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 A2M 0 genome.wustl.edu 37 12 9268504 9268504 + RNA SNP C C G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 12 9268504 9268504 C G SNP A2M ENST00000467091 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors A2M HGNC ENSG00000175899 tier1 - - 25 0 0.00 25 7 21.88 ABCB4 0 genome.wustl.edu 37 7 87046712 87046712 + Missense_Mutation SNP A A C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 7 87046712 87046712 A C SNP ABCB4 ENST00000265723 human ensembl 74_37 -1 known missense c.2598 p.I866M 0.796 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB4 HGNC ENSG00000005471 tier1 - - 30 0 0.00 46 10 17.86 ABCC9 0 genome.wustl.edu 37 12 22086848 22086848 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 12 22086848 22086848 C T SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known missense c.152 p.S51N 1.000 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,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 tier1 - - 44 0 0.00 56 4 6.67 ACSM2A 0 genome.wustl.edu 37 16 20480934 20480934 + Silent SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 16 20480934 20480934 C T SNP ACSM2A ENST00000219054 human ensembl 74_37 +1 known silent c.489 p.V163 0.350 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM2A HGNC ENSG00000183747 tier1 - - 71 0 0.00 44 21 32.31 ADAM29 0 genome.wustl.edu 37 4 175898111 175898111 + Missense_Mutation SNP T T G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 4 175898111 175898111 T G SNP ADAM29 ENST00000359240 human ensembl 74_37 +1 known missense c.1435 p.F479V 0.420 pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM29 HGNC ENSG00000168594 tier1 - - 25 0 0.00 17 8 32.00 ADAMTS19 0 genome.wustl.edu 37 5 128864278 128864278 + Missense_Mutation SNP A A C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 5 128864278 128864278 A C SNP ADAMTS19 ENST00000274487 human ensembl 74_37 +1 known missense c.1218 p.E406D 1.000 pfam_Peptidase_M12B,pfam_Pept_M10_metallopeptidase,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 tier1 - - 56 0 0.00 50 23 31.51 ADCY1 0 genome.wustl.edu 37 7 45725592 45725592 + Missense_Mutation SNP A A T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 7 45725592 45725592 A T SNP ADCY1 ENST00000297323 human ensembl 74_37 +1 known missense c.2105 p.K702M 0.012 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ENSG00000164742 tier1 - - 28 0 0.00 17 5 21.74 ADGB 0 genome.wustl.edu 37 6 147014047 147014047 + Missense_Mutation SNP G G C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 6 147014047 147014047 G C SNP ADGB ENST00000397944 human ensembl 74_37 +1 known missense c.1573 p.E525Q 0.986 smart_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,superfamily_Globin-like,smart_Peptidase_C2_calpain_cat,pfscan_IQ_motif_EF-hand-BS,pfscan_Peptidase_C2_calpain_cat - no_errors ADGB HGNC ENSG00000118492 tier1 - - 63 0 0.00 46 34 42.50 AKAP3 0 genome.wustl.edu 37 12 4736754 4736754 + Silent SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 12 4736754 4736754 G A SNP AKAP3 ENST00000228850 human ensembl 74_37 -1 known silent c.1314 p.P438 0.049 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP3 HGNC ENSG00000111254 tier1 - - 16 0 0.00 20 10 33.33 AKAP6 0 genome.wustl.edu 37 14 33291901 33291901 + Missense_Mutation SNP C C G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 14 33291901 33291901 C G SNP AKAP6 ENST00000280979 human ensembl 74_37 +1 known missense c.4882 p.L1628V 1.000 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 tier1 - - 16 0 0.00 15 5 25.00 ALCAM 0 genome.wustl.edu 37 3 105086285 105086285 + Silent SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 3 105086285 105086285 G A SNP ALCAM ENST00000306107 human ensembl 74_37 +1 known silent c.33 p.L11 1.000 NULL pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors ALCAM HGNC ENSG00000170017 tier1 - - 36 0 0.00 48 12 20.00 ALDH1L1 0 genome.wustl.edu 37 3 125876244 125876244 + Missense_Mutation SNP T T C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 3 125876244 125876244 T C SNP ALDH1L1 ENST00000393434 human ensembl 74_37 -1 known missense c.470 p.D157G 0.915 pfam_Formyl_transf_N,superfamily_Formyl_transf_N,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L1 HGNC ENSG00000144908 tier1 - - 38 0 0.00 42 12 22.22 ALG13 0 genome.wustl.edu 37 X 110951378 110951378 + Silent SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c X 110951378 110951378 G A SNP ALG13 ENST00000251943 human ensembl 74_37 +1 known silent c.195 p.L65 1.000 NULL pfam_OTU,pfscan_OTU,pfscan_Tudor - no_errors ALG13 HGNC ENSG00000101901 39 0 0.00 45 4 8.16 ALS2 0 genome.wustl.edu 37 2 202598174 202598175 + RNA INS - - A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 2 202598174 202598175 - A INS ALS2 ENST00000494017 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.002 - - - no_errors ALS2 HGNC ENSG00000003393 tier1 29 0 0.00 15 3 16.67 ANGPT1 0 genome.wustl.edu 37 8 108297012 108297012 + Missense_Mutation SNP T T C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 8 108297012 108297012 T C SNP ANGPT1 ENST00000517746 human ensembl 74_37 -1 known missense c.1103 p.Q368R 1.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT1 HGNC ENSG00000154188 tier1 - - 52 0 0.00 56 29 34.12 ANK2 0 genome.wustl.edu 37 4 114274919 114274919 + Silent SNP A A G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 4 114274919 114274919 A G SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known silent c.5145 p.K1715 0.762 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 tier1 - - 20 0 0.00 4 9 69.23 ANKLE2 0 genome.wustl.edu 37 12 133306451 133306451 + Missense_Mutation SNP C C G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 12 133306451 133306451 C G SNP ANKLE2 ENST00000357997 human ensembl 74_37 -1 known missense c.2297 p.R766T 0.001 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 - - 63 0 0.00 65 10 13.33 ANKRD13A 0 genome.wustl.edu 37 12 110463586 110463586 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 12 110463586 110463586 C T SNP ANKRD13A ENST00000261739 human ensembl 74_37 +1 known missense c.841 p.R281C 1.000 pfam_ANKRD13 pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif - no_errors ANKRD13A HGNC ENSG00000076513 tier1 - - 62 0 0.00 58 9 13.43 ANTXRL 0 genome.wustl.edu 37 10 47701173 47701173 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 10 47701173 47701173 C T SNP ANTXRL ENST00000537271 human ensembl 74_37 +1 known missense c.1591 p.P531S 0.000 NULL pfam_Anthrax_toxin_rcpt_extracel,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors ANTXRL HGNC ENSG00000198250 tier1 - - 42 0 0.00 30 4 11.76 AOX1 0 genome.wustl.edu 37 2 201473732 201473732 + Silent SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 2 201473732 201473732 C T SNP AOX1 ENST00000374700 human ensembl 74_37 +1 known silent c.933 p.S311 1.000 pfam_Mopterin_DH_FAD-bd,superfamily_FAD-bd_2,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase - no_errors AOX1 HGNC ENSG00000138356 tier1 - - 21 0 0.00 24 4 14.29 AP2A2 0 genome.wustl.edu 37 11 1009801 1009801 + Missense_Mutation SNP C C A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 11 1009801 1009801 C A SNP AP2A2 ENST00000332231 human ensembl 74_37 +1 known missense c.2729 p.P910Q 1.000 pfam_Clathrin_a-adaptin_app_sub_C,superfamily_Coatomer/calthrin_app_sub_C,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A2 HGNC ENSG00000183020 tier1 - - 34 0 0.00 40 4 8.89 APH1B 0 genome.wustl.edu 37 15 63594591 63594591 + Missense_Mutation SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 15 63594591 63594591 G A SNP APH1B ENST00000261879 human ensembl 74_37 +1 known missense c.526 p.V176I 0.468 pfam_Aph-1 pfam_Aph-1 - no_errors APH1B HGNC ENSG00000138613 29 0 0.00 73 4 5.19 AR 0 genome.wustl.edu 37 X 66863160 66863160 + Missense_Mutation SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c X 66863160 66863160 G A SNP AR ENST00000374690 human ensembl 74_37 +1 known missense c.1679 p.C560Y 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 tier1 - - 47 0 0.00 57 4 6.56 ARFGEF2 0 genome.wustl.edu 37 20 47570297 47570297 + Missense_Mutation SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 20 47570297 47570297 G A SNP ARFGEF2 ENST00000371917 human ensembl 74_37 +1 known missense c.808 p.A270T 0.000 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF2 HGNC ENSG00000124198 tier1 - - 37 0 0.00 53 17 24.29 ARHGAP19-SLIT1 0 genome.wustl.edu 37 10 99006069 99006069 + Missense_Mutation SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 10 99006069 99006069 G A SNP ARHGAP19-SLIT1 ENST00000453547 human ensembl 74_37 -1 known missense c.953 p.A318V 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP19-SLIT1 HGNC ENSG00000269891 tier1 - - 23 0 0.00 25 9 26.47 ARHGAP23 0 genome.wustl.edu 37 17 36666573 36666573 + Nonsense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 17 36666573 36666573 G T SNP ARHGAP23 ENST00000431231 human ensembl 74_37 +1 known nonsense c.3841 p.E1281* 1.000 NULL pfam_RhoGAP_dom,pfam_PDZ,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP23 HGNC ENSG00000225485 tier1 - - 9 0 0.00 6 6 50.00 ARHGAP28 0 genome.wustl.edu 37 18 6882152 6882152 + Missense_Mutation SNP T T C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 18 6882152 6882152 T C SNP ARHGAP28 ENST00000400091 human ensembl 74_37 +1 known missense c.1307 p.L436P 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP28 HGNC ENSG00000088756 tier1 - - 41 0 0.00 53 21 28.38 ASB6 0 genome.wustl.edu 37 9 132400502 132400502 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 9 132400502 132400502 C T SNP ASB6 ENST00000277458 human ensembl 74_37 -1 known missense c.833 p.R278H 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB6 HGNC ENSG00000148331 44 0 0.00 15 2 11.76 ASH1L 0 genome.wustl.edu 37 1 155450308 155450308 + Missense_Mutation SNP A A G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 155450308 155450308 A G SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known missense c.2353 p.S785P 0.995 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 tier1 - - 40 0 0.00 46 4 7.84 ASPM 0 genome.wustl.edu 37 1 197091057 197091057 + Silent SNP G G C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 197091057 197091057 G C SNP ASPM ENST00000367409 human ensembl 74_37 -1 known silent c.3858 p.L1286 0.004 superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 tier1 - - 47 0 0.00 41 17 29.31 ASXL3 0 genome.wustl.edu 37 18 31318535 31318535 + Silent SNP T T C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 18 31318535 31318535 T C SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known silent c.1167 p.T389 0.660 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 tier1 - - 61 0 0.00 27 12 30.77 ATG13 0 genome.wustl.edu 37 11 46681022 46681022 + Frame_Shift_Del DEL C C - TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 11 46681022 46681022 C - DEL ATG13 ENST00000312040 human ensembl 74_37 +1 known frame_shift_del c.776 p.P260fs 1.000 NULL pfam_Autophagy-rel_p13 - no_errors ATG13 HGNC ENSG00000175224 tier1 40 0 0.00 36 2 5.26 ATG4D 0 genome.wustl.edu 37 19 10662891 10662891 + Missense_Mutation SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 19 10662891 10662891 G A SNP ATG4D ENST00000309469 human ensembl 74_37 +1 known missense c.1133 p.C378Y 1.000 pfam_Peptidase_C54 pfam_Peptidase_C54 - no_errors ATG4D HGNC ENSG00000130734 68 0 0.00 67 4 5.63 ATG7 0 genome.wustl.edu 37 3 11399890 11399890 + Splice_Site SNP A A G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 3 11399890 11399890 A G SNP ATG7 ENST00000354449 human ensembl 74_37 +1 known splice_site c.1285-2 e12-2 0.999 - - - no_errors ATG7 HGNC ENSG00000197548 tier1 - - 45 0 0.00 43 4 8.33 ATP5C1 0 genome.wustl.edu 37 10 7841141 7841142 + Frame_Shift_Del DEL AG AG - TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 10 7841141 7841142 AG - DEL ATP5C1 ENST00000356708 human ensembl 74_37 +1 known frame_shift_del c.412_413 p.G139fs 1.000:1.000 pfam_ATPase_F1-cplx_gsu,superfamily_ATPase_F1_gsu_dom,tigrfam_ATPase_F1-cplx_gsu pfam_ATPase_F1-cplx_gsu,superfamily_ATPase_F1_gsu_dom,prints_ATPase_F1-cplx_gsu,tigrfam_ATPase_F1-cplx_gsu - no_errors ATP5C1 HGNC ENSG00000165629 tier1 71 0 0.00 63 13 17.11 ATRNL1 0 genome.wustl.edu 37 10 117059709 117059709 + Missense_Mutation SNP A A T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 10 117059709 117059709 A T SNP ATRNL1 ENST00000355044 human ensembl 74_37 +1 known missense c.2581 p.N861Y 1.000 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC ENSG00000107518 tier1 - - 54 0 0.00 38 10 20.83 ATRNL1 0 genome.wustl.edu 37 10 117075097 117075097 + Missense_Mutation SNP A A C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 10 117075097 117075097 A C SNP ATRNL1 ENST00000355044 human ensembl 74_37 +1 known missense c.2888 p.D963A 1.000 pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC ENSG00000107518 tier1 - - 39 0 0.00 53 6 10.00 ATXN1L 0 genome.wustl.edu 37 16 71885137 71885137 + Missense_Mutation SNP A A T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 16 71885137 71885137 A T SNP ATXN1L ENST00000427980 human ensembl 74_37 +1 known missense c.1494 p.E498D 1.000 pfam_Ataxin-1_HBP1,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 pfam_Ataxin-1_HBP1,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1L HGNC ENSG00000224470 tier1 - - 38 0 0.00 22 8 26.67 AXL 0 genome.wustl.edu 37 19 41765522 41765522 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 19 41765522 41765522 C T SNP AXL ENST00000301178 human ensembl 74_37 +1 known missense c.2398 p.R800W 0.999 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AXL HGNC ENSG00000167601 tier1 - - 43 0 0.00 55 6 9.84 BAMBI 0 genome.wustl.edu 37 10 28971215 28971215 + Missense_Mutation SNP A A G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 10 28971215 28971215 A G SNP BAMBI ENST00000375533 human ensembl 74_37 +1 known missense c.668 p.E223G 1.000 pirsf_BMP/activin_membr-bound_inhib pfam_BMP/activin_membr-bound_inhib,pfam_Activin_rcpt,pirsf_BMP/activin_membr-bound_inhib - no_errors BAMBI HGNC ENSG00000095739 tier1 - - 52 0 0.00 37 15 28.85 BDP1 0 genome.wustl.edu 37 5 70805440 70805440 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 5 70805440 70805440 G T SNP BDP1 ENST00000358731 human ensembl 74_37 +1 known missense c.2521 p.G841W 0.074 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 35 0 0.00 24 2 7.69 BICC1 0 genome.wustl.edu 37 10 60573843 60573843 + Missense_Mutation SNP A A C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 10 60573843 60573843 A C SNP BICC1 ENST00000263103 human ensembl 74_37 +1 known missense c.1508 p.K503T 0.004 NULL NULL - no_errors BICC1 HGNC ENSG00000122870 tier1 - - 23 0 0.00 41 11 21.15 BMS1P8 0 genome.wustl.edu 37 16 33499001 33499001 + RNA SNP A A C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 16 33499001 33499001 A C SNP BMS1P8 ENST00000565156 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors BMS1P8 HGNC ENSG00000260518 tier1 - - 319 0 0.00 152 53 25.85 BOC 0 genome.wustl.edu 37 3 112969758 112969758 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 3 112969758 112969758 G T SNP BOC ENST00000484034 human ensembl 74_37 +1 putative missense c.454 p.A152S 0.000 NULL pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors BOC HGNC ENSG00000144857 22 0 0.00 33 4 10.81 BRD9 0 genome.wustl.edu 37 5 889728 889728 + Nonsense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 5 889728 889728 C T SNP BRD9 ENST00000483173 human ensembl 74_37 -1 novel nonsense c.281 p.W94* 0.691 superfamily_Bromodomain,smart_Bromodomain pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD9 HGNC ENSG00000028310 tier1 - - 25 0 0.00 36 4 10.00 BRINP1 0 genome.wustl.edu 37 9 122004356 122004356 + Missense_Mutation SNP T T A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 9 122004356 122004356 T A SNP BRINP1 ENST00000265922 human ensembl 74_37 -1 known missense c.548 p.H183L 1.000 smart_MACPF pfam_MACPF,smart_MACPF - no_errors BRINP1 HGNC ENSG00000078725 tier1 - - 61 0 0.00 50 9 15.25 C10orf112 0 genome.wustl.edu 37 10 19616518 19616518 + Silent SNP T T G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 10 19616518 19616518 T G SNP C10orf112 ENST00000454679 human ensembl 74_37 +1 known silent c.1491 p.T497 0.330 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt,prints_MAM_dom - no_errors C10orf112 HGNC ENSG00000204740 tier1 - - 50 0 0.00 47 10 17.54 C11orf21 0 genome.wustl.edu 37 11 2322980 2322980 + RNA SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 11 2322980 2322980 G T SNP C11orf21 ENST00000470369 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors C11orf21 HGNC ENSG00000110665 tier1 - - 47 0 0.00 44 20 31.25 C12orf40 0 genome.wustl.edu 37 12 40114981 40114981 + Silent SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 12 40114981 40114981 C T SNP C12orf40 ENST00000324616 human ensembl 74_37 +1 known silent c.1887 p.C629 0.000 NULL NULL - no_errors C12orf40 HGNC ENSG00000180116 tier1 - - 26 0 0.00 49 5 9.26 C14orf23 0 genome.wustl.edu 37 14 29261305 29261305 + Silent SNP A A C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 14 29261305 29261305 A C SNP C14orf23 ENST00000399387 human ensembl 74_37 +1 known silent c.342 p.L114 0.707 NULL NULL - no_errors C14orf23 HGNC ENSG00000186960 45 0 0.00 29 2 6.45 C1orf101 0 genome.wustl.edu 37 1 244640841 244640841 + Splice_Site SNP A A G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 244640841 244640841 A G SNP C1orf101 ENST00000366531 human ensembl 74_37 +1 known splice_site c.1-2 e1-2 0.988 - - - no_errors C1orf101 HGNC ENSG00000179397 tier1 - - 50 0 0.00 52 5 8.77 C1orf162 0 genome.wustl.edu 37 1 112020392 112020392 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 112020392 112020392 G T SNP C1orf162 ENST00000343534 human ensembl 74_37 +1 known missense c.322 p.A108S 0.021 NULL NULL - no_errors C1orf162 HGNC ENSG00000143110 48 0 0.00 47 4 7.84 C1orf56 0 genome.wustl.edu 37 1 151021185 151021185 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 151021185 151021185 C T SNP C1orf56 ENST00000368926 human ensembl 74_37 +1 known missense c.862 p.P288S 0.000 NULL superfamily_Thrombospondin_1_rpt - no_errors C1orf56 HGNC ENSG00000143443 36 0 0.00 68 5 6.85 C21orf58 0 genome.wustl.edu 37 21 47734720 47734720 + Silent SNP G G C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 21 47734720 47734720 G C SNP C21orf58 ENST00000291691 human ensembl 74_37 -1 known silent c.519 p.A173 0.000 NULL NULL - no_errors C21orf58 HGNC ENSG00000160298 tier1 - - 78 0 0.00 40 21 34.43 C7orf66 0 genome.wustl.edu 37 7 108524266 108524266 + Missense_Mutation SNP A A G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 7 108524266 108524266 A G SNP C7orf66 ENST00000379007 human ensembl 74_37 -1 putative missense c.146 p.L49P 0.001 NULL NULL - no_errors C7orf66 HGNC ENSG00000205174 tier1 - - 29 0 0.00 26 8 22.86 C8orf12 0 genome.wustl.edu 37 8 11295948 11295948 + Missense_Mutation SNP A A T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 8 11295948 11295948 A T SNP C8orf12 ENST00000284481 human ensembl 74_37 +1 known missense c.212 p.D71V 0.067 NULL NULL - no_errors C8orf12 HGNC ENSG00000184608 tier1 - - 82 0 0.00 57 13 18.57 CABIN1 0 genome.wustl.edu 37 22 24483514 24483514 + Missense_Mutation SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 22 24483514 24483514 G A SNP CABIN1 ENST00000263119 human ensembl 74_37 +1 known missense c.3373 p.V1125I 0.996 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 tier1 rs148592192 - 17 0 0.00 24 6 20.00 CABYR 0 genome.wustl.edu 37 18 21736850 21736850 + Missense_Mutation SNP G G C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 18 21736850 21736850 G C SNP CABYR ENST00000463087 human ensembl 74_37 +1 known missense c.1385 p.G462A 0.000 NULL pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b - no_errors CABYR HGNC ENSG00000154040 tier1 - - 42 0 0.00 50 4 7.41 CACNA1G 0 genome.wustl.edu 37 17 48649272 48649272 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 17 48649272 48649272 C T SNP CACNA1G ENST00000359106 human ensembl 74_37 +1 known missense c.620 p.T207M 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 34 0 0.00 41 3 6.82 CACNG4 0 genome.wustl.edu 37 17 65026680 65026680 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 17 65026680 65026680 G T SNP CACNG4 ENST00000262138 human ensembl 74_37 +1 known missense c.544 p.G182C 1.000 pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_Claudin pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g4su,prints_VDCC_gsu,prints_Claudin - no_errors CACNG4 HGNC ENSG00000075461 tier1 - - 50 0 0.00 59 4 6.35 CACNG4 0 genome.wustl.edu 37 17 65026647 65026647 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 17 65026647 65026647 C T SNP CACNG4 ENST00000262138 human ensembl 74_37 +1 known missense c.511 p.R171W 0.951 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g4su,prints_VDCC_gsu,prints_Claudin - no_errors CACNG4 HGNC ENSG00000075461 53 0 0.00 59 4 6.35 CACTIN 0 genome.wustl.edu 37 19 3624103 3624103 + Silent SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 19 3624103 3624103 C T SNP CACTIN ENST00000221899 human ensembl 74_37 -1 known silent c.21 p.P7 0.000 NULL pfam_Cactin_dom,pfam_Cactin_C - no_errors CACTIN HGNC ENSG00000105298 tier1 - - 45 0 0.00 24 10 29.41 CAPN14 0 genome.wustl.edu 37 2 31428227 31428227 + Silent SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 2 31428227 31428227 G A SNP CAPN14 ENST00000444918 human ensembl 74_37 -1 known silent c.87 p.D29 1.000 smart_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,prints_Calpain_cysteine_protease,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat - no_errors CAPN14 HGNC ENSG00000214711 48 0 0.00 69 4 5.48 CARM1 0 genome.wustl.edu 37 19 11018787 11018787 + Missense_Mutation SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 19 11018787 11018787 G A SNP CARM1 ENST00000327064 human ensembl 74_37 +1 known missense c.419 p.R140Q 1.000 NULL pfam_Histone-Arg_MeTrfase_N,pfam_Arg_MeTrfase,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_mo5U34_MeTrfas-like,pfam_Methyltransf_11 - no_errors CARM1 HGNC ENSG00000142453 tier1 - - 29 0 0.00 30 6 16.67 CASS4 0 genome.wustl.edu 37 20 55027698 55027698 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 20 55027698 55027698 C T SNP CASS4 ENST00000360314 human ensembl 74_37 +1 known missense c.1466 p.S489F 0.863 pfam_Serine_rich pfam_Serine_rich,pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors CASS4 HGNC ENSG00000087589 tier1 - - 31 0 0.00 33 4 10.81 CAV1 0 genome.wustl.edu 37 7 116199131 116199131 + Silent SNP C C A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 7 116199131 116199131 C A SNP CAV1 ENST00000341049 human ensembl 74_37 +1 known silent c.327 p.I109 0.954 pfam_Caveolin pfam_Caveolin - no_errors CAV1 HGNC ENSG00000105974 tier1 - - 42 0 0.00 46 4 8.00 CCDC149 0 genome.wustl.edu 37 4 24833262 24833262 + Silent SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 4 24833262 24833262 C T SNP CCDC149 ENST00000504487 human ensembl 74_37 -1 known silent c.831 p.L277 1.000 pfam_Coiled-coil_dom-contain_pr_149 pfam_Coiled-coil_dom-contain_pr_149 - no_errors CCDC149 HGNC ENSG00000181982 tier1 - - 47 0 0.00 25 4 13.79 CCDC33 0 genome.wustl.edu 37 15 74623044 74623044 + Missense_Mutation SNP G G C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 15 74623044 74623044 G C SNP CCDC33 ENST00000321288 human ensembl 74_37 +1 known missense c.2106 p.M702I 0.117 NULL pfam_C2_dom,superfamily_C2_dom - no_errors CCDC33 HGNC ENSG00000140481 tier1 - - 36 0 0.00 42 10 19.23 CCL8 0 genome.wustl.edu 37 17 32646540 32646540 + Missense_Mutation SNP T T G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 17 32646540 32646540 T G SNP CCL8 ENST00000394620 human ensembl 74_37 +1 known missense c.20 p.L7R 0.000 NULL pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL8 HGNC ENSG00000108700 tier1 - - 27 0 0.00 29 9 23.68 CCRN4L 0 genome.wustl.edu 37 4 139964386 139964386 + Missense_Mutation SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 4 139964386 139964386 G A SNP CCRN4L ENST00000280614 human ensembl 74_37 +1 known missense c.349 p.V117I 0.996 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors CCRN4L HGNC ENSG00000151014 27 0 0.00 39 4 9.30 CD109 0 genome.wustl.edu 37 6 74475784 74475784 + Missense_Mutation SNP A A T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 6 74475784 74475784 A T SNP CD109 ENST00000287097 human ensembl 74_37 +1 known missense c.1239 p.E413D 0.000 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors CD109 HGNC ENSG00000156535 tier1 - - 30 0 0.00 66 4 5.71 CDH12 0 genome.wustl.edu 37 5 21783471 21783471 + Missense_Mutation SNP T T G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 5 21783471 21783471 T G SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known missense c.1389 p.K463N 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 CDH12 HGNC ENSG00000154162 tier1 - - 34 0 0.00 31 6 16.22 CELSR2 0 genome.wustl.edu 37 1 109792735 109792736 + In_Frame_Ins INS - - CGC TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 109792735 109792736 - CGC INS CELSR2 ENST00000271332 human ensembl 74_37 +1 known in_frame_ins c.34_35 p.16in_frame_insP 0.060:0.468 NULL 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 9 0 0.00 2 7 77.78 CHRM2 0 genome.wustl.edu 37 7 136700570 136700570 + Missense_Mutation SNP T T C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 7 136700570 136700570 T C SNP CHRM2 ENST00000320658 human ensembl 74_37 +1 known missense c.958 p.S320P 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM2 HGNC ENSG00000181072 tier1 - - 30 0 0.00 28 5 15.15 CLCN7 0 genome.wustl.edu 37 16 1515268 1515268 + Silent SNP C C A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 16 1515268 1515268 C A SNP CLCN7 ENST00000382745 human ensembl 74_37 -1 known silent c.213 p.P71 1.000 NULL pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-7 - no_errors CLCN7 HGNC ENSG00000103249 tier1 - - 20 0 0.00 12 3 20.00 CLDN17 0 genome.wustl.edu 37 21 31538834 31538834 + Silent SNP A A G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 21 31538834 31538834 A G SNP CLDN17 ENST00000286808 human ensembl 74_37 -1 known silent c.102 p.A34 0.966 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin14 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin14,prints_Claudin8 - no_errors CLDN17 HGNC ENSG00000156282 tier1 - - 21 0 0.00 36 14 28.00 CLEC6A 0 genome.wustl.edu 37 12 8628756 8628756 + Silent SNP T T C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 12 8628756 8628756 T C SNP CLEC6A ENST00000382073 human ensembl 74_37 +1 known silent c.405 p.S135 0.946 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC6A HGNC ENSG00000205846 tier1 - - 45 0 0.00 34 12 26.09 CLSTN2 0 genome.wustl.edu 37 3 140282817 140282817 + Missense_Mutation SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 3 140282817 140282817 G A SNP CLSTN2 ENST00000458420 human ensembl 74_37 +1 known missense c.2497 p.A833T 1.000 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC ENSG00000158258 tier1 - - 51 0 0.00 70 4 5.33 CNBD2 0 genome.wustl.edu 37 20 34571994 34571994 + Silent SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 20 34571994 34571994 C T SNP CNBD2 ENST00000373973 human ensembl 74_37 +1 known silent c.498 p.D166 0.050 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNBD2 HGNC ENSG00000149646 tier1 - - 55 0 0.00 43 16 27.12 CNTN4 0 genome.wustl.edu 37 3 3030058 3030058 + Missense_Mutation SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 3 3030058 3030058 G A SNP CNTN4 ENST00000397461 human ensembl 74_37 +1 known missense c.1388 p.R463K 0.997 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN4 HGNC ENSG00000144619 tier1 - - 52 0 0.00 64 10 13.51 COL22A1 0 genome.wustl.edu 37 8 139668162 139668162 + Missense_Mutation SNP C C A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 8 139668162 139668162 C A SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known missense c.3311 p.G1104V 0.991 NULL pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 tier1 - - 39 0 0.00 47 5 9.62 COL22A1 0 genome.wustl.edu 37 8 139833602 139833602 + Missense_Mutation SNP C C A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 8 139833602 139833602 C A SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known missense c.1022 p.G341V 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 tier1 - - 49 0 0.00 48 13 21.31 COL4A3 0 genome.wustl.edu 37 2 228162548 228162548 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 2 228162548 228162548 G T SNP COL4A3 ENST00000396578 human ensembl 74_37 +1 known missense c.3724 p.G1242C 0.961 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A3 HGNC ENSG00000169031 tier1 - - 45 0 0.00 50 4 7.41 COL5A1 0 genome.wustl.edu 37 9 137715273 137715273 + Silent SNP C C A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 9 137715273 137715273 C A SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known silent c.4656 p.G1552 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 tier1 - - 49 0 0.00 46 7 13.21 COL6A6 0 genome.wustl.edu 37 3 130367915 130367915 + Missense_Mutation SNP A A G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 3 130367915 130367915 A G SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known missense c.5242 p.K1748E 0.255 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 tier1 - - 21 0 0.00 24 7 22.58 COL7A1 0 genome.wustl.edu 37 3 48619360 48619360 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 3 48619360 48619360 C T SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known missense c.4652 p.G1551E 0.829 NULL pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 tier1 - - 27 0 0.00 42 6 12.50 COPA 0 genome.wustl.edu 37 1 160262334 160262334 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 160262334 160262334 C T SNP COPA ENST00000368069 human ensembl 74_37 -1 known missense c.2927 p.R976H 1.000 pfam_Coatomer_asu_C,pirsf_Coatomer_asu pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors COPA HGNC ENSG00000122218 35 0 0.00 47 3 6.00 CR1 0 genome.wustl.edu 37 1 207737337 207737337 + Missense_Mutation SNP C C G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 207737337 207737337 C G SNP CR1 ENST00000367049 human ensembl 74_37 +1 known missense c.3715 p.R1239G 0.003 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1 HGNC ENSG00000203710 tier1 - - 163 0 0.00 101 84 45.41 CRB1 0 genome.wustl.edu 37 1 197313525 197313525 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 197313525 197313525 G T SNP CRB1 ENST00000367400 human ensembl 74_37 +1 known missense c.767 p.G256V 0.976 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC ENSG00000134376 tier1 - - 63 0 0.00 53 33 38.37 CRTAC1 0 genome.wustl.edu 37 10 99677288 99677288 + Silent SNP C C A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 10 99677288 99677288 C A SNP CRTAC1 ENST00000370597 human ensembl 74_37 -1 known silent c.684 p.V228 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 - - 45 0 0.00 44 8 15.38 CRYZ 0 genome.wustl.edu 37 1 75185054 75185054 + Missense_Mutation SNP T T A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 75185054 75185054 T A SNP CRYZ ENST00000340866 human ensembl 74_37 -1 known missense c.267 p.K89N 1.000 pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors CRYZ HGNC ENSG00000116791 27 0 0.00 38 2 5.00 CSMD2 0 genome.wustl.edu 37 1 34164354 34164354 + Silent SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 34164354 34164354 G A SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known silent c.3924 p.V1308 0.345 superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 30 0 0.00 19 2 9.52 CSMD3 0 genome.wustl.edu 37 8 113662429 113662429 + Missense_Mutation SNP T T C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 8 113662429 113662429 T C SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.3154 p.K1052E 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 - - 52 0 0.00 34 16 32.00 CSMD3 0 genome.wustl.edu 37 8 114111188 114111188 + Missense_Mutation SNP T T A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 8 114111188 114111188 T A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.714 p.E238D 1.000 NULL 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 - - 38 0 0.00 36 4 10.00 CUBN 0 genome.wustl.edu 37 10 16960677 16960677 + Missense_Mutation SNP C C G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 10 16960677 16960677 C G SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.6944 p.R2315T 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 tier1 - - 43 0 0.00 58 10 14.71 CUL9 0 genome.wustl.edu 37 6 43168191 43168191 + Silent SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 6 43168191 43168191 C T SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known silent c.3402 p.I1134 0.266 superfamily_Galactose-bd-like pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 tier1 - - 49 0 0.00 145 19 11.59 CUX1 0 genome.wustl.edu 37 7 101923380 101923380 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 7 101923380 101923380 C T SNP CUX1 ENST00000292538 human ensembl 74_37 +1 known missense c.1732 p.R578C 1.000 pfam_CASP_C pfam_CASP_C,superfamily_LemA-like_dom - no_errors CUX1 HGNC ENSG00000257923 59 0 0.00 76 4 5.00 CXorf30 0 genome.wustl.edu 37 X 36337395 36337395 + Missense_Mutation SNP A A G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c X 36337395 36337395 A G SNP CXorf30 ENST00000378657 human ensembl 74_37 +1 known missense c.754 p.R252G 0.000 NULL NULL - no_errors CXorf30 HGNC ENSG00000205081 tier1 - - 38 0 0.00 19 12 38.71 CYLC1 0 genome.wustl.edu 37 X 83129284 83129284 + Missense_Mutation SNP A A C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c X 83129284 83129284 A C SNP CYLC1 ENST00000329312 human ensembl 74_37 +1 known missense c.1568 p.E523A 0.006 NULL NULL - no_errors CYLC1 HGNC ENSG00000183035 tier1 - - 32 0 0.00 10 6 37.50 DAXX 0 genome.wustl.edu 37 6 33289323 33289323 + Nonsense_Mutation SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 6 33289323 33289323 G A SNP DAXX ENST00000266000 human ensembl 74_37 -1 known nonsense c.229 p.Q77* 0.925 pfam_Daxx pfam_Daxx - no_errors DAXX HGNC ENSG00000204209 tier1 - - 29 0 0.00 19 3 13.04 DCDC2 0 genome.wustl.edu 37 6 24301967 24301967 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 6 24301967 24301967 G T SNP DCDC2 ENST00000378454 human ensembl 74_37 -1 known missense c.533 p.T178N 0.866 pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors DCDC2 HGNC ENSG00000146038 55 0 0.00 56 4 6.67 DCHS1 0 genome.wustl.edu 37 11 6647158 6647158 + Nonsense_Mutation SNP C C A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 11 6647158 6647158 C A SNP DCHS1 ENST00000299441 human ensembl 74_37 -1 known nonsense c.6724 p.E2242* 0.985 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 tier1 - - 42 0 0.00 41 8 16.33 DCHS1 0 genome.wustl.edu 37 11 6662746 6662748 + In_Frame_Del DEL CAG CAG - TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 11 6662746 6662748 CAG - DEL DCHS1 ENST00000299441 human ensembl 74_37 -1 known in_frame_del c.99_97 p.L33in_frame_del 1.000:1.000:1.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 tier1 51 0 0.00 55 6 9.84 DDX42 0 genome.wustl.edu 37 17 61883937 61883937 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 17 61883937 61883937 C T SNP DDX42 ENST00000389924 human ensembl 74_37 +1 known missense c.769 p.H257Y 1.000 pfscan_RNA_helicase_DEAD_Q_motif pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX42 HGNC ENSG00000198231 tier1 - - 59 0 0.00 53 12 18.46 DHRS9 0 genome.wustl.edu 37 2 169938085 169938085 + Silent SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 2 169938085 169938085 G A SNP DHRS9 ENST00000432060 human ensembl 74_37 +1 known silent c.174 p.G58 0.000 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS9 HGNC ENSG00000073737 tier1 - - 56 0 0.00 58 4 6.45 DHX35 0 genome.wustl.edu 37 20 37634964 37634964 + Missense_Mutation SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 20 37634964 37634964 G A SNP DHX35 ENST00000252011 human ensembl 74_37 +1 known missense c.1187 p.R396H 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX35 HGNC ENSG00000101452 43 0 0.00 76 4 5.00 DNAH3 0 genome.wustl.edu 37 16 21073867 21073867 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 16 21073867 21073867 C T SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.3656 p.G1219D 1.000 pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 tier1 - - 38 0 0.00 44 4 8.33 DNAJC16 0 genome.wustl.edu 37 1 15870907 15870907 + Silent SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 15870907 15870907 C T SNP DNAJC16 ENST00000375847 human ensembl 74_37 +1 known silent c.588 p.G196 0.048 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_DnaJ_domain,pfam_Thioredoxin_domain,superfamily_DnaJ_domain,superfamily_Thioredoxin-like_fold,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC16 HGNC ENSG00000116138 tier1 - - 43 0 0.00 45 4 8.16 DRD5 0 genome.wustl.edu 37 4 9783698 9783698 + Missense_Mutation SNP C C A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 4 9783698 9783698 C A SNP DRD5 ENST00000304374 human ensembl 74_37 +1 known missense c.45 p.F15L 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Dopamine_D5_rcpt,prints_Dopamine_rcpt - no_errors DRD5 HGNC ENSG00000169676 18 0 0.00 40 3 6.98 DRD5 0 genome.wustl.edu 37 4 9783701 9783701 + Silent SNP T T G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 4 9783701 9783701 T G SNP DRD5 ENST00000304374 human ensembl 74_37 +1 known silent c.48 p.A16 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Dopamine_D5_rcpt,prints_Dopamine_rcpt - no_errors DRD5 HGNC ENSG00000169676 18 0 0.00 40 3 6.98 DSE 0 genome.wustl.edu 37 6 116758015 116758015 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 6 116758015 116758015 C T SNP DSE ENST00000537543 human ensembl 74_37 +1 known missense c.2441 p.A814V 1.000 NULL superfamily_Chondroitin_lyas - no_errors DSE HGNC ENSG00000111817 tier1 - - 24 0 0.00 18 5 21.74 DSG1 0 genome.wustl.edu 37 18 28934607 28934607 + Silent SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 18 28934607 28934607 G A SNP DSG1 ENST00000257192 human ensembl 74_37 +1 known silent c.2448 p.S816 0.003 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmoglein,prints_Cadherin,prints_Desmosomal_cadherin - no_errors DSG1 HGNC ENSG00000134760 tier1 - - 24 0 0.00 38 24 38.71 DST 0 genome.wustl.edu 37 6 56483314 56483314 + Missense_Mutation SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 6 56483314 56483314 G A SNP DST ENST00000370765 human ensembl 74_37 -1 known missense c.5518 p.R1840C 0.013 NULL pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DST HGNC ENSG00000151914 tier1 - - 36 0 0.00 47 4 7.84 DST 0 genome.wustl.edu 37 6 56471114 56471114 + Missense_Mutation SNP T T A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 6 56471114 56471114 T A SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.8213 p.E2738V 0.004 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 23 0 0.00 16 3 15.79 DYX1C1-CCPG1 0 genome.wustl.edu 37 15 55647932 55647932 + RNA SNP A A G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 15 55647932 55647932 A G SNP DYX1C1-CCPG1 ENST00000565113 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors DYX1C1-CCPG1 HGNC ENSG00000261771 tier1 - - 24 0 0.00 23 4 14.81 ECT2L 0 genome.wustl.edu 37 6 139134440 139134440 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 6 139134440 139134440 C T SNP ECT2L ENST00000367682 human ensembl 74_37 +1 known missense c.29 p.A10V 1.000 NULL pfam_DH-domain,pfam_F-box_dom,superfamily_DH-domain,superfamily_F-box_dom,smart_DH-domain,pfscan_DH-domain - no_errors ECT2L HGNC ENSG00000203734 tier1 - - 45 0 0.00 48 4 7.69 EFTUD2 0 genome.wustl.edu 37 17 42964094 42964094 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 17 42964094 42964094 C T SNP EFTUD2 ENST00000426333 human ensembl 74_37 -1 known missense c.130 p.D44N 1.000 NULL pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EFTUD2 HGNC ENSG00000108883 tier1 - - 31 0 0.00 35 9 20.45 ELMO2 0 genome.wustl.edu 37 20 45003885 45003885 + Missense_Mutation SNP A A T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 20 45003885 45003885 A T SNP ELMO2 ENST00000439931 human ensembl 74_37 -1 known missense c.1091 p.L364Q 1.000 pfam_Engulfment_cell_motility_ELMO pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO2 HGNC ENSG00000062598 43 0 0.00 45 3 6.25 EML2 0 genome.wustl.edu 37 19 46128025 46128025 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 19 46128025 46128025 C T SNP EML2 ENST00000587152 human ensembl 74_37 -1 known missense c.1396 p.D466N 1.000 superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Quinoprot_gluc/sorb_DH,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML2 HGNC ENSG00000125746 tier1 - - 38 0 0.00 55 16 22.54 ENAM 0 genome.wustl.edu 37 4 71503463 71503463 + RNA SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 4 71503463 71503463 G T SNP ENAM ENST00000472903 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors ENAM HGNC ENSG00000132464 tier1 - - 68 0 0.00 80 5 5.88 ENOX1 0 genome.wustl.edu 37 13 43900627 43900627 + Silent SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 13 43900627 43900627 G T SNP ENOX1 ENST00000261488 human ensembl 74_37 -1 known silent c.1071 p.T357 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ENOX1 HGNC ENSG00000120658 tier1 - - 43 0 0.00 43 4 8.51 ENSG00000184774 0 genome.wustl.edu 37 1 202795198 202795198 + Silent SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 202795198 202795198 G T SNP ENSG00000184774 ENST00000330493 human ensembl 74_37 +1 known silent c.564 p.V188 0.282 NULL pfam_Glyco_transf_54 - no_errors RP11-480I12.4 Clone_based_vega_gene ENSG00000184774 tier1 - - 43 0 0.00 64 4 5.88 ENSG00000203849 0 genome.wustl.edu 37 1 142620697 142620697 + RNA SNP T T G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 142620697 142620697 T G SNP ENSG00000203849 ENST00000369381 human ensembl 74_37 -1 known rna NULL NULL 0.109 - - - no_errors RP11-417J8.6 Clone_based_vega_gene ENSG00000203849 tier1 - - 20 0 0.00 10 3 23.08 ENSG00000224595 0 genome.wustl.edu 37 7 114054522 114054522 + RNA SNP T T G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 7 114054522 114054522 T G SNP ENSG00000224595 ENST00000415146 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors AC073626.2 Clone_based_vega_gene ENSG00000224595 tier1 - - 24 0 0.00 13 10 43.48 ENSG00000229334 0 genome.wustl.edu 37 3 194353786 194353786 + RNA SNP C C G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 3 194353786 194353786 C G SNP ENSG00000229334 ENST00000447139 human ensembl 74_37 +1 known rna NULL NULL 0.030 - - - no_errors AC046143.3 Clone_based_vega_gene ENSG00000229334 tier1 rs1675956 - 10 0 0.00 28 11 28.21 ENSG00000233836 0 genome.wustl.edu 37 19 24014430 24014430 + RNA SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 19 24014430 24014430 G T SNP ENSG00000233836 ENST00000471224 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors RP11-255H23.2 Clone_based_vega_gene ENSG00000233836 tier1 - - 18 0 0.00 10 4 28.57 ENSG00000243655 0 genome.wustl.edu 37 17 22024357 22024357 + RNA SNP A A C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 17 22024357 22024357 A C SNP ENSG00000243655 ENST00000483901 human ensembl 74_37 -1 known rna NULL NULL 0.961 - - - no_errors RP11-846F4.12 Clone_based_vega_gene ENSG00000243655 tier1 - - 31 0 0.00 23 7 23.33 ENSG00000244327 0 genome.wustl.edu 37 3 142184163 142184164 + RNA INS - - A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 3 142184163 142184164 - A INS ENSG00000244327 ENST00000460977 human ensembl 74_37 -1 known rna NULL NULL 0.002:0.001 - - - no_errors RP11-383G6.3 Clone_based_vega_gene ENSG00000244327 tier1 45 0 0.00 71 9 11.25 ENSG00000250686 0 genome.wustl.edu 37 6 62390861 62390861 + RNA SNP A A C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 6 62390861 62390861 A C SNP ENSG00000250686 ENST00000511849 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP1-240B8.3 Clone_based_vega_gene ENSG00000250686 tier1 - - 44 0 0.00 53 11 17.19 ENSG00000253172 0 genome.wustl.edu 37 5 172571581 172571581 + Splice_Site SNP C C G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 5 172571581 172571581 C G SNP ENSG00000253172 ENST00000521251 human ensembl 74_37 -1 known splice_site c.NULL NULL 0.996 - - - no_errors CTC-209H22.3 Clone_based_vega_gene ENSG00000253172 tier1 - - 58 0 0.00 48 5 9.43 ESR1 0 genome.wustl.edu 37 6 152265466 152265466 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 6 152265466 152265466 G T SNP ESR1 ENST00000206249 human ensembl 74_37 +1 known missense c.919 p.A307S 0.971 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Oestr_rcpt,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,pfscan_Znf_hrmn_rcpt,prints_Oestr_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors ESR1 HGNC ENSG00000091831 43 0 0.00 27 2 6.90 ETAA1 0 genome.wustl.edu 37 2 67631390 67631390 + Missense_Mutation SNP A A T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 2 67631390 67631390 A T SNP ETAA1 ENST00000272342 human ensembl 74_37 +1 known missense c.1576 p.T526S 0.000 NULL NULL - no_errors ETAA1 HGNC ENSG00000143971 tier1 - - 34 0 0.00 30 4 11.76 EVX2 0 genome.wustl.edu 37 2 176948500 176948500 + Missense_Mutation SNP A A G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 2 176948500 176948500 A G SNP EVX2 ENST00000308618 human ensembl 74_37 -1 known missense c.5 p.M2T 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Antifreeze_1,prints_Homeobox_metazoa - no_errors EVX2 HGNC ENSG00000174279 tier1 - - 49 0 0.00 37 27 42.19 EXOC3L2 0 genome.wustl.edu 37 19 45716562 45716562 + Missense_Mutation SNP G G C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 19 45716562 45716562 G C SNP EXOC3L2 ENST00000252482 human ensembl 74_37 -1 known missense c.995 p.A332G 0.972 pfam_Sec6 pfam_Sec6,superfamily_Tet_transcr_reg_TetR-rel_C - no_errors EXOC3L2 HGNC ENSG00000130201 tier1 - - 45 0 0.00 102 12 10.53 EYS 0 genome.wustl.edu 37 6 65300762 65300762 + Missense_Mutation SNP T T A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 6 65300762 65300762 T A SNP EYS ENST00000370616 human ensembl 74_37 -1 known missense c.4998 p.L1666F 0.000 NULL pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 tier1 - - 19 0 0.00 12 9 42.86 F11 0 genome.wustl.edu 37 4 187206815 187206815 + Missense_Mutation SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 4 187206815 187206815 G A SNP F11 ENST00000403665 human ensembl 74_37 +1 known missense c.1328 p.R443H 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,smart_Apple,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Peptidase_S1,prints_Apple,prints_Peptidase_S1A - no_errors F11 HGNC ENSG00000088926 tier1 - - 63 0 0.00 31 15 32.61 FAM160A2 0 genome.wustl.edu 37 11 6245219 6245219 + Missense_Mutation SNP A A T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 11 6245219 6245219 A T SNP FAM160A2 ENST00000265978 human ensembl 74_37 -1 known missense c.398 p.L133Q 1.000 pfam_RetinoicA-induced_16-like pfam_RetinoicA-induced_16-like - no_errors FAM160A2 HGNC ENSG00000051009 11 0 0.00 11 3 21.43 FAM169A 0 genome.wustl.edu 37 5 74135905 74135905 + Silent SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 5 74135905 74135905 G A SNP FAM169A ENST00000389156 human ensembl 74_37 -1 known silent c.226 p.L76 1.000 NULL NULL - no_errors FAM169A HGNC ENSG00000198780 106 0 0.00 92 5 5.15 FAM47A 0 genome.wustl.edu 37 X 34149661 34149661 + Silent SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c X 34149661 34149661 G A SNP FAM47A ENST00000346193 human ensembl 74_37 -1 known silent c.735 p.S245 0.001 NULL NULL - no_errors FAM47A HGNC ENSG00000185448 tier1 - - 101 0 0.00 110 6 5.17 FAM47A 0 genome.wustl.edu 37 X 34149662 34149662 + Missense_Mutation SNP G G C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c X 34149662 34149662 G C SNP FAM47A ENST00000346193 human ensembl 74_37 -1 known missense c.734 p.S245C 0.002 NULL NULL - no_errors FAM47A HGNC ENSG00000185448 tier1 - - 101 0 0.00 110 6 5.17 FAM53C 0 genome.wustl.edu 37 5 137680947 137680947 + Silent SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 5 137680947 137680947 C T SNP FAM53C ENST00000239906 human ensembl 74_37 +1 known silent c.570 p.S190 0.937 NULL NULL - no_errors FAM53C HGNC ENSG00000120709 tier1 - - 57 0 0.00 73 4 5.13 FAM86DP 0 genome.wustl.edu 37 3 75470995 75470995 + RNA SNP T T A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 3 75470995 75470995 T A SNP FAM86DP ENST00000459803 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM86DP HGNC ENSG00000244026 34 0 0.00 25 5 16.67 FAM86DP 0 genome.wustl.edu 37 3 75470996 75470996 + RNA SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 3 75470996 75470996 G T SNP FAM86DP ENST00000459803 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM86DP HGNC ENSG00000244026 34 0 0.00 25 5 16.67 FARP1 0 genome.wustl.edu 37 13 99091107 99091107 + Missense_Mutation SNP A A G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 13 99091107 99091107 A G SNP FARP1 ENST00000376586 human ensembl 74_37 +1 known missense c.2417 p.Q806R 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FARP1 HGNC ENSG00000152767 tier1 - - 58 0 0.00 35 4 10.26 FAT3 0 genome.wustl.edu 37 11 92600247 92600247 + Missense_Mutation SNP A A C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 11 92600247 92600247 A C SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.11999 p.N4000T 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 37 0 0.00 33 14 29.79 FBN2 0 genome.wustl.edu 37 5 127671703 127671703 + Missense_Mutation SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 5 127671703 127671703 G A SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known missense c.3701 p.T1234M 0.999 pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 tier1 - - 14 0 0.00 12 8 40.00 FBXO10 0 genome.wustl.edu 37 9 37515946 37515946 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 9 37515946 37515946 C T SNP FBXO10 ENST00000432825 human ensembl 74_37 -1 known missense c.2651 p.R884Q 0.889 superfamily_Pectin_lyase_fold/virulence pfam_F-box_dom,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_F-box_dom,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,pfscan_F-box_dom,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO10 HGNC ENSG00000147912 tier1 - - 27 0 0.00 46 13 22.03 FBXO10 0 genome.wustl.edu 37 9 37516074 37516074 + Missense_Mutation SNP C C G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 9 37516074 37516074 C G SNP FBXO10 ENST00000432825 human ensembl 74_37 -1 known missense c.2523 p.K841N 1.000 superfamily_Pectin_lyase_fold/virulence,smart_PbH1 pfam_F-box_dom,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_F-box_dom,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,pfscan_F-box_dom,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO10 HGNC ENSG00000147912 12 0 0.00 22 4 15.38 FBXO43 0 genome.wustl.edu 37 8 101146147 101146147 + Silent SNP T T C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 8 101146147 101146147 T C SNP FBXO43 ENST00000428847 human ensembl 74_37 -1 known silent c.2010 p.L670 0.905 pfam_Znf_C6HC,smart_Znf_C6HC pfam_Znf_C6HC,superfamily_F-box_dom,smart_Znf_C6HC - no_errors FBXO43 HGNC ENSG00000156509 19 0 0.00 20 6 23.08 FCRL4 0 genome.wustl.edu 37 1 157550165 157550165 + RNA SNP T T G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 157550165 157550165 T G SNP FCRL4 ENST00000479869 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FCRL4 HGNC ENSG00000163518 tier1 - - 18 0 0.00 37 15 28.85 FECH 0 genome.wustl.edu 37 18 55247402 55247402 + Missense_Mutation SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 18 55247402 55247402 G A SNP FECH ENST00000382873 human ensembl 74_37 -1 known missense c.97 p.P33S 0.958 NULL pfam_Ferrochelatase,tigrfam_Ferrochelatase - no_errors FECH HGNC ENSG00000066926 35 0 0.00 26 4 13.33 FGFRL1 0 genome.wustl.edu 37 4 1019055 1019056 + Frame_Shift_Del DEL CA CA - TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 4 1019055 1019056 CA - DEL FGFRL1 ENST00000264748 human ensembl 74_37 +1 known frame_shift_del c.1435_1436 p.T482fs 1.000:1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FGFRL1 HGNC ENSG00000127418 tier1 27 0 0.00 30 4 11.76 FLG 0 genome.wustl.edu 37 1 152283719 152283719 + Missense_Mutation SNP T T G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 152283719 152283719 T G SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.3643 p.S1215R 0.001 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 - - 144 0 0.00 143 18 11.18 FLJ46361 0 genome.wustl.edu 37 10 124528869 124528869 + RNA SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 10 124528869 124528869 C T SNP FLJ46361 ENST00000439464 human ensembl 74_37 +1 known rna NULL NULL 0.826 - - - no_errors RP11-318C4.2 Clone_based_vega_gene ENSG00000176584 24 0 0.00 39 4 9.30 FMN2 0 genome.wustl.edu 37 1 240371277 240371277 + Silent SNP T T G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 240371277 240371277 T G SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known silent c.3165 p.P1055 0.034 pfam_Formin_homology_1,smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 32 0 0.00 32 5 12.50 FOXP4 0 genome.wustl.edu 37 6 41555242 41555242 + Silent SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 6 41555242 41555242 G T SNP FOXP4 ENST00000307972 human ensembl 74_37 +1 known silent c.864 p.R288 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP4 HGNC ENSG00000137166 26 0 0.00 67 5 6.94 FRAS1 0 genome.wustl.edu 37 4 79461755 79461755 + Missense_Mutation SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 4 79461755 79461755 G A SNP FRAS1 ENST00000264895 human ensembl 74_37 +1 known missense c.11516 p.R3839Q 1.000 NULL pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 tier1 - - 17 0 0.00 20 6 23.08 FREM2 0 genome.wustl.edu 37 13 39451335 39451335 + Nonsense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 13 39451335 39451335 G T SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known nonsense c.8626 p.G2876* 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 78 0 0.00 74 4 5.13 FRG2B 0 genome.wustl.edu 37 10 135439803 135439803 + Silent SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 10 135439803 135439803 C T SNP FRG2B ENST00000425520 human ensembl 74_37 -1 known silent c.183 p.S61 0.213 NULL NULL - no_errors FRG2B HGNC ENSG00000225899 tier1 rs202189720 - 15 0 0.00 9 4 30.77 FRRS1 0 genome.wustl.edu 37 1 100176454 100176454 + Nonsense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 100176454 100176454 G T SNP FRRS1 ENST00000287474 human ensembl 74_37 -1 known nonsense c.1532 p.S511* 0.268 pfscan_Cyt_b561/ferric_Rdtase_TM pfam_Reeler_dom,pfam_DOMON_domain,smart_DOMON_domain,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_DOMON_domain,pfscan_Reeler_dom,pfscan_Cyt_b561/ferric_Rdtase_TM - no_errors FRRS1 HGNC ENSG00000156869 tier1 - - 57 0 0.00 51 4 7.14 FSCB 0 genome.wustl.edu 37 14 44974292 44974292 + Missense_Mutation SNP T T G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 14 44974292 44974292 T G SNP FSCB ENST00000340446 human ensembl 74_37 -1 known missense c.1899 p.E633D 0.000 NULL NULL - no_errors FSCB HGNC ENSG00000189139 59 0 0.00 58 5 7.94 GABPB1 0 genome.wustl.edu 37 15 50592988 50592988 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 15 50592988 50592988 G T SNP GABPB1 ENST00000220429 human ensembl 74_37 -1 known missense c.731 p.P244Q 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors GABPB1 HGNC ENSG00000104064 22 0 0.00 30 2 6.25 GABRA2 0 genome.wustl.edu 37 4 46314669 46314669 + Missense_Mutation SNP G G C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 4 46314669 46314669 G C SNP GABRA2 ENST00000540012 human ensembl 74_37 -1 known missense c.155 p.P52R 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa2_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRA2 HGNC ENSG00000151834 tier1 - - 61 0 0.00 62 10 13.89 GAS2 0 genome.wustl.edu 37 11 22696495 22696495 + Missense_Mutation SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 11 22696495 22696495 G A SNP GAS2 ENST00000278187 human ensembl 74_37 +1 known missense c.80 p.S27N 1.000 superfamily_CH-domain pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2 HGNC ENSG00000148935 26 0 0.00 69 4 5.48 GKAP1 0 genome.wustl.edu 37 9 86368199 86368199 + Silent SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 9 86368199 86368199 G A SNP GKAP1 ENST00000376371 human ensembl 74_37 -1 known silent c.814 p.L272 1.000 NULL NULL - no_errors GKAP1 HGNC ENSG00000165113 58 0 0.00 72 4 5.26 GLRB 0 genome.wustl.edu 37 4 158041814 158041814 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 4 158041814 158041814 G T SNP GLRB ENST00000264428 human ensembl 74_37 +1 known missense c.229 p.G77C 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_B,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRB HGNC ENSG00000109738 tier1 - - 44 0 0.00 37 7 15.91 GMEB1 0 genome.wustl.edu 37 1 29041385 29041386 + RNA INS - - A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 29041385 29041386 - A INS GMEB1 ENST00000480454 human ensembl 74_37 +1 known rna NULL NULL 0.437:0.252 - - - no_errors GMEB1 HGNC ENSG00000162419 tier1 21 0 0.00 25 4 13.79 GNA13 0 genome.wustl.edu 37 17 63049639 63049639 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 17 63049639 63049639 C T SNP GNA13 ENST00000439174 human ensembl 74_37 -1 known missense c.491 p.R164Q 1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_12 - no_errors GNA13 HGNC ENSG00000120063 tier1 - - 35 0 0.00 42 4 8.70 GNRH1 0 genome.wustl.edu 37 8 25276973 25276973 + Missense_Mutation SNP T T C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 8 25276973 25276973 T C SNP GNRH1 ENST00000276414 human ensembl 74_37 -1 known missense c.241 p.S81G 1.000 prints_Gonadoliberin_I_precursor pfam_GnRH,prints_Gonadoliberin_I_precursor - no_errors GNRH1 HGNC ENSG00000147437 tier1 - - 41 0 0.00 49 7 12.50 GOLGA3 0 genome.wustl.edu 37 12 133378518 133378518 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 12 133378518 133378518 G T SNP GOLGA3 ENST00000204726 human ensembl 74_37 -1 known missense c.1635 p.S545R 1.000 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 26 0 0.00 28 4 12.50 GPATCH4 0 genome.wustl.edu 37 1 156565052 156565052 + Missense_Mutation SNP T T A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 156565052 156565052 T A SNP GPATCH4 ENST00000438976 human ensembl 74_37 -1 known missense c.1081 p.T361S 0.001 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH4 HGNC ENSG00000160818 31 0 0.00 36 5 12.20 GPM6A 0 genome.wustl.edu 37 4 176622760 176622760 + Silent SNP T T G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 4 176622760 176622760 T G SNP GPM6A ENST00000280187 human ensembl 74_37 -1 known silent c.196 p.R66 1.000 pfam_Myelin_PLP pfam_Myelin_PLP,smart_Myelin_PLP,prints_Myelin_PLP - no_errors GPM6A HGNC ENSG00000150625 39 0 0.00 38 2 5.00 GPR150 0 genome.wustl.edu 37 5 94957074 94957074 + Missense_Mutation SNP G G C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 5 94957074 94957074 G C SNP GPR150 ENST00000380007 human ensembl 74_37 +1 known missense c.1095 p.Q365H 0.014 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR150 HGNC ENSG00000178015 tier1 - - 16 0 0.00 16 4 20.00 GRIA1 0 genome.wustl.edu 37 5 153026562 153026562 + Missense_Mutation SNP T T G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 5 153026562 153026562 T G SNP GRIA1 ENST00000448073 human ensembl 74_37 +1 known missense c.325 p.S109A 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 - - 70 0 0.00 56 25 30.86 GRIA4 0 genome.wustl.edu 37 11 105483135 105483135 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 11 105483135 105483135 C T SNP GRIA4 ENST00000282499 human ensembl 74_37 +1 known missense c.221 p.A74V 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 GRIA4 HGNC ENSG00000152578 tier1 - - 35 0 0.00 36 4 10.00 GRXCR1 0 genome.wustl.edu 37 4 42895333 42895333 + Missense_Mutation SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 4 42895333 42895333 G A SNP GRXCR1 ENST00000399770 human ensembl 74_37 +1 known missense c.50 p.R17Q 1.000 NULL pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom - no_errors GRXCR1 HGNC ENSG00000215203 tier1 - - 34 0 0.00 47 6 11.32 GSTCD 0 genome.wustl.edu 37 4 106638997 106638997 + Missense_Mutation SNP T T A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 4 106638997 106638997 T A SNP GSTCD ENST00000360505 human ensembl 74_37 +1 known missense c.227 p.I76N 0.039 NULL pfam_rRNA_ssu_MeTfrase_G,pfam_Small_mtfrase_dom,superfamily_Glutathione-S-Trfase_C-like - no_errors GSTCD HGNC ENSG00000138780 tier1 - - 59 0 0.00 36 4 10.00 HAND2-AS1 0 genome.wustl.edu 37 4 174448555 174448555 + RNA SNP A A T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 4 174448555 174448555 A T SNP HAND2-AS1 ENST00000512099 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors HAND2-AS1 HGNC ENSG00000237125 tier1 - - 64 0 0.00 35 15 30.00 HAX1 0 genome.wustl.edu 37 1 154247904 154247904 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 154247904 154247904 G T SNP HAX1 ENST00000483970 human ensembl 74_37 +1 known missense c.723 p.E241D 0.996 pirsf_HS1--assoc_X-1 pirsf_HS1--assoc_X-1 - no_errors HAX1 HGNC ENSG00000143575 tier1 - - 54 0 0.00 81 5 5.81 HBBP1 0 genome.wustl.edu 37 11 5263438 5263438 + RNA SNP A A C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 11 5263438 5263438 A C SNP HBBP1 ENST00000454892 human ensembl 74_37 -1 known rna NULL NULL 0.015 - - - no_errors HBBP1 HGNC ENSG00000229988 tier1 - - 24 0 0.00 20 11 35.48 HCFC2 0 genome.wustl.edu 37 12 104481790 104481790 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 12 104481790 104481790 G T SNP HCFC2 ENST00000229330 human ensembl 74_37 +1 known missense c.1258 p.G420C 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors HCFC2 HGNC ENSG00000111727 tier1 - - 43 0 0.00 50 4 7.41 HEG1 0 genome.wustl.edu 37 3 124732754 124732754 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 3 124732754 124732754 G T SNP HEG1 ENST00000311127 human ensembl 74_37 -1 known missense c.1669 p.L557M 0.001 NULL pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HEG1 HGNC ENSG00000173706 21 0 0.00 36 2 5.26 HIST1H4B 0 genome.wustl.edu 37 6 26027344 26027344 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 6 26027344 26027344 C T SNP HIST1H4B ENST00000377364 human ensembl 74_37 -1 known missense c.137 p.R46Q 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4B HGNC ENSG00000124529 tier1 - - 26 0 0.00 35 5 12.50 HMHA1 0 genome.wustl.edu 37 19 1083036 1083036 + Silent SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 19 1083036 1083036 G T SNP HMHA1 ENST00000313093 human ensembl 74_37 +1 known silent c.2715 p.S905 0.945 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors HMHA1 HGNC ENSG00000180448 tier1 - - 19 0 0.00 8 3 27.27 HNRNPL 0 genome.wustl.edu 37 19 39327400 39327400 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 19 39327400 39327400 G T SNP HNRNPL ENST00000221419 human ensembl 74_37 -1 known missense c.1732 p.L578M 1.000 tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors HNRNPL HGNC ENSG00000104824 tier1 - - 51 0 0.00 56 4 6.67 HOMER1 0 genome.wustl.edu 37 5 78746879 78746879 + Missense_Mutation SNP C C G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 5 78746879 78746879 C G SNP HOMER1 ENST00000334082 human ensembl 74_37 -1 known missense c.228 p.Q76H 1.000 pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors HOMER1 HGNC ENSG00000152413 tier1 - - 71 0 0.00 66 4 5.71 HOOK3 0 genome.wustl.edu 37 8 42828536 42828536 + Missense_Mutation SNP A A T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 8 42828536 42828536 A T SNP HOOK3 ENST00000307602 human ensembl 74_37 +1 known missense c.1227 p.E409D 1.000 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_t-SNARE - no_errors HOOK3 HGNC ENSG00000168172 tier1 - - 40 0 0.00 42 4 8.70 HOXA4 0 genome.wustl.edu 37 7 27169012 27169012 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 7 27169012 27169012 G T SNP HOXA4 ENST00000360046 human ensembl 74_37 -1 known missense c.795 p.N265K 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA4 HGNC ENSG00000197576 tier1 - - 63 0 0.00 67 4 5.63 HOXB7 0 genome.wustl.edu 37 17 46685137 46685137 + RNA SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 17 46685137 46685137 G A SNP HOXB7 ENST00000567101 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors HOXB7 HGNC ENSG00000260027 tier1 - - 26 0 0.00 21 4 15.38 HR 0 genome.wustl.edu 37 8 21983168 21983168 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 8 21983168 21983168 C T SNP HR ENST00000381418 human ensembl 74_37 -1 known missense c.1483 p.A495T 0.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors HR HGNC ENSG00000168453 tier1 - - 38 0 0.00 37 4 9.76 HRH2 0 genome.wustl.edu 37 5 175110525 175110525 + Silent SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 5 175110525 175110525 C T SNP HRH2 ENST00000377291 human ensembl 74_37 +1 known silent c.289 p.L97 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H2_rcpt,prints_GPCR_Rhodpsn,prints_5HT6_rcpt - no_errors HRH2 HGNC ENSG00000113749 tier1 - - 23 0 0.00 15 5 25.00 HRNR 0 genome.wustl.edu 37 1 152192299 152192299 + Silent SNP A A T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 152192299 152192299 A T SNP HRNR ENST00000368801 human ensembl 74_37 -1 known silent c.1806 p.S602 0.003 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 tier1 - - 92 0 0.00 79 43 34.96 HSD17B13 0 genome.wustl.edu 37 4 88235037 88235037 + Missense_Mutation SNP G G C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 4 88235037 88235037 G C SNP HSD17B13 ENST00000328546 human ensembl 74_37 -1 known missense c.633 p.I211M 1.000 prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B13 HGNC ENSG00000170509 tier1 - - 33 0 0.00 31 9 22.50 HSPG2 0 genome.wustl.edu 37 1 22188551 22188551 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 22188551 22188551 C T SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.4798 p.G1600R 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 tier1 rs201665758 - 47 0 0.00 36 12 25.00 HTR1E 0 genome.wustl.edu 37 6 87726028 87726028 + Missense_Mutation SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 6 87726028 87726028 G A SNP HTR1E ENST00000305344 human ensembl 74_37 +1 known missense c.976 p.A326T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR1E HGNC ENSG00000168830 tier1 - - 39 0 0.00 66 5 7.04 HUWE1 0 genome.wustl.edu 37 X 53565335 53565335 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c X 53565335 53565335 C T SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.11959 p.D3987N 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 tier1 - - 27 0 0.00 36 5 12.20 IDH3A 0 genome.wustl.edu 37 15 78458517 78458517 + Nonsense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 15 78458517 78458517 C T SNP IDH3A ENST00000561366 human ensembl 74_37 +1 putative nonsense c.91 p.Q31* 0.998 NULL pfam_IsoPropMal-DH-like_dom - no_errors IDH3A HGNC ENSG00000166411 tier1 - - 42 0 0.00 59 4 6.35 IFI30 0 genome.wustl.edu 37 19 18284687 18284689 + In_Frame_Del DEL GCT GCT - TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 19 18284687 18284689 GCT 0 DEL IFI30 ENST00000407280 human ensembl 74_37 +1 known in_frame_del c.36_38 p.L16in_frame_del 0.167:0.723:0.800 NULL pfam_Interferon-induced_GILT - no_errors IFI30 HGNC ENSG00000216490 56 0 0.00 59 6 9.23 IL11RA 0 genome.wustl.edu 37 9 34657096 34657096 + Nonsense_Mutation SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 9 34657096 34657096 G A SNP IL11RA ENST00000318041 human ensembl 74_37 +1 known nonsense c.396 p.W132* 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3 superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IL11RA HGNC ENSG00000137070 tier1 - - 58 0 0.00 57 7 10.77 IL21 0 genome.wustl.edu 37 4 123542066 123542066 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 4 123542066 123542066 C T SNP IL21 ENST00000264497 human ensembl 74_37 -1 known missense c.101 p.R34H 0.946 pfam_IL-15/IL-21_fam pfam_IL-15/IL-21_fam - no_errors IL21 HGNC ENSG00000138684 tier1 - - 20 0 0.00 20 5 20.00 ILKAP 0 genome.wustl.edu 37 2 239098577 239098577 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 2 239098577 239098577 G T SNP ILKAP ENST00000254654 human ensembl 74_37 -1 known missense c.215 p.T72N 0.042 NULL pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors ILKAP HGNC ENSG00000132323 tier1 - - 39 0 0.00 64 4 5.88 INSR 0 genome.wustl.edu 37 19 7184523 7184523 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 19 7184523 7184523 G T SNP INSR ENST00000302850 human ensembl 74_37 -1 known missense c.778 p.L260M 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSR HGNC ENSG00000171105 54 0 0.00 41 3 6.82 INTS2 0 genome.wustl.edu 37 17 59974886 59974886 + Missense_Mutation SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 17 59974886 59974886 G A SNP INTS2 ENST00000444766 human ensembl 74_37 -1 known missense c.1462 p.H488Y 1.000 NULL NULL - no_errors INTS2 HGNC ENSG00000108506 tier1 - - 42 0 0.00 33 9 21.43 INTS3 0 genome.wustl.edu 37 1 153746484 153746484 + RNA SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 153746484 153746484 G T SNP INTS3 ENST00000476843 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors INTS3 HGNC ENSG00000143624 tier1 rs199663864 - 24 0 0.00 39 6 13.33 INVS 0 genome.wustl.edu 37 9 102866832 102866832 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 9 102866832 102866832 C T SNP INVS ENST00000262457 human ensembl 74_37 +1 known missense c.29 p.A10V 0.916 NULL pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt - no_errors INVS HGNC ENSG00000119509 34 0 0.00 29 2 6.45 IRX4 0 genome.wustl.edu 37 5 1880924 1880924 + Missense_Mutation SNP A A C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 5 1880924 1880924 A C SNP IRX4 ENST00000231357 human ensembl 74_37 -1 known missense c.322 p.S108A 0.001 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX4 HGNC ENSG00000113430 tier1 - - 91 0 0.00 92 31 25.20 ITPR2 0 genome.wustl.edu 37 12 26808727 26808727 + Missense_Mutation SNP T T A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 12 26808727 26808727 T A SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known missense c.2503 p.M835L 0.998 superfamily_ARM-type_fold pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 53 0 0.00 68 4 5.56 KBTBD6 0 genome.wustl.edu 37 13 41706585 41706585 + Silent SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 13 41706585 41706585 C T SNP KBTBD6 ENST00000379485 human ensembl 74_37 -1 known silent c.63 p.R21 0.764 NULL pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KBTBD6 HGNC ENSG00000165572 67 0 0.00 52 4 7.14 KCNAB1 0 genome.wustl.edu 37 3 156254468 156254468 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 3 156254468 156254468 C T SNP KCNAB1 ENST00000490337 human ensembl 74_37 +1 known missense c.1192 p.H398Y 0.989 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB - no_errors KCNAB1 HGNC ENSG00000169282 tier1 - - 34 0 0.00 41 4 8.89 KCNH3 0 genome.wustl.edu 37 12 49950970 49950970 + Silent SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 12 49950970 49950970 C T SNP KCNH3 ENST00000257981 human ensembl 74_37 +1 known silent c.2580 p.S860 0.298 NULL pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH3 HGNC ENSG00000135519 tier1 - - 29 0 0.00 41 4 8.89 KCNIP4 0 genome.wustl.edu 37 4 20985516 20985516 + RNA SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 4 20985516 20985516 C T SNP KCNIP4 ENST00000382149 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors KCNIP4 HGNC ENSG00000185774 tier1 - - 23 0 0.00 21 4 16.00 KIAA1407 0 genome.wustl.edu 37 3 113697767 113697767 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 3 113697767 113697767 C T SNP KIAA1407 ENST00000295878 human ensembl 74_37 -1 known missense c.2398 p.A800T 0.008 NULL NULL - no_errors KIAA1407 HGNC ENSG00000163617 tier1 - - 57 0 0.00 54 4 6.90 KIAA1551 0 genome.wustl.edu 37 12 32135930 32135930 + Missense_Mutation SNP A A G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 12 32135930 32135930 A G SNP KIAA1551 ENST00000312561 human ensembl 74_37 +1 known missense c.2041 p.K681E 1.000 NULL NULL - no_errors KIAA1551 HGNC ENSG00000174718 tier1 - - 21 0 0.00 29 10 25.64 KIF13B 0 genome.wustl.edu 37 8 29023209 29023209 + Silent SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 8 29023209 29023209 C T SNP KIF13B ENST00000524189 human ensembl 74_37 -1 known silent c.1239 p.E413 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13B HGNC ENSG00000197892 tier1 - - 29 0 0.00 53 9 14.52 KLHL23 0 genome.wustl.edu 37 2 170592266 170592266 + Missense_Mutation SNP A A T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 2 170592266 170592266 A T SNP KLHL23 ENST00000272797 human ensembl 74_37 +1 known missense c.742 p.T248S 0.595 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL23 HGNC ENSG00000213160 24 0 0.00 20 2 9.09 KLHL28 0 genome.wustl.edu 37 14 45415050 45415050 + Missense_Mutation SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 14 45415050 45415050 G A SNP KLHL28 ENST00000396128 human ensembl 74_37 -1 known missense c.82 p.L28F 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL28 HGNC ENSG00000179454 17 0 0.00 20 2 9.09 KMT2A 0 genome.wustl.edu 37 11 118376220 118376220 + Missense_Mutation SNP A A G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 11 118376220 118376220 A G SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known missense c.9604 p.S3202G 1.000 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_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 tier1 - - 30 0 0.00 26 4 13.33 KMT2D 0 genome.wustl.edu 37 12 49443863 49443863 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 12 49443863 49443863 G T SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.3508 p.P1170T 0.940 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 tier1 - - 66 0 0.00 70 5 6.67 KRTAP26-1 0 genome.wustl.edu 37 21 31691923 31691923 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 21 31691923 31691923 C T SNP KRTAP26-1 ENST00000360542 human ensembl 74_37 -1 known missense c.431 p.R144H 0.037 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP26-1 HGNC ENSG00000197683 43 0 0.00 27 2 6.90 L3HYPDH 0 genome.wustl.edu 37 14 59946071 59946072 + Splice_Site INS - - A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 14 59946071 59946072 - A INS L3HYPDH ENST00000247194 human ensembl 74_37 -1 known splice_site_ins c.509-3_509-2 e2-2 1.000:0.844 - - - no_errors L3HYPDH HGNC ENSG00000126790 tier1 35 0 0.00 34 3 8.11 LEO1 0 genome.wustl.edu 37 15 52258480 52258480 + Missense_Mutation SNP A A G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 15 52258480 52258480 A G SNP LEO1 ENST00000299601 human ensembl 74_37 -1 known missense c.280 p.S94P 1.000 NULL pfam_Leo1 - no_errors LEO1 HGNC ENSG00000166477 tier1 - - 44 0 0.00 48 4 7.69 LLGL2 0 genome.wustl.edu 37 17 73566270 73566270 + Missense_Mutation SNP T T C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 17 73566270 73566270 T C SNP LLGL2 ENST00000392550 human ensembl 74_37 +1 known missense c.1808 p.V603A 1.000 superfamily_WD40_repeat_dom,prints_Lethal2_giant pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL2 HGNC ENSG00000073350 55 0 0.00 75 4 5.00 LNPEP 0 genome.wustl.edu 37 5 96315637 96315637 + Missense_Mutation SNP A A T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 5 96315637 96315637 A T SNP LNPEP ENST00000231368 human ensembl 74_37 +1 known missense c.815 p.Y272F 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors LNPEP HGNC ENSG00000113441 tier1 - - 36 0 0.00 23 4 14.81 LOC100132891 0 genome.wustl.edu 37 8 72755778 72755778 + Missense_Mutation SNP C C G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 8 72755778 72755778 C G SNP LOC100132891 ENST00000537896 human ensembl 74_37 +1 known missense c.142 p.P48A 0.000 NULL NULL - no_errors RP11-383H13.1 Clone_based_vega_gene ENSG00000235531 tier1 - - 43 0 0.00 28 5 15.15 LOC728537 0 genome.wustl.edu 37 2 98319210 98319210 + RNA SNP T T A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 2 98319210 98319210 T A SNP LOC728537 ENST00000445382 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC017099.3 Clone_based_vega_gene ENSG00000228486 tier1 - - 37 0 0.00 10 20 66.67 LPGAT1 0 genome.wustl.edu 37 1 211952282 211952282 + Missense_Mutation SNP T T A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 211952282 211952282 T A SNP LPGAT1 ENST00000366997 human ensembl 74_37 -1 known missense c.832 p.T278S 1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors LPGAT1 HGNC ENSG00000123684 49 0 0.00 63 4 5.97 LPHN2 0 genome.wustl.edu 37 1 82456713 82456713 + Missense_Mutation SNP T T C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 82456713 82456713 T C SNP LPHN2 ENST00000370717 human ensembl 74_37 +1 known missense c.4309 p.C1437R 1.000 pfam_GPCR_2_latrophilin_rcpt_C pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors LPHN2 HGNC ENSG00000117114 30 0 0.00 19 3 13.64 LPIN3 0 genome.wustl.edu 37 20 39976277 39976277 + Missense_Mutation SNP A A G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 20 39976277 39976277 A G SNP LPIN3 ENST00000373257 human ensembl 74_37 +1 known missense c.278 p.E93G 0.974 pfam_Lipin_N pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN3 HGNC ENSG00000132793 tier1 - - 43 0 0.00 52 4 7.14 LPPR4 0 genome.wustl.edu 37 1 99772254 99772254 + Silent SNP T T G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 99772254 99772254 T G SNP LPPR4 ENST00000370185 human ensembl 74_37 +1 known silent c.1980 p.T660 0.057 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR4 Uniprot_gn ENSG00000117600 tier1 - - 21 0 0.00 20 8 28.57 LRBA 0 genome.wustl.edu 37 4 151682972 151682972 + Missense_Mutation SNP C C A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 4 151682972 151682972 C A SNP LRBA ENST00000357115 human ensembl 74_37 -1 known missense c.5608 p.A1870S 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom - no_errors LRBA HGNC ENSG00000198589 56 0 0.00 62 4 6.06 LRP1B 0 genome.wustl.edu 37 2 141214096 141214096 + Silent SNP A A G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 2 141214096 141214096 A G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known silent c.9891 p.T3297 0.997 superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom 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 - - 69 0 0.00 42 32 43.24 LRPPRC 0 genome.wustl.edu 37 2 44126659 44126659 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 2 44126659 44126659 C T SNP LRPPRC ENST00000260665 human ensembl 74_37 -1 known missense c.3655 p.A1219T 0.409 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC ENSG00000138095 tier1 - - 51 0 0.00 70 4 5.41 LRRC7 0 genome.wustl.edu 37 1 70488956 70488956 + Missense_Mutation SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 70488956 70488956 G A SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known missense c.1579 p.A527T 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 tier1 - - 47 0 0.00 37 4 9.76 LRRC9 0 genome.wustl.edu 37 14 60405167 60405167 + Missense_Mutation SNP A A T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 14 60405167 60405167 A T SNP LRRC9 ENST00000254271 human ensembl 74_37 +1 known missense c.603 p.Q201H 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC9 HGNC ENSG00000131951 tier1 - - 29 0 0.00 53 4 7.02 LRRIQ1 0 genome.wustl.edu 37 12 85517861 85517861 + Silent SNP T T C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 12 85517861 85517861 T C SNP LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known silent c.3571 p.L1191 0.006 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 tier1 - - 28 0 0.00 22 8 25.81 MACROD2 0 genome.wustl.edu 37 20 15843407 15843407 + Silent SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 20 15843407 15843407 C T SNP MACROD2 ENST00000310348 human ensembl 74_37 +1 known silent c.663 p.F221 1.000 pfscan_Macro_dom pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom - no_errors MACROD2 HGNC ENSG00000172264 tier1 - - 41 0 0.00 62 4 6.06 MAGEA10 0 genome.wustl.edu 37 X 151303610 151303610 + Silent SNP C C A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c X 151303610 151303610 C A SNP MAGEA10 ENST00000244096 human ensembl 74_37 -1 known silent c.483 p.L161 0.010 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA10 HGNC ENSG00000124260 tier1 - - 30 0 0.00 18 4 18.18 MAGEE2 0 genome.wustl.edu 37 X 75004857 75004857 + Missense_Mutation SNP G G C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c X 75004857 75004857 G C SNP MAGEE2 ENST00000373359 human ensembl 74_37 -1 known missense c.30 p.H10Q 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE2 HGNC ENSG00000186675 tier1 - - 16 0 0.00 11 11 50.00 MAN1C1 0 genome.wustl.edu 37 1 26085250 26085250 + RNA SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 26085250 26085250 C T SNP MAN1C1 ENST00000473891 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MAN1C1 HGNC ENSG00000117643 tier1 - - 41 0 0.00 32 4 11.11 MAOA 0 genome.wustl.edu 37 X 43571184 43571184 + Silent SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c X 43571184 43571184 C T SNP MAOA ENST00000338702 human ensembl 74_37 +1 known silent c.372 p.Y124 1.000 pfam_Amino_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_FAD_bind_dom,prints_Flavin_amine_oxidase - no_errors MAOA HGNC ENSG00000189221 tier1 - - 19 0 0.00 17 15 46.88 MAP2K2 0 genome.wustl.edu 37 19 4099205 4099205 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 19 4099205 4099205 C T SNP MAP2K2 ENST00000262948 human ensembl 74_37 -1 known missense c.913 p.V305I 0.998 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,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 MAP2K2 HGNC ENSG00000126934 19 0 0.00 34 4 10.53 MAST2 0 genome.wustl.edu 37 1 46494458 46494458 + Missense_Mutation SNP T T G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 46494458 46494458 T G SNP MAST2 ENST00000361297 human ensembl 74_37 +1 known missense c.2071 p.Y691D 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_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST2 HGNC ENSG00000086015 tier1 - - 51 0 0.00 38 6 13.64 MBIP 0 genome.wustl.edu 37 14 36770037 36770037 + RNA DEL A A - TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 14 36770037 36770037 A - DEL MBIP ENST00000604154 human ensembl 74_37 -1 putative rna NULL NULL 0.241 - - - no_errors MBIP HGNC ENSG00000151332 tier1 49 0 0.00 57 11 16.18 MBIP 0 genome.wustl.edu 37 14 36777397 36777397 + Splice_Site SNP T T A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 14 36777397 36777397 T A SNP MBIP ENST00000416007 human ensembl 74_37 -1 known splice_site c.791-2 e7-2 1.000 - - - no_errors MBIP HGNC ENSG00000151332 tier1 - - 41 0 0.00 20 8 28.57 MC4R 0 genome.wustl.edu 37 18 58038875 58038875 + Silent SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 18 58038875 58038875 G T SNP MC4R ENST00000299766 human ensembl 74_37 -1 known silent c.708 p.R236 0.998 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Mcort_rcpt_4 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_rcpt_4,prints_GPCR_Rhodpsn,prints_Melancort_rcpt,prints_Cnbnoid_rcpt - no_errors MC4R HGNC ENSG00000166603 22 0 0.00 26 2 7.14 MDGA1 0 genome.wustl.edu 37 6 37613816 37613816 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 6 37613816 37613816 G T SNP MDGA1 ENST00000297153 human ensembl 74_37 -1 known missense c.2249 p.T750N 0.000 NULL pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA1 HGNC ENSG00000112139 tier1 - - 37 0 0.00 82 14 14.43 MDH1B 0 genome.wustl.edu 37 2 207619816 207619816 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 2 207619816 207619816 G T SNP MDH1B ENST00000374412 human ensembl 74_37 -1 known missense c.827 p.A276E 0.060 NULL pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C - no_errors MDH1B HGNC ENSG00000138400 31 0 0.00 44 3 6.38 MEX3B 0 genome.wustl.edu 37 15 82335721 82335721 + Missense_Mutation SNP G G C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 15 82335721 82335721 G C SNP MEX3B ENST00000329713 human ensembl 74_37 -1 known missense c.1490 p.S497C 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3B HGNC ENSG00000183496 tier1 - - 37 0 0.00 28 10 26.32 MEX3D 0 genome.wustl.edu 37 19 1556852 1556852 + Silent SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 19 1556852 1556852 C T SNP MEX3D ENST00000388824 human ensembl 74_37 -1 known silent c.666 p.P222 0.008 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3D HGNC ENSG00000181588 51 0 0.00 28 2 6.67 MIR4640 0 genome.wustl.edu 37 6 30858733 30858733 + RNA SNP T T C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 6 30858733 30858733 T C SNP MIR4640 ENST00000581824 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR4640 HGNC ENSG00000264594 20 0 0.00 12 7 36.84 MIR509-3 0 genome.wustl.edu 37 X 146341198 146341198 + RNA SNP A A G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c X 146341198 146341198 A G SNP MIR509-3 ENST00000390725 human ensembl 74_37 -1 known rna NULL NULL 0.012 - - - no_errors MIR509-3 HGNC ENSG00000212014 tier1 - - 30 0 0.00 30 7 18.92 MIR548F1 0 genome.wustl.edu 37 10 56367692 56367692 + RNA SNP T T A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 10 56367692 56367692 T A SNP MIR548F1 ENST00000408667 human ensembl 74_37 -1 known rna NULL NULL 0.018 - - - no_errors MIR548F1 HGNC ENSG00000221594 tier1 - - 40 0 0.00 32 11 25.58 MLLT4-AS1 0 genome.wustl.edu 37 6 168227147 168227147 + RNA SNP A A G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 6 168227147 168227147 A G SNP MLLT4-AS1 ENST00000359760 human ensembl 74_37 -1 known rna NULL NULL 0.482 - - - no_errors MLLT4-AS1 HGNC ENSG00000198221 tier1 - - 213 0 0.00 252 24 8.54 MMD 0 genome.wustl.edu 37 17 53488754 53488754 + Missense_Mutation SNP C C G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 17 53488754 53488754 C G SNP MMD ENST00000262065 human ensembl 74_37 -1 known missense c.133 p.G45R 1.000 pfam_HlyIII-related,tigrfam_HylIII pfam_HlyIII-related,tigrfam_HylIII - no_errors MMD HGNC ENSG00000108960 36 0 0.00 36 2 5.26 MNDA 0 genome.wustl.edu 37 1 158815416 158815416 + Silent SNP A A C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 158815416 158815416 A C SNP MNDA ENST00000368141 human ensembl 74_37 +1 known silent c.610 p.R204 0.000 pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors MNDA HGNC ENSG00000163563 tier1 - - 40 0 0.00 33 19 36.54 MOV10 0 genome.wustl.edu 37 1 113231692 113231692 + Silent SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 113231692 113231692 G A SNP MOV10 ENST00000357443 human ensembl 74_37 +1 known silent c.273 p.R91 0.991 NULL superfamily_P-loop_NTPase - no_errors MOV10 HGNC ENSG00000155363 tier1 - - 61 0 0.00 33 7 17.50 MROH2B 0 genome.wustl.edu 37 5 40999877 40999877 + Missense_Mutation SNP T T G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 5 40999877 40999877 T G SNP MROH2B ENST00000399564 human ensembl 74_37 -1 known missense c.4487 p.K1496T 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 tier1 - - 47 0 0.00 46 11 19.30 MROH9 0 genome.wustl.edu 37 1 170928680 170928680 + Missense_Mutation SNP C C A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 170928680 170928680 C A SNP MROH9 ENST00000367759 human ensembl 74_37 +1 known missense c.230 p.P77Q 0.378 NULL superfamily_ARM-type_fold - no_errors MROH9 HGNC ENSG00000117501 tier1 - - 32 0 0.00 52 11 17.46 MS4A14 0 genome.wustl.edu 37 11 60170472 60170472 + Missense_Mutation SNP G G C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 11 60170472 60170472 G C SNP MS4A14 ENST00000300187 human ensembl 74_37 +1 known missense c.406 p.D136H 0.000 pfam_CD20-like pfam_CD20-like - no_errors MS4A14 HGNC ENSG00000166928 tier1 - - 55 0 0.00 75 14 15.73 MSC 0 genome.wustl.edu 37 8 72754825 72754825 + RNA SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 8 72754825 72754825 C T SNP MSC ENST00000518440 human ensembl 74_37 -1 putative rna NULL NULL 0.582 - - - no_errors MSC HGNC ENSG00000178860 tier1 - - 34 0 0.00 25 9 26.47 MST1 0 genome.wustl.edu 37 3 49721800 49721800 + Missense_Mutation SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 3 49721800 49721800 G A SNP MST1 ENST00000449682 human ensembl 74_37 -1 known missense c.1963 p.R655W 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors MST1 HGNC ENSG00000173531 43 0 0.00 72 4 5.26 MT-ND5 0 genome.wustl.edu 37 MT 12488 12488 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c MT 12488 12488 C T SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.152 p.T51M NULL tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 tier1 - - 34 0 0.00 3 3 50.00 MX2 0 genome.wustl.edu 37 21 42748941 42748941 + Silent SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 21 42748941 42748941 C T SNP MX2 ENST00000330714 human ensembl 74_37 +1 known silent c.108 p.F36 0.000 NULL pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,superfamily_P-loop_NTPase,superfamily_CH-domain,smart_Dynamin_GTPase,smart_GED,prints_Dynamin_SF - no_errors MX2 HGNC ENSG00000183486 tier1 - - 31 0 0.00 19 14 42.42 MZF1 0 genome.wustl.edu 37 19 59081731 59081731 + Nonsense_Mutation SNP G G C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 19 59081731 59081731 G C SNP MZF1 ENST00000215057 human ensembl 74_37 -1 known nonsense c.560 p.S187* 0.285 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors MZF1 HGNC ENSG00000099326 tier1 - - 37 0 0.00 55 5 8.20 NALCN 0 genome.wustl.edu 37 13 101762982 101762982 + Silent SNP A A C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 13 101762982 101762982 A C SNP NALCN ENST00000251127 human ensembl 74_37 -1 known silent c.2352 p.T784 0.795 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 tier1 - - 39 0 0.00 32 6 15.79 NAV3 0 genome.wustl.edu 37 12 78392127 78392127 + Missense_Mutation SNP C C A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 12 78392127 78392127 C A SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known missense c.751 p.P251T 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 tier1 - - 27 0 0.00 20 5 20.00 NBEA 0 genome.wustl.edu 37 13 35756623 35756623 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 13 35756623 35756623 G T SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.4789 p.G1597C 0.997 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 tier1 - - 52 0 0.00 49 4 7.55 NCAPG2 0 genome.wustl.edu 37 7 158485569 158485569 + Missense_Mutation SNP T T C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 7 158485569 158485569 T C SNP NCAPG2 ENST00000409339 human ensembl 74_37 -1 known missense c.347 p.Y116C 0.354 superfamily_ARM-type_fold pfam_Condensin2_G2,superfamily_ARM-type_fold - no_errors NCAPG2 HGNC ENSG00000146918 tier1 - - 77 0 0.00 62 4 6.06 NCKAP1 0 genome.wustl.edu 37 2 183806893 183806894 + Splice_Site INS - - A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 2 183806893 183806894 - A INS NCKAP1 ENST00000360982 human ensembl 74_37 -1 known splice_site_ins c.2620-3_2620-2 e25-2 0.999:0.019 - - - no_errors NCKAP1 HGNC ENSG00000061676 tier1 27 0 0.00 26 5 16.13 NCKAP5 0 genome.wustl.edu 37 2 133751795 133751795 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 2 133751795 133751795 C T SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known missense c.359 p.R120Q 1.000 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 23 0 0.00 31 2 6.06 NECAB1 0 genome.wustl.edu 37 8 91893332 91893332 + Silent SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 8 91893332 91893332 C T SNP NECAB1 ENST00000417640 human ensembl 74_37 +1 known silent c.331 p.L111 1.000 NULL pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NECAB1 HGNC ENSG00000123119 tier1 - - 27 0 0.00 46 6 11.54 NEK10 0 genome.wustl.edu 37 3 27337137 27337137 + Silent SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 3 27337137 27337137 C T SNP NEK10 ENST00000341435 human ensembl 74_37 -1 known silent c.1275 p.K425 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NEK10 HGNC ENSG00000163491 tier1 - - 56 0 0.00 49 4 7.55 NELL2 0 genome.wustl.edu 37 12 45171055 45171055 + Missense_Mutation SNP A A C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 12 45171055 45171055 A C SNP NELL2 ENST00000437801 human ensembl 74_37 -1 known missense c.799 p.F267V 1.000 superfamily_ConA-like_lec_gl_sf pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL2 HGNC ENSG00000184613 tier1 - - 34 0 0.00 45 8 15.09 NEU4 0 genome.wustl.edu 37 2 242755705 242755705 + Silent SNP A A G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 2 242755705 242755705 A G SNP NEU4 ENST00000325935 human ensembl 74_37 +1 known silent c.63 p.S21 0.111 superfamily_Sialidases superfamily_Sialidases - no_errors NEU4 HGNC ENSG00000204099 tier1 - - 35 0 0.00 47 4 7.84 NGRN 0 genome.wustl.edu 37 15 90814633 90814633 + Silent SNP C C A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 15 90814633 90814633 C A SNP NGRN ENST00000379095 human ensembl 74_37 +1 known silent c.489 p.L163 0.000 pfam_Neugrin-related pfam_Neugrin-related - no_errors NGRN HGNC ENSG00000182768 32 0 0.00 37 4 9.76 NOB1 0 genome.wustl.edu 37 16 69782978 69782980 + In_Frame_Del DEL TCC TCC - TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 16 69782978 69782980 TCC - DEL NOB1 ENST00000268802 human ensembl 74_37 -1 known in_frame_del c.569_567 p.E191in_frame_del 0.032:0.038:0.042 pirsf_D-site_20S_pre-rRNA_nuclease pfam_NOB1_Zn-bd,smart_PIN_dom,pirsf_D-site_20S_pre-rRNA_nuclease - no_errors NOB1 HGNC ENSG00000141101 tier1 21 0 0.00 22 4 15.38 NOMO3 0 genome.wustl.edu 37 16 16339001 16339001 + Missense_Mutation SNP T T A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 16 16339001 16339001 T A SNP NOMO3 ENST00000399336 human ensembl 74_37 +1 known missense c.479 p.I160N 0.976 superfamily_CarboxyPept-like_regulatory pfam_DUF2012,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,superfamily_Collagen-bd_Cna_B-typ_dom - no_errors NOMO3 HGNC ENSG00000103226 tier1 - - 21 0 0.00 6 2 25.00 NOX4 0 genome.wustl.edu 37 11 89133398 89133398 + Silent SNP T T C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 11 89133398 89133398 T C SNP NOX4 ENST00000413594 human ensembl 74_37 -1 known silent c.1059 p.K353 1.000 pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl pfam_Fe_red_NAD-bd_6,pfam_Fe3_Rdtase_TM_dom,pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX4 HGNC ENSG00000086991 tier1 - - 83 0 0.00 66 14 17.28 NPHS1 0 genome.wustl.edu 37 19 36322231 36322231 + Missense_Mutation SNP C C G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 19 36322231 36322231 C G SNP NPHS1 ENST00000378910 human ensembl 74_37 -1 known missense c.3354 p.Q1118H 0.993 NULL pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NPHS1 HGNC ENSG00000161270 tier1 - - 52 0 0.00 61 16 20.78 NRG1 0 genome.wustl.edu 37 8 32463089 32463089 + Missense_Mutation SNP A A C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 8 32463089 32463089 A C SNP NRG1 ENST00000338921 human ensembl 74_37 +1 known missense c.288 p.E96D 0.993 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin - no_errors NRG1 HGNC ENSG00000157168 tier1 - - 45 0 0.00 27 9 25.00 NTM 0 genome.wustl.edu 37 11 132206471 132206471 + RNA SNP T T A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 11 132206471 132206471 T A SNP NTM ENST00000474900 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors NTM HGNC ENSG00000182667 tier1 - - 25 0 0.00 39 16 29.09 NUP205 0 genome.wustl.edu 37 7 135300665 135300665 + Missense_Mutation SNP A A T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 7 135300665 135300665 A T SNP NUP205 ENST00000285968 human ensembl 74_37 +1 known missense c.3312 p.E1104D 0.950 pfam_Nup186/Nup192/Nup205 pfam_Nup186/Nup192/Nup205 - no_errors NUP205 HGNC ENSG00000155561 39 0 0.00 33 2 5.71 OAF 0 genome.wustl.edu 37 11 120099634 120099634 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 11 120099634 120099634 C T SNP OAF ENST00000328965 human ensembl 74_37 +1 known missense c.605 p.P202L 0.969 NULL NULL - no_errors OAF HGNC ENSG00000184232 53 0 0.00 52 4 7.14 OBSCN 0 genome.wustl.edu 37 1 228505712 228505712 + Missense_Mutation SNP C C A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 228505712 228505712 C A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.13969 p.H4657N 0.996 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 tier1 - - 77 0 0.00 38 30 43.48 OMG 0 genome.wustl.edu 37 17 29622574 29622574 + Nonsense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 17 29622574 29622574 G T SNP OMG ENST00000247271 human ensembl 74_37 -1 known nonsense c.776 p.S259* 1.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors OMG HGNC ENSG00000126861 tier1 - - 57 0 0.00 65 4 5.80 OPRK1 0 genome.wustl.edu 37 8 54141976 54141976 + Missense_Mutation SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 8 54141976 54141976 G A SNP OPRK1 ENST00000265572 human ensembl 74_37 -1 known missense c.1024 p.R342W 0.997 pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_Somatstn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Kappa_opi_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_Somatstn_rcpt,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors OPRK1 HGNC ENSG00000082556 20 0 0.00 31 2 6.06 OR10H2 0 genome.wustl.edu 37 19 15838920 15838920 + Missense_Mutation SNP C C G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 19 15838920 15838920 C G SNP OR10H2 ENST00000305899 human ensembl 74_37 +1 known missense c.67 p.L23V 0.001 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H2 HGNC ENSG00000171942 tier1 - - 98 0 0.00 77 35 31.25 OR10X1 0 genome.wustl.edu 37 1 158549657 158549657 + Missense_Mutation SNP T T G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 158549657 158549657 T G SNP OR10X1 ENST00000368150 human ensembl 74_37 -1 known missense c.33 p.Q11H 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10X1 HGNC ENSG00000186400 tier1 - - 21 0 0.00 17 5 22.73 OR10Z1 0 genome.wustl.edu 37 1 158576679 158576679 + Missense_Mutation SNP A A T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 158576679 158576679 A T SNP OR10Z1 ENST00000361284 human ensembl 74_37 +1 known missense c.451 p.T151S 0.002 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10Z1 HGNC ENSG00000198967 30 0 0.00 38 3 7.32 OR2H1 0 genome.wustl.edu 37 6 29430376 29430376 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 6 29430376 29430376 C T SNP OR2H1 ENST00000377132 human ensembl 74_37 +1 known missense c.830 p.A277V 0.293 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 OR2H1 HGNC ENSG00000204688 tier1 - - 29 0 0.00 37 4 9.76 OR2J1 0 genome.wustl.edu 37 6 29068816 29068816 + Missense_Mutation SNP T T A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 6 29068816 29068816 T A SNP OR2J1 ENST00000377171 human ensembl 74_37 +1 known missense c.97 p.L33M 0.986 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2J1 HGNC ENSG00000204702 tier1 - - 64 0 0.00 40 38 48.72 OR2L2 0 genome.wustl.edu 37 1 248201876 248201876 + Missense_Mutation SNP T T C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 248201876 248201876 T C SNP OR2L2 ENST00000366479 human ensembl 74_37 +1 known missense c.307 p.F103L 0.258 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L2 HGNC ENSG00000203663 tier1 - - 102 0 0.00 56 37 39.78 OR4A16 0 genome.wustl.edu 37 11 55110764 55110764 + Missense_Mutation SNP T T G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 11 55110764 55110764 T G SNP OR4A16 ENST00000314721 human ensembl 74_37 +1 known missense c.88 p.L30V 0.068 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A16 HGNC ENSG00000181961 tier1 - - 38 0 0.00 28 9 24.32 OR4C3 0 genome.wustl.edu 37 11 48346896 48346896 + Missense_Mutation SNP T T G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 11 48346896 48346896 T G SNP OR4C3 ENST00000319856 human ensembl 74_37 +1 known missense c.404 p.V135G 0.000 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 OR4C3 HGNC ENSG00000176547 tier1 - - 80 0 0.00 69 6 8.00 OR51F2 0 genome.wustl.edu 37 11 4842644 4842644 + Missense_Mutation SNP G G C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 11 4842644 4842644 G C SNP OR51F2 ENST00000322110 human ensembl 74_37 +1 known missense c.29 p.C10S 0.019 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51F2 HGNC ENSG00000176925 tier1 - - 38 0 0.00 48 13 21.31 OR52H1 0 genome.wustl.edu 37 11 5566396 5566396 + Missense_Mutation SNP A A G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 11 5566396 5566396 A G SNP OR52H1 ENST00000322653 human ensembl 74_37 -1 known missense c.358 p.S120P 0.997 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52H1 HGNC ENSG00000181616 tier1 - - 23 0 0.00 20 6 23.08 OR5M1 0 genome.wustl.edu 37 11 56380609 56380609 + Missense_Mutation SNP C C A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 11 56380609 56380609 C A SNP OR5M1 ENST00000526538 human ensembl 74_37 -1 known missense c.370 p.V124L 0.795 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M1 HGNC ENSG00000255012 45 0 0.00 28 2 6.67 OR8I2 0 genome.wustl.edu 37 11 55861094 55861094 + Missense_Mutation SNP T T C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 11 55861094 55861094 T C SNP OR8I2 ENST00000302124 human ensembl 74_37 +1 known missense c.311 p.F104S 0.094 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 OR8I2 HGNC ENSG00000172154 tier1 - - 27 0 0.00 35 8 18.60 ORAOV1 0 genome.wustl.edu 37 11 69472228 69472228 + RNA SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 11 69472228 69472228 G A SNP ORAOV1 ENST00000542515 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ORAOV1 HGNC ENSG00000149716 tier1 - - 40 0 0.00 55 4 6.78 OTOR 0 genome.wustl.edu 37 20 16730646 16730646 + Silent SNP T T C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 20 16730646 16730646 T C SNP OTOR ENST00000246081 human ensembl 74_37 +1 known silent c.354 p.V118 0.856 superfamily_SH3_domain pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain - no_errors OTOR HGNC ENSG00000125879 tier1 - - 43 0 0.00 39 18 31.58 PAH 0 genome.wustl.edu 37 12 103237424 103237424 + Missense_Mutation SNP C C G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 12 103237424 103237424 C G SNP PAH ENST00000553106 human ensembl 74_37 -1 known missense c.1199 p.R400T 1.000 pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Phe-4-hydroxylase_tetra pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Phe-4-hydroxylase_tetra - no_errors PAH HGNC ENSG00000171759 tier1 rs199475658 - 47 0 0.00 68 14 17.07 PANK2 0 genome.wustl.edu 37 20 3899433 3899433 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 20 3899433 3899433 C T SNP PANK2 ENST00000316562 human ensembl 74_37 +1 known missense c.1652 p.S551L 0.978 pfam_Type_II_PanK,tigrfam_Type_II_PanK pfam_Type_II_PanK,tigrfam_Type_II_PanK - no_errors PANK2 HGNC ENSG00000125779 56 0 0.00 56 5 8.20 PARS2 0 genome.wustl.edu 37 1 55224664 55224664 + Silent SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 55224664 55224664 G T SNP PARS2 ENST00000371279 human ensembl 74_37 -1 known silent c.171 p.L57 0.000 pfscan_aa-tRNA-synth_II pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,superfamily_Anticodon-bd,pfscan_aa-tRNA-synth_II,prints_Pro-tRNA-ligase_IIa - no_errors PARS2 HGNC ENSG00000162396 tier1 - - 35 0 0.00 49 4 7.55 PASD1 0 genome.wustl.edu 37 X 150791459 150791459 + Missense_Mutation SNP T T G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c X 150791459 150791459 T G SNP PASD1 ENST00000370357 human ensembl 74_37 +1 known missense c.469 p.F157V 0.000 NULL superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PASD1 HGNC ENSG00000166049 tier1 - - 27 0 0.00 25 14 35.90 PCDH17 0 genome.wustl.edu 37 13 58299065 58299065 + Silent SNP A A G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 13 58299065 58299065 A G SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known silent c.3117 p.P1039 0.580 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 tier1 - - 24 0 0.00 16 8 33.33 PCDHA11 0 genome.wustl.edu 37 5 140250534 140250534 + Missense_Mutation SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 5 140250534 140250534 G A SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known missense c.1846 p.G616S 0.000 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 - - 119 0 0.00 133 25 15.82 PCDHB7 0 genome.wustl.edu 37 5 140553230 140553230 + Missense_Mutation SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 5 140553230 140553230 G A SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known missense c.814 p.G272R 0.997 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 36 0 0.00 38 7 15.56 PCID2 0 genome.wustl.edu 37 13 113839842 113839842 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 13 113839842 113839842 C T SNP PCID2 ENST00000246505 human ensembl 74_37 -1 known missense c.662 p.G221D 0.999 smart_PAM pfam_PCI_dom,smart_PAM - no_errors PCID2 HGNC ENSG00000126226 tier1 - - 63 0 0.00 50 4 7.41 PCNT 0 genome.wustl.edu 37 21 47819540 47819540 + Missense_Mutation SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 21 47819540 47819540 G A SNP PCNT ENST00000359568 human ensembl 74_37 +1 known missense c.4621 p.D1541N 0.995 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 tier1 - - 54 0 0.00 32 22 40.74 PDE4B 0 genome.wustl.edu 37 1 66384385 66384385 + Silent SNP T T C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 66384385 66384385 T C SNP PDE4B ENST00000329654 human ensembl 74_37 +1 known silent c.148 p.L50 0.997 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4B HGNC ENSG00000184588 tier1 - - 36 0 0.00 34 4 10.53 PDE4B 0 genome.wustl.edu 37 1 66798111 66798111 + Silent SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 66798111 66798111 C T SNP PDE4B ENST00000371045 human ensembl 74_37 +1 known silent c.39 p.I13 0.426 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4B HGNC ENSG00000184588 tier1 - - 26 0 0.00 14 6 30.00 PDIA6 0 genome.wustl.edu 37 2 10942647 10942647 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 2 10942647 10942647 G T SNP PDIA6 ENST00000381611 human ensembl 74_37 -1 known missense c.154 p.L52I 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase - no_errors PDIA6 HGNC ENSG00000143870 tier1 - - 67 0 0.00 76 4 5.00 PDZD4 0 genome.wustl.edu 37 X 153073805 153073805 + Silent SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c X 153073805 153073805 G T SNP PDZD4 ENST00000393758 human ensembl 74_37 -1 known silent c.63 p.L21 0.471 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD4 HGNC ENSG00000067840 tier1 - - 29 0 0.00 17 22 56.41 PDZD7 0 genome.wustl.edu 37 10 102778884 102778884 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 10 102778884 102778884 C T SNP PDZD7 ENST00000370215 human ensembl 74_37 -1 known missense c.1019 p.G340D 0.978 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD7 HGNC ENSG00000186862 18 0 0.00 19 4 17.39 PELI2 0 genome.wustl.edu 37 14 56763841 56763841 + Missense_Mutation SNP A A G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 14 56763841 56763841 A G SNP PELI2 ENST00000267460 human ensembl 74_37 +1 known missense c.1220 p.E407G 0.995 pfam_Pellino_fam pfam_Pellino_fam - no_errors PELI2 HGNC ENSG00000139946 tier1 - - 39 0 0.00 53 4 7.02 PELI3 0 genome.wustl.edu 37 11 66241227 66241227 + Missense_Mutation SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 11 66241227 66241227 G A SNP PELI3 ENST00000320740 human ensembl 74_37 +1 known missense c.671 p.R224Q 1.000 pfam_Pellino_fam pfam_Pellino_fam - no_errors PELI3 HGNC ENSG00000174516 tier1 - - 75 0 0.00 82 15 15.31 PFKP 0 genome.wustl.edu 37 10 3154472 3154472 + Missense_Mutation SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 10 3154472 3154472 G A SNP PFKP ENST00000381125 human ensembl 74_37 +1 known missense c.1148 p.R383Q 1.000 superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKP HGNC ENSG00000067057 51 0 0.00 54 4 6.90 PIH1D1 0 genome.wustl.edu 37 19 49952776 49952776 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 19 49952776 49952776 C T SNP PIH1D1 ENST00000262265 human ensembl 74_37 -1 known missense c.293 p.R98H 1.000 pfam_PIH pfam_PIH - no_errors PIH1D1 HGNC ENSG00000104872 tier1 - - 44 0 0.00 54 4 6.90 PIK3C2B 0 genome.wustl.edu 37 1 204426964 204426964 + Silent SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 204426964 204426964 G T SNP PIK3C2B ENST00000367187 human ensembl 74_37 -1 known silent c.1605 p.S535 0.056 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2B HGNC ENSG00000133056 tier1 - - 39 0 0.00 26 16 38.10 PLCXD1 0 genome.wustl.edu 37 X 205431 205431 + Silent SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c X 205431 205431 C T SNP PLCXD1 ENST00000381657 human ensembl 74_37 +1 known silent c.159 p.N53 0.998 superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom - no_errors PLCXD1 HGNC ENSG00000182378 tier1 - - 53 0 0.00 47 26 35.62 PLXNA4 0 genome.wustl.edu 37 7 131853090 131853090 + Missense_Mutation SNP T T C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 7 131853090 131853090 T C SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.4259 p.K1420R 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 tier1 - - 27 0 0.00 15 10 40.00 PMM1 0 genome.wustl.edu 37 22 41973338 41973338 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 22 41973338 41973338 G T SNP PMM1 ENST00000216259 human ensembl 74_37 -1 known missense c.773 p.T258K 0.998 NULL pfam_PMM,pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIB - no_errors PMM1 HGNC ENSG00000100417 tier1 - - 46 0 0.00 38 4 9.52 PNLIPRP3 0 genome.wustl.edu 37 10 118236283 118236283 + Missense_Mutation SNP A A C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 10 118236283 118236283 A C SNP PNLIPRP3 ENST00000369230 human ensembl 74_37 +1 known missense c.1292 p.K431T 0.620 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc - no_errors PNLIPRP3 HGNC ENSG00000203837 tier1 - - 68 0 0.00 48 21 30.43 POTED 0 genome.wustl.edu 37 21 14982728 14982728 + Missense_Mutation SNP A A C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 21 14982728 14982728 A C SNP POTED ENST00000299443 human ensembl 74_37 +1 known missense c.179 p.K60T 0.036 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTED HGNC ENSG00000166351 tier1 - - 43 0 0.00 17 15 46.88 PP2D1 0 genome.wustl.edu 37 3 20043253 20043253 + Missense_Mutation SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 3 20043253 20043253 G A SNP PP2D1 ENST00000389050 human ensembl 74_37 -1 known missense c.359 p.S120F 0.000 NULL pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PP2D1 HGNC ENSG00000183977 tier1 - - 39 0 0.00 31 4 11.43 PPHLN1 0 genome.wustl.edu 37 12 42729775 42729775 + Frame_Shift_Del DEL G G - TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 12 42729775 42729775 G - DEL PPHLN1 ENST00000395568 human ensembl 74_37 +1 known frame_shift_del c.71 p.S24fs 0.947 NULL NULL - no_errors PPHLN1 HGNC ENSG00000134283 tier1 42 0 0.00 33 10 23.26 PPIE 0 genome.wustl.edu 37 1 40214724 40214724 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 40214724 40214724 G T SNP PPIE ENST00000324379 human ensembl 74_37 +1 known missense c.658 p.D220Y 1.000 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pirsf_Cyclophilin-type_PPIase_E,pfscan_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,pfam_RRM_dom,superfamily_Cyclophilin-like_PPIase_dom,smart_RRM_dom,pirsf_Cyclophilin-type_PPIase_E,pfscan_RRM_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIE HGNC ENSG00000084072 50 0 0.00 50 3 5.66 PREX2 0 genome.wustl.edu 37 8 69104018 69104018 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 8 69104018 69104018 G T SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.4408 p.D1470Y 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 tier1 - - 53 0 0.00 40 4 8.89 PRIM2 0 genome.wustl.edu 37 6 57467108 57467108 + RNA SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 6 57467108 57467108 G A SNP PRIM2 ENST00000389488 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors PRIM2 HGNC ENSG00000146143 tier1 rs201913517 - 116 0 0.00 117 20 14.60 PRIM2 0 genome.wustl.edu 37 6 57512519 57512519 + RNA SNP T T C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 6 57512519 57512519 T C SNP PRIM2 ENST00000389488 human ensembl 74_37 +1 known rna NULL NULL 0.086 - - - no_errors PRIM2 HGNC ENSG00000146143 tier1 - - 82 0 0.00 88 8 8.33 PRKCQ 0 genome.wustl.edu 37 10 6557012 6557012 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 10 6557012 6557012 C T SNP PRKCQ ENST00000263125 human ensembl 74_37 -1 known missense c.86 p.C29Y 1.000 superfamily_C2_dom,pirsf_Prot_kin_PKC_delta pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKCQ HGNC ENSG00000065675 tier1 - - 51 0 0.00 50 11 18.03 PRMT10 0 genome.wustl.edu 37 4 148594174 148594174 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 4 148594174 148594174 C T SNP PRMT10 ENST00000322396 human ensembl 74_37 -1 known missense c.679 p.A227T 0.089 pfam_Ribosomal-L11_MeTrfase_PrmA pfam_Ribosomal-L11_MeTrfase_PrmA,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRMT10 HGNC ENSG00000164169 67 0 0.00 71 4 5.33 PSMB3 0 genome.wustl.edu 37 17 36916828 36916828 + Silent SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 17 36916828 36916828 C T SNP PSMB3 ENST00000225426 human ensembl 74_37 +1 known silent c.441 p.Y147 0.996 pfam_Proteasome_sua/b pfam_Proteasome_sua/b - no_errors PSMB3 HGNC ENSG00000108294 30 0 0.00 32 2 5.88 PSMC5 0 genome.wustl.edu 37 17 61905527 61905527 + Silent SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 17 61905527 61905527 C T SNP PSMC5 ENST00000310144 human ensembl 74_37 +1 known silent c.54 p.S18 0.998 NULL pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC5 HGNC ENSG00000087191 tier1 - - 36 0 0.00 48 5 9.43 PTBP2 0 genome.wustl.edu 37 1 97270350 97270350 + Missense_Mutation SNP T T C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 97270350 97270350 T C SNP PTBP2 ENST00000394184 human ensembl 74_37 +1 known missense c.947 p.V316A 1.000 tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP2 HGNC ENSG00000117569 tier1 - - 58 0 0.00 48 6 11.11 PTBP3 0 genome.wustl.edu 37 9 114986446 114986446 + Missense_Mutation SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 9 114986446 114986446 G A SNP PTBP3 ENST00000458258 human ensembl 74_37 -1 known missense c.1511 p.A504V 0.997 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP3 HGNC ENSG00000119314 62 0 0.00 59 4 6.35 PTCHD2 0 genome.wustl.edu 37 1 11585247 11585247 + Missense_Mutation SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 11585247 11585247 G A SNP PTCHD2 ENST00000294484 human ensembl 74_37 +1 known missense c.2491 p.V831M 0.994 NULL pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 39 0 0.00 39 3 7.14 PTPN3 0 genome.wustl.edu 37 9 112182864 112182864 + Missense_Mutation SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 9 112182864 112182864 G A SNP PTPN3 ENST00000374541 human ensembl 74_37 -1 known missense c.1153 p.R385W 1.000 pirsf_Tyr_Pase_non-rcpt_typ-3/4 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_PDZ,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN3 HGNC ENSG00000070159 22 0 0.00 34 2 5.41 PTPRD 0 genome.wustl.edu 37 9 8528579 8528579 + Splice_Site SNP A A C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 9 8528579 8528579 A C SNP PTPRD ENST00000537002 human ensembl 74_37 -1 known splice_site c.551+2 e4+2 1.000 - - - no_errors PTPRD HGNC ENSG00000153707 tier1 - - 62 0 0.00 48 14 22.58 PTPRD 0 genome.wustl.edu 37 9 8528696 8528696 + Missense_Mutation SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 9 8528696 8528696 G A SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.436 p.L146F 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 tier1 - - 56 0 0.00 54 4 6.90 PWP1 0 genome.wustl.edu 37 12 108096757 108096757 + Missense_Mutation SNP G G C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 12 108096757 108096757 G C SNP PWP1 ENST00000412830 human ensembl 74_37 +1 known missense c.852 p.W284C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PWP1 HGNC ENSG00000136045 tier1 - - 23 0 0.00 30 8 21.05 RAB13 0 genome.wustl.edu 37 1 153955601 153955602 + RNA INS - - A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 153955601 153955602 - A INS RAB13 ENST00000462680 human ensembl 74_37 -1 known rna NULL NULL 0.027:0.029 - - - no_errors RAB13 HGNC ENSG00000143545 tier1 16 0 0.00 22 4 15.38 RAB3GAP1 0 genome.wustl.edu 37 2 135920378 135920378 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 2 135920378 135920378 G T SNP RAB3GAP1 ENST00000264158 human ensembl 74_37 +1 known missense c.2447 p.S816I 1.000 NULL NULL - no_errors RAB3GAP1 HGNC ENSG00000115839 41 0 0.00 36 2 5.26 RABEPK 0 genome.wustl.edu 37 9 127982852 127982852 + Silent SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 9 127982852 127982852 C T SNP RABEPK ENST00000373538 human ensembl 74_37 +1 known silent c.399 p.S133 0.005 NULL pfam_Kelch_2,pfam_Kelch_1 - no_errors RABEPK HGNC ENSG00000136933 tier1 - - 54 0 0.00 72 4 5.26 RAD51 0 genome.wustl.edu 37 15 41023356 41023356 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 15 41023356 41023356 G T SNP RAD51 ENST00000382643 human ensembl 74_37 +1 known missense c.1003 p.V335L 1.000 pfam_DNA_recomb/repair_Rad51_C,superfamily_P-loop_NTPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_RecA_monomer-monomer_interface,tigrfam_DNA_recomb/repair_Rad51 pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,pfscan_RecA_monomer-monomer_interface,tigrfam_DNA_recomb/repair_Rad51 - no_errors RAD51 HGNC ENSG00000051180 59 0 0.00 69 4 5.41 RAPGEF5 0 genome.wustl.edu 37 7 22194211 22194211 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 7 22194211 22194211 C T SNP RAPGEF5 ENST00000344041 human ensembl 74_37 -1 known missense c.1189 p.V397M 1.000 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF5 HGNC ENSG00000136237 tier1 rs201437488 - 36 0 0.00 45 4 8.16 RASL12 0 genome.wustl.edu 37 15 65347312 65347312 + Silent SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 15 65347312 65347312 G A SNP RASL12 ENST00000220062 human ensembl 74_37 -1 known silent c.726 p.T242 0.011 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RASL12 HGNC ENSG00000103710 tier1 rs143172698 - 35 0 0.00 36 27 42.86 RASSF9 0 genome.wustl.edu 37 12 86199481 86199481 + Missense_Mutation SNP A A T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 12 86199481 86199481 A T SNP RASSF9 ENST00000361228 human ensembl 74_37 -1 known missense c.307 p.W103R 0.999 smart_Ras-assoc,pfscan_Ras-assoc smart_Ras-assoc,pfscan_Ras-assoc - no_errors RASSF9 HGNC ENSG00000198774 24 0 0.00 34 4 10.53 RBM12B 0 genome.wustl.edu 37 8 94746364 94746364 + Missense_Mutation SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 8 94746364 94746364 G A SNP RBM12B ENST00000399300 human ensembl 74_37 -1 known missense c.2275 p.P759S 0.007 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12B HGNC ENSG00000183808 tier1 - - 21 0 0.00 21 5 19.23 RBM19 0 genome.wustl.edu 37 12 114296648 114296648 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 12 114296648 114296648 C T SNP RBM19 ENST00000261741 human ensembl 74_37 -1 known missense c.2612 p.G871D 0.999 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors RBM19 HGNC ENSG00000122965 tier1 - - 64 0 0.00 67 4 5.56 RBM27 0 genome.wustl.edu 37 5 145613276 145613276 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 5 145613276 145613276 C T SNP RBM27 ENST00000265271 human ensembl 74_37 +1 known missense c.1114 p.P372S 1.000 NULL pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC ENSG00000091009 tier1 - - 51 0 0.00 73 4 5.19 RBM3 0 genome.wustl.edu 37 X 48433709 48433709 + RNA SNP G G C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c X 48433709 48433709 G C SNP RBM3 ENST00000491240 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RBM3 HGNC ENSG00000102317 tier1 - - 22 0 0.00 14 11 44.00 RBPMS2 0 genome.wustl.edu 37 15 65040632 65040632 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 15 65040632 65040632 C T SNP RBPMS2 ENST00000300069 human ensembl 74_37 -1 known missense c.553 p.A185T 0.661 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBPMS2 HGNC ENSG00000166831 52 0 0.00 76 4 5.00 REL 0 genome.wustl.edu 37 2 61144029 61144029 + Missense_Mutation SNP A A G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 2 61144029 61144029 A G SNP REL ENST00000295025 human ensembl 74_37 +1 known missense c.412 p.N138D 1.000 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor - no_errors REL HGNC ENSG00000162924 45 0 0.00 55 3 5.17 RHOA 0 genome.wustl.edu 37 3 49405962 49405962 + Missense_Mutation SNP T T C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 3 49405962 49405962 T C SNP RHOA ENST00000418115 human ensembl 74_37 -1 known missense c.176 p.D59G 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOA HGNC ENSG00000067560 tier1 - - 39 0 0.00 36 5 12.20 RIMS2 0 genome.wustl.edu 37 8 104898169 104898169 + Silent SNP T T C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 8 104898169 104898169 T C SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known silent c.1342 p.L448 0.117 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 tier1 - - 30 0 0.00 23 8 25.81 RLF 0 genome.wustl.edu 37 1 40704105 40704105 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 40704105 40704105 G T SNP RLF ENST00000372771 human ensembl 74_37 +1 known missense c.3731 p.C1244F 0.018 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RLF HGNC ENSG00000117000 20 0 0.00 36 4 10.00 RPTOR 0 genome.wustl.edu 37 17 78865547 78865547 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 17 78865547 78865547 G T SNP RPTOR ENST00000306801 human ensembl 74_37 +1 known missense c.2011 p.V671L 0.994 superfamily_ARM-type_fold pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor - no_errors RPTOR HGNC ENSG00000141564 tier1 - - 22 0 0.00 60 15 20.00 RRN3P2 0 genome.wustl.edu 37 16 29124405 29124405 + RNA SNP C C G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 16 29124405 29124405 C G SNP RRN3P2 ENST00000427965 human ensembl 74_37 +1 known rna NULL NULL 0.977 - - - no_errors RRN3P2 HGNC ENSG00000103472 tier1 - - 75 0 0.00 80 15 15.79 RYR2 0 genome.wustl.edu 37 1 237777544 237777544 + Silent SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 237777544 237777544 C T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known silent c.5110 p.L1704 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 53 0 0.00 59 4 6.35 SDK1 0 genome.wustl.edu 37 7 3681696 3681696 + Silent SNP T T G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 7 3681696 3681696 T G SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known silent c.672 p.T224 0.324 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 tier1 - - 30 0 0.00 34 7 17.07 SELP 0 genome.wustl.edu 37 1 169588459 169588459 + Splice_Site SNP T T C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 169588459 169588459 T C SNP SELP ENST00000263686 human ensembl 74_37 -1 known splice_site c.4-2 e2-2 1.000 - - - no_errors SELP HGNC ENSG00000174175 38 0 0.00 32 4 11.11 SIDT1 0 genome.wustl.edu 37 3 113303617 113303617 + Splice_Site SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 3 113303617 113303617 G T SNP SIDT1 ENST00000393830 human ensembl 74_37 +1 known splice_site c.907+1 e8+1 1.000 - - - no_errors SIDT1 HGNC ENSG00000072858 tier1 - - 32 0 0.00 52 4 7.14 SIN3B 0 genome.wustl.edu 37 19 16982133 16982133 + Missense_Mutation SNP C C G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 19 16982133 16982133 C G SNP SIN3B ENST00000379803 human ensembl 74_37 +1 known missense c.2612 p.T871S 1.000 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3B HGNC ENSG00000127511 tier1 - - 23 0 0.00 28 10 26.32 SIRPG 0 genome.wustl.edu 37 20 1629814 1629814 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 20 1629814 1629814 C T SNP SIRPG ENST00000303415 human ensembl 74_37 -1 known missense c.314 p.R105H 0.969 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors SIRPG HGNC ENSG00000089012 tier1 rs200001337 - 144 0 0.00 112 34 23.29 SLAMF9 0 genome.wustl.edu 37 1 159922241 159922241 + Nonsense_Mutation SNP C C A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 159922241 159922241 C A SNP SLAMF9 ENST00000368093 human ensembl 74_37 -1 known nonsense c.475 p.E159* 0.017 pfscan_Ig-like_dom pfam_Ig_V-set,pfscan_Ig-like_dom - no_errors SLAMF9 HGNC ENSG00000162723 16 0 0.00 26 4 13.33 SLC10A6 0 genome.wustl.edu 37 4 87754468 87754468 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 4 87754468 87754468 G T SNP SLC10A6 ENST00000273905 human ensembl 74_37 -1 known missense c.487 p.Q163K 0.957 pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A6 HGNC ENSG00000145283 tier1 - - 39 0 0.00 40 4 8.89 SLC22A6 0 genome.wustl.edu 37 11 62752130 62752130 + Silent SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 11 62752130 62752130 C T SNP SLC22A6 ENST00000377871 human ensembl 74_37 -1 known silent c.33 p.G11 1.000 NULL pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A6 HGNC ENSG00000197901 tier1 - - 85 0 0.00 56 17 23.29 SLC25A3P1 0 genome.wustl.edu 37 1 53905547 53905547 + RNA SNP A A G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 53905547 53905547 A G SNP SLC25A3P1 ENST00000563752 human ensembl 74_37 -1 known rna NULL NULL 0.993 - - - no_errors SLC25A3P1 HGNC ENSG00000236253 tier1 - - 26 0 0.00 27 6 18.18 SLC37A2 0 genome.wustl.edu 37 11 124954182 124954182 + Silent SNP T T A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 11 124954182 124954182 T A SNP SLC37A2 ENST00000308074 human ensembl 74_37 +1 known silent c.1092 p.T364 0.897 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC37A2 HGNC ENSG00000134955 tier1 - - 36 0 0.00 39 9 18.75 SLC5A5 0 genome.wustl.edu 37 19 17985311 17985311 + Silent SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 19 17985311 17985311 C T SNP SLC5A5 ENST00000222248 human ensembl 74_37 +1 known silent c.432 p.Y144 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A5 HGNC ENSG00000105641 46 0 0.00 51 4 7.27 SLC5A8 0 genome.wustl.edu 37 12 101560435 101560435 + Missense_Mutation SNP A A G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 12 101560435 101560435 A G SNP SLC5A8 ENST00000536262 human ensembl 74_37 -1 known missense c.1363 p.W455R 1.000 pfscan_Na/solute_symporter pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A8 HGNC ENSG00000256870 tier1 - - 43 0 0.00 33 4 10.81 SLC6A3 0 genome.wustl.edu 37 5 1432626 1432626 + Silent SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 5 1432626 1432626 C T SNP SLC6A3 ENST00000270349 human ensembl 74_37 -1 known silent c.606 p.S202 0.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine - no_errors SLC6A3 HGNC ENSG00000142319 tier1 - - 49 0 0.00 30 11 26.83 SLIT2 0 genome.wustl.edu 37 4 20618698 20618698 + Missense_Mutation SNP A A G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 4 20618698 20618698 A G SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known missense c.4013 p.K1338R 1.000 smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 tier1 - - 32 0 0.00 32 5 13.51 SMARCC1 0 genome.wustl.edu 37 3 47747971 47747971 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 3 47747971 47747971 C T SNP SMARCC1 ENST00000254480 human ensembl 74_37 -1 known missense c.968 p.R323Q 0.144 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC1 HGNC ENSG00000173473 tier1 - - 70 0 0.00 61 7 10.29 SMARCC2 0 genome.wustl.edu 37 12 56558198 56558198 + Missense_Mutation SNP T T C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 12 56558198 56558198 T C SNP SMARCC2 ENST00000267064 human ensembl 74_37 -1 known missense c.3457 p.M1153V 1.000 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 tier1 - - 62 0 0.00 63 24 27.59 SNX9 0 genome.wustl.edu 37 6 158348167 158348167 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 6 158348167 158348167 G T SNP SNX9 ENST00000392185 human ensembl 74_37 +1 known missense c.1105 p.A369S 1.000 pfam_Sorting_nexin_WASP-bd-dom,pirsf_Snx9 pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain - no_errors SNX9 HGNC ENSG00000130340 39 0 0.00 40 4 9.09 SP110 0 genome.wustl.edu 37 2 231048323 231048323 + Nonsense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 2 231048323 231048323 G T SNP SP110 ENST00000258381 human ensembl 74_37 -1 known nonsense c.1313 p.S438* 0.000 NULL pfam_Sp100,pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP110 HGNC ENSG00000135899 58 0 0.00 56 4 6.67 SPATA7 0 genome.wustl.edu 37 14 88892755 88892755 + Missense_Mutation SNP T T A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 14 88892755 88892755 T A SNP SPATA7 ENST00000393545 human ensembl 74_37 +1 known missense c.552 p.D184E 0.000 NULL NULL - no_errors SPATA7 HGNC ENSG00000042317 33 0 0.00 26 3 10.34 SPTA1 0 genome.wustl.edu 37 1 158584081 158584081 + Silent SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 158584081 158584081 C T SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known silent c.6804 p.V2268 1.000 NULL pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 tier1 - - 50 0 0.00 71 16 18.18 SSR2 0 genome.wustl.edu 37 1 155979398 155979398 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 155979398 155979398 C T SNP SSR2 ENST00000295702 human ensembl 74_37 -1 known missense c.485 p.G162D 1.000 pfam_TRAP_beta,pirsf_TRAP_beta pfam_TRAP_beta,pirsf_TRAP_beta - no_errors SSR2 HGNC ENSG00000163479 39 0 0.00 57 3 5.00 SSX2IP 0 genome.wustl.edu 37 1 85136350 85136350 + Missense_Mutation SNP C C G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 85136350 85136350 C G SNP SSX2IP ENST00000342203 human ensembl 74_37 -1 known missense c.192 p.Q64H 0.994 pfam_Afadin/alpha-actinin-bd pfam_Afadin/alpha-actinin-bd - no_errors SSX2IP HGNC ENSG00000117155 20 0 0.00 19 2 9.52 STAMBPL1 0 genome.wustl.edu 37 10 90682145 90682146 + Frame_Shift_Ins INS - - A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 10 90682145 90682146 - A INS STAMBPL1 ENST00000371927 human ensembl 74_37 +1 known frame_shift_ins c.1206_1207 p.G406fs 1.000:1.000 NULL pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors STAMBPL1 HGNC ENSG00000138134 tier1 47 0 0.00 44 9 16.98 STARD8 0 genome.wustl.edu 37 X 67937516 67937516 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c X 67937516 67937516 G T SNP STARD8 ENST00000374599 human ensembl 74_37 +1 known missense c.760 p.A254S 0.016 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD8 HGNC ENSG00000130052 tier1 - - 22 0 0.00 15 4 21.05 STK25 0 genome.wustl.edu 37 2 242437665 242437665 + Silent SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 2 242437665 242437665 C T SNP STK25 ENST00000316586 human ensembl 74_37 -1 known silent c.1017 p.L339 0.993 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors STK25 HGNC ENSG00000115694 63 0 0.00 76 4 5.00 SULT1C2 0 genome.wustl.edu 37 2 108921051 108921051 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 2 108921051 108921051 G T SNP SULT1C2 ENST00000326853 human ensembl 74_37 +1 known missense c.430 p.A144S 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1C2 HGNC ENSG00000198203 37 0 0.00 52 3 5.45 TAF1L 0 genome.wustl.edu 37 9 32635065 32635065 + Missense_Mutation SNP T T G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 9 32635065 32635065 T G SNP TAF1L ENST00000242310 human ensembl 74_37 -1 known missense c.513 p.Q171H 0.684 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 tier1 - - 95 0 0.00 105 27 20.45 TAS1R3 0 genome.wustl.edu 37 1 1268413 1268413 + Missense_Mutation SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 1268413 1268413 G A SNP TAS1R3 ENST00000339381 human ensembl 74_37 +1 known missense c.1388 p.G463D 0.000 superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R3 HGNC ENSG00000169962 24 0 0.00 38 4 9.52 TBC1D17 0 genome.wustl.edu 37 19 50385558 50385558 + Missense_Mutation SNP C C G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 19 50385558 50385558 C G SNP TBC1D17 ENST00000221543 human ensembl 74_37 +1 known missense c.699 p.F233L 1.000 NULL pfam_DUF3548,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D17 HGNC ENSG00000104946 tier1 - - 50 0 0.00 102 10 8.93 TBC1D26 0 genome.wustl.edu 37 17 15644474 15644474 + Silent SNP C C A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 17 15644474 15644474 C A SNP TBC1D26 ENST00000437605 human ensembl 74_37 +1 known silent c.585 p.A195 0.049 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D26 HGNC ENSG00000214946 tier1 - - 55 0 0.00 40 8 16.67 TBC1D9 0 genome.wustl.edu 37 4 141560556 141560556 + Missense_Mutation SNP C C G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 4 141560556 141560556 C G SNP TBC1D9 ENST00000442267 human ensembl 74_37 -1 known missense c.2364 p.L788F 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9 HGNC ENSG00000109436 tier1 - - 48 0 0.00 32 19 37.25 TBX3 0 genome.wustl.edu 37 12 115118902 115118902 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 12 115118902 115118902 C T SNP TBX3 ENST00000257566 human ensembl 74_37 -1 known missense c.439 p.A147T 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box 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 34 0 0.00 29 3 9.38 TBX6 0 genome.wustl.edu 37 16 30100109 30100109 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 16 30100109 30100109 C T SNP TBX6 ENST00000279386 human ensembl 74_37 -1 known missense c.673 p.A225T 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_Brachyury pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury - no_errors TBX6 HGNC ENSG00000149922 43 0 0.00 39 4 9.30 TEKT3 0 genome.wustl.edu 37 17 15222427 15222427 + Missense_Mutation SNP T T A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 17 15222427 15222427 T A SNP TEKT3 ENST00000338696 human ensembl 74_37 -1 known missense c.701 p.K234M 1.000 pfam_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT3 HGNC ENSG00000125409 39 0 0.00 31 2 6.06 TELO2 0 genome.wustl.edu 37 16 1550701 1550701 + Splice_Site SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 16 1550701 1550701 G T SNP TELO2 ENST00000262319 human ensembl 74_37 +1 known splice_site c.1281+1 e8+1 1.000 - - - no_errors TELO2 HGNC ENSG00000100726 tier1 - - 13 0 0.00 13 4 23.53 TENM3 0 genome.wustl.edu 37 4 183267985 183267985 + Silent SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 4 183267985 183267985 G T SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known silent c.414 p.G138 1.000 pfam_Ten_N pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 tier1 - - 43 0 0.00 38 8 17.02 TENM3 0 genome.wustl.edu 37 4 183594180 183594180 + Missense_Mutation SNP A A C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 4 183594180 183594180 A C SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.1134 p.Q378H 0.997 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 tier1 - - 39 0 0.00 34 24 41.38 TET3 0 genome.wustl.edu 37 2 74274419 74274419 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 2 74274419 74274419 C T SNP TET3 ENST00000409262 human ensembl 74_37 +1 known missense c.970 p.P324S 1.000 NULL NULL - no_errors TET3 HGNC ENSG00000187605 tier1 - - 49 0 0.00 26 34 56.67 TEX13A 0 genome.wustl.edu 37 X 104464871 104464871 + Missense_Mutation SNP T T C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c X 104464871 104464871 T C SNP TEX13A ENST00000413579 human ensembl 74_37 -1 known missense c.211 p.S71G 0.147 NULL pfam_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors TEX13A HGNC ENSG00000133149 tier1 - - 17 0 0.00 8 9 52.94 TFR2 0 genome.wustl.edu 37 7 100224466 100224466 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 7 100224466 100224466 C T SNP TFR2 ENST00000223051 human ensembl 74_37 -1 known missense c.2056 p.E686K 0.716 pfam_TFR-like_dimer_dom,superfamily_TFR-like_dimer_dom pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors TFR2 HGNC ENSG00000106327 tier1 - - 54 0 0.00 40 43 51.81 TG 0 genome.wustl.edu 37 8 134042123 134042123 + Frame_Shift_Del DEL G G - TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 8 134042123 134042123 G 0 DEL TG ENST00000220616 human ensembl 74_37 +1 known frame_shift_del c.7094 p.V2366fs 1.000 pfam_CarbesteraseB,pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 57 0 0.00 100 8 7.41 TIAM1 0 genome.wustl.edu 37 21 32585673 32585673 + RNA SNP T T C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 21 32585673 32585673 T C SNP TIAM1 ENST00000469412 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TIAM1 HGNC ENSG00000156299 tier1 - - 23 0 0.00 22 11 33.33 TLE1 0 genome.wustl.edu 37 9 84230981 84230981 + Silent SNP C C A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 9 84230981 84230981 C A SNP TLE1 ENST00000376499 human ensembl 74_37 -1 known silent c.834 p.L278 0.935 NULL pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE1 HGNC ENSG00000196781 40 0 0.00 47 4 7.84 TLN2 0 genome.wustl.edu 37 15 63004277 63004277 + Splice_Site SNP G G C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 15 63004277 63004277 G C SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known splice_site c.2634+1 e19+1 1.000 - - - no_errors TLN2 HGNC ENSG00000171914 tier1 - - 31 0 0.00 35 15 30.00 TMC7 0 genome.wustl.edu 37 16 19041668 19041668 + Silent SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 16 19041668 19041668 G T SNP TMC7 ENST00000304381 human ensembl 74_37 +1 known silent c.834 p.L278 1.000 NULL pfam_TMC - no_errors TMC7 HGNC ENSG00000170537 26 0 0.00 36 2 5.26 TMCO4 0 genome.wustl.edu 37 1 20021004 20021004 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 20021004 20021004 C T SNP TMCO4 ENST00000294543 human ensembl 74_37 -1 known missense c.1423 p.V475M 0.685 pfam_DUF726,pfam_DUF900_hydrolase pfam_DUF726,pfam_DUF900_hydrolase - no_errors TMCO4 HGNC ENSG00000162542 41 0 0.00 57 4 6.56 TMCO4 0 genome.wustl.edu 37 1 20067393 20067393 + Nonsense_Mutation SNP C C A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 20067393 20067393 C A SNP TMCO4 ENST00000294543 human ensembl 74_37 -1 known nonsense c.919 p.E307* 0.999 pfam_DUF726 pfam_DUF726,pfam_DUF900_hydrolase - no_errors TMCO4 HGNC ENSG00000162542 35 0 0.00 30 2 6.25 TMEM132C 0 genome.wustl.edu 37 12 129190790 129190790 + Missense_Mutation SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 12 129190790 129190790 G A SNP TMEM132C ENST00000435159 human ensembl 74_37 +1 known missense c.3277 p.A1093T 1.000 NULL NULL - no_errors TMEM132C HGNC ENSG00000181234 tier1 - - 45 0 0.00 43 4 8.51 TMEM196 0 genome.wustl.edu 37 7 19763924 19763924 + Frame_Shift_Del DEL G G - TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 7 19763924 19763924 G - DEL TMEM196 ENST00000422233 human ensembl 74_37 -1 putative frame_shift_del c.308 p.P103fs 1.000 NULL NULL - no_errors TMEM196 HGNC ENSG00000173452 tier1 42 0 0.00 38 2 5.00 TMSB15A 0 genome.wustl.edu 37 X 101770005 101770005 + Silent SNP A A C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c X 101770005 101770005 A C SNP TMSB15A ENST00000289373 human ensembl 74_37 -1 known silent c.87 p.L29 0.041 pfam_Thymosin_b4,smart_Thymosin_b4,pirsf_Thymosin_b4_metazoa pfam_Thymosin_b4,smart_Thymosin_b4,pirsf_Thymosin_b4_metazoa - no_errors TMSB15A HGNC ENSG00000158164 tier1 - - 24 0 0.00 24 13 35.14 TNIP3 0 genome.wustl.edu 37 4 122068273 122068273 + Missense_Mutation SNP A A T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 4 122068273 122068273 A T SNP TNIP3 ENST00000057513 human ensembl 74_37 -1 known missense c.666 p.N222K 0.998 NULL NULL - no_errors TNIP3 HGNC ENSG00000050730 tier1 - - 52 0 0.00 69 4 5.48 TNN 0 genome.wustl.edu 37 1 175092723 175092723 + Silent SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 175092723 175092723 C T SNP TNN ENST00000239462 human ensembl 74_37 +1 known silent c.2838 p.G946 0.727 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 tier1 - - 60 0 0.00 45 30 40.00 TOP2A 0 genome.wustl.edu 37 17 38567944 38567944 + Missense_Mutation SNP T T C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 17 38567944 38567944 T C SNP TOP2A ENST00000423485 human ensembl 74_37 -1 known missense c.916 p.K306E 1.000 pfam_Topo_IIA_bsu_dom2,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 - no_errors TOP2A HGNC ENSG00000131747 38 0 0.00 54 3 5.26 TP53 0 genome.wustl.edu 37 17 7578263 7578263 + Nonsense_Mutation SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 17 7578263 7578263 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.586 p.R196* 1.000 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 - - 38 0 0.00 33 13 27.08 TPTE2P1 0 genome.wustl.edu 37 13 25525623 25525623 + RNA SNP A A T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 13 25525623 25525623 A T SNP TPTE2P1 ENST00000429698 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors TPTE2P1 HGNC ENSG00000253771 80 0 0.00 65 4 5.80 TRIM26 0 genome.wustl.edu 37 6 30157254 30157254 + Frame_Shift_Del DEL T T - TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 6 30157254 30157254 T - DEL TRIM26 ENST00000437089 human ensembl 74_37 -1 known frame_shift_del c.845 p.K282fs 0.012 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM26 HGNC ENSG00000234127 tier1 35 0 0.00 20 2 9.09 TRIM3 0 genome.wustl.edu 37 11 6478090 6478090 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 11 6478090 6478090 C T SNP TRIM3 ENST00000345851 human ensembl 74_37 -1 known missense c.866 p.R289Q 0.998 NULL pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM3 HGNC ENSG00000110171 tier1 - - 69 0 0.00 63 15 19.23 TRIM32 0 genome.wustl.edu 37 9 119460513 119460513 + Silent SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 9 119460513 119460513 G A SNP TRIM32 ENST00000373983 human ensembl 74_37 +1 known silent c.492 p.Q164 1.000 NULL pfam_NHL_repeat,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM32 HGNC ENSG00000119401 tier1 - - 20 0 0.00 23 5 17.86 TRIM49C 0 genome.wustl.edu 37 11 89774338 89774338 + Missense_Mutation SNP A A C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 11 89774338 89774338 A C SNP TRIM49C ENST00000448984 human ensembl 74_37 +1 known missense c.979 p.S327R 0.001 superfamily_ConA-like_lec_gl_sf,prints_Butyrophylin,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM49C HGNC ENSG00000204449 tier1 - - 121 0 0.00 95 16 14.41 TRIM52 0 genome.wustl.edu 37 5 180687428 180687428 + Silent SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 5 180687428 180687428 C T SNP TRIM52 ENST00000327767 human ensembl 74_37 -1 known silent c.387 p.E129 0.097 smart_Znf_RING pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM52 HGNC ENSG00000183718 38 0 0.00 69 5 6.76 TRIM58 0 genome.wustl.edu 37 1 248039702 248039702 + Silent SNP T T C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 248039702 248039702 T C SNP TRIM58 ENST00000366481 human ensembl 74_37 +1 known silent c.1372 p.L458 0.000 superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM58 HGNC ENSG00000162722 tier1 - - 45 0 0.00 33 27 45.00 TRIML2 0 genome.wustl.edu 37 4 189018310 189018310 + Missense_Mutation SNP T T G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 4 189018310 189018310 T G SNP TRIML2 ENST00000512729 human ensembl 74_37 -1 known missense c.500 p.K167T 0.425 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors TRIML2 HGNC ENSG00000179046 tier1 - - 30 0 0.00 25 19 43.18 TRMT6 0 genome.wustl.edu 37 20 5922605 5922605 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 20 5922605 5922605 G T SNP TRMT6 ENST00000203001 human ensembl 74_37 -1 known missense c.1104 p.N368K 0.417 pirsf_tRNA_m1A_mtfrase pfam_EIF3_gamma,pirsf_tRNA_m1A_mtfrase - no_errors TRMT6 HGNC ENSG00000089195 29 0 0.00 45 3 6.25 TROVE2 0 genome.wustl.edu 37 1 193053775 193053775 + Missense_Mutation SNP C C A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 193053775 193053775 C A SNP TROVE2 ENST00000367441 human ensembl 74_37 +1 known missense c.1531 p.P511T 1.000 NULL pfam_TROVE,pfscan_TROVE - no_errors TROVE2 HGNC ENSG00000116747 tier1 - - 46 0 0.00 50 4 7.41 TRPM3 0 genome.wustl.edu 37 9 73376527 73376527 + Missense_Mutation SNP T T C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 9 73376527 73376527 T C SNP TRPM3 ENST00000423814 human ensembl 74_37 -1 known missense c.1343 p.K448R 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 tier1 - - 40 0 0.00 28 18 38.30 TRRAP 0 genome.wustl.edu 37 7 98591352 98591352 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 7 98591352 98591352 C T SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.9997 p.H3333Y 1.000 NULL pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 37 0 0.00 62 4 6.06 TTYH2 0 genome.wustl.edu 37 17 72218722 72218722 + Silent SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 17 72218722 72218722 C T SNP TTYH2 ENST00000269346 human ensembl 74_37 +1 known silent c.228 p.D76 0.000 pfam_Tweety pfam_Tweety - no_errors TTYH2 HGNC ENSG00000141540 35 0 0.00 69 4 5.48 TWIST1 0 genome.wustl.edu 37 7 19156473 19156473 + Missense_Mutation SNP A A C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 7 19156473 19156473 A C SNP TWIST1 ENST00000242261 human ensembl 74_37 -1 known missense c.472 p.F158V 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TWIST1 HGNC ENSG00000122691 tier1 - - 40 0 0.00 37 7 15.91 UBR4 0 genome.wustl.edu 37 1 19528214 19528214 + Missense_Mutation SNP A A G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 1 19528214 19528214 A G SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known missense c.272 p.L91P 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 tier1 - - 30 0 0.00 44 4 8.33 UBXN4 0 genome.wustl.edu 37 2 136519420 136519420 + Nonsense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 2 136519420 136519420 C T SNP UBXN4 ENST00000272638 human ensembl 74_37 +1 known nonsense c.541 p.Q181* 1.000 NULL pfam_UBX,superfamily_Thioredoxin-like_fold,smart_UBX,pfscan_UBX - no_errors UBXN4 HGNC ENSG00000144224 tier1 - - 51 0 0.00 72 5 6.49 UGT3A2 0 genome.wustl.edu 37 5 36038104 36038104 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 5 36038104 36038104 G T SNP UGT3A2 ENST00000282507 human ensembl 74_37 -1 known missense c.1090 p.R364S 0.005 pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A2 HGNC ENSG00000168671 tier1 - - 33 0 0.00 44 4 8.33 UNC50 0 genome.wustl.edu 37 2 99226273 99226273 + Missense_Mutation SNP G G C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 2 99226273 99226273 G C SNP UNC50 ENST00000409347 human ensembl 74_37 +1 known missense c.102 p.L34F 0.401 NULL pfam_UNC-50 - no_errors UNC50 HGNC ENSG00000115446 tier1 - - 35 0 0.00 41 10 19.61 UNC5D 0 genome.wustl.edu 37 8 35608143 35608143 + Missense_Mutation SNP T T A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 8 35608143 35608143 T A SNP UNC5D ENST00000404895 human ensembl 74_37 +1 known missense c.1979 p.L660H 0.999 NULL pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5D HGNC ENSG00000156687 tier1 - - 79 0 0.00 78 10 11.36 URGCP 0 genome.wustl.edu 37 7 43917890 43917890 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 7 43917890 43917890 C T SNP URGCP ENST00000453200 human ensembl 74_37 -1 known missense c.1172 p.R391H 0.969 NULL superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors URGCP HGNC ENSG00000106608 37 0 0.00 55 5 8.20 USP20 0 genome.wustl.edu 37 9 132632775 132632775 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 9 132632775 132632775 G T SNP USP20 ENST00000315480 human ensembl 74_37 +1 known missense c.1609 p.V537F 0.998 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP20 HGNC ENSG00000136878 tier1 - - 59 0 0.00 67 4 5.63 USP36 0 genome.wustl.edu 37 17 76810529 76810529 + Missense_Mutation SNP T T C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 17 76810529 76810529 T C SNP USP36 ENST00000312010 human ensembl 74_37 -1 known missense c.1129 p.S377G 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP36 HGNC ENSG00000055483 25 0 0.00 57 4 6.56 VCPIP1 0 genome.wustl.edu 37 8 67576954 67576954 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 8 67576954 67576954 G T SNP VCPIP1 ENST00000310421 human ensembl 74_37 -1 known missense c.2240 p.S747Y 1.000 NULL pfam_OTU,pfscan_OTU - no_errors VCPIP1 HGNC ENSG00000175073 tier1 - - 34 0 0.00 13 6 31.58 VIPAS39 0 genome.wustl.edu 37 14 77908903 77908903 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 14 77908903 77908903 C T SNP VIPAS39 ENST00000343765 human ensembl 74_37 -1 known missense c.734 p.R245K 1.000 pfam_Golgin_subfamily_A_member_5 pfam_Golgin_subfamily_A_member_5 - no_errors VIPAS39 HGNC ENSG00000151445 tier1 - - 36 0 0.00 23 12 34.29 VSIG10L 0 genome.wustl.edu 37 19 51837087 51837087 + Silent SNP G G C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 19 51837087 51837087 G C SNP VSIG10L ENST00000335624 human ensembl 74_37 -1 novel silent c.2532 p.L844 0.050 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors VSIG10L HGNC ENSG00000186806 tier1 - - 31 0 0.00 38 19 32.76 VSTM2A 0 genome.wustl.edu 37 7 54617710 54617710 + Missense_Mutation SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 7 54617710 54617710 G A SNP VSTM2A ENST00000402026 human ensembl 74_37 +1 known missense c.478 p.E160K 1.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors VSTM2A HGNC ENSG00000170419 47 0 0.00 36 2 5.26 VWCE 0 genome.wustl.edu 37 11 61048557 61048557 + Missense_Mutation SNP A A G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 11 61048557 61048557 A G SNP VWCE ENST00000335613 human ensembl 74_37 -1 known missense c.938 p.V313A 0.000 NULL pfam_VWF_C,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWF_C,smart_VWC_out,pfscan_EG-like_dom,pfscan_VWF_C - no_errors VWCE HGNC ENSG00000167992 tier1 - - 67 0 0.00 61 19 23.75 VWDE 0 genome.wustl.edu 37 7 12401077 12401077 + Missense_Mutation SNP A A C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 7 12401077 12401077 A C SNP VWDE ENST00000452576 human ensembl 74_37 -1 known missense c.2969 p.V990G 0.998 NULL pfam_VWF_type-D,superfamily_Cadherin-like,smart_VWF_type-D,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors VWDE HGNC ENSG00000146530 tier1 - - 33 0 0.00 41 5 10.87 WDFY4 0 genome.wustl.edu 37 10 50025447 50025447 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 10 50025447 50025447 C T SNP WDFY4 ENST00000325239 human ensembl 74_37 +1 known missense c.5498 p.A1833V 0.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC ENSG00000128815 tier1 - - 51 0 0.00 66 6 8.33 WDFY4 0 genome.wustl.edu 37 10 49929343 49929343 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 10 49929343 49929343 G T SNP WDFY4 ENST00000325239 human ensembl 74_37 +1 known missense c.387 p.W129C 0.976 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC ENSG00000128815 41 0 0.00 52 3 5.45 WDR33 0 genome.wustl.edu 37 2 128477673 128477673 + Silent SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 2 128477673 128477673 C T SNP WDR33 ENST00000322313 human ensembl 74_37 -1 known silent c.1926 p.L642 1.000 NULL pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR33 HGNC ENSG00000136709 tier1 - - 42 0 0.00 46 4 8.00 WDR48 0 genome.wustl.edu 37 3 39136632 39136632 + RNA SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 3 39136632 39136632 G A SNP WDR48 ENST00000466405 human ensembl 74_37 +1 known rna NULL NULL 0.018 - - - no_errors WDR48 HGNC ENSG00000114742 tier1 - - 47 0 0.00 69 4 5.48 WDR5B 0 genome.wustl.edu 37 3 122133874 122133874 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 3 122133874 122133874 C T SNP WDR5B ENST00000330689 human ensembl 74_37 -1 known missense c.502 p.D168N 1.000 pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR5B HGNC ENSG00000196981 tier1 - - 17 0 0.00 20 9 31.03 WFDC2 0 genome.wustl.edu 37 20 44099056 44099056 + Missense_Mutation SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 20 44099056 44099056 G A SNP WFDC2 ENST00000372676 human ensembl 74_37 +1 known missense c.107 p.C36Y 1.000 pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,prints_WAP-type_4-diS_core pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,prints_WAP-type_4-diS_core - no_errors WFDC2 HGNC ENSG00000101443 11 0 0.00 13 2 13.33 WNK2 0 genome.wustl.edu 37 9 96051729 96051729 + Missense_Mutation SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 9 96051729 96051729 G A SNP WNK2 ENST00000297954 human ensembl 74_37 +1 known missense c.4804 p.V1602M 0.980 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK2 HGNC ENSG00000165238 22 0 0.00 35 4 10.26 WRN 0 genome.wustl.edu 37 8 30999101 30999101 + Silent SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 8 30999101 30999101 C T SNP WRN ENST00000298139 human ensembl 74_37 +1 known silent c.3123 p.C1041 0.917 pfam_RQC_domain,smart_RQC_domain pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors WRN HGNC ENSG00000165392 tier1 - - 41 0 0.00 65 4 5.80 WWTR1 0 genome.wustl.edu 37 3 149260124 149260124 + Nonsense_Mutation SNP G G A TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 3 149260124 149260124 G A SNP WWTR1 ENST00000360632 human ensembl 74_37 -1 known nonsense c.769 p.Q257* 1.000 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WWTR1 HGNC ENSG00000018408 tier1 - - 44 0 0.00 44 4 8.33 ZDHHC14 0 genome.wustl.edu 37 6 158014064 158014064 + Missense_Mutation SNP A A G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 6 158014064 158014064 A G SNP ZDHHC14 ENST00000359775 human ensembl 74_37 +1 known missense c.451 p.R151G 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC14 HGNC ENSG00000175048 44 0 0.00 55 4 6.78 ZFP30 0 genome.wustl.edu 37 19 38126131 38126131 + Silent SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 19 38126131 38126131 G T SNP ZFP30 ENST00000351218 human ensembl 74_37 -1 known silent c.1311 p.P437 0.995 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 ZFP30 HGNC ENSG00000120784 tier1 - - 37 0 0.00 40 5 11.11 ZIC1 0 genome.wustl.edu 37 3 147128856 147128856 + Missense_Mutation SNP A A C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 3 147128856 147128856 A C SNP ZIC1 ENST00000282928 human ensembl 74_37 +1 known missense c.957 p.L319F 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC1 HGNC ENSG00000152977 tier1 - - 49 0 0.00 42 12 22.22 ZNF185 0 genome.wustl.edu 37 X 152097180 152097180 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c X 152097180 152097180 G T SNP ZNF185 ENST00000370270 human ensembl 74_37 +1 known missense c.889 p.V297L 0.987 NULL smart_Znf_LIM,pfscan_Znf_LIM - no_errors ZNF185 HGNC ENSG00000147394 tier1 - - 53 0 0.00 41 40 49.38 ZNF208 0 genome.wustl.edu 37 19 22155412 22155412 + Silent SNP T T C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 19 22155412 22155412 T C SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel silent c.2424 p.E808 0.000 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 ZNF208 HGNC ENSG00000160321 tier1 - - 64 0 0.00 69 16 18.82 ZNF215 0 genome.wustl.edu 37 11 6977060 6977060 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 11 6977060 6977060 G T SNP ZNF215 ENST00000278319 human ensembl 74_37 +1 known missense c.852 p.L284F 0.983 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF215 HGNC ENSG00000149054 tier1 - - 44 0 0.00 45 10 18.18 ZNF215 0 genome.wustl.edu 37 11 6953817 6953817 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 11 6953817 6953817 G T SNP ZNF215 ENST00000278319 human ensembl 74_37 +1 known missense c.314 p.R105M 0.981 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF215 HGNC ENSG00000149054 24 0 0.00 25 2 7.41 ZNF257 0 genome.wustl.edu 37 19 22271914 22271914 + Silent SNP T T G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 19 22271914 22271914 T G SNP ZNF257 ENST00000594947 human ensembl 74_37 +1 known silent c.1362 p.T454 0.994 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 ZNF257 HGNC ENSG00000197134 tier1 - - 37 0 0.00 34 4 10.53 ZNF385D 0 genome.wustl.edu 37 3 21466996 21466996 + Silent SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 3 21466996 21466996 C T SNP ZNF385D ENST00000281523 human ensembl 74_37 -1 known silent c.840 p.T280 0.967 pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385D HGNC ENSG00000151789 tier1 rs201622878 - 67 0 0.00 67 5 6.94 ZNF410 0 genome.wustl.edu 37 14 74364860 74364860 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 14 74364860 74364860 G T SNP ZNF410 ENST00000555044 human ensembl 74_37 +1 known missense c.475 p.D159Y 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF410 HGNC ENSG00000119725 60 0 0.00 55 4 6.78 ZNF527 0 genome.wustl.edu 37 19 37879856 37879856 + Missense_Mutation SNP A A G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 19 37879856 37879856 A G SNP ZNF527 ENST00000436120 human ensembl 74_37 +1 known missense c.905 p.Y302C 0.002 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF527 HGNC ENSG00000189164 29 0 0.00 39 3 7.14 ZNF532 0 genome.wustl.edu 37 18 56606792 56606792 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 18 56606792 56606792 G T SNP ZNF532 ENST00000336078 human ensembl 74_37 +1 known missense c.2644 p.A882S 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF532 HGNC ENSG00000074657 tier1 - - 42 0 0.00 35 4 10.26 ZNF570 0 genome.wustl.edu 37 19 37975773 37975773 + Nonsense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 19 37975773 37975773 C T SNP ZNF570 ENST00000330173 human ensembl 74_37 +1 known nonsense c.1249 p.Q417* 0.094 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 - - 42 0 0.00 55 7 11.29 ZNF585A 0 genome.wustl.edu 37 19 37643365 37643365 + Nonsense_Mutation SNP G G C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 19 37643365 37643365 G C SNP ZNF585A ENST00000356958 human ensembl 74_37 -1 known nonsense c.1436 p.S479* 0.000 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 ZNF585A HGNC ENSG00000196967 tier1 - - 83 0 0.00 77 39 33.62 ZNF606 0 genome.wustl.edu 37 19 58491553 58491553 + Missense_Mutation SNP T T C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 19 58491553 58491553 T C SNP ZNF606 ENST00000341164 human ensembl 74_37 -1 known missense c.495 p.I165M 0.995 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF606 HGNC ENSG00000166704 tier1 - - 35 0 0.00 41 5 10.87 ZNF610 0 genome.wustl.edu 37 19 52869351 52869351 + Silent SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 19 52869351 52869351 C T SNP ZNF610 ENST00000321287 human ensembl 74_37 +1 known silent c.720 p.V240 0.019 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 ZNF610 HGNC ENSG00000167554 tier1 - - 56 0 0.00 60 4 6.25 ZNF667 0 genome.wustl.edu 37 19 56981367 56981367 + Missense_Mutation SNP T T G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 19 56981367 56981367 T G SNP ZNF667 ENST00000342634 human ensembl 74_37 -1 known missense c.58 p.K20Q 0.002 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF667 HGNC ENSG00000198046 tier1 - - 32 0 0.00 37 17 31.48 ZNF677 0 genome.wustl.edu 37 19 53741686 53741686 + Missense_Mutation SNP T T G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 19 53741686 53741686 T G SNP ZNF677 ENST00000333952 human ensembl 74_37 -1 known missense c.294 p.E98D 0.064 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF677 HGNC ENSG00000197928 tier1 - - 62 0 0.00 49 34 40.96 ZNF727 0 genome.wustl.edu 37 7 63538205 63538205 + Nonsense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 7 63538205 63538205 G T SNP ZNF727 ENST00000550760 human ensembl 74_37 +1 known nonsense c.778 p.E260* 0.801 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 ZNF727 HGNC ENSG00000257482 tier1 - - 52 0 0.00 30 16 34.78 ZNF730 0 genome.wustl.edu 37 19 23328686 23328686 + Silent SNP A A G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 19 23328686 23328686 A G SNP ZNF730 ENST00000597761 human ensembl 74_37 +1 known silent c.840 p.G280 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF730 HGNC ENSG00000183850 tier1 - - 44 0 0.00 43 11 20.37 ZNF781 0 genome.wustl.edu 37 19 38160930 38160930 + Silent SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 19 38160930 38160930 C T SNP ZNF781 ENST00000358582 human ensembl 74_37 -1 known silent c.120 p.K40 0.429 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF781 HGNC ENSG00000196381 tier1 - - 53 0 0.00 72 10 12.20 ZNF90 0 genome.wustl.edu 37 19 20229823 20229823 + Missense_Mutation SNP A A G TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae7e4bef-a699-4444-849d-91415b60763f 4c66b924-401a-40bb-a134-07a35536cf3c 19 20229823 20229823 A G SNP ZNF90 ENST00000418063 human ensembl 74_37 +1 known missense c.1460 p.D487G 0.999 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 ZNF90 HGNC ENSG00000213988 tier1 - - 51 0 0.00 28 4 12.50