NULL pfam_LEM_dom,superfamily_LEM/LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM_dom - no_errors ANKLE2 HGNC ENSG00000176915 tier1 - - 39 0 0.00 44 4 8.33 ANKRD36C 0 genome.wustl.edu 37 2 96601236 96601236 + Silent SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 2 96601236 96601236 G A SNP ANKRD36C ENST00000456556 human ensembl 74_37 -1 known silent c.1701 p.A567 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36C HGNC ENSG00000174501 51 0 0.00 56 6 9.68 ANKRD54 0 genome.wustl.edu 37 22 38229062 38229062 + Missense_Mutation SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 22 38229062 38229062 G A SNP ANKRD54 ENST00000215941 human ensembl 74_37 -1 known missense c.623 p.A208V 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_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 ANKRD54 HGNC ENSG00000100124 21 0 0.00 36 4 10.00 AOAH 0 genome.wustl.edu 37 7 36657928 36657928 + Silent SNP A A G TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 7 36657928 36657928 A G SNP AOAH ENST00000258749 human ensembl 74_37 -1 known silent c.726 p.V242 0.993 NULL pfam_Lipase_GDSL,pfam_SapB_2,superfamily_Saposin-like,smart_SaposinB,pfscan_SaposinB - no_errors AOAH HGNC ENSG00000136250 tier1 - - 33 0 0.00 37 25 40.32 APOC1 0 genome.wustl.edu 37 19 45419666 45419666 + Frame_Shift_Del DEL A A - TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 19 45419666 45419666 A - DEL APOC1 ENST00000592885 human ensembl 74_37 +1 novel frame_shift_del c.278 p.T96fs 0.005 NULL pfam_ApoC-I - no_errors APOC1 HGNC ENSG00000130208 tier1 23 0 0.00 22 3 12.00 ASL 0 genome.wustl.edu 37 7 65552335 65552335 + Missense_Mutation SNP G G T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 7 65552335 65552335 G T SNP ASL ENST00000304874 human ensembl 74_37 +1 known missense c.617 p.G206V 1.000 pfam_Fumarate_lyase_N,superfamily_L-Aspartase-like,tigrfam_Argininosuccinate_lyase pfam_Fumarate_lyase_N,superfamily_L-Aspartase-like,prints_Fumarate_lyase_fam,tigrfam_Argininosuccinate_lyase - no_errors ASL HGNC ENSG00000126522 tier1 - - 36 0 0.00 116 12 9.30 ASTN1 0 genome.wustl.edu 37 1 177030356 177030356 + Missense_Mutation SNP T T A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 1 177030356 177030356 T A SNP ASTN1 ENST00000367654 human ensembl 74_37 -1 known missense c.329 p.Q110L 1.000 NULL superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 tier1 - - 52 0 0.00 46 13 22.03 ASTN1 0 genome.wustl.edu 37 1 177030375 177030375 + Missense_Mutation SNP G G T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 1 177030375 177030375 G T SNP ASTN1 ENST00000367654 human ensembl 74_37 -1 known missense c.310 p.P104T 1.000 NULL superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 tier1 - - 50 0 0.00 36 11 23.40 ATP13A4 0 genome.wustl.edu 37 3 193120496 193120496 + Missense_Mutation SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 3 193120496 193120496 C T SNP ATP13A4 ENST00000342695 human ensembl 74_37 -1 known missense c.3536 p.G1179D 0.007 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A4 HGNC ENSG00000127249 tier1 - - 44 0 0.00 65 4 5.80 ATP1A4 0 genome.wustl.edu 37 1 160124898 160124898 + Frame_Shift_Del DEL C C - TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 1 160124898 160124898 C - DEL ATP1A4 ENST00000368081 human ensembl 74_37 +1 known frame_shift_del c.271 p.T93fs 1.000 pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A4 HGNC ENSG00000132681 tier1 46 0 0.00 52 19 26.76 B4GALNT3 0 genome.wustl.edu 37 12 663075 663075 + Silent SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 12 663075 663075 C T SNP B4GALNT3 ENST00000266383 human ensembl 74_37 +1 known silent c.1986 p.N662 1.000 NULL pfam_PA14,pfam_Chond_GalNAc,smart_PA14 - no_errors B4GALNT3 HGNC ENSG00000139044 tier1 - - 24 0 0.00 10 19 65.52 BAZ2A 0 genome.wustl.edu 37 12 56997326 56997326 + Missense_Mutation SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 12 56997326 56997326 C T SNP BAZ2A ENST00000551812 human ensembl 74_37 -1 known missense c.3203 p.R1068H 1.000 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2A HGNC ENSG00000076108 tier1 - - 42 0 0.00 32 22 40.74 BBS1 0 genome.wustl.edu 37 11 66297345 66297345 + Silent SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 11 66297345 66297345 C T SNP BBS1 ENST00000419755 human ensembl 74_37 +1 known silent c.1506 p.R502 0.008 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors CTD-3074O7.11 Clone_based_vega_gene ENSG00000256349 tier1 - - 78 0 0.00 44 47 51.65 BCAM 0 genome.wustl.edu 37 19 45314532 45314532 + Nonsense_Mutation SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 19 45314532 45314532 C T SNP BCAM ENST00000270233 human ensembl 74_37 +1 known nonsense c.133 p.R45* 0.236 smart_Ig_sub,pfscan_Ig-like_dom pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors BCAM HGNC ENSG00000187244 tier1 rs199665533 - 79 0 0.00 74 29 28.16 C10orf90 0 genome.wustl.edu 37 10 128147765 128147765 + Missense_Mutation SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 10 128147765 128147765 G A SNP C10orf90 ENST00000544758 human ensembl 74_37 -1 known missense c.2032 p.P678S 0.981 NULL NULL - no_errors C10orf90 HGNC ENSG00000154493 tier1 - - 32 0 0.00 18 34 65.38 C16orf95 0 genome.wustl.edu 37 16 87344827 87344827 + Missense_Mutation SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 16 87344827 87344827 G A SNP C16orf95 ENST00000567970 human ensembl 74_37 -1 known missense c.406 p.R136C 0.059 NULL NULL - no_errors C16orf95 HGNC ENSG00000260456 tier1 - - 56 0 0.00 27 29 51.79 C20orf173 0 genome.wustl.edu 37 20 34116541 34116541 + Silent SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 20 34116541 34116541 G A SNP C20orf173 ENST00000374345 human ensembl 74_37 -1 known silent c.477 p.P159 0.000 NULL NULL - no_errors C20orf173 HGNC ENSG00000125975 20 0 0.00 27 4 12.90 C20orf194 0 genome.wustl.edu 37 20 3299048 3299048 + Splice_Site SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 20 3299048 3299048 C T SNP C20orf194 ENST00000252032 human ensembl 74_37 -1 known splice_site c.1357-1 e17-1 1.000 - - - no_errors C20orf194 HGNC ENSG00000088854 tier1 - - 44 0 0.00 23 21 47.73 C3orf36 0 genome.wustl.edu 37 3 133647490 133647490 + Missense_Mutation SNP A A C TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 3 133647490 133647490 A C SNP C3orf36 ENST00000408895 human ensembl 74_37 -1 known missense c.158 p.L53R 0.022 NULL NULL - no_errors C3orf36 HGNC ENSG00000221972 tier1 - - 34 0 0.00 22 12 35.29 CACNA1D 0 genome.wustl.edu 37 3 53766990 53766990 + Splice_Site SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 3 53766990 53766990 G A SNP CACNA1D ENST00000288139 human ensembl 74_37 +1 known splice_site c.2681+1 e20+1 1.000 - - - no_errors CACNA1D HGNC ENSG00000157388 tier1 - - 30 0 0.00 21 22 51.16 CACNA1E 0 genome.wustl.edu 37 1 181745356 181745356 + Silent SNP A A G TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 1 181745356 181745356 A G SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known silent c.5259 p.R1753 0.997 pfscan_EF_hand_dom 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 - - 17 0 0.00 11 10 47.62 CACNA1F 0 genome.wustl.edu 37 X 49082518 49082518 + Nonsense_Mutation SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 X 49082518 49082518 G A SNP CACNA1F ENST00000376265 human ensembl 74_37 -1 known nonsense c.1537 p.R513* 0.747 prints_VDCC_L_a1su pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1F HGNC ENSG00000102001 tier1 - - 21 0 0.00 4 38 90.48 CATSPERD 0 genome.wustl.edu 37 19 5733871 5733871 + Missense_Mutation SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 19 5733871 5733871 G A SNP CATSPERD ENST00000381624 human ensembl 74_37 +1 known missense c.281 p.G94D 0.005 NULL superfamily_WD40_repeat_dom - no_errors CATSPERD HGNC ENSG00000174898 tier1 - - 36 0 0.00 19 16 45.71 CCDC158 0 genome.wustl.edu 37 4 77250093 77250093 + Silent SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 4 77250093 77250093 G A SNP CCDC158 ENST00000388914 human ensembl 74_37 -1 known silent c.2958 p.D986 0.927 NULL superfamily_Prefoldin - no_errors CCDC158 HGNC ENSG00000163749 tier1 - - 48 0 0.00 28 13 31.71 CCDC61 0 genome.wustl.edu 37 19 46498690 46498690 + Missense_Mutation SNP A A G TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 19 46498690 46498690 A G SNP CCDC61 ENST00000263284 human ensembl 74_37 +1 known missense c.88 p.N30D 0.744 NULL NULL - no_errors CCDC61 HGNC ENSG00000104983 tier1 - - 48 0 0.00 40 42 51.22 CCDC92 0 genome.wustl.edu 37 12 124403525 124403525 + RNA SNP T T G TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 12 124403525 124403525 T G SNP CCDC92 ENST00000542348 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CCDC92 HGNC ENSG00000119242 tier1 - - 26 0 0.00 23 10 30.30 CD8A 0 genome.wustl.edu 37 2 87017722 87017722 + Silent SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 2 87017722 87017722 C T SNP CD8A ENST00000538832 human ensembl 74_37 -1 known silent c.255 p.Q85 0.671 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors CD8A HGNC ENSG00000153563 tier1 - - 9 0 0.00 10 9 47.37 CDH18 0 genome.wustl.edu 37 5 19473289 19473289 + RNA SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 5 19473289 19473289 C T SNP CDH18 ENST00000510297 human ensembl 74_37 -1 known rna NULL NULL 0.023 - - - no_errors CDH18 HGNC ENSG00000145526 tier1 - - 30 0 0.00 58 26 30.95 CDH18 0 genome.wustl.edu 37 5 19571717 19571717 + Silent SNP T T C TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 5 19571717 19571717 T C SNP CDH18 ENST00000274170 human ensembl 74_37 -1 known silent c.1224 p.Q408 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH18 HGNC ENSG00000145526 tier1 - - 29 0 0.00 28 11 28.21 CELSR2 0 genome.wustl.edu 37 1 109795272 109795272 + Silent SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 1 109795272 109795272 C T SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known silent c.2571 p.G857 0.060 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin 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 CELSR2 HGNC ENSG00000143126 tier1 - - 44 0 0.00 49 8 14.04 CEP170 0 genome.wustl.edu 37 1 243288182 243288182 + RNA DEL T T - TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 1 243288182 243288182 T - DEL CEP170 ENST00000468254 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CEP170 HGNC ENSG00000143702 tier1 23 0 0.00 18 3 14.29 CLUL1 0 genome.wustl.edu 37 18 627265 627265 + Missense_Mutation SNP A A T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 18 627265 627265 A T SNP CLUL1 ENST00000338387 human ensembl 74_37 +1 known missense c.592 p.S198C 0.646 pfam_Clusterin-like,smart_Clusterin_N pfam_Clusterin-like,smart_Clusterin_N,smart_Clusterin_C - no_errors CLUL1 HGNC ENSG00000079101 tier1 - - 67 0 0.00 218 28 11.34 CLUL1 0 genome.wustl.edu 37 18 641516 641516 + Missense_Mutation SNP C C G TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 18 641516 641516 C G SNP CLUL1 ENST00000338387 human ensembl 74_37 +1 known missense c.1184 p.T395R 0.010 pfam_Clusterin-like,smart_Clusterin_C pfam_Clusterin-like,smart_Clusterin_N,smart_Clusterin_C - no_errors CLUL1 HGNC ENSG00000079101 tier1 - - 34 0 0.00 89 11 11.00 CNTNAP3 0 genome.wustl.edu 37 9 39288005 39288005 + Silent SNP A A C TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 9 39288005 39288005 A C SNP CNTNAP3 ENST00000297668 human ensembl 74_37 -1 known silent c.57 p.T19 0.000 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP3 HGNC ENSG00000106714 tier1 - - 40 0 0.00 37 8 17.78 COL22A1 0 genome.wustl.edu 37 8 139774711 139774711 + Splice_Site SNP T T G TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 8 139774711 139774711 T G SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known splice_site c.1804-2 e16-2 0.998 - - - no_errors COL22A1 HGNC ENSG00000169436 tier1 - - 31 0 0.00 37 15 28.85 COL5A3 0 genome.wustl.edu 37 19 10091481 10091481 + Splice_Site SNP C C G TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 19 10091481 10091481 C G SNP COL5A3 ENST00000264828 human ensembl 74_37 -1 known splice_site c.2559+1 e34+1 1.000 - - - no_errors COL5A3 HGNC ENSG00000080573 tier1 - - 26 0 0.00 21 17 44.74 COL6A5 0 genome.wustl.edu 37 3 130110337 130110337 + Missense_Mutation SNP G G T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 3 130110337 130110337 G T SNP COL6A5 ENST00000265379 human ensembl 74_37 +1 known missense c.2732 p.R911L 0.999 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 25 0 0.00 27 2 6.90 COPB1 0 genome.wustl.edu 37 11 14490268 14490268 + Silent SNP T T G TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 11 14490268 14490268 T G SNP COPB1 ENST00000249923 human ensembl 74_37 -1 known silent c.2104 p.R702 1.000 pfam_Coatomer_bsu_C,pirsf_COPB1 pfam_Coatomer_bsu_C,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1 - no_errors COPB1 HGNC ENSG00000129083 63 0 0.00 56 3 5.08 COPS6 0 genome.wustl.edu 37 7 99688276 99688276 + Missense_Mutation SNP A A G TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 7 99688276 99688276 A G SNP COPS6 ENST00000303904 human ensembl 74_37 +1 known missense c.485 p.D162G 1.000 smart_JAB_MPN_dom pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors COPS6 HGNC ENSG00000168090 tier1 - - 57 0 0.00 49 10 16.95 CPB1 0 genome.wustl.edu 37 3 148562324 148562324 + Missense_Mutation SNP T T G TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 3 148562324 148562324 T G SNP CPB1 ENST00000282957 human ensembl 74_37 +1 known missense c.636 p.F212L 0.972 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPB1 HGNC ENSG00000153002 tier1 - - 21 0 0.00 21 29 58.00 CPSF1 0 genome.wustl.edu 37 8 145624995 145624995 + Missense_Mutation SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 8 145624995 145624995 G A SNP CPSF1 ENST00000349769 human ensembl 74_37 -1 known missense c.1225 p.R409C 0.324 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 tier1 - - 26 0 0.00 28 11 28.21 CRTAC1 0 genome.wustl.edu 37 10 99770906 99770906 + Silent SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 10 99770906 99770906 G A SNP CRTAC1 ENST00000370597 human ensembl 74_37 -1 known silent c.213 p.I71 1.000 NULL pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom - no_errors CRTAC1 HGNC ENSG00000095713 tier1 - - 29 0 0.00 11 7 38.89 CSMD3 0 genome.wustl.edu 37 8 113364724 113364724 + Missense_Mutation SNP C C A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 8 113364724 113364724 C A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.6176 p.S2059I 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 tier1 - - 37 0 0.00 40 9 18.37 CSNK1A1 0 genome.wustl.edu 37 5 148899860 148899860 + Missense_Mutation SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 5 148899860 148899860 C T SNP CSNK1A1 ENST00000515768 human ensembl 74_37 -1 known missense c.449 p.C150Y 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors CSNK1A1 HGNC ENSG00000113712 tier1 - - 32 0 0.00 9 15 62.50 DAPK2 0 genome.wustl.edu 37 15 64275755 64275755 + Silent SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 15 64275755 64275755 G A SNP DAPK2 ENST00000261891 human ensembl 74_37 -1 known silent c.291 p.T97 0.998 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 - - 42 0 0.00 56 7 11.11 DCHS2 0 genome.wustl.edu 37 4 155157812 155157812 + Missense_Mutation SNP G G T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 4 155157812 155157812 G T SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.6627 p.N2209K 0.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 tier1 - - 35 0 0.00 8 17 68.00 DCN 0 genome.wustl.edu 37 12 91550915 91550915 + Missense_Mutation SNP G G T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 12 91550915 91550915 G T SNP DCN ENST00000052754 human ensembl 74_37 -1 known missense c.589 p.Q197K 0.220 pirsf_SLRP_I_decor/aspor/byglycan pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan - no_errors DCN HGNC ENSG00000011465 tier1 - - 46 0 0.00 26 17 39.53 DHRS7C 0 genome.wustl.edu 37 17 9680523 9680523 + Silent SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 17 9680523 9680523 C T SNP DHRS7C ENST00000330255 human ensembl 74_37 -1 known silent c.561 p.P187 0.007 pfam_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS7C HGNC ENSG00000184544 tier1 - - 32 0 0.00 26 16 38.10 DLEC1 0 genome.wustl.edu 37 3 38101292 38101292 + Missense_Mutation SNP T T C TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 3 38101292 38101292 T C SNP DLEC1 ENST00000346219 human ensembl 74_37 +1 known missense c.622 p.S208P 0.997 NULL superfamily_PapD-like - no_errors DLEC1 HGNC ENSG00000008226 tier1 - - 65 0 0.00 50 39 43.82 DLEC1 0 genome.wustl.edu 37 3 38101297 38101297 + Silent SNP A A G TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 3 38101297 38101297 A G SNP DLEC1 ENST00000346219 human ensembl 74_37 +1 known silent c.627 p.P209 0.304 NULL superfamily_PapD-like - no_errors DLEC1 HGNC ENSG00000008226 tier1 - - 65 0 0.00 49 39 44.32 DLGAP4 0 genome.wustl.edu 37 20 35156842 35156842 + RNA DEL G G - TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 20 35156842 35156842 G - DEL DLGAP4 ENST00000475894 human ensembl 74_37 +1 known rna NULL NULL 0.582 - - - no_errors DLGAP4 HGNC ENSG00000080845 tier1 41 0 0.00 60 52 46.43 DMXL2 0 genome.wustl.edu 37 15 51763434 51763434 + Missense_Mutation SNP A A C TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 15 51763434 51763434 A C SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known missense c.7378 p.Y2460D 1.000 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 tier1 - - 29 0 0.00 29 18 38.30 DNM1P47 0 genome.wustl.edu 37 15 102292953 102292953 + RNA SNP T T C TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 15 102292953 102292953 T C SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DNM1P47 HGNC ENSG00000259660 tier1 - - 16 0 0.00 5 3 37.50 DPYSL3 0 genome.wustl.edu 37 5 146804484 146804484 + Missense_Mutation SNP C C G TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 5 146804484 146804484 C G SNP DPYSL3 ENST00000398514 human ensembl 74_37 -1 known missense c.82 p.D28H 1.000 superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL3 HGNC ENSG00000113657 tier1 - - 28 0 0.00 2 5 71.43 DQX1 0 genome.wustl.edu 37 2 74746273 74746273 + Nonsense_Mutation SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 2 74746273 74746273 G A SNP DQX1 ENST00000393951 human ensembl 74_37 -1 known nonsense c.1891 p.R631* 0.136 pfam_DUF1605 pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd - no_errors DQX1 HGNC ENSG00000144045 tier1 - - 40 0 0.00 57 6 9.52 DYNC2H1 0 genome.wustl.edu 37 11 103187341 103187341 + Frame_Shift_Del DEL T T - TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 11 103187341 103187341 T - DEL DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known frame_shift_del c.11738 p.F3914fs 0.997 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 tier1 16 0 0.00 30 2 6.25 DYNC2H1 0 genome.wustl.edu 37 11 102991476 102991476 + Missense_Mutation SNP A A T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 11 102991476 102991476 A T SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.1193 p.K398I 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 11 0 0.00 15 3 16.67 DYRK4 0 genome.wustl.edu 37 12 4700374 4700374 + Missense_Mutation SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 12 4700374 4700374 G A SNP DYRK4 ENST00000010132 human ensembl 74_37 +1 known missense c.28 p.E10K 0.193 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 DYRK4 HGNC ENSG00000010219 tier1 - - 48 0 0.00 31 24 43.64 EIF2B2 0 genome.wustl.edu 37 14 75470393 75470393 + Missense_Mutation SNP G G C TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 14 75470393 75470393 G C SNP EIF2B2 ENST00000266126 human ensembl 74_37 +1 known missense c.424 p.V142L 0.996 pfam_IF-2B-related pfam_IF-2B-related - no_errors EIF2B2 HGNC ENSG00000119718 tier1 - - 76 0 0.00 82 9 9.89 EMP2 0 genome.wustl.edu 37 16 10625605 10625606 + RNA INS - - ATGA TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 16 10625605 10625606 - ATGA INS EMP2 ENST00000566033 human ensembl 74_37 -1 putative rna NULL NULL 0.088:0.092 - - - no_errors EMP2 HGNC ENSG00000213853 tier1 16 0 0.00 12 7 36.84 ENSG00000204788 0 genome.wustl.edu 37 9 69380374 69380374 + Silent SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 9 69380374 69380374 G A SNP ENSG00000204788 ENST00000414341 human ensembl 74_37 -1 known silent c.57 p.P19 0.057 NULL NULL - no_errors CR769776.1 Clone_based_ensembl_gene ENSG00000204788 160 0 0.00 159 14 8.09 ENSG00000221244 0 genome.wustl.edu 37 5 1004311 1004314 + RNA DEL GTGT GTGT - TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 GTGT GTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 5 1004311 1004314 GTGT - DEL ENSG00000221244 ENST00000408317 human ensembl 74_37 +1 novel rna NULL NULL 0.057:0.050:0.043:0.036 - - - no_errors AC116351.2 Clone_based_ensembl_gene ENSG00000221244 tier1 24 0 0.00 43 9 17.31 ENSG00000225946 0 genome.wustl.edu 37 7 100607930 100607930 + RNA SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 7 100607930 100607930 G A SNP ENSG00000225946 ENST00000420080 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-395B7.2 Clone_based_vega_gene ENSG00000225946 tier1 - - 35 0 0.00 24 9 27.27 ENSG00000225946 0 genome.wustl.edu 37 7 100608572 100608572 + RNA SNP G G C TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 7 100608572 100608572 G C SNP ENSG00000225946 ENST00000420080 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors RP11-395B7.2 Clone_based_vega_gene ENSG00000225946 tier1 rs10251414 - 11 0 0.00 14 14 50.00 ENSG00000229481 0 genome.wustl.edu 37 19 38321017 38321017 + RNA SNP G G C TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 19 38321017 38321017 G C SNP ENSG00000229481 ENST00000443870 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2554C21.3 Clone_based_vega_gene ENSG00000229481 tier1 - - 43 0 0.00 31 18 36.73 ENSG00000257434 0 genome.wustl.edu 37 12 75435987 75435987 + RNA DEL T T - TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 12 75435987 75435987 T - DEL ENSG00000257434 ENST00000547040 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors RP11-81K13.1 Clone_based_vega_gene ENSG00000257434 tier1 18 0 0.00 21 4 16.00 ENSG00000261604 0 genome.wustl.edu 37 5 43289821 43289821 + RNA SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 5 43289821 43289821 G A SNP ENSG00000261604 ENST00000565748 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CTD-2636A23.2 Clone_based_vega_gene ENSG00000261604 tier1 - - 28 0 0.00 51 15 22.73 ENSG00000266999 0 genome.wustl.edu 37 17 34236333 34236333 + RNA SNP G G T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 17 34236333 34236333 G T SNP ENSG00000266999 ENST00000587132 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC015849.16 Clone_based_vega_gene ENSG00000266999 tier1 - - 71 0 0.00 39 21 35.00 ENSG00000270433 0 genome.wustl.edu 37 14 23764733 23764733 + RNA DEL A A - TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 14 23764733 23764733 A - DEL ENSG00000270433 ENST00000604456 human ensembl 74_37 +1 known rna NULL NULL 0.835 - - - no_errors RP11-124D2.7 Clone_based_vega_gene ENSG00000270433 tier1 20 0 0.00 18 3 14.29 EPS15L1 0 genome.wustl.edu 37 19 16536019 16536019 + Missense_Mutation SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 19 16536019 16536019 C T SNP EPS15L1 ENST00000455140 human ensembl 74_37 -1 known missense c.667 p.V223I 1.000 NULL superfamily_Prefoldin,smart_EPS15_homology,smart_EF_hand_dom,smart_Ubiquitin-int_motif,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif - no_errors EPS15L1 HGNC ENSG00000127527 tier1 - - 25 0 0.00 32 15 31.91 EYA1 0 genome.wustl.edu 37 8 72129031 72129031 + Missense_Mutation SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 8 72129031 72129031 C T SNP EYA1 ENST00000340726 human ensembl 74_37 -1 known missense c.1256 p.C419Y 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA1 HGNC ENSG00000104313 tier1 - - 52 0 0.00 44 36 45.00 FAM153B 0 genome.wustl.edu 37 5 175528580 175528580 + Silent SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 5 175528580 175528580 C T SNP FAM153B ENST00000253490 human ensembl 74_37 +1 known silent c.660 p.A220 0.000 NULL prints_FAM153 - no_errors FAM153B HGNC ENSG00000182230 tier1 - - 91 0 0.00 36 25 40.98 FAM189A1 0 genome.wustl.edu 37 15 29429289 29429289 + Missense_Mutation SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 15 29429289 29429289 G A SNP FAM189A1 ENST00000261275 human ensembl 74_37 -1 known missense c.739 p.P247S 1.000 NULL pfam_CD20-like - no_errors FAM189A1 HGNC ENSG00000104059 tier1 - - 51 0 0.00 43 25 36.76 FARSB 0 genome.wustl.edu 37 2 223507595 223507595 + Silent SNP G G T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 2 223507595 223507595 G T SNP FARSB ENST00000281828 human ensembl 74_37 -1 known silent c.244 p.R82 1.000 superfamily_DNA-bd_dom_put,tigrfam_Phe-tRNA-synth_IIc_bsu_arc pfam_B3/B4_tRNA-bd,pfam_tRNA_synthase_B5-dom,superfamily_DNA-bd_dom_put,superfamily_Phe-tRNA_synthase_B3/B4,smart_B3/B4_tRNA-bd,smart_tRNA_synthase_B5-dom,tigrfam_Phe-tRNA-synth_IIc_bsu_arc - no_errors FARSB HGNC ENSG00000116120 tier1 - - 27 0 0.00 35 4 10.26 FBXO41 0 genome.wustl.edu 37 2 73491482 73491482 + Missense_Mutation SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 2 73491482 73491482 C T SNP FBXO41 ENST00000295133 human ensembl 74_37 -1 known missense c.1913 p.R638Q 0.998 superfamily_F-box_dom superfamily_F-box_dom - no_errors FBXO41 HGNC ENSG00000163013 tier1 - - 21 0 0.00 23 13 36.11 FREM1 0 genome.wustl.edu 37 9 14851562 14851562 + Missense_Mutation SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 9 14851562 14851562 G A SNP FREM1 ENST00000380881 human ensembl 74_37 -1 known missense c.875 p.P292L 1.000 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 tier1 - - 20 0 0.00 21 13 38.24 FUBP3 0 genome.wustl.edu 37 9 133499004 133499004 + Missense_Mutation SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 9 133499004 133499004 G A SNP FUBP3 ENST00000319725 human ensembl 74_37 +1 known missense c.881 p.G294E 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FUBP3 HGNC ENSG00000107164 tier1 - - 54 0 0.00 46 9 16.36 GAL3ST1 0 genome.wustl.edu 37 22 30951613 30951613 + Missense_Mutation SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 22 30951613 30951613 G A SNP GAL3ST1 ENST00000338911 human ensembl 74_37 -1 known missense c.599 p.P200L 1.000 pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST1 HGNC ENSG00000128242 tier1 - - 53 0 0.00 28 18 39.13 GFRA1 0 genome.wustl.edu 37 10 117885013 117885013 + Silent SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 10 117885013 117885013 G A SNP GFRA1 ENST00000355422 human ensembl 74_37 -1 known silent c.489 p.L163 0.552 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_A1 - no_errors GFRA1 HGNC ENSG00000151892 tier1 - - 35 0 0.00 17 8 30.77 GLDC 0 genome.wustl.edu 37 9 6602180 6602180 + Missense_Mutation SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 9 6602180 6602180 G A SNP GLDC ENST00000321612 human ensembl 74_37 -1 known missense c.1084 p.R362C 1.000 pfam_GDC-P_N,superfamily_PyrdxlP-dep_Trfase,tigrfam_GDC_P_homo pfam_GDC-P_N,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase,tigrfam_GDC_P_homo - no_errors GLDC HGNC ENSG00000178445 tier1 rs10975674 - 37 0 0.00 33 12 26.09 GLI1 0 genome.wustl.edu 37 12 57864851 57864851 + Silent SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 12 57864851 57864851 C T SNP GLI1 ENST00000228682 human ensembl 74_37 +1 known silent c.2328 p.T776 0.005 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI1 HGNC ENSG00000111087 tier1 - - 11 0 0.00 9 9 50.00 GOLGA4 0 genome.wustl.edu 37 3 37379178 37379178 + Missense_Mutation SNP A A T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 3 37379178 37379178 A T SNP GOLGA4 ENST00000361924 human ensembl 74_37 +1 known missense c.6349 p.T2117S 0.201 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC ENSG00000144674 tier1 - - 40 0 0.00 41 11 21.15 GRIA1 0 genome.wustl.edu 37 5 153035396 153035396 + Missense_Mutation SNP G G C TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 5 153035396 153035396 G C SNP GRIA1 ENST00000448073 human ensembl 74_37 +1 known missense c.693 p.K231N 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC ENSG00000155511 tier1 - - 60 0 0.00 43 16 27.12 GRM8 0 genome.wustl.edu 37 7 126882955 126882955 + Missense_Mutation SNP T T C TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 7 126882955 126882955 T C SNP GRM8 ENST00000339582 human ensembl 74_37 -1 known missense c.304 p.I102V 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C - no_errors GRM8 HGNC ENSG00000179603 tier1 - - 31 0 0.00 13 10 43.48 HBBP1 0 genome.wustl.edu 37 11 5264410 5264410 + RNA SNP C C A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 11 5264410 5264410 C A SNP HBBP1 ENST00000454892 human ensembl 74_37 -1 known rna NULL NULL 0.903 - - - no_errors HBBP1 HGNC ENSG00000229988 tier1 - - 91 0 0.00 56 40 41.67 HECTD1 0 genome.wustl.edu 37 14 31647370 31647370 + Silent SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 14 31647370 31647370 G A SNP HECTD1 ENST00000399332 human ensembl 74_37 -1 known silent c.231 p.A77 1.000 superfamily_ARM-type_fold pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT - no_errors HECTD1 HGNC ENSG00000092148 tier1 - - 49 0 0.00 66 9 12.00 HERPUD2 0 genome.wustl.edu 37 7 35707194 35707194 + Missense_Mutation SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 7 35707194 35707194 G A SNP HERPUD2 ENST00000311350 human ensembl 74_37 -1 known missense c.344 p.S115L 1.000 NULL pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors HERPUD2 HGNC ENSG00000122557 tier1 - - 44 0 0.00 69 8 10.39 HIVEP2 0 genome.wustl.edu 37 6 143095791 143095791 + Missense_Mutation SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 6 143095791 143095791 C T SNP HIVEP2 ENST00000012134 human ensembl 74_37 -1 known missense c.85 p.E29K 1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 tier1 - - 64 0 0.00 56 10 15.15 HMCN1 0 genome.wustl.edu 37 1 185992214 185992214 + Missense_Mutation SNP C C G TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 1 185992214 185992214 C G SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.5678 p.A1893G 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 tier1 - - 32 0 0.00 37 13 26.00 HNRNPF 0 genome.wustl.edu 37 10 43882851 43882851 + Missense_Mutation SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 10 43882851 43882851 G A SNP HNRNPF ENST00000337970 human ensembl 74_37 -1 known missense c.482 p.S161L 0.996 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPF HGNC ENSG00000169813 tier1 - - 44 0 0.00 66 9 12.00 IER5 0 genome.wustl.edu 37 1 181058830 181058830 + Silent SNP G G C TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 1 181058830 181058830 G C SNP IER5 ENST00000367577 human ensembl 74_37 +1 known silent c.792 p.G264 0.988 pfam_IER pfam_IER - no_errors IER5 HGNC ENSG00000162783 tier1 - - 33 0 0.00 45 15 25.00 IGLON5 0 genome.wustl.edu 37 19 51830117 51830117 + Missense_Mutation SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 19 51830117 51830117 C T SNP IGLON5 ENST00000270642 human ensembl 74_37 +1 known missense c.611 p.A204V 0.997 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGLON5 HGNC ENSG00000142549 tier1 - - 50 0 0.00 31 31 49.21 INO80D 0 genome.wustl.edu 37 2 206911274 206911274 + Nonsense_Mutation SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 2 206911274 206911274 G A SNP INO80D ENST00000403263 human ensembl 74_37 -1 known nonsense c.1027 p.Q343* 1.000 NULL NULL - no_errors INO80D HGNC ENSG00000114933 tier1 - - 28 0 0.00 14 7 33.33 INPP1 0 genome.wustl.edu 37 2 191236040 191236040 + Missense_Mutation SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 2 191236040 191236040 G A SNP INPP1 ENST00000322522 human ensembl 74_37 +1 known missense c.1112 p.G371E 1.000 pfam_Inositol_monophosphatase pfam_Inositol_monophosphatase - no_errors INPP1 HGNC ENSG00000151689 20 0 0.00 30 3 9.09 IRF2BPL 0 genome.wustl.edu 37 14 77492176 77492176 + Missense_Mutation SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 14 77492176 77492176 G A SNP IRF2BPL ENST00000238647 human ensembl 74_37 -1 known missense c.1960 p.R654W 0.393 pfam_Interferon_reg_fac2-bd1_2_Znf pfam_Interferon_reg_fac2-bd1_2_Znf - no_errors IRF2BPL HGNC ENSG00000119669 tier1 - - 12 0 0.00 10 13 56.52 ITGA9 0 genome.wustl.edu 37 3 37845392 37845392 + Missense_Mutation SNP G G C TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 3 37845392 37845392 G C SNP ITGA9 ENST00000264741 human ensembl 74_37 +1 known missense c.2968 p.G990R 1.000 prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA9 HGNC ENSG00000144668 tier1 - - 60 0 0.00 46 48 51.06 IVL 0 genome.wustl.edu 37 1 152883289 152883289 + Missense_Mutation SNP A A G TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 1 152883289 152883289 A G SNP IVL ENST00000368764 human ensembl 74_37 +1 known missense c.1016 p.Q339R 0.004 pfam_Involucrin_rpt pfam_Involucrin_N,pfam_Involucrin_rpt - no_errors IVL HGNC ENSG00000163207 tier1 - - 49 0 0.00 36 26 41.94 JAKMIP3 0 genome.wustl.edu 37 10 133950788 133950788 + Missense_Mutation SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 10 133950788 133950788 G A SNP JAKMIP3 ENST00000298622 human ensembl 74_37 +1 known missense c.1279 p.V427M 0.999 NULL NULL - no_errors JAKMIP3 HGNC ENSG00000188385 tier1 - - 31 0 0.00 6 33 84.62 KAT8 0 genome.wustl.edu 37 16 31129012 31129012 + Missense_Mutation SNP C C G TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 16 31129012 31129012 C G SNP KAT8 ENST00000448516 human ensembl 74_37 +1 known missense c.10 p.Q4E 0.977 NULL pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors KAT8 HGNC ENSG00000103510 22 0 0.00 35 4 10.26 KCNA3 0 genome.wustl.edu 37 1 111215785 111215785 + Silent SNP C C G TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 1 111215785 111215785 C G SNP KCNA3 ENST00000369769 human ensembl 74_37 -1 known silent c.1647 p.T549 1.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA3 HGNC ENSG00000177272 tier1 - - 40 0 0.00 39 17 30.36 KCNJ4 0 genome.wustl.edu 37 22 38823567 38823567 + Missense_Mutation SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 22 38823567 38823567 C T SNP KCNJ4 ENST00000303592 human ensembl 74_37 -1 known missense c.571 p.A191T 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.3 - no_errors KCNJ4 HGNC ENSG00000168135 tier1 - - 40 0 0.00 16 15 48.39 KCNQ3 0 genome.wustl.edu 37 8 133152397 133152397 + Missense_Mutation SNP T T G TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 8 133152397 133152397 T G SNP KCNQ3 ENST00000388996 human ensembl 74_37 -1 known missense c.1494 p.E498D 1.000 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 tier1 - - 47 0 0.00 46 43 48.31 KGFLP2 0 genome.wustl.edu 37 9 41963837 41963837 + Splice_Site SNP A A T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 9 41963837 41963837 A T SNP KGFLP2 ENST00000454645 human ensembl 74_37 -1 known splice_site c.NULL NULL 1.000 - - - no_errors RP11-204M4.2 Clone_based_vega_gene ENSG00000204837 tier1 - - 406 0 0.00 488 40 7.56 KHDRBS3 0 genome.wustl.edu 37 8 136659488 136659489 + RNA INS - - A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 8 136659488 136659489 - A INS KHDRBS3 ENST00000518728 human ensembl 74_37 +1 putative rna NULL NULL 1.000:1.000 - - - no_errors KHDRBS3 HGNC ENSG00000131773 tier1 18 0 0.00 14 5 26.32 KIAA0125 0 genome.wustl.edu 37 14 106387083 106387083 + Silent SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 14 106387083 106387083 G A SNP KIAA0125 ENST00000429431 human ensembl 74_37 +1 putative silent c.132 p.T44 0.103 NULL NULL - no_errors KIAA0125 HGNC ENSG00000226777 tier1 - - 119 0 0.00 111 10 8.26 KIF20A 0 genome.wustl.edu 37 5 137518143 137518143 + Silent SNP G G T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 5 137518143 137518143 G T SNP KIF20A ENST00000394894 human ensembl 74_37 +1 known silent c.507 p.T169 0.197 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20A HGNC ENSG00000112984 48 0 0.00 25 2 7.41 KMT2B 0 genome.wustl.edu 37 19 36213516 36213516 + Missense_Mutation SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 19 36213516 36213516 G A SNP KMT2B ENST00000222270 human ensembl 74_37 +1 known missense c.2618 p.R873H 1.000 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 tier1 - - 12 0 0.00 23 11 32.35 KRT83 0 genome.wustl.edu 37 12 52710769 52710769 + Silent SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 12 52710769 52710769 G A SNP KRT83 ENST00000293670 human ensembl 74_37 -1 known silent c.789 p.S263 0.001 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT83 HGNC ENSG00000170523 tier1 - - 66 0 0.00 50 21 29.58 LAMB2 0 genome.wustl.edu 37 3 49161216 49161216 + Missense_Mutation SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 3 49161216 49161216 G A SNP LAMB2 ENST00000305544 human ensembl 74_37 -1 known missense c.3742 p.R1248C 1.000 NULL pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 tier1 - - 39 0 0.00 41 7 14.58 LENG9 0 genome.wustl.edu 37 19 54973452 54973452 + Missense_Mutation SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 19 54973452 54973452 C T SNP LENG9 ENST00000333834 human ensembl 74_37 -1 known missense c.1324 p.G442R 0.000 superfamily_RNA_ligase/cNuc_Pdiesterase superfamily_RNA_ligase/cNuc_Pdiesterase,smart_Znf_CCCH - no_errors LENG9 HGNC ENSG00000182909 tier1 - - 45 0 0.00 39 11 22.00 LIN54 0 genome.wustl.edu 37 4 83905687 83905687 + Missense_Mutation SNP G G T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 4 83905687 83905687 G T SNP LIN54 ENST00000340417 human ensembl 74_37 -1 known missense c.311 p.A104D 1.000 NULL pfam_CRC - no_errors LIN54 HGNC ENSG00000189308 48 0 0.00 33 4 10.81 LINC00207 0 genome.wustl.edu 37 22 44966415 44966415 + RNA SNP C C A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 22 44966415 44966415 C A SNP LINC00207 ENST00000334566 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors LINC00207 HGNC ENSG00000187012 tier1 - - 19 0 0.00 13 16 55.17 LINC01020 0 genome.wustl.edu 37 5 5034586 5034586 + RNA SNP T T C TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 5 5034586 5034586 T C SNP LINC01020 ENST00000508201 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors LINC01020 HGNC ENSG00000215231 tier1 - - 36 0 0.00 39 58 59.79 LPA 0 genome.wustl.edu 37 6 161015105 161015105 + Missense_Mutation SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 6 161015105 161015105 C T SNP LPA ENST00000316300 human ensembl 74_37 -1 known missense c.3514 p.D1172N 0.001 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors LPA HGNC ENSG00000198670 tier1 - - 129 0 0.00 97 43 30.71 LPAL2 0 genome.wustl.edu 37 6 160888673 160888673 + RNA SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 6 160888673 160888673 C T SNP LPAL2 ENST00000335388 human ensembl 74_37 -1 known rna NULL NULL 0.288 - - - no_errors LPAL2 HGNC ENSG00000213071 tier1 - - 64 0 0.00 40 16 28.57 LRIT1 0 genome.wustl.edu 37 10 85993970 85993970 + Missense_Mutation SNP G G T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 10 85993970 85993970 G T SNP LRIT1 ENST00000372105 human ensembl 74_37 -1 known missense c.754 p.Q252K 1.000 smart_Cys-rich_flank_reg_C pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRIT1 HGNC ENSG00000148602 tier1 - - 30 0 0.00 22 14 38.89 LRP1B 0 genome.wustl.edu 37 2 141130629 141130629 + Silent SNP A A G TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 2 141130629 141130629 A G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known silent c.10716 p.C3572 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 40 0 0.00 39 10 20.41 LRRK2 0 genome.wustl.edu 37 12 40689258 40689258 + Missense_Mutation SNP C C A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 12 40689258 40689258 C A SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.2908 p.H970N 0.137 NULL 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 - - 24 0 0.00 24 8 25.00 LRRTM1 0 genome.wustl.edu 37 2 80530483 80530483 + Silent SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 2 80530483 80530483 G A SNP LRRTM1 ENST00000295057 human ensembl 74_37 -1 known silent c.462 p.P154 0.973 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC ENSG00000162951 tier1 - - 35 0 0.00 25 6 19.35 MAML2 0 genome.wustl.edu 37 11 95826428 95826428 + Missense_Mutation SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 11 95826428 95826428 C T SNP MAML2 ENST00000524717 human ensembl 74_37 -1 known missense c.767 p.G256D 0.040 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC ENSG00000184384 tier1 - - 21 0 0.00 25 5 16.67 MAN1A1 0 genome.wustl.edu 37 6 119501086 119501086 + Silent SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 6 119501086 119501086 G A SNP MAN1A1 ENST00000368468 human ensembl 74_37 -1 known silent c.1860 p.D620 0.896 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1A1 HGNC ENSG00000111885 22 0 0.00 19 2 9.52 MED12L 0 genome.wustl.edu 37 3 151085514 151085514 + Missense_Mutation SNP C C A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 3 151085514 151085514 C A SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.3303 p.D1101E 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 tier1 - - 53 0 0.00 92 18 16.36 MEF2C 0 genome.wustl.edu 37 5 88178941 88178941 + RNA SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 5 88178941 88178941 C T SNP MEF2C ENST00000509349 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MEF2C HGNC ENSG00000081189 tier1 - - 15 0 0.00 7 5 41.67 MKNK2 0 genome.wustl.edu 37 19 2041133 2041133 + Missense_Mutation SNP C C G TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 19 2041133 2041133 C G SNP MKNK2 ENST00000250896 human ensembl 74_37 -1 known missense c.1016 p.C339S 0.884 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MKNK2 HGNC ENSG00000099875 tier1 - - 44 0 0.00 42 7 14.29 MMACHC 0 genome.wustl.edu 37 1 45974675 45974675 + Nonsense_Mutation SNP G G T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 1 45974675 45974675 G T SNP MMACHC ENST00000401061 human ensembl 74_37 +1 known nonsense c.637 p.E213* 0.980 NULL NULL - no_errors MMACHC HGNC ENSG00000132763 28 0 0.00 36 2 5.26 MPPED2 0 genome.wustl.edu 37 11 30432554 30432554 + RNA SNP A A C TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 11 30432554 30432554 A C SNP MPPED2 ENST00000524667 human ensembl 74_37 -1 known rna NULL NULL 0.987 - - - no_errors MPPED2 HGNC ENSG00000066382 tier1 - - 18 0 0.00 1 4 80.00 MUC16 0 genome.wustl.edu 37 19 9048223 9048223 + Silent SNP T T C TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 19 9048223 9048223 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.33408 p.E11136 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 94 0 0.00 52 37 41.57 MUC4 0 genome.wustl.edu 37 3 195515381 195515381 + Missense_Mutation SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 3 195515381 195515381 G A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.3070 p.P1024S 0.003 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 tier1 - - 214 0 0.00 145 80 35.56 MYCBP2 0 genome.wustl.edu 37 13 77724939 77724939 + Missense_Mutation SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 13 77724939 77724939 G A SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known missense c.7061 p.P2354L 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,pfscan_Filamin/ABP280_repeat-like pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 tier1 - - 42 0 0.00 34 13 27.08 MYCBP2 0 genome.wustl.edu 37 13 77792007 77792007 + Missense_Mutation SNP C C A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 13 77792007 77792007 C A SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known missense c.3025 p.D1009Y 1.000 superfamily_RCC1/BLIP-II,superfamily_ARM-type_fold,pfscan_Reg_chr_condens,prints_Reg_chr_condens pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 30 0 0.00 23 4 14.81 MYH14 0 genome.wustl.edu 37 19 50762495 50762495 + Missense_Mutation SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 19 50762495 50762495 G A SNP MYH14 ENST00000262269 human ensembl 74_37 +1 known missense c.2327 p.R776H 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 51 0 0.00 68 4 5.56 MYO18B 0 genome.wustl.edu 37 22 26166123 26166123 + Missense_Mutation SNP A A G TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 22 26166123 26166123 A G SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known missense c.1559 p.Q520R 1.000 NULL pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 tier1 - - 77 0 0.00 59 37 38.54 MYT1L 0 genome.wustl.edu 37 2 1890313 1890313 + Silent SNP G G C TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 2 1890313 1890313 G C SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known silent c.2709 p.L903 1.000 pfam_Znf_C2HC pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 tier1 - - 55 0 0.00 66 6 8.33 NAALADL2 0 genome.wustl.edu 37 3 174577232 174577232 + Missense_Mutation SNP C C A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 3 174577232 174577232 C A SNP NAALADL2 ENST00000454872 human ensembl 74_37 +1 known missense c.35 p.S12Y 0.972 NULL superfamily_TFR-like_dimer_dom - no_errors NAALADL2 HGNC ENSG00000177694 tier1 - - 34 0 0.00 42 7 14.29 NELL1 0 genome.wustl.edu 37 11 20699482 20699482 + Silent SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 11 20699482 20699482 G A SNP NELL1 ENST00000357134 human ensembl 74_37 +1 known silent c.60 p.V20 0.514 NULL 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 NELL1 HGNC ENSG00000165973 tier1 - - 49 0 0.00 16 26 61.90 NFIL3 0 genome.wustl.edu 37 9 94172659 94172659 + Missense_Mutation SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 9 94172659 94172659 G A SNP NFIL3 ENST00000297689 human ensembl 74_37 -1 known missense c.358 p.L120F 1.000 pfam_bZIP,smart_bZIP,pirsf_TF_bZIP_E4BP4,pfscan_bZIP pfam_Vert_IL3-reg_TF,pfam_bZIP,smart_bZIP,pirsf_TF_bZIP_E4BP4,pfscan_bZIP - no_errors NFIL3 HGNC ENSG00000165030 29 0 0.00 35 2 5.41 NPIPB11 0 genome.wustl.edu 37 16 29415043 29415043 + Silent SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 16 29415043 29415043 G A SNP NPIPB11 ENST00000524087 human ensembl 74_37 -1 putative silent c.81 p.H27 0.821 NULL NULL - no_errors NPIPB11 HGNC ENSG00000254206 129 0 0.00 126 8 5.97 NR5A2 0 genome.wustl.edu 37 1 200089966 200089966 + Missense_Mutation SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 1 200089966 200089966 G A SNP NR5A2 ENST00000367362 human ensembl 74_37 +1 known missense c.1261 p.G421R 0.998 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,pirsf_Steroidogenic_factor_1 pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR5A2 HGNC ENSG00000116833 tier1 - - 71 0 0.00 43 22 33.85 NRXN2 0 genome.wustl.edu 37 11 64457918 64457919 + Frame_Shift_Ins INS - - C TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 11 64457918 64457919 - C INS NRXN2 ENST00000265459 human ensembl 74_37 -1 known frame_shift_ins c.809_808 p.A270fs 1.000:1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 tier1 76 0 0.00 67 10 12.99 NUDT7 0 genome.wustl.edu 37 16 77769784 77769784 + Missense_Mutation SNP G G T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 16 77769784 77769784 G T SNP NUDT7 ENST00000268533 human ensembl 74_37 +1 known missense c.249 p.M83I 0.183 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT7 HGNC ENSG00000140876 46 0 0.00 41 4 8.89 OGFOD2 0 genome.wustl.edu 37 12 123461286 123461286 + Missense_Mutation SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 12 123461286 123461286 C T SNP OGFOD2 ENST00000228922 human ensembl 74_37 +1 known missense c.275 p.A92V 0.000 NULL smart_Pro_4_hyd_alph - no_errors OGFOD2 HGNC ENSG00000111325 tier1 - - 52 0 0.00 23 23 48.94 OR10K2 0 genome.wustl.edu 37 1 158390306 158390306 + Silent SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 1 158390306 158390306 G A SNP OR10K2 ENST00000314902 human ensembl 74_37 -1 known silent c.351 p.V117 0.993 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10K2 HGNC ENSG00000180708 tier1 - - 47 0 0.00 24 17 41.46 OR2J3 0 genome.wustl.edu 37 6 29080410 29080410 + Missense_Mutation SNP T T G TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 6 29080410 29080410 T G SNP OR2J3 ENST00000377169 human ensembl 74_37 +1 known missense c.743 p.L248R 0.979 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2J3 HGNC ENSG00000204701 tier1 - - 80 0 0.00 78 18 18.75 OR51T1 0 genome.wustl.edu 37 11 4904056 4904056 + Silent SNP C C A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 11 4904056 4904056 C A SNP OR51T1 ENST00000380378 human ensembl 74_37 +1 known silent c.1008 p.L336 0.065 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51T1 HGNC ENSG00000176900 tier1 - - 42 0 0.00 21 14 40.00 OR52A1 0 genome.wustl.edu 37 11 5172728 5172728 + Missense_Mutation SNP T T C TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 11 5172728 5172728 T C SNP OR52A1 ENST00000328942 human ensembl 74_37 -1 known missense c.872 p.N291S 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52A1 HGNC ENSG00000182070 tier1 - - 35 0 0.00 36 6 14.29 OR52K2 0 genome.wustl.edu 37 11 4470965 4470965 + Silent SNP G G T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 11 4470965 4470965 G T SNP OR52K2 ENST00000325719 human ensembl 74_37 +1 known silent c.396 p.L132 0.986 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52K2 HGNC ENSG00000181963 tier1 - - 75 0 0.00 37 54 58.70 OR6C74 0 genome.wustl.edu 37 12 55641873 55641873 + Missense_Mutation SNP T T A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 12 55641873 55641873 T A SNP OR6C74 ENST00000343870 human ensembl 74_37 +1 known missense c.802 p.L268I 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C74 HGNC ENSG00000197706 tier1 - - 26 0 0.00 15 18 54.55 PABPC5 0 genome.wustl.edu 37 X 90690649 90690649 + Missense_Mutation SNP T T G TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 X 90690649 90690649 T G SNP PABPC5 ENST00000312600 human ensembl 74_37 +1 known missense c.73 p.L25V 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC5 HGNC ENSG00000174740 tier1 - - 22 0 0.00 3 24 88.89 PARP8 0 genome.wustl.edu 37 5 50091052 50091052 + Missense_Mutation SNP C C G TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 5 50091052 50091052 C G SNP PARP8 ENST00000281631 human ensembl 74_37 +1 known missense c.1229 p.S410C 1.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP8 HGNC ENSG00000151883 tier1 - - 44 0 0.00 28 6 17.65 PCDH9 0 genome.wustl.edu 37 13 67799860 67799860 + Missense_Mutation SNP T T C TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 13 67799860 67799860 T C SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known missense c.2713 p.S905G 1.000 pfam_Protocadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 tier1 - - 35 0 0.00 29 10 25.64 PCDHA11 0 genome.wustl.edu 37 5 140250658 140250658 + Missense_Mutation SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 5 140250658 140250658 C T SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known missense c.1970 p.A657V 0.025 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 tier1 - - 52 0 0.00 64 11 14.67 PCDHA5 0 genome.wustl.edu 37 5 140201528 140201528 + Silent SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 5 140201528 140201528 G A SNP PCDHA5 ENST00000529859 human ensembl 74_37 +1 known silent c.168 p.A56 0.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA5 HGNC ENSG00000204965 tier1 - - 60 0 0.00 49 6 10.91 PCDHB1 0 genome.wustl.edu 37 5 140431977 140431977 + Missense_Mutation SNP G G T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 5 140431977 140431977 G T SNP PCDHB1 ENST00000306549 human ensembl 74_37 +1 known missense c.922 p.D308Y 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB1 HGNC ENSG00000171815 32 0 0.00 25 2 7.41 PCDHB16 0 genome.wustl.edu 37 5 140563423 140563423 + Missense_Mutation SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 5 140563423 140563423 G A SNP PCDHB16 ENST00000361016 human ensembl 74_37 +1 known missense c.1289 p.R430K 0.840 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB16 HGNC ENSG00000196963 tier1 - - 74 0 0.00 18 24 55.81 PDE8B 0 genome.wustl.edu 37 5 76707514 76707514 + Missense_Mutation SNP G G C TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 5 76707514 76707514 G C SNP PDE8B ENST00000264917 human ensembl 74_37 +1 known missense c.1544 p.R515T 1.000 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_PDE8,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,pfam_PAS_fold_3,superfamily_PAS,superfamily_CheY-like_superfamily,smart_PAS,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS - no_errors PDE8B HGNC ENSG00000113231 tier1 - - 56 0 0.00 16 22 57.89 PDZRN3 0 genome.wustl.edu 37 3 73433145 73433145 + Missense_Mutation SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 3 73433145 73433145 C T SNP PDZRN3 ENST00000263666 human ensembl 74_37 -1 known missense c.2572 p.A858T 0.036 NULL pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors PDZRN3 HGNC ENSG00000121440 tier1 - - 49 0 0.00 36 37 50.68 PHF21B 0 genome.wustl.edu 37 22 45309798 45309798 + Silent SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 22 45309798 45309798 C T SNP PHF21B ENST00000313237 human ensembl 74_37 -1 known silent c.735 p.T245 0.003 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21B HGNC ENSG00000056487 tier1 rs147703835 - 68 0 0.00 54 12 18.18 POC5 0 genome.wustl.edu 37 5 74990572 74990572 + Missense_Mutation SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 5 74990572 74990572 G A SNP POC5 ENST00000428202 human ensembl 74_37 -1 known missense c.598 p.H200Y 0.998 NULL NULL - no_errors POC5 HGNC ENSG00000152359 tier1 rs201679415 - 29 0 0.00 4 13 76.47 POM121L2 0 genome.wustl.edu 37 6 27278728 27278728 + Silent SNP A A G TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 6 27278728 27278728 A G SNP POM121L2 ENST00000444565 human ensembl 74_37 -1 known silent c.1222 p.L408 0.000 NULL NULL - no_errors POM121L2 HGNC ENSG00000158553 tier1 - - 28 0 0.00 26 14 35.00 PPFIA3 0 genome.wustl.edu 37 19 49652560 49652560 + Missense_Mutation SNP G G T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 19 49652560 49652560 G T SNP PPFIA3 ENST00000334186 human ensembl 74_37 +1 known missense c.3332 p.G1111V 1.000 superfamily_SAM/pointed pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA3 HGNC ENSG00000177380 36 0 0.00 41 3 6.82 PRAMEF12 0 genome.wustl.edu 37 1 12835214 12835214 + Silent SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 1 12835214 12835214 C T SNP PRAMEF12 ENST00000357726 human ensembl 74_37 +1 known silent c.204 p.S68 0.005 NULL NULL - no_errors PRAMEF12 HGNC ENSG00000116726 tier1 - - 100 0 0.00 39 54 58.06 PRAMEF6 0 genome.wustl.edu 37 1 13001274 13001274 + Missense_Mutation SNP C C G TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 1 13001274 13001274 C G SNP PRAMEF6 ENST00000355096 human ensembl 74_37 -1 known missense c.409 p.D137H 0.000 NULL NULL - no_errors PRAMEF6 HGNC ENSG00000232423 tier1 - - 404 0 0.00 359 27 6.99 PRKD1 0 genome.wustl.edu 37 14 30066913 30066913 + Silent SNP G G T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 14 30066913 30066913 G T SNP PRKD1 ENST00000331968 human ensembl 74_37 -1 known silent c.2218 p.R740 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_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 22 0 0.00 36 2 5.26 PROX1 0 genome.wustl.edu 37 1 214171262 214171262 + Missense_Mutation SNP C C A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 1 214171262 214171262 C A SNP PROX1 ENST00000261454 human ensembl 74_37 +1 known missense c.1384 p.Q462K 1.000 pfam_Homeo_prospero_dom pfam_Homeo_prospero_dom,superfamily_Homeodomain-like - no_errors PROX1 HGNC ENSG00000117707 tier1 - - 26 0 0.00 18 20 52.63 PSG11 0 genome.wustl.edu 37 19 43523013 43523013 + Silent SNP A A G TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 19 43523013 43523013 A G SNP PSG11 ENST00000320078 human ensembl 74_37 -1 known silent c.618 p.G206 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG11 HGNC ENSG00000243130 tier1 - - 190 0 0.00 154 120 43.80 PUM2 0 genome.wustl.edu 37 2 20458106 20458106 + Silent SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 2 20458106 20458106 G A SNP PUM2 ENST00000361078 human ensembl 74_37 -1 known silent c.2382 p.A794 0.992 superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM2 HGNC ENSG00000055917 tier1 - - 35 0 0.00 46 23 33.33 QRICH1 0 genome.wustl.edu 37 3 49094421 49094421 + Silent SNP G G T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 3 49094421 49094421 G T SNP QRICH1 ENST00000357496 human ensembl 74_37 -1 known silent c.1212 p.G404 1.000 NULL pfam_DUF3504,superfamily_DEATH-like_dom - no_errors QRICH1 HGNC ENSG00000198218 35 0 0.00 44 4 8.33 RANBP17 0 genome.wustl.edu 37 5 170351515 170351515 + Missense_Mutation SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 5 170351515 170351515 C T SNP RANBP17 ENST00000523189 human ensembl 74_37 +1 known missense c.1429 p.P477S 0.981 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors RANBP17 HGNC ENSG00000204764 30 0 0.00 19 3 13.64 RELN 0 genome.wustl.edu 37 7 103338429 103338429 + Silent SNP C C A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 7 103338429 103338429 C A SNP RELN ENST00000424685 human ensembl 74_37 -1 known silent c.1014 p.V338 0.997 NULL pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 tier1 - - 59 0 0.00 68 41 37.61 RHBDF2 0 genome.wustl.edu 37 17 74468104 74468104 + Missense_Mutation SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 17 74468104 74468104 G A SNP RHBDF2 ENST00000313080 human ensembl 74_37 -1 known missense c.2182 p.L728F 1.000 pfam_Peptidase_S54_rhomboid_dom pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDF2 HGNC ENSG00000129667 tier1 - - 29 0 0.00 22 6 21.43 RHCG 0 genome.wustl.edu 37 15 90026363 90026363 + Missense_Mutation SNP T T C TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 15 90026363 90026363 T C SNP RHCG ENST00000268122 human ensembl 74_37 -1 known missense c.457 p.I153V 1.000 pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHCG HGNC ENSG00000140519 tier1 - - 39 0 0.00 25 80 76.19 RIMS1 0 genome.wustl.edu 37 6 73111022 73111022 + RNA SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 6 73111022 73111022 C T SNP RIMS1 ENST00000431478 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RIMS1 HGNC ENSG00000079841 tier1 - - 35 0 0.00 23 4 14.81 RNA5SP476 0 genome.wustl.edu 37 20 18414516 18414516 + RNA SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 20 18414516 18414516 G A SNP RNA5SP476 ENST00000516613 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors RNA5SP476 HGNC ENSG00000252422 tier1 - - 13 0 0.00 6 7 53.85 RNF8 0 genome.wustl.edu 37 6 37342482 37342482 + Silent SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 6 37342482 37342482 C T SNP RNF8 ENST00000373479 human ensembl 74_37 +1 known silent c.1125 p.T375 1.000 pirsf_E3_Ub_ligase_RNF8 pfam_FHA_dom,pfam_Znf_C3HC4_RING-type,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Znf_RING,pirsf_E3_Ub_ligase_RNF8,pfscan_FHA_dom,pfscan_Znf_RING - no_errors RNF8 HGNC ENSG00000112130 tier1 - - 36 0 0.00 42 4 8.70 ROBO2 0 genome.wustl.edu 37 3 77657037 77657038 + Frame_Shift_Ins INS - - C TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 3 77657037 77657038 - C INS ROBO2 ENST00000461745 human ensembl 74_37 +1 known frame_shift_ins c.3225_3226 p.V1078fs 1.000:1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 tier1 19 0 0.00 40 6 13.04 RPL7A 0 genome.wustl.edu 37 9 136217908 136217909 + Frame_Shift_Ins INS - - A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 9 136217908 136217909 - A INS RPL7A ENST00000323345 human ensembl 74_37 +1 known frame_shift_ins c.678_679 p.N226fs 1.000:1.000 prints_Ribosomal_L7A/L8 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,prints_Ribosomal_L7A/L8,prints_Ribosomal_L7Ae/L8/Nhp2 - no_errors RPL7A HGNC ENSG00000148303 tier1 46 0 0.00 27 21 43.75 RRAGB 0 genome.wustl.edu 37 X 55744781 55744781 + Missense_Mutation SNP G G T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 X 55744781 55744781 G T SNP RRAGB ENST00000262850 human ensembl 74_37 +1 known missense c.21 p.E7D 1.000 NULL pfam_Gtr1_RagA,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase - no_errors RRAGB HGNC ENSG00000083750 27 0 0.00 31 4 11.43 RRS1 0 genome.wustl.edu 37 8 67342324 67342324 + Frame_Shift_Del DEL G G - TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 8 67342324 67342324 G - DEL RRS1 ENST00000320270 human ensembl 74_37 +1 known frame_shift_del c.958 p.G321fs 0.901 NULL pfam_Ribosom_reg - no_errors RRS1 HGNC ENSG00000179041 tier1 9 0 0.00 14 11 44.00 RXRA 0 genome.wustl.edu 37 9 137321027 137321027 + Silent SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 9 137321027 137321027 C T SNP RXRA ENST00000481739 human ensembl 74_37 +1 known silent c.984 p.T328 0.954 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Retinoid-X_rcpt/HNF4,prints_Retinoic_acid_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Nuc_recep-AF1,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoic_acid_rcpt - no_errors RXRA HGNC ENSG00000186350 tier1 - - 28 0 0.00 27 6 18.18 SCN5A 0 genome.wustl.edu 37 3 38645355 38645355 + Missense_Mutation SNP T T G TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 3 38645355 38645355 T G SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.1738 p.T580P 0.012 pfam_DUF3451 pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 39 0 0.00 42 3 6.67 SCN8A 0 genome.wustl.edu 37 12 52156381 52156381 + Missense_Mutation SNP G G T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 12 52156381 52156381 G T SNP SCN8A ENST00000354534 human ensembl 74_37 +1 known missense c.2465 p.G822V 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 28 0 0.00 47 3 6.00 SCNN1G 0 genome.wustl.edu 37 16 23226040 23226040 + Missense_Mutation SNP T T G TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 16 23226040 23226040 T G SNP SCNN1G ENST00000300061 human ensembl 74_37 +1 known missense c.1501 p.L501V 0.999 pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1G HGNC ENSG00000166828 tier1 - - 31 0 0.00 20 16 44.44 SDC1 0 genome.wustl.edu 37 2 20423047 20423048 + RNA INS - - A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 2 20423047 20423048 - A INS SDC1 ENST00000482879 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.002 - - - no_errors SDC1 HGNC ENSG00000115884 tier1 60 0 0.00 50 6 10.71 SEC14L5 0 genome.wustl.edu 37 16 5009357 5009357 + Silent SNP C C A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 16 5009357 5009357 C A SNP SEC14L5 ENST00000251170 human ensembl 74_37 +1 known silent c.33 p.V11 0.988 pfscan_PRELI/MSF1 pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1,prints_CRAL-bd_toc_tran - no_errors SEC14L5 HGNC ENSG00000103184 tier1 - - 88 0 0.00 25 45 64.29 SENP2 0 genome.wustl.edu 37 3 185304241 185304241 + Missense_Mutation SNP C C A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 3 185304241 185304241 C A SNP SENP2 ENST00000296257 human ensembl 74_37 +1 known missense c.40 p.R14S 1.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP2 HGNC ENSG00000163904 tier1 - - 88 0 0.00 147 34 18.78 SETX 0 genome.wustl.edu 37 9 135209997 135209997 + Missense_Mutation SNP T T A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 9 135209997 135209997 T A SNP SETX ENST00000372169 human ensembl 74_37 -1 known missense c.836 p.D279V 0.616 NULL superfamily_P-loop_NTPase - no_errors SETX HGNC ENSG00000107290 tier1 - - 50 0 0.00 51 25 32.89 SGK223 0 genome.wustl.edu 37 8 8235035 8235035 + Missense_Mutation SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 8 8235035 8235035 G A SNP SGK223 ENST00000330777 human ensembl 74_37 -1 known missense c.884 p.S295F 0.001 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors SGK223 Uniprot_gn ENSG00000182319 tier1 - - 24 0 0.00 27 10 27.03 SGK3 0 genome.wustl.edu 37 8 67748200 67748200 + Missense_Mutation SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 8 67748200 67748200 G A SNP SGK3 ENST00000345714 human ensembl 74_37 +1 known missense c.632 p.R211H 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Phox,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Phox,pfscan_Prot_kinase_dom - no_errors SGK3 HGNC ENSG00000104205 tier1 - - 37 0 0.00 31 25 44.64 SHROOM2 0 genome.wustl.edu 37 X 9912763 9912763 + Missense_Mutation SNP A A T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 X 9912763 9912763 A T SNP SHROOM2 ENST00000380913 human ensembl 74_37 +1 known missense c.4394 p.N1465I 1.000 pfam_ASD2 pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 tier1 - - 31 0 0.00 6 36 85.71 SIM1 0 genome.wustl.edu 37 6 100841708 100841708 + Missense_Mutation SNP T T G TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 6 100841708 100841708 T G SNP SIM1 ENST00000262901 human ensembl 74_37 -1 known missense c.1225 p.S409R 0.998 pfam_SIM_C pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom - no_errors SIM1 HGNC ENSG00000112246 tier1 - - 8 0 0.00 17 10 37.04 SLA 0 genome.wustl.edu 37 8 134063088 134063088 + Missense_Mutation SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 8 134063088 134063088 C T SNP SLA ENST00000427060 human ensembl 74_37 -1 known missense c.254 p.R85Q 0.019 pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2 - no_errors SLA HGNC ENSG00000155926 tier1 - - 33 0 0.00 36 19 34.55 SLC12A2 0 genome.wustl.edu 37 5 127514328 127514328 + Missense_Mutation SNP A A T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 5 127514328 127514328 A T SNP SLC12A2 ENST00000262461 human ensembl 74_37 +1 known missense c.3047 p.Q1016L 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt1,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A2 HGNC ENSG00000064651 tier1 - - 33 0 0.00 8 18 69.23 SLC13A3 0 genome.wustl.edu 37 20 45212106 45212106 + RNA SNP A A T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 20 45212106 45212106 A T SNP SLC13A3 ENST00000464518 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SLC13A3 HGNC ENSG00000158296 tier1 - - 24 0 0.00 8 28 77.78 SLC29A4 0 genome.wustl.edu 37 7 5330775 5330775 + Missense_Mutation SNP A A G TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 7 5330775 5330775 A G SNP SLC29A4 ENST00000297195 human ensembl 74_37 +1 known missense c.322 p.M108V 1.000 superfamily_MFS_dom_general_subst_transpt pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt - no_errors SLC29A4 HGNC ENSG00000164638 tier1 rs149798710 - 51 0 0.00 65 10 13.33 SLC2A9 0 genome.wustl.edu 37 4 10027510 10027510 + RNA DEL A A - TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 4 10027510 10027510 A - DEL SLC2A9 ENST00000509214 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SLC2A9 HGNC ENSG00000109667 tier1 43 0 0.00 26 3 10.34 SLC35F5 0 genome.wustl.edu 37 2 114512764 114512764 + Missense_Mutation SNP A A G TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 2 114512764 114512764 A G SNP SLC35F5 ENST00000245680 human ensembl 74_37 -1 known missense c.251 p.V84A 0.998 NULL pfam_DMT - no_errors SLC35F5 HGNC ENSG00000115084 15 0 0.00 13 2 13.33 SLC5A12 0 genome.wustl.edu 37 11 26743234 26743234 + Missense_Mutation SNP C C A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 11 26743234 26743234 C A SNP SLC5A12 ENST00000396005 human ensembl 74_37 -1 known missense c.28 p.D10Y 1.000 pfscan_Na/solute_symporter pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A12 HGNC ENSG00000148942 tier1 - - 10 0 0.00 0 6 100.00 SLC7A14 0 genome.wustl.edu 37 3 170198216 170198216 + Missense_Mutation SNP G G T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 3 170198216 170198216 G T SNP SLC7A14 ENST00000231706 human ensembl 74_37 -1 known missense c.1855 p.P619T 1.000 NULL pfam_AA-permease/SLC12A_dom - no_errors SLC7A14 HGNC ENSG00000013293 tier1 - - 35 0 0.00 70 4 5.33 SMAD4 0 genome.wustl.edu 37 18 48593406 48593406 + Missense_Mutation SNP G G T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 18 48593406 48593406 G T SNP SMAD4 ENST00000342988 human ensembl 74_37 +1 known missense c.1157 p.G386V 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 tier1 - - 28 0 0.00 13 13 50.00 SNORA72 0 genome.wustl.edu 37 8 99054836 99054837 + RNA INS - - AAA TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 8 99054836 99054837 - AAA INS SNORA72 ENST00000501016 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.049 - - - no_errors KB-1208A12.3 Clone_based_vega_gene ENSG00000245970 tier1 21 0 0.00 22 5 18.52 SPTB 0 genome.wustl.edu 37 14 65253541 65253541 + Missense_Mutation SNP G G T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 14 65253541 65253541 G T SNP SPTB ENST00000389722 human ensembl 74_37 -1 known missense c.3142 p.Q1048K 0.505 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTB HGNC ENSG00000070182 tier1 - - 15 0 0.00 9 4 30.77 STARD13 0 genome.wustl.edu 37 13 33685942 33685942 + Missense_Mutation SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 13 33685942 33685942 C T SNP STARD13 ENST00000336934 human ensembl 74_37 -1 known missense c.2580 p.M860I 1.000 superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD13 HGNC ENSG00000133121 tier1 - - 45 0 0.00 65 9 12.16 STX5 0 genome.wustl.edu 37 11 62591960 62591960 + Missense_Mutation SNP T T G TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 11 62591960 62591960 T G SNP STX5 ENST00000294179 human ensembl 74_37 -1 known missense c.757 p.S253R 1.000 superfamily_t-SNARE pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX5 HGNC ENSG00000162236 tier1 - - 48 0 0.00 42 4 8.70 SULF1 0 genome.wustl.edu 37 8 70571058 70571058 + RNA SNP A A C TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 8 70571058 70571058 A C SNP SULF1 ENST00000521946 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SULF1 HGNC ENSG00000137573 tier1 - - 23 0 0.00 23 4 14.81 SYNGAP1 0 genome.wustl.edu 37 6 33409093 33409093 + Missense_Mutation SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 6 33409093 33409093 G A SNP SYNGAP1 ENST00000418600 human ensembl 74_37 +1 known missense c.2057 p.G686D 1.000 superfamily_Rho_GTPase_activation_prot,smart_RasGAP 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 46 0 0.00 33 3 8.33 TAC4 0 genome.wustl.edu 37 17 47917252 47917252 + Silent SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 17 47917252 47917252 C T SNP TAC4 ENST00000334568 human ensembl 74_37 -1 known silent c.270 p.T90 0.000 NULL NULL - no_errors TAC4 HGNC ENSG00000176358 tier1 - - 52 0 0.00 53 15 22.06 TAF5L 0 genome.wustl.edu 37 1 229738643 229738643 + Nonsense_Mutation SNP C C A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 1 229738643 229738643 C A SNP TAF5L ENST00000258281 human ensembl 74_37 -1 known nonsense c.271 p.E91* 1.000 pfam_TFIID-su_WD40-assoc_reg pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TAF5L HGNC ENSG00000135801 tier1 - - 66 0 0.00 51 11 17.74 TARBP2 0 genome.wustl.edu 37 12 53898440 53898440 + Frame_Shift_Del DEL T T - TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 12 53898440 53898440 T - DEL TARBP2 ENST00000549572 human ensembl 74_37 +1 known frame_shift_del c.477 p.F161fs 0.000 NULL pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors TARBP2 HGNC ENSG00000139546 tier1 20 0 0.00 26 2 7.14 TBR1 0 genome.wustl.edu 37 2 162275468 162275468 + Silent SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 2 162275468 162275468 C T SNP TBR1 ENST00000389554 human ensembl 74_37 +1 known silent c.1035 p.D345 0.973 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBR1 HGNC ENSG00000136535 tier1 - - 40 0 0.00 52 7 11.86 TBX3 0 genome.wustl.edu 37 12 115112602 115112602 + Missense_Mutation SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 12 115112602 115112602 C T SNP TBX3 ENST00000257566 human ensembl 74_37 -1 known missense c.1138 p.E380K 0.996 pfam_TBX pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX3 HGNC ENSG00000135111 tier1 - - 30 0 0.00 26 18 40.91 TIGD7 0 genome.wustl.edu 37 16 3350367 3350367 + Missense_Mutation SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 16 3350367 3350367 G A SNP TIGD7 ENST00000268674 human ensembl 74_37 -1 known missense c.248 p.A83V 1.000 pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD7 HGNC ENSG00000140993 29 0 0.00 30 3 9.09 TMCO5B 0 genome.wustl.edu 37 15 33537641 33537641 + Splice_Site SNP T T C TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 15 33537641 33537641 T C SNP TMCO5B ENST00000530871 human ensembl 74_37 -1 known splice_site c.NULL NULL 0.992 - - - no_errors TMCO5B HGNC ENSG00000215296 tier1 - - 16 0 0.00 40 9 18.37 TMEM132B 0 genome.wustl.edu 37 12 125834406 125834406 + Missense_Mutation SNP A A G TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 12 125834406 125834406 A G SNP TMEM132B ENST00000299308 human ensembl 74_37 +1 known missense c.461 p.E154G 0.963 NULL NULL - no_errors TMEM132B HGNC ENSG00000139364 tier1 - - 36 0 0.00 27 5 15.62 TMEM168 0 genome.wustl.edu 37 7 112407652 112407652 + Missense_Mutation SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 7 112407652 112407652 G A SNP TMEM168 ENST00000312814 human ensembl 74_37 -1 known missense c.1694 p.A565V 1.000 NULL superfamily_ConA-like_lec_gl_sf - no_errors TMEM168 HGNC ENSG00000146802 tier1 - - 35 0 0.00 56 4 6.67 TMEM255B 0 genome.wustl.edu 37 13 114504678 114504678 + Missense_Mutation SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 13 114504678 114504678 G A SNP TMEM255B ENST00000375353 human ensembl 74_37 +1 known missense c.562 p.D188N 1.000 NULL NULL - no_errors TMEM255B HGNC ENSG00000184497 tier1 - - 83 0 0.00 47 20 29.85 TP53 0 genome.wustl.edu 37 17 7579377 7579378 + Frame_Shift_Ins INS - - GT TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 17 7579377 7579378 - GT INS TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_ins c.310_309 p.Q103fs 0.934:0.998 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 260 0 0.00 200 109 35.28 TRAM1L1 0 genome.wustl.edu 37 4 118006215 118006215 + Missense_Mutation SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 4 118006215 118006215 G A SNP TRAM1L1 ENST00000310754 human ensembl 74_37 -1 known missense c.335 p.T112I 1.000 pfam_TRAM1,pirsf_Translocation_assoc_membrane pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom - no_errors TRAM1L1 HGNC ENSG00000174599 tier1 - - 45 0 0.00 18 27 60.00 TRO 0 genome.wustl.edu 37 X 54949885 54949885 + Missense_Mutation SNP G G T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 X 54949885 54949885 G T SNP TRO ENST00000173898 human ensembl 74_37 +1 known missense c.920 p.S307I 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors TRO HGNC ENSG00000067445 tier1 - - 13 0 0.00 5 24 82.76 TROVE2 0 genome.wustl.edu 37 1 193051321 193051321 + Silent SNP C C G TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 1 193051321 193051321 C G SNP TROVE2 ENST00000367441 human ensembl 74_37 +1 known silent c.1209 p.V403 0.989 NULL pfam_TROVE,pfscan_TROVE - no_errors TROVE2 HGNC ENSG00000116747 tier1 - - 36 0 0.00 42 5 10.64 TRPM3 0 genome.wustl.edu 37 9 73457998 73457998 + Missense_Mutation SNP T T G TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 9 73457998 73457998 T G SNP TRPM3 ENST00000423814 human ensembl 74_37 -1 known missense c.728 p.K243T 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 tier1 - - 29 0 0.00 19 12 38.71 TRPS1 0 genome.wustl.edu 37 8 116599552 116599552 + Missense_Mutation SNP T T G TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 8 116599552 116599552 T G SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known missense c.2376 p.K792N 0.662 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 tier1 - - 38 0 0.00 37 23 38.33 TTN 0 genome.wustl.edu 37 2 179489321 179489321 + Nonsense_Mutation SNP T T A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 2 179489321 179489321 T A SNP TTN ENST00000342992 human ensembl 74_37 -1 known nonsense c.36982 p.K12328* 1.000 pfam_Ig_I-set,pfam_Ig_V-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 - - 32 0 0.00 48 7 12.73 TTN 0 genome.wustl.edu 37 2 179547580 179547580 + Missense_Mutation SNP C C G TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 2 179547580 179547580 C G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.29206 p.A9736P 0.094 superfamily_Calpain_domain_III,superfamily_RNaseH-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 - - 78 0 0.00 73 27 27.00 TTN 0 genome.wustl.edu 37 2 179637875 179637875 + Missense_Mutation SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 2 179637875 179637875 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.7816 p.A2606T 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub 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 - - 35 0 0.00 16 18 52.94 TUBA8 0 genome.wustl.edu 37 22 18609304 18609304 + Missense_Mutation SNP T T C TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 22 18609304 18609304 T C SNP TUBA8 ENST00000330423 human ensembl 74_37 +1 known missense c.559 p.S187P 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA8 HGNC ENSG00000183785 tier1 - - 64 0 0.00 35 4 10.26 UPF2 0 genome.wustl.edu 37 10 11994105 11994105 + Silent SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 10 11994105 11994105 C T SNP UPF2 ENST00000356352 human ensembl 74_37 -1 known silent c.2994 p.R998 1.000 superfamily_ARM-type_fold pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors UPF2 HGNC ENSG00000151461 37 0 0.00 19 2 9.52 USP17L2 0 genome.wustl.edu 37 8 11995298 11995298 + Silent SNP G G C TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 8 11995298 11995298 G C SNP USP17L2 ENST00000333796 human ensembl 74_37 -1 known silent c.972 p.V324 0.995 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19/C67 - no_errors USP17L2 HGNC ENSG00000223443 tier1 - - 84 0 0.00 115 15 11.54 UTP20 0 genome.wustl.edu 37 12 101774935 101774935 + Silent SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 12 101774935 101774935 C T SNP UTP20 ENST00000261637 human ensembl 74_37 +1 known silent c.7602 p.L2534 0.923 NULL pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 tier1 - - 24 0 0.00 14 9 39.13 VWC2 0 genome.wustl.edu 37 7 49815635 49815635 + Missense_Mutation SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 7 49815635 49815635 G A SNP VWC2 ENST00000340652 human ensembl 74_37 +1 known missense c.604 p.V202I 1.000 smart_VWF_C pfam_VWF_C,smart_VWF_C,pfscan_VWF_C - no_errors VWC2 HGNC ENSG00000188730 tier1 - - 18 0 0.00 13 11 45.83 VWC2L 0 genome.wustl.edu 37 2 215440493 215440493 + Missense_Mutation SNP G G T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 2 215440493 215440493 G T SNP VWC2L ENST00000312504 human ensembl 74_37 +1 known missense c.618 p.W206C 1.000 NULL smart_VWF_C,pfscan_VWF_C - no_errors VWC2L HGNC ENSG00000174453 tier1 - - 61 0 0.00 68 8 10.53 WDR64 0 genome.wustl.edu 37 1 241886718 241886718 + Missense_Mutation SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 1 241886718 241886718 G A SNP WDR64 ENST00000366552 human ensembl 74_37 +1 known missense c.1144 p.V382I 0.985 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR64 HGNC ENSG00000162843 tier1 - - 16 0 0.00 17 10 37.04 WHSC1L1 0 genome.wustl.edu 37 8 38175279 38175280 + RNA INS - - A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 8 38175279 38175280 - A INS WHSC1L1 ENST00000525081 human ensembl 74_37 -1 known rna NULL NULL 0.635:0.998 - - - no_errors WHSC1L1 HGNC ENSG00000147548 tier1 12 0 0.00 24 6 20.00 WNT5B 0 genome.wustl.edu 37 12 1742006 1742006 + Missense_Mutation SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 12 1742006 1742006 G A SNP WNT5B ENST00000310594 human ensembl 74_37 +1 known missense c.263 p.R88Q 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT5B HGNC ENSG00000111186 tier1 rs200966877 - 38 0 0.00 39 13 25.00 XIRP2 0 genome.wustl.edu 37 2 168105196 168105196 + Missense_Mutation SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 2 168105196 168105196 C T SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.7294 p.H2432Y 0.001 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 tier1 - - 34 0 0.00 31 4 11.43 ZFAT 0 genome.wustl.edu 37 8 135614670 135614670 + Missense_Mutation SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 8 135614670 135614670 G A SNP ZFAT ENST00000377838 human ensembl 74_37 -1 known missense c.1292 p.P431L 1.000 pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ENSG00000066827 tier1 - - 27 0 0.00 23 15 39.47 ZFHX2 0 genome.wustl.edu 37 14 24002107 24002107 + Missense_Mutation SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 14 24002107 24002107 C T SNP ZFHX2 ENST00000419474 human ensembl 74_37 -1 known missense c.2228 p.R743Q 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX2 HGNC ENSG00000136367 28 0 0.00 25 3 10.71 ZNF18 0 genome.wustl.edu 37 17 11881337 11881337 + Missense_Mutation SNP G G T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 17 11881337 11881337 G T SNP ZNF18 ENST00000322748 human ensembl 74_37 -1 known missense c.1587 p.F529L 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 ZNF18 HGNC ENSG00000154957 tier1 - - 57 0 0.00 57 4 6.56 ZNF528 0 genome.wustl.edu 37 19 52919173 52919173 + Missense_Mutation SNP A A C TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 19 52919173 52919173 A C SNP ZNF528 ENST00000360465 human ensembl 74_37 +1 known missense c.1068 p.E356D 0.001 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 ZNF528 HGNC ENSG00000167555 tier1 - - 25 0 0.00 26 7 21.21 ZNF559 0 genome.wustl.edu 37 19 9449867 9449867 + Splice_Site SNP A A C TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 19 9449867 9449867 A C SNP ZNF559 ENST00000393883 human ensembl 74_37 +1 known splice_site c.34-2 e2-2 0.988 - - - no_errors ZNF559 HGNC ENSG00000188321 tier1 - - 107 0 0.00 98 18 15.52 ZNF567 0 genome.wustl.edu 37 19 37211536 37211536 + Missense_Mutation SNP G G T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 19 37211536 37211536 G T SNP ZNF567 ENST00000536254 human ensembl 74_37 +1 known missense c.1910 p.R637I 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 ZNF567 HGNC ENSG00000189042 tier1 rs146394117 - 45 0 0.00 39 23 37.10 ZNF570 0 genome.wustl.edu 37 19 37976049 37976049 + Missense_Mutation SNP C C A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 19 37976049 37976049 C A SNP ZNF570 ENST00000330173 human ensembl 74_37 +1 known missense c.1525 p.Q509K 0.667 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 ZNF570 HGNC ENSG00000171827 tier1 - - 35 0 0.00 46 22 32.35 ZNF729 0 genome.wustl.edu 37 19 22498360 22498360 + Missense_Mutation SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 19 22498360 22498360 G A SNP ZNF729 ENST00000601693 human ensembl 74_37 +1 novel missense c.2141 p.C714Y 0.633 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 28 11 28.21 ZSWIM5 0 genome.wustl.edu 37 1 45504721 45504721 + Missense_Mutation SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7aeafb55-1cdd-4496-83c4-1a7360effc90 bdf32094-4e16-4cea-906e-c047bf493e06 1 45504721 45504721 G A SNP ZSWIM5 ENST00000359600 human ensembl 74_37 -1 known missense c.1781 p.T594I 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM5 HGNC ENSG00000162415 tier1 - - 11 0 0.00 12 7 36.84