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 KIF1B 0 genome.wustl.edu 37 1 10386200 10386200 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 10386200 10386200 C T SNP KIF1B ENST00000263934 human ensembl 74_37 +1 known missense c.2569 p.R857C 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 265 1 0.37594 200 45 18.3673 PGD 0 genome.wustl.edu 37 1 10479510 10479510 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 10479510 10479510 G A SNP PGD ENST00000270776 human ensembl 74_37 +1 known missense c.1246 p.A416T 0.001 pfam_6PGDH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_6PGDH_decarbox pfam_6PGDH_C,pfam_6PGDH_NADP-bd,superfamily_6-PGluconate_DH_C-like,tigrfam_6PGDH_decarbox - no_errors PGD HGNC ENSG00000142657 140 0 0 115 26 18.4397 FNDC7 0 genome.wustl.edu 37 1 109270660 109270660 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 109270660 109270660 T C SNP FNDC7 ENST00000271311 human ensembl 74_37 +1 known missense c.1345 p.S449P 0.675 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC7 HGNC ENSG00000143107 204 0 0 186 11 5.58376 CELSR2 0 genome.wustl.edu 37 1 109794458 109794458 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 109794458 109794458 G A SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known missense c.1757 p.G586D 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 106 0 0 60 5 7.69231 GNAT2 0 genome.wustl.edu 37 1 110155418 110155418 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 110155418 110155418 C A SNP GNAT2 ENST00000351050 human ensembl 74_37 -1 known missense c.75 p.E25D 1.000 pfam_Gprotein_alpha_su,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_I - no_errors GNAT2 HGNC ENSG00000134183 131 0 0 97 23 19.1667 EPS8L3 0 genome.wustl.edu 37 1 110293322 110293322 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 110293322 110293322 C T SNP EPS8L3 ENST00000369805 human ensembl 74_37 -1 known missense c.1733 p.R578Q 0.001 superfamily_SAM/pointed pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8L3 HGNC ENSG00000198758 75 0 0 45 13 22.4138 EPS8L3 0 genome.wustl.edu 37 1 110300972 110300972 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 110300972 110300972 C T SNP EPS8L3 ENST00000369805 human ensembl 74_37 -1 known missense c.686 p.R229Q 0.000 NULL pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8L3 HGNC ENSG00000198758 341 0 0 241 35 12.6812 KCNC4 0 genome.wustl.edu 37 1 110765712 110765712 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 110765712 110765712 G A SNP KCNC4 ENST00000369787 human ensembl 74_37 +1 known missense c.805 p.V269M 0.957 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_K_chnl_volt-dep_Kv3_ID,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.4,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC4 HGNC ENSG00000116396 215 0 0 171 17 9.04255 LAMTOR5 0 genome.wustl.edu 37 1 110946654 110946654 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 110946654 110946654 G A SNP LAMTOR5 ENST00000256644 human ensembl 74_37 -1 known silent c.348 p.R116 1.000 NULL NULL - no_errors LAMTOR5 HGNC ENSG00000134248 110 0 0 90 11 10.8911 KCNA3 0 genome.wustl.edu 37 1 111216557 111216557 + Missense_Mutation SNP G G C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 111216557 111216557 G C SNP KCNA3 ENST00000369769 human ensembl 74_37 -1 known missense c.875 p.S292C 1.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA3 HGNC ENSG00000177272 134 0 0 121 8 6.20155 TTLL10 0 genome.wustl.edu 37 1 1120454 1120454 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 1120454 1120454 G A SNP TTLL10 ENST00000379289 human ensembl 74_37 +1 known missense c.1366 p.G456S 1.000 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL10 HGNC ENSG00000162571 47 0 0 36 14 28 ST7L 0 genome.wustl.edu 37 1 113093294 113093294 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 113093294 113093294 G A SNP ST7L ENST00000358039 human ensembl 74_37 -1 known missense c.1418 p.P473L 1.000 pfam_ST7 pfam_ST7 - no_errors ST7L HGNC ENSG00000007341 79 0 0 61 5 7.57576 UBIAD1 0 genome.wustl.edu 37 1 11333902 11333902 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 11333902 11333902 A G SNP UBIAD1 ENST00000376810 human ensembl 74_37 +1 known missense c.314 p.Y105C 1.000 pfam_UbiA_prenyltransferase pfam_UbiA_prenyltransferase - no_errors UBIAD1 HGNC ENSG00000120942 181 0 0 125 25 16.6667 PHTF1 0 genome.wustl.edu 37 1 114254420 114254420 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 114254420 114254420 C T SNP PHTF1 ENST00000369604 human ensembl 74_37 -1 known missense c.995 p.R332Q 0.999 NULL pfam_TF_homeodomain_male - no_errors PHTF1 HGNC ENSG00000116793 60 0 0 53 5 8.62069 AP4B1 0 genome.wustl.edu 37 1 114437750 114437750 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 114437750 114437750 C T SNP AP4B1 ENST00000256658 human ensembl 74_37 -1 known silent c.2157 p.T719 0.000 pfam_B-adaptin_app_sub_C,superfamily_Coatomer/calthrin_app_sub_C,pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,pirsf_AP_complex_bsu_1_2_4 - no_errors AP4B1 HGNC ENSG00000134262 46 0 0 29 2 6.45161 TRIM33 0 genome.wustl.edu 37 1 114947917 114947917 + RNA SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 114947917 114947917 C A SNP TRIM33 ENST00000476908 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors TRIM33 HGNC ENSG00000197323 24 0 0 6 6 50 AMPD1 0 genome.wustl.edu 37 1 115229524 115229524 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 115229524 115229524 G A SNP AMPD1 ENST00000520113 human ensembl 74_37 -1 known missense c.322 p.R108C 0.966 pirsf_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD1 HGNC ENSG00000116748 94 0 0 57 13 18.5714 SDF4 0 genome.wustl.edu 37 1 1152973 1152973 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 1152973 1152973 G A SNP SDF4 ENST00000360001 human ensembl 74_37 -1 known silent c.1008 p.P336 0.952 smart_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors SDF4 HGNC ENSG00000078808 105 0 0 60 14 18.9189 IGSF3 0 genome.wustl.edu 37 1 117150810 117150810 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 117150810 117150810 C T SNP IGSF3 ENST00000318837 human ensembl 74_37 -1 known missense c.976 p.A326T 1.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF3 HGNC ENSG00000143061 37 0 0 25 7 21.875 DRAXIN 0 genome.wustl.edu 37 1 11779718 11779718 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 11779718 11779718 G A SNP DRAXIN ENST00000294485 human ensembl 74_37 +1 known missense c.1015 p.A339T 0.952 NULL NULL - no_errors DRAXIN HGNC ENSG00000162490 51 0 0 37 3 7.5 GDAP2 0 genome.wustl.edu 37 1 118439374 118439374 + RNA SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 118439374 118439374 G A SNP GDAP2 ENST00000493555 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GDAP2 HGNC ENSG00000196505 46 0 0 28 13 31.7073 WARS2 0 genome.wustl.edu 37 1 119575732 119575732 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 119575732 119575732 C T SNP WARS2 ENST00000235521 human ensembl 74_37 -1 known silent c.885 p.A295 0.000 pfam_aa-tRNA-synth_Ic,tigrfam_Trp-tRNA-ligase pfam_aa-tRNA-synth_Ic,prints_Trp-tRNA-ligase,tigrfam_Trp-tRNA-ligase - no_errors WARS2 HGNC ENSG00000116874 147 0 0 128 9 6.56934 HIST2H2BA 0 genome.wustl.edu 37 1 120906064 120906064 + RNA SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 120906064 120906064 G A SNP HIST2H2BA ENST00000430394 human ensembl 74_37 +1 known rna NULL NULL 0.994 - - - no_errors HIST2H2BA HGNC ENSG00000223345 136 0 0 94 10 9.61538 SCNN1D 0 genome.wustl.edu 37 1 1221519 1221519 + Nonsense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 1221519 1221519 G A SNP SCNN1D ENST00000379101 human ensembl 74_37 +1 known nonsense c.678 p.W226* 0.610 NULL NULL - no_errors SCNN1D HGNC ENSG00000162572 27 0 0 24 2 7.69231 CPSF3L 0 genome.wustl.edu 37 1 1250257 1250257 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 1250257 1250257 G A SNP CPSF3L ENST00000540437 human ensembl 74_37 -1 known missense c.667 p.R223W 1.000 smart_Beta-lactamas-like pfam_Beta_Casp,pfam_Beta-lactamas-like,pfam_RMMBL,smart_Beta-lactamas-like - no_errors CPSF3L HGNC ENSG00000127054 91 0 0 67 6 8.21918 PRAMEF12 0 genome.wustl.edu 37 1 12835827 12835827 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 12835827 12835827 G A SNP PRAMEF12 ENST00000357726 human ensembl 74_37 +1 known silent c.429 p.Q143 0.001 NULL NULL - no_errors PRAMEF12 HGNC ENSG00000116726 200 0 0 126 10 7.35294 MXRA8 0 genome.wustl.edu 37 1 1290256 1290256 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 1290256 1290256 C T SNP MXRA8 ENST00000445648 human ensembl 74_37 -1 known missense c.755 p.R252H 0.978 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors MXRA8 HGNC ENSG00000162576 46 0 0 39 3 7.14286 PDPN 0 genome.wustl.edu 37 1 13910346 13910346 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 13910346 13910346 C T SNP PDPN ENST00000294489 human ensembl 74_37 +1 known missense c.46 p.R16W 0.000 NULL pfam_Podoplanin - no_errors PDPN HGNC ENSG00000162493 98 0 0 53 5 8.62069 PDE4DIP 0 genome.wustl.edu 37 1 144915560 144915560 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 144915560 144915560 C T SNP PDE4DIP ENST00000369356 human ensembl 74_37 -1 known missense c.1865 p.R622Q 0.182 superfamily_ARM-type_fold pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 258 0 0 181 12 6.21762 TARS2 0 genome.wustl.edu 37 1 150463092 150463092 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 150463092 150463092 A G SNP TARS2 ENST00000369064 human ensembl 74_37 +1 known missense c.403 p.S135G 1.000 superfamily_Thr/Ala-tRNA-synth_IIc_edit,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARS2 HGNC ENSG00000143374 128 0 0 93 18 16.2162 CTSK 0 genome.wustl.edu 37 1 150769275 150769275 + Nonstop_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 150769275 150769275 T C SNP CTSK ENST00000271651 human ensembl 74_37 -1 known nonstop c.990 p.*330W 0.998 NULL pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,pfam_Peptidase_C1B,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSK HGNC ENSG00000143387 234 1 0.425532 187 17 8.33333 BNIPL 0 genome.wustl.edu 37 1 151011319 151011319 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 151011319 151011319 C T SNP BNIPL ENST00000368931 human ensembl 74_37 +1 known missense c.250 p.R84C 1.000 pfam_Bcl2-/adenovirus-E1B pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors BNIPL HGNC ENSG00000163141 113 1 0.877193 95 6 5.94059 POGZ 0 genome.wustl.edu 37 1 151378412 151378412 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 151378412 151378412 C T SNP POGZ ENST00000271715 human ensembl 74_37 -1 known silent c.3099 p.E1033 1.000 pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 137 0 0 131 11 7.74648 CGN 0 genome.wustl.edu 37 1 151502489 151502489 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 151502489 151502489 G A SNP CGN ENST00000271636 human ensembl 74_37 +1 known silent c.2211 p.R737 0.952 NULL pfam_Myosin_tail - no_errors CGN HGNC ENSG00000143375 152 0 0 125 11 8.08824 CGN 0 genome.wustl.edu 37 1 151509232 151509232 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 151509232 151509232 G A SNP CGN ENST00000271636 human ensembl 74_37 +1 known silent c.3333 p.K1111 1.000 pfam_Myosin_tail pfam_Myosin_tail - no_errors CGN HGNC ENSG00000143375 95 0 0 70 14 16.6667 FLG 0 genome.wustl.edu 37 1 152280161 152280161 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 152280161 152280161 G A SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.7201 p.R2401C 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 170 0 0 130 29 18.239 FLG 0 genome.wustl.edu 37 1 152280936 152280936 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 152280936 152280936 C T SNP FLG ENST00000368799 human ensembl 74_37 -1 known silent c.6426 p.P2142 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 1003 1 0.0996016 770 95 10.9827 LCE1B 0 genome.wustl.edu 37 1 152785237 152785237 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 152785237 152785237 C T SNP LCE1B ENST00000360090 human ensembl 74_37 +1 known silent c.315 p.C105 1.000 NULL NULL - no_errors LCE1B HGNC ENSG00000196734 112 0 0 74 6 7.5 SMCP 0 genome.wustl.edu 37 1 152857143 152857143 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 152857143 152857143 C T SNP SMCP ENST00000368765 human ensembl 74_37 +1 known missense c.245 p.P82L 0.000 NULL NULL - no_errors SMCP HGNC ENSG00000163206 202 0 0 128 27 17.4194 ADAM15 0 genome.wustl.edu 37 1 155030118 155030118 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 155030118 155030118 C T SNP ADAM15 ENST00000356955 human ensembl 74_37 +1 known silent c.1329 p.C443 0.922 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_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM15 HGNC ENSG00000143537 142 1 0.699301 68 17 20 FDPS 0 genome.wustl.edu 37 1 155287769 155287769 + Missense_Mutation SNP A A C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 155287769 155287769 A C SNP FDPS ENST00000356657 human ensembl 74_37 +1 known missense c.518 p.D173A 0.999 pfam_Polyprenyl_synt,superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors FDPS HGNC ENSG00000160752 73 0 0 45 11 19.6429 ARHGEF2 0 genome.wustl.edu 37 1 155931599 155931599 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 155931599 155931599 G A SNP ARHGEF2 ENST00000368315 human ensembl 74_37 -1 known missense c.1324 p.R442C 1.000 superfamily_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF2 HGNC ENSG00000116584 113 0 0 77 14 15.3846 MEX3A 0 genome.wustl.edu 37 1 156047381 156047381 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 156047381 156047381 G A SNP MEX3A ENST00000532414 human ensembl 74_37 -1 known missense c.547 p.R183W 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3A HGNC ENSG00000254726 27 0 0 17 5 22.7273 GPATCH4 0 genome.wustl.edu 37 1 156568099 156568099 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 156568099 156568099 G A SNP GPATCH4 ENST00000438976 human ensembl 74_37 -1 known missense c.181 p.P61S 0.999 pfscan_G_patch_dom pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH4 HGNC ENSG00000160818 206 0 0 149 28 15.8192 INSRR 0 genome.wustl.edu 37 1 156819054 156819054 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 156819054 156819054 G A SNP INSRR ENST00000368195 human ensembl 74_37 -1 known silent c.1428 p.N476 1.000 pirsf_Tyr_kinase_insulin-like_rcpt 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_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,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 INSRR HGNC ENSG00000027644 150 0 0 81 13 13.8298 LRRC71 0 genome.wustl.edu 37 1 156902758 156902758 + Silent SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 156902758 156902758 C A SNP LRRC71 ENST00000337428 human ensembl 74_37 +1 known silent c.1677 p.P559 0.128 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC71 HGNC ENSG00000160838 12 0 0 3 4 57.1429 FCRL3 0 genome.wustl.edu 37 1 157648483 157648483 + RNA SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 157648483 157648483 C T SNP FCRL3 ENST00000468507 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FCRL3 HGNC ENSG00000160856 146 0 0 107 27 20.1493 CELA2A 0 genome.wustl.edu 37 1 15788097 15788097 + Silent SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 15788097 15788097 C A SNP CELA2A ENST00000359621 human ensembl 74_37 +1 known silent c.171 p.T57 0.999 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors CELA2A HGNC ENSG00000142615 126 0 0 124 7 5.34351 OR10K2 0 genome.wustl.edu 37 1 158389904 158389904 + Missense_Mutation SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 158389904 158389904 G T SNP OR10K2 ENST00000314902 human ensembl 74_37 -1 known missense c.753 p.H251Q 0.093 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10K2 HGNC ENSG00000180708 90 0 0 76 20 20.8333 OR6Y1 0 genome.wustl.edu 37 1 158517023 158517023 + Missense_Mutation SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 158517023 158517023 G T SNP OR6Y1 ENST00000302617 human ensembl 74_37 -1 known missense c.873 p.N291K 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6Y1 HGNC ENSG00000197532 155 0 0 108 30 21.7391 SPTA1 0 genome.wustl.edu 37 1 158647587 158647587 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 158647587 158647587 C T SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.850 p.E284K 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 93 0 0 70 20 22.2222 IFI16 0 genome.wustl.edu 37 1 159021772 159021772 + Nonsense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 159021772 159021772 C T SNP IFI16 ENST00000295809 human ensembl 74_37 +1 known nonsense c.1969 p.R657* 0.000 pfam_HIN200/IF120x,pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC ENSG00000163565 105 0 0 80 7 8.04598 KCNJ10 0 genome.wustl.edu 37 1 160011276 160011276 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 160011276 160011276 G A SNP KCNJ10 ENST00000368089 human ensembl 74_37 -1 known silent c.1047 p.Y349 0.001 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.2 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.2,prints_K_chnl_inward-rec_Kir1.1 - no_errors KCNJ10 HGNC ENSG00000177807 67 0 0 32 8 20 PPOX 0 genome.wustl.edu 37 1 161136994 161136994 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 161136994 161136994 G A SNP PPOX ENST00000352210 human ensembl 74_37 +1 known silent c.192 p.A64 0.002 pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase - no_errors PPOX HGNC ENSG00000143224 379 0 0 251 50 16.6113 UAP1 0 genome.wustl.edu 37 1 162549390 162549390 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 162549390 162549390 C T SNP UAP1 ENST00000271469 human ensembl 74_37 +1 known missense c.658 p.P220S 1.000 pfam_UDPGP_trans pfam_UDPGP_trans - no_errors UAP1 HGNC ENSG00000117143 80 0 0 67 11 14.1026 RGS5 0 genome.wustl.edu 37 1 163131737 163131737 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 163131737 163131737 C T SNP RGS5 ENST00000313961 human ensembl 74_37 -1 known missense c.185 p.R62H 1.000 superfamily_Regulat_G_prot_signal_superfam,prints_RGS_dom pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS5 HGNC ENSG00000143248 85 0 0 48 12 20 EPHA2 0 genome.wustl.edu 37 1 16459797 16459797 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 16459797 16459797 G A SNP EPHA2 ENST00000358432 human ensembl 74_37 -1 known missense c.1931 p.A644V 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA2 HGNC ENSG00000142627 130 0 0 89 17 16.0377 ARHGEF19 0 genome.wustl.edu 37 1 16532039 16532039 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 16532039 16532039 C A SNP ARHGEF19 ENST00000270747 human ensembl 74_37 -1 known missense c.1575 p.L525F 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF19 HGNC ENSG00000142632 48 0 0 27 4 12.9032 LRRC52 0 genome.wustl.edu 37 1 165513722 165513722 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 165513722 165513722 C T SNP LRRC52 ENST00000294818 human ensembl 74_37 +1 known silent c.189 p.N63 0.997 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC52 HGNC ENSG00000162763 230 0 0 134 48 26.3736 TMCO1 0 genome.wustl.edu 37 1 165712524 165712524 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 165712524 165712524 C T SNP TMCO1 ENST00000367881 human ensembl 74_37 -1 known silent c.501 p.K167 0.999 pfam_DUF106_TM pfam_DUF106_TM - no_errors TMCO1 HGNC ENSG00000143183 88 0 0 71 12 14.4578 CROCCP2 0 genome.wustl.edu 37 1 16946324 16946324 + RNA SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 16946324 16946324 G A SNP CROCCP2 ENST00000412962 human ensembl 74_37 -1 known rna NULL NULL 0.058 - - - no_errors CROCCP2 HGNC ENSG00000215908 13 0 0 12 3 20 PRRC2C 0 genome.wustl.edu 37 1 171504671 171504671 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 171504671 171504671 G A SNP PRRC2C ENST00000392078 human ensembl 74_37 +1 known missense c.1978 p.A660T 1.000 NULL pfam_BAT2_N - no_errors PRRC2C HGNC ENSG00000117523 172 0 0 137 14 9.27152 RASAL2 0 genome.wustl.edu 37 1 178411822 178411822 + Nonsense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 178411822 178411822 C T SNP RASAL2 ENST00000367649 human ensembl 74_37 +1 known nonsense c.940 p.R314* 0.984 NULL pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors RASAL2 HGNC ENSG00000075391 97 0 0 58 8 12.1212 ZNF648 0 genome.wustl.edu 37 1 182026325 182026325 + Missense_Mutation SNP C C G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 182026325 182026325 C G SNP ZNF648 ENST00000339948 human ensembl 74_37 -1 novel missense c.821 p.G274A 0.014 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF648 HGNC ENSG00000179930 28 0 0 14 4 22.2222 SWT1 0 genome.wustl.edu 37 1 185153998 185153998 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 185153998 185153998 A G SNP SWT1 ENST00000367500 human ensembl 74_37 +1 known missense c.1364 p.D455G 0.212 smart_PIN_dom smart_PIN_dom - no_errors SWT1 HGNC ENSG00000116668 122 0 0 81 8 8.98876 IGSF21 0 genome.wustl.edu 37 1 18661448 18661448 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 18661448 18661448 G A SNP IGSF21 ENST00000251296 human ensembl 74_37 +1 known missense c.368 p.R123H 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors IGSF21 HGNC ENSG00000117154 65 0 0 58 5 7.93651 PTGS2 0 genome.wustl.edu 37 1 186644585 186644585 + RNA SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 186644585 186644585 A G SNP PTGS2 ENST00000466691 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PTGS2 HGNC ENSG00000073756 33 0 0 17 8 32 UBR4 0 genome.wustl.edu 37 1 19472403 19472403 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 19472403 19472403 G A SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known missense c.7829 p.P2610L 0.987 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 82 0 0 58 18 23.6842 UBR4 0 genome.wustl.edu 37 1 19482887 19482887 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 19482887 19482887 C A SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known missense c.5950 p.G1984C 1.000 superfamily_WD40_repeat_dom,superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 80 0 0 60 11 15.493 LHX9 0 genome.wustl.edu 37 1 197898270 197898270 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 197898270 197898270 G A SNP LHX9 ENST00000367387 human ensembl 74_37 +1 known missense c.1075 p.A359T 1.000 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX9 HGNC ENSG00000143355 132 0 0 73 20 21.5054 DSTYK 0 genome.wustl.edu 37 1 205128707 205128707 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 205128707 205128707 G A SNP DSTYK ENST00000367162 human ensembl 74_37 -1 known missense c.2206 p.R736W 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DSTYK HGNC ENSG00000133059 26 0 0 18 7 28 PLXNA2 0 genome.wustl.edu 37 1 208225674 208225674 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 208225674 208225674 G A SNP PLXNA2 ENST00000367033 human ensembl 74_37 -1 known silent c.2991 p.Y997 0.302 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA2 HGNC ENSG00000076356 133 0 0 83 15 15.3061 KIF17 0 genome.wustl.edu 37 1 20992758 20992758 + Nonsense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 20992758 20992758 G A SNP KIF17 ENST00000247986 human ensembl 74_37 -1 known nonsense c.2860 p.R954* 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF17 HGNC ENSG00000117245 173 1 0.574713 152 11 6.74847 CENPF 0 genome.wustl.edu 37 1 214794185 214794185 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 214794185 214794185 C A SNP CENPF ENST00000366955 human ensembl 74_37 +1 known missense c.761 p.P254Q 0.976 pfam_Centromere_CenpF_N pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 129 0 0 78 20 20.4082 USH2A 0 genome.wustl.edu 37 1 215824087 215824087 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 215824087 215824087 G A SNP USH2A ENST00000366943 human ensembl 74_37 -1 known silent c.14190 p.T4730 0.002 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 234 0 0 178 49 21.5859 RAP1GAP 0 genome.wustl.edu 37 1 21938056 21938056 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 21938056 21938056 G A SNP RAP1GAP ENST00000290101 human ensembl 74_37 -1 known silent c.924 p.D308 0.998 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_Rap_GAP_dom,pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Rap_GAP_dom - no_errors RAP1GAP HGNC ENSG00000076864 106 0 0 60 21 25.9259 MARK1 0 genome.wustl.edu 37 1 220826691 220826691 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 220826691 220826691 G A SNP MARK1 ENST00000366917 human ensembl 74_37 +1 known missense c.1985 p.R662H 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors MARK1 HGNC ENSG00000116141 69 0 0 50 15 23.0769 HLX 0 genome.wustl.edu 37 1 221057717 221057717 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 221057717 221057717 G A SNP HLX ENST00000366903 human ensembl 74_37 +1 known missense c.1138 p.D380N 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors HLX HGNC ENSG00000136630 57 0 0 36 11 23.4043 HSPG2 0 genome.wustl.edu 37 1 22160083 22160083 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 22160083 22160083 T C SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.10855 p.S3619G 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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 92 0 0 60 10 14.2857 HSPG2 0 genome.wustl.edu 37 1 22205552 22205552 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 22205552 22205552 G A SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known silent c.2406 p.D802 0.924 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 65 0 0 53 8 13.1148 ITPKB 0 genome.wustl.edu 37 1 226829622 226829622 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 226829622 226829622 C A SNP ITPKB ENST00000272117 human ensembl 74_37 -1 known missense c.2451 p.K817N 1.000 pfam_IPK pfam_IPK - no_errors ITPKB HGNC ENSG00000143772 145 0 0 124 10 7.46269 ARF1 0 genome.wustl.edu 37 1 228285343 228285343 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 228285343 228285343 G A SNP ARF1 ENST00000272102 human ensembl 74_37 +1 known missense c.311 p.R104H 0.997 pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARF1 HGNC ENSG00000143761 118 0 0 102 21 17.0732 OBSCN 0 genome.wustl.edu 37 1 228400308 228400308 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 228400308 228400308 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.824 p.G275D 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_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 134 0 0 96 6 5.88235 OBSCN 0 genome.wustl.edu 37 1 228412242 228412242 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 228412242 228412242 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known silent c.2736 p.C912 0.954 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_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 75 0 0 61 7 10.2941 OBSCN 0 genome.wustl.edu 37 1 228433175 228433175 + Silent SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 228433175 228433175 G T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known silent c.3543 p.G1181 0.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_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 114 0 0 70 12 14.6341 LYST 0 genome.wustl.edu 37 1 235916502 235916502 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 235916502 235916502 T C SNP LYST ENST00000389793 human ensembl 74_37 -1 known missense c.7302 p.I2434M 0.607 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 125 0 0 103 24 18.8976 LYST 0 genome.wustl.edu 37 1 235920596 235920596 + Silent SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 235920596 235920596 T C SNP LYST ENST00000389793 human ensembl 74_37 -1 known silent c.7044 p.Q2348 0.997 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 70 0 0 45 11 19.6429 NID1 0 genome.wustl.edu 37 1 236201529 236201529 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 236201529 236201529 C T SNP NID1 ENST00000264187 human ensembl 74_37 -1 known missense c.1160 p.R387H 0.828 smart_EGF-like_Ca-bd_dom pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID1 HGNC ENSG00000116962 125 0 0 94 11 10.4762 GALE 0 genome.wustl.edu 37 1 24122987 24122987 + RNA SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 24122987 24122987 G T SNP GALE ENST00000469556 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GALE HGNC ENSG00000117308 72 0 0 50 11 18.0328 EXO1 0 genome.wustl.edu 37 1 242042157 242042157 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 242042157 242042157 G A SNP EXO1 ENST00000348581 human ensembl 74_37 +1 known missense c.1621 p.E541K 0.218 NULL pfam_XPG-I_dom,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2 - no_errors EXO1 HGNC ENSG00000174371 90 0 0 55 14 20.2899 ZBTB18 0 genome.wustl.edu 37 1 244218334 244218334 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 244218334 244218334 A G SNP ZBTB18 ENST00000358704 human ensembl 74_37 +1 known missense c.1258 p.T420A 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB18 HGNC ENSG00000179456 125 0 0 78 8 9.30233 KIF26B 0 genome.wustl.edu 37 1 245849800 245849800 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 245849800 245849800 C T SNP KIF26B ENST00000407071 human ensembl 74_37 +1 known missense c.3515 p.T1172M 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 78 0 0 46 15 24.5902 SCCPDH 0 genome.wustl.edu 37 1 246921560 246921560 + Silent SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 246921560 246921560 A G SNP SCCPDH ENST00000366510 human ensembl 74_37 +1 known silent c.597 p.S199 0.991 pfam_Saccharopine_DH/HSpermid_syn pfam_Saccharopine_DH/HSpermid_syn - no_errors SCCPDH HGNC ENSG00000143653 68 0 0 54 5 8.47458 ARID1A 0 genome.wustl.edu 37 1 27097630 27097630 + Nonsense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 27097630 27097630 G A SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known nonsense c.3219 p.W1073* 1.000 pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 64 0 0 46 4 8 SYTL1 0 genome.wustl.edu 37 1 27673938 27673938 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 27673938 27673938 C A SNP SYTL1 ENST00000543823 human ensembl 74_37 +1 known missense c.218 p.P73H 0.915 superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ - no_errors SYTL1 HGNC ENSG00000142765 92 0 0 58 10 14.7059 AHDC1 0 genome.wustl.edu 37 1 27876334 27876334 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 27876334 27876334 C A SNP AHDC1 ENST00000247087 human ensembl 74_37 -1 known missense c.2293 p.G765C 0.635 NULL NULL - no_errors AHDC1 HGNC ENSG00000126705 98 0 0 85 7 7.6087 HCRTR1 0 genome.wustl.edu 37 1 32090630 32090630 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 32090630 32090630 G A SNP HCRTR1 ENST00000373706 human ensembl 74_37 +1 known missense c.998 p.R333H 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_1,prints_NPY_rcpt - no_errors HCRTR1 HGNC ENSG00000121764 106 1 0.934579 82 18 18 RBBP4 0 genome.wustl.edu 37 1 33134427 33134427 + Missense_Mutation SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 33134427 33134427 G T SNP RBBP4 ENST00000373493 human ensembl 74_37 +1 known missense c.572 p.G191V 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Histone-bd_RBBP4_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors RBBP4 HGNC ENSG00000162521 130 0 0 86 13 13.1313 KIAA1522 0 genome.wustl.edu 37 1 33237694 33237694 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 33237694 33237694 T C SNP KIAA1522 ENST00000401073 human ensembl 74_37 +1 known missense c.2914 p.F972L 1.000 NULL NULL - no_errors KIAA1522 HGNC ENSG00000162522 42 0 0 24 5 17.2414 DLGAP3 0 genome.wustl.edu 37 1 35334674 35334674 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 35334674 35334674 G A SNP DLGAP3 ENST00000235180 human ensembl 74_37 -1 known missense c.2017 p.R673C 1.000 pfam_GKAP pfam_GKAP - no_errors DLGAP3 HGNC ENSG00000116544 24 0 0 16 6 27.2727 MACF1 0 genome.wustl.edu 37 1 39797522 39797522 + Missense_Mutation SNP A A T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 39797522 39797522 A T SNP MACF1 ENST00000567887 human ensembl 74_37 +1 putative missense c.5373 p.E1791D 1.000 superfamily_RNaseH-like_dom,smart_Plectin_repeat pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_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 MACF1 HGNC ENSG00000127603 95 0 0 50 16 24.2424 NT5C1A 0 genome.wustl.edu 37 1 40131256 40131256 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 40131256 40131256 C T SNP NT5C1A ENST00000235628 human ensembl 74_37 -1 known missense c.370 p.V124I 1.000 pfam_5-nucleotidase pfam_5-nucleotidase - no_errors NT5C1A HGNC ENSG00000116981 54 0 0 41 7 14.5833 OXCT2 0 genome.wustl.edu 37 1 40236095 40236095 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 40236095 40236095 C T SNP OXCT2 ENST00000327582 human ensembl 74_37 -1 known missense c.833 p.R278Q 0.820 pirsf_3-oxoacid_CoA-transferase pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B,tigrfam_3-oxoacid_CoA-transf_A - no_errors OXCT2 HGNC ENSG00000198754 153 0 0 110 21 16.0305 SLFNL1 0 genome.wustl.edu 37 1 41486228 41486228 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 41486228 41486228 C T SNP SLFNL1 ENST00000302946 human ensembl 74_37 -1 known silent c.105 p.T35 0.000 NULL pfam_ATPase_AAA-4 - no_errors SLFNL1 HGNC ENSG00000171790 138 0 0 99 18 15.3846 HIVEP3 0 genome.wustl.edu 37 1 42049025 42049025 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 42049025 42049025 C T SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known missense c.1444 p.D482N 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 154 0 0 112 9 7.43802 CCDC30 0 genome.wustl.edu 37 1 43032075 43032075 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 43032075 43032075 C T SNP CCDC30 ENST00000340612 human ensembl 74_37 +1 known missense c.784 p.L262F 1.000 NULL NULL - no_errors CCDC30 HGNC ENSG00000186409 121 1 0.819672 82 15 15.4639 CLDN19 0 genome.wustl.edu 37 1 43204116 43204116 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 43204116 43204116 C T SNP CLDN19 ENST00000296387 human ensembl 74_37 -1 known missense c.364 p.G122R 1.000 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin - no_errors CLDN19 HGNC ENSG00000164007 84 0 0 57 6 9.52381 TMEM125 0 genome.wustl.edu 37 1 43738577 43738577 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 43738577 43738577 C T SNP TMEM125 ENST00000432792 human ensembl 74_37 +1 known missense c.184 p.R62C 1.000 NULL NULL - no_errors TMEM125 HGNC ENSG00000179178 28 0 0 20 2 9.09091 TIE1 0 genome.wustl.edu 37 1 43774660 43774660 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 43774660 43774660 G A SNP TIE1 ENST00000372476 human ensembl 74_37 +1 known missense c.1046 p.R349Q 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TIE1 HGNC ENSG00000066056 78 0 0 53 17 24.2857 SZT2 0 genome.wustl.edu 37 1 43896975 43896975 + Silent SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 43896975 43896975 A G SNP SZT2 ENST00000562955 human ensembl 74_37 +1 known silent c.4785 p.P1595 0.761 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 288 0 0 200 32 13.7931 SZT2 0 genome.wustl.edu 37 1 43908165 43908165 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 43908165 43908165 G A SNP SZT2 ENST00000562955 human ensembl 74_37 +1 known missense c.7856 p.R2619Q 1.000 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 109 0 0 69 11 13.75 SLC6A9 0 genome.wustl.edu 37 1 44467245 44467245 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 44467245 44467245 G A SNP SLC6A9 ENST00000360584 human ensembl 74_37 -1 known silent c.1236 p.F412 0.097 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_glycine_GLY1 - no_errors SLC6A9 HGNC ENSG00000196517 226 0 0 148 43 22.5131 TESK2 0 genome.wustl.edu 37 1 45811603 45811603 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 45811603 45811603 G A SNP TESK2 ENST00000372086 human ensembl 74_37 -1 known missense c.943 p.R315C 0.127 superfamily_Kinase-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TESK2 HGNC ENSG00000070759 113 0 0 94 5 5.05051 MOB3C 0 genome.wustl.edu 37 1 47078943 47078943 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 47078943 47078943 C T SNP MOB3C ENST00000271139 human ensembl 74_37 -1 known silent c.207 p.P69 0.010 superfamily_Mob1_phocein pfam_Mob1_phocein,superfamily_Mob1_phocein - no_errors MOB3C HGNC ENSG00000142961 137 0 0 108 30 21.7391 FOXD2 0 genome.wustl.edu 37 1 47904538 47904538 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 47904538 47904538 G A SNP FOXD2 ENST00000334793 human ensembl 74_37 +1 known missense c.731 p.R244H 0.994 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD2 HGNC ENSG00000186564 38 0 0 16 7 30.4348 BEND5 0 genome.wustl.edu 37 1 49224924 49224924 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 49224924 49224924 C T SNP BEND5 ENST00000371833 human ensembl 74_37 -1 known silent c.393 p.A131 0.694 NULL pfam_BEN_domain - no_errors BEND5 HGNC ENSG00000162373 14 0 0 9 3 25 DMRTA2 0 genome.wustl.edu 37 1 50884936 50884936 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 50884936 50884936 C T SNP DMRTA2 ENST00000404795 human ensembl 74_37 -1 known missense c.1030 p.V344M 1.000 pfam_DMA,superfamily_UBA-like pfam_DM_DNA-bd,pfam_DMA,superfamily_DM_DNA-bd,superfamily_UBA-like,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRTA2 HGNC ENSG00000142700 37 0 0 28 4 12.5 FAF1 0 genome.wustl.edu 37 1 50941230 50941230 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 50941230 50941230 G A SNP FAF1 ENST00000371778 human ensembl 74_37 -1 known missense c.1775 p.A592V 1.000 pfam_UBX,smart_UBX,pfscan_UBX pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX - no_errors FAF1 HGNC ENSG00000185104 85 0 0 64 23 26.4368 DAB1 0 genome.wustl.edu 37 1 57476354 57476354 + RNA SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 57476354 57476354 C A SNP DAB1 ENST00000485760 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors DAB1 HGNC ENSG00000173406 119 0 0 86 20 18.8679 LEPR 0 genome.wustl.edu 37 1 66102159 66102159 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 66102159 66102159 G A SNP LEPR ENST00000349533 human ensembl 74_37 +1 known missense c.2959 p.A987T 0.999 NULL pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LEPR HGNC ENSG00000116678 98 0 0 57 23 28.75 PTGER3 0 genome.wustl.edu 37 1 71512649 71512649 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 71512649 71512649 G A SNP PTGER3 ENST00000354608 human ensembl 74_37 -1 known silent c.612 p.P204 0.988 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prostanoid_rcpt,prints_Thbox_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srbc,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP3_rcpt,prints_Prostanoid_rcpt,prints_EP3_rcpt_2,prints_Prostglndn_DP_rcpt,prints_GPCR_Rhodpsn,prints_Thbox_rcpt - no_errors PTGER3 HGNC ENSG00000050628 133 0 0 105 11 9.48276 FPGT-TNNI3K 0 genome.wustl.edu 37 1 74834918 74834918 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 74834918 74834918 G A SNP FPGT-TNNI3K ENST00000557284 human ensembl 74_37 +1 known missense c.1784 p.R595Q 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FPGT-TNNI3K HGNC ENSG00000259030 74 0 0 40 4 9.09091 SLC44A5 0 genome.wustl.edu 37 1 75679471 75679471 + Silent SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 75679471 75679471 C A SNP SLC44A5 ENST00000370855 human ensembl 74_37 -1 known silent c.1881 p.L627 0.998 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A5 HGNC ENSG00000137968 108 1 0.917431 64 20 23.8095 LRRC8B 0 genome.wustl.edu 37 1 90049769 90049769 + Silent SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 90049769 90049769 T C SNP LRRC8B ENST00000330947 human ensembl 74_37 +1 known silent c.1560 p.C520 0.953 smart_Leu-rich_rpt_typical-subtyp pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8B HGNC ENSG00000197147 132 0 0 69 18 20.6897 ABCA4 0 genome.wustl.edu 37 1 94528700 94528700 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 94528700 94528700 G A SNP ABCA4 ENST00000370225 human ensembl 74_37 -1 known silent c.1728 p.D576 1.000 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 235 0 0 140 46 24.7312 PIK3CD 0 genome.wustl.edu 37 1 9781280 9781280 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 9781280 9781280 C T SNP PIK3CD ENST00000536656 human ensembl 74_37 +1 known silent c.1857 p.F619 0.732 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CD HGNC ENSG00000171608 108 0 0 89 23 20.5357 CLSTN1 0 genome.wustl.edu 37 1 9791937 9791937 + Silent SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 9791937 9791937 C A SNP CLSTN1 ENST00000377298 human ensembl 74_37 -1 known silent c.2445 p.T815 0.522 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CLSTN1 HGNC ENSG00000171603 102 0 0 57 19 25 PKD2L1 0 genome.wustl.edu 37 10 102054765 102054765 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 102054765 102054765 T C SNP PKD2L1 ENST00000318222 human ensembl 74_37 -1 known missense c.1472 p.Y491C 1.000 pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2,prints_PKD_1 pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2,prints_PKD_1 - no_errors PKD2L1 HGNC ENSG00000107593 103 0 0 76 5 6.17284 SEC31B 0 genome.wustl.edu 37 10 102267696 102267696 + Missense_Mutation SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 102267696 102267696 G T SNP SEC31B ENST00000370345 human ensembl 74_37 -1 known missense c.608 p.P203H 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31B HGNC ENSG00000075826 162 0 0 123 9 6.81818 PDCD11 0 genome.wustl.edu 37 10 105200581 105200581 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 105200581 105200581 G A SNP PDCD11 ENST00000369797 human ensembl 74_37 +1 known missense c.4531 p.A1511T 0.000 NULL pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 78 0 0 51 18 26.087 IDI2 0 genome.wustl.edu 37 10 1065710 1065710 + Nonsense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 1065710 1065710 C T SNP IDI2 ENST00000277517 human ensembl 74_37 -1 known nonsense c.431 p.W144* 1.000 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1 - no_errors IDI2 HGNC ENSG00000148377 135 0 0 79 20 20.202 PDCD4 0 genome.wustl.edu 37 10 112647591 112647591 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 112647591 112647591 A G SNP PDCD4 ENST00000280154 human ensembl 74_37 +1 known missense c.724 p.K242E 1.000 pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI - no_errors PDCD4 HGNC ENSG00000150593 120 0 0 109 19 14.8438 GPAM 0 genome.wustl.edu 37 10 113917103 113917103 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 113917103 113917103 C T SNP GPAM ENST00000348367 human ensembl 74_37 -1 known silent c.2025 p.Q675 1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors GPAM HGNC ENSG00000119927 86 0 0 58 6 9.375 DHTKD1 0 genome.wustl.edu 37 10 12148275 12148275 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 12148275 12148275 G A SNP DHTKD1 ENST00000263035 human ensembl 74_37 +1 known missense c.1927 p.V643I 1.000 pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_Transketolase-like_Pyr-bd,pfam_DH_E1,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors DHTKD1 HGNC ENSG00000181192 144 0 0 82 34 29.3103 CPXM2 0 genome.wustl.edu 37 10 125528203 125528203 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 125528203 125528203 C T SNP CPXM2 ENST00000241305 human ensembl 74_37 -1 known missense c.1138 p.G380S 1.000 pfam_Peptidase_M14,prints_Peptidase_M14 pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors CPXM2 HGNC ENSG00000121898 173 0 0 111 16 12.5984 LHPP 0 genome.wustl.edu 37 10 126186676 126186676 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 126186676 126186676 G A SNP LHPP ENST00000368842 human ensembl 74_37 +1 known silent c.603 p.A201 0.500 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_hyp2,tigrfam_HAD-SF_hydro_IIA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_hyp2,tigrfam_HAD-SF_hydro_IIA - no_errors LHPP HGNC ENSG00000107902 119 1 0.833333 82 14 14.5833 CTBP2 0 genome.wustl.edu 37 10 126714993 126714993 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 126714993 126714993 C T SNP CTBP2 ENST00000309035 human ensembl 74_37 -1 known missense c.1336 p.A446T 0.397 NULL pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom - no_errors CTBP2 HGNC ENSG00000175029 64 0 0 40 4 9.09091 C10orf137 0 genome.wustl.edu 37 10 127414391 127414391 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 127414391 127414391 C T SNP C10orf137 ENST00000356792 human ensembl 74_37 +1 known missense c.776 p.P259L 1.000 NULL NULL - no_errors C10orf137 HGNC ENSG00000107938 73 0 0 61 8 11.5942 PTPRE 0 genome.wustl.edu 37 10 129881123 129881123 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 129881123 129881123 G A SNP PTPRE ENST00000254667 human ensembl 74_37 +1 known missense c.2056 p.V686I 1.000 pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRE HGNC ENSG00000132334 81 0 0 31 11 26.1905 MCM10 0 genome.wustl.edu 37 10 13213034 13213034 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 13213034 13213034 C T SNP MCM10 ENST00000484800 human ensembl 74_37 +1 known silent c.120 p.D40 0.006 NULL pfam_Rep_factor_Mcm10,pfam_Znf_Mcm10/DnaG - no_errors MCM10 HGNC ENSG00000065328 265 0 0 201 31 13.3621 MCM10 0 genome.wustl.edu 37 10 13222486 13222486 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 13222486 13222486 G A SNP MCM10 ENST00000484800 human ensembl 74_37 +1 known missense c.812 p.G271D 1.000 NULL pfam_Rep_factor_Mcm10,pfam_Znf_Mcm10/DnaG - no_errors MCM10 HGNC ENSG00000065328 124 0 0 65 26 28.5714 FRMD4A 0 genome.wustl.edu 37 10 13824973 13824973 + Silent SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 13824973 13824973 A G SNP FRMD4A ENST00000357447 human ensembl 74_37 -1 known silent c.333 p.D111 0.884 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4A HGNC ENSG00000151474 215 1 0.462963 142 41 22.4044 ST8SIA6 0 genome.wustl.edu 37 10 17495589 17495589 + Missense_Mutation SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 17495589 17495589 G T SNP ST8SIA6 ENST00000377602 human ensembl 74_37 -1 known missense c.169 p.P57T 0.010 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA6 HGNC ENSG00000148488 24 0 0 8 3 27.2727 NEBL 0 genome.wustl.edu 37 10 21157652 21157652 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 21157652 21157652 C T SNP NEBL ENST00000377122 human ensembl 74_37 -1 known missense c.625 p.A209T 0.860 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors NEBL HGNC ENSG00000078114 136 1 0.729927 106 24 18.4615 LRRC37A6P 0 genome.wustl.edu 37 10 27537926 27537926 + RNA SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 27537926 27537926 G T SNP LRRC37A6P ENST00000284414 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors LRRC37A6P HGNC ENSG00000230445 184 0 0 100 17 14.5299 ARMC4 0 genome.wustl.edu 37 10 28283978 28283978 + Nonsense_Mutation SNP T T A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 28283978 28283978 T A SNP ARMC4 ENST00000305242 human ensembl 74_37 -1 known nonsense c.94 p.K32* 0.943 NULL pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ENSG00000169126 91 0 0 58 5 7.93651 SVIL 0 genome.wustl.edu 37 10 29813608 29813608 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 29813608 29813608 C A SNP SVIL ENST00000355867 human ensembl 74_37 -1 known missense c.2379 p.K793N 0.985 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors SVIL HGNC ENSG00000197321 200 0 0 145 49 25.2577 SVIL 0 genome.wustl.edu 37 10 29821018 29821018 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 29821018 29821018 C T SNP SVIL ENST00000355867 human ensembl 74_37 -1 known missense c.1922 p.R641H 1.000 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors SVIL HGNC ENSG00000197321 129 0 0 95 7 6.86275 PFKP 0 genome.wustl.edu 37 10 3151612 3151612 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 3151612 3151612 C T SNP PFKP ENST00000381125 human ensembl 74_37 +1 known silent c.1029 p.C343 0.996 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 46 0 0 26 6 18.75 ENSG00000264248 0 genome.wustl.edu 37 10 323220 323220 + RNA SNP A A C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 323220 323220 A C SNP ENSG00000264248 ENST00000579524 human ensembl 74_37 +1 novel rna NULL NULL 0.000 - - - no_errors AL603831.1 Clone_based_ensembl_gene ENSG00000264248 62 0 0 41 18 30.5085 HNRNPF 0 genome.wustl.edu 37 10 43882892 43882892 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 43882892 43882892 G A SNP HNRNPF ENST00000337970 human ensembl 74_37 -1 known silent c.441 p.P147 0.958 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPF HGNC ENSG00000169813 157 0 0 114 29 20.2797 RBP3 0 genome.wustl.edu 37 10 48389461 48389461 + Missense_Mutation SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 48389461 48389461 G T SNP RBP3 ENST00000224600 human ensembl 74_37 -1 known missense c.1417 p.H473N 1.000 pfam_Interphotoreceptor_retinol-bd,smart_Interphotoreceptor_retinol-bd pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd - no_errors RBP3 HGNC ENSG00000107618 62 0 0 34 7 17.0732 ERCC6 0 genome.wustl.edu 37 10 50740814 50740814 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 50740814 50740814 G A SNP ERCC6 ENST00000355832 human ensembl 74_37 -1 known missense c.197 p.P66L 0.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 117 1 0.847458 69 19 21.5909 AKR1C4 0 genome.wustl.edu 37 10 5255081 5255081 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 5255081 5255081 G A SNP AKR1C4 ENST00000263126 human ensembl 74_37 +1 known missense c.805 p.A269T 0.990 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1C4 HGNC ENSG00000198610 91 0 0 56 6 9.67742 TUBAL3 0 genome.wustl.edu 37 10 5436175 5436175 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 5436175 5436175 C T SNP TUBAL3 ENST00000380419 human ensembl 74_37 -1 known missense c.646 p.V216I 0.780 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Delta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBAL3 HGNC ENSG00000178462 96 0 0 61 11 15.2778 PCDH15 0 genome.wustl.edu 37 10 55581693 55581693 + Missense_Mutation SNP T T G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 55581693 55581693 T G SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.5793 p.E1931D 0.894 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 103 0 0 84 20 19.2308 CCDC6 0 genome.wustl.edu 37 10 61665922 61665922 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 61665922 61665922 C T SNP CCDC6 ENST00000263102 human ensembl 74_37 -1 known silent c.261 p.L87 1.000 pfam_DUF2046 pfam_DUF2046 - no_errors CCDC6 HGNC ENSG00000108091 137 0 0 81 19 19 SLC25A16 0 genome.wustl.edu 37 10 70263442 70263442 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 70263442 70263442 G A SNP SLC25A16 ENST00000609923 human ensembl 74_37 -1 known missense c.368 p.T123M 0.973 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,prints_Graves_DC pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Graves_DC,prints_Mit_carrier - no_errors SLC25A16 HGNC ENSG00000122912 117 1 0.847458 92 26 22.0339 KIAA1279 0 genome.wustl.edu 37 10 70748821 70748821 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 70748821 70748821 C T SNP KIAA1279 ENST00000361983 human ensembl 74_37 +1 known missense c.233 p.A78V 0.047 NULL pfam_KBP - no_errors KIAA1279 HGNC ENSG00000198954 54 0 0 59 10 14.4928 ADAMTS14 0 genome.wustl.edu 37 10 72511376 72511376 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 72511376 72511376 C T SNP ADAMTS14 ENST00000373208 human ensembl 74_37 +1 known missense c.2579 p.A860V 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,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 ADAMTS14 HGNC ENSG00000138316 99 0 0 64 7 9.85915 PCBD1 0 genome.wustl.edu 37 10 72645663 72645663 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 72645663 72645663 G A SNP PCBD1 ENST00000299299 human ensembl 74_37 -1 known silent c.27 p.S9 0.300 pfam_Trans/pterin_deHydtase,superfamily_Trans/pterin_deHydtase pfam_Trans/pterin_deHydtase,superfamily_Trans/pterin_deHydtase - no_errors PCBD1 HGNC ENSG00000166228 53 0 0 32 5 13.5135 SLC29A3 0 genome.wustl.edu 37 10 73082600 73082600 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 73082600 73082600 C T SNP SLC29A3 ENST00000373189 human ensembl 74_37 +1 known missense c.89 p.A30V 0.086 NULL pfam_Eqnu_transpt,prints_Eqnu_transpt - no_errors SLC29A3 HGNC ENSG00000198246 197 0 0 126 18 12.5 DUSP13 0 genome.wustl.edu 37 10 76855374 76855374 + Missense_Mutation SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 76855374 76855374 G T SNP DUSP13 ENST00000491677 human ensembl 74_37 -1 known missense c.740 p.P247H 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP13 HGNC ENSG00000079393 128 0 0 88 12 12 ZNF503 0 genome.wustl.edu 37 10 77158710 77158710 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 77158710 77158710 C T SNP ZNF503 ENST00000372524 human ensembl 74_37 -1 known missense c.1738 p.A580T 0.996 NULL pfam_Tscrpt_rep_NocA-like,pfscan_Znf_C2H2 - no_errors ZNF503 HGNC ENSG00000165655 31 0 0 15 3 16.6667 ZNF503 0 genome.wustl.edu 37 10 77159254 77159254 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 77159254 77159254 C T SNP ZNF503 ENST00000372524 human ensembl 74_37 -1 known silent c.1194 p.A398 0.995 pfam_Tscrpt_rep_NocA-like pfam_Tscrpt_rep_NocA-like,pfscan_Znf_C2H2 - no_errors ZNF503 HGNC ENSG00000165655 20 0 0 11 3 21.4286 GATA3 0 genome.wustl.edu 37 10 8106092 8106092 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 8106092 8106092 G A SNP GATA3 ENST00000379328 human ensembl 74_37 +1 known silent c.915 p.K305 1.000 smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 145 0 0 108 16 12.9032 LRIT1 0 genome.wustl.edu 37 10 85997212 85997212 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 85997212 85997212 C T SNP LRIT1 ENST00000372105 human ensembl 74_37 -1 known missense c.353 p.R118H 0.987 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRIT1 HGNC ENSG00000148602 10 0 0 8 5 38.4615 MMRN2 0 genome.wustl.edu 37 10 88702910 88702910 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 88702910 88702910 G A SNP MMRN2 ENST00000372027 human ensembl 74_37 -1 known missense c.1631 p.S544L 0.003 superfamily_tRNA-bd_arm pfam_C1q,pfam_EMI_domain,superfamily_Tumour_necrosis_fac-like_dom,superfamily_tRNA-bd_arm,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors MMRN2 HGNC ENSG00000173269 28 0 0 21 4 16 CYP26A1 0 genome.wustl.edu 37 10 94834065 94834065 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 94834065 94834065 C T SNP CYP26A1 ENST00000224356 human ensembl 74_37 +1 known missense c.190 p.R64W 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP26A1 HGNC ENSG00000095596 80 0 0 34 11 24.4444 CYP26A1 0 genome.wustl.edu 37 10 94834777 94834777 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 94834777 94834777 G A SNP CYP26A1 ENST00000224356 human ensembl 74_37 +1 known missense c.656 p.R219H 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP26A1 HGNC ENSG00000095596 111 1 0.892857 78 7 8.23529 PLCE1 0 genome.wustl.edu 37 10 96005982 96005982 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 96005982 96005982 C T SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known silent c.2700 p.S900 0.934 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 85 0 0 41 11 21.1538 CYP2C19 0 genome.wustl.edu 37 10 96535246 96535246 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 96535246 96535246 G A SNP CYP2C19 ENST00000371321 human ensembl 74_37 +1 known missense c.431 p.R144H 0.699 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C19 HGNC ENSG00000165841 211 0 0 141 16 10.1911 MUC6 0 genome.wustl.edu 37 11 1017296 1017296 + Silent SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 1017296 1017296 T C SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known silent c.5505 p.T1835 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 1067 1 0.093633 858 46 5.0885 CUL5 0 genome.wustl.edu 37 11 107920713 107920713 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 107920713 107920713 T C SNP CUL5 ENST00000393094 human ensembl 74_37 +1 known missense c.331 p.F111L 1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL5 HGNC ENSG00000166266 92 0 0 81 12 12.9032 ACAT1 0 genome.wustl.edu 37 11 108017007 108017007 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 108017007 108017007 G A SNP ACAT1 ENST00000265838 human ensembl 74_37 +1 known missense c.1084 p.A362T 1.000 pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase - no_errors ACAT1 HGNC ENSG00000075239 177 0 0 115 14 10.8527 MUC2 0 genome.wustl.edu 37 11 1086062 1086062 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 1086062 1086062 G A SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known missense c.2902 p.V968I 0.001 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 42 0 0 36 3 7.69231 ZC3H12C 0 genome.wustl.edu 37 11 110035243 110035243 + Missense_Mutation SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 110035243 110035243 G T SNP ZC3H12C ENST00000278590 human ensembl 74_37 +1 known missense c.1433 p.S478I 0.995 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12C HGNC ENSG00000149289 97 0 0 53 4 7.01754 ANKK1 0 genome.wustl.edu 37 11 113268037 113268037 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 113268037 113268037 C T SNP ANKK1 ENST00000303941 human ensembl 74_37 +1 known silent c.930 p.C310 0.004 NULL pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors ANKK1 HGNC ENSG00000170209 66 0 0 36 8 18.1818 ANKK1 0 genome.wustl.edu 37 11 113270600 113270600 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 113270600 113270600 G A SNP ANKK1 ENST00000303941 human ensembl 74_37 +1 known missense c.1909 p.G637R 0.007 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors ANKK1 HGNC ENSG00000170209 34 0 0 25 3 10.7143 HYOU1 0 genome.wustl.edu 37 11 118919979 118919979 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 118919979 118919979 C A SNP HYOU1 ENST00000543287 human ensembl 74_37 -1 known missense c.1649 p.R550L 0.000 NULL pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HYOU1 HGNC ENSG00000149428 23 0 0 17 3 15 VPS11 0 genome.wustl.edu 37 11 118941055 118941055 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 118941055 118941055 G A SNP VPS11 ENST00000300793 human ensembl 74_37 +1 known missense c.581 p.R194H 1.000 superfamily_WD40_repeat_dom,pirsf_VPS11 pfam_VPS11_C,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_RING,pirsf_VPS11,pfscan_Znf_RING - no_errors VPS11 HGNC ENSG00000160695 27 0 0 14 11 44 THY1 0 genome.wustl.edu 37 11 119291018 119291018 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 119291018 119291018 C T SNP THY1 ENST00000284240 human ensembl 74_37 -1 known missense c.116 p.R39H 1.000 pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors THY1 HGNC ENSG00000154096 127 0 0 85 27 24.1071 TRIM29 0 genome.wustl.edu 37 11 119991317 119991317 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 119991317 119991317 T C SNP TRIM29 ENST00000341846 human ensembl 74_37 -1 known missense c.1492 p.T498A 0.998 NULL pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box - no_errors TRIM29 HGNC ENSG00000137699 47 0 0 31 5 13.8889 TECTA 0 genome.wustl.edu 37 11 121016689 121016689 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 121016689 121016689 C T SNP TECTA ENST00000264037 human ensembl 74_37 +1 known silent c.3969 p.F1323 1.000 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 221 0 0 165 18 9.83607 TECTA 0 genome.wustl.edu 37 11 121037313 121037313 + Missense_Mutation SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 121037313 121037313 G T SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.5410 p.V1804L 1.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 121 0 0 79 25 24.0385 SORL1 0 genome.wustl.edu 37 11 121403215 121403215 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 121403215 121403215 G A SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known missense c.1639 p.G547R 1.000 smart_VPS10 pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 66 0 0 53 5 8.62069 SORL1 0 genome.wustl.edu 37 11 121477994 121477994 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 121477994 121477994 G A SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known missense c.5161 p.V1721I 0.164 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 48 0 0 20 7 25.9259 MUC5B 0 genome.wustl.edu 37 11 1258327 1258327 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 1258327 1258327 G A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.3239 p.R1080H 1.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 83 0 0 34 2 5.55556 CDON 0 genome.wustl.edu 37 11 125873845 125873845 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 125873845 125873845 C T SNP CDON ENST00000392693 human ensembl 74_37 -1 known missense c.1978 p.A660T 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CDON HGNC ENSG00000064309 81 0 0 63 5 7.35294 SRPR 0 genome.wustl.edu 37 11 126135224 126135224 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 126135224 126135224 C T SNP SRPR ENST00000332118 human ensembl 74_37 -1 known missense c.1250 p.R417H 1.000 pfam_ArgK,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Sig_recog_particle_rcpt_asu_N,pfam_SRP54_GTPase_dom,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom - no_errors SRPR HGNC ENSG00000182934 99 0 0 41 16 28.0702 MUC5B 0 genome.wustl.edu 37 11 1271490 1271490 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 1271490 1271490 G A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.13389 p.T4463 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 181 0 0 117 17 12.6866 NTM 0 genome.wustl.edu 37 11 132180070 132180070 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 132180070 132180070 G A SNP NTM ENST00000539799 human ensembl 74_37 +1 known silent c.726 p.Q242 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors NTM HGNC ENSG00000182667 227 0 0 147 49 25 SPON1 0 genome.wustl.edu 37 11 14156978 14156978 + RNA SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 14156978 14156978 A G SNP SPON1 ENST00000310358 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SPON1 HGNC ENSG00000152268 121 0 0 96 8 7.69231 RRAS2 0 genome.wustl.edu 37 11 14316397 14316397 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 14316397 14316397 C T SNP RRAS2 ENST00000545643 human ensembl 74_37 -1 known missense c.226 p.A76T 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,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RRAS2 HGNC ENSG00000133818 129 0 0 94 21 18.2609 PDE3B 0 genome.wustl.edu 37 11 14665715 14665715 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 14665715 14665715 G A SNP PDE3B ENST00000282096 human ensembl 74_37 +1 known missense c.94 p.V32M 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3B HGNC ENSG00000152270 28 0 0 19 3 13.6364 PDE3B 0 genome.wustl.edu 37 11 14880640 14880640 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 14880640 14880640 G A SNP PDE3B ENST00000282096 human ensembl 74_37 +1 known missense c.2572 p.A858T 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3B HGNC ENSG00000152270 109 0 0 85 7 7.6087 PIK3C2A 0 genome.wustl.edu 37 11 17115867 17115867 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 17115867 17115867 G A SNP PIK3C2A ENST00000265970 human ensembl 74_37 -1 known silent c.4392 p.D1464 0.998 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox 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_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2A HGNC ENSG00000011405 37 0 0 30 8 21.0526 CTSD 0 genome.wustl.edu 37 11 1778684 1778684 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 1778684 1778684 C T SNP CTSD ENST00000236671 human ensembl 74_37 -1 known missense c.574 p.A192T 1.000 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors CTSD HGNC ENSG00000117984 49 0 0 40 5 11.1111 SPTY2D1 0 genome.wustl.edu 37 11 18633956 18633956 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 18633956 18633956 G A SNP SPTY2D1 ENST00000336349 human ensembl 74_37 -1 known silent c.1791 p.Y597 0.996 pfam_Chromatin_SPT2,smart_Chromatin_SPT2 pfam_Chromatin_SPT2,smart_Chromatin_SPT2 - no_errors SPTY2D1 HGNC ENSG00000179119 92 0 0 56 9 13.8462 E2F8 0 genome.wustl.edu 37 11 19247354 19247354 + Nonsense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 19247354 19247354 C A SNP E2F8 ENST00000250024 human ensembl 74_37 -1 known nonsense c.1951 p.E651* 1.000 NULL pfam_E2F_TDP - no_errors E2F8 HGNC ENSG00000129173 312 0 0 197 36 15.4506 NAV2 0 genome.wustl.edu 37 11 19955143 19955143 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 19955143 19955143 C T SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known silent c.1422 p.T474 0.000 NULL pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 118 0 0 83 5 5.68182 IGF2 0 genome.wustl.edu 37 11 2156625 2156625 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 2156625 2156625 G A SNP IGF2 ENST00000434045 human ensembl 74_37 -1 known silent c.297 p.F99 0.994 pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Insulin_family,prints_Insulin-like_growth_factor pfam_IGF2_C,pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_IGF2,prints_Insulin_family,prints_Insulin-like_growth_factor - no_errors IGF2 HGNC ENSG00000167244 39 0 0 26 7 21.2121 SLC5A12 0 genome.wustl.edu 37 11 26743064 26743064 + Silent SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 26743064 26743064 C A SNP SLC5A12 ENST00000396005 human ensembl 74_37 -1 known silent c.198 p.T66 0.784 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 SLC5A12 HGNC ENSG00000148942 80 0 0 49 14 22.2222 NAT10 0 genome.wustl.edu 37 11 34165024 34165024 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 34165024 34165024 A G SNP NAT10 ENST00000257829 human ensembl 74_37 +1 known missense c.2918 p.N973S 1.000 NULL pfam_Helicase_dom,pfam_DUF1726,superfamily_Acyl_CoA_acyltransferase,superfamily_P-loop_NTPase,pfscan_GNAT_dom - no_errors NAT10 HGNC ENSG00000135372 41 0 0 23 9 28.125 FJX1 0 genome.wustl.edu 37 11 35641134 35641134 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 35641134 35641134 G A SNP FJX1 ENST00000317811 human ensembl 74_37 +1 known missense c.950 p.R317H 1.000 pfam_DUF1193 pfam_DUF1193 - no_errors FJX1 HGNC ENSG00000179431 62 0 0 46 7 13.2075 TRAF6 0 genome.wustl.edu 37 11 36511400 36511400 + Silent SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 36511400 36511400 A G SNP TRAF6 ENST00000348124 human ensembl 74_37 -1 known silent c.1557 p.D519 0.886 NULL pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF6 HGNC ENSG00000175104 205 0 0 150 30 16.6667 OR52K2 0 genome.wustl.edu 37 11 4471014 4471014 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 4471014 4471014 G A SNP OR52K2 ENST00000325719 human ensembl 74_37 +1 known missense c.445 p.A149T 0.057 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 OR52K2 HGNC ENSG00000181963 136 0 0 89 23 20.5357 F2 0 genome.wustl.edu 37 11 46747450 46747450 + Missense_Mutation SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 46747450 46747450 G T SNP F2 ENST00000311907 human ensembl 74_37 +1 known missense c.601 p.G201C 0.000 pirsf_Prothrombin/thrombin pfam_Peptidase_S1,pfam_Kringle,pfam_Thrombin_light_chain,pfam_GLA_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,superfamily_GLA_domain,smart_GLA_domain,smart_Kringle,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_GLA_domain,pfscan_Kringle,pfscan_Peptidase_S1,prints_Prothrombin/thrombin,prints_Peptidase_S1A,prints_GLA_domain - no_errors F2 HGNC ENSG00000180210 151 0 0 127 22 14.7651 MADD 0 genome.wustl.edu 37 11 47311500 47311500 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 47311500 47311500 C T SNP MADD ENST00000311027 human ensembl 74_37 +1 known missense c.2899 p.R967C 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors MADD HGNC ENSG00000110514 68 0 0 41 9 18 PTPRJ 0 genome.wustl.edu 37 11 48166268 48166268 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 48166268 48166268 G A SNP PTPRJ ENST00000418331 human ensembl 74_37 +1 known missense c.2617 p.D873N 0.980 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRJ HGNC ENSG00000149177 92 0 0 45 11 19.6429 OR4C12 0 genome.wustl.edu 37 11 50003327 50003327 + Silent SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 50003327 50003327 G T SNP OR4C12 ENST00000335238 human ensembl 74_37 -1 known silent c.711 p.T237 0.999 pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR4C12 HGNC ENSG00000221954 69 0 0 52 14 21.2121 OR51B5 0 genome.wustl.edu 37 11 5364477 5364477 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 5364477 5364477 G A SNP OR51B5 ENST00000300773 human ensembl 74_37 -1 known missense c.278 p.A93V 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51B5 HGNC ENSG00000242180 76 0 0 61 5 7.57576 TRIM48 0 genome.wustl.edu 37 11 55035844 55035844 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 55035844 55035844 T C SNP TRIM48 ENST00000417545 human ensembl 74_37 +1 known missense c.574 p.Y192H 0.183 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM48 HGNC ENSG00000150244 96 0 0 82 14 14.5833 TRIM51HP 0 genome.wustl.edu 37 11 55065040 55065040 + RNA SNP T T A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 55065040 55065040 T A SNP TRIM51HP ENST00000526016 human ensembl 74_37 -1 putative rna NULL NULL 0.004 - - - no_errors TRIM51HP HGNC ENSG00000166007 61 0 0 35 12 25.5319 OR4C16 0 genome.wustl.edu 37 11 55339694 55339694 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 55339694 55339694 C T SNP OR4C16 ENST00000314634 human ensembl 74_37 +1 known missense c.91 p.R31C 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C16 HGNC ENSG00000181935 149 0 0 87 16 15.534 OR8I2 0 genome.wustl.edu 37 11 55860792 55860792 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 55860792 55860792 C T SNP OR8I2 ENST00000302124 human ensembl 74_37 +1 known silent c.9 p.G3 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8I2 HGNC ENSG00000172154 113 0 0 90 7 7.21649 OR52B6 0 genome.wustl.edu 37 11 5602471 5602471 + Missense_Mutation SNP T T G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 5602471 5602471 T G SNP OR52B6 ENST00000345043 human ensembl 74_37 +1 known missense c.365 p.F122C 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52B6 HGNC ENSG00000187747 108 0 0 77 18 18.9474 OR8J1 0 genome.wustl.edu 37 11 56128400 56128400 + Silent SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 56128400 56128400 A G SNP OR8J1 ENST00000303039 human ensembl 74_37 +1 known silent c.678 p.L226 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8J1 HGNC ENSG00000172487 81 0 0 47 12 20.339 TRIM6 0 genome.wustl.edu 37 11 5632626 5632626 + RNA SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 5632626 5632626 G T SNP TRIM6 ENST00000481603 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TRIM6 HGNC ENSG00000121236 64 0 0 41 12 22.6415 OR5AR1 0 genome.wustl.edu 37 11 56431207 56431207 + Missense_Mutation SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 56431207 56431207 G T SNP OR5AR1 ENST00000302969 human ensembl 74_37 +1 known missense c.46 p.G16C 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AR1 HGNC ENSG00000172459 199 0 0 144 32 18.1818 OR5AR1 0 genome.wustl.edu 37 11 56431861 56431861 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 56431861 56431861 C T SNP OR5AR1 ENST00000302969 human ensembl 74_37 +1 known missense c.700 p.R234C 0.007 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AR1 HGNC ENSG00000172459 116 0 0 88 21 19.2661 P2RX3 0 genome.wustl.edu 37 11 57135559 57135559 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 57135559 57135559 G A SNP P2RX3 ENST00000263314 human ensembl 74_37 +1 known missense c.919 p.V307M 0.999 pfam_P2X_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X3_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX3 HGNC ENSG00000109991 72 0 0 46 19 29.2308 RTN4RL2 0 genome.wustl.edu 37 11 57243698 57243698 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 57243698 57243698 C T SNP RTN4RL2 ENST00000335099 human ensembl 74_37 +1 known silent c.577 p.L193 0.998 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors RTN4RL2 HGNC ENSG00000186907 139 0 0 102 11 9.73451 OR5B21 0 genome.wustl.edu 37 11 58275342 58275342 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 58275342 58275342 C T SNP OR5B21 ENST00000360374 human ensembl 74_37 -1 known silent c.237 p.T79 0.374 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5B21 HGNC ENSG00000198283 63 0 0 37 9 19.5652 TMEM109 0 genome.wustl.edu 37 11 60689494 60689494 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 60689494 60689494 G A SNP TMEM109 ENST00000227525 human ensembl 74_37 +1 known missense c.589 p.A197T 0.998 NULL NULL - no_errors TMEM109 HGNC ENSG00000110108 118 0 0 57 15 20.8333 DAGLA 0 genome.wustl.edu 37 11 61498870 61498870 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 61498870 61498870 C T SNP DAGLA ENST00000257215 human ensembl 74_37 +1 known missense c.931 p.R311W 1.000 NULL pfam_Lipase_3 - no_errors DAGLA HGNC ENSG00000134780 172 1 0.578035 151 8 5.03145 INCENP 0 genome.wustl.edu 37 11 61916012 61916012 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 61916012 61916012 G A SNP INCENP ENST00000394818 human ensembl 74_37 +1 known missense c.2269 p.E757K 1.000 NULL pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd - no_errors INCENP HGNC ENSG00000149503 16 0 0 19 3 13.6364 AHNAK 0 genome.wustl.edu 37 11 62290571 62290571 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 62290571 62290571 T C SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.11318 p.D3773G 0.972 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 262 0 0 203 20 8.96861 AHNAK 0 genome.wustl.edu 37 11 62290971 62290971 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 62290971 62290971 C T SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.10918 p.V3640I 1.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 341 0 0 255 14 5.20446 EEF1G 0 genome.wustl.edu 37 11 62327804 62327804 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 62327804 62327804 C T SNP EEF1G ENST00000378019 human ensembl 74_37 -1 known missense c.1130 p.R377H 1.000 pfam_Transl_elong_EF1_G_con,superfamily_Transl_elong_EF1_G_con,pfscan_Transl_elong_EF1_G_con pfam_Transl_elong_EF1_G_con,pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Transl_elong_EF1_G_con,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,pfscan_Transl_elong_EF1_G_con - no_errors EEF1G HGNC ENSG00000254772 28 0 0 14 8 36.3636 ROM1 0 genome.wustl.edu 37 11 62381147 62381147 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 62381147 62381147 G A SNP ROM1 ENST00000278833 human ensembl 74_37 +1 known missense c.394 p.A132T 0.850 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Peripherin/rom-1 - no_errors ROM1 HGNC ENSG00000149489 83 0 0 48 13 21.3115 GANAB 0 genome.wustl.edu 37 11 62397734 62397734 + Missense_Mutation SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 62397734 62397734 G T SNP GANAB ENST00000346178 human ensembl 74_37 -1 known missense c.1594 p.P532T 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom - no_errors GANAB HGNC ENSG00000089597 33 0 0 18 2 10 CNGA4 0 genome.wustl.edu 37 11 6265356 6265356 + Missense_Mutation SNP C C G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 6265356 6265356 C G SNP CNGA4 ENST00000379936 human ensembl 74_37 +1 known missense c.1445 p.A482G 0.729 NULL pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA4 HGNC ENSG00000132259 100 0 0 50 18 26.4706 OTUB1 0 genome.wustl.edu 37 11 63764653 63764653 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 63764653 63764653 C T SNP OTUB1 ENST00000422031 human ensembl 74_37 +1 known silent c.666 p.R222 0.006 pfam_Peptidase_C65_otubain,pfam_OTU,pirsf_Ubiquitin_thioesterase_Otubain,pfscan_OTU pfam_Peptidase_C65_otubain,pfam_OTU,pirsf_Ubiquitin_thioesterase_Otubain,pfscan_OTU - no_errors OTUB1 HGNC ENSG00000167770 198 0 0 153 13 7.83133 PYGM 0 genome.wustl.edu 37 11 64522266 64522266 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 64522266 64522266 C T SNP PYGM ENST00000164139 human ensembl 74_37 -1 known missense c.898 p.V300M 1.000 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGM HGNC ENSG00000068976 43 0 0 28 11 28.2051 SPDYC 0 genome.wustl.edu 37 11 64940678 64940678 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 64940678 64940678 C A SNP SPDYC ENST00000377185 human ensembl 74_37 +1 known missense c.872 p.P291H 0.005 NULL pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYC HGNC ENSG00000204710 80 0 0 62 9 12.6761 TIGD3 0 genome.wustl.edu 37 11 65124594 65124594 + Missense_Mutation SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 65124594 65124594 G T SNP TIGD3 ENST00000309880 human ensembl 74_37 +1 known missense c.1315 p.G439C 1.000 NULL pfam_HTH_CenpB_DNA-bd_dom,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD3 HGNC ENSG00000173825 118 0 0 84 8 8.69565 AP5B1 0 genome.wustl.edu 37 11 65547054 65547054 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 65547054 65547054 G A SNP AP5B1 ENST00000532090 human ensembl 74_37 -1 novel missense c.910 p.P304S 1.000 NULL NULL - no_errors AP5B1 HGNC ENSG00000254470 37 0 0 15 4 21.0526 SF3B2 0 genome.wustl.edu 37 11 65826406 65826406 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 65826406 65826406 C T SNP SF3B2 ENST00000322535 human ensembl 74_37 +1 known missense c.1072 p.R358C 0.627 NULL pfam_DUF382,pfam_PSP,pfam_SAP_dom,smart_SAP_dom,smart_PSP,pfscan_SAP_dom - no_errors SF3B2 HGNC ENSG00000087365 108 0 0 72 12 14.2857 CD248 0 genome.wustl.edu 37 11 66082358 66082358 + Missense_Mutation SNP C C G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 66082358 66082358 C G SNP CD248 ENST00000311330 human ensembl 74_37 -1 known missense c.2141 p.G714A 1.000 NULL pfam_C-type_lectin,pfam_EGF-like_Ca-bd_dom,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_C-type_lectin - no_errors CD248 HGNC ENSG00000174807 22 0 0 12 3 20 RBM4 0 genome.wustl.edu 37 11 66410970 66410970 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 66410970 66410970 C T SNP RBM4 ENST00000310092 human ensembl 74_37 +1 known silent c.462 p.P154 1.000 NULL pfam_RRM_dom,pfam_Znf_CCHC,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom - no_errors RBM4 HGNC ENSG00000173933 119 0 0 67 11 14.1026 ANKRD13D 0 genome.wustl.edu 37 11 67059639 67059639 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 67059639 67059639 T C SNP ANKRD13D ENST00000511455 human ensembl 74_37 +1 known missense c.719 p.V240A 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 ANKRD13D HGNC ENSG00000172932 92 0 0 70 16 18.6047 PTPRCAP 0 genome.wustl.edu 37 11 67203227 67203227 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 67203227 67203227 C A SNP PTPRCAP ENST00000326294 human ensembl 74_37 -1 known missense c.598 p.G200C 1.000 pirsf_Tyr_Pase_rcpt_C-assoc_CD45-AP pirsf_Tyr_Pase_rcpt_C-assoc_CD45-AP - no_errors PTPRCAP HGNC ENSG00000213402 45 0 0 30 5 14.2857 IGHMBP2 0 genome.wustl.edu 37 11 68675625 68675625 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 68675625 68675625 G A SNP IGHMBP2 ENST00000255078 human ensembl 74_37 +1 known missense c.269 p.G90D 1.000 tigrfam_DNA_helicase_put pfam_R3H_ss-bd,pfam_Znf_AN1,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_R3H_ss-bd,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_R3H_ss-bd,tigrfam_DNA_helicase_put - no_errors IGHMBP2 HGNC ENSG00000132740 216 0 0 177 19 9.69388 IGHMBP2 0 genome.wustl.edu 37 11 68679004 68679004 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 68679004 68679004 C A SNP IGHMBP2 ENST00000255078 human ensembl 74_37 +1 known missense c.644 p.P215H 1.000 pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,tigrfam_DNA_helicase_put pfam_R3H_ss-bd,pfam_Znf_AN1,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_R3H_ss-bd,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_R3H_ss-bd,tigrfam_DNA_helicase_put - no_errors IGHMBP2 HGNC ENSG00000132740 102 0 0 70 7 9.09091 TPCN2 0 genome.wustl.edu 37 11 68854605 68854605 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 68854605 68854605 G A SNP TPCN2 ENST00000294309 human ensembl 74_37 +1 known missense c.2111 p.R704H 0.534 NULL pfam_Ion_trans_dom - no_errors TPCN2 HGNC ENSG00000162341 71 0 0 47 5 9.61538 OR10A4 0 genome.wustl.edu 37 11 6898745 6898745 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 6898745 6898745 C T SNP OR10A4 ENST00000379829 human ensembl 74_37 +1 known silent c.867 p.I289 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A4 HGNC ENSG00000170782 183 0 0 114 19 14.2857 ANO1 0 genome.wustl.edu 37 11 70007369 70007369 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 70007369 70007369 C T SNP ANO1 ENST00000355303 human ensembl 74_37 +1 known missense c.1681 p.R561W 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO1 HGNC ENSG00000131620 97 0 0 76 9 10.5882 SHANK2 0 genome.wustl.edu 37 11 70319246 70319246 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 70319246 70319246 G A SNP SHANK2 ENST00000338508 human ensembl 74_37 -1 known missense c.5281 p.R1761C 0.987 NULL pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK2 HGNC ENSG00000162105 158 0 0 89 24 21.2389 KRTAP5-8 0 genome.wustl.edu 37 11 71249434 71249434 + Silent SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 71249434 71249434 A G SNP KRTAP5-8 ENST00000398534 human ensembl 74_37 +1 known silent c.333 p.K111 0.000 NULL NULL - no_errors KRTAP5-8 HGNC ENSG00000241233 450 1 0.221729 240 18 6.97674 DEFB108B 0 genome.wustl.edu 37 11 71548614 71548614 + RNA SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 71548614 71548614 G A SNP DEFB108B ENST00000529157 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors DEFB108B HGNC ENSG00000184276 140 0 0 103 16 13.4454 ARHGEF17 0 genome.wustl.edu 37 11 73068356 73068356 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 73068356 73068356 C T SNP ARHGEF17 ENST00000263674 human ensembl 74_37 +1 known silent c.4071 p.D1357 0.273 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF17 HGNC ENSG00000110237 48 0 0 18 4 18.1818 OR5P3 0 genome.wustl.edu 37 11 7847470 7847470 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 7847470 7847470 A G SNP OR5P3 ENST00000328375 human ensembl 74_37 -1 known missense c.50 p.L17S 0.025 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5P3 HGNC ENSG00000182334 74 0 0 47 11 18.9655 SYTL2 0 genome.wustl.edu 37 11 85445200 85445200 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 85445200 85445200 G A SNP SYTL2 ENST00000316356 human ensembl 74_37 -1 known missense c.1172 p.S391L 0.000 NULL pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ - no_errors SYTL2 HGNC ENSG00000137501 162 0 0 105 17 13.9344 ST5 0 genome.wustl.edu 37 11 8752324 8752324 + Nonsense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 8752324 8752324 C T SNP ST5 ENST00000313726 human ensembl 74_37 -1 known nonsense c.513 p.W171* 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors ST5 HGNC ENSG00000166444 84 0 0 51 9 15 ST5 0 genome.wustl.edu 37 11 8752514 8752514 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 8752514 8752514 G A SNP ST5 ENST00000313726 human ensembl 74_37 -1 known missense c.323 p.A108V 0.784 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors ST5 HGNC ENSG00000166444 149 0 0 108 10 8.47458 GRM5 0 genome.wustl.edu 37 11 88386441 88386441 + Missense_Mutation SNP T T G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 88386441 88386441 T G SNP GRM5 ENST00000305447 human ensembl 74_37 -1 known missense c.1042 p.T348P 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C - no_errors GRM5 HGNC ENSG00000168959 101 0 0 69 11 13.75 ASCL3 0 genome.wustl.edu 37 11 8959358 8959358 + Silent SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 8959358 8959358 G T SNP ASCL3 ENST00000325884 human ensembl 74_37 -1 known silent c.351 p.R117 0.014 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 ASCL3 HGNC ENSG00000176009 104 0 0 81 17 17.3469 MAML2 0 genome.wustl.edu 37 11 95712334 95712334 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 95712334 95712334 C T SNP MAML2 ENST00000524717 human ensembl 74_37 -1 known silent c.3249 p.T1083 0.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC ENSG00000184384 86 0 0 59 9 13.2353 CNTN5 0 genome.wustl.edu 37 11 99827584 99827584 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 99827584 99827584 G A SNP CNTN5 ENST00000279463 human ensembl 74_37 +1 known silent c.720 p.A240 0.174 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,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 CNTN5 HGNC ENSG00000149972 102 1 0.970874 62 16 20.5128 CLEC12A 0 genome.wustl.edu 37 12 10137481 10137481 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 10137481 10137481 C T SNP CLEC12A ENST00000355690 human ensembl 74_37 +1 known silent c.684 p.N228 0.001 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 - no_errors CLEC12A HGNC ENSG00000172322 22 0 0 16 4 20 SLC5A8 0 genome.wustl.edu 37 12 101581230 101581230 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 101581230 101581230 G A SNP SLC5A8 ENST00000536262 human ensembl 74_37 -1 known silent c.897 p.L299 0.880 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 SLC5A8 HGNC ENSG00000256870 76 0 0 64 5 7.24638 IGF1 0 genome.wustl.edu 37 12 102811676 102811676 + Missense_Mutation SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 102811676 102811676 G T SNP IGF1 ENST00000307046 human ensembl 74_37 -1 known missense c.508 p.Q170K 1.000 NULL pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_IGF-I,prints_Insulin_family,prints_Insulin-like_growth_factor - no_errors IGF1 HGNC ENSG00000017427 471 0 0 321 37 10.3352 STAB2 0 genome.wustl.edu 37 12 104049047 104049047 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 104049047 104049047 C T SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known silent c.1570 p.L524 1.000 pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 124 0 0 82 13 13.6842 EID3 0 genome.wustl.edu 37 12 104698101 104698101 + Missense_Mutation SNP A A T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 104698101 104698101 A T SNP EID3 ENST00000527879 human ensembl 74_37 +1 known missense c.389 p.N130I 0.001 pfam_Nse4_C pfam_Nse4_C - no_errors EID3 HGNC ENSG00000255150 295 0 0 212 38 15.2 CRY1 0 genome.wustl.edu 37 12 107393779 107393779 + Nonsense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 107393779 107393779 G A SNP CRY1 ENST00000008527 human ensembl 74_37 -1 known nonsense c.766 p.R256* 1.000 pfam_Photolyase_FAD-bd/Cryptochr_C,superfamily_Photolyase_FAD-bd/Cryptochr_C pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_DNA_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_DNA_photolyase_N - no_errors CRY1 HGNC ENSG00000008405 69 0 0 43 7 14 SSH1 0 genome.wustl.edu 37 12 109210869 109210869 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 109210869 109210869 G A SNP SSH1 ENST00000326495 human ensembl 74_37 -1 known missense c.346 p.R116C 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH1 HGNC ENSG00000084112 141 0 0 116 36 23.6842 ACACB 0 genome.wustl.edu 37 12 109704119 109704119 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 109704119 109704119 G A SNP ACACB ENST00000338432 human ensembl 74_37 +1 known silent c.7329 p.A2443 0.968 NULL pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 82 0 0 47 21 30.8824 UBE3B 0 genome.wustl.edu 37 12 109948193 109948193 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 109948193 109948193 G A SNP UBE3B ENST00000342494 human ensembl 74_37 +1 known missense c.1786 p.G596R 1.000 NULL pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3B HGNC ENSG00000151148 30 0 0 24 11 31.4286 ATP2A2 0 genome.wustl.edu 37 12 110770466 110770466 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 110770466 110770466 C T SNP ATP2A2 ENST00000539276 human ensembl 74_37 +1 known missense c.1160 p.S387L 1.000 superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Ca-transp_IIA pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2A2 HGNC ENSG00000174437 198 0 0 155 39 20.1031 PPP1CC 0 genome.wustl.edu 37 12 111168366 111168366 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 111168366 111168366 C T SNP PPP1CC ENST00000340766 human ensembl 74_37 -1 known missense c.386 p.S129N 1.000 pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP1CC HGNC ENSG00000186298 91 0 0 89 5 5.31915 CUX2 0 genome.wustl.edu 37 12 111758403 111758403 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 111758403 111758403 C T SNP CUX2 ENST00000261726 human ensembl 74_37 +1 known missense c.2590 p.R864W 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC ENSG00000111249 20 0 0 6 4 40 CUX2 0 genome.wustl.edu 37 12 111785628 111785628 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 111785628 111785628 G A SNP CUX2 ENST00000261726 human ensembl 74_37 +1 known silent c.3960 p.E1320 0.488 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC ENSG00000111249 125 1 0.793651 77 18 18.9474 CCDC60 0 genome.wustl.edu 37 12 119773055 119773055 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 119773055 119773055 C T SNP CCDC60 ENST00000327554 human ensembl 74_37 +1 known missense c.74 p.S25L 0.019 NULL NULL - no_errors CCDC60 HGNC ENSG00000183273 150 0 0 117 8 6.4 RAB35 0 genome.wustl.edu 37 12 120546244 120546244 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 120546244 120546244 C T SNP RAB35 ENST00000229340 human ensembl 74_37 -1 known missense c.80 p.R27H 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB35 HGNC ENSG00000111737 83 0 0 46 10 17.8571 CABP1 0 genome.wustl.edu 37 12 121093979 121093979 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 121093979 121093979 G A SNP CABP1 ENST00000288616 human ensembl 74_37 +1 known silent c.129 p.P43 0.929 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CABP1 HGNC ENSG00000157782 63 0 0 32 5 13.5135 MORN3 0 genome.wustl.edu 37 12 122107269 122107269 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 122107269 122107269 C T SNP MORN3 ENST00000355329 human ensembl 74_37 -1 known missense c.121 p.E41K 1.000 pfam_MORN,smart_MORN pfam_MORN,smart_MORN - no_errors MORN3 HGNC ENSG00000139714 151 0 0 114 23 16.7883 GLT1D1 0 genome.wustl.edu 37 12 129442187 129442187 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 129442187 129442187 A G SNP GLT1D1 ENST00000442111 human ensembl 74_37 +1 known missense c.878 p.Q293R 1.000 pfam_Glyco_trans_1 pfam_Glyco_trans_1 - no_errors GLT1D1 HGNC ENSG00000151948 58 0 0 30 12 28.5714 ULK1 0 genome.wustl.edu 37 12 132405879 132405879 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 132405879 132405879 G A SNP ULK1 ENST00000321867 human ensembl 74_37 +1 known silent c.3126 p.S1042 0.042 pfam_Ser/Thr_kinase_C,pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK1 HGNC ENSG00000177169 231 0 0 189 26 12.093 PUS1 0 genome.wustl.edu 37 12 132426054 132426054 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 132426054 132426054 G A SNP PUS1 ENST00000376649 human ensembl 74_37 +1 known silent c.762 p.P254 0.000 pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_TruA pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_TruA - no_errors PUS1 HGNC ENSG00000177192 104 0 0 54 20 27.027 NOC4L 0 genome.wustl.edu 37 12 132632289 132632289 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 132632289 132632289 G A SNP NOC4L ENST00000330579 human ensembl 74_37 +1 known missense c.565 p.V189M 0.000 superfamily_ARM-type_fold pfam_CCAAT-binding_factor,superfamily_ARM-type_fold - no_errors NOC4L HGNC ENSG00000184967 144 0 0 97 9 8.49057 PLEKHA5 0 genome.wustl.edu 37 12 19522684 19522684 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 19522684 19522684 C T SNP PLEKHA5 ENST00000317589 human ensembl 74_37 +1 known missense c.3503 p.P1168L 0.991 NULL pfam_Pleckstrin_homology,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA5 HGNC ENSG00000052126 65 0 0 69 12 14.8148 SLCO1B1 0 genome.wustl.edu 37 12 21325632 21325632 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 21325632 21325632 G A SNP SLCO1B1 ENST00000256958 human ensembl 74_37 +1 known missense c.133 p.A45T 0.100 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B1 HGNC ENSG00000134538 84 0 0 58 21 26.5823 PYROXD1 0 genome.wustl.edu 37 12 21602582 21602582 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 21602582 21602582 G A SNP PYROXD1 ENST00000240651 human ensembl 74_37 +1 known missense c.371 p.G124E 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase - no_errors PYROXD1 HGNC ENSG00000121350 33 0 0 35 7 16.6667 ASUN 0 genome.wustl.edu 37 12 27075620 27075620 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 27075620 27075620 G A SNP ASUN ENST00000261191 human ensembl 74_37 -1 known missense c.818 p.A273V 1.000 pfam_Cell_cycle_regulator_Mat89Bb pfam_Cell_cycle_regulator_Mat89Bb - no_errors ASUN HGNC ENSG00000064102 70 0 0 41 7 14.5833 CNTN1 0 genome.wustl.edu 37 12 41327522 41327522 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 41327522 41327522 G A SNP CNTN1 ENST00000347616 human ensembl 74_37 +1 known missense c.827 p.R276Q 1.000 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN1 HGNC ENSG00000018236 111 0 0 90 7 7.21649 PDZRN4 0 genome.wustl.edu 37 12 41961668 41961668 + Missense_Mutation SNP A A C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 41961668 41961668 A C SNP PDZRN4 ENST00000402685 human ensembl 74_37 +1 known missense c.1551 p.E517D 1.000 NULL pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors PDZRN4 HGNC ENSG00000165966 88 0 0 71 5 6.57895 ADAMTS20 0 genome.wustl.edu 37 12 43777488 43777488 + Missense_Mutation SNP T T G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 43777488 43777488 T G SNP ADAMTS20 ENST00000389420 human ensembl 74_37 -1 known missense c.4670 p.E1557A 0.985 NULL pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 50 0 0 35 4 10.2564 ANO6 0 genome.wustl.edu 37 12 45822891 45822891 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 45822891 45822891 G A SNP ANO6 ENST00000320560 human ensembl 74_37 +1 known missense c.2530 p.V844I 0.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO6 HGNC ENSG00000177119 59 0 0 32 5 13.5135 C12orf4 0 genome.wustl.edu 37 12 4627343 4627343 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 4627343 4627343 T C SNP C12orf4 ENST00000261250 human ensembl 74_37 -1 known missense c.914 p.H305R 0.996 pfam_DUF2362 pfam_DUF2362 - no_errors C12orf4 HGNC ENSG00000047621 154 0 0 99 9 8.33333 GALNT8 0 genome.wustl.edu 37 12 4855350 4855350 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 4855350 4855350 T C SNP GALNT8 ENST00000252318 human ensembl 74_37 +1 known missense c.1099 p.F367L 0.989 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT8 HGNC ENSG00000130035 117 0 0 80 18 18.3673 KMT2D 0 genome.wustl.edu 37 12 49420273 49420273 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 49420273 49420273 C T SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.15476 p.R5159Q 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 90 0 0 52 13 20 KMT2D 0 genome.wustl.edu 37 12 49440450 49440450 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 49440450 49440450 T C SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.4360 p.T1454A 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger 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 167 0 0 82 38 31.6667 TUBA1A 0 genome.wustl.edu 37 12 49579153 49579153 + Silent SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 49579153 49579153 A G SNP TUBA1A ENST00000301071 human ensembl 74_37 -1 known silent c.996 p.I332 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Beta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA1A HGNC ENSG00000167552 134 0 0 86 22 20.3704 TROAP 0 genome.wustl.edu 37 12 49719360 49719360 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 49719360 49719360 C A SNP TROAP ENST00000257909 human ensembl 74_37 +1 known missense c.414 p.S138R 0.940 NULL NULL - no_errors TROAP HGNC ENSG00000135451 94 0 0 76 7 8.43373 MCRS1 0 genome.wustl.edu 37 12 49953241 49953241 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 49953241 49953241 G A SNP MCRS1 ENST00000357123 human ensembl 74_37 -1 known missense c.1120 p.R374C 0.070 superfamily_SMAD_FHA_domain pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MCRS1 HGNC ENSG00000187778 103 0 0 59 13 18.0556 PRPF40B 0 genome.wustl.edu 37 12 50029242 50029242 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 50029242 50029242 G A SNP PRPF40B ENST00000548825 human ensembl 74_37 +1 known missense c.1261 p.A421T 1.000 superfamily_FF_domain pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors PRPF40B HGNC ENSG00000110844 135 0 0 92 20 17.8571 KCNA5 0 genome.wustl.edu 37 12 5154557 5154557 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 5154557 5154557 G A SNP KCNA5 ENST00000252321 human ensembl 74_37 +1 known missense c.1244 p.R415H 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_K_chnl,prints_K_chnl_volt-dep_Kv pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA5 HGNC ENSG00000130037 60 0 0 45 3 6.25 CELA1 0 genome.wustl.edu 37 12 51723605 51723605 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 51723605 51723605 C T SNP CELA1 ENST00000293636 human ensembl 74_37 -1 known missense c.622 p.G208S 0.991 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors CELA1 HGNC ENSG00000139610 184 0 0 106 32 23.1884 KRT86 0 genome.wustl.edu 37 12 52695706 52695706 + Silent SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 52695706 52695706 T C SNP KRT86 ENST00000293525 human ensembl 74_37 +1 known silent c.6 p.T2 0.937 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT86 HGNC ENSG00000170442 179 1 0.555556 158 11 6.50888 KRT6A 0 genome.wustl.edu 37 12 52885416 52885416 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 52885416 52885416 C A SNP KRT6A ENST00000330722 human ensembl 74_37 -1 known missense c.645 p.E215D 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6A HGNC ENSG00000205420 177 0 0 95 35 26.9231 CSAD 0 genome.wustl.edu 37 12 53554091 53554091 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 53554091 53554091 G A SNP CSAD ENST00000267085 human ensembl 74_37 -1 known missense c.1060 p.R354C 0.969 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase - no_errors CSAD HGNC ENSG00000139631 94 0 0 72 7 8.86076 ESPL1 0 genome.wustl.edu 37 12 53677280 53677280 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 53677280 53677280 T C SNP ESPL1 ENST00000257934 human ensembl 74_37 +1 known missense c.3035 p.L1012S 1.000 NULL pfam_Peptidase_C50,superfamily_DsrEFH-like - no_errors ESPL1 HGNC ENSG00000135476 225 0 0 165 11 6.25 HNRNPA1 0 genome.wustl.edu 37 12 54676226 54676226 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 54676226 54676226 C A SNP HNRNPA1 ENST00000340913 human ensembl 74_37 +1 known missense c.539 p.A180D 1.000 pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPA1 HGNC ENSG00000135486 56 0 0 46 16 25.8065 BLOC1S1 0 genome.wustl.edu 37 12 56113373 56113373 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 56113373 56113373 C T SNP BLOC1S1 ENST00000548925 human ensembl 74_37 +1 known silent c.442 p.L148 1.000 pfam_GCN5L1 pfam_GCN5L1 - no_errors BLOC1S1 HGNC ENSG00000135441 77 0 0 52 18 25.7143 SLC39A5 0 genome.wustl.edu 37 12 56630453 56630453 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 56630453 56630453 A G SNP SLC39A5 ENST00000266980 human ensembl 74_37 +1 known missense c.1130 p.H377R 0.001 pfam_ZIP pfam_ZIP - no_errors SLC39A5 HGNC ENSG00000139540 165 0 0 106 17 13.8211 BAZ2A 0 genome.wustl.edu 37 12 56994066 56994066 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 56994066 56994066 A G SNP BAZ2A ENST00000551812 human ensembl 74_37 -1 known missense c.4817 p.L1606P 1.000 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2A HGNC ENSG00000076108 55 0 0 44 7 13.7255 GLI1 0 genome.wustl.edu 37 12 57864329 57864329 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 57864329 57864329 G A SNP GLI1 ENST00000228682 human ensembl 74_37 +1 known silent c.1806 p.S602 0.902 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI1 HGNC ENSG00000111087 83 0 0 57 22 27.8481 AVIL 0 genome.wustl.edu 37 12 58201268 58201268 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 58201268 58201268 C T SNP AVIL ENST00000257861 human ensembl 74_37 -1 known missense c.1337 p.R446H 1.000 pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors AVIL HGNC ENSG00000135407 115 0 0 96 7 6.79612 AVPR1A 0 genome.wustl.edu 37 12 63543909 63543909 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 63543909 63543909 G A SNP AVPR1A ENST00000299178 human ensembl 74_37 -1 known silent c.708 p.Y236 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_DUF1856,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_V1A_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors AVPR1A HGNC ENSG00000166148 202 1 0.492611 146 23 13.6095 TBK1 0 genome.wustl.edu 37 12 64854020 64854020 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 64854020 64854020 C T SNP TBK1 ENST00000331710 human ensembl 74_37 +1 known missense c.139 p.R47C 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TBK1 HGNC ENSG00000183735 60 0 0 67 4 5.6338 HELB 0 genome.wustl.edu 37 12 66725241 66725241 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 66725241 66725241 C T SNP HELB ENST00000247815 human ensembl 74_37 +1 known missense c.2978 p.A993V 0.000 NULL superfamily_P-loop_NTPase - no_errors HELB HGNC ENSG00000127311 91 0 0 69 10 12.6582 RAP1B 0 genome.wustl.edu 37 12 69042518 69042518 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 69042518 69042518 A G SNP RAP1B ENST00000250559 human ensembl 74_37 +1 known missense c.14 p.K5R 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,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,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAP1B HGNC ENSG00000127314 44 0 0 19 5 20.8333 GPR162 0 genome.wustl.edu 37 12 6936019 6936019 + Missense_Mutation SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 6936019 6936019 G T SNP GPR162 ENST00000311268 human ensembl 74_37 +1 known missense c.1417 p.G473C 0.999 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR162,prints_GCR_153/162 - no_errors GPR162 HGNC ENSG00000250510 151 0 0 83 26 23.8532 TPI1 0 genome.wustl.edu 37 12 6979535 6979535 + Silent SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 6979535 6979535 T C SNP TPI1 ENST00000229270 human ensembl 74_37 +1 known silent c.849 p.N283 0.997 superfamily_Triosephosphate_isomerase pfam_Triosephosphate_isomerase,superfamily_Triosephosphate_isomerase,tigrfam_Triosephosphate_isomerase - no_errors TPI1 HGNC ENSG00000111669 74 0 0 51 5 8.92857 ZFC3H1 0 genome.wustl.edu 37 12 72026000 72026000 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 72026000 72026000 C A SNP ZFC3H1 ENST00000378743 human ensembl 74_37 -1 known missense c.3112 p.G1038C 1.000 NULL pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom - no_errors ZFC3H1 HGNC ENSG00000133858 200 0 0 150 23 13.2948 CD163L1 0 genome.wustl.edu 37 12 7548698 7548698 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 7548698 7548698 G A SNP CD163L1 ENST00000313599 human ensembl 74_37 -1 known silent c.2043 p.I681 0.999 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD163L1 HGNC ENSG00000177675 33 0 0 39 4 9.30233 CD163L1 0 genome.wustl.edu 37 12 7556301 7556301 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 7556301 7556301 G A SNP CD163L1 ENST00000313599 human ensembl 74_37 -1 known missense c.1238 p.P413L 0.611 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD163L1 HGNC ENSG00000177675 169 0 0 143 18 11.1801 E2F7 0 genome.wustl.edu 37 12 77444367 77444367 + Missense_Mutation SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 77444367 77444367 G T SNP E2F7 ENST00000322886 human ensembl 74_37 -1 known missense c.527 p.A176D 1.000 pfam_E2F_TDP pfam_E2F_TDP - no_errors E2F7 HGNC ENSG00000165891 189 0 0 119 20 14.3885 SYT1 0 genome.wustl.edu 37 12 79685798 79685798 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 79685798 79685798 A G SNP SYT1 ENST00000261205 human ensembl 74_37 +1 known missense c.362 p.D121G 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT1 HGNC ENSG00000067715 87 0 0 39 5 11.3636 MYF6 0 genome.wustl.edu 37 12 81102325 81102325 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 81102325 81102325 G A SNP MYF6 ENST00000228641 human ensembl 74_37 +1 known missense c.542 p.R181H 1.000 NULL pfam_Basic,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MYF6 HGNC ENSG00000111046 141 1 0.704225 101 8 7.33945 A2M 0 genome.wustl.edu 37 12 9266084 9266084 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 9266084 9266084 A G SNP A2M ENST00000318602 human ensembl 74_37 -1 known missense c.142 p.C48R 0.982 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,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin - no_errors A2M HGNC ENSG00000175899 176 0 0 113 24 17.5182 CRADD 0 genome.wustl.edu 37 12 94243943 94243943 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 94243943 94243943 C T SNP CRADD ENST00000332896 human ensembl 74_37 +1 known missense c.496 p.R166C 0.789 pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain pfam_CARD,pfam_Death_domain,superfamily_DEATH-like_dom,smart_CARD,smart_Death_domain,pfscan_CARD,pfscan_Death_domain - no_errors CRADD HGNC ENSG00000169372 104 0 0 91 13 12.5 PLXNC1 0 genome.wustl.edu 37 12 94676091 94676091 + Nonsense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 94676091 94676091 C T SNP PLXNC1 ENST00000258526 human ensembl 74_37 +1 known nonsense c.3793 p.R1265* 0.467 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNC1 HGNC ENSG00000136040 122 0 0 85 17 16.6667 ZIC2 0 genome.wustl.edu 37 13 100634887 100634887 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 13 100634887 100634887 G A SNP ZIC2 ENST00000376335 human ensembl 74_37 +1 known missense c.569 p.R190H 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC2 HGNC ENSG00000043355 26 0 0 10 5 33.3333 NALCN 0 genome.wustl.edu 37 13 101833511 101833511 + Missense_Mutation SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 13 101833511 101833511 G T SNP NALCN ENST00000376196 human ensembl 74_37 -1 known missense c.1942 p.L648I 0.030 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 212 0 0 107 33 23.5714 NALCN 0 genome.wustl.edu 37 13 101881812 101881812 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 13 101881812 101881812 T C SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.1558 p.M520V 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 167 0 0 120 9 6.97674 NALCN 0 genome.wustl.edu 37 13 102029355 102029355 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 13 102029355 102029355 C T SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.428 p.R143Q 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 57 0 0 41 5 10.8696 MYO16 0 genome.wustl.edu 37 13 109792877 109792877 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 13 109792877 109792877 G A SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known silent c.4251 p.G1417 0.712 NULL pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 9 0 0 6 4 40 IRS2 0 genome.wustl.edu 37 13 110434417 110434417 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 13 110434417 110434417 G A SNP IRS2 ENST00000375856 human ensembl 74_37 -1 known silent c.3984 p.H1328 0.992 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS2 HGNC ENSG00000185950 49 0 0 27 4 12.9032 IRS2 0 genome.wustl.edu 37 13 110436712 110436712 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 13 110436712 110436712 C T SNP IRS2 ENST00000375856 human ensembl 74_37 -1 known silent c.1689 p.A563 0.139 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS2 HGNC ENSG00000185950 57 0 0 37 5 11.9048 COL4A1 0 genome.wustl.edu 37 13 110814631 110814631 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 13 110814631 110814631 C T SNP COL4A1 ENST00000375820 human ensembl 74_37 -1 known missense c.4408 p.G1470R 1.000 pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 461 0 0 276 71 20.4611 COL4A1 0 genome.wustl.edu 37 13 110835356 110835356 + Silent SNP C C G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 13 110835356 110835356 C G SNP COL4A1 ENST00000375820 human ensembl 74_37 -1 known silent c.2079 p.G693 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 23 0 0 21 7 25 MCF2L 0 genome.wustl.edu 37 13 113634015 113634015 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 13 113634015 113634015 C T SNP MCF2L ENST00000375601 human ensembl 74_37 +1 known missense c.34 p.R12W 0.016 NULL pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors MCF2L HGNC ENSG00000126217 52 0 0 41 6 12.766 MICU2 0 genome.wustl.edu 37 13 22095413 22095413 + Nonsense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 13 22095413 22095413 C A SNP MICU2 ENST00000382374 human ensembl 74_37 -1 known nonsense c.568 p.E190* 1.000 smart_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MICU2 HGNC ENSG00000165487 49 0 0 34 7 17.0732 SACS 0 genome.wustl.edu 37 13 23906308 23906308 + Nonsense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 13 23906308 23906308 G A SNP SACS ENST00000382292 human ensembl 74_37 -1 known nonsense c.11707 p.R3903* 0.889 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 209 0 0 137 32 18.9349 MIPEP 0 genome.wustl.edu 37 13 24330693 24330693 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 13 24330693 24330693 T C SNP MIPEP ENST00000382172 human ensembl 74_37 -1 known missense c.2035 p.M679V 1.000 pfam_Pept_M3A_M3B pfam_Pept_M3A_M3B - no_errors MIPEP HGNC ENSG00000027001 123 1 0.806452 62 8 11.4286 CENPJ 0 genome.wustl.edu 37 13 25480097 25480097 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 13 25480097 25480097 G A SNP CENPJ ENST00000381884 human ensembl 74_37 -1 known silent c.2079 p.D693 0.982 NULL pfam_Tcp10_C_dom - no_errors CENPJ HGNC ENSG00000151849 70 0 0 44 12 21.4286 GSX1 0 genome.wustl.edu 37 13 28367140 28367140 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 13 28367140 28367140 G A SNP GSX1 ENST00000302945 human ensembl 74_37 +1 known missense c.313 p.G105R 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors GSX1 HGNC ENSG00000169840 16 0 0 10 3 23.0769 MTUS2 0 genome.wustl.edu 37 13 29599560 29599560 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 13 29599560 29599560 G A SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known missense c.755 p.R252H 0.000 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 38 0 0 31 8 20.5128 HSPH1 0 genome.wustl.edu 37 13 31725098 31725098 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 13 31725098 31725098 G A SNP HSPH1 ENST00000445273 human ensembl 74_37 -1 known silent c.900 p.S300 0.006 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPH1 HGNC ENSG00000120694 62 0 0 37 5 11.9048 BRCA2 0 genome.wustl.edu 37 13 32912670 32912670 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 13 32912670 32912670 C T SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known missense c.4178 p.A1393V 0.756 pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 78 0 0 54 5 8.47458 BRCA2 0 genome.wustl.edu 37 13 32915239 32915239 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 13 32915239 32915239 C T SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known silent c.6747 p.A2249 0.000 pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 190 0 0 171 33 16.1765 BRCA2 0 genome.wustl.edu 37 13 32972773 32972773 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 13 32972773 32972773 A G SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known missense c.10123 p.S3375G 0.000 pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 86 0 0 77 7 8.33333 CCDC169-SOHLH2 0 genome.wustl.edu 37 13 36767799 36767799 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 13 36767799 36767799 C T SNP CCDC169-SOHLH2 ENST00000511166 human ensembl 74_37 -1 known missense c.620 p.S207N 0.045 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors CCDC169-SOHLH2 HGNC ENSG00000250709 112 0 0 91 6 6.18557 SPG20 0 genome.wustl.edu 37 13 36905566 36905566 + Silent SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 13 36905566 36905566 C A SNP SPG20 ENST00000355182 human ensembl 74_37 -1 known silent c.978 p.L326 0.008 NULL pfam_Senescence/spartin,pfam_MIT,smart_MIT - no_errors SPG20 HGNC ENSG00000133104 132 0 0 73 21 22.3404 WBP4 0 genome.wustl.edu 37 13 41645700 41645700 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 13 41645700 41645700 C T SNP WBP4 ENST00000379487 human ensembl 74_37 +1 known silent c.477 p.D159 0.734 superfamily_WW_dom pfam_WW_dom,pfam_Znf_U1-C,superfamily_WW_dom,smart_Znf_U1,smart_WW_dom,pfscan_WW_dom,pfscan_Znf_C2H2_matrin - no_errors WBP4 HGNC ENSG00000120688 97 0 0 61 15 19.7368 ENOX1 0 genome.wustl.edu 37 13 43934138 43934138 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 13 43934138 43934138 G A SNP ENOX1 ENST00000261488 human ensembl 74_37 -1 known silent c.438 p.V146 0.123 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ENOX1 HGNC ENSG00000120658 74 0 0 62 6 8.82353 TSC22D1 0 genome.wustl.edu 37 13 45149730 45149730 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 13 45149730 45149730 T C SNP TSC22D1 ENST00000458659 human ensembl 74_37 -1 known missense c.481 p.R161G 1.000 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D1 HGNC ENSG00000102804 101 0 0 46 12 20.6897 NUFIP1 0 genome.wustl.edu 37 13 45563443 45563443 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 13 45563443 45563443 C T SNP NUFIP1 ENST00000379161 human ensembl 74_37 -1 known silent c.129 p.L43 0.180 NULL pfam_NUFIP1_cons_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors NUFIP1 HGNC ENSG00000083635 31 0 0 20 4 16.6667 ZC3H13 0 genome.wustl.edu 37 13 46559623 46559623 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 13 46559623 46559623 C T SNP ZC3H13 ENST00000242848 human ensembl 74_37 -1 known missense c.1529 p.R510H 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 146 0 0 91 32 26.0163 HTR2A 0 genome.wustl.edu 37 13 47409176 47409176 + Missense_Mutation SNP T T G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 13 47409176 47409176 T G SNP HTR2A ENST00000378688 human ensembl 74_37 -1 known missense c.1212 p.K404N 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2A HGNC ENSG00000102468 117 0 0 83 23 21.6981 ATP7B 0 genome.wustl.edu 37 13 52524252 52524252 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 13 52524252 52524252 G A SNP ATP7B ENST00000242839 human ensembl 74_37 -1 known missense c.2621 p.A874V 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd - no_errors ATP7B HGNC ENSG00000123191 89 0 0 55 16 22.5352 PCDH8 0 genome.wustl.edu 37 13 53420573 53420573 + Missense_Mutation SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 13 53420573 53420573 G T SNP PCDH8 ENST00000377942 human ensembl 74_37 -1 known missense c.1999 p.R667S 0.930 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 PCDH8 HGNC ENSG00000136099 34 0 0 27 7 20.5882 PCDH17 0 genome.wustl.edu 37 13 58207209 58207209 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 13 58207209 58207209 G A SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.529 p.G177S 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 52 0 0 33 9 21.4286 FARP1 0 genome.wustl.edu 37 13 99030142 99030142 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 13 99030142 99030142 G A SNP FARP1 ENST00000376586 human ensembl 74_37 +1 known missense c.466 p.A156T 0.998 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like 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 103 0 0 65 11 14.4737 DOCK9 0 genome.wustl.edu 37 13 99515694 99515694 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 13 99515694 99515694 C T SNP DOCK9 ENST00000339416 human ensembl 74_37 -1 known missense c.3398 p.R1133H 0.999 superfamily_ARM-type_fold pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK9 HGNC ENSG00000088387 153 0 0 83 19 18.6275 SNORD114-24 0 genome.wustl.edu 37 14 101451116 101451116 + RNA SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 101451116 101451116 G A SNP SNORD114-24 ENST00000365029 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNORD114-24 HGNC ENSG00000201899 128 0 0 125 11 8.08824 RCOR1 0 genome.wustl.edu 37 14 103059413 103059413 + Missense_Mutation SNP G G C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 103059413 103059413 G C SNP RCOR1 ENST00000262241 human ensembl 74_37 +1 known missense c.190 p.A64P 0.673 prints_Antifreeze_1 pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom,prints_Antifreeze_1 - no_errors RCOR1 HGNC ENSG00000089902 9 0 0 3 3 50 XRCC3 0 genome.wustl.edu 37 14 104165791 104165791 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 104165791 104165791 G A SNP XRCC3 ENST00000352127 human ensembl 74_37 -1 known silent c.684 p.S228 0.000 pfam_DNA_recomb/repair_Rad51_C,superfamily_P-loop_NTPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd pfam_DNA_recomb/repair_Rad51_C,superfamily_P-loop_NTPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd - no_errors XRCC3 HGNC ENSG00000126215 73 0 0 48 12 20 AHNAK2 0 genome.wustl.edu 37 14 105410343 105410343 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 105410343 105410343 C T SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.11445 p.V3815 0.002 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 440 0 0 346 25 6.73854 AHNAK2 0 genome.wustl.edu 37 14 105416190 105416190 + Silent SNP G G C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 105416190 105416190 G C SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.5598 p.L1866 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 66 0 0 40 5 11.1111 JAG2 0 genome.wustl.edu 37 14 105618041 105618041 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 105618041 105618041 C T SNP JAG2 ENST00000331782 human ensembl 74_37 -1 known missense c.1075 p.G359R 1.000 pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom,pfscan_VWF_C - no_errors JAG2 HGNC ENSG00000184916 26 0 0 12 4 25 BRF1 0 genome.wustl.edu 37 14 105683991 105683991 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 105683991 105683991 C T SNP BRF1 ENST00000546474 human ensembl 74_37 -1 known silent c.1662 p.P554 0.000 NULL pfam_TFIIB_cyclin,pfam_BRF1_TBP-bd,pfam_Znf_TFIIB,superfamily_Cyclin-like,smart_Cyclin-like,pfscan_Znf_TFIIB,prints_TFIIB - no_errors BRF1 HGNC ENSG00000185024 67 0 0 37 15 28.8462 ARHGEF40 0 genome.wustl.edu 37 14 21542925 21542925 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 21542925 21542925 G A SNP ARHGEF40 ENST00000298694 human ensembl 74_37 +1 known missense c.1036 p.G346R 0.114 NULL pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF40 HGNC ENSG00000165801 28 0 0 24 3 11.1111 JPH4 0 genome.wustl.edu 37 14 24041061 24041061 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 24041061 24041061 C T SNP JPH4 ENST00000356300 human ensembl 74_37 -1 known missense c.1220 p.R407Q 1.000 pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH4 HGNC ENSG00000092051 136 0 0 106 18 14.5161 PRKD1 0 genome.wustl.edu 37 14 30100065 30100065 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 30100065 30100065 C T SNP PRKD1 ENST00000331968 human ensembl 74_37 -1 known missense c.1555 p.V519I 0.010 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD1 HGNC ENSG00000184304 170 0 0 106 26 19.697 ARHGAP5 0 genome.wustl.edu 37 14 32561268 32561268 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 32561268 32561268 T C SNP ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known missense c.1393 p.Y465H 1.000 superfamily_FF_domain,smart_FF_domain pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 141 0 0 104 16 13.3333 AKAP6 0 genome.wustl.edu 37 14 33291546 33291546 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 33291546 33291546 C T SNP AKAP6 ENST00000280979 human ensembl 74_37 +1 known silent c.4527 p.C1509 1.000 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 80 0 0 69 13 15.8537 NPAS3 0 genome.wustl.edu 37 14 34269096 34269096 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 34269096 34269096 G A SNP NPAS3 ENST00000356141 human ensembl 74_37 +1 known missense c.1583 p.S528N 1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors NPAS3 HGNC ENSG00000151322 69 0 0 37 11 22.9167 BAZ1A 0 genome.wustl.edu 37 14 35245412 35245412 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 35245412 35245412 T C SNP BAZ1A ENST00000360310 human ensembl 74_37 -1 known missense c.2546 p.Q849R 1.000 NULL pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1A HGNC ENSG00000198604 132 0 0 91 14 13.3333 RALGAPA1 0 genome.wustl.edu 37 14 36074845 36074845 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 36074845 36074845 T C SNP RALGAPA1 ENST00000258840 human ensembl 74_37 -1 known missense c.5623 p.N1875D 1.000 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA1 HGNC ENSG00000174373 110 0 0 86 14 14 POLE2 0 genome.wustl.edu 37 14 50140860 50140860 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 50140860 50140860 C T SNP POLE2 ENST00000216367 human ensembl 74_37 -1 known missense c.398 p.R133Q 1.000 pirsf_DNA_pol_e_bsu pfam_DNA_pol_alpha/epsilon_bsu,pfam_DNA_pol_e_bsu_N,pirsf_DNA_pol_e_bsu - no_errors POLE2 HGNC ENSG00000100479 327 0 0 221 68 23.5294 NID2 0 genome.wustl.edu 37 14 52478332 52478332 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 52478332 52478332 G A SNP NID2 ENST00000216286 human ensembl 74_37 -1 known missense c.3490 p.R1164W 0.930 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID2 HGNC ENSG00000087303 204 1 0.487805 140 40 22.2222 PPM1A 0 genome.wustl.edu 37 14 60758133 60758133 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 60758133 60758133 C T SNP PPM1A ENST00000325642 human ensembl 74_37 +1 known silent c.1299 p.A433 0.813 pfam_PP2C_C,superfamily_PP2C_C pfam_PP2C-like_dom,pfam_PP2C_C,superfamily_PP2C-like_dom,superfamily_PP2C_C,smart_PP2C-like_dom - no_errors PPM1A HGNC ENSG00000100614 80 0 0 56 12 17.6471 TMEM30B 0 genome.wustl.edu 37 14 61747056 61747056 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 61747056 61747056 G A SNP TMEM30B ENST00000355702 human ensembl 74_37 -1 known silent c.810 p.R270 1.000 pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk - no_errors TMEM30B HGNC ENSG00000182107 72 0 0 57 13 18.5714 SYNE2 0 genome.wustl.edu 37 14 64519599 64519599 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 64519599 64519599 G A SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.8968 p.A2990T 0.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 101 0 0 58 8 12.1212 AKAP5 0 genome.wustl.edu 37 14 64935359 64935359 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 64935359 64935359 A G SNP AKAP5 ENST00000320636 human ensembl 74_37 +1 known missense c.247 p.K83E 0.911 pfam_Pkinase-A_anch_WSK-motif pfam_Pkinase-A_anch_WSK-motif - no_errors AKAP5 HGNC ENSG00000179841 149 1 0.666667 117 11 8.59375 TMEM229B 0 genome.wustl.edu 37 14 67940618 67940618 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 67940618 67940618 G A SNP TMEM229B ENST00000357461 human ensembl 74_37 -1 known missense c.23 p.T8M 1.000 NULL pfam_DUF1113_TMEM229 - no_errors TMEM229B HGNC ENSG00000198133 27 0 0 13 2 13.3333 RGS6 0 genome.wustl.edu 37 14 72818835 72818835 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 72818835 72818835 C T SNP RGS6 ENST00000553525 human ensembl 74_37 +1 known silent c.117 p.D39 1.000 NULL pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS6 HGNC ENSG00000182732 59 0 0 29 8 21.6216 ELMSAN1 0 genome.wustl.edu 37 14 74205578 74205578 + Missense_Mutation SNP A A C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 74205578 74205578 A C SNP ELMSAN1 ENST00000286523 human ensembl 74_37 -1 known missense c.1134 p.H378Q 0.998 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC ENSG00000156030 47 0 0 36 10 21.7391 ALDH6A1 0 genome.wustl.edu 37 14 74534179 74534179 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 74534179 74534179 G A SNP ALDH6A1 ENST00000553458 human ensembl 74_37 -1 known missense c.946 p.R316C 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_MeMal-semiAld_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_MeMal-semiAld_DH - no_errors ALDH6A1 HGNC ENSG00000119711 114 0 0 62 28 31.1111 MLH3 0 genome.wustl.edu 37 14 75513915 75513915 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 75513915 75513915 T C SNP MLH3 ENST00000355774 human ensembl 74_37 -1 known missense c.2444 p.D815G 0.003 NULL pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_dom,smart_MutL_C - no_errors MLH3 HGNC ENSG00000119684 149 0 0 129 8 5.83942 TGFB3 0 genome.wustl.edu 37 14 76429726 76429726 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 76429726 76429726 G A SNP TGFB3 ENST00000238682 human ensembl 74_37 -1 known missense c.859 p.R287W 1.000 pirsf_TGF-beta,prints_Transform_grow_fac_b3 pirsf_TGF-beta,pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Transform_grow_fac_b3,prints_TGF-beta - no_errors TGFB3 HGNC ENSG00000119699 147 0 0 75 23 23.4694 IRF2BPL 0 genome.wustl.edu 37 14 77492017 77492017 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 77492017 77492017 T C SNP IRF2BPL ENST00000238647 human ensembl 74_37 -1 known missense c.2119 p.M707V 1.000 pfam_Interferon_reg_fac2-bd1_2_Znf pfam_Interferon_reg_fac2-bd1_2_Znf - no_errors IRF2BPL HGNC ENSG00000119669 58 0 0 39 8 17.0213 TMEM63C 0 genome.wustl.edu 37 14 77712359 77712359 + Nonsense_Mutation SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 77712359 77712359 G T SNP TMEM63C ENST00000298351 human ensembl 74_37 +1 known nonsense c.1525 p.G509* 1.000 pfam_DUF221 pfam_DUF221 - no_errors TMEM63C HGNC ENSG00000165548 159 0 0 98 10 9.25926 TMEM63C 0 genome.wustl.edu 37 14 77715752 77715752 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 77715752 77715752 G A SNP TMEM63C ENST00000298351 human ensembl 74_37 +1 known silent c.1989 p.A663 0.000 pfam_DUF221 pfam_DUF221 - no_errors TMEM63C HGNC ENSG00000165548 72 0 0 54 20 27.027 NRXN3 0 genome.wustl.edu 37 14 80328022 80328022 + Silent SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 80328022 80328022 G T SNP NRXN3 ENST00000335750 human ensembl 74_37 +1 known silent c.2901 p.P967 0.969 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 72 0 0 41 11 21.1538 BTBD7 0 genome.wustl.edu 37 14 93723553 93723553 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 93723553 93723553 G A SNP BTBD7 ENST00000334746 human ensembl 74_37 -1 known silent c.1596 p.V532 1.000 smart_BACK pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD7 HGNC ENSG00000011114 97 0 0 59 13 18.0556 UNC79 0 genome.wustl.edu 37 14 94007040 94007040 + Nonsense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 94007040 94007040 C T SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known nonsense c.1387 p.R463* 1.000 NULL superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 123 0 0 99 7 6.60377 SERPINA4 0 genome.wustl.edu 37 14 95033573 95033573 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 95033573 95033573 C T SNP SERPINA4 ENST00000298841 human ensembl 74_37 +1 known missense c.916 p.R306W 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA4 HGNC ENSG00000100665 69 0 0 59 15 20.2703 ADAMTS17 0 genome.wustl.edu 37 15 100802556 100802556 + Splice_Site SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 100802556 100802556 C T SNP ADAMTS17 ENST00000268070 human ensembl 74_37 -1 known splice_site c.873+1 e5+1 1.000 - - - no_errors ADAMTS17 HGNC ENSG00000140470 191 0 0 108 19 14.9606 LRRK1 0 genome.wustl.edu 37 15 101605617 101605617 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 101605617 101605617 C T SNP LRRK1 ENST00000388948 human ensembl 74_37 +1 known missense c.4975 p.R1659W 0.359 superfamily_WD40_repeat_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors LRRK1 HGNC ENSG00000154237 176 1 0.564972 110 27 19.708 MKRN3 0 genome.wustl.edu 37 15 23812238 23812238 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 23812238 23812238 T C SNP MKRN3 ENST00000314520 human ensembl 74_37 +1 known missense c.1309 p.S437P 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN3 HGNC ENSG00000179455 113 0 0 65 16 19.7531 MAGEL2 0 genome.wustl.edu 37 15 23889846 23889846 + Missense_Mutation SNP T T G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 23889846 23889846 T G SNP MAGEL2 ENST00000532292 human ensembl 74_37 -1 known missense c.1235 p.Q412P 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC ENSG00000254585 68 0 0 28 5 15.1515 ULK4P3 0 genome.wustl.edu 37 15 30406180 30406180 + RNA SNP A A T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 30406180 30406180 A T SNP ULK4P3 ENST00000566138 human ensembl 74_37 +1 putative rna NULL NULL 0.442 - - - no_errors ULK4P3 HGNC ENSG00000178081 35 0 0 14 9 39.1304 RYR3 0 genome.wustl.edu 37 15 33928729 33928729 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 33928729 33928729 C T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known silent c.3534 p.F1178 0.827 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,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,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 143 0 0 100 8 7.40741 SPRED1 0 genome.wustl.edu 37 15 38632012 38632012 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 38632012 38632012 G A SNP SPRED1 ENST00000299084 human ensembl 74_37 +1 known silent c.498 p.E166 0.993 NULL pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors SPRED1 HGNC ENSG00000166068 79 0 0 40 17 29.8246 C15orf54 0 genome.wustl.edu 37 15 39544753 39544753 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 39544753 39544753 C T SNP C15orf54 ENST00000318578 human ensembl 74_37 +1 known silent c.417 p.C139 0.000 NULL NULL - no_errors C15orf54 HGNC ENSG00000175746 168 0 0 124 15 10.7914 THBS1 0 genome.wustl.edu 37 15 39885727 39885727 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 39885727 39885727 A G SNP THBS1 ENST00000260356 human ensembl 74_37 +1 known missense c.3125 p.Q1042R 1.000 pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl_sf pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS1 HGNC ENSG00000137801 222 0 0 147 15 9.25926 EIF2AK4 0 genome.wustl.edu 37 15 40318214 40318214 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 40318214 40318214 C T SNP EIF2AK4 ENST00000263791 human ensembl 74_37 +1 known missense c.4426 p.R1476C 1.000 superfamily_Anticodon-bd,pirsf_Ser/Thr_kinase_GCN2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RWD-domain,superfamily_Kinase-like_dom,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Anticodon-bd,smart_RWD-domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_RWD-domain,pfscan_Prot_kinase_dom - no_errors EIF2AK4 HGNC ENSG00000128829 67 0 0 60 7 10.4478 ENSG00000259536 0 genome.wustl.edu 37 15 40849370 40849370 + RNA SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 40849370 40849370 A G SNP ENSG00000259536 ENST00000561460 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-111A22.1 Clone_based_vega_gene ENSG00000259536 56 0 0 39 8 17.0213 RPUSD2 0 genome.wustl.edu 37 15 40865952 40865952 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 40865952 40865952 A G SNP RPUSD2 ENST00000315616 human ensembl 74_37 +1 known missense c.1130 p.Q377R 1.000 pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_RluC/D pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_RluC/D - no_errors RPUSD2 HGNC ENSG00000166133 93 0 0 53 10 15.873 VPS18 0 genome.wustl.edu 37 15 41188187 41188187 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 41188187 41188187 G A SNP VPS18 ENST00000220509 human ensembl 74_37 +1 known missense c.143 p.R48H 1.000 NULL pfam_Pep3_Vps18,pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold - no_errors VPS18 HGNC ENSG00000104142 234 0 0 161 17 9.55056 SPTBN5 0 genome.wustl.edu 37 15 42151169 42151169 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 42151169 42151169 C T SNP SPTBN5 ENST00000320955 human ensembl 74_37 -1 known silent c.7998 p.A2666 0.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 14 0 0 8 3 27.2727 GANC 0 genome.wustl.edu 37 15 42602614 42602614 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 42602614 42602614 A G SNP GANC ENST00000318010 human ensembl 74_37 +1 known missense c.856 p.N286D 1.000 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom - no_errors GANC HGNC ENSG00000214013 58 0 0 41 8 16.3265 ADAL 0 genome.wustl.edu 37 15 43627977 43627977 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 43627977 43627977 C T SNP ADAL ENST00000422466 human ensembl 74_37 +1 known silent c.147 p.H49 0.000 pfam_A/AMP_deaminase_dom pfam_A/AMP_deaminase_dom - no_errors ADAL HGNC ENSG00000168803 136 0 0 94 17 15.3153 ZSCAN29 0 genome.wustl.edu 37 15 43654005 43654005 + Missense_Mutation SNP T T G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 43654005 43654005 T G SNP ZSCAN29 ENST00000396976 human ensembl 74_37 -1 known missense c.1825 p.S609R 0.019 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN29 HGNC ENSG00000140265 235 0 0 156 13 7.69231 WDR76 0 genome.wustl.edu 37 15 44143344 44143344 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 44143344 44143344 C T SNP WDR76 ENST00000263795 human ensembl 74_37 +1 known silent c.1092 p.S364 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR76 HGNC ENSG00000092470 192 0 0 116 38 24.6753 C15orf43 0 genome.wustl.edu 37 15 45250696 45250696 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 45250696 45250696 C T SNP C15orf43 ENST00000340827 human ensembl 74_37 +1 known missense c.272 p.A91V 0.862 NULL NULL - no_errors C15orf43 HGNC ENSG00000167014 32 0 0 16 5 23.8095 DUOX1 0 genome.wustl.edu 37 15 45444607 45444607 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 45444607 45444607 G A SNP DUOX1 ENST00000321429 human ensembl 74_37 +1 known missense c.3317 p.R1106H 1.000 pfam_Fe3_Rdtase_TM_dom pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal - no_errors DUOX1 HGNC ENSG00000137857 97 0 0 67 10 12.987 SECISBP2L 0 genome.wustl.edu 37 15 49327620 49327620 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 49327620 49327620 A G SNP SECISBP2L ENST00000559471 human ensembl 74_37 -1 known missense c.439 p.C147R 0.997 NULL pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors SECISBP2L HGNC ENSG00000138593 160 0 0 96 31 24.4094 ATP8B4 0 genome.wustl.edu 37 15 50168644 50168644 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 50168644 50168644 C T SNP ATP8B4 ENST00000284509 human ensembl 74_37 -1 known missense c.2858 p.R953H 0.999 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B4 HGNC ENSG00000104043 83 0 0 68 14 17.0732 UNC13C 0 genome.wustl.edu 37 15 54306982 54306982 + Nonsense_Mutation SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 54306982 54306982 G T SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known nonsense c.1882 p.G628* 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 140 0 0 85 11 11.4583 DYX1C1 0 genome.wustl.edu 37 15 55790442 55790442 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 55790442 55790442 C T SNP DYX1C1 ENST00000321149 human ensembl 74_37 -1 known missense c.86 p.R29K 0.006 pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom pfam_TPR_1,pfam_CS_dom,superfamily_HSP20-like_chaperone,smart_TPR_repeat,pfscan_CS_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors DYX1C1 HGNC ENSG00000256061 58 0 0 38 4 9.52381 PYGO1 0 genome.wustl.edu 37 15 55841142 55841142 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 55841142 55841142 C T SNP PYGO1 ENST00000302000 human ensembl 74_37 -1 known missense c.101 p.S34N 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PYGO1 HGNC ENSG00000171016 91 0 0 58 15 20.5479 FOXB1 0 genome.wustl.edu 37 15 60297960 60297960 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 60297960 60297960 G A SNP FOXB1 ENST00000396057 human ensembl 74_37 +1 known silent c.798 p.T266 0.845 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXB1 HGNC ENSG00000171956 26 0 0 18 6 25 TLN2 0 genome.wustl.edu 37 15 63089583 63089583 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 63089583 63089583 C T SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known silent c.6216 p.S2072 0.003 superfamily_Vinculin/catenin pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN2 HGNC ENSG00000171914 59 0 0 39 3 7.14286 ZWILCH 0 genome.wustl.edu 37 15 66819666 66819666 + Nonsense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 66819666 66819666 G A SNP ZWILCH ENST00000307897 human ensembl 74_37 +1 known nonsense c.858 p.W286* 1.000 pfam_RZZ-complex_zwilch pfam_RZZ-complex_zwilch - no_errors ZWILCH HGNC ENSG00000174442 57 0 0 43 20 31.746 LCTL 0 genome.wustl.edu 37 15 66857094 66857094 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 66857094 66857094 C T SNP LCTL ENST00000341509 human ensembl 74_37 -1 known missense c.202 p.V68I 0.272 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCTL HGNC ENSG00000188501 156 0 0 114 15 11.6279 IQCH 0 genome.wustl.edu 37 15 67757528 67757528 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 67757528 67757528 T C SNP IQCH ENST00000335894 human ensembl 74_37 +1 known missense c.2569 p.Y857H 0.767 NULL superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors IQCH HGNC ENSG00000103599 121 0 0 76 12 13.6364 PIAS1 0 genome.wustl.edu 37 15 68445963 68445963 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 68445963 68445963 G A SNP PIAS1 ENST00000249636 human ensembl 74_37 +1 known silent c.864 p.L288 1.000 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS1 HGNC ENSG00000033800 36 0 0 37 8 17.7778 THSD4 0 genome.wustl.edu 37 15 71535237 71535237 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 71535237 71535237 G A SNP THSD4 ENST00000261862 human ensembl 74_37 +1 known silent c.714 p.A238 0.000 pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors THSD4 HGNC ENSG00000187720 116 0 0 60 23 27.7108 PKM 0 genome.wustl.edu 37 15 72494845 72494845 + Silent SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 72494845 72494845 G T SNP PKM ENST00000335181 human ensembl 74_37 -1 known silent c.1257 p.A419 0.984 pfam_Pyrv_Knase_C,superfamily_Pyrv_Knase_C,tigrfam_Pyr_Knase pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase - no_errors PKM HGNC ENSG00000067225 50 0 0 28 2 6.66667 HCN4 0 genome.wustl.edu 37 15 73617395 73617395 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 73617395 73617395 T C SNP HCN4 ENST00000261917 human ensembl 74_37 -1 known missense c.1879 p.T627A 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,pfscan_cNMP-bd_dom - no_errors HCN4 HGNC ENSG00000138622 135 0 0 81 10 10.989 ARID3B 0 genome.wustl.edu 37 15 74836313 74836313 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 74836313 74836313 G A SNP ARID3B ENST00000346246 human ensembl 74_37 +1 known silent c.36 p.Q12 0.998 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID3B HGNC ENSG00000179361 38 0 0 19 6 24 CLK3 0 genome.wustl.edu 37 15 74912475 74912475 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 74912475 74912475 G A SNP CLK3 ENST00000395066 human ensembl 74_37 +1 known missense c.722 p.R241Q 0.184 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CLK3 HGNC ENSG00000179335 286 0 0 217 23 9.58333 CSK 0 genome.wustl.edu 37 15 75091041 75091041 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 75091041 75091041 A G SNP CSK ENST00000220003 human ensembl 74_37 +1 known missense c.101 p.D34G 0.999 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors CSK HGNC ENSG00000103653 56 0 0 32 6 15.7895 MAN2C1 0 genome.wustl.edu 37 15 75648732 75648732 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 75648732 75648732 C A SNP MAN2C1 ENST00000267978 human ensembl 74_37 -1 known missense c.2796 p.L932F 0.035 pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2C1 HGNC ENSG00000140400 23 0 0 18 7 28 SIN3A 0 genome.wustl.edu 37 15 75676749 75676749 + Silent SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 75676749 75676749 A G SNP SIN3A ENST00000360439 human ensembl 74_37 -1 known silent c.3051 p.C1017 1.000 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3A HGNC ENSG00000169375 100 0 0 58 20 25.641 SCAPER 0 genome.wustl.edu 37 15 76673718 76673718 + Splice_Site SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 76673718 76673718 C A SNP SCAPER ENST00000324767 human ensembl 74_37 -1 known splice_site c.3705+1 e27+1 1.000 - - - no_errors SCAPER HGNC ENSG00000140386 22 0 0 23 3 11.5385 IL16 0 genome.wustl.edu 37 15 81592247 81592247 + Missense_Mutation SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 81592247 81592247 G T SNP IL16 ENST00000302987 human ensembl 74_37 +1 known missense c.2580 p.Q860H 0.998 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_IL-16 - no_errors IL16 HGNC ENSG00000172349 70 0 0 50 15 23.0769 EFTUD1P1 0 genome.wustl.edu 37 15 84790287 84790287 + RNA SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 84790287 84790287 A G SNP EFTUD1P1 ENST00000560381 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors EFTUD1P1 HGNC ENSG00000259404 83 0 0 59 9 13.2353 ALPK3 0 genome.wustl.edu 37 15 85406054 85406054 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 85406054 85406054 C A SNP ALPK3 ENST00000258888 human ensembl 74_37 +1 known missense c.4924 p.R1642S 1.000 pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK3 HGNC ENSG00000136383 75 0 0 72 9 11.1111 KLHL25 0 genome.wustl.edu 37 15 86312936 86312936 + Missense_Mutation SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 86312936 86312936 G T SNP KLHL25 ENST00000337975 human ensembl 74_37 -1 known missense c.106 p.L36I 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL25 HGNC ENSG00000183655 89 0 0 68 5 6.84932 TPSD1 0 genome.wustl.edu 37 16 1306823 1306823 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 1306823 1306823 A G SNP TPSD1 ENST00000211076 human ensembl 74_37 +1 known missense c.280 p.R94G 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors TPSD1 HGNC ENSG00000095917 46 0 0 26 4 13.3333 MKL2 0 genome.wustl.edu 37 16 14341272 14341272 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 14341272 14341272 A G SNP MKL2 ENST00000341243 human ensembl 74_37 +1 known missense c.2122 p.T708A 1.000 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MKL2 HGNC ENSG00000186260 51 0 0 41 3 6.81818 CLCN7 0 genome.wustl.edu 37 16 1502845 1502845 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 1502845 1502845 C T SNP CLCN7 ENST00000382745 human ensembl 74_37 -1 known missense c.1264 p.A422T 0.994 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core 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 14 0 0 13 4 23.5294 PKD1P6 0 genome.wustl.edu 37 16 15222202 15222202 + RNA SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 15222202 15222202 G A SNP PKD1P6 ENST00000424133 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PKD1P6 HGNC ENSG00000250251 45 0 0 25 4 13.7931 GPRC5B 0 genome.wustl.edu 37 16 19883215 19883215 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 19883215 19883215 G A SNP GPRC5B ENST00000537135 human ensembl 74_37 -1 known missense c.1031 p.T344M 1.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPRC5B HGNC ENSG00000167191 136 0 0 81 9 10 GPRC5B 0 genome.wustl.edu 37 16 19883779 19883779 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 19883779 19883779 C T SNP GPRC5B ENST00000537135 human ensembl 74_37 -1 known missense c.467 p.G156D 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPRC5B HGNC ENSG00000167191 41 0 0 27 3 10 TSC2 0 genome.wustl.edu 37 16 2122296 2122296 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 2122296 2122296 C T SNP TSC2 ENST00000219476 human ensembl 74_37 +1 known missense c.2152 p.R718C 1.000 pfam_Tuberin-type_domain,prints_Tuberin pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin - no_errors TSC2 HGNC ENSG00000103197 127 0 0 97 24 19.8347 ANKS4B 0 genome.wustl.edu 37 16 21261128 21261128 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 21261128 21261128 G A SNP ANKS4B ENST00000311620 human ensembl 74_37 +1 known missense c.241 p.V81I 0.998 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKS4B HGNC ENSG00000175311 83 0 0 60 6 9.09091 OTOA 0 genome.wustl.edu 37 16 21702982 21702982 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 21702982 21702982 T C SNP OTOA ENST00000286149 human ensembl 74_37 +1 known missense c.713 p.I238T 0.003 NULL NULL - no_errors OTOA HGNC ENSG00000155719 56 0 0 35 3 7.89474 MLST8 0 genome.wustl.edu 37 16 2258236 2258236 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 2258236 2258236 C T SNP MLST8 ENST00000397124 human ensembl 74_37 +1 known missense c.599 p.T200M 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom 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 MLST8 HGNC ENSG00000167965 212 0 0 162 13 7.42857 ABCA3 0 genome.wustl.edu 37 16 2333309 2333309 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 2333309 2333309 G A SNP ABCA3 ENST00000301732 human ensembl 74_37 -1 known missense c.3913 p.R1305W 0.995 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ENSG00000167972 93 0 0 52 13 20 COG7 0 genome.wustl.edu 37 16 23430031 23430031 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 23430031 23430031 G A SNP COG7 ENST00000307149 human ensembl 74_37 -1 known missense c.1127 p.A376V 1.000 pfam_COG7 pfam_COG7 - no_errors COG7 HGNC ENSG00000168434 60 0 0 53 4 7.01754 TNRC6A 0 genome.wustl.edu 37 16 24834864 24834864 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 24834864 24834864 C T SNP TNRC6A ENST00000395799 human ensembl 74_37 +1 known silent c.5625 p.L1875 0.224 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 216 0 0 149 40 21.164 NTN3 0 genome.wustl.edu 37 16 2522140 2522140 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 2522140 2522140 G A SNP NTN3 ENST00000293973 human ensembl 74_37 +1 known silent c.438 p.P146 0.215 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_N,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain - no_errors NTN3 HGNC ENSG00000162068 63 0 0 40 8 16.6667 ZKSCAN2 0 genome.wustl.edu 37 16 25268437 25268437 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 25268437 25268437 G A SNP ZKSCAN2 ENST00000328086 human ensembl 74_37 -1 known silent c.12 p.A4 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,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 ZKSCAN2 HGNC ENSG00000155592 194 0 0 118 36 23.3766 IL21R 0 genome.wustl.edu 37 16 27455956 27455956 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 27455956 27455956 C T SNP IL21R ENST00000337929 human ensembl 74_37 +1 known missense c.601 p.R201W 1.000 superfamily_Fibronectin_type3 superfamily_Fibronectin_type3 - no_errors IL21R HGNC ENSG00000103522 114 0 0 67 18 21.1765 GTF3C1 0 genome.wustl.edu 37 16 27476649 27476649 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 27476649 27476649 G A SNP GTF3C1 ENST00000356183 human ensembl 74_37 -1 known missense c.5287 p.R1763C 0.438 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 152 0 0 116 16 12.1212 APOBR 0 genome.wustl.edu 37 16 28507089 28507089 + Missense_Mutation SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 28507089 28507089 G T SNP APOBR ENST00000564831 human ensembl 74_37 +1 known missense c.727 p.G243W 0.000 NULL NULL - no_errors APOBR HGNC ENSG00000184730 19 0 0 4 3 42.8571 ATXN2L 0 genome.wustl.edu 37 16 28844506 28844506 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 28844506 28844506 G A SNP ATXN2L ENST00000395547 human ensembl 74_37 +1 known missense c.1786 p.V596I 0.920 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2L HGNC ENSG00000168488 191 0 0 131 17 11.4865 ASPHD1 0 genome.wustl.edu 37 16 29912905 29912905 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 29912905 29912905 G A SNP ASPHD1 ENST00000308748 human ensembl 74_37 +1 known missense c.613 p.A205T 0.997 NULL pfam_Asp_Arg_b-Hydrxlase - no_errors ASPHD1 HGNC ENSG00000174939 153 0 0 122 12 8.95522 TAOK2 0 genome.wustl.edu 37 16 29997869 29997869 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 29997869 29997869 C A SNP TAOK2 ENST00000308893 human ensembl 74_37 +1 known missense c.2276 p.P759H 0.989 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TAOK2 HGNC ENSG00000149930 180 1 0.552486 103 17 14.1667 PPP4C 0 genome.wustl.edu 37 16 30096043 30096043 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 30096043 30096043 G A SNP PPP4C ENST00000279387 human ensembl 74_37 +1 known missense c.661 p.V221M 1.000 pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP4C HGNC ENSG00000149923 176 0 0 144 25 14.7929 TBX6 0 genome.wustl.edu 37 16 30097591 30097591 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 30097591 30097591 G A SNP TBX6 ENST00000279386 human ensembl 74_37 -1 known silent c.1266 p.T422 0.303 NULL 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 97 0 0 82 25 23.3645 PHKG2 0 genome.wustl.edu 37 16 30762576 30762576 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 30762576 30762576 G A SNP PHKG2 ENST00000563588 human ensembl 74_37 +1 known missense c.245 p.R82H 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Phosph_kin_gamma,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PHKG2 HGNC ENSG00000156873 71 0 0 60 8 11.7647 SETD1A 0 genome.wustl.edu 37 16 30977128 30977128 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 30977128 30977128 G A SNP SETD1A ENST00000262519 human ensembl 74_37 +1 known silent c.1926 p.P642 0.004 NULL pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1A HGNC ENSG00000099381 43 0 0 33 8 19.5122 FUS 0 genome.wustl.edu 37 16 31196405 31196405 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 31196405 31196405 C T SNP FUS ENST00000254108 human ensembl 74_37 +1 known silent c.669 p.G223 0.710 NULL pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors FUS HGNC ENSG00000089280 20 0 0 14 5 26.3158 FUS 0 genome.wustl.edu 37 16 31196420 31196420 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 31196420 31196420 C T SNP FUS ENST00000254108 human ensembl 74_37 +1 known silent c.684 p.G228 0.180 NULL pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors FUS HGNC ENSG00000089280 29 0 0 12 7 36.8421 PYDC1 0 genome.wustl.edu 37 16 31228252 31228252 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 31228252 31228252 C T SNP PYDC1 ENST00000302964 human ensembl 74_37 -1 known missense c.98 p.R33H 0.000 pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN - no_errors PYDC1 HGNC ENSG00000169900 82 0 0 47 7 12.963 ITGAM 0 genome.wustl.edu 37 16 31342529 31342529 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 31342529 31342529 C T SNP ITGAM ENST00000544665 human ensembl 74_37 +1 known missense c.3323 p.P1108L 0.484 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAM HGNC ENSG00000169896 62 0 0 44 10 18.5185 MEFV 0 genome.wustl.edu 37 16 3304219 3304219 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 3304219 3304219 C T SNP MEFV ENST00000219596 human ensembl 74_37 -1 known silent c.849 p.P283 0.000 NULL pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like_dom,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin - no_errors MEFV HGNC ENSG00000103313 181 0 0 95 27 22.1311 ZNF174 0 genome.wustl.edu 37 16 3458468 3458468 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 3458468 3458468 G A SNP ZNF174 ENST00000268655 human ensembl 74_37 +1 known missense c.773 p.R258Q 0.049 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF174 HGNC ENSG00000103343 145 0 0 123 13 9.55882 CREBBP 0 genome.wustl.edu 37 16 3781384 3781384 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 3781384 3781384 T C SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known missense c.4981 p.M1661V 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 23 0 0 18 4 18.1818 TMEM8A 0 genome.wustl.edu 37 16 425384 425384 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 425384 425384 G A SNP TMEM8A ENST00000431232 human ensembl 74_37 -1 known missense c.1276 p.P426S 0.878 NULL pfam_DUF3522,pfscan_EG-like_dom - no_errors TMEM8A HGNC ENSG00000129925 121 1 0.819672 92 10 9.80392 CORO7-PAM16 0 genome.wustl.edu 37 16 4390324 4390324 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 4390324 4390324 G A SNP CORO7-PAM16 ENST00000572467 human ensembl 74_37 -1 known missense c.3143 p.T1048M 1.000 NULL pfam_DUF1900,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO7-PAM16 HGNC ENSG00000103426 170 0 0 97 25 20.4918 PHKB 0 genome.wustl.edu 37 16 47674948 47674948 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 47674948 47674948 C T SNP PHKB ENST00000299167 human ensembl 74_37 +1 known silent c.1461 p.G487 0.872 pfam_Glyco_hydro_15 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKB HGNC ENSG00000102893 75 0 0 51 11 17.7419 UBN1 0 genome.wustl.edu 37 16 4911085 4911085 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 4911085 4911085 C T SNP UBN1 ENST00000262376 human ensembl 74_37 +1 known silent c.1092 p.R364 0.997 NULL NULL - no_errors UBN1 HGNC ENSG00000118900 44 0 0 36 3 7.69231 CBLN1 0 genome.wustl.edu 37 16 49315263 49315263 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 49315263 49315263 G A SNP CBLN1 ENST00000219197 human ensembl 74_37 -1 known silent c.114 p.C38 1.000 NULL pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN1 HGNC ENSG00000102924 53 0 0 32 4 11.1111 SALL1 0 genome.wustl.edu 37 16 51173541 51173541 + Silent SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 51173541 51173541 A G SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known silent c.2592 p.A864 0.971 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 115 0 0 73 13 15.1163 KIFC3 0 genome.wustl.edu 37 16 57794956 57794956 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 57794956 57794956 G A SNP KIFC3 ENST00000379655 human ensembl 74_37 -1 known missense c.2000 p.T667M 0.880 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC3 HGNC ENSG00000140859 55 0 0 45 5 10 KIFC3 0 genome.wustl.edu 37 16 57828936 57828936 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 57828936 57828936 G A SNP KIFC3 ENST00000379655 human ensembl 74_37 -1 known missense c.290 p.P97L 0.990 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC3 HGNC ENSG00000140859 40 0 0 26 6 18.75 CDH8 0 genome.wustl.edu 37 16 61687700 61687700 + Missense_Mutation SNP C C G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 61687700 61687700 C G SNP CDH8 ENST00000577390 human ensembl 74_37 -1 known missense c.2212 p.A738P 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 105 1 0.943396 77 6 7.22892 CDH11 0 genome.wustl.edu 37 16 64984700 64984700 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 64984700 64984700 C T SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known missense c.1864 p.A622T 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 61 0 0 56 8 12.5 CES4A 0 genome.wustl.edu 37 16 67037006 67037006 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 67037006 67037006 C T SNP CES4A ENST00000326686 human ensembl 74_37 +1 known missense c.724 p.R242W 0.877 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES4A HGNC ENSG00000172824 138 0 0 94 19 16.8142 EXOC3L1 0 genome.wustl.edu 37 16 67222722 67222722 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 67222722 67222722 A G SNP EXOC3L1 ENST00000314586 human ensembl 74_37 -1 known missense c.329 p.M110T 0.001 NULL pfam_Sec6 - no_errors EXOC3L1 HGNC ENSG00000179044 73 0 0 63 11 14.8649 TMEM208 0 genome.wustl.edu 37 16 67262891 67262891 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 67262891 67262891 G A SNP TMEM208 ENST00000304800 human ensembl 74_37 +1 known missense c.397 p.A133T 1.000 pfam_DUF788_TMEM208 pfam_DUF788_TMEM208 - no_errors TMEM208 HGNC ENSG00000168701 144 0 0 103 6 5.50459 SLC9A5 0 genome.wustl.edu 37 16 67293845 67293845 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 67293845 67293845 G A SNP SLC9A5 ENST00000299798 human ensembl 74_37 +1 known missense c.1838 p.R613H 1.000 prints_Na/H_exchanger_3/5,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A5 HGNC ENSG00000135740 56 0 0 32 7 17.9487 ATP6V0D1 0 genome.wustl.edu 37 16 67477083 67477083 + Splice_Site SNP T T G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 67477083 67477083 T G SNP ATP6V0D1 ENST00000290949 human ensembl 74_37 -1 known splice_site c.482-2 e4-2 1.000 - - - no_errors ATP6V0D1 HGNC ENSG00000159720 96 0 0 67 9 11.8421 ATP6V0D1 0 genome.wustl.edu 37 16 67478439 67478439 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 67478439 67478439 G A SNP ATP6V0D1 ENST00000290949 human ensembl 74_37 -1 known missense c.473 p.T158M 1.000 pfam_ATPase_V0-cplx_csu/dsu,superfamily_ATPase_V0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu pfam_ATPase_V0-cplx_csu/dsu,superfamily_ATPase_V0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu - no_errors ATP6V0D1 HGNC ENSG00000159720 81 0 0 46 15 24.5902 HAS3 0 genome.wustl.edu 37 16 69148385 69148385 + Missense_Mutation SNP G G C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 69148385 69148385 G C SNP HAS3 ENST00000306560 human ensembl 74_37 +1 known missense c.878 p.S293T 1.000 pfam_Chitin_synth_fng,pfam_Glyco_trans_2 pfam_Chitin_synth_fng,pfam_Glyco_trans_2 - no_errors HAS3 HGNC ENSG00000103044 114 0 0 88 17 16.1905 NFAT5 0 genome.wustl.edu 37 16 69727392 69727392 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 69727392 69727392 C T SNP NFAT5 ENST00000432919 human ensembl 74_37 +1 known missense c.3664 p.P1222S 0.158 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFAT5 HGNC ENSG00000102908 161 0 0 85 18 17.4757 DDX19B 0 genome.wustl.edu 37 16 70359496 70359496 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 70359496 70359496 C T SNP DDX19B ENST00000288071 human ensembl 74_37 +1 known missense c.512 p.T171M 0.996 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd 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 DDX19B HGNC ENSG00000157349 156 0 0 135 32 19.1617 VAC14 0 genome.wustl.edu 37 16 70765531 70765531 + Splice_Site SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 70765531 70765531 C A SNP VAC14 ENST00000261776 human ensembl 74_37 -1 known splice_site c.1529-1 e14-1 1.000 - - - no_errors VAC14 HGNC ENSG00000103043 189 0 0 139 10 6.71141 MAF 0 genome.wustl.edu 37 16 79632973 79632973 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 79632973 79632973 C T SNP MAF ENST00000326043 human ensembl 74_37 -1 known missense c.827 p.R276Q 1.000 pfam_bZIP_Maf,superfamily_TF_DNA-bd pfam_bZIP_Maf,pfam_Maf_TF_N,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors MAF HGNC ENSG00000178573 36 0 0 21 3 12.5 CMIP 0 genome.wustl.edu 37 16 81641248 81641248 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 81641248 81641248 C T SNP CMIP ENST00000537098 human ensembl 74_37 +1 known missense c.377 p.P126L 1.000 NULL NULL - no_errors CMIP HGNC ENSG00000153815 115 0 0 66 18 21.4286 MSLN 0 genome.wustl.edu 37 16 816414 816414 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 816414 816414 G A SNP MSLN ENST00000382862 human ensembl 74_37 +1 known missense c.1154 p.R385H 0.004 pfam_Mesothelin pfam_Mesothelin - no_errors MSLN HGNC ENSG00000102854 121 0 0 87 29 25 CMIP 0 genome.wustl.edu 37 16 81712192 81712192 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 81712192 81712192 C T SNP CMIP ENST00000537098 human ensembl 74_37 +1 known silent c.1347 p.A449 0.785 NULL NULL - no_errors CMIP HGNC ENSG00000153815 21 0 0 15 3 16.6667 TLDC1 0 genome.wustl.edu 37 16 84520283 84520283 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 84520283 84520283 G A SNP TLDC1 ENST00000343629 human ensembl 74_37 -1 known silent c.912 p.F304 0.514 pfam_TLDc,smart_TLDc pfam_TLDc,smart_TLDc - no_errors TLDC1 HGNC ENSG00000140950 111 0 0 57 21 26.9231 KIAA0513 0 genome.wustl.edu 37 16 85112049 85112049 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 85112049 85112049 C T SNP KIAA0513 ENST00000258180 human ensembl 74_37 +1 known missense c.811 p.R271W 0.985 NULL pfam_SBF2 - no_errors KIAA0513 HGNC ENSG00000135709 40 0 0 31 6 16.2162 GSE1 0 genome.wustl.edu 37 16 85701857 85701857 + Missense_Mutation SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 85701857 85701857 G T SNP GSE1 ENST00000253458 human ensembl 74_37 +1 known missense c.3242 p.G1081V 1.000 NULL pfam_GSE-like - no_errors GSE1 HGNC ENSG00000131149 161 0 0 93 12 11.4286 METTL22 0 genome.wustl.edu 37 16 8719648 8719648 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 8719648 8719648 G A SNP METTL22 ENST00000381920 human ensembl 74_37 +1 known silent c.126 p.G42 0.994 NULL pfam_Nicotinamide_N-MeTfrase-like - no_errors METTL22 HGNC ENSG00000067365 150 0 0 142 9 5.96026 ZC3H18 0 genome.wustl.edu 37 16 88666260 88666260 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 88666260 88666260 C T SNP ZC3H18 ENST00000301011 human ensembl 74_37 +1 known missense c.992 p.T331M 0.996 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 254 1 0.392157 131 37 22.0238 CTU2 0 genome.wustl.edu 37 16 88781638 88781638 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 88781638 88781638 C T SNP CTU2 ENST00000567949 human ensembl 74_37 +1 known silent c.1740 p.D580 0.000 NULL pfam_Thiouridylase_cyt_su2 - no_errors CTU2 HGNC ENSG00000174177 65 0 0 55 4 6.77966 CDH15 0 genome.wustl.edu 37 16 89245841 89245841 + Missense_Mutation SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 89245841 89245841 G T SNP CDH15 ENST00000289746 human ensembl 74_37 +1 known missense c.60 p.L20F 0.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH15 HGNC ENSG00000129910 122 0 0 91 16 14.9533 CDH15 0 genome.wustl.edu 37 16 89254627 89254627 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 89254627 89254627 C T SNP CDH15 ENST00000289746 human ensembl 74_37 +1 known silent c.912 p.D304 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 CDH15 HGNC ENSG00000129910 36 0 0 29 4 12.1212 GRIN2A 0 genome.wustl.edu 37 16 9858518 9858518 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 9858518 9858518 G A SNP GRIN2A ENST00000330684 human ensembl 74_37 -1 known silent c.2883 p.N961 0.988 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 165 0 0 123 13 9.55882 DNAH9 0 genome.wustl.edu 37 17 11840771 11840771 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 11840771 11840771 A G SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.12592 p.T4198A 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 128 0 0 65 24 26.9663 INPP5K 0 genome.wustl.edu 37 17 1410361 1410361 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 1410361 1410361 T C SNP INPP5K ENST00000421807 human ensembl 74_37 -1 known missense c.689 p.D230G 0.992 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5K HGNC ENSG00000132376 62 0 0 36 9 20 TVP23C 0 genome.wustl.edu 37 17 15441469 15441469 + Splice_Site SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 15441469 15441469 C T SNP TVP23C ENST00000523573 human ensembl 74_37 -1 known splice_site c.162-2 e5-2 0.998 - - - no_errors TVP23C HGNC ENSG00000175106 101 0 0 89 16 15.2381 PRPF8 0 genome.wustl.edu 37 17 1579520 1579520 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 1579520 1579520 G A SNP PRPF8 ENST00000304992 human ensembl 74_37 -1 known missense c.2533 p.R845W 1.000 NULL pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_PRO8NT,pfam_Prp8_U5-snRNA-bd,pfam_PROCT,pfam_RRM_spliceosomal_PrP8,pfam_JAB_MPN_dom,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB_MPN_dom - no_errors PRPF8 HGNC ENSG00000174231 185 0 0 132 19 12.5828 SREBF1 0 genome.wustl.edu 37 17 17720296 17720296 + Missense_Mutation SNP C C G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 17720296 17720296 C G SNP SREBF1 ENST00000355815 human ensembl 74_37 -1 known missense c.1851 p.K617N 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SREBF1 HGNC ENSG00000072310 122 0 0 96 9 8.57143 TOM1L2 0 genome.wustl.edu 37 17 17754260 17754260 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 17754260 17754260 C T SNP TOM1L2 ENST00000379504 human ensembl 74_37 -1 known missense c.1285 p.V429I 1.000 pirsf_TOM1 pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1L2 HGNC ENSG00000175662 125 0 0 93 14 13.0841 MYO15A 0 genome.wustl.edu 37 17 18054563 18054563 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 18054563 18054563 C T SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known missense c.7613 p.A2538V 0.990 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 161 0 0 107 12 10.084 LLGL1 0 genome.wustl.edu 37 17 18145266 18145266 + Silent SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 18145266 18145266 G T SNP LLGL1 ENST00000316843 human ensembl 74_37 +1 known silent c.2835 p.P945 0.083 NULL pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL1 HGNC ENSG00000131899 135 0 0 80 25 23.8095 RTN4RL1 0 genome.wustl.edu 37 17 1840254 1840254 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 1840254 1840254 G A SNP RTN4RL1 ENST00000331238 human ensembl 74_37 -1 known missense c.862 p.R288W 0.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors RTN4RL1 HGNC ENSG00000185924 33 0 0 9 3 25 MFAP4 0 genome.wustl.edu 37 17 19287914 19287914 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 19287914 19287914 C T SNP MFAP4 ENST00000395592 human ensembl 74_37 -1 known missense c.701 p.R234H 0.461 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 MFAP4 HGNC ENSG00000166482 121 0 0 58 12 17.1429 KCNJ12 0 genome.wustl.edu 37 17 21319768 21319768 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 21319768 21319768 G A SNP KCNJ12 ENST00000331718 human ensembl 74_37 +1 known missense c.1114 p.A372T 0.996 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 170 0 0 108 13 10.7438 UBBP4 0 genome.wustl.edu 37 17 21731270 21731270 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 21731270 21731270 T C SNP UBBP4 ENST00000584755 human ensembl 74_37 +1 novel missense c.572 p.I191T 1.000 smart_Ubiquitin_dom pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBBP4 HGNC ENSG00000263563 105 0 0 103 13 11.2069 KSR1 0 genome.wustl.edu 37 17 25783858 25783858 + Silent SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 25783858 25783858 T C SNP KSR1 ENST00000319524 human ensembl 74_37 +1 known silent c.189 p.A63 0.748 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors KSR1 HGNC ENSG00000141068 58 0 0 45 7 13.4615 NOS2 0 genome.wustl.edu 37 17 26106007 26106007 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 26106007 26106007 G A SNP NOS2 ENST00000313735 human ensembl 74_37 -1 known silent c.1080 p.G360 0.642 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS2 HGNC ENSG00000007171 127 0 0 92 10 9.80392 SLC46A1 0 genome.wustl.edu 37 17 26731940 26731940 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 26731940 26731940 C T SNP SLC46A1 ENST00000440501 human ensembl 74_37 -1 known missense c.775 p.A259T 0.003 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC46A1 HGNC ENSG00000076351 182 0 0 134 10 6.94444 MYO18A 0 genome.wustl.edu 37 17 27493495 27493495 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 27493495 27493495 G A SNP MYO18A ENST00000354329 human ensembl 74_37 -1 known missense c.464 p.T155M 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom - no_errors MYO18A HGNC ENSG00000196535 43 0 0 37 3 7.5 NF1 0 genome.wustl.edu 37 17 29552151 29552151 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 29552151 29552151 C T SNP NF1 ENST00000358273 human ensembl 74_37 +1 known silent c.1884 p.Y628 1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 189 0 0 129 26 16.7742 SUZ12 0 genome.wustl.edu 37 17 30322710 30322710 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 30322710 30322710 C T SNP SUZ12 ENST00000322652 human ensembl 74_37 +1 known missense c.1723 p.R575C 1.000 pfam_Polycomb_protein_VEFS-Box pfam_Polycomb_protein_VEFS-Box - no_errors SUZ12 HGNC ENSG00000178691 75 0 0 47 5 9.61538 GGNBP2 0 genome.wustl.edu 37 17 34934411 34934411 + Splice_Site SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 34934411 34934411 A G SNP GGNBP2 ENST00000304718 human ensembl 74_37 +1 known splice_site c.642-2 e6-2 1.000 - - - no_errors GGNBP2 HGNC ENSG00000005955 73 0 0 65 9 12.1622 HNF1B 0 genome.wustl.edu 37 17 36099531 36099531 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 36099531 36099531 C T SNP HNF1B ENST00000225893 human ensembl 74_37 -1 known silent c.444 p.S148 0.006 pfam_HNF-1_N,superfamily_Lambda_DNA-bd_dom pfam_HNF1b_C,pfam_HNF-1_N,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HNF1B HGNC ENSG00000108753 116 0 0 64 17 20.9877 ITGAE 0 genome.wustl.edu 37 17 3651342 3651342 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 3651342 3651342 G A SNP ITGAE ENST00000263087 human ensembl 74_37 -1 known missense c.2029 p.R677W 0.971 pfam_Integrin_alpha-2,smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAE HGNC ENSG00000083457 80 0 0 69 7 9.21053 MLLT6 0 genome.wustl.edu 37 17 36872882 36872882 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 36872882 36872882 G A SNP MLLT6 ENST00000325718 human ensembl 74_37 +1 known silent c.1299 p.T433 0.000 NULL superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MLLT6 HGNC ENSG00000108292 55 0 0 36 7 16.2791 KRTAP4-8 0 genome.wustl.edu 37 17 39253886 39253886 + Missense_Mutation SNP G G C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 39253886 39253886 G C SNP KRTAP4-8 ENST00000333822 human ensembl 74_37 -1 known missense c.451 p.L151V 0.001 NULL pfam_Keratin-assoc - no_errors KRTAP4-8 HGNC ENSG00000204880 18 0 0 8 3 27.2727 KRT16 0 genome.wustl.edu 37 17 39767710 39767710 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 39767710 39767710 C T SNP KRT16 ENST00000301653 human ensembl 74_37 -1 known missense c.658 p.V220I 1.000 pfam_IF,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT16 HGNC ENSG00000186832 117 0 0 85 28 24.7788 JUP 0 genome.wustl.edu 37 17 39777909 39777909 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 39777909 39777909 C T SNP JUP ENST00000540235 human ensembl 74_37 -1 known missense c.1247 p.R416H 1.000 pfam_IF,superfamily_Prefoldin,prints_Keratin_I pfam_IF,pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo,pfscan_Armadillo,prints_Keratin_I,prints_Beta-catenin - no_errors JUP HGNC ENSG00000173801 149 0 0 82 22 21.1538 KAT2A 0 genome.wustl.edu 37 17 40272728 40272728 + Silent SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 40272728 40272728 G T SNP KAT2A ENST00000225916 human ensembl 74_37 -1 known silent c.459 p.P153 0.808 pirsf_Hist_acetylase_PCAF,pfam_PCAF_N pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom,prints_Bromodomain - no_errors KAT2A HGNC ENSG00000108773 217 0 0 167 19 10.2151 BRCA1 0 genome.wustl.edu 37 17 41244889 41244889 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 41244889 41244889 C T SNP BRCA1 ENST00000471181 human ensembl 74_37 -1 known missense c.2659 p.A887T 0.000 pirsf_BRCA1 pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING - no_errors BRCA1 HGNC ENSG00000012048 135 0 0 85 17 16.6667 ATXN7L3 0 genome.wustl.edu 37 17 42272803 42272803 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 42272803 42272803 C T SNP ATXN7L3 ENST00000454077 human ensembl 74_37 -1 known missense c.626 p.R209H 0.931 NULL pfam_SAGA_su_Sgf11,pfam_SCA7_dom - no_errors ATXN7L3 HGNC ENSG00000087152 117 0 0 56 6 9.67742 C1QL1 0 genome.wustl.edu 37 17 43037709 43037709 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 43037709 43037709 G A SNP C1QL1 ENST00000253407 human ensembl 74_37 -1 known silent c.624 p.D208 0.999 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QL1 HGNC ENSG00000131094 83 0 0 47 9 16.0714 CRHR1 0 genome.wustl.edu 37 17 43907907 43907907 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 43907907 43907907 G A SNP CRHR1 ENST00000398285 human ensembl 74_37 +1 known missense c.767 p.R256H 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF1_rcpt,prints_GPCR_2_diuretic_rcpt - no_errors CRHR1 HGNC ENSG00000120088 178 0 0 133 10 6.99301 SMTNL2 0 genome.wustl.edu 37 17 4510676 4510676 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 4510676 4510676 G A SNP SMTNL2 ENST00000389313 human ensembl 74_37 +1 known missense c.1280 p.R427H 1.000 pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTNL2 HGNC ENSG00000188176 328 0 0 240 49 16.955 NFE2L1 0 genome.wustl.edu 37 17 46136685 46136685 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 46136685 46136685 G A SNP NFE2L1 ENST00000362042 human ensembl 74_37 +1 known silent c.2001 p.A667 0.325 pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L1 HGNC ENSG00000082641 93 0 0 71 12 14.4578 HOXB5 0 genome.wustl.edu 37 17 46670721 46670721 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 46670721 46670721 G A SNP HOXB5 ENST00000239151 human ensembl 74_37 -1 known silent c.324 p.H108 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXB5 HGNC ENSG00000120075 56 0 0 32 10 23.8095 HOXB6 0 genome.wustl.edu 37 17 46673804 46673804 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 46673804 46673804 C T SNP HOXB6 ENST00000225648 human ensembl 74_37 -1 known missense c.646 p.E216K 0.998 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXB6 HGNC ENSG00000108511 336 0 0 178 76 29.9213 NGFR 0 genome.wustl.edu 37 17 47583740 47583740 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 47583740 47583740 G A SNP NGFR ENST00000172229 human ensembl 74_37 +1 known silent c.288 p.S96 0.082 pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_16 - no_errors NGFR HGNC ENSG00000064300 72 0 0 28 5 15.1515 EPN3 0 genome.wustl.edu 37 17 48613990 48613990 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 48613990 48613990 C T SNP EPN3 ENST00000268933 human ensembl 74_37 +1 known missense c.73 p.R25C 1.000 pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N pfam_Epsin_dom_N,pfam_Ubiquitin-int_motif,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN3 HGNC ENSG00000049283 125 0 0 67 20 22.9885 ABCC3 0 genome.wustl.edu 37 17 48742598 48742598 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 48742598 48742598 G A SNP ABCC3 ENST00000285238 human ensembl 74_37 +1 known missense c.1423 p.A475T 0.965 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC3 HGNC ENSG00000108846 72 0 0 39 12 23.5294 CA10 0 genome.wustl.edu 37 17 50212314 50212314 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 50212314 50212314 C T SNP CA10 ENST00000340813 human ensembl 74_37 -1 known missense c.4 p.A2T 0.004 NULL pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA10 HGNC ENSG00000154975 59 0 0 39 10 20.4082 ZNF594 0 genome.wustl.edu 37 17 5085407 5085407 + Silent SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 5085407 5085407 T C SNP ZNF594 ENST00000399604 human ensembl 74_37 -1 known silent c.2145 p.K715 0.612 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF594 HGNC ENSG00000180626 192 0 0 108 39 26.5306 MRC2 0 genome.wustl.edu 37 17 60768086 60768086 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 60768086 60768086 C T SNP MRC2 ENST00000303375 human ensembl 74_37 +1 known missense c.3976 p.R1326W 0.946 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC2 HGNC ENSG00000011028 66 0 0 46 12 20.6897 SLC16A6P1 0 genome.wustl.edu 37 17 62950457 62950457 + RNA SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 62950457 62950457 C T SNP SLC16A6P1 ENST00000577423 human ensembl 74_37 +1 known rna NULL NULL 0.910 - - - no_errors SLC16A6P1 HGNC ENSG00000232457 97 0 0 62 19 23.4568 KPNA2 0 genome.wustl.edu 37 17 66033572 66033572 + Silent SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 66033572 66033572 T C SNP KPNA2 ENST00000330459 human ensembl 74_37 +1 known silent c.174 p.D58 1.000 pfam_Importin-a_IBB,superfamily_ARM-type_fold,pfscan_Importin-a_IBB pfam_Armadillo,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA2 HGNC ENSG00000182481 127 0 0 98 8 7.54717 PRKAR1A 0 genome.wustl.edu 37 17 66511558 66511558 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 66511558 66511558 C T SNP PRKAR1A ENST00000358598 human ensembl 74_37 +1 known silent c.18 p.T6 0.200 pirsf_cAMP_dep_PK_reg_su pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin - no_errors PRKAR1A HGNC ENSG00000108946 65 0 0 47 15 24.1935 KCNJ16 0 genome.wustl.edu 37 17 68128882 68128882 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 68128882 68128882 C T SNP KCNJ16 ENST00000283936 human ensembl 74_37 +1 known silent c.654 p.A218 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir5,prints_K_chnl_inward-rec_Kir - no_errors KCNJ16 HGNC ENSG00000153822 93 0 0 69 19 21.5909 BCL6B 0 genome.wustl.edu 37 17 6927490 6927490 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 6927490 6927490 G A SNP BCL6B ENST00000293805 human ensembl 74_37 +1 known missense c.268 p.A90T 0.984 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors BCL6B HGNC ENSG00000161940 238 0 0 170 18 9.57447 HN1 0 genome.wustl.edu 37 17 73144758 73144758 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 73144758 73144758 C T SNP HN1 ENST00000356033 human ensembl 74_37 -1 known missense c.65 p.R22Q 1.000 NULL NULL - no_errors HN1 HGNC ENSG00000189159 49 0 0 40 5 11.1111 ST6GALNAC2 0 genome.wustl.edu 37 17 74562348 74562348 + Silent SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 74562348 74562348 A G SNP ST6GALNAC2 ENST00000225276 human ensembl 74_37 -1 known silent c.963 p.S321 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST6GALNAC2 HGNC ENSG00000070731 180 0 0 108 37 25.5172 TP53 0 genome.wustl.edu 37 17 7579313 7579313 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 7579313 7579313 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.374 p.T125M 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 108 0 0 96 18 15.7895 CANT1 0 genome.wustl.edu 37 17 76989922 76989922 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 76989922 76989922 G A SNP CANT1 ENST00000302345 human ensembl 74_37 -1 known missense c.916 p.R306C 1.000 pfam_Apyrase,superfamily_Apyrase pfam_Apyrase,superfamily_Apyrase - no_errors CANT1 HGNC ENSG00000171302 35 0 0 23 2 8 TBC1D16 0 genome.wustl.edu 37 17 77926601 77926601 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 77926601 77926601 C T SNP TBC1D16 ENST00000310924 human ensembl 74_37 -1 known missense c.796 p.D266N 0.984 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D16 HGNC ENSG00000167291 84 0 0 69 14 16.8675 RPTOR 0 genome.wustl.edu 37 17 78865536 78865536 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 78865536 78865536 T C SNP RPTOR ENST00000306801 human ensembl 74_37 +1 known missense c.2000 p.L667P 1.000 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 232 0 0 176 24 12 CHMP6 0 genome.wustl.edu 37 17 78971112 78971112 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 78971112 78971112 A G SNP CHMP6 ENST00000325167 human ensembl 74_37 +1 known missense c.466 p.I156V 1.000 pfam_Snf7 pfam_Snf7 - no_errors CHMP6 HGNC ENSG00000176108 61 0 0 43 16 27.1186 ALOX15B 0 genome.wustl.edu 37 17 7942761 7942761 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 7942761 7942761 G A SNP ALOX15B ENST00000380183 human ensembl 74_37 +1 known missense c.205 p.V69M 0.327 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX15B HGNC ENSG00000179593 30 0 0 15 6 28.5714 CCDC137 0 genome.wustl.edu 37 17 79637353 79637353 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 79637353 79637353 G A SNP CCDC137 ENST00000329214 human ensembl 74_37 +1 known missense c.367 p.G123R 0.000 NULL NULL - no_errors CCDC137 HGNC ENSG00000185298 57 0 0 53 5 8.62069 ALOX12B 0 genome.wustl.edu 37 17 7976517 7976517 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 7976517 7976517 C T SNP ALOX12B ENST00000319144 human ensembl 74_37 -1 known silent c.1875 p.T625 0.022 pfam_LipOase_C,superfamily_LipOase_C,prints_LipOase_mml pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_C,prints_LipOase_mml - no_errors ALOX12B HGNC ENSG00000179477 307 1 0.324675 198 33 14.2857 PPP1R27 0 genome.wustl.edu 37 17 79792774 79792774 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 79792774 79792774 C T SNP PPP1R27 ENST00000330261 human ensembl 74_37 -1 known missense c.56 p.R19Q 0.046 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R27 HGNC ENSG00000182676 50 0 0 32 3 8.57143 ARHGEF15 0 genome.wustl.edu 37 17 8221898 8221898 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 8221898 8221898 G A SNP ARHGEF15 ENST00000361926 human ensembl 74_37 +1 known missense c.1790 p.R597H 0.960 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ENSG00000198844 84 0 0 44 10 18.5185 ARHGEF15 0 genome.wustl.edu 37 17 8222917 8222917 + Silent SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 8222917 8222917 T C SNP ARHGEF15 ENST00000361926 human ensembl 74_37 +1 known silent c.2370 p.P790 0.683 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ENSG00000198844 177 0 0 108 8 6.89655 GAS7 0 genome.wustl.edu 37 17 9873070 9873070 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 9873070 9873070 T C SNP GAS7 ENST00000432992 human ensembl 74_37 -1 known missense c.395 p.Y132C 1.000 NULL pfam_FCH_dom,pfam_WW_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_WW_dom,smart_SH3_domain,smart_WW_dom,smart_FCH_dom,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_WW_dom - no_errors GAS7 HGNC ENSG00000007237 107 1 0.925926 93 21 18.4211 OSBPL1A 0 genome.wustl.edu 37 18 21759794 21759794 + Silent SNP T T G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 18 21759794 21759794 T G SNP OSBPL1A ENST00000319481 human ensembl 74_37 -1 known silent c.1818 p.V606 0.718 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt - no_errors OSBPL1A HGNC ENSG00000141447 45 0 0 35 3 7.89474 TAF4B 0 genome.wustl.edu 37 18 23866046 23866046 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 18 23866046 23866046 G A SNP TAF4B ENST00000269142 human ensembl 74_37 +1 known silent c.1173 p.V391 0.992 NULL pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4B HGNC ENSG00000141384 125 0 0 93 20 17.6991 GAREM 0 genome.wustl.edu 37 18 29867794 29867794 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 18 29867794 29867794 G A SNP GAREM ENST00000269209 human ensembl 74_37 -1 known missense c.766 p.P256S 1.000 NULL superfamily_SAM/pointed - no_errors GAREM HGNC ENSG00000141441 170 0 0 110 17 13.3858 SLC14A2 0 genome.wustl.edu 37 18 43248435 43248435 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 18 43248435 43248435 A G SNP SLC14A2 ENST00000255226 human ensembl 74_37 +1 known missense c.2029 p.M677V 1.000 pfam_Urea_transporter pfam_Urea_transporter - no_errors SLC14A2 HGNC ENSG00000132874 71 0 0 59 9 13.2353 EPB41L3 0 genome.wustl.edu 37 18 5419778 5419778 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 18 5419778 5419778 C T SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known missense c.1438 p.E480K 0.931 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 108 1 0.917431 46 16 25.8065 ALPK2 0 genome.wustl.edu 37 18 56149219 56149219 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 18 56149219 56149219 C A SNP ALPK2 ENST00000361673 human ensembl 74_37 -1 known missense c.6349 p.A2117S 1.000 pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK2 HGNC ENSG00000198796 158 0 0 127 13 9.28571 TMEM200C 0 genome.wustl.edu 37 18 5891517 5891517 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 18 5891517 5891517 G A SNP TMEM200C ENST00000383490 human ensembl 74_37 -1 known silent c.546 p.C182 1.000 pfam_DUF2371_TMEM200 pfam_DUF2371_TMEM200 - no_errors TMEM200C HGNC ENSG00000206432 33 0 0 26 4 13.3333 TMX3 0 genome.wustl.edu 37 18 66358524 66358524 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 18 66358524 66358524 G A SNP TMX3 ENST00000443099 human ensembl 74_37 -1 putative silent c.564 p.F188 0.000 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin - no_errors TMX3 HGNC ENSG00000166479 29 0 0 18 3 14.2857 NETO1 0 genome.wustl.edu 37 18 70534535 70534535 + RNA SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 18 70534535 70534535 G A SNP NETO1 ENST00000579730 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors NETO1 HGNC ENSG00000166342 27 0 0 14 6 30 ZNF516 0 genome.wustl.edu 37 18 74153912 74153912 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 18 74153912 74153912 C T SNP ZNF516 ENST00000443185 human ensembl 74_37 -1 known missense c.1099 p.A367T 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF516 HGNC ENSG00000101493 43 0 0 21 6 22.2222 SALL3 0 genome.wustl.edu 37 18 76754898 76754898 + Missense_Mutation SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 18 76754898 76754898 G T SNP SALL3 ENST00000537592 human ensembl 74_37 +1 known missense c.2907 p.R969S 0.995 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 34 0 0 15 4 21.0526 KCNG2 0 genome.wustl.edu 37 18 77623823 77623823 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 18 77623823 77623823 C T SNP KCNG2 ENST00000316249 human ensembl 74_37 +1 known silent c.156 p.H52 0.985 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv - no_errors KCNG2 HGNC ENSG00000178342 15 0 0 12 4 25 SOGA2 0 genome.wustl.edu 37 18 8825914 8825914 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 18 8825914 8825914 G A SNP SOGA2 ENST00000359865 human ensembl 74_37 +1 known missense c.4406 p.R1469Q 0.995 NULL pfam_SOGA - no_errors SOGA2 HGNC ENSG00000168502 75 0 0 49 11 18.3333 DNM2 0 genome.wustl.edu 37 19 10906072 10906072 + Nonsense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 10906072 10906072 C T SNP DNM2 ENST00000314646 human ensembl 74_37 +1 known nonsense c.1153 p.R385* 0.011 pfam_Dynamin_central pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF - no_errors DNM2 HGNC ENSG00000079805 132 0 0 123 14 10.219 CCDC151 0 genome.wustl.edu 37 19 11531506 11531506 + Silent SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 11531506 11531506 G T SNP CCDC151 ENST00000356392 human ensembl 74_37 -1 known silent c.1785 p.S595 0.118 NULL NULL - no_errors CCDC151 HGNC ENSG00000198003 86 0 0 42 16 27.5862 CIRBP 0 genome.wustl.edu 37 19 1272348 1272348 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 1272348 1272348 G A SNP CIRBP ENST00000444172 human ensembl 74_37 +1 known missense c.641 p.R214H 0.119 NULL NULL - no_errors CIRBP HGNC ENSG00000099622 106 0 0 69 25 26.5957 TNPO2 0 genome.wustl.edu 37 19 12812592 12812592 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 12812592 12812592 C T SNP TNPO2 ENST00000425528 human ensembl 74_37 -1 known missense c.2485 p.G829S 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors TNPO2 HGNC ENSG00000105576 146 0 0 102 10 8.92857 MAST1 0 genome.wustl.edu 37 19 12985260 12985260 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 12985260 12985260 G A SNP MAST1 ENST00000251472 human ensembl 74_37 +1 known missense c.4289 p.G1430D 0.785 NULL 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 MAST1 HGNC ENSG00000105613 69 0 0 54 6 10 NACC1 0 genome.wustl.edu 37 19 13249068 13249068 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 13249068 13249068 A G SNP NACC1 ENST00000292431 human ensembl 74_37 +1 known missense c.1432 p.K478E 1.000 NULL pfam_BTB_POZ,pfam_BEN_domain,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors NACC1 HGNC ENSG00000160877 285 0 0 136 37 21.3873 ILVBL 0 genome.wustl.edu 37 19 15226969 15226969 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 15226969 15226969 C T SNP ILVBL ENST00000263383 human ensembl 74_37 -1 known missense c.1465 p.D489N 0.998 pfam_TPP_enzyme-bd_C pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_TPP_enzyme-bd_C,pfam_Thiamin_PyroP_enz_cen_dom - no_errors ILVBL HGNC ENSG00000105135 94 0 0 53 14 20.8955 NOTCH3 0 genome.wustl.edu 37 19 15281358 15281358 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 15281358 15281358 G A SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known missense c.4898 p.P1633L 0.152 pirsf_Notch,pfam_Notch_NODP_dom,prints_Notch_3 pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 41 0 0 16 6 27.2727 WIZ 0 genome.wustl.edu 37 19 15533994 15533994 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 15533994 15533994 G A SNP WIZ ENST00000389282 human ensembl 74_37 -1 known missense c.4849 p.R1617W 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC ENSG00000011451 65 0 0 37 7 15.9091 PGLYRP2 0 genome.wustl.edu 37 19 15586525 15586525 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 15586525 15586525 C T SNP PGLYRP2 ENST00000292609 human ensembl 74_37 -1 known missense c.956 p.R319Q 1.000 NULL pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain - no_errors PGLYRP2 HGNC ENSG00000161031 61 0 0 38 14 26.9231 CYP4F22 0 genome.wustl.edu 37 19 15661545 15661545 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 15661545 15661545 G A SNP CYP4F22 ENST00000269703 human ensembl 74_37 +1 known missense c.1396 p.V466M 0.024 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F22 HGNC ENSG00000171954 143 0 0 126 10 7.35294 ANO8 0 genome.wustl.edu 37 19 17442127 17442127 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 17442127 17442127 G A SNP ANO8 ENST00000159087 human ensembl 74_37 -1 known missense c.680 p.A227V 0.999 NULL pfam_Anoctamin - no_errors ANO8 HGNC ENSG00000074855 97 0 0 69 6 8 FAM129C 0 genome.wustl.edu 37 19 17664122 17664122 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 17664122 17664122 C T SNP FAM129C ENST00000335393 human ensembl 74_37 +1 known missense c.1844 p.A615V 0.077 NULL smart_Pleckstrin_homology - no_errors FAM129C HGNC ENSG00000167483 214 0 0 146 33 18.4358 ATP8B3 0 genome.wustl.edu 37 19 1796868 1796868 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 1796868 1796868 T C SNP ATP8B3 ENST00000539485 human ensembl 74_37 -1 known missense c.1595 p.Y532C 0.006 pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B3 HGNC ENSG00000130270 53 0 0 32 5 13.5135 PIK3R2 0 genome.wustl.edu 37 19 18278091 18278091 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 18278091 18278091 C T SNP PIK3R2 ENST00000222254 human ensembl 74_37 +1 known missense c.1711 p.R571C 1.000 prints_PI3kinase_P85 pfam_SH2,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R2 HGNC ENSG00000105647 118 0 0 77 12 13.4831 UPF1 0 genome.wustl.edu 37 19 18967816 18967816 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 18967816 18967816 T C SNP UPF1 ENST00000599848 human ensembl 74_37 +1 known missense c.1988 p.L663P 0.994 superfamily_P-loop_NTPase pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase - no_errors UPF1 HGNC ENSG00000005007 171 1 0.581395 116 32 21.6216 CSNK1G2 0 genome.wustl.edu 37 19 1969862 1969862 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 1969862 1969862 C T SNP CSNK1G2 ENST00000255641 human ensembl 74_37 +1 known missense c.91 p.R31W 0.920 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Casein_kinase-1_gamma_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK1G2 HGNC ENSG00000133275 40 0 0 29 4 12.1212 GMIP 0 genome.wustl.edu 37 19 19744697 19744697 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 19744697 19744697 T C SNP GMIP ENST00000203556 human ensembl 74_37 -1 known missense c.2387 p.Q796R 0.013 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors GMIP HGNC ENSG00000089639 25 0 0 9 3 25 ATP13A1 0 genome.wustl.edu 37 19 19765378 19765378 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 19765378 19765378 G A SNP ATP13A1 ENST00000357324 human ensembl 74_37 -1 known missense c.1787 p.T596M 0.998 pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A1 HGNC ENSG00000105726 71 0 0 44 11 20 CSNK1G2 0 genome.wustl.edu 37 19 1979024 1979024 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 1979024 1979024 C T SNP CSNK1G2 ENST00000255641 human ensembl 74_37 +1 known missense c.614 p.P205L 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Casein_kinase-1_gamma_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK1G2 HGNC ENSG00000133275 85 0 0 39 13 25 ZNF714 0 genome.wustl.edu 37 19 21300088 21300088 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 21300088 21300088 C T SNP ZNF714 ENST00000596143 human ensembl 74_37 +1 known silent c.618 p.G206 0.998 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF714 HGNC ENSG00000160352 70 0 0 45 4 8.16327 AP3D1 0 genome.wustl.edu 37 19 2132534 2132534 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 2132534 2132534 G A SNP AP3D1 ENST00000355272 human ensembl 74_37 -1 known missense c.398 p.T133M 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu - no_errors AP3D1 HGNC ENSG00000065000 174 0 0 122 28 18.6667 ZNF257 0 genome.wustl.edu 37 19 22255611 22255611 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 22255611 22255611 G A SNP ZNF257 ENST00000594947 human ensembl 74_37 +1 known missense c.4 p.G2R 0.968 superfamily_Krueppel-associated_box 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 138 0 0 66 9 12 ZNF676 0 genome.wustl.edu 37 19 22363522 22363522 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 22363522 22363522 C T SNP ZNF676 ENST00000397121 human ensembl 74_37 -1 known missense c.997 p.G333R 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 124 0 0 80 14 14.8936 POP4 0 genome.wustl.edu 37 19 30106265 30106265 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 30106265 30106265 C T SNP POP4 ENST00000585603 human ensembl 74_37 +1 known missense c.641 p.A214V 0.668 superfamily_Rof/RNase_P-like,smart_RNase_P/MRP_p29,pirsf_RNase_P/MRP_p29-subunit pfam_RNase_P/MRP_p29,superfamily_Rof/RNase_P-like,smart_RNase_P/MRP_p29,pirsf_RNase_P/MRP_p29-subunit - no_errors POP4 HGNC ENSG00000105171 95 0 0 61 9 12.8571 USF2 0 genome.wustl.edu 37 19 35770094 35770094 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 35770094 35770094 G A SNP USF2 ENST00000222305 human ensembl 74_37 +1 known missense c.976 p.A326T 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors USF2 HGNC ENSG00000105698 17 0 0 16 2 11.1111 MAG 0 genome.wustl.edu 37 19 35786696 35786696 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 35786696 35786696 C T SNP MAG ENST00000392213 human ensembl 74_37 +1 known missense c.227 p.S76L 1.000 smart_Ig_sub pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MAG HGNC ENSG00000105695 234 0 0 158 16 9.1954 ATP4A 0 genome.wustl.edu 37 19 36053496 36053496 + Silent SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 36053496 36053496 C A SNP ATP4A ENST00000262623 human ensembl 74_37 -1 known silent c.261 p.G87 0.998 pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP4A HGNC ENSG00000105675 20 0 0 16 4 20 RBM42 0 genome.wustl.edu 37 19 36124665 36124665 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 36124665 36124665 C T SNP RBM42 ENST00000262633 human ensembl 74_37 +1 known missense c.761 p.A254V 0.816 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM42 HGNC ENSG00000126254 13 0 0 17 2 10.5263 HCST 0 genome.wustl.edu 37 19 36394742 36394742 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 36394742 36394742 G A SNP HCST ENST00000246551 human ensembl 74_37 +1 known missense c.178 p.A60T 0.000 pfam_DAP10 pfam_DAP10 - no_errors HCST HGNC ENSG00000126264 49 0 0 43 5 10.4167 ZNF260 0 genome.wustl.edu 37 19 37006132 37006132 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 37006132 37006132 G A SNP ZNF260 ENST00000523638 human ensembl 74_37 -1 known silent c.9 p.G3 0.402 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF260 HGNC ENSG00000254004 33 0 0 20 5 20 ZNF790 0 genome.wustl.edu 37 19 37310583 37310583 + Silent SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 37310583 37310583 A G SNP ZNF790 ENST00000356725 human ensembl 74_37 -1 known silent c.663 p.T221 0.795 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 ZNF790 HGNC ENSG00000197863 72 0 0 37 13 26 ZFR2 0 genome.wustl.edu 37 19 3819148 3819148 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 3819148 3819148 G A SNP ZFR2 ENST00000262961 human ensembl 74_37 -1 known missense c.1826 p.A609V 0.998 NULL pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR2 HGNC ENSG00000105278 47 0 0 36 9 20 DPF1 0 genome.wustl.edu 37 19 38704286 38704286 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 38704286 38704286 C T SNP DPF1 ENST00000355526 human ensembl 74_37 -1 known missense c.1090 p.D364N 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_C2H2-like,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2 - no_errors DPF1 HGNC ENSG00000011332 123 0 0 79 27 25.4717 RYR1 0 genome.wustl.edu 37 19 38987106 38987106 + Nonsense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 38987106 38987106 C T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known nonsense c.6721 p.R2241* 1.000 pfam_Ca-rel_channel 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,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 115 0 0 76 4 5 CAPN12 0 genome.wustl.edu 37 19 39221758 39221758 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 39221758 39221758 G A SNP CAPN12 ENST00000328867 human ensembl 74_37 -1 known missense c.2063 p.T688I 1.000 NULL pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN12 HGNC ENSG00000182472 46 0 0 22 8 26.6667 CAPN12 0 genome.wustl.edu 37 19 39229238 39229238 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 39229238 39229238 C T SNP CAPN12 ENST00000328867 human ensembl 74_37 -1 known silent c.780 p.A260 0.027 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN12 HGNC ENSG00000182472 85 0 0 51 15 22.7273 PSMC4 0 genome.wustl.edu 37 19 40485978 40485978 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 40485978 40485978 C T SNP PSMC4 ENST00000157812 human ensembl 74_37 +1 known silent c.843 p.A281 0.987 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC4 HGNC ENSG00000013275 71 0 0 50 9 15.2542 AKT2 0 genome.wustl.edu 37 19 40743902 40743902 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 40743902 40743902 G A SNP AKT2 ENST00000392038 human ensembl 74_37 -1 known missense c.805 p.R269W 0.292 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom - no_errors AKT2 HGNC ENSG00000105221 38 0 0 32 4 11.1111 MAP2K2 0 genome.wustl.edu 37 19 4099243 4099243 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 4099243 4099243 T C SNP MAP2K2 ENST00000262948 human ensembl 74_37 -1 known missense c.875 p.H292R 0.997 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 22 0 0 9 3 25 C19orf54 0 genome.wustl.edu 37 19 41249853 41249853 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 41249853 41249853 C T SNP C19orf54 ENST00000596809 human ensembl 74_37 -1 known missense c.137 p.R46H 0.137 NULL NULL - no_errors C19orf54 HGNC ENSG00000188493 145 0 0 92 21 18.5841 HNRNPUL1 0 genome.wustl.edu 37 19 41798223 41798223 + Missense_Mutation SNP T T A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 41798223 41798223 T A SNP HNRNPUL1 ENST00000392006 human ensembl 74_37 +1 known missense c.1073 p.I358N 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_SAP_dom,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom - no_errors HNRNPUL1 HGNC ENSG00000105323 239 0 0 137 58 29.7436 CEACAM4 0 genome.wustl.edu 37 19 42132059 42132059 + Missense_Mutation SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 42132059 42132059 G T SNP CEACAM4 ENST00000221954 human ensembl 74_37 -1 known missense c.340 p.L114M 0.001 pfam_Ig_V-set,pfscan_Ig-like_dom pfam_Ig_V-set,pfscan_Ig-like_dom - no_errors CEACAM4 HGNC ENSG00000105352 232 0 0 180 13 6.73575 GRIK5 0 genome.wustl.edu 37 19 42546801 42546801 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 42546801 42546801 C T SNP GRIK5 ENST00000301218 human ensembl 74_37 -1 known missense c.1376 p.R459H 1.000 pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd 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 GRIK5 HGNC ENSG00000105737 110 0 0 68 15 18.0723 ZNF526 0 genome.wustl.edu 37 19 42729088 42729088 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 42729088 42729088 C A SNP ZNF526 ENST00000301215 human ensembl 74_37 +1 known missense c.533 p.P178H 0.028 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF526 HGNC ENSG00000167625 202 0 0 118 27 18.6207 GSK3A 0 genome.wustl.edu 37 19 42736801 42736801 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 42736801 42736801 C T SNP GSK3A ENST00000222330 human ensembl 74_37 -1 known missense c.1132 p.A378T 0.991 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 - no_errors GSK3A HGNC ENSG00000105723 68 0 0 55 3 5.17241 CXCL17 0 genome.wustl.edu 37 19 42933119 42933119 + Missense_Mutation SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 42933119 42933119 G T SNP CXCL17 ENST00000601181 human ensembl 74_37 -1 known missense c.277 p.H93N 0.989 NULL NULL - no_errors CXCL17 HGNC ENSG00000189377 242 0 0 223 18 7.46888 PSG3 0 genome.wustl.edu 37 19 43244504 43244504 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 43244504 43244504 C T SNP PSG3 ENST00000327495 human ensembl 74_37 -1 known silent c.33 p.Q11 0.004 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG3 HGNC ENSG00000221826 251 0 0 197 11 5.28846 ZNF575 0 genome.wustl.edu 37 19 44039443 44039443 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 44039443 44039443 C T SNP ZNF575 ENST00000314228 human ensembl 74_37 +1 known silent c.342 p.S114 0.562 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF575 HGNC ENSG00000176472 46 0 0 51 4 7.27273 CHAF1A 0 genome.wustl.edu 37 19 4409665 4409665 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 4409665 4409665 C T SNP CHAF1A ENST00000301280 human ensembl 74_37 +1 known missense c.869 p.P290L 0.627 NULL pfam_CAF1A - no_errors CHAF1A HGNC ENSG00000167670 121 0 0 74 33 30.8411 UBXN6 0 genome.wustl.edu 37 19 4446179 4446179 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 4446179 4446179 C T SNP UBXN6 ENST00000301281 human ensembl 74_37 -1 known missense c.1067 p.R356Q 1.000 pfam_UBX,smart_UBX,pfscan_UBX pfam_PUB_domain,pfam_UBX,smart_PUG-dom,smart_UBX,pfscan_UBX - no_errors UBXN6 HGNC ENSG00000167671 37 0 0 21 7 25 ZNF227 0 genome.wustl.edu 37 19 44740799 44740799 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 44740799 44740799 C T SNP ZNF227 ENST00000313040 human ensembl 74_37 +1 known missense c.2216 p.T739I 0.981 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 ZNF227 HGNC ENSG00000131115 124 0 0 83 26 23.8532 ZNF233 0 genome.wustl.edu 37 19 44778460 44778460 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 44778460 44778460 G A SNP ZNF233 ENST00000391958 human ensembl 74_37 +1 known silent c.1647 p.S549 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 ZNF233 HGNC ENSG00000159915 106 0 0 51 18 26.087 CLASRP 0 genome.wustl.edu 37 19 45573816 45573816 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 45573816 45573816 G A SNP CLASRP ENST00000221455 human ensembl 74_37 +1 known missense c.1979 p.R660Q 0.999 NULL pfam_SWAP_N_domain - no_errors CLASRP HGNC ENSG00000104859 380 0 0 208 65 23.8095 ERCC2 0 genome.wustl.edu 37 19 45856015 45856015 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 45856015 45856015 G A SNP ERCC2 ENST00000391945 human ensembl 74_37 -1 known missense c.1891 p.R631C 1.000 superfamily_P-loop_NTPase,smart_ATP-dep_Helicase_C,tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DUF1227,pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,prints_XPGD_DNA_repair,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors ERCC2 HGNC ENSG00000104884 121 0 0 84 10 10.6383 FBXO46 0 genome.wustl.edu 37 19 46215840 46215840 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 46215840 46215840 G A SNP FBXO46 ENST00000317683 human ensembl 74_37 -1 known missense c.914 p.T305I 1.000 NULL superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO46 HGNC ENSG00000177051 30 0 0 17 2 10.5263 SIX5 0 genome.wustl.edu 37 19 46269033 46269033 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 46269033 46269033 G A SNP SIX5 ENST00000317578 human ensembl 74_37 -1 known missense c.1946 p.A649V 0.001 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX5 HGNC ENSG00000177045 90 0 0 46 15 24.5902 RSPH6A 0 genome.wustl.edu 37 19 46299296 46299296 + Missense_Mutation SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 46299296 46299296 G T SNP RSPH6A ENST00000221538 human ensembl 74_37 -1 known missense c.1985 p.P662Q 1.000 pfam_Radial_spoke pfam_Radial_spoke - no_errors RSPH6A HGNC ENSG00000104941 286 0 0 207 42 16.8675 DPP9 0 genome.wustl.edu 37 19 4690888 4690888 + Splice_Site SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 4690888 4690888 A G SNP DPP9 ENST00000262960 human ensembl 74_37 -1 known splice_site c.1596+2 e12+2 1.000 - - - no_errors DPP9 HGNC ENSG00000142002 35 0 0 31 3 8.82353 PRKD2 0 genome.wustl.edu 37 19 47177801 47177801 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 47177801 47177801 C T SNP PRKD2 ENST00000291281 human ensembl 74_37 -1 known silent c.2616 p.A872 0.008 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD2 HGNC ENSG00000105287 35 0 0 28 3 9.67742 SAE1 0 genome.wustl.edu 37 19 47700504 47700504 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 47700504 47700504 C T SNP SAE1 ENST00000270225 human ensembl 74_37 +1 known missense c.748 p.R250C 1.000 superfamily_Molybdenum_cofac_synth_MoeB pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like - no_errors SAE1 HGNC ENSG00000142230 138 0 0 96 17 15.0442 SAE1 0 genome.wustl.edu 37 19 47712468 47712468 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 47712468 47712468 T C SNP SAE1 ENST00000270225 human ensembl 74_37 +1 known missense c.1001 p.M334T 1.000 superfamily_Molybdenum_cofac_synth_MoeB pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like - no_errors SAE1 HGNC ENSG00000142230 122 0 0 102 10 8.92857 C5AR2 0 genome.wustl.edu 37 19 47844468 47844468 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 47844468 47844468 G A SNP C5AR2 ENST00000257267 human ensembl 74_37 +1 known missense c.412 p.G138R 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Anaphtx_C5AR1/C5AR2 - no_errors C5AR2 HGNC ENSG00000134830 184 0 0 158 11 6.50888 DHX34 0 genome.wustl.edu 37 19 47858495 47858495 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 47858495 47858495 G A SNP DHX34 ENST00000328771 human ensembl 74_37 +1 known missense c.905 p.R302Q 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_Helicase-assoc_dom,pfam_DUF1605,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 DHX34 HGNC ENSG00000134815 171 0 0 128 32 20 GRIN2D 0 genome.wustl.edu 37 19 48918247 48918247 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 48918247 48918247 C T SNP GRIN2D ENST00000263269 human ensembl 74_37 +1 known silent c.1539 p.H513 1.000 pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2D HGNC ENSG00000105464 111 0 0 61 25 29.0698 SEC1P 0 genome.wustl.edu 37 19 49183678 49183678 + RNA SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 49183678 49183678 A G SNP SEC1P ENST00000430145 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors SEC1P HGNC ENSG00000232871 76 0 0 44 12 21.4286 UHRF1 0 genome.wustl.edu 37 19 4944449 4944449 + RNA SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 4944449 4944449 G A SNP UHRF1 ENST00000262952 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors UHRF1 HGNC ENSG00000034063 97 0 0 59 10 14.4928 KCNA7 0 genome.wustl.edu 37 19 49575417 49575417 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 49575417 49575417 C T SNP KCNA7 ENST00000221444 human ensembl 74_37 -1 known silent c.426 p.A142 1.000 prints_K_chnl,prints_K_chnl_volt-dep_Kv1 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1 - no_errors KCNA7 HGNC ENSG00000104848 70 0 0 65 11 14.4737 RPL13A 0 genome.wustl.edu 37 19 49994304 49994304 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 49994304 49994304 G A SNP RPL13A ENST00000391857 human ensembl 74_37 +1 known missense c.350 p.R117Q 1.000 pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,tigrfam_Ribosomal_L13_euk/arc pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,tigrfam_Ribosomal_L13_euk/arc - no_errors RPL13A HGNC ENSG00000142541 95 0 0 69 4 5.47945 CPT1C 0 genome.wustl.edu 37 19 50208537 50208537 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 50208537 50208537 A G SNP CPT1C ENST00000323446 human ensembl 74_37 +1 known missense c.946 p.I316V 0.001 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT1C HGNC ENSG00000169169 166 0 0 118 11 8.52713 CPT1C 0 genome.wustl.edu 37 19 50210827 50210827 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 50210827 50210827 C A SNP CPT1C ENST00000323446 human ensembl 74_37 +1 known missense c.1396 p.L466I 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT1C HGNC ENSG00000169169 79 0 0 56 5 8.19672 ZNF473 0 genome.wustl.edu 37 19 50549303 50549303 + Missense_Mutation SNP A A T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 50549303 50549303 A T SNP ZNF473 ENST00000270617 human ensembl 74_37 +1 known missense c.1603 p.S535C 0.278 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 ZNF473 HGNC ENSG00000142528 111 0 0 81 7 7.95455 MYH14 0 genome.wustl.edu 37 19 50720966 50720966 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 50720966 50720966 G A SNP MYH14 ENST00000262269 human ensembl 74_37 +1 known missense c.500 p.R167H 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 146 0 0 104 12 10.3448 SHANK1 0 genome.wustl.edu 37 19 51169816 51169816 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 51169816 51169816 G A SNP SHANK1 ENST00000391814 human ensembl 74_37 -1 known missense c.5425 p.R1809C 0.704 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK1 HGNC ENSG00000161681 13 0 0 10 4 28.5714 GPR32 0 genome.wustl.edu 37 19 51274069 51274069 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 51274069 51274069 G A SNP GPR32 ENST00000270590 human ensembl 74_37 +1 known missense c.212 p.R71H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors GPR32 HGNC ENSG00000142511 84 0 0 58 13 18.3099 KDM4B 0 genome.wustl.edu 37 19 5144079 5144079 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 5144079 5144079 C T SNP KDM4B ENST00000159111 human ensembl 74_37 +1 known silent c.2652 p.H884 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC ENSG00000127663 124 0 0 98 9 8.41121 SIGLEC8 0 genome.wustl.edu 37 19 51961534 51961534 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 51961534 51961534 C T SNP SIGLEC8 ENST00000321424 human ensembl 74_37 -1 known silent c.108 p.T36 0.022 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC8 HGNC ENSG00000105366 181 0 0 112 26 18.8406 SIGLEC12 0 genome.wustl.edu 37 19 52003521 52003521 + Missense_Mutation SNP T T G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 52003521 52003521 T G SNP SIGLEC12 ENST00000291707 human ensembl 74_37 -1 known missense c.461 p.E154A 0.003 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC12 HGNC ENSG00000254521 117 0 0 102 19 15.7025 ZNF525 0 genome.wustl.edu 37 19 53884897 53884897 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 53884897 53884897 C T SNP ZNF525 ENST00000355326 human ensembl 74_37 +1 known silent c.219 p.Y73 0.027 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF525 HGNC ENSG00000203326 49 0 0 42 9 17.6471 ZNF761 0 genome.wustl.edu 37 19 53957990 53957990 + RNA SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 53957990 53957990 C T SNP ZNF761 ENST00000334095 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors ZNF761 HGNC ENSG00000160336 124 0 0 63 16 20.2532 CACNG8 0 genome.wustl.edu 37 19 54481413 54481413 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 54481413 54481413 C T SNP CACNG8 ENST00000270458 human ensembl 74_37 +1 known silent c.297 p.G99 0.998 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g8su,prints_Claudin - no_errors CACNG8 HGNC ENSG00000142408 41 0 0 32 4 11.1111 ZNRF4 0 genome.wustl.edu 37 19 5456241 5456241 + Missense_Mutation SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 5456241 5456241 G T SNP ZNRF4 ENST00000222033 human ensembl 74_37 +1 known missense c.739 p.G247C 0.022 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF4 HGNC ENSG00000105428 123 0 0 89 9 9.18367 CNOT3 0 genome.wustl.edu 37 19 54653309 54653309 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 54653309 54653309 C T SNP CNOT3 ENST00000221232 human ensembl 74_37 +1 known missense c.1421 p.A474V 0.112 pirsf_CCR4-NOT_su3/5 pfam_Not_N,pfam_NOT,pirsf_CCR4-NOT_su3/5 - no_errors CNOT3 HGNC ENSG00000088038 30 0 0 16 10 38.4615 ZNF628 0 genome.wustl.edu 37 19 55995311 55995311 + Silent SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 55995311 55995311 T C SNP ZNF628 ENST00000598519 human ensembl 74_37 +1 known silent c.2751 p.G917 0.018 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF628 HGNC ENSG00000197483 15 0 0 10 5 33.3333 NLRP4 0 genome.wustl.edu 37 19 56370010 56370010 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 56370010 56370010 C T SNP NLRP4 ENST00000301295 human ensembl 74_37 +1 known silent c.1251 p.D417 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP4 HGNC ENSG00000160505 150 1 0.662252 113 21 15.6716 ZNF787 0 genome.wustl.edu 37 19 56614500 56614500 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 56614500 56614500 C T SNP ZNF787 ENST00000587279 human ensembl 74_37 -1 putative silent c.87 p.Q29 0.004 NULL NULL - no_errors ZNF787 HGNC ENSG00000142409 71 0 0 37 11 22.9167 LONP1 0 genome.wustl.edu 37 19 5694524 5694524 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 5694524 5694524 C A SNP LONP1 ENST00000360614 human ensembl 74_37 -1 known missense c.2194 p.A732S 0.105 superfamily_P-loop_NTPase,tigrfam_Lon_bac/euk-typ pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Prk_AAA_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ - no_errors LONP1 HGNC ENSG00000196365 79 0 0 67 4 5.6338 LONP1 0 genome.wustl.edu 37 19 5694903 5694903 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 5694903 5694903 C A SNP LONP1 ENST00000360614 human ensembl 74_37 -1 known missense c.2023 p.V675L 1.000 superfamily_P-loop_NTPase,tigrfam_Lon_bac/euk-typ pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Prk_AAA_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ - no_errors LONP1 HGNC ENSG00000196365 54 0 0 41 14 25.4545 ZNF71 0 genome.wustl.edu 37 19 57133306 57133306 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 57133306 57133306 C T SNP ZNF71 ENST00000328070 human ensembl 74_37 +1 known silent c.651 p.D217 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF71 HGNC ENSG00000197951 83 0 0 49 11 18.3333 ZNF324B 0 genome.wustl.edu 37 19 58967762 58967762 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 58967762 58967762 C T SNP ZNF324B ENST00000336614 human ensembl 74_37 +1 known missense c.1451 p.T484M 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 ZNF324B HGNC ENSG00000249471 136 0 0 85 26 23.4234 ZNF324 0 genome.wustl.edu 37 19 58982803 58982803 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 58982803 58982803 G A SNP ZNF324 ENST00000196482 human ensembl 74_37 +1 known missense c.944 p.C315Y 0.997 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 ZNF324 HGNC ENSG00000083812 29 0 0 20 5 20 ZNF324 0 genome.wustl.edu 37 19 58983109 58983109 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 58983109 58983109 G A SNP ZNF324 ENST00000196482 human ensembl 74_37 +1 known missense c.1250 p.R417H 0.993 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF324 HGNC ENSG00000083812 88 0 0 60 19 24.0506 MZF1 0 genome.wustl.edu 37 19 59073711 59073711 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 59073711 59073711 G A SNP MZF1 ENST00000215057 human ensembl 74_37 -1 known missense c.1933 p.R645C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 21 0 0 14 2 12.5 POLRMT 0 genome.wustl.edu 37 19 629547 629547 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 629547 629547 G A SNP POLRMT ENST00000588649 human ensembl 74_37 -1 known missense c.815 p.A272V 0.994 NULL pfam_DNA-dir_Rpol_phage-type - no_errors POLRMT HGNC ENSG00000099821 247 1 0.403226 187 34 15.3846 GTF2F1 0 genome.wustl.edu 37 19 6380339 6380339 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 6380339 6380339 C T SNP GTF2F1 ENST00000394456 human ensembl 74_37 -1 known missense c.1507 p.E503K 0.998 pfam_TFIIF-alpha pfam_TFIIF-alpha,superfamily_TFIIF_interaction - no_errors GTF2F1 HGNC ENSG00000125651 284 1 0.350877 214 12 5.30973 FGF22 0 genome.wustl.edu 37 19 643437 643437 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 643437 643437 C T SNP FGF22 ENST00000215530 human ensembl 74_37 +1 known missense c.346 p.R116W 0.985 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF22 HGNC ENSG00000070388 68 0 0 42 3 6.66667 CD320 0 genome.wustl.edu 37 19 8367418 8367418 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 8367418 8367418 G A SNP CD320 ENST00000301458 human ensembl 74_37 -1 known missense c.778 p.R260C 0.000 NULL pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors CD320 HGNC ENSG00000167775 148 0 0 76 25 24.7525 ACTL9 0 genome.wustl.edu 37 19 8808575 8808575 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 8808575 8808575 G A SNP ACTL9 ENST00000324436 human ensembl 74_37 -1 known silent c.477 p.R159 0.963 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL9 HGNC ENSG00000181786 124 0 0 75 20 21.0526 MUC16 0 genome.wustl.edu 37 19 8999422 8999422 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 8999422 8999422 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.40753 p.T13585A 0.997 smart_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 528 2 0.377358 355 44 11.0276 MUC16 0 genome.wustl.edu 37 19 9062137 9062137 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 9062137 9062137 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.25309 p.L8437F 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 117 0 0 97 6 5.82524 ARID3A 0 genome.wustl.edu 37 19 966745 966745 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 966745 966745 C A SNP ARID3A ENST00000263620 human ensembl 74_37 +1 known missense c.1372 p.P458T 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID3A HGNC ENSG00000116017 36 0 0 24 4 14.2857 ZNF562 0 genome.wustl.edu 37 19 9763880 9763880 + Silent SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 9763880 9763880 T C SNP ZNF562 ENST00000448622 human ensembl 74_37 -1 known silent c.1026 p.K342 0.980 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 ZNF562 HGNC ENSG00000171466 181 0 0 102 35 25.5474 POU3F3 0 genome.wustl.edu 37 2 105473365 105473365 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 105473365 105473365 C T SNP POU3F3 ENST00000361360 human ensembl 74_37 +1 known missense c.1397 p.P466L 1.000 superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Transcription_factor_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F3 HGNC ENSG00000198914 69 0 0 46 9 16.3636 ST6GAL2 0 genome.wustl.edu 37 2 107459638 107459638 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 107459638 107459638 C T SNP ST6GAL2 ENST00000361686 human ensembl 74_37 -1 known missense c.796 p.G266S 1.000 pfam_Glyco_trans_29 pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl - no_errors ST6GAL2 HGNC ENSG00000144057 15 0 0 5 3 37.5 ATP6V1C2 0 genome.wustl.edu 37 2 10912017 10912017 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 10912017 10912017 G A SNP ATP6V1C2 ENST00000272238 human ensembl 74_37 +1 known missense c.523 p.V175M 1.000 pfam_ATPase_V1-cplx_csu pfam_ATPase_V1-cplx_csu - no_errors ATP6V1C2 HGNC ENSG00000143882 204 0 0 129 37 22.2892 RANBP2 0 genome.wustl.edu 37 2 109352109 109352109 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 109352109 109352109 G A SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known missense c.527 p.R176H 0.414 NULL pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 522 2 0.381679 344 99 22.3476 RANBP2 0 genome.wustl.edu 37 2 109371681 109371681 + Missense_Mutation SNP T T G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 109371681 109371681 T G SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known missense c.2432 p.L811R 1.000 NULL pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 232 2 0.854701 185 13 6.56566 E2F6 0 genome.wustl.edu 37 2 11590210 11590210 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 11590210 11590210 G A SNP E2F6 ENST00000381525 human ensembl 74_37 -1 known silent c.579 p.A193 0.572 NULL pfam_E2F_TDP - no_errors E2F6 HGNC ENSG00000169016 161 0 0 115 25 17.8571 NTSR2 0 genome.wustl.edu 37 2 11798844 11798844 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 11798844 11798844 G A SNP NTSR2 ENST00000306928 human ensembl 74_37 -1 known silent c.994 p.L332 0.869 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NT_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NT2_rcpt,prints_NT_rcpt,prints_GPCR_Rhodpsn - no_errors NTSR2 HGNC ENSG00000169006 126 0 0 70 15 17.6471 GLI2 0 genome.wustl.edu 37 2 121728104 121728104 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 121728104 121728104 G A SNP GLI2 ENST00000361492 human ensembl 74_37 +1 known silent c.981 p.Q327 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 126 0 0 59 20 25.3165 CNTNAP5 0 genome.wustl.edu 37 2 125261894 125261894 + Missense_Mutation SNP A A T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 125261894 125261894 A T SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.1085 p.E362V 1.000 superfamily_ConA-like_lec_gl_sf pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 97 0 0 67 10 12.987 CNTNAP5 0 genome.wustl.edu 37 2 125504945 125504945 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 125504945 125504945 C T SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known silent c.2214 p.D738 0.937 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 176 0 0 99 13 11.6071 ERCC3 0 genome.wustl.edu 37 2 128030517 128030517 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 128030517 128030517 G A SNP ERCC3 ENST00000285398 human ensembl 74_37 -1 known missense c.1751 p.T584M 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C,tigrfam_Helicase_Ercc3 pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_Helicase_Ercc3,tigrfam_Helicase_Ercc3 - no_errors ERCC3 HGNC ENSG00000163161 93 0 0 63 5 7.35294 PLEKHB2 0 genome.wustl.edu 37 2 131890540 131890540 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 131890540 131890540 G A SNP PLEKHB2 ENST00000303908 human ensembl 74_37 +1 known silent c.399 p.T133 0.972 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHB2 HGNC ENSG00000115762 126 0 0 75 31 29.2453 LOC150776 0 genome.wustl.edu 37 2 132257915 132257915 + RNA SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 132257915 132257915 A G SNP LOC150776 ENST00000438378 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AC093838.4 Clone_based_vega_gene ENSG00000152117 53 0 0 34 8 19.0476 LRP1B 0 genome.wustl.edu 37 2 141143560 141143560 + Missense_Mutation SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 141143560 141143560 G T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.10433 p.P3478H 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 138 0 0 114 29 20.2797 LRP1B 0 genome.wustl.edu 37 2 141598627 141598627 + Nonsense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 141598627 141598627 C T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known nonsense c.4974 p.W1658* 1.000 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 93 0 0 67 7 9.45946 TNFAIP6 0 genome.wustl.edu 37 2 152220529 152220529 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 152220529 152220529 C T SNP TNFAIP6 ENST00000243347 human ensembl 74_37 +1 known missense c.167 p.A56V 0.999 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_Link pfam_CUB_dom,pfam_Link,superfamily_CUB_dom,superfamily_C-type_lectin_fold,smart_Link,smart_CUB_dom,pfscan_CUB_dom,pfscan_Link,prints_Link - no_errors TNFAIP6 HGNC ENSG00000123610 81 0 0 63 7 10 NEB 0 genome.wustl.edu 37 2 152342437 152342437 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 152342437 152342437 C T SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.25415 p.R8472H 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 101 0 0 41 14 25.4545 KCNJ3 0 genome.wustl.edu 37 2 155566239 155566239 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 155566239 155566239 C T SNP KCNJ3 ENST00000295101 human ensembl 74_37 +1 known missense c.827 p.A276V 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.1,prints_K_chnl_inward-rec_Kir - no_errors KCNJ3 HGNC ENSG00000162989 113 0 0 75 17 18.4783 GPD2 0 genome.wustl.edu 37 2 157407179 157407179 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 157407179 157407179 C T SNP GPD2 ENST00000310454 human ensembl 74_37 +1 known missense c.892 p.R298C 1.000 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_G3P_DH_FAD-dep - no_errors GPD2 HGNC ENSG00000115159 85 0 0 54 19 26.0274 CYTIP 0 genome.wustl.edu 37 2 158272437 158272437 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 158272437 158272437 T C SNP CYTIP ENST00000264192 human ensembl 74_37 -1 known missense c.832 p.T278A 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors CYTIP HGNC ENSG00000115165 98 0 0 67 19 22.093 PKP4 0 genome.wustl.edu 37 2 159523059 159523059 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 159523059 159523059 C T SNP PKP4 ENST00000389759 human ensembl 74_37 +1 known silent c.2712 p.R904 1.000 superfamily_ARM-type_fold,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP4 HGNC ENSG00000144283 142 0 0 104 7 6.30631 PKP4 0 genome.wustl.edu 37 2 159530257 159530257 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 159530257 159530257 G A SNP PKP4 ENST00000389759 human ensembl 74_37 +1 known missense c.2993 p.R998Q 1.000 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP4 HGNC ENSG00000144283 72 0 0 41 9 18 SCN1A 0 genome.wustl.edu 37 2 166894493 166894493 + Silent SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 166894493 166894493 A G SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known silent c.2739 p.G913 0.904 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 154 0 0 83 23 21.6981 LRP2 0 genome.wustl.edu 37 2 169989169 169989169 + Missense_Mutation SNP T T A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 169989169 169989169 T A SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.13643 p.D4548V 0.884 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 111 0 0 68 22 24.4444 LRP2 0 genome.wustl.edu 37 2 170101377 170101377 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 170101377 170101377 A G SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.3256 p.C1086R 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 182 0 0 105 37 26.0563 RAPGEF4 0 genome.wustl.edu 37 2 173850209 173850209 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 173850209 173850209 G A SNP RAPGEF4 ENST00000397081 human ensembl 74_37 +1 known missense c.1138 p.G380R 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin - no_errors RAPGEF4 HGNC ENSG00000091428 215 0 0 147 29 16.4773 RAPGEF4 0 genome.wustl.edu 37 2 173885388 173885388 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 173885388 173885388 C T SNP RAPGEF4 ENST00000397081 human ensembl 74_37 +1 known missense c.2198 p.T733M 1.000 pfam_Ras-assoc,superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin - no_errors RAPGEF4 HGNC ENSG00000091428 196 0 0 169 33 16.3366 WIPF1 0 genome.wustl.edu 37 2 175436391 175436391 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 175436391 175436391 C T SNP WIPF1 ENST00000409415 human ensembl 74_37 -1 novel missense c.1142 p.R381H 0.000 NULL smart_WH2_dom,pfscan_WH2_dom - no_errors WIPF1 HGNC ENSG00000115935 184 0 0 127 9 6.61765 TTC30A 0 genome.wustl.edu 37 2 178483202 178483202 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 178483202 178483202 C T SNP TTC30A ENST00000355689 human ensembl 74_37 -1 known silent c.228 p.P76 0.556 smart_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC30A HGNC ENSG00000197557 19 0 0 17 3 15 PRKRA 0 genome.wustl.edu 37 2 179309177 179309177 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 179309177 179309177 T C SNP PRKRA ENST00000325748 human ensembl 74_37 -1 known missense c.368 p.N123S 1.000 NULL pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors PRKRA HGNC ENSG00000180228 102 0 0 95 10 9.52381 TTN 0 genome.wustl.edu 37 2 179395781 179395781 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 179395781 179395781 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.97857 p.E32619D 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 379 1 0.263158 267 78 22.6087 TTN 0 genome.wustl.edu 37 2 179401935 179401935 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 179401935 179401935 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.92197 p.E30733K 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 44 0 0 28 3 9.67742 TTN 0 genome.wustl.edu 37 2 179402474 179402474 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 179402474 179402474 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.91756 p.R30586C 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 65 0 0 32 3 8.57143 TTN 0 genome.wustl.edu 37 2 179424199 179424199 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 179424199 179424199 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.78956 p.A26319V 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 117 0 0 53 18 25.3521 TTN 0 genome.wustl.edu 37 2 179605033 179605033 + Silent SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 179605033 179605033 A G SNP TTN ENST00000342175 human ensembl 74_37 -1 known silent c.12414 p.N4138 0.000 superfamily_RNaseH-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 58 0 0 54 13 19.403 TTN 0 genome.wustl.edu 37 2 179621192 179621192 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 179621192 179621192 C A SNP TTN ENST00000342175 human ensembl 74_37 -1 known missense c.10498 p.V3500L 0.885 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 78 0 0 46 9 16.3636 TTN 0 genome.wustl.edu 37 2 179640696 179640696 + Silent SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 179640696 179640696 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.5895 p.D1965 0.476 superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 240 0 0 176 14 7.36842 FAM171B 0 genome.wustl.edu 37 2 187605100 187605100 + Silent SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 187605100 187605100 C A SNP FAM171B ENST00000304698 human ensembl 74_37 +1 known silent c.384 p.P128 1.000 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171B HGNC ENSG00000144369 76 0 0 56 8 12.5 NAB1 0 genome.wustl.edu 37 2 191524446 191524446 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 191524446 191524446 G A SNP NAB1 ENST00000337386 human ensembl 74_37 +1 known missense c.544 p.A182T 0.975 pfam_NAB_co-repressor_dom pfam_Nab1_C,pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed - no_errors NAB1 HGNC ENSG00000138386 46 0 0 29 8 21.6216 SF3B1 0 genome.wustl.edu 37 2 198265472 198265472 + Silent SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 198265472 198265472 A G SNP SF3B1 ENST00000335508 human ensembl 74_37 -1 known silent c.2685 p.G895 0.989 superfamily_ARM-type_fold pfam_SF3b_su1,superfamily_ARM-type_fold - no_errors SF3B1 HGNC ENSG00000115524 101 0 0 76 4 5 KCTD18 0 genome.wustl.edu 37 2 201354988 201354988 + Silent SNP T T A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 201354988 201354988 T A SNP KCTD18 ENST00000359878 human ensembl 74_37 -1 known silent c.1116 p.T372 0.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold - no_errors KCTD18 HGNC ENSG00000155729 127 0 0 79 15 15.9574 STRADB 0 genome.wustl.edu 37 2 202323572 202323572 + Silent SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 202323572 202323572 T C SNP STRADB ENST00000194530 human ensembl 74_37 +1 known silent c.78 p.S26 0.973 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STRADB HGNC ENSG00000082146 80 0 0 58 14 19.4444 CARF 0 genome.wustl.edu 37 2 203807539 203807539 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 203807539 203807539 G A SNP CARF ENST00000320443 human ensembl 74_37 +1 known missense c.155 p.R52H 0.016 NULL NULL - no_errors CARF HGNC ENSG00000138380 84 0 0 66 7 9.58904 NDUFS1 0 genome.wustl.edu 37 2 207009720 207009720 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 207009720 207009720 C T SNP NDUFS1 ENST00000455934 human ensembl 74_37 -1 known silent c.810 p.A270 0.974 tigrfam_NADH_UbQ_OxRdtase_Gsu pfam_Mopterin_OxRdtase,pfam_NADH_UbQ_OxRdtase_Gsu_4Fe4S-bd,pfam_NuoG_C,pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,smart_NADH_UbQ_OxRdtase_Gsu_4Fe4S-bd,pfscan_2Fe-2S_ferredoxin-type,tigrfam_NADH_UbQ_OxRdtase_Gsu - no_errors NDUFS1 HGNC ENSG00000023228 78 0 0 53 12 18.4615 APOB 0 genome.wustl.edu 37 2 21232913 21232913 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 21232913 21232913 A G SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.6827 p.I2276T 0.496 superfamily_ARM-type_fold pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 135 1 0.735294 99 26 20.8 SPAG16 0 genome.wustl.edu 37 2 214160816 214160816 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 214160816 214160816 T C SNP SPAG16 ENST00000374309 human ensembl 74_37 +1 known missense c.2 p.M1T 1.000 NULL 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 SPAG16 HGNC ENSG00000144451 117 0 0 68 23 25.2747 ABCA12 0 genome.wustl.edu 37 2 215876269 215876269 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 215876269 215876269 C T SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known missense c.2226 p.M742I 0.999 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 168 0 0 98 23 19.0083 ATIC 0 genome.wustl.edu 37 2 216191614 216191614 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 216191614 216191614 G A SNP ATIC ENST00000236959 human ensembl 74_37 +1 known missense c.601 p.V201I 0.011 pfam_AICARFT_IMPCHas,superfamily_Cytidine_deaminase-like,smart_AICARFT_IMPCHas,pirsf_AICARFT_IMPCHas,tigrfam_AICARFT_IMPCHas pfam_AICARFT_IMPCHas,pfam_MGS-like_dom,superfamily_Cytidine_deaminase-like,superfamily_MGS-like_dom,smart_MGS-like_dom,smart_AICARFT_IMPCHas,pirsf_AICARFT_IMPCHas,tigrfam_AICARFT_IMPCHas - no_errors ATIC HGNC ENSG00000138363 203 0 0 128 44 25.5814 TNS1 0 genome.wustl.edu 37 2 218700748 218700748 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 218700748 218700748 C T SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known missense c.2819 p.R940Q 1.000 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 119 0 0 64 13 16.8831 USP37 0 genome.wustl.edu 37 2 219410943 219410943 + Splice_Site SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 219410943 219410943 C T SNP USP37 ENST00000258399 human ensembl 74_37 -1 known splice_site c.680+1 e5+1 1.000 - - - no_errors USP37 HGNC ENSG00000135913 53 0 0 31 4 11.4286 TUBA4A 0 genome.wustl.edu 37 2 220115630 220115630 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 220115630 220115630 C T SNP TUBA4A ENST00000248437 human ensembl 74_37 -1 known missense c.791 p.R264H 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin - no_errors TUBA4A HGNC ENSG00000127824 132 1 0.75188 99 15 13.1579 SPEG 0 genome.wustl.edu 37 2 220354421 220354421 + Missense_Mutation SNP T T G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 220354421 220354421 T G SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel missense c.8681 p.V2894G 0.000 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors SPEG HGNC ENSG00000072195 294 0 0 196 39 16.5957 TMEM198 0 genome.wustl.edu 37 2 220413898 220413898 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 220413898 220413898 G A SNP TMEM198 ENST00000344458 human ensembl 74_37 +1 known missense c.767 p.R256H 0.976 NULL NULL - no_errors TMEM198 HGNC ENSG00000188760 199 0 0 128 44 25.5814 OBSL1 0 genome.wustl.edu 37 2 220421178 220421178 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 220421178 220421178 C T SNP OBSL1 ENST00000404537 human ensembl 74_37 -1 known missense c.4334 p.R1445Q 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors OBSL1 HGNC ENSG00000124006 250 0 0 155 32 17.1123 EPHA4 0 genome.wustl.edu 37 2 222433479 222433479 + Nonsense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 222433479 222433479 G A SNP EPHA4 ENST00000281821 human ensembl 74_37 -1 known nonsense c.118 p.Q40* 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA4 HGNC ENSG00000116106 35 0 0 30 7 18.9189 IRS1 0 genome.wustl.edu 37 2 227660213 227660213 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 227660213 227660213 C T SNP IRS1 ENST00000305123 human ensembl 74_37 -1 known missense c.3242 p.R1081H 0.813 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors IRS1 HGNC ENSG00000169047 184 0 0 129 14 9.79021 IRS1 0 genome.wustl.edu 37 2 227662740 227662740 + Nonsense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 227662740 227662740 G A SNP IRS1 ENST00000305123 human ensembl 74_37 -1 known nonsense c.715 p.Q239* 1.000 pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors IRS1 HGNC ENSG00000169047 158 1 0.628931 89 23 20.5357 IRS1 0 genome.wustl.edu 37 2 227663331 227663331 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 227663331 227663331 C T SNP IRS1 ENST00000305123 human ensembl 74_37 -1 known missense c.124 p.A42T 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors IRS1 HGNC ENSG00000169047 207 0 0 133 29 17.9012 SPHKAP 0 genome.wustl.edu 37 2 228883949 228883949 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 228883949 228883949 G A SNP SPHKAP ENST00000392056 human ensembl 74_37 -1 known missense c.1621 p.P541S 0.000 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 170 0 0 102 30 22.7273 SLC16A14 0 genome.wustl.edu 37 2 230911163 230911163 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 230911163 230911163 G A SNP SLC16A14 ENST00000295190 human ensembl 74_37 -1 known missense c.679 p.R227C 0.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A14 HGNC ENSG00000163053 154 0 0 118 9 7.08661 ARMC9 0 genome.wustl.edu 37 2 232079591 232079591 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 232079591 232079591 C T SNP ARMC9 ENST00000349938 human ensembl 74_37 +1 known silent c.225 p.F75 0.359 NULL superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors ARMC9 HGNC ENSG00000135931 93 0 0 61 9 12.8571 CHRNG 0 genome.wustl.edu 37 2 233410403 233410403 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 233410403 233410403 C A SNP CHRNG ENST00000389494 human ensembl 74_37 +1 known missense c.1531 p.P511T 0.765 NULL pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNG HGNC ENSG00000196811 121 1 0.819672 96 14 12.7273 HJURP 0 genome.wustl.edu 37 2 234750011 234750011 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 234750011 234750011 G A SNP HJURP ENST00000411486 human ensembl 74_37 -1 known missense c.1415 p.A472V 0.000 NULL pfam_HJURP,pfam_HJURP_C,pfam_Centromere_Scm3_N - no_errors HJURP HGNC ENSG00000123485 153 0 0 89 5 5.31915 AGAP1 0 genome.wustl.edu 37 2 236708038 236708038 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 236708038 236708038 G A SNP AGAP1 ENST00000304032 human ensembl 74_37 +1 known missense c.829 p.D277N 1.000 NULL pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP1 HGNC ENSG00000157985 99 0 0 67 4 5.6338 COL6A3 0 genome.wustl.edu 37 2 238280583 238280583 + Silent SNP G G C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 238280583 238280583 G C SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known silent c.4077 p.L1359 0.991 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 75 0 0 47 14 22.9508 ASB1 0 genome.wustl.edu 37 2 239342241 239342241 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 239342241 239342241 G A SNP ASB1 ENST00000264607 human ensembl 74_37 +1 known silent c.96 p.P32 0.508 NULL 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,prints_Ankyrin_rpt - no_errors ASB1 HGNC ENSG00000065802 59 0 0 39 7 15.2174 OR6B2 0 genome.wustl.edu 37 2 240969565 240969565 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 240969565 240969565 G A SNP OR6B2 ENST00000402971 human ensembl 74_37 -1 known silent c.282 p.F94 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6B2 HGNC ENSG00000182083 124 0 0 91 9 9 OR6B2 0 genome.wustl.edu 37 2 240969841 240969841 + Silent SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 240969841 240969841 A G SNP OR6B2 ENST00000402971 human ensembl 74_37 -1 known silent c.6 p.S2 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6B2 HGNC ENSG00000182083 53 0 0 30 10 25 KIF1A 0 genome.wustl.edu 37 2 241706349 241706349 + Missense_Mutation SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 241706349 241706349 G T SNP KIF1A ENST00000498729 human ensembl 74_37 -1 known missense c.1667 p.S556Y 0.295 pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 29 0 0 16 3 15.7895 C2orf54 0 genome.wustl.edu 37 2 241835121 241835121 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 241835121 241835121 C A SNP C2orf54 ENST00000388934 human ensembl 74_37 -1 known missense c.294 p.E98D 0.000 NULL NULL - no_errors C2orf54 HGNC ENSG00000172478 93 0 0 75 5 6.25 ANO7 0 genome.wustl.edu 37 2 242154253 242154253 + Nonsense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 242154253 242154253 C T SNP ANO7 ENST00000274979 human ensembl 74_37 +1 known nonsense c.1924 p.Q642* 0.998 pfam_Anoctamin pfam_Anoctamin - no_errors ANO7 HGNC ENSG00000146205 86 0 0 67 5 6.94444 HDLBP 0 genome.wustl.edu 37 2 242176046 242176046 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 242176046 242176046 G A SNP HDLBP ENST00000310931 human ensembl 74_37 -1 known missense c.2888 p.A963V 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC ENSG00000115677 144 0 0 75 24 24.2424 HDLBP 0 genome.wustl.edu 37 2 242179429 242179429 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 242179429 242179429 G A SNP HDLBP ENST00000310931 human ensembl 74_37 -1 known missense c.2278 p.R760C 0.207 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC ENSG00000115677 141 0 0 103 11 9.64912 ASXL2 0 genome.wustl.edu 37 2 25966041 25966041 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 25966041 25966041 G A SNP ASXL2 ENST00000435504 human ensembl 74_37 -1 known silent c.3165 p.H1055 0.993 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ENSG00000143970 52 0 0 32 3 8.57143 PREB 0 genome.wustl.edu 37 2 27357254 27357254 + Silent SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 27357254 27357254 A G SNP PREB ENST00000260643 human ensembl 74_37 -1 known silent c.36 p.A12 1.000 NULL pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PREB HGNC ENSG00000138073 27 0 0 22 4 15.3846 SLC5A6 0 genome.wustl.edu 37 2 27430357 27430357 + Silent SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 27430357 27430357 A G SNP SLC5A6 ENST00000310574 human ensembl 74_37 -1 known silent c.162 p.H54 0.998 pfscan_Na/solute_symporter pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A6 HGNC ENSG00000138074 85 0 0 51 9 15 PLB1 0 genome.wustl.edu 37 2 28841220 28841220 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 28841220 28841220 G A SNP PLB1 ENST00000422425 human ensembl 74_37 +1 known missense c.3236 p.R1079Q 0.702 NULL pfam_Lipase_GDSL - no_errors PLB1 HGNC ENSG00000163803 138 0 0 80 38 32.2034 ALK 0 genome.wustl.edu 37 2 29917828 29917828 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 29917828 29917828 C T SNP ALK ENST00000389048 human ensembl 74_37 -1 known silent c.840 p.L280 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_MAM_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ALK HGNC ENSG00000171094 167 0 0 106 20 15.873 SRD5A2 0 genome.wustl.edu 37 2 31805915 31805915 + RNA SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 31805915 31805915 C T SNP SRD5A2 ENST00000233139 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SRD5A2 HGNC ENSG00000049319 45 0 0 33 11 25 BIRC6 0 genome.wustl.edu 37 2 32693612 32693612 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 32693612 32693612 C T SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known missense c.5888 p.A1963V 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 112 0 0 66 17 20.4819 RMDN2 0 genome.wustl.edu 37 2 38178539 38178539 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 38178539 38178539 A G SNP RMDN2 ENST00000234195 human ensembl 74_37 +1 known missense c.181 p.S61G 0.001 NULL NULL - no_errors RMDN2 HGNC ENSG00000115841 152 0 0 87 25 22.3214 SLC3A1 0 genome.wustl.edu 37 2 44531467 44531467 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 44531467 44531467 C A SNP SLC3A1 ENST00000260649 human ensembl 74_37 +1 known missense c.1322 p.P441H 1.000 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom - no_errors SLC3A1 HGNC ENSG00000138079 68 0 0 53 6 10.1695 PIGF 0 genome.wustl.edu 37 2 46808671 46808671 + Silent SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 46808671 46808671 A G SNP PIGF ENST00000281382 human ensembl 74_37 -1 known silent c.606 p.I202 0.077 pfam_GPI_biosynthesis_protein_Pig-F pfam_GPI_biosynthesis_protein_Pig-F - no_errors PIGF HGNC ENSG00000151665 56 0 0 26 3 10.3448 TTC7A 0 genome.wustl.edu 37 2 47177502 47177502 + Missense_Mutation SNP A A T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 47177502 47177502 A T SNP TTC7A ENST00000319190 human ensembl 74_37 +1 known missense c.185 p.D62V 1.000 NULL pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC7A HGNC ENSG00000068724 291 0 0 235 22 8.56031 PPP1R21 0 genome.wustl.edu 37 2 48725735 48725735 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 48725735 48725735 G A SNP PPP1R21 ENST00000294952 human ensembl 74_37 +1 known missense c.1796 p.R599Q 0.983 pfam_KLRAQ/TTKRSYEDQ_C,superfamily_Ferritin-like_SF pfam_KLRAQ/TTKRSYEDQ_C,pfam_Unchr_KLRAQ/TTKRSYEDQ_N,superfamily_Ferritin-like_SF - no_errors PPP1R21 HGNC ENSG00000162869 61 0 0 52 4 7.14286 LHCGR 0 genome.wustl.edu 37 2 48915561 48915561 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 48915561 48915561 C T SNP LHCGR ENST00000294954 human ensembl 74_37 -1 known missense c.1375 p.V459I 0.991 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_LSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors LHCGR HGNC ENSG00000138039 81 0 0 54 5 8.47458 NRXN1 0 genome.wustl.edu 37 2 50573840 50573840 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 50573840 50573840 C T SNP NRXN1 ENST00000342183 human ensembl 74_37 -1 known missense c.248 p.R83Q 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Neurexin-like,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 73 0 0 48 13 21.3115 USP34 0 genome.wustl.edu 37 2 61439037 61439037 + Nonsense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 61439037 61439037 G A SNP USP34 ENST00000398571 human ensembl 74_37 -1 known nonsense c.8710 p.Q2904* 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 51 0 0 46 4 8 CEP68 0 genome.wustl.edu 37 2 65298937 65298937 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 65298937 65298937 C A SNP CEP68 ENST00000377990 human ensembl 74_37 +1 known missense c.707 p.P236H 0.000 NULL NULL - no_errors CEP68 HGNC ENSG00000011523 168 0 0 105 27 20.4545 ANTXR1 0 genome.wustl.edu 37 2 69420482 69420482 + Silent SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 69420482 69420482 T C SNP ANTXR1 ENST00000303714 human ensembl 74_37 +1 known silent c.1369 p.L457 1.000 pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_C pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_extracel,pfam_Anthrax_toxin_rcpt_C,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors ANTXR1 HGNC ENSG00000169604 163 0 0 145 8 5.22876 TEX261 0 genome.wustl.edu 37 2 71218969 71218969 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 71218969 71218969 G A SNP TEX261 ENST00000272438 human ensembl 74_37 -1 known silent c.295 p.L99 1.000 pfam_Transmembrane_adaptor_Erv26 pfam_Transmembrane_adaptor_Erv26 - no_errors TEX261 HGNC ENSG00000144043 39 0 0 20 9 31.0345 SLC4A5 0 genome.wustl.edu 37 2 74474271 74474271 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 74474271 74474271 C T SNP SLC4A5 ENST00000357822 human ensembl 74_37 -1 known missense c.1951 p.D651N 1.000 pfam_HCO3_transpt_C,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A5 HGNC ENSG00000188687 298 0 0 202 38 15.8333 M1AP 0 genome.wustl.edu 37 2 74867329 74867329 + Missense_Mutation SNP A A T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 74867329 74867329 A T SNP M1AP ENST00000290536 human ensembl 74_37 -1 known missense c.74 p.L25H 1.000 NULL NULL - no_errors M1AP HGNC ENSG00000159374 91 0 0 53 8 13.1148 POLR1A 0 genome.wustl.edu 37 2 86267634 86267634 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 86267634 86267634 C T SNP POLR1A ENST00000263857 human ensembl 74_37 -1 known silent c.3621 p.P1207 0.002 pfam_RNA_pol_Rpb1_5 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC ENSG00000068654 66 0 0 39 15 27.7778 THNSL2 0 genome.wustl.edu 37 2 88485550 88485550 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 88485550 88485550 C T SNP THNSL2 ENST00000324166 human ensembl 74_37 +1 known missense c.1363 p.R455W 0.984 superfamily_Trp_syn_b_sub_like_PLP_eny_SF pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like - no_errors THNSL2 HGNC ENSG00000144115 13 0 0 9 3 25 TEKT4 0 genome.wustl.edu 37 2 95540642 95540642 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 95540642 95540642 G A SNP TEKT4 ENST00000295201 human ensembl 74_37 +1 known missense c.835 p.E279K 0.912 pfam_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT4 HGNC ENSG00000163060 34 0 0 19 3 13.6364 PROM2 0 genome.wustl.edu 37 2 95944487 95944487 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 95944487 95944487 G A SNP PROM2 ENST00000317620 human ensembl 74_37 +1 known missense c.1069 p.A357T 0.004 pfam_Prominin pfam_Prominin - no_errors PROM2 HGNC ENSG00000155066 117 0 0 83 7 7.77778 SNRNP200 0 genome.wustl.edu 37 2 96948969 96948969 + Nonsense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 96948969 96948969 G A SNP SNRNP200 ENST00000323853 human ensembl 74_37 -1 known nonsense c.4885 p.R1629* 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC ENSG00000144028 156 0 0 107 16 13.0081 KANSL3 0 genome.wustl.edu 37 2 97274280 97274280 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 97274280 97274280 C T SNP KANSL3 ENST00000431828 human ensembl 74_37 -1 known missense c.1706 p.R569Q 1.000 NULL NULL - no_errors KANSL3 HGNC ENSG00000114982 99 0 0 88 8 8.33333 TAF1B 0 genome.wustl.edu 37 2 9985364 9985364 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 9985364 9985364 C T SNP TAF1B ENST00000263663 human ensembl 74_37 +1 known missense c.34 p.R12C 0.560 pfam_TF_Rrn7 pfam_TF_Rrn7 - no_errors TAF1B HGNC ENSG00000115750 102 0 0 67 20 22.9885 FLRT3 0 genome.wustl.edu 37 20 14307986 14307986 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 20 14307986 14307986 A G SNP FLRT3 ENST00000341420 human ensembl 74_37 -1 known missense c.167 p.I56T 1.000 smart_LRR-contain_N pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT3 HGNC ENSG00000125848 162 0 0 102 24 19.0476 RRBP1 0 genome.wustl.edu 37 20 17602500 17602500 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 20 17602500 17602500 C A SNP RRBP1 ENST00000246043 human ensembl 74_37 -1 known missense c.3240 p.Q1080H 1.000 NULL pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC ENSG00000125844 170 0 0 130 7 5.10949 OVOL2 0 genome.wustl.edu 37 20 18005430 18005430 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 20 18005430 18005430 C A SNP OVOL2 ENST00000278780 human ensembl 74_37 -1 known missense c.678 p.Q226H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors OVOL2 HGNC ENSG00000125850 62 0 0 60 8 11.7647 RALGAPA2 0 genome.wustl.edu 37 20 20453516 20453516 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 20 20453516 20453516 C T SNP RALGAPA2 ENST00000202677 human ensembl 74_37 -1 known missense c.5452 p.A1818T 1.000 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA2 HGNC ENSG00000188559 68 0 0 46 5 9.80392 SSTR4 0 genome.wustl.edu 37 20 23016874 23016874 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 20 23016874 23016874 C T SNP SSTR4 ENST00000255008 human ensembl 74_37 +1 known missense c.754 p.R252C 0.708 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_4,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt,prints_Somatstn_rcpt_1 - no_errors SSTR4 HGNC ENSG00000132671 112 0 0 66 13 16.4557 TGM3 0 genome.wustl.edu 37 20 2315907 2315907 + Silent SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 20 2315907 2315907 C A SNP TGM3 ENST00000381458 human ensembl 74_37 +1 known silent c.1788 p.T596 0.936 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM3 HGNC ENSG00000125780 107 1 0.925926 79 10 11.236 TGM6 0 genome.wustl.edu 37 20 2384451 2384451 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 20 2384451 2384451 C A SNP TGM6 ENST00000202625 human ensembl 74_37 +1 known missense c.1318 p.L440I 0.916 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM6 HGNC ENSG00000166948 148 0 0 99 7 6.60377 PYGB 0 genome.wustl.edu 37 20 25261746 25261746 + Silent SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 20 25261746 25261746 G T SNP PYGB ENST00000216962 human ensembl 74_37 +1 known silent c.1401 p.S467 0.007 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGB HGNC ENSG00000100994 166 0 0 88 23 20.7207 PYGB 0 genome.wustl.edu 37 20 25277133 25277133 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 20 25277133 25277133 C T SNP PYGB ENST00000216962 human ensembl 74_37 +1 known missense c.2507 p.P836L 1.000 pirsf_Glyco_trans_35 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGB HGNC ENSG00000100994 99 0 0 62 37 37.3737 NINL 0 genome.wustl.edu 37 20 25434182 25434182 + Nonsense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 20 25434182 25434182 G A SNP NINL ENST00000278886 human ensembl 74_37 -1 known nonsense c.4054 p.R1352* 0.568 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NINL HGNC ENSG00000101004 119 1 0.833333 87 8 8.42105 TMC2 0 genome.wustl.edu 37 20 2577930 2577930 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 20 2577930 2577930 A G SNP TMC2 ENST00000358864 human ensembl 74_37 +1 known missense c.1210 p.T404A 1.000 NULL pfam_TMC - no_errors TMC2 HGNC ENSG00000149488 49 0 0 41 12 22.6415 C20orf112 0 genome.wustl.edu 37 20 31040126 31040126 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 20 31040126 31040126 C T SNP C20orf112 ENST00000359676 human ensembl 74_37 -1 known missense c.1003 p.G335S 0.999 NULL NULL - no_errors C20orf112 HGNC ENSG00000197183 162 0 0 113 18 13.7405 AHCY 0 genome.wustl.edu 37 20 32883312 32883312 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 20 32883312 32883312 C T SNP AHCY ENST00000217426 human ensembl 74_37 -1 known silent c.108 p.R36 1.000 pfam_Adenosylhomocysteinase,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_IlvN,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase - no_errors AHCY HGNC ENSG00000101444 55 0 0 30 4 11.7647 DYNLRB1 0 genome.wustl.edu 37 20 33122488 33122488 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 20 33122488 33122488 A G SNP DYNLRB1 ENST00000417166 human ensembl 74_37 +1 known missense c.136 p.M46V 1.000 pfam_Dynein_light-rel,smart_Dynein_light-rel pfam_Dynein_light-rel,smart_Dynein_light-rel - no_errors DYNLRB1 HGNC ENSG00000125971 110 0 0 84 17 16.8317 NCOA6 0 genome.wustl.edu 37 20 33364108 33364108 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 20 33364108 33364108 C T SNP NCOA6 ENST00000359003 human ensembl 74_37 -1 known missense c.379 p.V127I 1.000 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 119 1 0.833333 63 18 22.2222 TTI1 0 genome.wustl.edu 37 20 36640099 36640099 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 20 36640099 36640099 C T SNP TTI1 ENST00000373447 human ensembl 74_37 -1 known missense c.2120 p.R707H 0.981 superfamily_ARM-type_fold,pirsf_UCP005250 superfamily_ARM-type_fold,pirsf_UCP005250 - no_errors TTI1 HGNC ENSG00000101407 95 0 0 54 7 11.4754 ZNF335 0 genome.wustl.edu 37 20 44594330 44594330 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 20 44594330 44594330 G A SNP ZNF335 ENST00000322927 human ensembl 74_37 -1 known missense c.1039 p.P347S 0.880 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF335 HGNC ENSG00000198026 93 0 0 66 18 21.4286 MMP9 0 genome.wustl.edu 37 20 44639874 44639874 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 20 44639874 44639874 G A SNP MMP9 ENST00000372330 human ensembl 74_37 +1 known missense c.742 p.G248S 1.000 pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A - no_errors MMP9 HGNC ENSG00000100985 260 0 0 183 33 15.2778 MMP9 0 genome.wustl.edu 37 20 44642136 44642136 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 20 44642136 44642136 G A SNP MMP9 ENST00000372330 human ensembl 74_37 +1 known missense c.1573 p.A525T 0.419 pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A - no_errors MMP9 HGNC ENSG00000100985 34 0 0 27 6 18.1818 EYA2 0 genome.wustl.edu 37 20 45725724 45725724 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 20 45725724 45725724 C T SNP EYA2 ENST00000327619 human ensembl 74_37 +1 known missense c.805 p.R269C 1.000 pfam_HAD-like_dom,tigrfam_EYA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA2 HGNC ENSG00000064655 202 0 0 139 10 6.71141 ZMYND8 0 genome.wustl.edu 37 20 45853116 45853116 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 20 45853116 45853116 T C SNP ZMYND8 ENST00000536340 human ensembl 74_37 -1 known missense c.3131 p.Q1044R 1.000 NULL pfam_DUF3544,pfam_Bromodomain,pfam_PWWP_dom,pfam_Znf_PHD-finger,pfam_Znf_MYND,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND8 HGNC ENSG00000101040 258 0 0 172 36 17.3077 SLC9A8 0 genome.wustl.edu 37 20 48504378 48504378 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 20 48504378 48504378 G A SNP SLC9A8 ENST00000417961 human ensembl 74_37 +1 known missense c.1699 p.G567R 1.000 NULL pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A8 HGNC ENSG00000197818 125 0 0 76 31 28.972 NFATC2 0 genome.wustl.edu 37 20 50051813 50051813 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 20 50051813 50051813 C A SNP NFATC2 ENST00000396009 human ensembl 74_37 -1 known missense c.1944 p.K648N 1.000 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC2 HGNC ENSG00000101096 228 0 0 170 9 5.02793 NFATC2 0 genome.wustl.edu 37 20 50090640 50090640 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 20 50090640 50090640 G A SNP NFATC2 ENST00000396009 human ensembl 74_37 -1 known missense c.1585 p.R529W 1.000 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC2 HGNC ENSG00000101096 110 0 0 89 17 16.0377 ATP9A 0 genome.wustl.edu 37 20 50287727 50287727 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 20 50287727 50287727 G A SNP ATP9A ENST00000338821 human ensembl 74_37 -1 known silent c.1107 p.P369 0.538 tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9A HGNC ENSG00000054793 84 0 0 61 12 16.4384 BCAS1 0 genome.wustl.edu 37 20 52612451 52612451 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 20 52612451 52612451 T C SNP BCAS1 ENST00000371440 human ensembl 74_37 -1 known missense c.862 p.M288V 1.000 NULL NULL - no_errors BCAS1 HGNC ENSG00000064787 88 0 0 68 20 22.7273 RTFDC1 0 genome.wustl.edu 37 20 55048423 55048423 + Nonsense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 20 55048423 55048423 C T SNP RTFDC1 ENST00000357348 human ensembl 74_37 +1 known nonsense c.226 p.R76* 0.977 pfam_Rtf2_RING-finger pfam_Rtf2_RING-finger - no_errors RTFDC1 HGNC ENSG00000022277 93 0 0 69 10 12.6582 GNAS 0 genome.wustl.edu 37 20 57415433 57415433 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 20 57415433 57415433 C T SNP GNAS ENST00000313949 human ensembl 74_37 +1 known missense c.272 p.A91V 0.004 pfam_NESP55 pfam_NESP55 - no_errors GNAS HGNC ENSG00000087460 156 0 0 95 28 22.7642 GNAS 0 genome.wustl.edu 37 20 57429608 57429608 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 20 57429608 57429608 G A SNP GNAS ENST00000371100 human ensembl 74_37 +1 putative missense c.1288 p.D430N 0.042 NULL pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su - no_errors GNAS HGNC ENSG00000087460 16 0 0 16 3 15.7895 NELFCD 0 genome.wustl.edu 37 20 57566041 57566041 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 20 57566041 57566041 G A SNP NELFCD ENST00000602795 human ensembl 74_37 +1 known missense c.919 p.A307T 1.000 pfam_TH1 pfam_TH1 - no_errors NELFCD HGNC ENSG00000101158 163 0 0 128 17 11.7241 SYCP2 0 genome.wustl.edu 37 20 58457217 58457217 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 20 58457217 58457217 T C SNP SYCP2 ENST00000357552 human ensembl 74_37 -1 known missense c.2533 p.K845E 0.998 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 45 0 0 30 6 16.6667 CDH4 0 genome.wustl.edu 37 20 60485530 60485530 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 20 60485530 60485530 C T SNP CDH4 ENST00000360469 human ensembl 74_37 +1 known missense c.1241 p.T414M 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH4 HGNC ENSG00000179242 97 0 0 60 7 10.4478 TAF4 0 genome.wustl.edu 37 20 60581702 60581702 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 20 60581702 60581702 A G SNP TAF4 ENST00000252996 human ensembl 74_37 -1 known missense c.2087 p.V696A 1.000 NULL pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4 HGNC ENSG00000130699 43 0 0 30 7 18.9189 LSM14B 0 genome.wustl.edu 37 20 60704864 60704864 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 20 60704864 60704864 G A SNP LSM14B ENST00000279068 human ensembl 74_37 +1 known missense c.451 p.V151I 0.033 NULL pfam_FDF_dom,superfamily_LSM_dom - no_errors LSM14B HGNC ENSG00000149657 22 0 0 15 8 34.7826 ABHD16B 0 genome.wustl.edu 37 20 62493610 62493610 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 20 62493610 62493610 G A SNP ABHD16B ENST00000369916 human ensembl 74_37 +1 known silent c.717 p.A239 0.001 pfam_AB_hydrolase_1 pfam_AB_hydrolase_1 - no_errors ABHD16B HGNC ENSG00000183260 35 0 0 34 3 8.10811 RGS19 0 genome.wustl.edu 37 20 62707974 62707974 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 20 62707974 62707974 C T SNP RGS19 ENST00000332298 human ensembl 74_37 -1 known missense c.56 p.R19Q 0.891 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS19 HGNC ENSG00000171700 228 0 0 164 10 5.74713 OPRL1 0 genome.wustl.edu 37 20 62724254 62724254 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 20 62724254 62724254 G A SNP OPRL1 ENST00000336866 human ensembl 74_37 +1 known missense c.181 p.V61M 0.999 pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_X_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt - no_errors OPRL1 HGNC ENSG00000125510 99 0 0 55 8 12.6984 TMX4 0 genome.wustl.edu 37 20 7980488 7980488 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 20 7980488 7980488 G A SNP TMX4 ENST00000246024 human ensembl 74_37 -1 known missense c.358 p.R120C 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TMX4 HGNC ENSG00000125827 71 0 0 44 4 8.33333 APP 0 genome.wustl.edu 37 21 27423391 27423391 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 21 27423391 27423391 A G SNP APP ENST00000346798 human ensembl 74_37 -1 known missense c.587 p.V196A 0.009 NULL pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Amyloid_glyco_Abeta,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Amyloid_glyco_Abeta,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors APP HGNC ENSG00000142192 95 0 0 64 16 20 DONSON 0 genome.wustl.edu 37 21 34958406 34958406 + Nonsense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 21 34958406 34958406 G A SNP DONSON ENST00000303071 human ensembl 74_37 -1 known nonsense c.484 p.R162* 0.988 NULL NULL - no_errors DONSON HGNC ENSG00000159147 83 0 0 65 10 13.3333 ITSN1 0 genome.wustl.edu 37 21 35195929 35195929 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 21 35195929 35195929 C T SNP ITSN1 ENST00000381285 human ensembl 74_37 +1 known missense c.3155 p.S1052F 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,superfamily_P-loop_NTPase,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN1 HGNC ENSG00000205726 110 0 0 64 25 28.0899 SETD4 0 genome.wustl.edu 37 21 37417922 37417922 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 21 37417922 37417922 G A SNP SETD4 ENST00000332131 human ensembl 74_37 -1 known silent c.684 p.L228 0.002 pfam_SET_dom,pirsf_Lys_MTase_YDR198C_prd pfam_Rubisco_LSMT_subst-bd,pfam_SET_dom,pirsf_Lys_MTase_YDR198C_prd - no_errors SETD4 HGNC ENSG00000185917 108 0 0 66 13 16.4557 KCNJ6 0 genome.wustl.edu 37 21 39087018 39087018 + Missense_Mutation SNP C C G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 21 39087018 39087018 C G SNP KCNJ6 ENST00000288309 human ensembl 74_37 -1 known missense c.442 p.E148Q 1.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.2 - no_errors KCNJ6 HGNC ENSG00000157542 134 0 0 75 24 24.2424 KCNJ15 0 genome.wustl.edu 37 21 39671474 39671474 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 21 39671474 39671474 C T SNP KCNJ15 ENST00000328656 human ensembl 74_37 +1 known silent c.291 p.P97 0.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.3,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.1 - no_errors KCNJ15 HGNC ENSG00000157551 184 0 0 94 19 16.8142 BRWD1 0 genome.wustl.edu 37 21 40627652 40627652 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 21 40627652 40627652 C T SNP BRWD1 ENST00000333229 human ensembl 74_37 -1 known missense c.2174 p.R725H 0.982 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC ENSG00000185658 111 0 0 90 6 6.25 MCM3AP 0 genome.wustl.edu 37 21 47663516 47663516 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 21 47663516 47663516 C A SNP MCM3AP ENST00000291688 human ensembl 74_37 -1 known missense c.5159 p.R1720M 0.512 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ENSG00000160294 107 0 0 53 4 7.01754 IL17RA 0 genome.wustl.edu 37 22 17578808 17578808 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 22 17578808 17578808 C T SNP IL17RA ENST00000319363 human ensembl 74_37 +1 known silent c.285 p.H95 0.000 NULL pfam_SEFIR - no_errors IL17RA HGNC ENSG00000177663 76 0 0 41 8 16.3265 SEPT5 0 genome.wustl.edu 37 22 19707904 19707904 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 22 19707904 19707904 G A SNP SEPT5 ENST00000383045 human ensembl 74_37 +1 known missense c.451 p.G151S 1.000 pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT5 HGNC ENSG00000184702 92 0 0 55 4 6.77966 KLHL22 0 genome.wustl.edu 37 22 20796677 20796677 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 22 20796677 20796677 G A SNP KLHL22 ENST00000328879 human ensembl 74_37 -1 known missense c.1588 p.L530F 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,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 KLHL22 HGNC ENSG00000099910 71 0 0 71 5 6.57895 TOP3B 0 genome.wustl.edu 37 22 22319678 22319678 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 22 22319678 22319678 G A SNP TOP3B ENST00000357179 human ensembl 74_37 -1 known missense c.922 p.R308C 0.979 pfam_Topo_IA_cen,superfamily_Topo_IA_core_domain,smart_Topo_IA_DNA-bd pfam_Topo_IA_cen,pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA - no_errors TOP3B HGNC ENSG00000100038 39 0 0 22 2 8.33333 PRAME 0 genome.wustl.edu 37 22 22893468 22893468 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 22 22893468 22893468 C T SNP PRAME ENST00000398741 human ensembl 74_37 -1 known missense c.65 p.S22N 0.064 NULL NULL - no_errors PRAME HGNC ENSG00000185686 224 0 0 153 36 19.0476 GNAZ 0 genome.wustl.edu 37 22 23438116 23438116 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 22 23438116 23438116 C T SNP GNAZ ENST00000248996 human ensembl 74_37 +1 known silent c.234 p.I78 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_I - no_errors GNAZ HGNC ENSG00000128266 357 0 0 269 91 25.2778 BCR 0 genome.wustl.edu 37 22 23596021 23596021 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 22 23596021 23596021 G A SNP BCR ENST00000305877 human ensembl 74_37 +1 known missense c.1315 p.A439T 0.684 NULL pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_dom,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RhoGAP_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors BCR HGNC ENSG00000186716 103 0 0 80 5 5.88235 SPECC1L 0 genome.wustl.edu 37 22 24810529 24810529 + Nonsense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 22 24810529 24810529 C T SNP SPECC1L ENST00000314328 human ensembl 74_37 +1 known nonsense c.3292 p.R1098* 0.995 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_bHLH_dom,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1L HGNC ENSG00000100014 57 0 0 40 6 13.0435 TFIP11 0 genome.wustl.edu 37 22 26895170 26895170 + Missense_Mutation SNP T T G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 22 26895170 26895170 T G SNP TFIP11 ENST00000405938 human ensembl 74_37 -1 known missense c.1229 p.K410T 1.000 pfam_GCFC_dom pfam_GCFC_dom,pfam_TIP_N,pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors TFIP11 HGNC ENSG00000100109 111 0 0 74 20 21.2766 ASCC2 0 genome.wustl.edu 37 22 30188437 30188437 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 22 30188437 30188437 G A SNP ASCC2 ENST00000307790 human ensembl 74_37 -1 known silent c.2007 p.D669 0.214 NULL pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE - no_errors ASCC2 HGNC ENSG00000100325 624 0 0 424 96 18.4615 MORC2 0 genome.wustl.edu 37 22 31333609 31333609 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 22 31333609 31333609 G A SNP MORC2 ENST00000397641 human ensembl 74_37 -1 known missense c.1459 p.R487C 1.000 NULL pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Carb-bd_dom,pfscan_Znf_CW - no_errors MORC2 HGNC ENSG00000133422 100 0 0 58 14 19.4444 LIMK2 0 genome.wustl.edu 37 22 31658139 31658139 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 22 31658139 31658139 A G SNP LIMK2 ENST00000331728 human ensembl 74_37 +1 known missense c.571 p.S191G 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Znf_LIM,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK2 HGNC ENSG00000182541 217 0 0 151 19 11.1765 APOL6 0 genome.wustl.edu 37 22 36054849 36054849 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 22 36054849 36054849 G A SNP APOL6 ENST00000409652 human ensembl 74_37 +1 known missense c.238 p.V80M 0.010 pfam_ApoL pfam_ApoL - no_errors APOL6 HGNC ENSG00000221963 72 0 0 39 6 13.3333 APOL5 0 genome.wustl.edu 37 22 36122584 36122584 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 22 36122584 36122584 G A SNP APOL5 ENST00000249044 human ensembl 74_37 +1 known missense c.469 p.A157T 0.151 pfam_ApoL pfam_ApoL - no_errors APOL5 HGNC ENSG00000128313 170 0 0 95 29 23.3871 FOXRED2 0 genome.wustl.edu 37 22 36897391 36897391 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 22 36897391 36897391 G A SNP FOXRED2 ENST00000216187 human ensembl 74_37 -1 known silent c.1113 p.Y371 1.000 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors FOXRED2 HGNC ENSG00000100350 84 0 0 64 10 13.5135 FOXRED2 0 genome.wustl.edu 37 22 36902129 36902129 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 22 36902129 36902129 T C SNP FOXRED2 ENST00000216187 human ensembl 74_37 -1 known missense c.341 p.Y114C 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors FOXRED2 HGNC ENSG00000100350 95 0 0 83 7 7.77778 CYTH4 0 genome.wustl.edu 37 22 37699442 37699442 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 22 37699442 37699442 G A SNP CYTH4 ENST00000248901 human ensembl 74_37 +1 known missense c.695 p.R232Q 0.908 pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors CYTH4 HGNC ENSG00000100055 50 0 0 25 9 26.4706 TRIOBP 0 genome.wustl.edu 37 22 38120705 38120705 + Silent SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 22 38120705 38120705 C A SNP TRIOBP ENST00000406386 human ensembl 74_37 +1 known silent c.2142 p.T714 0.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 153 0 0 100 19 15.9664 TRIOBP 0 genome.wustl.edu 37 22 38121668 38121668 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 22 38121668 38121668 C T SNP TRIOBP ENST00000406386 human ensembl 74_37 +1 known silent c.3105 p.H1035 0.550 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 210 0 0 164 28 14.5833 SLC16A8 0 genome.wustl.edu 37 22 38476857 38476857 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 22 38476857 38476857 C T SNP SLC16A8 ENST00000320521 human ensembl 74_37 -1 known silent c.1188 p.P396 0.982 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A8 HGNC ENSG00000100156 10 0 0 4 3 42.8571 KCNJ4 0 genome.wustl.edu 37 22 38824062 38824062 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 22 38824062 38824062 C T SNP KCNJ4 ENST00000303592 human ensembl 74_37 -1 known missense c.76 p.G26S 1.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.3 - no_errors KCNJ4 HGNC ENSG00000168135 491 1 0.203252 308 85 21.6285 TAB1 0 genome.wustl.edu 37 22 39813774 39813774 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 22 39813774 39813774 C T SNP TAB1 ENST00000216160 human ensembl 74_37 +1 known missense c.470 p.T157M 0.000 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors TAB1 HGNC ENSG00000100324 94 0 0 60 16 21.0526 TNRC6B 0 genome.wustl.edu 37 22 40711509 40711509 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 22 40711509 40711509 C T SNP TNRC6B ENST00000454349 human ensembl 74_37 +1 known missense c.4901 p.S1634L 0.995 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6B HGNC ENSG00000100354 58 0 0 36 13 26.5306 EP300 0 genome.wustl.edu 37 22 41527551 41527551 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 22 41527551 41527551 C T SNP EP300 ENST00000263253 human ensembl 74_37 +1 known missense c.1442 p.P481L 0.978 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 109 0 0 78 7 8.23529 POLDIP3 0 genome.wustl.edu 37 22 42981828 42981828 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 22 42981828 42981828 G A SNP POLDIP3 ENST00000252115 human ensembl 74_37 -1 known missense c.1235 p.T412M 0.995 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors POLDIP3 HGNC ENSG00000100227 230 0 0 158 39 19.797 ARHGAP8 0 genome.wustl.edu 37 22 45128176 45128176 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 22 45128176 45128176 A G SNP ARHGAP8 ENST00000517296 human ensembl 74_37 +1 known missense c.460 p.N154D 1.000 pfam_HbrB pfam_RhoGAP_dom,pfam_HbrB,pfam_CRAL-TRIO_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CRAL-TRIO_dom,smart_RhoGAP_dom,pfscan_CRAL-TRIO_dom,pfscan_RhoGAP_dom - no_errors ARHGAP8 HGNC ENSG00000241484 87 0 0 69 5 6.75676 ATXN10 0 genome.wustl.edu 37 22 46096163 46096163 + Silent SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 22 46096163 46096163 T C SNP ATXN10 ENST00000252934 human ensembl 74_37 +1 known silent c.393 p.A131 0.984 superfamily_ARM-type_fold pfam_Ataxin-10_domain,superfamily_ARM-type_fold - no_errors ATXN10 HGNC ENSG00000130638 38 0 0 35 7 16.6667 BRD1 0 genome.wustl.edu 37 22 50217190 50217190 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 22 50217190 50217190 C T SNP BRD1 ENST00000216267 human ensembl 74_37 -1 known missense c.776 p.R259H 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,prints_Bromodomain,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors BRD1 HGNC ENSG00000100425 59 0 0 26 9 25.7143 SBF1 0 genome.wustl.edu 37 22 50900529 50900529 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 22 50900529 50900529 C T SNP SBF1 ENST00000380817 human ensembl 74_37 -1 known missense c.2416 p.E806K 0.999 NULL pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC ENSG00000100241 166 0 0 111 43 27.9221 SHANK3 0 genome.wustl.edu 37 22 51160646 51160646 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 22 51160646 51160646 G A SNP SHANK3 ENST00000262795 human ensembl 74_37 +1 known missense c.4433 p.R1478H 1.000 NULL pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK3 HGNC ENSG00000251322 35 0 0 20 5 20 RABL2B 0 genome.wustl.edu 37 22 51208372 51208372 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 22 51208372 51208372 G A SNP RABL2B ENST00000354869 human ensembl 74_37 -1 known missense c.370 p.P124S 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RABL2B HGNC ENSG00000079974 81 0 0 50 17 25.3731 NXPE3 0 genome.wustl.edu 37 3 101504476 101504476 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 101504476 101504476 C T SNP NXPE3 ENST00000273347 human ensembl 74_37 +1 known silent c.36 p.C12 1.000 NULL pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE3 HGNC ENSG00000144815 175 0 0 145 11 7.05128 KIAA1524 0 genome.wustl.edu 37 3 108295157 108295157 + Silent SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 108295157 108295157 T C SNP KIAA1524 ENST00000295746 human ensembl 74_37 -1 known silent c.855 p.L285 0.998 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA1524 HGNC ENSG00000163507 134 0 0 85 18 17.4757 CCDC80 0 genome.wustl.edu 37 3 112357212 112357212 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 112357212 112357212 C T SNP CCDC80 ENST00000206423 human ensembl 74_37 -1 known missense c.1541 p.R514Q 0.445 NULL NULL - no_errors CCDC80 HGNC ENSG00000091986 145 0 0 84 25 22.9358 KIAA2018 0 genome.wustl.edu 37 3 113376015 113376015 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 113376015 113376015 T C SNP KIAA2018 ENST00000316407 human ensembl 74_37 -1 known missense c.4514 p.Q1505R 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 115 0 0 98 9 8.41121 KIAA2018 0 genome.wustl.edu 37 3 113376613 113376613 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 113376613 113376613 T C SNP KIAA2018 ENST00000316407 human ensembl 74_37 -1 known missense c.3916 p.T1306A 0.076 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 171 0 0 121 30 19.8675 SEMA5B 0 genome.wustl.edu 37 3 122647874 122647874 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 122647874 122647874 C T SNP SEMA5B ENST00000451055 human ensembl 74_37 -1 known missense c.668 p.R223H 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5B HGNC ENSG00000082684 59 0 0 42 15 26.3158 KALRN 0 genome.wustl.edu 37 3 124237266 124237266 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 124237266 124237266 G A SNP KALRN ENST00000240874 human ensembl 74_37 +1 known missense c.4949 p.R1650Q 1.000 NULL pfam_Spectrin_repeat,pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 141 0 0 109 17 13.4921 KALRN 0 genome.wustl.edu 37 3 124377290 124377290 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 124377290 124377290 C T SNP KALRN ENST00000360013 human ensembl 74_37 +1 known missense c.6046 p.H2016Y 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 98 0 0 68 9 11.6883 MUC13 0 genome.wustl.edu 37 3 124627007 124627007 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 124627007 124627007 C T SNP MUC13 ENST00000311075 human ensembl 74_37 -1 known missense c.1523 p.R508H 0.000 NULL pfam_SEA_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors MUC13 HGNC ENSG00000173702 71 0 0 50 7 12.2807 KLF15 0 genome.wustl.edu 37 3 126071347 126071347 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 126071347 126071347 G A SNP KLF15 ENST00000296233 human ensembl 74_37 -1 known missense c.419 p.T140I 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF15 HGNC ENSG00000163884 64 0 0 28 11 28.2051 COL6A5 0 genome.wustl.edu 37 3 130159400 130159400 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 130159400 130159400 C T SNP COL6A5 ENST00000265379 human ensembl 74_37 +1 known missense c.6218 p.T2073I 0.007 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 53 0 0 40 4 9.09091 COL6A6 0 genome.wustl.edu 37 3 130289784 130289784 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 130289784 130289784 G A SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known missense c.2524 p.G842S 0.998 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 69 0 0 35 12 25.5319 DBR1 0 genome.wustl.edu 37 3 137886142 137886142 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 137886142 137886142 C T SNP DBR1 ENST00000477557 human ensembl 74_37 -1 known missense c.328 p.A110T 1.000 pfam_PEstase_dom pfam_PEstase_dom - no_errors DBR1 HGNC ENSG00000138231 61 0 0 36 3 7.69231 ATP1B3 0 genome.wustl.edu 37 3 141626091 141626091 + Silent SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 141626091 141626091 T C SNP ATP1B3 ENST00000286371 human ensembl 74_37 +1 known silent c.321 p.I107 0.000 pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta - no_errors ATP1B3 HGNC ENSG00000069849 57 0 0 46 15 24.5902 PAQR9 0 genome.wustl.edu 37 3 142681357 142681357 + Missense_Mutation SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 142681357 142681357 G T SNP PAQR9 ENST00000340634 human ensembl 74_37 -1 known missense c.822 p.F274L 0.443 pfam_HlyIII-related pfam_HlyIII-related - no_errors PAQR9 HGNC ENSG00000188582 101 0 0 111 22 16.5414 U2SURP 0 genome.wustl.edu 37 3 142735133 142735133 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 142735133 142735133 A G SNP U2SURP ENST00000473835 human ensembl 74_37 +1 known missense c.356 p.E119G 1.000 NULL pfam_Surp,pfam_RRM_dom,superfamily_Surp,superfamily_ENTH_VHS,smart_RRM_dom,smart_Surp,smart_CID_dom,pfscan_Surp,pfscan_RRM_dom - no_errors U2SURP HGNC ENSG00000163714 146 0 0 104 33 24.0876 CHST2 0 genome.wustl.edu 37 3 142840509 142840509 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 142840509 142840509 C T SNP CHST2 ENST00000309575 human ensembl 74_37 +1 known missense c.851 p.P284L 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST2 HGNC ENSG00000175040 15 0 0 5 3 37.5 P2RY13 0 genome.wustl.edu 37 3 151046205 151046205 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 151046205 151046205 G A SNP P2RY13 ENST00000325602 human ensembl 74_37 -1 known silent c.639 p.C213 0.277 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_P2Y13_rcpt,prints_GPCR_Rhodpsn,prints_P2Y14_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors P2RY13 HGNC ENSG00000181631 109 0 0 48 10 17.2414 IGSF10 0 genome.wustl.edu 37 3 151164416 151164416 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 151164416 151164416 C A SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known missense c.3353 p.S1118I 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 237 0 0 139 46 24.8649 DHX36 0 genome.wustl.edu 37 3 154002773 154002773 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 154002773 154002773 C T SNP DHX36 ENST00000496811 human ensembl 74_37 -1 known missense c.2035 p.A679T 1.000 pfam_Helicase-assoc_dom,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX36 HGNC ENSG00000174953 124 0 0 74 14 15.9091 DHX36 0 genome.wustl.edu 37 3 154010350 154010350 + Nonsense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 154010350 154010350 G A SNP DHX36 ENST00000496811 human ensembl 74_37 -1 known nonsense c.1804 p.R602* 0.997 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX36 HGNC ENSG00000174953 279 0 0 194 50 20.4918 CCNL1 0 genome.wustl.edu 37 3 156867109 156867109 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 156867109 156867109 C T SNP CCNL1 ENST00000295926 human ensembl 74_37 -1 known missense c.1199 p.R400Q 0.585 pirsf_Cyclin_L pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L - no_errors CCNL1 HGNC ENSG00000163660 94 0 0 86 10 10.4167 LRRIQ4 0 genome.wustl.edu 37 3 169548401 169548401 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 169548401 169548401 C T SNP LRRIQ4 ENST00000340806 human ensembl 74_37 +1 known missense c.1316 p.A439V 0.341 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ4 HGNC ENSG00000188306 32 0 0 16 8 33.3333 PHC3 0 genome.wustl.edu 37 3 169889147 169889147 + Missense_Mutation SNP T T A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 169889147 169889147 T A SNP PHC3 ENST00000497658 human ensembl 74_37 -1 known missense c.428 p.N143I 0.000 NULL NULL - no_errors PHC3 HGNC ENSG00000173889 18 0 0 18 3 14.2857 TNIK 0 genome.wustl.edu 37 3 170801980 170801980 + Nonsense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 170801980 170801980 G A SNP TNIK ENST00000436636 human ensembl 74_37 -1 known nonsense c.3133 p.R1045* 1.000 smart_Citron pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors TNIK HGNC ENSG00000154310 52 0 0 35 5 12.5 YEATS2-AS1 0 genome.wustl.edu 37 3 183526982 183526982 + RNA SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 183526982 183526982 G T SNP YEATS2-AS1 ENST00000425008 human ensembl 74_37 -1 known rna NULL NULL 0.108 - - - no_errors YEATS2-AS1 HGNC ENSG00000233885 177 0 0 159 27 14.5161 HTR3E 0 genome.wustl.edu 37 3 183824060 183824060 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 183824060 183824060 C T SNP HTR3E ENST00000335304 human ensembl 74_37 +1 known missense c.1115 p.P372L 0.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel - no_errors HTR3E HGNC ENSG00000186038 89 0 0 37 17 31.4815 ABCF3 0 genome.wustl.edu 37 3 183908909 183908909 + Splice_Site SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 183908909 183908909 A G SNP ABCF3 ENST00000429586 human ensembl 74_37 +1 known splice_site c.1437-2 e16-2 1.000 - - - no_errors ABCF3 HGNC ENSG00000161204 149 0 0 73 34 31.7757 CLCN2 0 genome.wustl.edu 37 3 184073564 184073564 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 184073564 184073564 C T SNP CLCN2 ENST00000265593 human ensembl 74_37 -1 known missense c.1088 p.R363H 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl-channel-2 - no_errors CLCN2 HGNC ENSG00000114859 53 0 0 22 4 15.3846 VPS8 0 genome.wustl.edu 37 3 184550540 184550540 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 184550540 184550540 G A SNP VPS8 ENST00000287546 human ensembl 74_37 +1 known missense c.286 p.D96N 1.000 superfamily_Quinonprotein_ADH-like_supfam superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors VPS8 HGNC ENSG00000156931 27 0 0 18 5 21.7391 MAP3K13 0 genome.wustl.edu 37 3 185183551 185183551 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 185183551 185183551 C T SNP MAP3K13 ENST00000265026 human ensembl 74_37 +1 known missense c.1405 p.R469C 1.000 pirsf_MAP3K12_MAP3K13,superfamily_Kinase-like_dom pirsf_MAP3K12_MAP3K13,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K13 HGNC ENSG00000073803 211 1 0.471698 130 34 20.7317 ADIPOQ 0 genome.wustl.edu 37 3 186571971 186571971 + Splice_Site SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 186571971 186571971 A G SNP ADIPOQ ENST00000320741 human ensembl 74_37 +1 known splice_site c.215-2 e2-2 0.979 - - - no_errors ADIPOQ HGNC ENSG00000181092 53 0 0 42 8 16 RTP1 0 genome.wustl.edu 37 3 186917577 186917577 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 186917577 186917577 G A SNP RTP1 ENST00000312295 human ensembl 74_37 +1 known missense c.511 p.G171S 0.984 NULL NULL - no_errors RTP1 HGNC ENSG00000175077 57 0 0 43 3 6.52174 MUC4 0 genome.wustl.edu 37 3 195507926 195507926 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 195507926 195507926 C T SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.10525 p.G3509S 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 9 0 0 1 3 75 KCNH8 0 genome.wustl.edu 37 3 19559535 19559535 + Missense_Mutation SNP C C G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 19559535 19559535 C G SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known missense c.2588 p.T863S 1.000 superfamily_tRNA-bd_arm pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 60 0 0 27 16 37.2093 TFRC 0 genome.wustl.edu 37 3 195789785 195789785 + Silent SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 195789785 195789785 A G SNP TFRC ENST00000360110 human ensembl 74_37 -1 known silent c.1344 p.I448 0.776 pfam_Peptidase_M28 pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors TFRC HGNC ENSG00000072274 71 0 0 62 11 15.0685 TM4SF19 0 genome.wustl.edu 37 3 196054330 196054330 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 196054330 196054330 G A SNP TM4SF19 ENST00000273695 human ensembl 74_37 -1 known silent c.132 p.T44 0.999 pfam_L6_membrane pfam_L6_membrane - no_errors TM4SF19 HGNC ENSG00000145107 152 0 0 108 19 14.9606 BDH1 0 genome.wustl.edu 37 3 197241135 197241135 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 197241135 197241135 C A SNP BDH1 ENST00000358186 human ensembl 74_37 -1 known missense c.562 p.G188C 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors BDH1 HGNC ENSG00000161267 53 0 0 30 5 14.2857 NKIRAS1 0 genome.wustl.edu 37 3 23942333 23942333 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 23942333 23942333 T C SNP NKIRAS1 ENST00000388759 human ensembl 74_37 -1 known missense c.302 p.K101R 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors NKIRAS1 HGNC ENSG00000197885 65 0 0 48 10 17.2414 SCN5A 0 genome.wustl.edu 37 3 38618168 38618168 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 38618168 38618168 C A SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.3495 p.E1165D 1.000 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 19 0 0 16 5 23.8095 SCN10A 0 genome.wustl.edu 37 3 38739984 38739984 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 38739984 38739984 C T SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known missense c.4727 p.R1576H 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 116 0 0 81 16 16.4948 SCN10A 0 genome.wustl.edu 37 3 38768416 38768416 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 38768416 38768416 C T SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known missense c.2768 p.R923H 0.000 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 209 0 0 145 11 7.05128 SCN11A 0 genome.wustl.edu 37 3 38950583 38950583 + Missense_Mutation SNP C C G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 38950583 38950583 C G SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known missense c.1204 p.A402P 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 198 0 0 151 15 9.03614 SCN11A 0 genome.wustl.edu 37 3 38950604 38950604 + Missense_Mutation SNP T T G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 38950604 38950604 T G SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known missense c.1183 p.T395P 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 182 0 0 133 12 8.27586 ULK4 0 genome.wustl.edu 37 3 41288379 41288379 + RNA SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 41288379 41288379 G A SNP ULK4 ENST00000489118 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ULK4 HGNC ENSG00000168038 21 0 0 18 6 25 ANO10 0 genome.wustl.edu 37 3 43596770 43596770 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 43596770 43596770 C A SNP ANO10 ENST00000292246 human ensembl 74_37 -1 known missense c.1668 p.Q556H 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO10 HGNC ENSG00000160746 93 0 0 67 9 11.8421 ZNF445 0 genome.wustl.edu 37 3 44490207 44490207 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 44490207 44490207 T C SNP ZNF445 ENST00000396077 human ensembl 74_37 -1 known missense c.956 p.N319S 0.000 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,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 ZNF445 HGNC ENSG00000185219 42 0 0 20 6 23.0769 ZNF35 0 genome.wustl.edu 37 3 44700257 44700257 + Missense_Mutation SNP A A C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 44700257 44700257 A C SNP ZNF35 ENST00000396056 human ensembl 74_37 +1 known missense c.402 p.K134N 0.578 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF35 HGNC ENSG00000169981 85 0 0 57 4 6.55738 CLEC3B 0 genome.wustl.edu 37 3 45077258 45077258 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 45077258 45077258 C T SNP CLEC3B ENST00000296130 human ensembl 74_37 +1 known missense c.451 p.R151C 0.000 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 - no_errors CLEC3B HGNC ENSG00000163815 90 0 0 58 10 14.7059 XCR1 0 genome.wustl.edu 37 3 46062922 46062922 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 46062922 46062922 G A SNP XCR1 ENST00000309285 human ensembl 74_37 -1 known missense c.518 p.S173L 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_XCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Brdyknn_rcpt - no_errors XCR1 HGNC ENSG00000173578 60 0 0 41 5 10.8696 CCR3 0 genome.wustl.edu 37 3 46307587 46307587 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 46307587 46307587 G A SNP CCR3 ENST00000545097 human ensembl 74_37 +1 known missense c.1001 p.R334H 0.002 pfam_7TM_GPCR_olfarory/Srsx,prints_Chemokine_rcpt,prints_Chemokine_CCR1 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR3,prints_Chemokine_CCR1 - no_errors CCR3 HGNC ENSG00000183625 72 0 0 65 11 14.4737 LRRC2 0 genome.wustl.edu 37 3 46560523 46560523 + Missense_Mutation SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 46560523 46560523 G T SNP LRRC2 ENST00000296144 human ensembl 74_37 -1 known missense c.1097 p.S366Y 0.992 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC2 HGNC ENSG00000163827 210 0 0 135 40 22.8571 CELSR3 0 genome.wustl.edu 37 3 48696844 48696844 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 48696844 48696844 C A SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known missense c.3224 p.R1075L 0.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,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 CELSR3 HGNC ENSG00000008300 255 0 0 145 41 22.043 LAMB2 0 genome.wustl.edu 37 3 49160752 49160752 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 49160752 49160752 C T SNP LAMB2 ENST00000305544 human ensembl 74_37 -1 known missense c.4037 p.R1346H 0.456 NULL pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 163 0 0 106 28 20.8955 APEH 0 genome.wustl.edu 37 3 49716378 49716378 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 49716378 49716378 G A SNP APEH ENST00000296456 human ensembl 74_37 +1 known missense c.1154 p.R385Q 1.000 NULL pfam_Peptidase_S9,pfam_AB_hydrolase_1,pfam_Dienelactn_hydro - no_errors APEH HGNC ENSG00000164062 106 0 0 50 15 23.0769 HEMK1 0 genome.wustl.edu 37 3 50617831 50617831 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 50617831 50617831 C T SNP HEMK1 ENST00000232854 human ensembl 74_37 +1 known missense c.1000 p.R334W 0.432 NULL pfam_Small_mtfrase_dom,pfam_RNA_methylase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_RNA_MeTrfase_RsmD,pfam_Methyltransf_11,prints_D21N6_MeTrfase,tigrfam_Release_fac_Glu-N5_MeTfrase,tigrfam_Modification_methylase_HemK - no_errors HEMK1 HGNC ENSG00000114735 75 0 0 61 7 10.2941 PPM1M 0 genome.wustl.edu 37 3 52282240 52282240 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 52282240 52282240 G A SNP PPM1M ENST00000457351 human ensembl 74_37 +1 known missense c.782 p.R261Q 1.000 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1M HGNC ENSG00000164088 31 0 0 16 4 20 GLT8D1 0 genome.wustl.edu 37 3 52730630 52730630 + Missense_Mutation SNP A A C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 52730630 52730630 A C SNP GLT8D1 ENST00000266014 human ensembl 74_37 -1 known missense c.375 p.I125M 0.812 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GLT8D1 HGNC ENSG00000016864 76 0 0 69 4 5.47945 ITIH4 0 genome.wustl.edu 37 3 52860835 52860835 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 52860835 52860835 C T SNP ITIH4 ENST00000266041 human ensembl 74_37 -1 known missense c.491 p.R164Q 0.007 NULL pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH4 HGNC ENSG00000055955 86 0 0 55 8 12.6984 PRKCD 0 genome.wustl.edu 37 3 53212511 53212511 + Nonsense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 53212511 53212511 C T SNP PRKCD ENST00000330452 human ensembl 74_37 +1 known nonsense c.73 p.Q25* 0.996 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,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors PRKCD HGNC ENSG00000163932 78 0 0 34 13 27.6596 CACNA1D 0 genome.wustl.edu 37 3 53783318 53783318 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 53783318 53783318 C T SNP CACNA1D ENST00000288139 human ensembl 74_37 +1 known missense c.3398 p.S1133L 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 53 0 0 35 8 18.6047 ERC2 0 genome.wustl.edu 37 3 56468581 56468581 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 56468581 56468581 G A SNP ERC2 ENST00000288221 human ensembl 74_37 -1 known missense c.455 p.A152V 1.000 pfam_CAZ_cplx_RIM-bd_prot pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin - no_errors ERC2 HGNC ENSG00000187672 258 0 0 184 36 16.3636 PDE12 0 genome.wustl.edu 37 3 57545470 57545470 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 57545470 57545470 C T SNP PDE12 ENST00000311180 human ensembl 74_37 +1 known silent c.1569 p.S523 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors PDE12 HGNC ENSG00000174840 157 0 0 99 25 20.1613 FLNB 0 genome.wustl.edu 37 3 58089736 58089736 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 58089736 58089736 G A SNP FLNB ENST00000295956 human ensembl 74_37 +1 known missense c.1534 p.A512T 0.003 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 128 0 0 87 26 23.0088 FAM107A 0 genome.wustl.edu 37 3 58552332 58552332 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 58552332 58552332 C T SNP FAM107A ENST00000360997 human ensembl 74_37 -1 known missense c.418 p.E140K 0.035 NULL pfam_DUF1151 - no_errors FAM107A HGNC ENSG00000168309 134 0 0 94 11 10.4762 C3orf67 0 genome.wustl.edu 37 3 58792166 58792166 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 58792166 58792166 C T SNP C3orf67 ENST00000482387 human ensembl 74_37 -1 known missense c.1817 p.R606H 0.972 NULL NULL - no_errors C3orf67 HGNC ENSG00000163689 82 0 0 58 9 13.4328 PTPRG 0 genome.wustl.edu 37 3 61975386 61975386 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 61975386 61975386 C T SNP PTPRG ENST00000474889 human ensembl 74_37 +1 known missense c.278 p.A93V 0.978 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRG HGNC ENSG00000144724 82 0 0 68 8 10.5263 ADAMTS9 0 genome.wustl.edu 37 3 64580089 64580089 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 64580089 64580089 C A SNP ADAMTS9 ENST00000498707 human ensembl 74_37 -1 known missense c.4201 p.G1401C 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS9 HGNC ENSG00000163638 231 0 0 182 12 6.18557 SLC25A26 0 genome.wustl.edu 37 3 66419942 66419942 + Silent SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 66419942 66419942 A G SNP SLC25A26 ENST00000354883 human ensembl 74_37 +1 known silent c.609 p.A203 0.876 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A26 HGNC ENSG00000144741 10 0 0 4 7 63.6364 LRIG1 0 genome.wustl.edu 37 3 66467568 66467568 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 66467568 66467568 G A SNP LRIG1 ENST00000273261 human ensembl 74_37 -1 known missense c.488 p.P163L 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG1 HGNC ENSG00000144749 317 0 0 249 36 12.6316 FOXP1 0 genome.wustl.edu 37 3 71247446 71247446 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 71247446 71247446 G A SNP FOXP1 ENST00000318789 human ensembl 74_37 -1 known silent c.87 p.C29 0.000 NULL pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXP1 HGNC ENSG00000114861 290 0 0 174 64 26.8908 VGLL3 0 genome.wustl.edu 37 3 87027842 87027842 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 87027842 87027842 G A SNP VGLL3 ENST00000398399 human ensembl 74_37 -1 known silent c.237 p.A79 1.000 NULL pfam_Vg_Tdu,smart_TDU_repeat - no_errors VGLL3 HGNC ENSG00000206538 77 0 0 36 16 30.7692 SRGAP3 0 genome.wustl.edu 37 3 9097969 9097969 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 9097969 9097969 C T SNP SRGAP3 ENST00000383836 human ensembl 74_37 -1 known missense c.1073 p.R358H 1.000 NULL pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP3 HGNC ENSG00000196220 133 0 0 107 6 5.30973 SETD5 0 genome.wustl.edu 37 3 9483391 9483391 + Nonsense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 9483391 9483391 C T SNP SETD5 ENST00000402198 human ensembl 74_37 +1 known nonsense c.925 p.Q309* 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SETD5 HGNC ENSG00000168137 171 0 0 108 18 14.2857 COL8A1 0 genome.wustl.edu 37 3 99514689 99514689 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 99514689 99514689 G A SNP COL8A1 ENST00000261037 human ensembl 74_37 +1 known silent c.1944 p.P648 0.236 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A1 HGNC ENSG00000144810 98 0 0 67 11 14.1026 DAPP1 0 genome.wustl.edu 37 4 100789327 100789327 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 100789327 100789327 G A SNP DAPP1 ENST00000512369 human ensembl 74_37 +1 known silent c.828 p.S276 0.004 NULL pfam_SH2,pfam_Pleckstrin_homology,smart_SH2,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH2,prints_SH2 - no_errors DAPP1 HGNC ENSG00000070190 85 0 0 47 9 16.0714 CENPE 0 genome.wustl.edu 37 4 104103997 104103997 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 104103997 104103997 G A SNP CENPE ENST00000265148 human ensembl 74_37 -1 known silent c.885 p.S295 0.680 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 97 0 0 76 28 26.9231 AIMP1 0 genome.wustl.edu 37 4 107246152 107246152 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 107246152 107246152 C T SNP AIMP1 ENST00000394701 human ensembl 74_37 +1 known missense c.58 p.R20C 1.000 NULL pfam_tRNA-bd_dom,superfamily_NA-bd_OB-fold,superfamily_t-SNARE,pfscan_tRNA-bd_dom - no_errors AIMP1 HGNC ENSG00000164022 48 0 0 28 6 17.6471 CAMK2D 0 genome.wustl.edu 37 4 114436226 114436226 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 114436226 114436226 C T SNP CAMK2D ENST00000454265 human ensembl 74_37 -1 known missense c.818 p.C273Y 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMK2D HGNC ENSG00000145349 161 0 0 117 25 17.6056 TRAM1L1 0 genome.wustl.edu 37 4 118005620 118005620 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 118005620 118005620 G A SNP TRAM1L1 ENST00000310754 human ensembl 74_37 -1 known silent c.930 p.Y310 0.002 pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom - no_errors TRAM1L1 HGNC ENSG00000174599 140 0 0 115 10 8 TRPC3 0 genome.wustl.edu 37 4 122853626 122853626 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 122853626 122853626 G A SNP TRPC3 ENST00000379645 human ensembl 74_37 -1 known missense c.787 p.H263Y 1.000 superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC ENSG00000138741 51 0 0 46 7 13.2075 ANKRD50 0 genome.wustl.edu 37 4 125590320 125590320 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 125590320 125590320 C T SNP ANKRD50 ENST00000504087 human ensembl 74_37 -1 known missense c.4112 p.S1371N 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD50 HGNC ENSG00000151458 146 0 0 88 22 20 FAT4 0 genome.wustl.edu 37 4 126238618 126238618 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 126238618 126238618 C A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.1052 p.P351Q 0.985 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 65 0 0 53 9 14.5161 FAT4 0 genome.wustl.edu 37 4 126239735 126239735 + Silent SNP T T G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 126239735 126239735 T G SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known silent c.2169 p.T723 0.240 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 87 0 0 52 18 25.7143 FAT4 0 genome.wustl.edu 37 4 126372007 126372007 + Missense_Mutation SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 126372007 126372007 G T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.9836 p.C3279F 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 95 0 0 49 16 24.6154 FAT4 0 genome.wustl.edu 37 4 126373015 126373015 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 126373015 126373015 G A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.10844 p.R3615Q 0.819 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 145 0 0 92 17 15.5963 FAT4 0 genome.wustl.edu 37 4 126373581 126373581 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 126373581 126373581 G A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.11410 p.D3804N 1.000 pfscan_EG-like_dom pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 107 0 0 59 21 26.25 TBC1D9 0 genome.wustl.edu 37 4 141583179 141583179 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 141583179 141583179 C T SNP TBC1D9 ENST00000442267 human ensembl 74_37 -1 known silent c.1671 p.T557 0.005 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,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 168 0 0 134 15 10.0671 OTUD4 0 genome.wustl.edu 37 4 146064586 146064586 + Silent SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 146064586 146064586 A G SNP OTUD4 ENST00000447906 human ensembl 74_37 -1 known silent c.1614 p.D538 0.864 NULL pfam_OTU,pfscan_OTU - no_errors OTUD4 HGNC ENSG00000164164 42 0 0 32 4 11.1111 FBXW7 0 genome.wustl.edu 37 4 153247366 153247366 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 153247366 153247366 C T SNP FBXW7 ENST00000281708 human ensembl 74_37 -1 known missense c.1436 p.R479Q 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,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 90 0 0 59 9 13.2353 DCHS2 0 genome.wustl.edu 37 4 155156861 155156861 + Silent SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 155156861 155156861 G T SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known silent c.7578 p.S2526 0.001 smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 113 0 0 66 10 13.1579 GUCY1B3 0 genome.wustl.edu 37 4 156710914 156710914 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 156710914 156710914 C T SNP GUCY1B3 ENST00000264424 human ensembl 74_37 +1 known missense c.346 p.R116C 1.000 pfam_Heme_NO-bd,superfamily_NO_sig/Golgi_transp_ligand-bd pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1B3 HGNC ENSG00000061918 124 0 0 78 29 27.1028 BST1 0 genome.wustl.edu 37 4 15733442 15733442 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 15733442 15733442 G A SNP BST1 ENST00000265016 human ensembl 74_37 +1 known missense c.931 p.V311M 0.037 NULL pfam_ADP-ribosyl_cyclase - no_errors BST1 HGNC ENSG00000109743 27 0 0 20 3 13.0435 CPE 0 genome.wustl.edu 37 4 166403505 166403505 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 166403505 166403505 C T SNP CPE ENST00000402744 human ensembl 74_37 +1 known missense c.784 p.R262W 0.724 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPE HGNC ENSG00000109472 99 0 0 83 15 15.3061 TENM3 0 genome.wustl.edu 37 4 183721292 183721292 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 183721292 183721292 G A SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.7888 p.A2630T 0.999 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 11 0 0 2 4 66.6667 MLF1IP 0 genome.wustl.edu 37 4 185618812 185618812 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 185618812 185618812 C T SNP MLF1IP ENST00000281453 human ensembl 74_37 -1 known missense c.1132 p.V378I 0.000 NULL NULL - no_errors MLF1IP HGNC ENSG00000151725 40 0 0 30 11 26.8293 FAT1 0 genome.wustl.edu 37 4 187519257 187519257 + Silent SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 187519257 187519257 G T SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known silent c.12126 p.A4042 0.286 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 59 0 0 49 3 5.76923 FAT1 0 genome.wustl.edu 37 4 187540947 187540947 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 187540947 187540947 C T SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.6793 p.A2265T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 183 0 0 108 39 26.5306 DOK7 0 genome.wustl.edu 37 4 3495067 3495067 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 3495067 3495067 C T SNP DOK7 ENST00000389653 human ensembl 74_37 +1 known missense c.1354 p.R452W 0.011 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors DOK7 HGNC ENSG00000175920 18 0 0 8 3 27.2727 LRPAP1 0 genome.wustl.edu 37 4 3526677 3526677 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 3526677 3526677 G A SNP LRPAP1 ENST00000500728 human ensembl 74_37 -1 known silent c.306 p.D102 0.001 pfam_MG_RAP_rcpt_1,superfamily_MG_RAP_rcpt_1 pfam_Alpha_2_MRAP_C,pfam_MG_RAP_rcpt_1,superfamily_MG_RAP_rcpt_1 - no_errors LRPAP1 HGNC ENSG00000163956 382 0 0 270 87 24.3697 KLF3 0 genome.wustl.edu 37 4 38682250 38682250 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 38682250 38682250 C A SNP KLF3 ENST00000261438 human ensembl 74_37 +1 known missense c.4 p.L2I 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF3 HGNC ENSG00000109787 272 0 0 234 23 8.94942 PDS5A 0 genome.wustl.edu 37 4 39929664 39929664 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 39929664 39929664 G A SNP PDS5A ENST00000303538 human ensembl 74_37 -1 known missense c.259 p.R87C 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5A HGNC ENSG00000121892 51 0 0 34 2 5.55556 RBM47 0 genome.wustl.edu 37 4 40438542 40438542 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 40438542 40438542 C T SNP RBM47 ENST00000295971 human ensembl 74_37 -1 known missense c.1246 p.G416R 1.000 tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors RBM47 HGNC ENSG00000163694 261 0 0 182 31 14.554 ZBTB49 0 genome.wustl.edu 37 4 4322409 4322409 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 4322409 4322409 G A SNP ZBTB49 ENST00000337872 human ensembl 74_37 +1 known missense c.1664 p.R555H 0.999 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB49 HGNC ENSG00000168826 85 0 0 56 5 8.19672 ZNF721 0 genome.wustl.edu 37 4 438000 438000 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 438000 438000 G A SNP ZNF721 ENST00000511833 human ensembl 74_37 -1 known missense c.256 p.R86C 0.010 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF721 HGNC ENSG00000182903 64 0 0 39 4 9.30233 CNGA1 0 genome.wustl.edu 37 4 47938530 47938530 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 47938530 47938530 T C SNP CNGA1 ENST00000402813 human ensembl 74_37 -1 known missense c.2188 p.K730E 0.898 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA1 HGNC ENSG00000198515 139 0 0 77 16 17.2043 SRD5A3-AS1 0 genome.wustl.edu 37 4 56230218 56230218 + RNA SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 56230218 56230218 C T SNP SRD5A3-AS1 ENST00000433175 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors SRD5A3-AS1 HGNC ENSG00000249700 202 0 0 124 26 17.3333 EXOC1 0 genome.wustl.edu 37 4 56726616 56726616 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 56726616 56726616 T C SNP EXOC1 ENST00000346134 human ensembl 74_37 +1 known missense c.164 p.V55A 1.000 NULL pfam_Exocyst_Exoc1/SEC3 - no_errors EXOC1 HGNC ENSG00000090989 128 0 0 79 12 13.1868 JAKMIP1 0 genome.wustl.edu 37 4 6107625 6107625 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 6107625 6107625 C T SNP JAKMIP1 ENST00000409021 human ensembl 74_37 -1 known missense c.199 p.A67T 1.000 NULL NULL - no_errors JAKMIP1 HGNC ENSG00000152969 69 0 0 49 18 26.8657 WFS1 0 genome.wustl.edu 37 4 6296830 6296830 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 6296830 6296830 A G SNP WFS1 ENST00000226760 human ensembl 74_37 +1 known missense c.775 p.I259V 1.000 NULL NULL - no_errors WFS1 HGNC ENSG00000109501 137 1 0.724638 86 18 17.3077 PPP2R2C 0 genome.wustl.edu 37 4 6380228 6380228 + Silent SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 6380228 6380228 A G SNP PPP2R2C ENST00000335585 human ensembl 74_37 -1 known silent c.240 p.F80 0.991 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2C HGNC ENSG00000074211 178 0 0 101 42 29.3706 TADA2B 0 genome.wustl.edu 37 4 7055912 7055912 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 7055912 7055912 G A SNP TADA2B ENST00000310074 human ensembl 74_37 +1 known missense c.394 p.V132M 1.000 pirsf_Transcriptional_adaptor_2 pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors TADA2B HGNC ENSG00000173011 19 0 0 15 6 28.5714 ACOX3 0 genome.wustl.edu 37 4 8390919 8390919 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 8390919 8390919 G A SNP ACOX3 ENST00000356406 human ensembl 74_37 -1 known silent c.1518 p.A506 0.088 superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_AcylCo_DH/oxidase_C,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase - no_errors ACOX3 HGNC ENSG00000087008 51 0 0 35 3 7.89474 WDFY3 0 genome.wustl.edu 37 4 85708634 85708634 + Splice_Site SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 85708634 85708634 C T SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known splice_site c.3901+1 e20+1 1.000 - - - no_errors WDFY3 HGNC ENSG00000163625 56 0 0 46 4 8 NAP1L5 0 genome.wustl.edu 37 4 89618768 89618768 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 89618768 89618768 G A SNP NAP1L5 ENST00000323061 human ensembl 74_37 -1 known silent c.138 p.S46 0.004 NULL pfam_NAP_family - no_errors NAP1L5 HGNC ENSG00000177432 157 0 0 116 9 7.2 MMRN1 0 genome.wustl.edu 37 4 90816212 90816212 + Silent SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 90816212 90816212 T C SNP MMRN1 ENST00000264790 human ensembl 74_37 +1 known silent c.90 p.P30 0.031 NULL pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MMRN1 HGNC ENSG00000138722 134 0 0 119 17 12.5 TSPAN5 0 genome.wustl.edu 37 4 99397420 99397420 + Missense_Mutation SNP A A C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 99397420 99397420 A C SNP TSPAN5 ENST00000305798 human ensembl 74_37 -1 known missense c.661 p.C221G 1.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN5 HGNC ENSG00000168785 97 0 0 76 8 9.52381 PAM 0 genome.wustl.edu 37 5 102285672 102285672 + Missense_Mutation SNP A A C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 102285672 102285672 A C SNP PAM ENST00000304400 human ensembl 74_37 +1 known missense c.791 p.Q264P 1.000 superfamily_PHM/PNGase_F_dom,prints_Pep_amidat_mOase pfam_NHL_repeat,pfam_Cu2_ascorb_mOase_N,superfamily_PHM/PNGase_F_dom,pfscan_NHL_repeat_subgr,prints_Pep_amidat_mOase - no_errors PAM HGNC ENSG00000145730 71 0 0 40 8 16.6667 CTNND2 0 genome.wustl.edu 37 5 11384809 11384809 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 11384809 11384809 G A SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known missense c.1145 p.T382M 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 27 0 0 29 7 19.4444 RAD50 0 genome.wustl.edu 37 5 131931471 131931471 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 131931471 131931471 C T SNP RAD50 ENST00000265335 human ensembl 74_37 +1 known missense c.2176 p.R726C 1.000 superfamily_P-loop_NTPase,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50_eukaryotes pfam_Rad50_Zn_hook,superfamily_P-loop_NTPase,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50_eukaryotes - no_errors RAD50 HGNC ENSG00000113522 103 0 0 62 21 25.3012 CLPTM1L 0 genome.wustl.edu 37 5 1339036 1339036 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 1339036 1339036 C T SNP CLPTM1L ENST00000320895 human ensembl 74_37 -1 known missense c.538 p.A180T 1.000 pfam_CLPTM1 pfam_CLPTM1 - no_errors CLPTM1L HGNC ENSG00000049656 136 0 0 73 18 19.7802 C5orf20 0 genome.wustl.edu 37 5 134782702 134782702 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 134782702 134782702 C T SNP C5orf20 ENST00000503143 human ensembl 74_37 -1 known missense c.97 p.E33K 0.002 NULL NULL - no_errors C5orf20 HGNC ENSG00000251380 27 0 0 15 3 16.6667 BRD8 0 genome.wustl.edu 37 5 137476521 137476521 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 137476521 137476521 C T SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.3488 p.R1163H 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 394 0 0 267 62 18.845 CDC25C 0 genome.wustl.edu 37 5 137661709 137661709 + Splice_Site SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 137661709 137661709 C T SNP CDC25C ENST00000323760 human ensembl 74_37 -1 known splice_site c.369+1 e4+1 1.000 - - - no_errors CDC25C HGNC ENSG00000158402 125 0 0 90 8 8.16327 EGR1 0 genome.wustl.edu 37 5 137802862 137802862 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 137802862 137802862 G A SNP EGR1 ENST00000239938 human ensembl 74_37 +1 known missense c.724 p.A242T 0.576 NULL pfam_DUF3432,pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR1 HGNC ENSG00000120738 131 0 0 83 18 17.8218 SLC4A9 0 genome.wustl.edu 37 5 139739839 139739839 + Silent SNP A A C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 139739839 139739839 A C SNP SLC4A9 ENST00000230993 human ensembl 74_37 +1 known silent c.18 p.P6 1.000 NULL pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A9 HGNC ENSG00000113073 43 0 0 23 5 17.8571 SLC4A9 0 genome.wustl.edu 37 5 139747338 139747338 + Missense_Mutation SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 139747338 139747338 G T SNP SLC4A9 ENST00000230993 human ensembl 74_37 +1 known missense c.2281 p.V761L 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A9 HGNC ENSG00000113073 55 0 0 50 5 9.09091 ANKHD1 0 genome.wustl.edu 37 5 139781730 139781730 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 139781730 139781730 G A SNP ANKHD1 ENST00000297183 human ensembl 74_37 +1 known missense c.178 p.G60S 0.994 NULL pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKHD1 HGNC ENSG00000131503 19 0 0 8 4 33.3333 PCDHA2 0 genome.wustl.edu 37 5 140174689 140174689 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 140174689 140174689 G A SNP PCDHA2 ENST00000526136 human ensembl 74_37 +1 known missense c.140 p.R47H 0.972 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA2 HGNC ENSG00000204969 160 1 0.621118 105 29 21.6418 PCDHA2 0 genome.wustl.edu 37 5 140176040 140176040 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 140176040 140176040 G A SNP PCDHA2 ENST00000526136 human ensembl 74_37 +1 known silent c.1491 p.R497 0.927 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 PCDHA2 HGNC ENSG00000204969 165 0 0 124 14 10.1449 PCDHA3 0 genome.wustl.edu 37 5 140182244 140182244 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 140182244 140182244 G A SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known missense c.1462 p.A488T 0.995 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 PCDHA3 HGNC ENSG00000255408 249 0 0 183 15 7.57576 PCDHA5 0 genome.wustl.edu 37 5 140203136 140203136 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 140203136 140203136 G A SNP PCDHA5 ENST00000529859 human ensembl 74_37 +1 known silent c.1776 p.K592 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA5 HGNC ENSG00000204965 142 0 0 79 31 28.1818 PCDHA6 0 genome.wustl.edu 37 5 140208845 140208845 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 140208845 140208845 C T SNP PCDHA6 ENST00000529310 human ensembl 74_37 +1 known missense c.1169 p.T390M 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 PCDHA6 HGNC ENSG00000081842 311 0 0 188 56 22.9508 PCDHA8 0 genome.wustl.edu 37 5 140223022 140223022 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 140223022 140223022 G A SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known missense c.2116 p.A706T 0.831 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 147 0 0 93 24 20.5128 PCDHA10 0 genome.wustl.edu 37 5 140237301 140237301 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 140237301 140237301 C T SNP PCDHA10 ENST00000307360 human ensembl 74_37 +1 known silent c.1668 p.D556 0.921 superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA10 HGNC ENSG00000250120 143 0 0 95 16 14.4144 PCDHA13 0 genome.wustl.edu 37 5 140263462 140263462 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 140263462 140263462 G A SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known missense c.1609 p.A537T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 255 0 0 188 33 14.9321 PCDHA13 0 genome.wustl.edu 37 5 140263782 140263782 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 140263782 140263782 G A SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known silent c.1929 p.P643 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 PCDHA13 HGNC ENSG00000239389 128 0 0 98 19 16.2393 PCDHB3 0 genome.wustl.edu 37 5 140481823 140481823 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 140481823 140481823 C T SNP PCDHB3 ENST00000231130 human ensembl 74_37 +1 known silent c.1590 p.R530 0.415 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB3 HGNC ENSG00000113205 160 0 0 119 11 8.46154 PCDHB6 0 genome.wustl.edu 37 5 140530412 140530412 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 140530412 140530412 G A SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known missense c.574 p.E192K 0.964 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 PCDHB6 HGNC ENSG00000113211 188 0 0 154 30 16.3043 PCDHB6 0 genome.wustl.edu 37 5 140531180 140531180 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 140531180 140531180 G A SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known missense c.1342 p.A448T 0.000 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 233 1 0.42735 186 48 20.5128 PCDHB8 0 genome.wustl.edu 37 5 140559448 140559448 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 140559448 140559448 G A SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known silent c.1833 p.T611 0.247 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 PCDHB8 HGNC ENSG00000120322 83 0 0 77 14 15.3846 PCDHB15 0 genome.wustl.edu 37 5 140627020 140627020 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 140627020 140627020 G A SNP PCDHB15 ENST00000231173 human ensembl 74_37 +1 known missense c.1874 p.R625H 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB15 HGNC ENSG00000113248 125 0 0 94 6 6 PCDHGA1 0 genome.wustl.edu 37 5 140712198 140712198 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 140712198 140712198 C T SNP PCDHGA1 ENST00000517417 human ensembl 74_37 +1 known silent c.1947 p.H649 0.978 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 PCDHGA1 HGNC ENSG00000204956 147 0 0 85 24 22.0183 PCDHGA1 0 genome.wustl.edu 37 5 140712241 140712241 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 140712241 140712241 G A SNP PCDHGA1 ENST00000517417 human ensembl 74_37 +1 known missense c.1990 p.V664M 0.259 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 PCDHGA1 HGNC ENSG00000204956 158 0 0 80 20 20 PCDHGA2 0 genome.wustl.edu 37 5 140719675 140719675 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 140719675 140719675 C T SNP PCDHGA2 ENST00000394576 human ensembl 74_37 +1 known silent c.1137 p.N379 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 138 0 0 78 29 27.1028 PCDHGB2 0 genome.wustl.edu 37 5 140739737 140739737 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 140739737 140739737 G A SNP PCDHGB2 ENST00000522605 human ensembl 74_37 +1 known missense c.35 p.R12Q 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB2 HGNC ENSG00000253910 21 0 0 18 6 25 PCDHGB3 0 genome.wustl.edu 37 5 140751770 140751770 + Nonsense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 140751770 140751770 G A SNP PCDHGB3 ENST00000576222 human ensembl 74_37 +1 known nonsense c.1809 p.W603* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB3 HGNC ENSG00000262209 153 0 0 100 19 15.9664 PCDHGA7 0 genome.wustl.edu 37 5 140763761 140763761 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 140763761 140763761 T C SNP PCDHGA7 ENST00000518325 human ensembl 74_37 +1 known missense c.1295 p.L432S 0.944 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 PCDHGA7 HGNC ENSG00000253537 53 0 0 39 6 13.3333 PCDHGA7 0 genome.wustl.edu 37 5 140764588 140764588 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 140764588 140764588 G A SNP PCDHGA7 ENST00000518325 human ensembl 74_37 +1 known missense c.2122 p.V708I 0.840 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA7 HGNC ENSG00000253537 114 0 0 60 22 26.8293 PCDHGB4 0 genome.wustl.edu 37 5 140769384 140769384 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 140769384 140769384 C T SNP PCDHGB4 ENST00000519479 human ensembl 74_37 +1 known missense c.1933 p.R645C 0.992 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 PCDHGB4 HGNC ENSG00000253953 95 0 0 53 13 19.697 SPRY4 0 genome.wustl.edu 37 5 141694677 141694677 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 141694677 141694677 G A SNP SPRY4 ENST00000344120 human ensembl 74_37 -1 known silent c.66 p.S22 0.993 NULL pfam_Sprouty - no_errors SPRY4 HGNC ENSG00000187678 68 0 0 37 5 11.9048 JAKMIP2 0 genome.wustl.edu 37 5 147024421 147024421 + Missense_Mutation SNP A A T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 147024421 147024421 A T SNP JAKMIP2 ENST00000265272 human ensembl 74_37 -1 known missense c.1075 p.S359T 0.656 NULL NULL - no_errors JAKMIP2 HGNC ENSG00000176049 147 0 0 110 18 14.0625 FBXO38 0 genome.wustl.edu 37 5 147781951 147781951 + Nonsense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 147781951 147781951 G A SNP FBXO38 ENST00000340253 human ensembl 74_37 +1 known nonsense c.467 p.W156* 1.000 NULL superfamily_F-box_dom - no_errors FBXO38 HGNC ENSG00000145868 107 0 0 83 16 16.1616 FBXO38 0 genome.wustl.edu 37 5 147807059 147807059 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 147807059 147807059 C T SNP FBXO38 ENST00000340253 human ensembl 74_37 +1 known silent c.2202 p.G734 1.000 NULL superfamily_F-box_dom - no_errors FBXO38 HGNC ENSG00000145868 99 0 0 69 10 12.6582 TNIP1 0 genome.wustl.edu 37 5 150436492 150436492 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 150436492 150436492 G A SNP TNIP1 ENST00000315050 human ensembl 74_37 -1 known silent c.462 p.D154 0.998 NULL superfamily_ARM-type_fold - no_errors TNIP1 HGNC ENSG00000145901 57 0 0 34 6 15 GRIA1 0 genome.wustl.edu 37 5 153078486 153078486 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 153078486 153078486 C T SNP GRIA1 ENST00000448073 human ensembl 74_37 +1 known silent c.1335 p.Y445 0.504 pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd 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 138 0 0 72 22 23.4043 CYFIP2 0 genome.wustl.edu 37 5 156816266 156816266 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 156816266 156816266 G A SNP CYFIP2 ENST00000318218 human ensembl 74_37 +1 known missense c.3352 p.E1118K 1.000 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP2 HGNC ENSG00000055163 85 0 0 68 15 18.0723 ADAM19 0 genome.wustl.edu 37 5 156915311 156915311 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 156915311 156915311 G A SNP ADAM19 ENST00000394020 human ensembl 74_37 -1 known missense c.2518 p.R840W 1.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM19 HGNC ENSG00000135074 253 0 0 156 55 26.0664 ATP10B 0 genome.wustl.edu 37 5 160042879 160042879 + Silent SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 160042879 160042879 A G SNP ATP10B ENST00000327245 human ensembl 74_37 -1 known silent c.2619 p.T873 0.055 pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10B HGNC ENSG00000118322 147 0 0 80 23 22.3301 GABRA6 0 genome.wustl.edu 37 5 161112944 161112944 + RNA SNP G G C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 161112944 161112944 G C SNP GABRA6 ENST00000518888 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GABRA6 HGNC ENSG00000145863 81 0 0 60 15 20 TENM2 0 genome.wustl.edu 37 5 167420177 167420177 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 167420177 167420177 G A SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known silent c.1176 p.A392 0.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 77 0 0 50 9 15.2542 FBXW11 0 genome.wustl.edu 37 5 171305054 171305054 + Missense_Mutation SNP T T A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 171305054 171305054 T A SNP FBXW11 ENST00000265094 human ensembl 74_37 -1 known missense c.869 p.E290V 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW11 HGNC ENSG00000072803 66 0 0 45 14 23.7288 CPEB4 0 genome.wustl.edu 37 5 173378931 173378931 + Silent SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 173378931 173378931 A G SNP CPEB4 ENST00000265085 human ensembl 74_37 +1 known silent c.1770 p.P590 0.881 smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB4 HGNC ENSG00000113742 69 0 0 44 5 10.2041 N4BP3 0 genome.wustl.edu 37 5 177546741 177546741 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 177546741 177546741 C T SNP N4BP3 ENST00000274605 human ensembl 74_37 +1 known missense c.157 p.R53C 1.000 NULL NULL - no_errors N4BP3 HGNC ENSG00000145911 175 1 0.568182 129 19 12.8378 ZNF354C 0 genome.wustl.edu 37 5 178505905 178505905 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 178505905 178505905 G A SNP ZNF354C ENST00000315475 human ensembl 74_37 +1 known missense c.472 p.G158R 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF354C HGNC ENSG00000177932 102 0 0 71 16 18.3908 TBC1D9B 0 genome.wustl.edu 37 5 179306124 179306124 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 179306124 179306124 C T SNP TBC1D9B ENST00000356834 human ensembl 74_37 -1 known missense c.1490 p.R497H 1.000 superfamily_Rab-GTPase-TBC_dom 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 TBC1D9B HGNC ENSG00000197226 38 0 0 22 2 8.33333 GFPT2 0 genome.wustl.edu 37 5 179739447 179739447 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 179739447 179739447 C A SNP GFPT2 ENST00000253778 human ensembl 74_37 -1 known missense c.1529 p.G510V 1.000 tigrfam_GlmS_trans pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT2 HGNC ENSG00000131459 75 0 0 51 13 20.3125 NDUFS6 0 genome.wustl.edu 37 5 1814469 1814469 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 1814469 1814469 C T SNP NDUFS6 ENST00000274137 human ensembl 74_37 +1 known missense c.203 p.A68V 1.000 pirsf_NADH_Ub_cplx-1_Fe-S_6_mit pfam_Znf_CHCC,pirsf_NADH_Ub_cplx-1_Fe-S_6_mit - no_errors NDUFS6 HGNC ENSG00000145494 149 0 0 101 7 6.48148 IRX2 0 genome.wustl.edu 37 5 2748668 2748668 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 2748668 2748668 G A SNP IRX2 ENST00000302057 human ensembl 74_37 -1 known missense c.1154 p.T385M 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX2 HGNC ENSG00000170561 87 0 0 55 11 16.6667 IRX2 0 genome.wustl.edu 37 5 2752884 2752884 + RNA SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 2752884 2752884 C T SNP IRX2 ENST00000502957 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors IRX2 HGNC ENSG00000170561 105 0 0 68 17 20 ADAMTS12 0 genome.wustl.edu 37 5 33624406 33624406 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 33624406 33624406 G A SNP ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known silent c.2073 p.C691 0.641 prints_Peptidase_M12B_ADAM-TS pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 83 0 0 35 13 27.0833 SLC45A2 0 genome.wustl.edu 37 5 33947392 33947392 + Missense_Mutation SNP A A C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 33947392 33947392 A C SNP SLC45A2 ENST00000296589 human ensembl 74_37 -1 known missense c.1244 p.I415S 0.999 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A2 HGNC ENSG00000164175 220 0 0 139 31 18.2353 NIPBL 0 genome.wustl.edu 37 5 37022491 37022491 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 37022491 37022491 T C SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known missense c.5573 p.L1858S 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 37 0 0 25 6 19.3548 DAB2 0 genome.wustl.edu 37 5 39383287 39383287 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 39383287 39383287 G A SNP DAB2 ENST00000320816 human ensembl 74_37 -1 known silent c.774 p.N258 0.999 NULL pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors DAB2 HGNC ENSG00000153071 136 0 0 115 9 7.25806 PRKAA1 0 genome.wustl.edu 37 5 40767586 40767586 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 40767586 40767586 G A SNP PRKAA1 ENST00000354209 human ensembl 74_37 -1 known missense c.848 p.A283V 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PRKAA1 HGNC ENSG00000132356 73 0 0 49 15 23.4375 SLC9A3 0 genome.wustl.edu 37 5 483524 483524 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 483524 483524 G A SNP SLC9A3 ENST00000264938 human ensembl 74_37 -1 known missense c.1006 p.R336C 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,superfamily_Reg_factor_effector_dom,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A3 HGNC ENSG00000066230 20 0 0 6 5 45.4545 DHX29 0 genome.wustl.edu 37 5 54552344 54552344 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 54552344 54552344 G A SNP DHX29 ENST00000251636 human ensembl 74_37 -1 known missense c.4082 p.T1361M 0.996 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX29 HGNC ENSG00000067248 67 0 0 44 10 18.5185 IL6ST 0 genome.wustl.edu 37 5 55236979 55236979 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 55236979 55236979 C T SNP IL6ST ENST00000336909 human ensembl 74_37 -1 known silent c.2688 p.A896 0.000 NULL pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL6ST HGNC ENSG00000134352 119 0 0 85 24 22.0183 HTR1A 0 genome.wustl.edu 37 5 63256583 63256583 + Nonsense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 63256583 63256583 C A SNP HTR1A ENST00000323865 human ensembl 74_37 -1 known nonsense c.964 p.E322* 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt - no_errors HTR1A HGNC ENSG00000178394 102 0 0 65 10 13.3333 MAST4 0 genome.wustl.edu 37 5 66459451 66459451 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 66459451 66459451 C T SNP MAST4 ENST00000404260 human ensembl 74_37 +1 known missense c.4453 p.R1485W 0.127 NULL 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 MAST4 HGNC ENSG00000069020 20 0 0 14 2 12.5 PIK3R1 0 genome.wustl.edu 37 5 67591106 67591106 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 67591106 67591106 A G SNP PIK3R1 ENST00000396611 human ensembl 74_37 +1 known missense c.1699 p.K567E 1.000 prints_PI3kinase_P85 pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC ENSG00000145675 124 0 0 82 12 12.766 SV2C 0 genome.wustl.edu 37 5 75428050 75428050 + Missense_Mutation SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 75428050 75428050 G T SNP SV2C ENST00000502798 human ensembl 74_37 +1 known missense c.475 p.G159C 1.000 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2C HGNC ENSG00000122012 157 0 0 113 15 11.7188 CMYA5 0 genome.wustl.edu 37 5 79025669 79025669 + Nonsense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 79025669 79025669 C T SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known nonsense c.1081 p.Q361* 0.001 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 23 0 0 12 3 20 THBS4 0 genome.wustl.edu 37 5 79366538 79366538 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 79366538 79366538 G A SNP THBS4 ENST00000350881 human ensembl 74_37 +1 known missense c.1525 p.E509K 0.959 pfam_Thrombospondin_3-like_rpt pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors THBS4 HGNC ENSG00000113296 148 0 0 69 26 27.3684 BRD9 0 genome.wustl.edu 37 5 865542 865542 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 865542 865542 G A SNP BRD9 ENST00000467963 human ensembl 74_37 -1 known silent c.1680 p.D560 0.968 NULL pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD9 HGNC ENSG00000028310 121 1 0.819672 79 17 17.7083 CETN3 0 genome.wustl.edu 37 5 89703524 89703524 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 89703524 89703524 C T SNP CETN3 ENST00000283122 human ensembl 74_37 -1 known missense c.145 p.E49K 1.000 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CETN3 HGNC ENSG00000153140 38 0 0 25 2 7.40741 GPR98 0 genome.wustl.edu 37 5 90159637 90159637 + Missense_Mutation SNP T T G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 90159637 90159637 T G SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.17819 p.L5940R 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 129 0 0 109 28 20.438 SEMA5A 0 genome.wustl.edu 37 5 9224864 9224864 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 9224864 9224864 G A SNP SEMA5A ENST00000382496 human ensembl 74_37 -1 known missense c.568 p.R190C 0.020 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 68 0 0 40 4 9.09091 TTC37 0 genome.wustl.edu 37 5 94852270 94852270 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 94852270 94852270 C T SNP TTC37 ENST00000358746 human ensembl 74_37 -1 known missense c.2536 p.A846T 1.000 pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC37 HGNC ENSG00000198677 68 0 0 66 12 15.3846 ERAP1 0 genome.wustl.edu 37 5 96130807 96130807 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 96130807 96130807 G A SNP ERAP1 ENST00000296754 human ensembl 74_37 -1 known missense c.857 p.A286V 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ERAP1 HGNC ENSG00000164307 47 0 0 37 5 11.9048 ELOVL2 0 genome.wustl.edu 37 6 10990047 10990047 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 10990047 10990047 C T SNP ELOVL2 ENST00000354666 human ensembl 74_37 -1 known silent c.654 p.T218 0.005 pfam_GNS1_SUR4 pfam_GNS1_SUR4 - no_errors ELOVL2 HGNC ENSG00000197977 115 0 0 86 9 9.47368 FIG4 0 genome.wustl.edu 37 6 110146440 110146440 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 110146440 110146440 G A SNP FIG4 ENST00000230124 human ensembl 74_37 +1 known missense c.2696 p.R899Q 1.000 NULL pfam_Syja_N,pfscan_Syja_N - no_errors FIG4 HGNC ENSG00000112367 103 0 0 71 6 7.79221 SLC22A16 0 genome.wustl.edu 37 6 110752462 110752462 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 110752462 110752462 A G SNP SLC22A16 ENST00000368919 human ensembl 74_37 -1 known missense c.1433 p.V478A 0.999 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A16 HGNC ENSG00000004809 85 0 0 58 28 32.5581 REV3L 0 genome.wustl.edu 37 6 111650820 111650820 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 111650820 111650820 G A SNP REV3L ENST00000358835 human ensembl 74_37 -1 known missense c.8156 p.A2719V 1.000 pfam_DNA-dir_DNA_pol_B_multi_dom,smart_DNA-dir_DNA_pol_B pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 193 0 0 142 30 17.4419 FAM26E 0 genome.wustl.edu 37 6 116836936 116836936 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 116836936 116836936 C T SNP FAM26E ENST00000368599 human ensembl 74_37 +1 known silent c.714 p.S238 0.825 NULL NULL - no_errors FAM26E HGNC ENSG00000178033 154 0 0 79 21 21 RWDD1 0 genome.wustl.edu 37 6 116912077 116912077 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 116912077 116912077 A G SNP RWDD1 ENST00000466444 human ensembl 74_37 +1 known missense c.574 p.N192D 1.000 NULL pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain - no_errors RWDD1 HGNC ENSG00000111832 53 0 0 43 4 8.51064 KPNA5 0 genome.wustl.edu 37 6 117023264 117023264 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 117023264 117023264 C T SNP KPNA5 ENST00000356348 human ensembl 74_37 +1 known missense c.518 p.P173L 1.000 pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA5 HGNC ENSG00000196911 125 0 0 76 19 20 SOGA3 0 genome.wustl.edu 37 6 127796917 127796917 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 127796917 127796917 C T SNP SOGA3 ENST00000368268 human ensembl 74_37 -1 known missense c.2254 p.D752N 1.000 NULL pfam_SOGA - no_errors SOGA3 HGNC ENSG00000214338 141 1 0.704225 132 12 8.33333 TAAR2 0 genome.wustl.edu 37 6 132938520 132938520 + Nonsense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 132938520 132938520 C T SNP TAAR2 ENST00000367931 human ensembl 74_37 -1 known nonsense c.825 p.W275* 1.000 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_GPCR_Rhodpsn,prints_TAAR_fam - no_errors TAAR2 HGNC ENSG00000146378 51 0 0 29 7 19.4444 TAAR2 0 genome.wustl.edu 37 6 132938576 132938576 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 132938576 132938576 C T SNP TAAR2 ENST00000367931 human ensembl 74_37 -1 known missense c.769 p.D257N 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_GPCR_Rhodpsn,prints_TAAR_fam - no_errors TAAR2 HGNC ENSG00000146378 80 0 0 36 13 26.5306 EYA4 0 genome.wustl.edu 37 6 133849878 133849878 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 133849878 133849878 T C SNP EYA4 ENST00000355167 human ensembl 74_37 +1 known missense c.1855 p.W619R 1.000 superfamily_HAD-like_dom,tigrfam_EYA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA4 HGNC ENSG00000112319 258 0 0 205 27 11.6379 TNFAIP3 0 genome.wustl.edu 37 6 138200310 138200310 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 138200310 138200310 G A SNP TNFAIP3 ENST00000237289 human ensembl 74_37 +1 known silent c.1728 p.P576 0.000 NULL pfam_Znf_A20,pfam_OTU,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors TNFAIP3 HGNC ENSG00000118503 122 0 0 109 9 7.62712 HIVEP2 0 genome.wustl.edu 37 6 143091172 143091172 + Silent SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 143091172 143091172 T C SNP HIVEP2 ENST00000012134 human ensembl 74_37 -1 known silent c.4704 p.E1568 0.957 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 170 0 0 115 26 18.4397 HIVEP2 0 genome.wustl.edu 37 6 143091178 143091178 + Silent SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 143091178 143091178 T C SNP HIVEP2 ENST00000012134 human ensembl 74_37 -1 known silent c.4698 p.S1566 0.037 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 169 0 0 123 14 10.219 RAET1E 0 genome.wustl.edu 37 6 150210638 150210638 + Silent SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 150210638 150210638 G T SNP RAET1E ENST00000357183 human ensembl 74_37 -1 known silent c.468 p.T156 0.001 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors RAET1E HGNC ENSG00000164520 144 0 0 124 21 14.4828 PLEKHG1 0 genome.wustl.edu 37 6 151153326 151153326 + Nonsense_Mutation SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 151153326 151153326 G T SNP PLEKHG1 ENST00000358517 human ensembl 74_37 +1 known nonsense c.3079 p.G1027* 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG1 HGNC ENSG00000120278 130 0 0 91 26 22.2222 AKAP12 0 genome.wustl.edu 37 6 151669964 151669964 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 151669964 151669964 C T SNP AKAP12 ENST00000253332 human ensembl 74_37 +1 known silent c.438 p.I146 0.000 NULL pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC ENSG00000131016 107 0 0 77 22 22.2222 SYNE1 0 genome.wustl.edu 37 6 152540258 152540258 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 152540258 152540258 C T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.21924 p.E7308 0.996 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 109 0 0 79 15 15.9574 RGS17 0 genome.wustl.edu 37 6 153347651 153347651 + Silent SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 153347651 153347651 C A SNP RGS17 ENST00000206262 human ensembl 74_37 -1 known silent c.147 p.G49 0.983 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS17 HGNC ENSG00000091844 149 0 0 91 24 20.8696 OPRM1 0 genome.wustl.edu 37 6 154412320 154412320 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 154412320 154412320 G A SNP OPRM1 ENST00000434900 human ensembl 74_37 +1 known missense c.1156 p.V386I 0.914 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Neuropept_B/W_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mu_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt - no_errors OPRM1 HGNC ENSG00000112038 97 0 0 80 13 13.9785 CNKSR3 0 genome.wustl.edu 37 6 154771281 154771281 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 154771281 154771281 C T SNP CNKSR3 ENST00000607772 human ensembl 74_37 -1 known missense c.164 p.R55Q 0.988 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,pfscan_PDZ,pfscan_SAM - no_errors CNKSR3 HGNC ENSG00000153721 121 0 0 91 9 9 TIAM2 0 genome.wustl.edu 37 6 155561732 155561732 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 155561732 155561732 G A SNP TIAM2 ENST00000456144 human ensembl 74_37 +1 known silent c.3237 p.P1079 0.000 superfamily_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM2 HGNC ENSG00000146426 122 0 0 72 13 15.2941 SYNJ2 0 genome.wustl.edu 37 6 158497676 158497676 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 158497676 158497676 G A SNP SYNJ2 ENST00000355585 human ensembl 74_37 +1 known missense c.2311 p.E771K 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 108 0 0 74 5 6.32911 KIF25 0 genome.wustl.edu 37 6 168439243 168439243 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 168439243 168439243 G A SNP KIF25 ENST00000354419 human ensembl 74_37 +1 known missense c.328 p.E110K 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF25 HGNC ENSG00000125337 98 0 0 75 4 5.06329 FAM120B 0 genome.wustl.edu 37 6 170632250 170632250 + Silent SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 170632250 170632250 C A SNP FAM120B ENST00000537664 human ensembl 74_37 +1 known silent c.1887 p.T629 0.004 NULL NULL - no_errors FAM120B HGNC ENSG00000112584 89 0 0 54 19 26.0274 ZNF391 0 genome.wustl.edu 37 6 27368577 27368577 + Missense_Mutation SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 27368577 27368577 G T SNP ZNF391 ENST00000244576 human ensembl 74_37 +1 known missense c.428 p.G143V 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF391 HGNC ENSG00000124613 138 0 0 112 13 10.4 WRNIP1 0 genome.wustl.edu 37 6 2783645 2783645 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 2783645 2783645 G A SNP WRNIP1 ENST00000380773 human ensembl 74_37 +1 known missense c.1492 p.E498K 1.000 NULL pfam_MgsA_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_DUF815,pfam_IstB_ATP-bd,pfam_ATPase_AAA-2,superfamily_P-loop_NTPase,smart_Znf_Rad18_put,smart_AAA+_ATPase - no_errors WRNIP1 HGNC ENSG00000124535 46 0 0 24 9 27.2727 ZNF165 0 genome.wustl.edu 37 6 28053571 28053571 + Silent SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 28053571 28053571 T C SNP ZNF165 ENST00000377325 human ensembl 74_37 +1 known silent c.313 p.L105 0.193 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF165 HGNC ENSG00000197279 94 0 0 46 9 16.3636 OR2J1 0 genome.wustl.edu 37 6 29069544 29069544 + Silent SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 29069544 29069544 T C SNP OR2J1 ENST00000377171 human ensembl 74_37 +1 known silent c.825 p.I275 0.634 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2J1 HGNC ENSG00000204702 118 0 0 73 18 19.7802 GABBR1 0 genome.wustl.edu 37 6 29595419 29595419 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 29595419 29595419 C T SNP GABBR1 ENST00000377034 human ensembl 74_37 -1 known silent c.501 p.R167 1.000 superfamily_Peripla_BP_I,prints_GPCR_3_GABA_rcpt_B1 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Sushi_SCR_CCP,superfamily_Peripla_BP_I,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,pfscan_Sushi_SCR_CCP,pfscan_GPCR_3_C - no_errors GABBR1 HGNC ENSG00000204681 10 0 0 4 3 42.8571 TRIM10 0 genome.wustl.edu 37 6 30122079 30122079 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 30122079 30122079 T C SNP TRIM10 ENST00000449742 human ensembl 74_37 -1 known missense c.1113 p.I371M 0.052 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin 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 TRIM10 HGNC ENSG00000204613 50 0 0 38 3 7.31707 TRIM39 0 genome.wustl.edu 37 6 30309680 30309680 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 30309680 30309680 G A SNP TRIM39 ENST00000376656 human ensembl 74_37 +1 known missense c.1201 p.D401N 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,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 TRIM39 HGNC ENSG00000204599 72 0 0 50 10 16.6667 MDC1 0 genome.wustl.edu 37 6 30672977 30672977 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 30672977 30672977 G A SNP MDC1 ENST00000376406 human ensembl 74_37 -1 known missense c.3983 p.T1328I 0.000 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 399 1 0.25 243 52 17.6271 DDR1 0 genome.wustl.edu 37 6 30861185 30861185 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 30861185 30861185 C T SNP DDR1 ENST00000376575 human ensembl 74_37 +1 known silent c.1332 p.R444 0.222 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR1 HGNC ENSG00000204580 30 0 0 18 5 21.7391 CDSN 0 genome.wustl.edu 37 6 31084004 31084004 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 31084004 31084004 G A SNP CDSN ENST00000376288 human ensembl 74_37 -1 known missense c.1388 p.S463F 0.680 NULL NULL - no_errors CDSN HGNC ENSG00000204539 73 0 0 38 17 30.9091 NFKBIL1 0 genome.wustl.edu 37 6 31525862 31525862 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 31525862 31525862 G A SNP NFKBIL1 ENST00000376148 human ensembl 74_37 +1 known missense c.620 p.R207Q 0.945 NULL superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors NFKBIL1 HGNC ENSG00000204498 44 0 0 18 9 33.3333 PRRC2A 0 genome.wustl.edu 37 6 31595588 31595588 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 31595588 31595588 A G SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known missense c.1337 p.D446G 1.000 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 91 0 0 67 17 20.2381 HSPA1L 0 genome.wustl.edu 37 6 31778571 31778571 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 31778571 31778571 C T SNP HSPA1L ENST00000375654 human ensembl 74_37 -1 known silent c.1179 p.L393 1.000 pfam_Hsp_70_fam,prints_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA1L HGNC ENSG00000204390 125 0 0 72 18 20 FKBPL 0 genome.wustl.edu 37 6 32096525 32096525 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 32096525 32096525 G A SNP FKBPL ENST00000375156 human ensembl 74_37 -1 known missense c.1033 p.R345C 0.985 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors FKBPL HGNC ENSG00000204315 409 0 0 305 53 14.8045 COL11A2 0 genome.wustl.edu 37 6 33157112 33157112 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 33157112 33157112 G A SNP COL11A2 ENST00000341947 human ensembl 74_37 -1 known missense c.217 p.R73C 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G 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 COL11A2 HGNC ENSG00000204248 86 0 0 44 18 29.0323 DAXX 0 genome.wustl.edu 37 6 33287900 33287900 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 33287900 33287900 C T SNP DAXX ENST00000266000 human ensembl 74_37 -1 known silent c.1353 p.E451 0.044 pfam_Daxx pfam_Daxx - no_errors DAXX HGNC ENSG00000204209 62 0 0 38 11 22.449 SYNGAP1 0 genome.wustl.edu 37 6 33391326 33391326 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 33391326 33391326 G A SNP SYNGAP1 ENST00000418600 human ensembl 74_37 +1 known missense c.140 p.R47Q 1.000 smart_Pleckstrin_homology pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors SYNGAP1 HGNC ENSG00000197283 175 0 0 106 29 21.4815 UHRF1BP1 0 genome.wustl.edu 37 6 34824084 34824084 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 34824084 34824084 C T SNP UHRF1BP1 ENST00000192788 human ensembl 74_37 +1 known silent c.1189 p.L397 1.000 NULL NULL - no_errors UHRF1BP1 HGNC ENSG00000065060 226 0 0 181 13 6.70103 FGD2 0 genome.wustl.edu 37 6 36995778 36995778 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 36995778 36995778 C T SNP FGD2 ENST00000274963 human ensembl 74_37 +1 known missense c.1807 p.P603S 0.644 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Znf_FYVE,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD2 HGNC ENSG00000146192 77 0 0 36 11 23.4043 CUL7 0 genome.wustl.edu 37 6 43019075 43019075 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 43019075 43019075 C A SNP CUL7 ENST00000535468 human ensembl 74_37 -1 known missense c.1116 p.E372D 0.033 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC ENSG00000044090 90 0 0 49 20 28.9855 CUL9 0 genome.wustl.edu 37 6 43152294 43152294 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 43152294 43152294 G A SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known silent c.246 p.E82 0.915 NULL 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 190 0 0 128 23 15.2318 TJAP1 0 genome.wustl.edu 37 6 43472983 43472983 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 43472983 43472983 G A SNP TJAP1 ENST00000372445 human ensembl 74_37 +1 known missense c.1064 p.R355H 1.000 NULL NULL - no_errors TJAP1 HGNC ENSG00000137221 105 0 0 61 23 27.381 POLH 0 genome.wustl.edu 37 6 43565480 43565480 + Missense_Mutation SNP A A T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 43565480 43565480 A T SNP POLH ENST00000372236 human ensembl 74_37 +1 known missense c.538 p.I180F 0.000 pfam_DNA_repair_prot_UmuC-like,pirsf_DNA_pol_eta,pfscan_DNA_repair_prot_UmuC-like_N pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,superfamily_DNA_pol_Y-fam_little_finger,pirsf_DNA_pol_eta,pfscan_DNA_repair_prot_UmuC-like_N - no_errors POLH HGNC ENSG00000170734 101 0 0 69 19 21.5909 TDRD6 0 genome.wustl.edu 37 6 46658575 46658575 + Nonsense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 46658575 46658575 C T SNP TDRD6 ENST00000316081 human ensembl 74_37 +1 known nonsense c.2710 p.Q904* 0.016 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 138 0 0 80 21 20.7921 RHAG 0 genome.wustl.edu 37 6 49574918 49574918 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 49574918 49574918 C A SNP RHAG ENST00000371175 human ensembl 74_37 -1 known missense c.1083 p.Q361H 1.000 pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHAG HGNC ENSG00000112077 45 0 0 34 4 10.5263 TFAP2B 0 genome.wustl.edu 37 6 50807909 50807909 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 50807909 50807909 C T SNP TFAP2B ENST00000263046 human ensembl 74_37 +1 known silent c.1008 p.C336 0.493 pfam_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_beta,prints_TF_AP2_C - no_errors TFAP2B HGNC ENSG00000008196 237 0 0 156 30 16.129 EFHC1 0 genome.wustl.edu 37 6 52329708 52329708 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 52329708 52329708 G A SNP EFHC1 ENST00000371068 human ensembl 74_37 +1 known missense c.932 p.C311Y 1.000 smart_Uncharacterised_DM10 pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_hand_dom - no_errors EFHC1 HGNC ENSG00000096093 65 0 0 49 7 12.5 BAI3 0 genome.wustl.edu 37 6 69666043 69666043 + Missense_Mutation SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 69666043 69666043 G T SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.1323 p.W441C 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 52 0 0 42 3 6.66667 KCNQ5 0 genome.wustl.edu 37 6 73843172 73843172 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 73843172 73843172 C T SNP KCNQ5 ENST00000402622 human ensembl 74_37 +1 known missense c.1306 p.R436C 1.000 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 88 0 0 77 16 17.2043 DSP 0 genome.wustl.edu 37 6 7565702 7565702 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 7565702 7565702 C T SNP DSP ENST00000379802 human ensembl 74_37 +1 known silent c.888 p.Y296 0.983 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 101 0 0 67 19 22.093 DSP 0 genome.wustl.edu 37 6 7569492 7569492 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 7569492 7569492 C T SNP DSP ENST00000379802 human ensembl 74_37 +1 known missense c.1493 p.P498L 1.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 147 0 0 73 33 31.1321 COL12A1 0 genome.wustl.edu 37 6 75812406 75812406 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 75812406 75812406 C T SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known silent c.8322 p.G2774 0.999 pfam_Collagen pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 59 0 0 42 11 20.7547 COL12A1 0 genome.wustl.edu 37 6 75828810 75828810 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 75828810 75828810 C T SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.7303 p.G2435S 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 106 0 0 84 17 16.8317 COL12A1 0 genome.wustl.edu 37 6 75841699 75841699 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 75841699 75841699 C T SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.5894 p.R1965H 0.878 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 89 0 0 54 22 28.9474 FILIP1 0 genome.wustl.edu 37 6 76024548 76024548 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 76024548 76024548 T C SNP FILIP1 ENST00000237172 human ensembl 74_37 -1 known missense c.1000 p.K334E 1.000 NULL pfam_Cortactin-binding_p2_N,prints_Tropomyosin - no_errors FILIP1 HGNC ENSG00000118407 169 0 0 104 19 15.4472 HTR1B 0 genome.wustl.edu 37 6 78172722 78172722 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 78172722 78172722 G A SNP HTR1B ENST00000369947 human ensembl 74_37 -1 known silent c.399 p.C133 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,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_5HT1B_rcpt,prints_5HT_rcpt,prints_ADR_fam - no_errors HTR1B HGNC ENSG00000135312 104 0 0 90 6 6.25 IRAK1BP1 0 genome.wustl.edu 37 6 79607819 79607819 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 79607819 79607819 G A SNP IRAK1BP1 ENST00000369940 human ensembl 74_37 +1 known missense c.551 p.R184H 0.967 pfam_DUF541 pfam_DUF541 - no_errors IRAK1BP1 HGNC ENSG00000146243 106 0 0 64 6 8.57143 PRSS35 0 genome.wustl.edu 37 6 84233542 84233542 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 84233542 84233542 G A SNP PRSS35 ENST00000369700 human ensembl 74_37 +1 known missense c.382 p.D128N 1.000 superfamily_Trypsin-like_Pept_dom pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom - no_errors PRSS35 HGNC ENSG00000146250 138 0 0 113 7 5.83333 TBX18 0 genome.wustl.edu 37 6 85446891 85446891 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 85446891 85446891 C T SNP TBX18 ENST00000369663 human ensembl 74_37 -1 known missense c.1336 p.G446S 0.844 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX18 HGNC ENSG00000112837 121 0 0 89 6 6.31579 MAP3K7 0 genome.wustl.edu 37 6 91254334 91254334 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 91254334 91254334 G A SNP MAP3K7 ENST00000369329 human ensembl 74_37 -1 known missense c.1228 p.R410W 1.000 pirsf_MAPKKK7 pirsf_MAPKKK7,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K7 HGNC ENSG00000135341 91 0 0 61 11 15.2778 MANEA 0 genome.wustl.edu 37 6 96034845 96034845 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 96034845 96034845 G A SNP MANEA ENST00000358812 human ensembl 74_37 +1 known missense c.530 p.R177H 0.263 superfamily_Glycoside_hydrolase_SF superfamily_Glycoside_hydrolase_SF - no_errors MANEA HGNC ENSG00000172469 107 0 0 87 6 6.45161 SRRT 0 genome.wustl.edu 37 7 100482596 100482596 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 100482596 100482596 G A SNP SRRT ENST00000388793 human ensembl 74_37 +1 known missense c.1094 p.G365D 1.000 NULL pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ENSG00000087087 361 0 0 245 36 12.8114 MUC17 0 genome.wustl.edu 37 7 100674455 100674455 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 100674455 100674455 A G SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.137 p.D46G 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 192 0 0 136 21 13.3758 RELN 0 genome.wustl.edu 37 7 103143664 103143664 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 103143664 103143664 C T SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.8288 p.C2763Y 1.000 superfamily_Sialidases pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 73 0 0 67 18 21.1765 LHFPL3 0 genome.wustl.edu 37 7 103969413 103969413 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 103969413 103969413 C T SNP LHFPL3 ENST00000535008 human ensembl 74_37 +1 known silent c.186 p.G62 1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL3 HGNC ENSG00000187416 94 0 0 60 14 18.9189 PIK3CG 0 genome.wustl.edu 37 7 106508673 106508673 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 106508673 106508673 G A SNP PIK3CG ENST00000359195 human ensembl 74_37 +1 known missense c.667 p.V223I 0.227 pfam_PI3K_Ras-bd_dom,smart_PI3K_Ras-bd_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CG HGNC ENSG00000105851 173 0 0 118 29 19.7279 LAMB1 0 genome.wustl.edu 37 7 107580735 107580735 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 107580735 107580735 C T SNP LAMB1 ENST00000222399 human ensembl 74_37 -1 known missense c.3460 p.V1154I 0.681 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,superfamily_P-loop_NTPase,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC ENSG00000091136 92 0 0 57 19 25 NRCAM 0 genome.wustl.edu 37 7 107824976 107824976 + Silent SNP T T G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 107824976 107824976 T G SNP NRCAM ENST00000379028 human ensembl 74_37 -1 known silent c.2118 p.T706 0.983 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NRCAM HGNC ENSG00000091129 66 0 0 41 8 16.3265 WNT16 0 genome.wustl.edu 37 7 120971947 120971947 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 120971947 120971947 G A SNP WNT16 ENST00000222462 human ensembl 74_37 +1 known missense c.562 p.G188R 0.189 pfam_Wnt,smart_Wnt,prints_Wnt16 pfam_Wnt,smart_Wnt,prints_Wnt16,prints_Wnt - no_errors WNT16 HGNC ENSG00000002745 104 0 0 76 5 6.17284 GPR37 0 genome.wustl.edu 37 7 124404756 124404756 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 124404756 124404756 G A SNP GPR37 ENST00000303921 human ensembl 74_37 -1 known missense c.275 p.P92L 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn - no_errors GPR37 HGNC ENSG00000170775 48 0 0 31 4 11.4286 SND1 0 genome.wustl.edu 37 7 127714599 127714599 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 127714599 127714599 G A SNP SND1 ENST00000354725 human ensembl 74_37 +1 known missense c.1825 p.G609S 1.000 pfam_Staphylococal_nuclease_OB-fold,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococal_nuclease_OB-fold,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Staphylococal_nuclease_OB-fold pfam_Staphylococal_nuclease_OB-fold,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococal_nuclease_OB-fold,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococal_nuclease_OB-fold - no_errors SND1 HGNC ENSG00000197157 63 0 0 34 9 20.9302 FLNC 0 genome.wustl.edu 37 7 128482407 128482407 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 128482407 128482407 C T SNP FLNC ENST00000325888 human ensembl 74_37 +1 known silent c.2244 p.N748 0.988 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 87 0 0 68 4 5.55556 FLNC 0 genome.wustl.edu 37 7 128494150 128494150 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 128494150 128494150 C T SNP FLNC ENST00000325888 human ensembl 74_37 +1 known missense c.6607 p.R2203C 1.000 NULL pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 48 0 0 37 4 9.7561 PLXNA4 0 genome.wustl.edu 37 7 131853208 131853208 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 131853208 131853208 G A SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.4141 p.R1381C 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 71 0 0 51 16 23.8806 SLC13A4 0 genome.wustl.edu 37 7 135366416 135366416 + Silent SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 135366416 135366416 T C SNP SLC13A4 ENST00000354042 human ensembl 74_37 -1 known silent c.1776 p.G592 0.988 pfam_Na/sul_symport,pfam_Cit_transptr-like_dom,pfam_DctM pfam_Na/sul_symport,pfam_Cit_transptr-like_dom,pfam_DctM - no_errors SLC13A4 HGNC ENSG00000164707 74 0 0 68 15 18.0723 CHRM2 0 genome.wustl.edu 37 7 136700605 136700605 + Silent SNP C C G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 136700605 136700605 C G SNP CHRM2 ENST00000320658 human ensembl 74_37 +1 known silent c.993 p.T331 0.998 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 117 0 0 74 19 20.4301 KIAA1549 0 genome.wustl.edu 37 7 138601880 138601880 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 138601880 138601880 G A SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known missense c.2492 p.A831V 0.001 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 68 0 0 25 7 21.875 TAS2R38 0 genome.wustl.edu 37 7 141673410 141673410 + Missense_Mutation SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 141673410 141673410 G T SNP TAS2R38 ENST00000547270 human ensembl 74_37 -1 known missense c.80 p.A27E 0.008 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R38 HGNC ENSG00000257138 139 1 0.714286 73 20 21.5054 TRPV6 0 genome.wustl.edu 37 7 142575711 142575711 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 142575711 142575711 T C SNP TRPV6 ENST00000359396 human ensembl 74_37 -1 known missense c.197 p.K66R 0.870 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6,prints_TRPV6_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel - no_errors TRPV6 HGNC ENSG00000165125 120 0 0 63 12 16 ZYX 0 genome.wustl.edu 37 7 143085633 143085633 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 143085633 143085633 G A SNP ZYX ENST00000322764 human ensembl 74_37 +1 known missense c.1196 p.R399H 0.072 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors ZYX HGNC ENSG00000159840 133 0 0 92 14 13.2075 CNTNAP2 0 genome.wustl.edu 37 7 147815286 147815286 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 147815286 147815286 C T SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known silent c.2460 p.S820 0.970 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 117 0 0 97 11 10.1852 C7orf33 0 genome.wustl.edu 37 7 148311382 148311382 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 148311382 148311382 C T SNP C7orf33 ENST00000307003 human ensembl 74_37 +1 known silent c.453 p.Y151 0.002 NULL NULL - no_errors C7orf33 HGNC ENSG00000170279 93 0 0 80 8 9.09091 CUL1 0 genome.wustl.edu 37 7 148489851 148489851 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 148489851 148489851 T C SNP CUL1 ENST00000325222 human ensembl 74_37 +1 known missense c.1840 p.Y614H 1.000 pfam_Cullin_N,superfamily_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL1 HGNC ENSG00000055130 46 0 0 28 3 9.67742 PDIA4 0 genome.wustl.edu 37 7 148709400 148709400 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 148709400 148709400 G A SNP PDIA4 ENST00000286091 human ensembl 74_37 -1 known missense c.667 p.L223F 1.000 pirsf_Protein_diS-isomerase_A4,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase pirsf_Protein_diS-isomerase_A4,pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,prints_Calsequestrin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase - no_errors PDIA4 HGNC ENSG00000155660 80 0 0 66 8 10.8108 SSPO 0 genome.wustl.edu 37 7 149515750 149515750 + RNA SNP G G C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 149515750 149515750 G C SNP SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SSPO HGNC ENSG00000197558 45 0 0 34 5 12.8205 DPP6 0 genome.wustl.edu 37 7 154585835 154585835 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 154585835 154585835 G A SNP DPP6 ENST00000377770 human ensembl 74_37 +1 known missense c.1183 p.A395T 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC ENSG00000130226 39 0 0 35 9 20.4545 NCAPG2 0 genome.wustl.edu 37 7 158472698 158472698 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 158472698 158472698 G A SNP NCAPG2 ENST00000409339 human ensembl 74_37 -1 known missense c.1100 p.A367V 0.000 superfamily_ARM-type_fold pfam_Condensin2_G2,superfamily_ARM-type_fold - no_errors NCAPG2 HGNC ENSG00000146918 127 0 0 73 37 33.6364 ESYT2 0 genome.wustl.edu 37 7 158534291 158534291 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 158534291 158534291 C T SNP ESYT2 ENST00000251527 human ensembl 74_37 -1 known silent c.2172 p.P724 0.999 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors ESYT2 HGNC ENSG00000117868 92 0 0 60 9 13.0435 BRAT1 0 genome.wustl.edu 37 7 2578880 2578880 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 2578880 2578880 G A SNP BRAT1 ENST00000340611 human ensembl 74_37 -1 known missense c.1703 p.A568V 0.209 pfam_HEAT,superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors BRAT1 HGNC ENSG00000106009 64 0 0 29 7 19.4444 CARD11 0 genome.wustl.edu 37 7 2959215 2959215 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 2959215 2959215 G A SNP CARD11 ENST00000396946 human ensembl 74_37 -1 known silent c.2301 p.D767 0.007 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 37 0 0 19 7 26.9231 GHRHR 0 genome.wustl.edu 37 7 31013693 31013693 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 31013693 31013693 C A SNP GHRHR ENST00000326139 human ensembl 74_37 +1 known missense c.691 p.L231M 0.960 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_GHRH_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt_1 - no_errors GHRHR HGNC ENSG00000106128 155 0 0 107 15 12.2951 PDE1C 0 genome.wustl.edu 37 7 31887708 31887708 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 31887708 31887708 G A SNP PDE1C ENST00000321453 human ensembl 74_37 -1 known missense c.854 p.S285F 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1C HGNC ENSG00000154678 105 0 0 76 5 6.17284 FKBP9 0 genome.wustl.edu 37 7 33014897 33014897 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 33014897 33014897 G A SNP FKBP9 ENST00000538336 human ensembl 74_37 +1 known silent c.630 p.P210 0.001 NULL pfam_PPIase_FKBP_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP9 HGNC ENSG00000122642 104 0 0 61 15 19.7368 DPY19L2P1 0 genome.wustl.edu 37 7 35131548 35131548 + RNA SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 35131548 35131548 G A SNP DPY19L2P1 ENST00000436258 human ensembl 74_37 -1 known rna NULL NULL 0.985 - - - no_errors DPY19L2P1 HGNC ENSG00000189212 78 0 0 57 5 8.06452 GLI3 0 genome.wustl.edu 37 7 42005111 42005111 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 42005111 42005111 T C SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.3560 p.Q1187R 0.834 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 222 0 0 159 11 6.47059 GLI3 0 genome.wustl.edu 37 7 42005485 42005485 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 42005485 42005485 C T SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known silent c.3186 p.S1062 0.024 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 119 0 0 59 11 15.7143 CAMK2B 0 genome.wustl.edu 37 7 44302628 44302628 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 44302628 44302628 G A SNP CAMK2B ENST00000395749 human ensembl 74_37 -1 known missense c.196 p.R66C 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMK2B HGNC ENSG00000058404 104 0 0 62 16 20.5128 AP5Z1 0 genome.wustl.edu 37 7 4821204 4821204 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 4821204 4821204 A G SNP AP5Z1 ENST00000348624 human ensembl 74_37 +1 known missense c.185 p.E62G 0.948 NULL NULL - no_errors AP5Z1 HGNC ENSG00000242802 50 0 0 26 8 23.5294 AP5Z1 0 genome.wustl.edu 37 7 4830319 4830319 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 4830319 4830319 G A SNP AP5Z1 ENST00000348624 human ensembl 74_37 +1 known missense c.1954 p.E652K 1.000 NULL NULL - no_errors AP5Z1 HGNC ENSG00000242802 28 0 0 22 5 18.5185 IKZF1 0 genome.wustl.edu 37 7 50367275 50367275 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 50367275 50367275 G A SNP IKZF1 ENST00000331340 human ensembl 74_37 +1 known missense c.82 p.D28N 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF1 HGNC ENSG00000185811 30 0 0 25 6 19.3548 RBAK-RBAKDN 0 genome.wustl.edu 37 7 5112677 5112677 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 5112677 5112677 G A SNP RBAK-RBAKDN ENST00000407184 human ensembl 74_37 +1 known missense c.560 p.R187H 0.073 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors RBAK-RBAKDN HGNC ENSG00000272968 77 0 0 42 7 14.2857 WIPI2 0 genome.wustl.edu 37 7 5257644 5257644 + Missense_Mutation SNP A A C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 5257644 5257644 A C SNP WIPI2 ENST00000288828 human ensembl 74_37 +1 known missense c.668 p.K223T 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WIPI2 HGNC ENSG00000157954 159 0 0 118 18 13.2353 TNRC18 0 genome.wustl.edu 37 7 5415855 5415855 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 5415855 5415855 G A SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known missense c.2609 p.A870V 0.999 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 12 0 0 8 3 27.2727 SNORA15 0 genome.wustl.edu 37 7 56128220 56128220 + RNA SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 56128220 56128220 G T SNP SNORA15 ENST00000384439 human ensembl 74_37 +1 known rna NULL NULL 0.994 - - - no_errors SNORA15 HGNC ENSG00000207168 51 0 0 47 5 9.61538 GTF2IRD1P1 0 genome.wustl.edu 37 7 66297996 66297996 + RNA SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 66297996 66297996 C T SNP GTF2IRD1P1 ENST00000457166 human ensembl 74_37 -1 known rna NULL NULL 0.791 - - - no_errors GTF2IRD1P1 HGNC ENSG00000230583 74 0 0 40 19 32.2034 NCF1 0 genome.wustl.edu 37 7 74197385 74197385 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 74197385 74197385 C T SNP NCF1 ENST00000289473 human ensembl 74_37 +1 known silent c.555 p.V185 0.812 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_NADPH_oxidase_p47Phox_C,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain,prints_P47PHOX - no_errors NCF1 HGNC ENSG00000158517 104 0 0 58 14 19.4444 WBSCR16 0 genome.wustl.edu 37 7 74486480 74486480 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 74486480 74486480 C T SNP WBSCR16 ENST00000329959 human ensembl 74_37 -1 known missense c.428 p.G143E 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors WBSCR16 HGNC ENSG00000174374 109 0 0 100 7 6.54206 HIP1 0 genome.wustl.edu 37 7 75167506 75167506 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 75167506 75167506 G A SNP HIP1 ENST00000336926 human ensembl 74_37 -1 known missense c.3101 p.T1034I 0.151 NULL pfam_ANTH_dom,pfam_ILWEQ_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Epsin-like_N,smart_ILWEQ_dom,pfscan_Epsin-like_N,pfscan_ILWEQ_dom - no_errors HIP1 HGNC ENSG00000127946 175 0 0 133 21 13.6364 RSBN1L 0 genome.wustl.edu 37 7 77325880 77325880 + Missense_Mutation SNP T T G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 77325880 77325880 T G SNP RSBN1L ENST00000334955 human ensembl 74_37 +1 known missense c.94 p.S32A 0.001 NULL NULL - no_errors RSBN1L HGNC ENSG00000187257 139 0 0 102 17 14.2857 SEMA3C 0 genome.wustl.edu 37 7 80430101 80430101 + Missense_Mutation SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 80430101 80430101 G T SNP SEMA3C ENST00000544525 human ensembl 74_37 -1 known missense c.1012 p.L338I 0.996 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Ig_I-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3C HGNC ENSG00000075223 114 0 0 79 6 7.05882 DMTF1 0 genome.wustl.edu 37 7 86824094 86824094 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 86824094 86824094 C T SNP DMTF1 ENST00000331242 human ensembl 74_37 +1 known missense c.2123 p.A708V 0.974 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors DMTF1 HGNC ENSG00000135164 76 0 0 44 15 25.4237 ADAM22 0 genome.wustl.edu 37 7 87762257 87762257 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 87762257 87762257 C T SNP ADAM22 ENST00000265727 human ensembl 74_37 +1 known silent c.1068 p.G356 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM22 HGNC ENSG00000008277 133 0 0 107 9 7.75862 CYP51A1 0 genome.wustl.edu 37 7 91763674 91763674 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 91763674 91763674 G A SNP CYP51A1 ENST00000003100 human ensembl 74_37 -1 known missense c.5 p.A2V 0.005 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP51A1 HGNC ENSG00000001630 27 0 0 25 3 10.7143 TFPI2 0 genome.wustl.edu 37 7 93519522 93519522 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 93519522 93519522 G A SNP TFPI2 ENST00000222543 human ensembl 74_37 -1 known silent c.198 p.Y66 0.653 pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors TFPI2 HGNC ENSG00000105825 90 0 0 91 5 5.20833 DLX5 0 genome.wustl.edu 37 7 96651532 96651532 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 96651532 96651532 C T SNP DLX5 ENST00000222598 human ensembl 74_37 -1 known missense c.505 p.E169K 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa pfam_Distal-less_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX5 HGNC ENSG00000105880 191 0 0 127 16 11.1888 NPTX2 0 genome.wustl.edu 37 7 98249051 98249051 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 98249051 98249051 C T SNP NPTX2 ENST00000265634 human ensembl 74_37 +1 known missense c.523 p.R175C 0.682 NULL pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors NPTX2 HGNC ENSG00000106236 84 0 0 59 11 15.7143 TRRAP 0 genome.wustl.edu 37 7 98519385 98519385 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 98519385 98519385 C T SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.2632 p.R878C 1.000 superfamily_ARM-type_fold 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 101 0 0 70 13 15.6627 ZSCAN25 0 genome.wustl.edu 37 7 99217366 99217366 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 99217366 99217366 G A SNP ZSCAN25 ENST00000334715 human ensembl 74_37 +1 known missense c.137 p.R46Q 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN25 HGNC ENSG00000197037 274 0 0 169 50 22.8311 ZSCAN21 0 genome.wustl.edu 37 7 99661618 99661618 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 99661618 99661618 C A SNP ZSCAN21 ENST00000292450 human ensembl 74_37 +1 known missense c.800 p.P267H 0.004 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN21 HGNC ENSG00000166529 75 0 0 47 5 9.61538 SNX31 0 genome.wustl.edu 37 8 101648123 101648123 + Splice_Site SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 101648123 101648123 A G SNP SNX31 ENST00000311812 human ensembl 74_37 -1 known splice_site c.256+2 e3+2 1.000 - - - no_errors SNX31 HGNC ENSG00000174226 52 0 0 45 10 18.1818 ZFPM2 0 genome.wustl.edu 37 8 106811058 106811058 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 106811058 106811058 G A SNP ZFPM2 ENST00000407775 human ensembl 74_37 +1 known silent c.846 p.P282 0.620 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 136 0 0 113 7 5.83333 RAD21 0 genome.wustl.edu 37 8 117861199 117861199 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 117861199 117861199 G A SNP RAD21 ENST00000297338 human ensembl 74_37 -1 known missense c.1690 p.L564F 1.000 pfam_ScpA pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu,pfam_ScpA - no_errors RAD21 HGNC ENSG00000164754 153 1 0.649351 138 26 15.8537 ANXA13 0 genome.wustl.edu 37 8 124748069 124748069 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 124748069 124748069 C A SNP ANXA13 ENST00000262219 human ensembl 74_37 -1 known missense c.64 p.D22Y 0.148 NULL pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXIII - no_errors ANXA13 HGNC ENSG00000104537 134 0 0 126 7 5.26316 MTSS1 0 genome.wustl.edu 37 8 125565703 125565703 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 125565703 125565703 G A SNP MTSS1 ENST00000518547 human ensembl 74_37 -1 known missense c.1798 p.R600C 1.000 NULL pfam_IRSp53/MIM_homology_IMD,pfscan_WH2_dom - no_errors MTSS1 HGNC ENSG00000170873 63 0 0 37 8 17.7778 POU5F1B 0 genome.wustl.edu 37 8 128428447 128428447 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 128428447 128428447 G A SNP POU5F1B ENST00000391675 human ensembl 74_37 +1 known silent c.336 p.P112 0.005 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU5F1B HGNC ENSG00000212993 42 0 0 35 9 20.4545 ADCY8 0 genome.wustl.edu 37 8 131916225 131916225 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 131916225 131916225 G A SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known silent c.1704 p.G568 0.078 pfam_A/G_cyclase,superfamily_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 228 0 0 146 33 18.4358 ADCY8 0 genome.wustl.edu 37 8 132002688 132002688 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 132002688 132002688 C A SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known missense c.1061 p.R354L 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 243 0 0 192 13 6.34146 PHF20L1 0 genome.wustl.edu 37 8 133854799 133854799 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 133854799 133854799 C T SNP PHF20L1 ENST00000220847 human ensembl 74_37 +1 known silent c.588 p.S196 0.631 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD - no_errors PHF20L1 HGNC ENSG00000129292 53 0 0 47 8 14.5455 ZFAT 0 genome.wustl.edu 37 8 135614475 135614475 + Missense_Mutation SNP T T A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 135614475 135614475 T A SNP ZFAT ENST00000377838 human ensembl 74_37 -1 known missense c.1487 p.Q496L 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ENSG00000066827 65 0 0 36 3 7.69231 TRAPPC9 0 genome.wustl.edu 37 8 141461466 141461466 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 141461466 141461466 C T SNP TRAPPC9 ENST00000389328 human ensembl 74_37 -1 known missense c.301 p.V101I 0.987 NULL pfam_TRAPP_II_complex_Trs120 - no_errors TRAPPC9 HGNC ENSG00000167632 62 0 0 45 13 22.4138 AGO2 0 genome.wustl.edu 37 8 141561427 141561427 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 141561427 141561427 G A SNP AGO2 ENST00000220592 human ensembl 74_37 -1 known missense c.1378 p.R460C 1.000 NULL pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO2 HGNC ENSG00000123908 184 0 0 152 10 6.17284 SLC45A4 0 genome.wustl.edu 37 8 142221613 142221613 + Silent SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 142221613 142221613 G T SNP SLC45A4 ENST00000024061 human ensembl 74_37 -1 known silent c.2325 p.P775 0.000 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A4 HGNC ENSG00000022567 228 0 0 151 25 14.2045 LYNX1 0 genome.wustl.edu 37 8 143846082 143846082 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 143846082 143846082 C A SNP LYNX1 ENST00000335822 human ensembl 74_37 -1 known missense c.337 p.G113C 0.246 pfam_LY6_UPAR pfam_LY6_UPAR - no_errors LYNX1 HGNC ENSG00000180155 134 0 0 100 12 10.7143 GLI4 0 genome.wustl.edu 37 8 144351661 144351661 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 144351661 144351661 C A SNP GLI4 ENST00000340042 human ensembl 74_37 +1 known missense c.95 p.P32H 0.009 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI4 HGNC ENSG00000250571 258 0 0 209 28 11.8143 TSTA3 0 genome.wustl.edu 37 8 144695702 144695702 + Nonsense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 144695702 144695702 C A SNP TSTA3 ENST00000425753 human ensembl 74_37 -1 known nonsense c.802 p.E268* 0.996 NULL pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct - no_errors TSTA3 HGNC ENSG00000104522 32 0 0 22 5 18.5185 ZNF707 0 genome.wustl.edu 37 8 144776725 144776725 + RNA SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 144776725 144776725 C T SNP ZNF707 ENST00000527561 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF707 HGNC ENSG00000181135 28 0 0 23 2 8 MICU3 0 genome.wustl.edu 37 8 16884802 16884802 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 16884802 16884802 G A SNP MICU3 ENST00000318063 human ensembl 74_37 +1 known missense c.14 p.R5Q 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MICU3 HGNC ENSG00000155970 53 0 0 47 4 7.84314 MICU3 0 genome.wustl.edu 37 8 16884830 16884830 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 16884830 16884830 G A SNP MICU3 ENST00000318063 human ensembl 74_37 +1 known silent c.42 p.V14 0.001 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MICU3 HGNC ENSG00000155970 47 0 0 35 8 18.6047 ARHGEF10 0 genome.wustl.edu 37 8 1842672 1842672 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 1842672 1842672 C T SNP ARHGEF10 ENST00000398564 human ensembl 74_37 +1 known silent c.1449 p.I483 0.014 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10 HGNC ENSG00000104728 82 0 0 66 6 8.33333 PSD3 0 genome.wustl.edu 37 8 18729874 18729874 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 18729874 18729874 T C SNP PSD3 ENST00000440756 human ensembl 74_37 -1 known missense c.500 p.Q167R 0.486 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors PSD3 HGNC ENSG00000156011 135 0 0 111 7 5.9322 INTS10 0 genome.wustl.edu 37 8 19680854 19680854 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 19680854 19680854 G A SNP INTS10 ENST00000397977 human ensembl 74_37 +1 known missense c.566 p.R189Q 1.000 NULL NULL - no_errors INTS10 HGNC ENSG00000104613 122 0 0 105 15 12.5 NPM2 0 genome.wustl.edu 37 8 21892019 21892019 + Splice_Site SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 21892019 21892019 A G SNP NPM2 ENST00000397940 human ensembl 74_37 +1 known splice_site c.532-2 e6-2 1.000 - - - no_errors NPM2 HGNC ENSG00000158806 191 0 0 128 7 5.18519 PPP3CC 0 genome.wustl.edu 37 8 22368626 22368626 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 22368626 22368626 A G SNP PPP3CC ENST00000240139 human ensembl 74_37 +1 known missense c.512 p.Y171C 1.000 pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP3CC HGNC ENSG00000120910 162 0 0 97 6 5.82524 NEFM 0 genome.wustl.edu 37 8 24771944 24771944 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 24771944 24771944 C T SNP NEFM ENST00000221166 human ensembl 74_37 +1 known missense c.638 p.A213V 0.998 pfam_IF,prints_Keratin_I pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I - no_errors NEFM HGNC ENSG00000104722 54 0 0 44 6 12 PNMA2 0 genome.wustl.edu 37 8 26366267 26366267 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 26366267 26366267 G A SNP PNMA2 ENST00000522362 human ensembl 74_37 -1 known missense c.5 p.A2V 0.946 NULL pfam_Retrotrans_gag_dom - no_errors PNMA2 HGNC ENSG00000240694 202 0 0 179 17 8.67347 EXTL3 0 genome.wustl.edu 37 8 28575348 28575348 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 28575348 28575348 G A SNP EXTL3 ENST00000220562 human ensembl 74_37 +1 known missense c.1772 p.R591H 1.000 NULL pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXTL3 HGNC ENSG00000012232 102 0 0 58 18 23.6842 KIF13B 0 genome.wustl.edu 37 8 28974382 28974382 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 28974382 28974382 C T SNP KIF13B ENST00000524189 human ensembl 74_37 -1 known missense c.3803 p.R1268H 1.000 pfam_Kinesin-like 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 90 0 0 81 13 13.8298 KIF13B 0 genome.wustl.edu 37 8 29006250 29006250 + Nonsense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 29006250 29006250 G A SNP KIF13B ENST00000524189 human ensembl 74_37 -1 known nonsense c.1657 p.R553* 0.000 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 127 0 0 107 27 20.1493 CSMD1 0 genome.wustl.edu 37 8 3057289 3057289 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 3057289 3057289 C T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.5144 p.R1715Q 0.867 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 13 0 0 7 4 36.3636 FUT10 0 genome.wustl.edu 37 8 33310939 33310939 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 33310939 33310939 C T SNP FUT10 ENST00000327671 human ensembl 74_37 -1 known silent c.171 p.T57 0.000 pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met - no_errors FUT10 HGNC ENSG00000172728 115 0 0 79 6 7.05882 PROSC 0 genome.wustl.edu 37 8 37633536 37633536 + Splice_Site SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 37633536 37633536 T C SNP PROSC ENST00000328195 human ensembl 74_37 +1 known splice_site c.696+2 e7+2 1.000 - - - no_errors PROSC HGNC ENSG00000147471 143 0 0 106 25 19.084 WHSC1L1 0 genome.wustl.edu 37 8 38205365 38205365 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 38205365 38205365 T C SNP WHSC1L1 ENST00000317025 human ensembl 74_37 -1 known missense c.325 p.T109A 1.000 NULL pfam_PWWP_dom,pfam_SET_dom,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors WHSC1L1 HGNC ENSG00000147548 162 0 0 151 11 6.79012 MCM4 0 genome.wustl.edu 37 8 48878898 48878898 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 48878898 48878898 C T SNP MCM4 ENST00000262105 human ensembl 74_37 +1 known silent c.984 p.C328 0.013 superfamily_NA-bd_OB-fold,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_4,prints_MCM_DNA-dep_ATPase - no_errors MCM4 HGNC ENSG00000104738 57 0 0 50 10 16.6667 SNAI2 0 genome.wustl.edu 37 8 49832848 49832848 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 49832848 49832848 C T SNP SNAI2 ENST00000020945 human ensembl 74_37 -1 known missense c.232 p.G78R 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI2 HGNC ENSG00000019549 187 0 0 112 33 22.7586 SNTG1 0 genome.wustl.edu 37 8 51465608 51465608 + Splice_Site SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 51465608 51465608 A G SNP SNTG1 ENST00000518864 human ensembl 74_37 +1 known splice_site c.681-2 e10-2 1.000 - - - no_errors SNTG1 HGNC ENSG00000147481 83 0 0 65 16 19.7531 RP1 0 genome.wustl.edu 37 8 55533898 55533898 + Silent SNP G G C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 55533898 55533898 G C SNP RP1 ENST00000220676 human ensembl 74_37 +1 known silent c.372 p.P124 0.672 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 123 0 0 99 30 23.2558 RP1 0 genome.wustl.edu 37 8 55540617 55540617 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 55540617 55540617 A G SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.4175 p.N1392S 0.892 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 97 0 0 58 8 12.1212 XKR4 0 genome.wustl.edu 37 8 56015703 56015703 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 56015703 56015703 G A SNP XKR4 ENST00000327381 human ensembl 74_37 +1 known missense c.655 p.A219T 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR4 HGNC ENSG00000206579 72 0 0 51 14 21.5385 TMEM68 0 genome.wustl.edu 37 8 56675290 56675290 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 56675290 56675290 T C SNP TMEM68 ENST00000434581 human ensembl 74_37 -1 known missense c.229 p.K77E 1.000 NULL pfam_Plipid/glycerol_acylTrfase - no_errors TMEM68 HGNC ENSG00000167904 156 0 0 117 13 10 CHD7 0 genome.wustl.edu 37 8 61654851 61654851 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 61654851 61654851 C T SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known missense c.860 p.P287L 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 211 0 0 156 29 15.6757 ANGPT2 0 genome.wustl.edu 37 8 6371335 6371335 + Missense_Mutation SNP G G C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 6371335 6371335 G C SNP ANGPT2 ENST00000325203 human ensembl 74_37 -1 known missense c.1063 p.L355V 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 ANGPT2 HGNC ENSG00000091879 106 0 0 69 16 18.8235 MYBL1 0 genome.wustl.edu 37 8 67488263 67488263 + Silent SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 67488263 67488263 T C SNP MYBL1 ENST00000522677 human ensembl 74_37 -1 known silent c.1449 p.T483 1.000 NULL pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL1 HGNC ENSG00000185697 45 0 0 28 7 20 MYBL1 0 genome.wustl.edu 37 8 67488564 67488564 + Missense_Mutation SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 67488564 67488564 G T SNP MYBL1 ENST00000522677 human ensembl 74_37 -1 known missense c.1148 p.A383D 1.000 NULL pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL1 HGNC ENSG00000185697 209 0 0 143 17 10.625 PREX2 0 genome.wustl.edu 37 8 68992720 68992720 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 68992720 68992720 G A SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.1685 p.R562H 1.000 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom 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 83 0 0 59 6 9.23077 CRISPLD1 0 genome.wustl.edu 37 8 75898439 75898439 + Nonsense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 75898439 75898439 C T SNP CRISPLD1 ENST00000262207 human ensembl 74_37 +1 known nonsense c.217 p.R73* 0.998 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1 pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1 - no_errors CRISPLD1 HGNC ENSG00000121005 135 0 0 96 12 11.1111 FAM86B3P 0 genome.wustl.edu 37 8 8093365 8093365 + RNA SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 8093365 8093365 G A SNP FAM86B3P ENST00000522601 human ensembl 74_37 +1 known rna NULL NULL 0.879 - - - no_errors FAM86B3P HGNC ENSG00000173295 43 0 0 35 5 12.5 KIAA1429 0 genome.wustl.edu 37 8 95539493 95539493 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 95539493 95539493 C T SNP KIAA1429 ENST00000297591 human ensembl 74_37 -1 known missense c.979 p.A327T 1.000 NULL superfamily_ARM-type_fold - no_errors KIAA1429 HGNC ENSG00000164944 85 0 0 66 7 9.58904 CCNE2 0 genome.wustl.edu 37 8 95902778 95902778 + Missense_Mutation SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 95902778 95902778 G T SNP CCNE2 ENST00000308108 human ensembl 74_37 -1 known missense c.318 p.S106R 1.000 superfamily_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNE2 HGNC ENSG00000175305 178 1 0.558659 146 17 10.4294 POP1 0 genome.wustl.edu 37 8 99146739 99146739 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 99146739 99146739 G A SNP POP1 ENST00000349693 human ensembl 74_37 +1 known missense c.863 p.R288H 0.929 NULL pfam_RNase_P/MRP_POP1,pfam_POPLD - no_errors POP1 HGNC ENSG00000104356 121 0 0 83 23 21.6981 CCDC180 0 genome.wustl.edu 37 9 100057269 100057269 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 100057269 100057269 G A SNP CCDC180 ENST00000357054 human ensembl 74_37 +1 known silent c.393 p.S131 0.052 NULL NULL - no_errors CCDC180 HGNC ENSG00000197816 55 0 0 33 9 21.4286 CCDC180 0 genome.wustl.edu 37 9 100105645 100105645 + Silent SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 100105645 100105645 A G SNP CCDC180 ENST00000375202 human ensembl 74_37 +1 known silent c.2430 p.L810 0.000 NULL NULL - no_errors CCDC180 HGNC ENSG00000197816 92 0 0 56 27 32.5301 ACTL7B 0 genome.wustl.edu 37 9 111617947 111617947 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 111617947 111617947 G A SNP ACTL7B ENST00000374667 human ensembl 74_37 -1 known silent c.264 p.D88 0.001 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL7B HGNC ENSG00000148156 171 0 0 106 41 27.8912 SVEP1 0 genome.wustl.edu 37 9 113190032 113190032 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 113190032 113190032 C A SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known missense c.5814 p.Q1938H 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 117 0 0 61 30 32.967 PTGR1 0 genome.wustl.edu 37 9 114332454 114332454 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 114332454 114332454 G A SNP PTGR1 ENST00000309195 human ensembl 74_37 -1 known missense c.796 p.R266C 0.996 pfam_ADH_C,smart_PKS_ER,tigrfam_B4_12hDH pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER,tigrfam_B4_12hDH - no_errors PTGR1 HGNC ENSG00000106853 49 0 0 35 10 22.2222 C9orf43 0 genome.wustl.edu 37 9 116187657 116187657 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 116187657 116187657 A G SNP C9orf43 ENST00000288462 human ensembl 74_37 +1 known missense c.899 p.Q300R 0.986 NULL NULL - no_errors C9orf43 HGNC ENSG00000157653 121 0 0 69 5 6.75676 ZNF618 0 genome.wustl.edu 37 9 116812484 116812484 + RNA SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 116812484 116812484 G T SNP ZNF618 ENST00000470105 human ensembl 74_37 +1 known rna NULL NULL 0.334 - - - no_errors ZNF618 HGNC ENSG00000157657 83 0 0 46 10 17.8571 ASTN2 0 genome.wustl.edu 37 9 119413907 119413907 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 119413907 119413907 C T SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.2972 p.R991H 1.000 smart_MACPF pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 145 0 0 83 10 10.7527 CDK5RAP2 0 genome.wustl.edu 37 9 123165314 123165314 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 123165314 123165314 C T SNP CDK5RAP2 ENST00000349780 human ensembl 74_37 -1 known missense c.5077 p.D1693N 0.965 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC ENSG00000136861 124 0 0 92 20 17.8571 MEGF9 0 genome.wustl.edu 37 9 123370165 123370165 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 123370165 123370165 C T SNP MEGF9 ENST00000426959 human ensembl 74_37 -1 known missense c.1322 p.G441D 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF9 HGNC ENSG00000106780 229 0 0 174 60 25.641 NDUFA8 0 genome.wustl.edu 37 9 124906542 124906542 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 124906542 124906542 C T SNP NDUFA8 ENST00000373768 human ensembl 74_37 -1 known missense c.497 p.R166H 0.921 NULL pfam_CHCH,pirsf_NADH_Ub_cplx-1_asu_su-8 - no_errors NDUFA8 HGNC ENSG00000119421 78 0 0 76 7 8.43373 OR1Q1 0 genome.wustl.edu 37 9 125377119 125377119 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 125377119 125377119 T C SNP OR1Q1 ENST00000297913 human ensembl 74_37 +1 known missense c.103 p.Y35H 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1Q1 HGNC ENSG00000165202 223 0 0 163 45 21.6346 RC3H2 0 genome.wustl.edu 37 9 125618021 125618021 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 125618021 125618021 G A SNP RC3H2 ENST00000357244 human ensembl 74_37 -1 known missense c.2591 p.A864V 1.000 NULL pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H2 HGNC ENSG00000056586 138 0 0 87 19 17.9245 RABGAP1 0 genome.wustl.edu 37 9 125758824 125758824 + Silent SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 125758824 125758824 T C SNP RABGAP1 ENST00000373647 human ensembl 74_37 +1 known silent c.1041 p.F347 1.000 pfam_Kinesin-like pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1 HGNC ENSG00000011454 69 0 0 61 8 11.5942 DENND1A 0 genome.wustl.edu 37 9 126319911 126319911 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 126319911 126319911 C T SNP DENND1A ENST00000394219 human ensembl 74_37 -1 known missense c.835 p.A279T 1.000 pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1A HGNC ENSG00000119522 64 0 0 36 6 14.2857 GARNL3 0 genome.wustl.edu 37 9 130111247 130111247 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 130111247 130111247 C T SNP GARNL3 ENST00000373387 human ensembl 74_37 +1 known silent c.1476 p.A492 0.904 smart_Citron pfam_Citron,pfam_Rap_GAP_dom,smart_Citron,pfscan_Rap_GAP_dom - no_errors GARNL3 HGNC ENSG00000136895 85 0 0 52 13 20 SWI5 0 genome.wustl.edu 37 9 131038511 131038511 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 131038511 131038511 C T SNP SWI5 ENST00000320188 human ensembl 74_37 +1 known silent c.87 p.G29 0.008 NULL pfam_DNA-repair_Swi5 - no_errors SWI5 HGNC ENSG00000175854 74 0 0 44 8 15.3846 SPTAN1 0 genome.wustl.edu 37 9 131351145 131351145 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 131351145 131351145 G A SNP SPTAN1 ENST00000358161 human ensembl 74_37 +1 known missense c.2929 p.D977N 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 102 0 0 76 11 12.6437 LRRC8A 0 genome.wustl.edu 37 9 131670898 131670898 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 131670898 131670898 G A SNP LRRC8A ENST00000259324 human ensembl 74_37 +1 known silent c.1455 p.A485 0.007 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8A HGNC ENSG00000136802 57 0 0 24 5 17.2414 ASS1 0 genome.wustl.edu 37 9 133355118 133355118 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 133355118 133355118 T C SNP ASS1 ENST00000352480 human ensembl 74_37 +1 known missense c.704 p.V235A 1.000 pfam_Arginosuc_synth,tigrfam_Arginosuc_synth pfam_Arginosuc_synth,pfam_QueC,tigrfam_Arginosuc_synth - no_errors ASS1 HGNC ENSG00000130707 148 0 0 101 23 18.5484 TSC1 0 genome.wustl.edu 37 9 135786042 135786042 + Silent SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 135786042 135786042 G T SNP TSC1 ENST00000298552 human ensembl 74_37 -1 known silent c.1179 p.T393 1.000 pfam_Hamartin pfam_Hamartin,superfamily_ARM-type_fold - no_errors TSC1 HGNC ENSG00000165699 278 0 0 247 17 6.43939 COL5A1 0 genome.wustl.edu 37 9 137591908 137591908 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 137591908 137591908 C T SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known missense c.431 p.T144M 0.790 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G 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 109 0 0 69 22 24.1758 COL5A1 0 genome.wustl.edu 37 9 137657580 137657580 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 137657580 137657580 C T SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known silent c.2088 p.P696 0.834 NULL 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 125 0 0 75 21 21.875 SOHLH1 0 genome.wustl.edu 37 9 138588520 138588520 + Missense_Mutation SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 138588520 138588520 G T SNP SOHLH1 ENST00000425225 human ensembl 74_37 -1 known missense c.599 p.T200K 0.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SOHLH1 HGNC ENSG00000165643 63 0 0 41 13 24.0741 SEC16A 0 genome.wustl.edu 37 9 139369938 139369938 + Silent SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 139369938 139369938 G T SNP SEC16A ENST00000313050 human ensembl 74_37 -1 known silent c.2130 p.A710 0.888 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 39 0 0 15 4 21.0526 ABCA2 0 genome.wustl.edu 37 9 139904454 139904454 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 139904454 139904454 G A SNP ABCA2 ENST00000265662 human ensembl 74_37 -1 known missense c.6476 p.S2159F 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ENSG00000107331 15 0 0 10 2 16.6667 UAP1L1 0 genome.wustl.edu 37 9 139975224 139975224 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 139975224 139975224 G A SNP UAP1L1 ENST00000409858 human ensembl 74_37 +1 known missense c.1262 p.R421H 0.987 pfam_UDPGP_trans pfam_UDPGP_trans - no_errors UAP1L1 HGNC ENSG00000197355 114 1 0.869565 86 22 20.3704 PNPLA7 0 genome.wustl.edu 37 9 140361857 140361857 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 140361857 140361857 C T SNP PNPLA7 ENST00000406427 human ensembl 74_37 -1 known missense c.2951 p.G984D 1.000 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA7 HGNC ENSG00000130653 79 0 0 68 22 24.4444 ELAVL2 0 genome.wustl.edu 37 9 23762085 23762085 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 23762085 23762085 T C SNP ELAVL2 ENST00000380117 human ensembl 74_37 -1 known missense c.148 p.M50V 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL2 HGNC ENSG00000107105 174 0 0 133 8 5.67376 TOPORS 0 genome.wustl.edu 37 9 32544006 32544006 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 32544006 32544006 T C SNP TOPORS ENST00000360538 human ensembl 74_37 -1 known missense c.517 p.T173A 0.107 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors TOPORS HGNC ENSG00000197579 127 0 0 81 18 18.1818 FANCG 0 genome.wustl.edu 37 9 35077266 35077266 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 35077266 35077266 C T SNP FANCG ENST00000378643 human ensembl 74_37 -1 known missense c.641 p.R214H 0.994 NULL superfamily_Sig_transdc_His_kin_Hpt_dom,smart_TPR_repeat - no_errors FANCG HGNC ENSG00000221829 184 0 0 117 24 17.0213 RUSC2 0 genome.wustl.edu 37 9 35547551 35547551 + Silent SNP A A C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 35547551 35547551 A C SNP RUSC2 ENST00000361226 human ensembl 74_37 +1 known silent c.1033 p.R345 0.184 NULL pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC2 HGNC ENSG00000198853 161 0 0 120 9 6.97674 CA9 0 genome.wustl.edu 37 9 35676071 35676071 + Silent SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 35676071 35676071 C A SNP CA9 ENST00000378357 human ensembl 74_37 +1 known silent c.615 p.T205 0.997 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA9 HGNC ENSG00000107159 44 0 0 25 7 21.875 GNE 0 genome.wustl.edu 37 9 36217375 36217375 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 36217375 36217375 C T SNP GNE ENST00000396594 human ensembl 74_37 -1 known missense c.2249 p.R750H 1.000 NULL pfam_UDP_GlcNAc_Epimerase_2,pfam_ROK,prints_Hexokinase,tigrfam_UDP-GlcNAc_Epase - no_errors GNE HGNC ENSG00000159921 36 0 0 29 8 21.6216 POLR1E 0 genome.wustl.edu 37 9 37489339 37489339 + Silent SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 37489339 37489339 C A SNP POLR1E ENST00000377792 human ensembl 74_37 +1 known silent c.471 p.T157 1.000 pfam_RNA_pol-assoc_fac_A49-like pfam_RNA_pol-assoc_fac_A49-like - no_errors POLR1E HGNC ENSG00000137054 97 0 0 70 23 24.7312 TMEM252 0 genome.wustl.edu 37 9 71155631 71155631 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 71155631 71155631 A G SNP TMEM252 ENST00000377311 human ensembl 74_37 -1 known missense c.100 p.F34L 0.000 NULL NULL - no_errors TMEM252 HGNC ENSG00000181778 73 0 0 42 8 16 APBA1 0 genome.wustl.edu 37 9 72067197 72067197 + Silent SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 72067197 72067197 G T SNP APBA1 ENST00000265381 human ensembl 74_37 -1 known silent c.1809 p.S603 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA1 HGNC ENSG00000107282 105 0 0 57 13 18.5714 KLF9 0 genome.wustl.edu 37 9 73002896 73002896 + Nonsense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 73002896 73002896 C T SNP KLF9 ENST00000377126 human ensembl 74_37 -1 known nonsense c.531 p.W177* 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF9 HGNC ENSG00000119138 46 0 0 37 6 13.9535 PRUNE2 0 genome.wustl.edu 37 9 79325430 79325430 + Missense_Mutation SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 79325430 79325430 A G SNP PRUNE2 ENST00000428286 human ensembl 74_37 -1 known missense c.683 p.L228P 0.822 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 46 0 0 42 5 10.6383 VPS13A 0 genome.wustl.edu 37 9 79853105 79853105 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 79853105 79853105 G A SNP VPS13A ENST00000360280 human ensembl 74_37 +1 known missense c.1783 p.A595T 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 78 0 0 69 7 9.21053 DAPK1 0 genome.wustl.edu 37 9 90321730 90321730 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 90321730 90321730 C T SNP DAPK1 ENST00000469640 human ensembl 74_37 +1 known silent c.3819 p.P1273 0.016 NULL pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 74 0 0 36 12 25 SEMA4D 0 genome.wustl.edu 37 9 92003641 92003641 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 92003641 92003641 G A SNP SEMA4D ENST00000356444 human ensembl 74_37 -1 known silent c.1017 p.H339 0.032 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,pfam_Immunoglobulin,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4D HGNC ENSG00000187764 48 0 0 41 10 19.6078 ROR2 0 genome.wustl.edu 37 9 94493365 94493365 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 94493365 94493365 C T SNP ROR2 ENST00000375708 human ensembl 74_37 -1 known missense c.1010 p.C337Y 1.000 pirsf_Tyr_kinase_rcpt_ROR,pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors ROR2 HGNC ENSG00000169071 93 0 0 60 13 17.8082 IARS 0 genome.wustl.edu 37 9 95013120 95013120 + RNA SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 95013120 95013120 T C SNP IARS ENST00000467876 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors IARS HGNC ENSG00000196305 74 0 0 47 17 26.5625 DMRT3 0 genome.wustl.edu 37 9 990661 990661 + Nonsense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 990661 990661 C T SNP DMRT3 ENST00000190165 human ensembl 74_37 +1 known nonsense c.1075 p.Q359* 1.000 NULL pfam_DM_DNA-bd,pfam_DMA,superfamily_DM_DNA-bd,superfamily_UBA-like,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRT3 HGNC ENSG00000064218 98 0 0 91 13 12.5 CDC14B 0 genome.wustl.edu 37 9 99284796 99284796 + Silent SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 99284796 99284796 A G SNP CDC14B ENST00000375241 human ensembl 74_37 -1 known silent c.1335 p.I445 0.873 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors CDC14B HGNC ENSG00000081377 84 0 0 55 17 23.6111 TRMT2B 0 genome.wustl.edu 37 X 100277016 100277016 + Missense_Mutation SNP T T A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb X 100277016 100277016 T A SNP TRMT2B ENST00000372935 human ensembl 74_37 -1 known missense c.792 p.E264D 0.997 NULL pfam_U5_MeTrfase,pfam_Small_mtfrase_dom - no_errors TRMT2B HGNC ENSG00000188917 55 0 0 25 12 32.4324 HNRNPH2 0 genome.wustl.edu 37 X 100667763 100667763 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb X 100667763 100667763 G A SNP HNRNPH2 ENST00000316594 human ensembl 74_37 +1 known missense c.787 p.D263N 1.000 pfam_Znf_CHHC pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPH2 HGNC ENSG00000126945 60 0 0 27 27 50 RAB40AL 0 genome.wustl.edu 37 X 102192725 102192725 + Missense_Mutation SNP A A T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb X 102192725 102192725 A T SNP RAB40AL ENST00000218249 human ensembl 74_37 +1 known missense c.479 p.N160I 1.000 pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB40AL HGNC ENSG00000102128 48 0 0 19 16 45.7143 NGFRAP1 0 genome.wustl.edu 37 X 102632690 102632690 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb X 102632690 102632690 C T SNP NGFRAP1 ENST00000299872 human ensembl 74_37 +1 known missense c.271 p.R91C 1.000 pfam_TF_A-like/BEX-like,pirsf_BEX pfam_TF_A-like/BEX-like,pirsf_BEX - no_errors NGFRAP1 HGNC ENSG00000166681 108 0 0 48 16 25 COL4A5 0 genome.wustl.edu 37 X 107867547 107867547 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb X 107867547 107867547 G A SNP COL4A5 ENST00000328300 human ensembl 74_37 +1 known missense c.2999 p.G1000E 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 22 0 0 13 3 18.75 SMARCA1 0 genome.wustl.edu 37 X 128615070 128615070 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb X 128615070 128615070 G A SNP SMARCA1 ENST00000371122 human ensembl 74_37 -1 known silent c.2310 p.S770 0.857 pfam_ISWI_HAND-dom,superfamily_ISWI_HAND-dom pfam_SNF2_N,pfam_SLIDE,pfam_ISWI_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,superfamily_ISWI_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA1 HGNC ENSG00000102038 31 0 0 26 4 13.3333 ZDHHC9 0 genome.wustl.edu 37 X 128975838 128975838 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb X 128975838 128975838 G A SNP ZDHHC9 ENST00000357166 human ensembl 74_37 -1 known silent c.84 p.R28 0.001 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC9 HGNC ENSG00000188706 116 0 0 58 28 32.5581 VGLL1 0 genome.wustl.edu 37 X 135631047 135631047 + Missense_Mutation SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb X 135631047 135631047 C A SNP VGLL1 ENST00000370634 human ensembl 74_37 +1 known missense c.514 p.L172I 0.226 NULL pfam_Vg_Tdu,smart_TDU_repeat - no_errors VGLL1 HGNC ENSG00000102243 131 0 0 42 41 49.3976 F9 0 genome.wustl.edu 37 X 138643010 138643010 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb X 138643010 138643010 C T SNP F9 ENST00000218099 human ensembl 74_37 +1 known silent c.834 p.V278 0.030 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_FX,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,pirsf_Pept_S1A_FX,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain - no_errors F9 HGNC ENSG00000101981 61 0 0 31 12 27.907 CSF2RA 0 genome.wustl.edu 37 X 1413263 1413263 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb X 1413263 1413263 C T SNP CSF2RA ENST00000417535 human ensembl 74_37 +1 known missense c.689 p.T230M 0.000 superfamily_Fibronectin_type3 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors CSF2RA HGNC ENSG00000198223 274 0 0 204 29 12.4464 SLC25A6 0 genome.wustl.edu 37 X 1506203 1506203 + Silent SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb X 1506203 1506203 C T SNP SLC25A6 ENST00000381401 human ensembl 74_37 -1 known silent c.708 p.R236 0.993 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor,prints_Mit_uncoupling - no_errors SLC25A6 HGNC ENSG00000169100 169 0 0 98 35 26.3158 ENSG00000266560 0 genome.wustl.edu 37 X 151283727 151283727 + RNA SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb X 151283727 151283727 T C SNP ENSG00000266560 ENST00000509345 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-1007I13.4 Clone_based_vega_gene ENSG00000266560 93 0 0 45 23 33.8235 FAM58A 0 genome.wustl.edu 37 X 152858040 152858040 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb X 152858040 152858040 G A SNP FAM58A ENST00000406277 human ensembl 74_37 -1 known missense c.575 p.A192V 1.000 superfamily_Cyclin-like,smart_Cyclin-like pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors FAM58A HGNC ENSG00000147382 28 0 0 15 15 50 HCFC1 0 genome.wustl.edu 37 X 153220523 153220523 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb X 153220523 153220523 G A SNP HCFC1 ENST00000310441 human ensembl 74_37 -1 known silent c.3327 p.C1109 0.863 NULL pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 34 0 0 7 3 30 ASMT 0 genome.wustl.edu 37 X 1734120 1734120 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb X 1734120 1734120 C T SNP ASMT ENST00000381241 human ensembl 74_37 +1 known missense c.28 p.R10C 0.003 pirsf_COMT pfam_O_MeTrfase_2,pirsf_COMT - no_errors ASMT HGNC ENSG00000196433 22 0 0 11 3 21.4286 PLCXD1 0 genome.wustl.edu 37 X 215824 215824 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb X 215824 215824 C T SNP PLCXD1 ENST00000381657 human ensembl 74_37 +1 known missense c.794 p.P265L 0.995 superfamily_PLC-like_Pdiesterase_TIM-brl 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 85 0 0 71 11 13.4146 PCYT1B 0 genome.wustl.edu 37 X 24593350 24593350 + Missense_Mutation SNP T T C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb X 24593350 24593350 T C SNP PCYT1B ENST00000379144 human ensembl 74_37 -1 known missense c.794 p.N265S 0.979 NULL pfam_Cyt_trans-like,tigrfam_Cyt_trans-like - no_errors PCYT1B HGNC ENSG00000102230 50 0 0 29 10 25.641 MAGEB10 0 genome.wustl.edu 37 X 27839447 27839447 + Silent SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb X 27839447 27839447 A G SNP MAGEB10 ENST00000356790 human ensembl 74_37 +1 known silent c.24 p.K8 0.001 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB10 HGNC ENSG00000177689 51 0 0 33 6 15.3846 ARSF 0 genome.wustl.edu 37 X 2998955 2998955 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb X 2998955 2998955 C T SNP ARSF ENST00000359361 human ensembl 74_37 +1 known missense c.307 p.R103C 0.577 pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ARSF HGNC ENSG00000062096 32 0 0 17 21 55.2632 ELK1 0 genome.wustl.edu 37 X 47509930 47509930 + RNA SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb X 47509930 47509930 G A SNP ELK1 ENST00000468956 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors ELK1 HGNC ENSG00000126767 16 0 0 6 7 53.8462 FGD1 0 genome.wustl.edu 37 X 54491964 54491964 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb X 54491964 54491964 C T SNP FGD1 ENST00000375135 human ensembl 74_37 -1 known missense c.1556 p.R519H 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD1 HGNC ENSG00000102302 27 0 0 6 4 40 PFKFB1 0 genome.wustl.edu 37 X 54964064 54964064 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb X 54964064 54964064 G A SNP PFKFB1 ENST00000375006 human ensembl 74_37 -1 known missense c.1192 p.R398W 1.000 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB1 HGNC ENSG00000158571 42 0 0 13 12 48 ZXDB 0 genome.wustl.edu 37 X 57620221 57620221 + Silent SNP T T G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb X 57620221 57620221 T G SNP ZXDB ENST00000374888 human ensembl 74_37 +1 known silent c.1740 p.A580 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZXDB HGNC ENSG00000198455 89 0 0 64 5 7.24638 NLGN4X 0 genome.wustl.edu 37 X 5821684 5821684 + Silent SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb X 5821684 5821684 G A SNP NLGN4X ENST00000381093 human ensembl 74_37 -1 known silent c.1095 p.D365 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 84 0 0 44 6 12 SPIN4 0 genome.wustl.edu 37 X 62570234 62570234 + Silent SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb X 62570234 62570234 G T SNP SPIN4 ENST00000335144 human ensembl 74_37 -1 known silent c.465 p.T155 0.999 pfam_Spin_Ssty pfam_Spin_Ssty - no_errors SPIN4 HGNC ENSG00000186767 90 0 0 28 38 57.5758 ARHGEF9 0 genome.wustl.edu 37 X 62893974 62893974 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb X 62893974 62893974 G A SNP ARHGEF9 ENST00000253401 human ensembl 74_37 -1 known missense c.868 p.R290C 1.000 superfamily_DH-domain pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF9 HGNC ENSG00000131089 60 0 0 37 4 9.7561 EDA2R 0 genome.wustl.edu 37 X 65822496 65822496 + Missense_Mutation SNP A A C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb X 65822496 65822496 A C SNP EDA2R ENST00000253392 human ensembl 74_37 -1 known missense c.496 p.F166V 0.992 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_27 - no_errors EDA2R HGNC ENSG00000131080 13 0 0 7 6 46.1538 AR 0 genome.wustl.edu 37 X 66765161 66765161 + Missense_Mutation SNP A A T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb X 66765161 66765161 A T SNP AR ENST00000374690 human ensembl 74_37 +1 known missense c.173 p.Q58L 0.920 pfam_Andrgn_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 28 0 0 18 7 28 EFNB1 0 genome.wustl.edu 37 X 68059551 68059551 + Missense_Mutation SNP G G A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb X 68059551 68059551 G A SNP EFNB1 ENST00000204961 human ensembl 74_37 +1 known missense c.451 p.G151S 1.000 pfam_Ephrin,superfamily_Cupredoxin pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNB1 HGNC ENSG00000090776 26 0 0 12 5 29.4118 CDX4 0 genome.wustl.edu 37 X 72667577 72667577 + Missense_Mutation SNP C C T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb X 72667577 72667577 C T SNP CDX4 ENST00000373514 human ensembl 74_37 +1 known missense c.488 p.T163M 0.988 pfam_Caudal_activation_dom pfam_Caudal_activation_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors CDX4 HGNC ENSG00000131264 46 0 0 26 11 29.7297 XIST 0 genome.wustl.edu 37 X 73061420 73061420 + RNA SNP C C A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb X 73061420 73061420 C A SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors XIST HGNC ENSG00000229807 43 0 0 14 13 48.1481 XIST 0 genome.wustl.edu 37 X 73071163 73071163 + RNA SNP A A G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb X 73071163 73071163 A G SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 115 0 0 45 38 45.7831 PCDH11Y 0 genome.wustl.edu 37 Y 4967202 4967202 + Missense_Mutation SNP G G T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb Y 4967202 4967202 G T SNP PCDH11Y ENST00000215473 human ensembl 74_37 +1 known missense c.1583 p.G528V 0.971 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11Y HGNC ENSG00000099715 59 0 0 36 9 20 COL11A1 0 genome.wustl.edu 37 1 103474067 103474067 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 103474067 103474067 C - DEL COL11A1 ENST00000358392 human ensembl 74_37 -1 known frame_shift_del c.1671 p.P558fs 0.000 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 COL11A1 HGNC ENSG00000060718 104 0 0 89 8 8.24742 CELSR2 0 genome.wustl.edu 37 1 109793887 109793888 + Frame_Shift_Ins INS - - C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 109793887 109793888 - C INS CELSR2 ENST00000271332 human ensembl 74_37 +1 known frame_shift_ins c.1186_1187 p.Q398fs 0.800:0.913 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 119 0 0 84 13 13.4021 EPS8L3 0 genome.wustl.edu 37 1 110300580 110300580 + Frame_Shift_Del DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 110300580 110300580 T - DEL EPS8L3 ENST00000369805 human ensembl 74_37 -1 known frame_shift_del c.821 p.N274fs 0.352 NULL pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8L3 HGNC ENSG00000198758 192 0 0 100 26 20.6349 MTOR 0 genome.wustl.edu 37 1 11192968 11192968 + RNA DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 11192968 11192968 G - DEL MTOR ENST00000495435 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MTOR HGNC ENSG00000198793 22 0 0 14 5 26.3158 TXNIP 0 genome.wustl.edu 37 1 145438750 145438750 + RNA DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 145438750 145438750 T - DEL TXNIP ENST00000475171 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TXNIP HGNC ENSG00000117289 50 0 0 43 6 12.2449 ANKRD34A 0 genome.wustl.edu 37 1 145473439 145473439 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 145473439 145473439 G - DEL ANKRD34A ENST00000323397 human ensembl 74_37 +1 known frame_shift_del c.111 p.E39fs 0.980 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD34A HGNC ENSG00000181039 146 0 0 136 11 7.48299 BCL9 0 genome.wustl.edu 37 1 147091500 147091501 + Frame_Shift_Ins INS - - C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 147091500 147091501 - C INS BCL9 ENST00000234739 human ensembl 74_37 +1 known frame_shift_ins c.1539_1540 p.P516fs 1.000:1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 206 0 0 169 11 6.11111 SNAPIN 0 genome.wustl.edu 37 1 153633753 153633753 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 153633753 153633753 C - DEL SNAPIN ENST00000368685 human ensembl 74_37 +1 known frame_shift_del c.387 p.P131fs 0.998 pirsf_Snapin pirsf_Snapin - no_errors SNAPIN HGNC ENSG00000143553 81 0 0 73 6 7.59494 PYGO2 0 genome.wustl.edu 37 1 154932027 154932028 + Frame_Shift_Ins INS - - G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 154932027 154932028 - G INS PYGO2 ENST00000368457 human ensembl 74_37 -1 known frame_shift_ins c.449_448 p.Q150fs 1.000:0.997 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PYGO2 HGNC ENSG00000163348 120 0 0 95 13 12.037 FDPS 0 genome.wustl.edu 37 1 155288501 155288502 + Frame_Shift_Ins INS - - CC TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 155288501 155288502 - CC INS FDPS ENST00000356657 human ensembl 74_37 +1 known frame_shift_ins c.730_731 p.Q246fs 0.991:0.995 pfam_Polyprenyl_synt,superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors FDPS HGNC ENSG00000160752 97 0 0 65 6 8.4507 NES 0 genome.wustl.edu 37 1 156642739 156642740 + Frame_Shift_Del DEL AG AG - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 156642739 156642740 AG - DEL NES ENST00000368223 human ensembl 74_37 -1 known frame_shift_del c.1241_1240 p.L414fs 0.000:0.000 NULL pfam_IF - no_errors NES HGNC ENSG00000132688 174 0 0 115 22 16.0584 CD84 0 genome.wustl.edu 37 1 160520868 160520869 + RNA INS - - T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 160520868 160520869 - T INS CD84 ENST00000466767 human ensembl 74_37 -1 known rna NULL NULL 0.010:0.000 - - - no_errors CD84 HGNC ENSG00000066294 93 0 0 62 11 15.0685 EPHA2 0 genome.wustl.edu 37 1 16462199 16462199 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 16462199 16462199 G - DEL EPHA2 ENST00000358432 human ensembl 74_37 -1 known frame_shift_del c.1379 p.P460fs 0.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA2 HGNC ENSG00000142627 161 0 0 107 12 10.084 ALDH9A1 0 genome.wustl.edu 37 1 165634376 165634376 + RNA DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 165634376 165634376 A - DEL ALDH9A1 ENST00000463610 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors ALDH9A1 HGNC ENSG00000143149 32 0 0 30 4 11.7647 PIGC 0 genome.wustl.edu 37 1 172411516 172411516 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 172411516 172411516 G - DEL PIGC ENST00000258324 human ensembl 74_37 -1 known frame_shift_del c.247 p.H83fs 0.172 pfam_Plno_GlcNAc_GPI2,pirsf_Plno_GlcNAc_GPI2 pfam_Plno_GlcNAc_GPI2,pirsf_Plno_GlcNAc_GPI2 - no_errors PIGC HGNC ENSG00000135845 123 0 0 77 14 15.3846 ATP13A2 0 genome.wustl.edu 37 1 17322499 17322499 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 17322499 17322499 C - DEL ATP13A2 ENST00000326735 human ensembl 74_37 -1 known frame_shift_del c.1514 p.G505fs 1.000 tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A2 HGNC ENSG00000159363 97 0 0 55 8 12.6984 SLC9C2 0 genome.wustl.edu 37 1 173551149 173551150 + Splice_Site INS - - A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 173551149 173551150 - A INS SLC9C2 ENST00000367714 human ensembl 74_37 -1 known splice_site_ins c.641-3_641-2 e6-2 0.657:0.060 - - - no_errors SLC9C2 HGNC ENSG00000162753 37 0 0 19 8 29.6296 RASAL2 0 genome.wustl.edu 37 1 178412041 178412041 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 178412041 178412041 A - DEL RASAL2 ENST00000367649 human ensembl 74_37 +1 known frame_shift_del c.1159 p.K389fs 1.000 superfamily_C2_dom,smart_C2_dom pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors RASAL2 HGNC ENSG00000075391 136 1 0.729927 74 22 22.9167 GABRD 0 genome.wustl.edu 37 1 1961598 1961598 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 1961598 1961598 G - DEL GABRD ENST00000378585 human ensembl 74_37 +1 known frame_shift_del c.1236 p.G414fs 0.000 superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAd_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRD HGNC ENSG00000187730 157 0 0 117 10 7.87402 SKI 0 genome.wustl.edu 37 1 2160472 2160474 + In_Frame_Del DEL CTT CTT - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 2160472 2160474 CTT - DEL SKI ENST00000378536 human ensembl 74_37 +1 known in_frame_del c.267_269 p.F91in_frame_del 1.000:1.000:1.000 pfam_Transform_Ski,superfamily_DNA-bd_dom_put pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put - no_errors SKI HGNC ENSG00000157933 34 0 0 31 4 11.4286 TGFB2 0 genome.wustl.edu 37 1 218609371 218609371 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 218609371 218609371 A - DEL TGFB2 ENST00000366929 human ensembl 74_37 +1 known frame_shift_del c.898 p.N302fs 1.000 pirsf_TGF-beta,prints_TGFb2 pirsf_TGF-beta,pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_TGFb2,prints_TGF-beta - no_errors TGFB2 HGNC ENSG00000092969 91 0 0 72 12 14.2857 PARP1 0 genome.wustl.edu 37 1 226567647 226567647 + Frame_Shift_Del DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 226567647 226567647 T - DEL PARP1 ENST00000366794 human ensembl 74_37 -1 known frame_shift_del c.1519 p.S507fs 1.000 pirsf_NAD_ADPRT pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_Znf_PARP,pfam_PADR1,pfam_WGR_domain,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_WGR_domain,pirsf_NAD_ADPRT,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP1 HGNC ENSG00000143799 228 0 0 164 34 17.1717 ARID4B 0 genome.wustl.edu 37 1 235345419 235345419 + Frame_Shift_Del DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 235345419 235345419 T - DEL ARID4B ENST00000264183 human ensembl 74_37 -1 known frame_shift_del c.2815 p.T939fs 1.000 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4B HGNC ENSG00000054267 153 0 0 105 20 16 ASAP3 0 genome.wustl.edu 37 1 23779231 23779231 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 23779231 23779231 G - DEL ASAP3 ENST00000336689 human ensembl 74_37 -1 known frame_shift_del c.382 p.L128fs 1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ASAP3 HGNC ENSG00000088280 297 0 0 240 13 5.13834 TCEB3 0 genome.wustl.edu 37 1 24078202 24078203 + Frame_Shift_Del DEL AA AA - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 24078202 24078203 AA - DEL TCEB3 ENST00000418390 human ensembl 74_37 +1 known frame_shift_del c.1185_1186 p.K396fs 0.008:0.204 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom - no_errors TCEB3 HGNC ENSG00000011007 176 0 0 117 20 14.5985 ARID1A 0 genome.wustl.edu 37 1 27088659 27088659 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 27088659 27088659 C - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.2268 p.Q758fs 0.998 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 175 0 0 137 22 13.8365 ARID1A 0 genome.wustl.edu 37 1 27106078 27106078 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 27106078 27106078 C - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.5689 p.P1898fs 0.966 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 166 0 0 110 13 10.5691 C1orf172 0 genome.wustl.edu 37 1 27278443 27278443 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 27278443 27278443 G - DEL C1orf172 ENST00000320567 human ensembl 74_37 -1 known frame_shift_del c.429 p.S144fs 0.427 NULL NULL - no_errors C1orf172 HGNC ENSG00000175707 71 0 0 52 11 17.4603 WDTC1 0 genome.wustl.edu 37 1 27621108 27621109 + Frame_Shift_Del DEL GG GG - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 27621108 27621109 GG - DEL WDTC1 ENST00000319394 human ensembl 74_37 +1 known frame_shift_del c.861_862 p.E290fs 1.000:1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDTC1 HGNC ENSG00000142784 67 0 0 45 6 11.7647 PHACTR4 0 genome.wustl.edu 37 1 28800273 28800273 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 28800273 28800273 C - DEL PHACTR4 ENST00000373836 human ensembl 74_37 +1 known frame_shift_del c.1061 p.P356fs 1.000 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR4 HGNC ENSG00000204138 248 1 0.401606 199 43 17.7686 MEGF6 0 genome.wustl.edu 37 1 3418429 3418429 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 3418429 3418429 C - DEL MEGF6 ENST00000356575 human ensembl 74_37 -1 known frame_shift_del c.2245 p.A749fs 0.930 smart_EG-like_dom,smart_EGF_laminin pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF6 HGNC ENSG00000162591 62 0 0 43 5 10.4167 DLGAP3 0 genome.wustl.edu 37 1 35365852 35365852 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 35365852 35365852 C - DEL DLGAP3 ENST00000235180 human ensembl 74_37 -1 known frame_shift_del c.1130 p.G377fs 1.000 NULL pfam_GKAP - no_errors DLGAP3 HGNC ENSG00000116544 204 1 0.487805 144 25 14.7929 ENSG00000271554 0 genome.wustl.edu 37 1 36475027 36475027 + RNA DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 36475027 36475027 A - DEL ENSG00000271554 ENST00000479395 human ensembl 74_37 -1 known rna NULL NULL 0.011 - - - no_errors RP4-665N4.8 Clone_based_vega_gene ENSG00000271554 41 0 0 25 14 35.8974 LRRC41 0 genome.wustl.edu 37 1 46726877 46726877 + RNA DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 46726877 46726877 T - DEL LRRC41 ENST00000496156 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors LRRC41 HGNC ENSG00000132128 37 0 0 20 6 23.0769 CDKN2C 0 genome.wustl.edu 37 1 51436083 51436084 + Frame_Shift_Ins INS - - G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 51436083 51436084 - G INS CDKN2C ENST00000262662 human ensembl 74_37 +1 known frame_shift_ins c.43_44 p.D17fs 1.000:1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CDKN2C HGNC ENSG00000123080 111 0 0 67 7 9.45946 NRD1 0 genome.wustl.edu 37 1 52260252 52260254 + In_Frame_Del DEL CTC CTC - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 52260252 52260254 CTC - DEL NRD1 ENST00000354831 human ensembl 74_37 -1 known in_frame_del c.2871_2869 p.E957in_frame_del 1.000:1.000:1.000 pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors NRD1 HGNC ENSG00000078618 443 0 0 383 25 6.12745 ZCCHC11 0 genome.wustl.edu 37 1 52991779 52991780 + Frame_Shift_Ins INS - - T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 52991779 52991780 - T INS ZCCHC11 ENST00000257177 human ensembl 74_37 -1 known frame_shift_ins c.174_173 p.N58fs 1.000:0.998 NULL pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC11 HGNC ENSG00000134744 71 0 0 51 8 13.5593 CPT2 0 genome.wustl.edu 37 1 53676936 53676938 + In_Frame_Del DEL GAT GAT - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 GAT GAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 53676936 53676938 GAT - DEL CPT2 ENST00000371486 human ensembl 74_37 +1 known in_frame_del c.1590_1592 p.M532in_frame_del 0.003:0.016:0.999 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT2 HGNC ENSG00000157184 37 0 0 17 4 19.0476 GLIS1 0 genome.wustl.edu 37 1 54060232 54060232 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 54060232 54060232 C - DEL GLIS1 ENST00000312233 human ensembl 74_37 -1 known frame_shift_del c.344 p.G115fs 0.059 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS1 HGNC ENSG00000174332 77 0 0 51 4 7.27273 INADL 0 genome.wustl.edu 37 1 62263064 62263066 + In_Frame_Del DEL TCA TCA - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 TCA TCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 62263064 62263066 TCA - DEL INADL ENST00000371158 human ensembl 74_37 +1 known in_frame_del c.1366_1368 p.S457in_frame_del 0.001:0.000:0.000 superfamily_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors INADL HGNC ENSG00000132849 135 0 0 103 21 16.9355 SLC45A1 0 genome.wustl.edu 37 1 8390339 8390339 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 8390339 8390339 G - DEL SLC45A1 ENST00000377479 human ensembl 74_37 +1 known frame_shift_del c.888 p.G298fs 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A1 HGNC ENSG00000162426 209 0 0 146 11 7.00637 SLC2A5 0 genome.wustl.edu 37 1 9107765 9107766 + Frame_Shift_Del DEL AT AT - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 9107765 9107766 AT - DEL SLC2A5 ENST00000377424 human ensembl 74_37 -1 known frame_shift_del c.322_321 p.S109fs 1.000:0.996 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Fru_transpt_5,tigrfam_Sugar/inositol_transpt - no_errors SLC2A5 HGNC ENSG00000142583 157 0 0 107 29 21.3235 RWDD3 0 genome.wustl.edu 37 1 95710260 95710260 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 1 95710260 95710260 A - DEL RWDD3 ENST00000263893 human ensembl 74_37 +1 known frame_shift_del c.579 p.S195fs 0.152 NULL pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain - no_errors RWDD3 HGNC ENSG00000122481 142 0 0 117 23 16.4286 TCF7L2 0 genome.wustl.edu 37 10 114925402 114925402 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 114925402 114925402 C - DEL TCF7L2 ENST00000355995 human ensembl 74_37 +1 known frame_shift_del c.1531 p.S513fs 1.000 NULL pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TCF7L2 HGNC ENSG00000148737 204 0 0 150 20 11.7647 VAX1 0 genome.wustl.edu 37 10 118896159 118896160 + Frame_Shift_Ins INS - - C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 118896159 118896160 - C INS VAX1 ENST00000369206 human ensembl 74_37 -1 known frame_shift_ins c.253_252 p.S84fs 1.000:0.994 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors VAX1 HGNC ENSG00000148704 89 0 0 69 7 9.21053 OAT 0 genome.wustl.edu 37 10 126091634 126091634 + RNA DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 126091634 126091634 A - DEL OAT ENST00000471127 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors OAT HGNC ENSG00000065154 157 0 0 115 21 15.4412 RPP38 0 genome.wustl.edu 37 10 15146144 15146145 + Frame_Shift_Ins INS - - A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 15146144 15146145 - A INS RPP38 ENST00000378197 human ensembl 74_37 +1 known frame_shift_ins c.831_832 p.A279fs 0.999:1.000 NULL pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors RPP38 HGNC ENSG00000152464 110 0 0 70 18 20.4545 CREM 0 genome.wustl.edu 37 10 35500573 35500574 + RNA INS - - T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 35500573 35500574 - T INS CREM ENST00000469517 human ensembl 74_37 +1 known rna NULL NULL 0.791:0.580 - - - no_errors CREM HGNC ENSG00000095794 78 0 0 36 13 26.5306 ENSG00000235939 0 genome.wustl.edu 37 10 50680934 50680934 + RNA DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 50680934 50680934 A - DEL ENSG00000235939 ENST00000423283 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-123B3.2 Clone_based_vega_gene ENSG00000235939 36 0 0 27 4 12.9032 MBL2 0 genome.wustl.edu 37 10 54530515 54530516 + Frame_Shift_Ins INS - - G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 54530515 54530516 - G INS MBL2 ENST00000373968 human ensembl 74_37 -1 known frame_shift_ins c.219_218 p.G74fs 1.000:1.000 pfam_Collagen pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors MBL2 HGNC ENSG00000165471 245 0 0 160 35 17.9487 HERC4 0 genome.wustl.edu 37 10 69716603 69716605 + RNA DEL AAA AAA - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 69716603 69716605 AAA - DEL HERC4 ENST00000480158 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000:0.000 - - - no_errors HERC4 HGNC ENSG00000148634 68 0 0 39 11 22 PRF1 0 genome.wustl.edu 37 10 72358189 72358189 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 72358189 72358189 C - DEL PRF1 ENST00000373209 human ensembl 74_37 -1 known frame_shift_del c.1288 p.D430fs 0.999 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_MACPF,pfam_C2_dom,superfamily_C2_dom,smart_MACPF,smart_C2_dom,pfscan_C2_dom - no_errors PRF1 HGNC ENSG00000180644 81 0 0 56 9 13.8462 ZSWIM8 0 genome.wustl.edu 37 10 75560546 75560547 + RNA DEL CC CC - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 CC CC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 75560546 75560547 CC - DEL ZSWIM8 ENST00000603195 human ensembl 74_37 +1 known rna NULL NULL 0.749:0.797 - - - no_errors ZSWIM8 HGNC ENSG00000214655 29 0 0 18 4 18.1818 PLAU 0 genome.wustl.edu 37 10 75673437 75673438 + Frame_Shift_Ins INS - - G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 75673437 75673438 - G INS PLAU ENST00000372764 human ensembl 74_37 +1 known frame_shift_ins c.601_602 p.S204fs 0.156:0.201 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Kringle,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PLAU HGNC ENSG00000122861 205 0 0 140 20 12.5 DUSP13 0 genome.wustl.edu 37 10 76868884 76868884 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 76868884 76868884 C - DEL DUSP13 ENST00000372702 human ensembl 74_37 -1 known frame_shift_del c.32 p.G11fs 0.019 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP13 HGNC ENSG00000079393 74 0 0 55 9 14.0625 SH2D4B 0 genome.wustl.edu 37 10 82369293 82369293 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 82369293 82369293 C - DEL SH2D4B ENST00000470604 human ensembl 74_37 +1 known frame_shift_del c.968 p.W325fs 0.972 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2D4B HGNC ENSG00000178217 210 0 0 156 19 10.8571 LRIT1 0 genome.wustl.edu 37 10 85997404 85997404 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 85997404 85997404 G - DEL LRIT1 ENST00000372105 human ensembl 74_37 -1 known frame_shift_del c.161 p.P54fs 0.992 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRIT1 HGNC ENSG00000148602 135 0 0 87 21 19.4444 LARP4B 0 genome.wustl.edu 37 10 890939 890939 + Frame_Shift_Del DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 890939 890939 T - DEL LARP4B ENST00000316157 human ensembl 74_37 -1 known frame_shift_del c.487 p.T163fs 1.000 pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC ENSG00000107929 103 0 0 79 23 22.549 MINPP1 0 genome.wustl.edu 37 10 89268174 89268174 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 89268174 89268174 A - DEL MINPP1 ENST00000371996 human ensembl 74_37 +1 known frame_shift_del c.719 p.N242fs 1.000 pfam_His_Pase_superF_clade-2,pirsf_Histidine_acid_Pase_euk pfam_His_Pase_superF_clade-2,pirsf_Histidine_acid_Pase_euk - no_errors MINPP1 HGNC ENSG00000107789 65 0 0 41 10 19.6078 HELLS 0 genome.wustl.edu 37 10 96352051 96352051 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 10 96352051 96352051 A - DEL HELLS ENST00000371332 human ensembl 74_37 +1 known frame_shift_del c.1971 p.R660fs 0.958 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELLS HGNC ENSG00000119969 75 0 0 56 7 11.1111 DDX10 0 genome.wustl.edu 37 11 108712180 108712180 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 108712180 108712180 A - DEL DDX10 ENST00000322536 human ensembl 74_37 +1 known frame_shift_del c.2224 p.I744fs 0.999 NULL 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 DDX10 HGNC ENSG00000178105 75 0 0 50 12 19.3548 LAYN 0 genome.wustl.edu 37 11 111425990 111425991 + Frame_Shift_Ins INS - - A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 111425990 111425991 - A INS LAYN ENST00000375615 human ensembl 74_37 +1 known frame_shift_ins c.657_658 p.T221fs 1.000:1.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors LAYN HGNC ENSG00000204381 62 0 0 46 7 13.2075 DSCAML1 0 genome.wustl.edu 37 11 117391911 117391911 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 117391911 117391911 C - DEL DSCAML1 ENST00000321322 human ensembl 74_37 -1 known frame_shift_del c.1327 p.A443fs 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 227 0 0 158 29 15.508 CCDC153 0 genome.wustl.edu 37 11 119061043 119061043 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 119061043 119061043 G - DEL CCDC153 ENST00000415318 human ensembl 74_37 -1 known frame_shift_del c.599 p.P200fs 1.000 NULL superfamily_t-SNARE - no_errors CCDC153 HGNC ENSG00000248712 206 1 0.483092 127 29 18.5897 SRPR 0 genome.wustl.edu 37 11 126137087 126137087 + Frame_Shift_Del DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 126137087 126137087 T - DEL SRPR ENST00000332118 human ensembl 74_37 -1 known frame_shift_del c.509 p.K170fs 0.991 pfam_Sig_recog_particle_rcpt_asu_N pfam_Sig_recog_particle_rcpt_asu_N,pfam_SRP54_GTPase_dom,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom - no_errors SRPR HGNC ENSG00000182934 354 1 0.28169 233 55 19.0972 MUC5B 0 genome.wustl.edu 37 11 1267481 1267481 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 1267481 1267481 C - DEL MUC5B ENST00000447027 human ensembl 74_37 +1 known frame_shift_del c.9380 p.S3129fs 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 142 0 0 107 13 10.8333 MUC5B 0 genome.wustl.edu 37 11 1271252 1271252 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 1271252 1271252 C - DEL MUC5B ENST00000447027 human ensembl 74_37 +1 known frame_shift_del c.13151 p.S4386fs 0.021 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 234 0 0 175 12 6.41711 SOX6 0 genome.wustl.edu 37 11 16339986 16339987 + RNA INS - - C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 16339986 16339987 - C INS SOX6 ENST00000533658 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors SOX6 HGNC ENSG00000110693 143 0 0 112 24 17.6471 GTF2H1 0 genome.wustl.edu 37 11 18373881 18373883 + In_Frame_Del DEL ATC ATC - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 ATC ATC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 18373881 18373883 ATC - DEL GTF2H1 ENST00000265963 human ensembl 74_37 +1 known in_frame_del c.1148_1150 p.H384in_frame_del 1.000:0.976:1.000 NULL pfam_BSD,pfam_TFIIH_BTF_p62_N,smart_BSD,pfscan_BSD - no_errors GTF2H1 HGNC ENSG00000110768 236 0 0 163 36 18.0905 PRMT3 0 genome.wustl.edu 37 11 20515777 20515777 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 20515777 20515777 A - DEL PRMT3 ENST00000331079 human ensembl 74_37 +1 known frame_shift_del c.1463 p.K489fs 1.000 pfam_Arg_MeTrfase pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_mo5U34_MeTrfas-like,pfam_Methyltransf_11,pfam_Arg_MeTrfase,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors PRMT3 HGNC ENSG00000185238 242 0 0 170 18 9.57447 KCNA4 0 genome.wustl.edu 37 11 30033563 30033563 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 30033563 30033563 A - DEL KCNA4 ENST00000328224 human ensembl 74_37 -1 known frame_shift_del c.663 p.F221fs 0.902 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA4 HGNC ENSG00000182255 133 0 0 85 20 19.0476 EIF3M 0 genome.wustl.edu 37 11 32611130 32611130 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 32611130 32611130 A - DEL EIF3M ENST00000531120 human ensembl 74_37 +1 known frame_shift_del c.476 p.K161fs 1.000 superfamily_ARM-type_fold pfam_PCI_dom,superfamily_ARM-type_fold,smart_PCI_dom - no_errors EIF3M HGNC ENSG00000149100 119 0 0 84 13 13.4021 RAG2 0 genome.wustl.edu 37 11 36614195 36614195 + Frame_Shift_Del DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 36614195 36614195 T - DEL RAG2 ENST00000311485 human ensembl 74_37 -1 known frame_shift_del c.1524 p.G509fs 0.882 pfam_RAG2 pfam_RAG2,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_Znf_FYVE_PHD - no_errors RAG2 HGNC ENSG00000175097 101 0 0 55 17 23.6111 PEX16 0 genome.wustl.edu 37 11 45935924 45935924 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 45935924 45935924 G - DEL PEX16 ENST00000241041 human ensembl 74_37 -1 known frame_shift_del c.637 p.L213fs 0.983 pfam_Pex16 pfam_Pex16 - no_errors PEX16 HGNC ENSG00000121680 90 0 0 92 10 9.80392 OR51E2 0 genome.wustl.edu 37 11 4703475 4703475 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 4703475 4703475 A - DEL OR51E2 ENST00000396950 human ensembl 74_37 -1 known frame_shift_del c.467 p.F156fs 0.027 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51E2 HGNC ENSG00000167332 89 0 0 57 13 18.5714 CTNND1 0 genome.wustl.edu 37 11 57569589 57569589 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 57569589 57569589 A - DEL CTNND1 ENST00000399050 human ensembl 74_37 +1 known frame_shift_del c.1341 p.N449fs 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND1 HGNC ENSG00000198561 386 0 0 310 48 13.4078 FAM111B 0 genome.wustl.edu 37 11 58892722 58892725 + Frame_Shift_Del DEL AATT AATT - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 AATT AATT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 58892722 58892725 AATT - DEL FAM111B ENST00000343597 human ensembl 74_37 +1 known frame_shift_del c.1152_1155 p.N386fs 0.002:0.001:0.000:0.000 NULL superfamily_Trypsin-like_Pept_dom - no_errors FAM111B HGNC ENSG00000189057 169 0 0 113 12 9.6 FAM160A2 0 genome.wustl.edu 37 11 6245432 6245432 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 6245432 6245432 C - DEL FAM160A2 ENST00000265978 human ensembl 74_37 -1 known frame_shift_del c.185 p.G62fs 1.000 NULL pfam_RetinoicA-induced_16-like - no_errors FAM160A2 HGNC ENSG00000051009 107 0 0 97 8 7.61905 ENSG00000256690 0 genome.wustl.edu 37 11 62601418 62601418 + RNA DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 62601418 62601418 G - DEL ENSG00000256690 ENST00000535817 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-727F15.9 Clone_based_vega_gene ENSG00000256690 105 0 0 71 8 10.1266 MARK2 0 genome.wustl.edu 37 11 63667438 63667440 + In_Frame_Del DEL CTT CTT - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 63667438 63667440 CTT - DEL MARK2 ENST00000402010 human ensembl 74_37 +1 known in_frame_del c.624_626 p.F209in_frame_del 0.995:1.000:1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK2 HGNC ENSG00000072518 235 0 0 168 35 17.2414 BRMS1 0 genome.wustl.edu 37 11 66108714 66108714 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 66108714 66108714 C - DEL BRMS1 ENST00000425825 human ensembl 74_37 -1 known frame_shift_del c.321 p.L108fs 0.992 pfam_Sds3 pfam_Sds3 - no_errors BRMS1 HGNC ENSG00000174744 80 0 0 50 8 13.7931 NUMA1 0 genome.wustl.edu 37 11 71725049 71725050 + Frame_Shift_Del DEL AG AG - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 71725049 71725050 AG - DEL NUMA1 ENST00000393695 human ensembl 74_37 -1 known frame_shift_del c.3500_3499 p.L1167fs 0.003:0.001 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 80 0 0 57 8 12.3077 NDUFC2 0 genome.wustl.edu 37 11 77784147 77784148 + Frame_Shift_Del DEL AA AA - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 77784147 77784148 AA - DEL NDUFC2 ENST00000281031 human ensembl 74_37 -1 known frame_shift_del c.207_206 p.F69fs 0.809:0.834 pfam_NADH-UbQ_OxRdtase_b14.5b_su,pirsf_NADH-UbQ_OxRdtase_b14.5b_su pfam_NADH-UbQ_OxRdtase_b14.5b_su,pirsf_NADH-UbQ_OxRdtase_b14.5b_su - no_errors NDUFC2 HGNC ENSG00000151366 118 0 0 75 20 21.0526 ENSG00000254420 0 genome.wustl.edu 37 11 78154811 78154812 + RNA DEL AA AA - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 78154811 78154812 AA - DEL ENSG00000254420 ENST00000534168 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.006 - - - no_errors RP11-452H21.1 Clone_based_vega_gene ENSG00000254420 68 0 0 20 11 35.4839 TUB 0 genome.wustl.edu 37 11 8118863 8118863 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 8118863 8118863 C - DEL TUB ENST00000305253 human ensembl 74_37 +1 known frame_shift_del c.941 p.Q316fs 0.999 pfam_Tubby_C,superfamily_Tubby_C-like pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_N,prints_Tubby_C - no_errors TUB HGNC ENSG00000166402 189 1 0.526316 150 8 5.06329 TAF1D 0 genome.wustl.edu 37 11 93470382 93470382 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 11 93470382 93470382 A - DEL TAF1D ENST00000323981 human ensembl 74_37 -1 known frame_shift_del c.483 p.F161fs 0.999 NULL NULL - no_errors TAF1D HGNC ENSG00000166012 46 0 0 37 9 19.5652 TAOK3 0 genome.wustl.edu 37 12 118639156 118639157 + Frame_Shift_Ins INS - - T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 118639156 118639157 - T INS TAOK3 ENST00000392533 human ensembl 74_37 -1 known frame_shift_ins c.932_931 p.I311fs 1.000:1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TAOK3 HGNC ENSG00000135090 90 0 0 69 14 16.8675 CAMKK2 0 genome.wustl.edu 37 12 121678620 121678620 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 121678620 121678620 C - DEL CAMKK2 ENST00000324774 human ensembl 74_37 -1 known frame_shift_del c.1649 p.G550fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMKK2 HGNC ENSG00000110931 148 0 0 120 20 14.2857 BCL7A 0 genome.wustl.edu 37 12 122492892 122492892 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 122492892 122492892 G - DEL BCL7A ENST00000538010 human ensembl 74_37 +1 known frame_shift_del c.621 p.D209fs 0.000 NULL pfam_BCL7 - no_errors BCL7A HGNC ENSG00000110987 154 0 0 102 25 19.685 RPL22P19 0 genome.wustl.edu 37 12 125420367 125420367 + RNA DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 125420367 125420367 T - DEL RPL22P19 ENST00000480427 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RPL22P19 HGNC ENSG00000241129 18 0 0 2 3 60 GPR133 0 genome.wustl.edu 37 12 131623850 131623851 + RNA INS - - C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 131623850 131623851 - C INS GPR133 ENST00000540207 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors GPR133 HGNC ENSG00000111452 18 0 0 10 4 28.5714 PLCZ1 0 genome.wustl.edu 37 12 18854469 18854469 + Frame_Shift_Del DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 18854469 18854469 T - DEL PLCZ1 ENST00000266505 human ensembl 74_37 -1 known frame_shift_del c.983 p.K328fs 0.000 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCZ1 HGNC ENSG00000139151 126 0 0 79 12 13.1868 PLEKHA5 0 genome.wustl.edu 37 12 19460408 19460408 + RNA DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 19460408 19460408 A - DEL PLEKHA5 ENST00000510738 human ensembl 74_37 +1 known rna NULL NULL 0.931 - - - no_errors PLEKHA5 HGNC ENSG00000052126 40 0 0 25 7 21.875 ZCRB1 0 genome.wustl.edu 37 12 42706971 42706971 + Frame_Shift_Del DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 42706971 42706971 T - DEL ZCRB1 ENST00000266529 human ensembl 74_37 -1 known frame_shift_del c.552 p.K184fs 0.732 NULL pfam_RRM_dom,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_RRM_dom_euk,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom - no_errors ZCRB1 HGNC ENSG00000139168 51 0 0 37 6 13.9535 PUS7L 0 genome.wustl.edu 37 12 44148392 44148392 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 44148392 44148392 A - DEL PUS7L ENST00000344862 human ensembl 74_37 -1 known frame_shift_del c.657 p.F219fs 1.000 superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD - no_errors PUS7L HGNC ENSG00000129317 61 0 0 45 13 22.4138 KRT73 0 genome.wustl.edu 37 12 53001991 53001991 + Frame_Shift_Del DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 53001991 53001991 T - DEL KRT73 ENST00000305748 human ensembl 74_37 -1 known frame_shift_del c.1612 p.T538fs 0.738 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT73 HGNC ENSG00000186049 309 0 0 212 48 18.4615 KRT73 0 genome.wustl.edu 37 12 53012151 53012151 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 53012151 53012151 C - DEL KRT73 ENST00000305748 human ensembl 74_37 -1 known frame_shift_del c.158 p.G53fs 0.036 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT73 HGNC ENSG00000186049 230 0 0 153 27 15 TENC1 0 genome.wustl.edu 37 12 53452903 53452903 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 53452903 53452903 C - DEL TENC1 ENST00000314276 human ensembl 74_37 +1 known frame_shift_del c.1508 p.P505fs 0.202 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TENC1 HGNC ENSG00000111077 87 0 0 72 11 13.253 NAB2 0 genome.wustl.edu 37 12 57485491 57485491 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 57485491 57485491 G - DEL NAB2 ENST00000300131 human ensembl 74_37 +1 known frame_shift_del c.667 p.L225fs 0.957 pfam_NAB_co-repressor_dom pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed - no_errors NAB2 HGNC ENSG00000166886 91 0 0 53 23 30.2632 MBD6 0 genome.wustl.edu 37 12 57921732 57921732 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 57921732 57921732 G - DEL MBD6 ENST00000355673 human ensembl 74_37 +1 known frame_shift_del c.2338 p.G782fs 1.000 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 131 0 0 90 15 14.2857 XPOT 0 genome.wustl.edu 37 12 64812755 64812755 + Frame_Shift_Del DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 64812755 64812755 T - DEL XPOT ENST00000332707 human ensembl 74_37 +1 known frame_shift_del c.370 p.F126fs 1.000 pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPOT HGNC ENSG00000184575 146 0 0 113 19 14.3939 BEST3 0 genome.wustl.edu 37 12 70091534 70091534 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 70091534 70091534 A - DEL BEST3 ENST00000330891 human ensembl 74_37 -1 known frame_shift_del c.45 p.F15fs 1.000 NULL pfam_Bestrophin/UPF0187 - no_errors BEST3 HGNC ENSG00000127325 141 0 0 111 19 14.6154 TMEM19 0 genome.wustl.edu 37 12 72094768 72094768 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 72094768 72094768 G - DEL TMEM19 ENST00000266673 human ensembl 74_37 +1 known frame_shift_del c.1004 p.*337fs 0.149 NULL pfam_DUF92_TMEM19 - no_errors TMEM19 HGNC ENSG00000139291 210 0 0 174 29 14.2857 M6PR 0 genome.wustl.edu 37 12 9095102 9095102 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 9095102 9095102 C - DEL M6PR ENST00000000412 human ensembl 74_37 -1 known frame_shift_del c.621 p.F208fs 0.715 prints_Man_6_P_rcpt superfamily_Man6P_isomerase_rcpt-bd_dom,prints_Man_6_P_rcpt - no_errors M6PR HGNC ENSG00000003056 145 0 0 91 12 11.6505 NEDD1 0 genome.wustl.edu 37 12 97337434 97337434 + Frame_Shift_Del DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 12 97337434 97337434 T - DEL NEDD1 ENST00000557644 human ensembl 74_37 +1 known frame_shift_del c.1412 p.F472fs 0.976 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NEDD1 HGNC ENSG00000139350 96 0 0 82 20 19.6078 COL4A1 0 genome.wustl.edu 37 13 110838820 110838821 + Frame_Shift_Ins INS - - G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 13 110838820 110838821 - G INS COL4A1 ENST00000375820 human ensembl 74_37 -1 known frame_shift_ins c.1809_1808 p.G604fs 0.909:1.000 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 119 0 0 65 8 10.9589 RNF6 0 genome.wustl.edu 37 13 26788241 26788241 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 13 26788241 26788241 A - DEL RNF6 ENST00000346166 human ensembl 74_37 -1 known frame_shift_del c.1778 p.L593fs 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF6 HGNC ENSG00000127870 198 0 0 140 13 8.49673 DCLK1 0 genome.wustl.edu 37 13 36521570 36521571 + Frame_Shift_Ins INS - - A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 13 36521570 36521571 - A INS DCLK1 ENST00000360631 human ensembl 74_37 -1 known frame_shift_ins c.748_747 p.G249fs 1.000:1.000 pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK1 HGNC ENSG00000133083 60 0 0 40 6 13.0435 DCLK1 0 genome.wustl.edu 37 13 36686033 36686033 + Frame_Shift_Del DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 13 36686033 36686033 T - DEL DCLK1 ENST00000360631 human ensembl 74_37 -1 known frame_shift_del c.696 p.K232fs 1.000 pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK1 HGNC ENSG00000133083 138 0 0 97 25 20.4918 KBTBD6 0 genome.wustl.edu 37 13 41705321 41705322 + Frame_Shift_Ins INS - - C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 13 41705321 41705322 - C INS KBTBD6 ENST00000379485 human ensembl 74_37 -1 known frame_shift_ins c.1327_1326 p.R442fs 0.947:0.558 pfam_Kelch_1,smart_Kelch_1 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 195 0 0 116 16 12.1212 AKAP11 0 genome.wustl.edu 37 13 42874486 42874486 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 13 42874486 42874486 A - DEL AKAP11 ENST00000025301 human ensembl 74_37 +1 known frame_shift_del c.1604 p.N537fs 0.089 NULL NULL - no_errors AKAP11 HGNC ENSG00000023516 67 0 0 29 13 30.9524 GTF2F2 0 genome.wustl.edu 37 13 45781540 45781540 + RNA DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 13 45781540 45781540 T - DEL GTF2F2 ENST00000494087 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors GTF2F2 HGNC ENSG00000188342 30 0 0 22 8 26.6667 THSD1 0 genome.wustl.edu 37 13 52971621 52971622 + Frame_Shift_Ins INS - - C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 13 52971621 52971622 - C INS THSD1 ENST00000258613 human ensembl 74_37 -1 known frame_shift_ins c.767_766 p.V256fs 0.976:0.935 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD1 HGNC ENSG00000136114 102 0 0 85 9 9.57447 VPS36 0 genome.wustl.edu 37 13 52999942 52999942 + RNA DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 13 52999942 52999942 A - DEL VPS36 ENST00000492650 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors VPS36 HGNC ENSG00000136100 12 0 0 5 3 37.5 VPS36 0 genome.wustl.edu 37 13 53000038 53000038 + RNA DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 13 53000038 53000038 A - DEL VPS36 ENST00000492650 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors VPS36 HGNC ENSG00000136100 72 0 0 41 10 19.6078 RBM26 0 genome.wustl.edu 37 13 79940859 79940860 + Frame_Shift_Ins INS - - G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 13 79940859 79940860 - G INS RBM26 ENST00000438724 human ensembl 74_37 -1 known frame_shift_ins c.1044_1043 p.P349fs 0.999:1.000 NULL pfam_PWI_dom,superfamily_PWI_dom,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM26 HGNC ENSG00000139746 75 0 0 68 8 10.5263 OR4L1 0 genome.wustl.edu 37 14 20528881 20528881 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 20528881 20528881 A - DEL OR4L1 ENST00000315683 human ensembl 74_37 +1 known frame_shift_del c.678 p.K228fs 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR4L1 HGNC ENSG00000176246 176 1 0.564972 125 12 8.75912 ENSG00000258908 0 genome.wustl.edu 37 14 20943125 20943125 + RNA DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 20943125 20943125 T - DEL ENSG00000258908 ENST00000554678 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors RP11-203M5.8 Clone_based_vega_gene ENSG00000258908 94 0 0 50 9 15.2542 CDH24 0 genome.wustl.edu 37 14 23517514 23517514 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 23517514 23517514 G - DEL CDH24 ENST00000267383 human ensembl 74_37 -1 known frame_shift_del c.2135 p.P712fs 0.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH24 HGNC ENSG00000139880 139 0 0 74 30 28.8462 EFS 0 genome.wustl.edu 37 14 23829042 23829042 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 23829042 23829042 G - DEL EFS ENST00000216733 human ensembl 74_37 -1 known frame_shift_del c.645 p.I216fs 0.822 NULL pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors EFS HGNC ENSG00000100842 148 0 0 103 15 12.7119 STXBP6 0 genome.wustl.edu 37 14 25288406 25288408 + In_Frame_Del DEL AGG AGG - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 25288406 25288408 AGG - DEL STXBP6 ENST00000548369 human ensembl 74_37 -1 known in_frame_del c.140_138 p.L47in_frame_del 0.643:0.000:0.000 NULL pfam_Synaptobrevin,pfscan_Synaptobrevin - no_errors STXBP6 HGNC ENSG00000168952 127 0 0 84 8 8.69565 ARHGAP5 0 genome.wustl.edu 37 14 32562544 32562545 + Frame_Shift_Ins INS - - T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 32562544 32562545 - T INS ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known frame_shift_ins c.2669_2670 p.E893fs 1.000:0.999 NULL pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 90 0 0 54 8 12.9032 C14orf28 0 genome.wustl.edu 37 14 45369723 45369724 + Frame_Shift_Ins INS - - GG TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 45369723 45369724 - GG INS C14orf28 ENST00000325192 human ensembl 74_37 +1 known frame_shift_ins c.85_86 p.V33fs 1.000:1.000 NULL NULL - no_errors C14orf28 HGNC ENSG00000179476 112 0 0 82 6 6.81818 NIN 0 genome.wustl.edu 37 14 51237236 51237236 + Frame_Shift_Del DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 51237236 51237236 T - DEL NIN ENST00000245441 human ensembl 74_37 -1 known frame_shift_del c.1304 p.N435fs 0.975 NULL superfamily_tRNA-bd_arm,pfscan_EF_hand_dom - no_errors NIN HGNC ENSG00000100503 130 0 0 102 7 6.42202 SOCS4 0 genome.wustl.edu 37 14 55509878 55509879 + Frame_Shift_Ins INS - - A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 55509878 55509879 - A INS SOCS4 ENST00000339298 human ensembl 74_37 +1 known frame_shift_ins c.119_120 p.S43fs 0.997:0.413 NULL pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS4 HGNC ENSG00000180008 123 0 0 100 19 15.9664 FBXO34 0 genome.wustl.edu 37 14 55818555 55818555 + Frame_Shift_Del DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 55818555 55818555 T - DEL FBXO34 ENST00000313833 human ensembl 74_37 +1 known frame_shift_del c.1447 p.L485fs 0.997 NULL superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO34 HGNC ENSG00000178974 156 1 0.636943 95 18 15.9292 KTN1 0 genome.wustl.edu 37 14 56119760 56119761 + Frame_Shift_Ins INS - - A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 56119760 56119761 - A INS KTN1 ENST00000395309 human ensembl 74_37 +1 known frame_shift_ins c.2720_2721 p.A909fs 0.998:0.923 NULL NULL - no_errors KTN1 HGNC ENSG00000126777 98 0 0 62 13 17.3333 SYNE2 0 genome.wustl.edu 37 14 64494437 64494437 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 64494437 64494437 A - DEL SYNE2 ENST00000358025 human ensembl 74_37 +1 known frame_shift_del c.6640 p.N2215fs 1.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 77 0 0 68 13 16.0494 ZBTB1 0 genome.wustl.edu 37 14 64989787 64989787 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 64989787 64989787 A - DEL ZBTB1 ENST00000394712 human ensembl 74_37 +1 known frame_shift_del c.1565 p.K524fs 0.222 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB1 HGNC ENSG00000126804 228 0 0 183 37 16.8182 HSPA2 0 genome.wustl.edu 37 14 65007975 65007975 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 65007975 65007975 G - DEL HSPA2 ENST00000247207 human ensembl 74_37 +1 known frame_shift_del c.408 p.G138fs 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA2 HGNC ENSG00000126803 75 0 0 55 11 16.6667 HSPA2 0 genome.wustl.edu 37 14 65008766 65008766 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 65008766 65008766 C - DEL HSPA2 ENST00000247207 human ensembl 74_37 +1 known frame_shift_del c.1199 p.P401fs 1.000 pfam_Hsp_70_fam,prints_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA2 HGNC ENSG00000126803 135 0 0 97 8 7.61905 FUT8 0 genome.wustl.edu 37 14 66190982 66190983 + Frame_Shift_Ins INS - - A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 66190982 66190983 - A INS FUT8 ENST00000360689 human ensembl 74_37 +1 known frame_shift_ins c.1200_1201 p.R402fs 1.000:1.000 pirsf_Alpha1_6FUT_euk superfamily_SH3_domain,smart_SH3_domain,pirsf_Alpha1_6FUT_euk - no_errors FUT8 HGNC ENSG00000033170 83 0 0 52 14 21.2121 ENSG00000221060 0 genome.wustl.edu 37 14 70270922 70270922 + RNA DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 14 70270922 70270922 T - DEL ENSG00000221060 ENST00000408133 human ensembl 74_37 -1 novel rna NULL NULL 0.003 - - - no_errors SNORA11 RFAM ENSG00000221060 15 0 0 10 4 28.5714 LOC101927079 0 genome.wustl.edu 37 15 22332412 22332413 + RNA INS - - A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 22332412 22332413 - A INS LOC101927079 ENST00000558896 human ensembl 74_37 +1 known rna NULL NULL 0.686:0.693 - - - no_errors RP11-69H14.6 Clone_based_vega_gene ENSG00000259176 84 0 0 59 7 10.6061 HERC2 0 genome.wustl.edu 37 15 28483908 28483908 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 28483908 28483908 A - DEL HERC2 ENST00000261609 human ensembl 74_37 -1 known frame_shift_del c.3588 p.F1196fs 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 85 0 0 57 12 17.3913 BUB1B 0 genome.wustl.edu 37 15 40512768 40512768 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 40512768 40512768 A - DEL BUB1B ENST00000412359 human ensembl 74_37 +1 known frame_shift_del c.3003 p.D1003fs 0.976 NULL pfam_Mad3_BUB1_I,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I - no_errors BUB1B HGNC ENSG00000156970 137 0 0 103 18 14.876 TTBK2 0 genome.wustl.edu 37 15 43044744 43044745 + Frame_Shift_Ins INS - - A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 43044744 43044745 - A INS TTBK2 ENST00000267890 human ensembl 74_37 -1 known frame_shift_ins c.2700_2699 p.L900fs 1.000:1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTBK2 HGNC ENSG00000128881 149 1 0.666667 71 18 20.2247 TP53BP1 0 genome.wustl.edu 37 15 43733757 43733757 + Frame_Shift_Del DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 43733757 43733757 T - DEL TP53BP1 ENST00000382044 human ensembl 74_37 -1 known frame_shift_del c.3065 p.N1022fs 1.000 NULL pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC ENSG00000067369 167 0 0 138 21 13.2075 SLC12A1 0 genome.wustl.edu 37 15 48543854 48543854 + Frame_Shift_Del DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 48543854 48543854 T - DEL SLC12A1 ENST00000380993 human ensembl 74_37 +1 known frame_shift_del c.1829 p.F611fs 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A1 HGNC ENSG00000074803 48 0 0 38 8 17.3913 ENSG00000259241 0 genome.wustl.edu 37 15 51987960 51987962 + RNA DEL AAA AAA - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 51987960 51987962 AAA - DEL ENSG00000259241 ENST00000559918 human ensembl 74_37 -1 known rna NULL NULL 0.006:0.012:0.011 - - - no_errors RP11-313P18.2 Clone_based_vega_gene ENSG00000259241 14 0 0 9 7 43.75 PRTG 0 genome.wustl.edu 37 15 55912892 55912892 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 55912892 55912892 A - DEL PRTG ENST00000389286 human ensembl 74_37 -1 known frame_shift_del c.3167 p.F1056fs 1.000 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors PRTG HGNC ENSG00000166450 102 0 0 54 12 18.1818 C15orf59 0 genome.wustl.edu 37 15 74032267 74032267 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 74032267 74032267 C - DEL C15orf59 ENST00000379822 human ensembl 74_37 -1 known frame_shift_del c.873 p.N293fs 0.393 NULL superfamily_Polyketide_synth_docking - no_errors C15orf59 HGNC ENSG00000205363 183 0 0 137 22 13.8365 CLK3 0 genome.wustl.edu 37 15 74919886 74919888 + In_Frame_Del DEL GAG GAG - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 74919886 74919888 GAG - DEL CLK3 ENST00000395066 human ensembl 74_37 +1 known in_frame_del c.1363_1365 p.E456in_frame_del 1.000:1.000:0.998 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CLK3 HGNC ENSG00000179335 170 0 0 90 27 23.0769 SCAPER 0 genome.wustl.edu 37 15 76995242 76995242 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 76995242 76995242 G - DEL SCAPER ENST00000324767 human ensembl 74_37 -1 known frame_shift_del c.2349 p.K784fs 1.000 NULL smart_Znf_U1 - no_errors SCAPER HGNC ENSG00000140386 178 0 0 144 11 7.09677 LOC645752 0 genome.wustl.edu 37 15 78217339 78217339 + RNA DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 78217339 78217339 T - DEL LOC645752 ENST00000567226 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-114H24.2 Clone_based_vega_gene ENSG00000260776 97 0 0 68 11 13.9241 NGRN 0 genome.wustl.edu 37 15 90809018 90809018 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 90809018 90809018 G - DEL NGRN ENST00000379095 human ensembl 74_37 +1 known frame_shift_del c.74 p.V27fs 0.247 NULL pfam_Neugrin-related - no_errors NGRN HGNC ENSG00000182768 53 0 0 38 5 11.6279 BLM 0 genome.wustl.edu 37 15 91347484 91347484 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 91347484 91347484 A - DEL BLM ENST00000355112 human ensembl 74_37 +1 known frame_shift_del c.3646 p.K1217fs 0.999 pfam_HRDC_dom,superfamily_HRDC-like,smart_HRDC_dom,pfscan_HRDC_dom pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_HRDC-like,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 BLM HGNC ENSG00000197299 131 0 0 134 8 5.6338 IGF1R 0 genome.wustl.edu 37 15 99467855 99467856 + Frame_Shift_Ins INS - - TC TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 15 99467855 99467856 - TC INS IGF1R ENST00000268035 human ensembl 74_37 +1 known frame_shift_ins c.2724_2725 p.G911fs 0.870:1.000 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors IGF1R HGNC ENSG00000140443 146 0 0 92 8 8 GSPT1 0 genome.wustl.edu 37 16 11969760 11969760 + Frame_Shift_Del DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 11969760 11969760 T - DEL GSPT1 ENST00000434724 human ensembl 74_37 -1 known frame_shift_del c.1719 p.K573fs 1.000 pfam_Transl_elong_EFTu/EF1A_C,superfamily_Transl_elong_EF1A/Init_IF2_C pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom - no_errors GSPT1 HGNC ENSG00000103342 55 0 0 34 7 17.0732 CACNA1H 0 genome.wustl.edu 37 16 1270496 1270496 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 1270496 1270496 C - DEL CACNA1H ENST00000348261 human ensembl 74_37 +1 known frame_shift_del c.6564 p.C2191fs 0.999 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 110 0 0 56 7 11.1111 PTX4 0 genome.wustl.edu 37 16 1536186 1536186 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 1536186 1536186 G - DEL PTX4 ENST00000447419 human ensembl 74_37 -1 known frame_shift_del c.1191 p.G398fs 0.011 pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors PTX4 HGNC ENSG00000251692 59 0 0 37 8 17.7778 NDUFB10 0 genome.wustl.edu 37 16 2009662 2009662 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 2009662 2009662 C - DEL NDUFB10 ENST00000268668 human ensembl 74_37 +1 known frame_shift_del c.37 p.P14fs 1.000 NULL pfam_NADH_UbQ_OxRdtase_su10 - no_errors NDUFB10 HGNC ENSG00000140990 48 0 0 34 7 17.0732 INO80E 0 genome.wustl.edu 37 16 30007664 30007665 + Frame_Shift_Ins INS - - A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 30007664 30007665 - A INS INO80E ENST00000563197 human ensembl 74_37 +1 known frame_shift_ins c.33_34 p.Y14fs 1.000:1.000 NULL NULL - no_errors INO80E HGNC ENSG00000169592 16 0 0 9 2 18.1818 HCFC1R1 0 genome.wustl.edu 37 16 3073266 3073266 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 3073266 3073266 G - DEL HCFC1R1 ENST00000248089 human ensembl 74_37 -1 known frame_shift_del c.249 p.M84fs 0.001 NULL NULL - no_errors HCFC1R1 HGNC ENSG00000103145 104 0 0 81 22 21.3592 PHKG2 0 genome.wustl.edu 37 16 30768016 30768017 + Frame_Shift_Ins INS - - C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 30768016 30768017 - C INS PHKG2 ENST00000563588 human ensembl 74_37 +1 known frame_shift_ins c.907_908 p.R305fs 0.760:0.756 superfamily_Kinase-like_dom,prints_Phosph_kin_gamma 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_Phosph_kin_gamma,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PHKG2 HGNC ENSG00000156873 193 0 0 120 12 9.09091 PHKB 0 genome.wustl.edu 37 16 47684785 47684785 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 47684785 47684785 A - DEL PHKB ENST00000299167 human ensembl 74_37 +1 known frame_shift_del c.1924 p.G644fs 1.000 pfam_Glyco_hydro_15 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKB HGNC ENSG00000102893 133 0 0 108 21 16.2791 APRT 0 genome.wustl.edu 37 16 88876126 88876128 + In_Frame_Del DEL AGA AGA - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 88876126 88876128 AGA - DEL APRT ENST00000378364 human ensembl 74_37 -1 known in_frame_del c.523_521 p.F174in_frame_del 1.000:1.000:1.000 tigrfam_Ade_phspho_trans pfam_PRibTrfase_dom,tigrfam_Ade_phspho_trans - no_errors APRT HGNC ENSG00000198931 148 0 0 82 9 9.89011 ANKRD11 0 genome.wustl.edu 37 16 89349838 89349838 + Frame_Shift_Del DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 89349838 89349838 T - DEL ANKRD11 ENST00000301030 human ensembl 74_37 -1 known frame_shift_del c.3112 p.S1038fs 0.001 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 167 0 0 116 24 17.1429 TUBB3 0 genome.wustl.edu 37 16 90001671 90001671 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 16 90001671 90001671 C - DEL TUBB3 ENST00000315491 human ensembl 74_37 +1 known frame_shift_del c.812 p.L273fs 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB3 Uniprot_gn ENSG00000258947 140 0 0 100 8 7.40741 EPN2 0 genome.wustl.edu 37 17 19232950 19232950 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 19232950 19232950 A - DEL EPN2 ENST00000314728 human ensembl 74_37 +1 known frame_shift_del c.1401 p.T470fs 1.000 NULL pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN2 HGNC ENSG00000072134 103 0 0 77 12 13.4831 ULK2 0 genome.wustl.edu 37 17 19729489 19729489 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 19729489 19729489 A - DEL ULK2 ENST00000361658 human ensembl 74_37 -1 known frame_shift_del c.798 p.F266fs 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser/Thr_kinase_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK2 HGNC ENSG00000083290 118 0 0 90 11 10.8911 SPECC1 0 genome.wustl.edu 37 17 20108263 20108263 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 20108263 20108263 A - DEL SPECC1 ENST00000261503 human ensembl 74_37 +1 known frame_shift_del c.901 p.N303fs 0.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1 HGNC ENSG00000128487 153 1 0.649351 112 15 11.811 PAFAH1B1 0 genome.wustl.edu 37 17 2579802 2579802 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 2579802 2579802 A - DEL PAFAH1B1 ENST00000397195 human ensembl 74_37 +1 known frame_shift_del c.904 p.S304fs 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Dynein_regulator_LIS1,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pirsf_Dynein_regulator_LIS1,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PAFAH1B1 HGNC ENSG00000007168 84 0 0 71 18 20.2247 LGALS9 0 genome.wustl.edu 37 17 25958317 25958320 + Frame_Shift_Del DEL CCTA CCTA - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 CCTA CCTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 25958317 25958320 CCTA - DEL LGALS9 ENST00000395473 human ensembl 74_37 +1 known frame_shift_del c.26_29 p.Y10fs 0.016:0.009:0.014:0.012 superfamily_ConA-like_lec_gl_sf pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS9 HGNC ENSG00000168961 99 0 0 72 6 7.69231 C17orf97 0 genome.wustl.edu 37 17 263498 263498 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 263498 263498 C - DEL C17orf97 ENST00000360127 human ensembl 74_37 +1 known frame_shift_del c.864 p.E290fs 0.003 NULL NULL - no_errors C17orf97 HGNC ENSG00000187624 87 0 0 50 9 15.2542 NLK 0 genome.wustl.edu 37 17 26449740 26449740 + Frame_Shift_Del DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 26449740 26449740 T - DEL NLK ENST00000407008 human ensembl 74_37 +1 known frame_shift_del c.570 p.F192fs 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NLK HGNC ENSG00000087095 105 0 0 67 23 25.5556 PHF12 0 genome.wustl.edu 37 17 27253876 27253877 + RNA INS - - G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 27253876 27253877 - G INS PHF12 ENST00000483934 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.001 - - - no_errors PHF12 HGNC ENSG00000109118 11 0 0 6 2 25 ENSG00000265289 0 genome.wustl.edu 37 17 28386482 28386482 + RNA DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 28386482 28386482 T - DEL ENSG00000265289 ENST00000583250 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC104984.4 Clone_based_vega_gene ENSG00000265289 47 0 0 36 5 12.1951 TEFM 0 genome.wustl.edu 37 17 29226626 29226626 + Splice_Site DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 29226626 29226626 T - DEL TEFM ENST00000581216 human ensembl 74_37 -1 known splice_site_del c.646-2 e4-2 0.977 - - - no_errors TEFM HGNC ENSG00000172171 66 0 0 57 8 12.3077 SLFN5 0 genome.wustl.edu 37 17 33592319 33592319 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 33592319 33592319 C - DEL SLFN5 ENST00000299977 human ensembl 74_37 +1 known frame_shift_del c.2088 p.P698fs 0.820 superfamily_P-loop_NTPase pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN5 HGNC ENSG00000166750 122 0 0 72 17 19.1011 GGNBP2 0 genome.wustl.edu 37 17 34937904 34937905 + Frame_Shift_Ins INS - - GT TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 34937904 34937905 - GT INS GGNBP2 ENST00000304718 human ensembl 74_37 +1 known frame_shift_ins c.1151_1152 p.C388fs 0.999:1.000 NULL NULL - no_errors GGNBP2 HGNC ENSG00000005955 100 0 0 78 6 7.14286 GSDMB 0 genome.wustl.edu 37 17 38065270 38065270 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 38065270 38065270 G - DEL GSDMB ENST00000360317 human ensembl 74_37 -1 known frame_shift_del c.602 p.P201fs 0.000 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMB HGNC ENSG00000073605 228 0 0 171 9 5 KRT24 0 genome.wustl.edu 37 17 38855801 38855801 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 38855801 38855801 C - DEL KRT24 ENST00000264651 human ensembl 74_37 -1 known frame_shift_del c.1256 p.G419fs 0.038 pfam_IF,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT24 HGNC ENSG00000167916 250 0 0 234 13 5.26316 STAT5A 0 genome.wustl.edu 37 17 40453398 40453399 + Frame_Shift_Ins INS - - C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 40453398 40453399 - C INS STAT5A ENST00000345506 human ensembl 74_37 +1 known frame_shift_ins c.1095_1096 p.Q367fs 1.000:1.000 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5A HGNC ENSG00000126561 135 0 0 97 14 12.6126 EZH1 0 genome.wustl.edu 37 17 40879741 40879742 + Frame_Shift_Ins INS - - T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 40879741 40879742 - T INS EZH1 ENST00000428826 human ensembl 74_37 -1 known frame_shift_ins c.158_157 p.T53fs 0.989:0.998 pfam_EZH2_WD-Binding pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom - no_errors EZH1 HGNC ENSG00000108799 134 0 0 92 8 8 WNK4 0 genome.wustl.edu 37 17 40932962 40932962 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 40932962 40932962 C - DEL WNK4 ENST00000246914 human ensembl 74_37 +1 known frame_shift_del c.246 p.D85fs 0.824 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 WNK4 HGNC ENSG00000126562 72 0 0 63 7 10 PLEKHM1 0 genome.wustl.edu 37 17 43531274 43531274 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 43531274 43531274 G - DEL PLEKHM1 ENST00000430334 human ensembl 74_37 -1 known frame_shift_del c.1944 p.E649fs 0.000 NULL pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Pleckstrin_homology,pfscan_Run,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PLEKHM1 HGNC ENSG00000225190 109 0 0 89 15 14.4231 NFE2L1 0 genome.wustl.edu 37 17 46128958 46128959 + Frame_Shift_Ins INS - - C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 46128958 46128959 - C INS NFE2L1 ENST00000362042 human ensembl 74_37 +1 known frame_shift_ins c.478_479 p.V163fs 1.000:1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L1 HGNC ENSG00000082641 142 0 0 128 14 9.85915 HOXB7 0 genome.wustl.edu 37 17 46685097 46685098 + RNA INS - - T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 46685097 46685098 - T INS HOXB7 ENST00000567101 human ensembl 74_37 -1 known rna NULL NULL 0.003:0.002 - - - no_errors HOXB7 HGNC ENSG00000260027 24 0 0 12 3 20 ABCC3 0 genome.wustl.edu 37 17 48735469 48735471 + In_Frame_Del DEL CAC CAC - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 CAC CAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 48735469 48735471 CAC - DEL ABCC3 ENST00000285238 human ensembl 74_37 +1 known in_frame_del c.513_515 p.T173in_frame_del 1.000:1.000:1.000 tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC3 HGNC ENSG00000108846 166 0 0 131 10 7.0922 RNF43 0 genome.wustl.edu 37 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 56435161 56435161 C - DEL RNF43 ENST00000407977 human ensembl 74_37 -1 known frame_shift_del c.1976 p.G659fs 0.900 NULL pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 277 1 0.359712 172 28 14 PRKCA 0 genome.wustl.edu 37 17 64298959 64298960 + RNA INS - - G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 64298959 64298960 - G INS PRKCA ENST00000583361 human ensembl 74_37 +1 known rna NULL NULL 0.014:0.092 - - - no_errors PRKCA HGNC ENSG00000154229 27 0 0 12 4 25 PHF23 0 genome.wustl.edu 37 17 7139748 7139748 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 7139748 7139748 G - DEL PHF23 ENST00000320316 human ensembl 74_37 -1 known frame_shift_del c.498 p.V167fs 0.918 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_errors PHF23 HGNC ENSG00000040633 128 0 0 72 18 20 NEURL4 0 genome.wustl.edu 37 17 7230925 7230926 + Frame_Shift_Ins INS - - G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 7230925 7230926 - G INS NEURL4 ENST00000399464 human ensembl 74_37 -1 known frame_shift_ins c.561_560 p.R188fs 0.003:0.082 superfamily_ConA-like_lec_gl_sf,pfscan_Neu_Z pfam_Neu_Z,superfamily_ConA-like_lec_gl_sf,smart_Neu_Z,pfscan_Neu_Z - no_errors NEURL4 HGNC ENSG00000215041 102 0 0 80 11 12.0879 WRAP53 0 genome.wustl.edu 37 17 7606722 7606722 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 17 7606722 7606722 C - DEL WRAP53 ENST00000316024 human ensembl 74_37 +1 known frame_shift_del c.1565 p.A522fs 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WRAP53 HGNC ENSG00000141499 115 0 0 82 17 17.1717 ROCK1 0 genome.wustl.edu 37 18 18533679 18533679 + Frame_Shift_Del DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 18 18533679 18533679 T - DEL ROCK1 ENST00000399799 human ensembl 74_37 -1 known frame_shift_del c.3921 p.K1307fs 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd_dom,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK1 HGNC ENSG00000067900 141 1 0.704225 133 9 6.33803 EMILIN2 0 genome.wustl.edu 37 18 2913410 2913410 + RNA DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 18 2913410 2913410 G - DEL EMILIN2 ENST00000308080 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors EMILIN2 HGNC ENSG00000132205 40 0 0 39 5 11.3636 SETBP1 0 genome.wustl.edu 37 18 42643610 42643610 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 18 42643610 42643610 A - DEL SETBP1 ENST00000282030 human ensembl 74_37 +1 known frame_shift_del c.4738 p.A1581fs 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 27 0 0 16 8 33.3333 TCEB3B 0 genome.wustl.edu 37 18 44559425 44559426 + Frame_Shift_Ins INS - - T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 18 44559425 44559426 - T INS TCEB3B ENST00000332567 human ensembl 74_37 -1 known frame_shift_ins c.2211_2210 p.L738fs 0.000:0.002 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC ENSG00000206181 232 0 0 176 15 7.8534 EPB41L3 0 genome.wustl.edu 37 18 5433504 5433504 + Frame_Shift_Del DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 18 5433504 5433504 T - DEL EPB41L3 ENST00000341928 human ensembl 74_37 -1 known frame_shift_del c.876 p.K292fs 0.730 pirsf_Band_41_protein,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 41 0 0 26 6 18.75 LMAN1 0 genome.wustl.edu 37 18 57013285 57013285 + Splice_Site DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 18 57013285 57013285 T - DEL LMAN1 ENST00000251047 human ensembl 74_37 -1 known splice_site_del c.823-2 e8-2 1.000 - - - no_errors LMAN1 HGNC ENSG00000074695 135 1 0.735294 71 42 37.1681 KIAA1468 0 genome.wustl.edu 37 18 59966066 59966066 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 18 59966066 59966066 A - DEL KIAA1468 ENST00000256858 human ensembl 74_37 +1 known frame_shift_del c.3605 p.N1203fs 1.000 NULL pfam_HEAT,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_HEAT_type_2,pfscan_LisH_dimerisation - no_errors KIAA1468 HGNC ENSG00000134444 56 0 0 72 6 7.69231 SERPINB12 0 genome.wustl.edu 37 18 61228376 61228376 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 18 61228376 61228376 A - DEL SERPINB12 ENST00000269491 human ensembl 74_37 +1 known frame_shift_del c.443 p.N150fs 0.009 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB12 HGNC ENSG00000166634 158 0 0 103 16 13.4454 DNM2 0 genome.wustl.edu 37 19 10940881 10940882 + Frame_Shift_Ins INS - - C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 10940881 10940882 - C INS DNM2 ENST00000314646 human ensembl 74_37 +1 known frame_shift_ins c.2370_2371 p.L792fs 0.894:1.000 NULL pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF - no_errors DNM2 HGNC ENSG00000079805 143 0 0 86 16 15.6863 CCDC151 0 genome.wustl.edu 37 19 11545825 11545827 + In_Frame_Del DEL GAG GAG - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 11545825 11545827 GAG - DEL CCDC151 ENST00000356392 human ensembl 74_37 -1 known in_frame_del c.13_11 p.P4in_frame_del 0.754:0.521:0.574 NULL NULL - no_errors CCDC151 HGNC ENSG00000198003 90 0 0 58 9 13.4328 JUNB 0 genome.wustl.edu 37 19 12902925 12902925 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 12902925 12902925 G - DEL JUNB ENST00000302754 human ensembl 74_37 +1 known frame_shift_del c.340 p.G115fs 1.000 pfam_JNK pfam_JNK,pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun - no_errors JUNB HGNC ENSG00000171223 20 0 0 12 4 25 FARSA 0 genome.wustl.edu 37 19 13041102 13041103 + Frame_Shift_Ins INS - - C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 13041102 13041103 - C INS FARSA ENST00000314606 human ensembl 74_37 -1 known frame_shift_ins c.438_437 p.Q147fs 0.431:0.999 NULL pfam_Phenylalanyl-tRNA_Synthase,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Phe-tRNA-synth_IIc_asu - no_errors FARSA HGNC ENSG00000179115 121 0 0 107 12 10.084 MPV17L2 0 genome.wustl.edu 37 19 18305818 18305819 + Frame_Shift_Ins INS - - C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 18305818 18305819 - C INS MPV17L2 ENST00000599612 human ensembl 74_37 +1 known frame_shift_ins c.486_487 p.Q164fs 1.000:1.000 pfam_Mpv17_PMP22 pfam_Mpv17_PMP22 - no_errors MPV17L2 HGNC ENSG00000254858 152 0 0 114 19 14.2857 KIAA1683 0 genome.wustl.edu 37 19 18368676 18368676 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 18368676 18368676 C - DEL KIAA1683 ENST00000392413 human ensembl 74_37 -1 known frame_shift_del c.3418 p.A1140fs 0.352 pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors KIAA1683 HGNC ENSG00000130518 116 0 0 78 29 27.1028 AMH 0 genome.wustl.edu 37 19 2249534 2249534 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 2249534 2249534 C - DEL AMH ENST00000221496 human ensembl 74_37 +1 known frame_shift_del c.203 p.L70fs 0.000 pirsf_Muellerian-inhibiting_factor pfam_AMH_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_Muellerian-inhibiting_factor - no_errors AMH HGNC ENSG00000104899 20 0 0 13 3 18.75 KMT2B 0 genome.wustl.edu 37 19 36210764 36210764 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 36210764 36210764 C - DEL KMT2B ENST00000222270 human ensembl 74_37 +1 known frame_shift_del c.515 p.P174fs 0.976 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 144 0 0 103 18 14.876 KMT2B 0 genome.wustl.edu 37 19 36216189 36216189 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 36216189 36216189 C - DEL KMT2B ENST00000222270 human ensembl 74_37 +1 known frame_shift_del c.3597 p.P1201fs 0.130 pirsf_MeTrfase_trithorax,superfamily_Znf_FYVE_PHD,pfscan_Znf_PHD-finger pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 45 0 0 32 5 13.5135 ARHGAP33 0 genome.wustl.edu 37 19 36279197 36279198 + Frame_Shift_Ins INS - - G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 36279197 36279198 - G INS ARHGAP33 ENST00000007510 human ensembl 74_37 +1 known frame_shift_ins c.3730_3731 p.E1247fs 0.606:0.488 NULL pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP33 HGNC ENSG00000004777 44 0 0 24 4 14.2857 KIRREL2 0 genome.wustl.edu 37 19 36357214 36357214 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 36357214 36357214 C - DEL KIRREL2 ENST00000360202 human ensembl 74_37 +1 known frame_shift_del c.1947 p.C652fs 0.003 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL2 HGNC ENSG00000126259 157 1 0.632911 89 28 23.9316 SIPA1L3 0 genome.wustl.edu 37 19 38573183 38573183 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 38573183 38573183 C - DEL SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known frame_shift_del c.978 p.P328fs 0.983 NULL pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L3 HGNC ENSG00000105738 54 0 0 41 7 14.5833 CAPN12 0 genome.wustl.edu 37 19 39230770 39230773 + Frame_Shift_Del DEL AGAT AGAT - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 AGAT AGAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 39230770 39230773 AGAT - DEL CAPN12 ENST00000328867 human ensembl 74_37 -1 known frame_shift_del c.650_647 p.Y216fs 1.000:1.000:1.000:1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN12 HGNC ENSG00000182472 49 0 0 37 6 13.9535 IFNL3 0 genome.wustl.edu 37 19 39734465 39734465 + Frame_Shift_Del DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 39734465 39734465 T - DEL IFNL3 ENST00000413851 human ensembl 74_37 -1 known frame_shift_del c.491 p.K164fs 0.297 NULL NULL - no_errors IFNL3 HGNC ENSG00000197110 110 0 0 98 12 10.9091 PIAS4 0 genome.wustl.edu 37 19 4013139 4013139 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 4013139 4013139 C - DEL PIAS4 ENST00000262971 human ensembl 74_37 +1 known frame_shift_del c.246 p.L84fs 0.781 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS4 HGNC ENSG00000105229 137 0 0 94 9 8.73786 DYRK1B 0 genome.wustl.edu 37 19 40316563 40316563 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 40316563 40316563 G - DEL DYRK1B ENST00000323039 human ensembl 74_37 -1 known frame_shift_del c.1682 p.P561fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DYRK1B HGNC ENSG00000105204 113 0 0 75 17 18.4783 CYP2A13 0 genome.wustl.edu 37 19 41594939 41594941 + In_Frame_Del DEL GAG GAG - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 41594939 41594941 GAG - DEL CYP2A13 ENST00000330436 human ensembl 74_37 +1 known in_frame_del c.286_288 p.E97in_frame_del 1.000:1.000:1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP2A13 HGNC ENSG00000197838 169 0 0 105 9 7.89474 LMTK3 0 genome.wustl.edu 37 19 49000731 49000732 + Frame_Shift_Ins INS - - G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 49000731 49000732 - G INS LMTK3 ENST00000270238 human ensembl 74_37 -1 known frame_shift_ins c.3682_3681 p.K1227fs 0.985:0.998 smart_Ser/Thr_dual-sp_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK3 HGNC ENSG00000142235 97 0 0 88 7 7.36842 TRPM4 0 genome.wustl.edu 37 19 49692275 49692275 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 49692275 49692275 G - DEL TRPM4 ENST00000252826 human ensembl 74_37 +1 known frame_shift_del c.1946 p.D651fs 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM4 HGNC ENSG00000130529 174 0 0 146 10 6.41026 TEAD2 0 genome.wustl.edu 37 19 49850473 49850473 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 49850473 49850473 G - DEL TEAD2 ENST00000311227 human ensembl 74_37 -1 known frame_shift_del c.883 p.H295fs 0.961 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD2 HGNC ENSG00000074219 383 1 0.260417 273 51 15.7407 TSKS 0 genome.wustl.edu 37 19 50243063 50243064 + Frame_Shift_Ins INS - - G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 50243063 50243064 - G INS TSKS ENST00000246801 human ensembl 74_37 -1 known frame_shift_ins c.1749_1748 p.Q585fs 0.998:1.000 NULL NULL - no_errors TSKS HGNC ENSG00000126467 154 0 0 121 20 14.1844 SIGLEC9 0 genome.wustl.edu 37 19 51631276 51631278 + In_Frame_Del DEL CTT CTT - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 51631276 51631278 CTT - DEL SIGLEC9 ENST00000440804 human ensembl 74_37 +1 known in_frame_del c.1086_1088 p.F363in_frame_del 0.000:0.000:0.004 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom - no_errors SIGLEC9 HGNC ENSG00000129450 196 0 0 165 25 13.1579 SIGLEC10 0 genome.wustl.edu 37 19 51918605 51918605 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 51918605 51918605 G - DEL SIGLEC10 ENST00000339313 human ensembl 74_37 -1 known frame_shift_del c.1160 p.P387fs 0.122 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC10 HGNC ENSG00000142512 70 0 0 68 7 9.33333 LILRB1 0 genome.wustl.edu 37 19 55148384 55148385 + RNA INS - - C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 55148384 55148385 - C INS LILRB1 ENST00000462628 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.001 - - - no_errors LILRB1 HGNC ENSG00000104972 47 0 0 31 7 18.4211 PTPRH 0 genome.wustl.edu 37 19 55716887 55716887 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 55716887 55716887 G - DEL PTPRH ENST00000376350 human ensembl 74_37 -1 known frame_shift_del c.426 p.D143fs 0.001 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRH HGNC ENSG00000080031 128 0 0 82 22 21.1538 SAFB2 0 genome.wustl.edu 37 19 5595419 5595420 + Frame_Shift_Del DEL CT CT - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 5595419 5595420 CT - DEL SAFB2 ENST00000252542 human ensembl 74_37 -1 known frame_shift_del c.1872_1871 p.E624fs 1.000:1.000 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SAFB2 HGNC ENSG00000130254 85 0 0 67 13 16.25 ENSG00000267865 0 genome.wustl.edu 37 19 56220431 56220431 + RNA DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 56220431 56220431 T - DEL ENSG00000267865 ENST00000596293 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2611O12.8 Clone_based_vega_gene ENSG00000267865 39 0 0 35 7 16.6667 FUT6 0 genome.wustl.edu 37 19 5832408 5832408 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 5832408 5832408 G - DEL FUT6 ENST00000592563 human ensembl 74_37 -1 known frame_shift_del c.171 p.A58fs 0.000 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT6 HGNC ENSG00000156413 81 0 0 50 9 15.2542 MUC16 0 genome.wustl.edu 37 19 9049103 9049103 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 19 9049103 9049103 A - DEL MUC16 ENST00000397910 human ensembl 74_37 -1 known frame_shift_del c.32528 p.F10843fs 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 154 0 0 110 18 14.0625 SLC9A2 0 genome.wustl.edu 37 2 103324746 103324746 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 103324746 103324746 C - DEL SLC9A2 ENST00000233969 human ensembl 74_37 +1 known frame_shift_del c.2237 p.P748fs 0.000 prints_Na/H_exchanger_2 pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A2 HGNC ENSG00000115616 252 1 0.395257 187 24 11.3744 SULT1C3 0 genome.wustl.edu 37 2 108863685 108863685 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 108863685 108863685 A - DEL SULT1C3 ENST00000329106 human ensembl 74_37 +1 known frame_shift_del c.35 p.K14fs 0.001 superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1C3 HGNC ENSG00000196228 129 0 0 81 24 22.8571 MIR1302-3 0 genome.wustl.edu 37 2 114340578 114340578 + RNA DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 114340578 114340578 T - DEL MIR1302-3 ENST00000408128 human ensembl 74_37 -1 known rna NULL NULL 0.010 - - - no_errors MIR1302-3 HGNC ENSG00000221055 140 0 0 92 19 17.1171 ZRANB3 0 genome.wustl.edu 37 2 135988440 135988440 + Frame_Shift_Del DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 135988440 135988440 T - DEL ZRANB3 ENST00000264159 human ensembl 74_37 -1 known frame_shift_del c.1597 p.R533fs 0.015 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ZRANB3 HGNC ENSG00000121988 68 0 0 60 8 11.7647 ACVR2A 0 genome.wustl.edu 37 2 148657041 148657041 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 148657041 148657041 A - DEL ACVR2A ENST00000241416 human ensembl 74_37 +1 known frame_shift_del c.278 p.D96fs 1.000 pfam_Activin_rcpt,prints_TGFB_receptor pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2A HGNC ENSG00000121989 128 0 0 90 23 20.354 ACVR2A 0 genome.wustl.edu 37 2 148683686 148683686 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 148683686 148683686 A - DEL ACVR2A ENST00000241416 human ensembl 74_37 +1 known frame_shift_del c.1303 p.K437fs 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2A HGNC ENSG00000121989 152 1 0.653595 109 31 22.1429 ORC4 0 genome.wustl.edu 37 2 148712917 148712917 + Frame_Shift_Del DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 148712917 148712917 T - DEL ORC4 ENST00000264169 human ensembl 74_37 -1 known frame_shift_del c.435 p.G146fs 0.998 pfam_ATPase_AAA_core,pfam_ATPase_dom_prok,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_ORC4 pfam_ATPase_AAA_core,pfam_ATPase_dom_prok,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_ORC4 - no_errors ORC4 HGNC ENSG00000115947 35 0 0 26 6 18.75 EPC2 0 genome.wustl.edu 37 2 149447829 149447829 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 149447829 149447829 A - DEL EPC2 ENST00000258484 human ensembl 74_37 +1 known frame_shift_del c.200 p.E70fs 1.000 pfam_Enhancer_polycomb-like_N pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N - no_errors EPC2 HGNC ENSG00000135999 85 0 0 70 9 11.3924 CCDC148 0 genome.wustl.edu 37 2 159077217 159077217 + Frame_Shift_Del DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 159077217 159077217 T - DEL CCDC148 ENST00000283233 human ensembl 74_37 -1 known frame_shift_del c.1260 p.K420fs 1.000 NULL NULL - no_errors CCDC148 HGNC ENSG00000153237 29 0 0 13 3 18.75 FIGN 0 genome.wustl.edu 37 2 164467489 164467489 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 164467489 164467489 G - DEL FIGN ENST00000333129 human ensembl 74_37 -1 known frame_shift_del c.853 p.L285fs 1.000 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGN HGNC ENSG00000182263 98 0 0 59 9 13.2353 DCAF17 0 genome.wustl.edu 37 2 172300086 172300086 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 172300086 172300086 A - DEL DCAF17 ENST00000375255 human ensembl 74_37 +1 known frame_shift_del c.284 p.I97fs 1.000 NULL NULL - no_errors DCAF17 HGNC ENSG00000115827 111 0 0 78 11 12.3596 DYNC1I2 0 genome.wustl.edu 37 2 172549339 172549339 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 172549339 172549339 A - DEL DYNC1I2 ENST00000397119 human ensembl 74_37 +1 known frame_shift_del c.161 p.R57fs 1.000 NULL pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I2 HGNC ENSG00000077380 27 0 0 22 5 18.5185 COL3A1 0 genome.wustl.edu 37 2 189855752 189855752 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 189855752 189855752 A - DEL COL3A1 ENST00000304636 human ensembl 74_37 +1 known frame_shift_del c.821 p.K275fs 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL3A1 HGNC ENSG00000168542 180 0 0 161 28 14.8148 PLCL1 0 genome.wustl.edu 37 2 198948749 198948749 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 198948749 198948749 A - DEL PLCL1 ENST00000428675 human ensembl 74_37 +1 known frame_shift_del c.508 p.N171fs 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL1 HGNC ENSG00000115896 168 0 0 131 7 5.07246 NOP58 0 genome.wustl.edu 37 2 203168133 203168133 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 203168133 203168133 A - DEL NOP58 ENST00000264279 human ensembl 74_37 +1 known frame_shift_del c.1564 p.K524fs 1.000 NULL pfam_Nop_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC - no_errors NOP58 HGNC ENSG00000055044 65 0 0 41 6 12.766 BMPR2 0 genome.wustl.edu 37 2 203420130 203420130 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 203420130 203420130 A - DEL BMPR2 ENST00000374580 human ensembl 74_37 +1 known frame_shift_del c.1742 p.N583fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BMPR2 HGNC ENSG00000204217 112 0 0 67 8 10.6667 PARD3B 0 genome.wustl.edu 37 2 206166298 206166298 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 206166298 206166298 A - DEL PARD3B ENST00000406610 human ensembl 74_37 +1 known frame_shift_del c.2503 p.T837fs 0.996 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC ENSG00000116117 117 0 0 53 9 14.5161 CRYGB 0 genome.wustl.edu 37 2 209010499 209010499 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 209010499 209010499 G - DEL CRYGB ENST00000260988 human ensembl 74_37 -1 known frame_shift_del c.251 p.P84fs 0.011 superfamily_G_crystallin-rel pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,prints_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin - no_errors CRYGB HGNC ENSG00000182187 166 0 0 116 21 15.3285 ABCA12 0 genome.wustl.edu 37 2 215843156 215843156 + Frame_Shift_Del DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 215843156 215843156 T - DEL ABCA12 ENST00000272895 human ensembl 74_37 -1 known frame_shift_del c.5012 p.N1671fs 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 43 0 0 30 8 21.0526 CCDC108 0 genome.wustl.edu 37 2 219892687 219892687 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 219892687 219892687 G - DEL CCDC108 ENST00000341552 human ensembl 74_37 -1 known frame_shift_del c.1896 p.M633fs 1.000 NULL superfamily_PapD-like,pfscan_MSP_dom - no_errors CCDC108 HGNC ENSG00000181378 180 0 0 158 28 15.0538 OBSL1 0 genome.wustl.edu 37 2 220416424 220416424 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 220416424 220416424 C - DEL OBSL1 ENST00000404537 human ensembl 74_37 -1 known frame_shift_del c.5510 p.G1837fs 0.018 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors OBSL1 HGNC ENSG00000124006 33 0 0 39 10 20.4082 SP140 0 genome.wustl.edu 37 2 231159025 231159025 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 231159025 231159025 A - DEL SP140 ENST00000392045 human ensembl 74_37 +1 known frame_shift_del c.2008 p.K672fs 0.001 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,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,pfscan_Bromodomain - no_errors SP140 HGNC ENSG00000079263 68 0 0 45 5 10 DGKD 0 genome.wustl.edu 37 2 234365951 234365952 + Frame_Shift_Ins INS - - G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 234365951 234365952 - G INS DGKD ENST00000264057 human ensembl 74_37 +1 known frame_shift_ins c.2557_2558 p.T856fs 1.000:1.000 pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,pfam_Pleckstrin_homology,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKD HGNC ENSG00000077044 113 0 0 100 7 6.54206 SCLY 0 genome.wustl.edu 37 2 238976762 238976762 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 238976762 238976762 G - DEL SCLY ENST00000254663 human ensembl 74_37 +1 known frame_shift_del c.283 p.K97fs 0.489 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,pirsf_Cysteine_dSase_NifS pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,pirsf_Cysteine_dSase_NifS - no_errors SCLY HGNC ENSG00000132330 73 0 0 53 6 10.1695 HDAC4 0 genome.wustl.edu 37 2 240002823 240002823 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 240002823 240002823 G - DEL HDAC4 ENST00000345617 human ensembl 74_37 -1 known frame_shift_del c.2703 p.M902fs 1.000 pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC4 HGNC ENSG00000068024 56 0 0 37 5 11.9048 ANKMY1 0 genome.wustl.edu 37 2 241420369 241420369 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 241420369 241420369 C - DEL ANKMY1 ENST00000272972 human ensembl 74_37 -1 known frame_shift_del c.2764 p.D922fs 0.000 NULL pfam_Ankyrin_rpt,pfam_MORN,pfam_Znf_MYND,superfamily_Ankyrin_rpt-contain_dom,smart_MORN,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_MYND - no_errors ANKMY1 HGNC ENSG00000144504 165 0 0 122 8 6.15385 ADCY3 0 genome.wustl.edu 37 2 25141477 25141477 + Frame_Shift_Del DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 25141477 25141477 T - DEL ADCY3 ENST00000260600 human ensembl 74_37 -1 known frame_shift_del c.380 p.K127fs 1.000 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY3 HGNC ENSG00000138031 120 0 0 81 17 17.3469 ASXL2 0 genome.wustl.edu 37 2 25966872 25966873 + Frame_Shift_Ins INS - - G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 25966872 25966873 - G INS ASXL2 ENST00000435504 human ensembl 74_37 -1 known frame_shift_ins c.2334_2333 p.V779fs 0.999:1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ENSG00000143970 151 0 0 83 12 12.6316 ACP1 0 genome.wustl.edu 37 2 277054 277054 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 277054 277054 A - DEL ACP1 ENST00000272065 human ensembl 74_37 +1 known frame_shift_del c.368 p.K124fs 0.993 pfam_Ptyr_pPase_SF,superfamily_Ptyr_pPase_SF,smart_Ptyr_pPase_SF,prints_Tyr_Pase_low_mol_wt_mml pfam_Ptyr_pPase_SF,superfamily_Ptyr_pPase_SF,smart_Ptyr_pPase_SF,prints_Tyr_Pase_low_mol_wt_mml,prints_Tyr_phospatase/Ars_reductase - no_errors ACP1 HGNC ENSG00000143727 101 0 0 79 13 14.1304 FAM98A 0 genome.wustl.edu 37 2 33813524 33813525 + Frame_Shift_Ins INS - - T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 33813524 33813525 - T INS FAM98A ENST00000238823 human ensembl 74_37 -1 known frame_shift_ins c.400_399 p.A133fs 1.000:1.000 pfam_Uncharacterised_FAM98 pfam_Uncharacterised_FAM98 - no_errors FAM98A HGNC ENSG00000119812 131 0 0 77 8 9.41176 LRPPRC 0 genome.wustl.edu 37 2 44145165 44145165 + Frame_Shift_Del DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 44145165 44145165 T - DEL LRPPRC ENST00000260665 human ensembl 74_37 -1 known frame_shift_del c.3147 p.A1051fs 0.844 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC ENSG00000138095 41 0 0 19 7 26.9231 MSH6 0 genome.wustl.edu 37 2 48030640 48030640 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 48030640 48030640 C - DEL MSH6 ENST00000234420 human ensembl 74_37 +1 known frame_shift_del c.3254 p.F1088fs 0.003 pfam_DNA_mismatch_repair_MutS_C,superfamily_P-loop_NTPase,smart_DNA_mismatch_repair_MutS_core,pirsf_DNA_mismatch_repair_Msh6 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP_dom,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_PWWP_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP_dom - no_errors MSH6 HGNC ENSG00000116062 73 0 0 73 14 16.092 PSME4 0 genome.wustl.edu 37 2 54093345 54093345 + Frame_Shift_Del DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 54093345 54093345 T - DEL PSME4 ENST00000404125 human ensembl 74_37 -1 known frame_shift_del c.5413 p.T1805fs 1.000 pfam_DUF3437,superfamily_ARM-type_fold pfam_DUF3437,superfamily_ARM-type_fold - no_errors PSME4 HGNC ENSG00000068878 179 0 0 116 30 20.5479 VRK2 0 genome.wustl.edu 37 2 58373509 58373509 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 58373509 58373509 A - DEL VRK2 ENST00000340157 human ensembl 74_37 +1 known frame_shift_del c.1082 p.V364fs 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors VRK2 HGNC ENSG00000028116 101 0 0 58 10 14.7059 SNRNP27 0 genome.wustl.edu 37 2 70131463 70131463 + Frame_Shift_Del DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 70131463 70131463 T - DEL SNRNP27 ENST00000409116 human ensembl 74_37 +1 novel frame_shift_del c.426 p.S145fs 0.141 NULL pfam_DUF1777 - no_errors SNRNP27 HGNC ENSG00000124380 59 0 0 39 11 22 ATP6V1B1 0 genome.wustl.edu 37 2 71191573 71191573 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 71191573 71191573 C - DEL ATP6V1B1 ENST00000234396 human ensembl 74_37 +1 known frame_shift_del c.1149 p.I386fs 0.999 pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,superfamily_P-loop_NTPase,tigrfam_ATPase_V1-cplx_bsu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu - no_errors ATP6V1B1 HGNC ENSG00000116039 113 0 0 69 12 14.8148 TET3 0 genome.wustl.edu 37 2 74274174 74274174 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 74274174 74274174 C - DEL TET3 ENST00000409262 human ensembl 74_37 +1 known frame_shift_del c.725 p.Q244fs 0.957 NULL NULL - no_errors TET3 HGNC ENSG00000187605 71 0 0 64 15 18.9873 EIF5B 0 genome.wustl.edu 37 2 99976805 99976805 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 2 99976805 99976805 A - DEL EIF5B ENST00000289371 human ensembl 74_37 +1 known frame_shift_del c.142 p.K50fs 1.000 NULL pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 44 0 0 18 4 18.1818 ESF1 0 genome.wustl.edu 37 20 13763492 13763492 + Frame_Shift_Del DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 20 13763492 13763492 T - DEL ESF1 ENST00000202816 human ensembl 74_37 -1 known frame_shift_del c.295 p.T99fs 0.000 NULL pfam_NUC153 - no_errors ESF1 HGNC ENSG00000089048 40 0 0 19 13 40.625 C20orf194 0 genome.wustl.edu 37 20 3321211 3321212 + Frame_Shift_Ins INS - - A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 20 3321211 3321212 - A INS C20orf194 ENST00000252032 human ensembl 74_37 -1 known frame_shift_ins c.921_920 p.S309fs 1.000:1.000 NULL NULL - no_errors C20orf194 HGNC ENSG00000088854 78 0 0 66 12 15.3846 L3MBTL1 0 genome.wustl.edu 37 20 42162927 42162927 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 20 42162927 42162927 C - DEL L3MBTL1 ENST00000418998 human ensembl 74_37 +1 known frame_shift_del c.1537 p.P514fs 0.999 smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_Znf_C2HC,superfamily_SAM/pointed,smart_Mbt,pfscan_Mbt - no_errors L3MBTL1 HGNC ENSG00000185513 93 0 0 58 12 17.1429 PIGT 0 genome.wustl.edu 37 20 44050026 44050026 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 20 44050026 44050026 C - DEL PIGT ENST00000279036 human ensembl 74_37 +1 known frame_shift_del c.1037 p.P348fs 0.666 pfam_PIG-T pfam_PIG-T - no_errors PIGT HGNC ENSG00000124155 47 0 0 38 8 17.3913 SYCP2 0 genome.wustl.edu 37 20 58467047 58467047 + Frame_Shift_Del DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 20 58467047 58467047 T - DEL SYCP2 ENST00000357552 human ensembl 74_37 -1 known frame_shift_del c.2362 p.M788fs 0.029 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 54 0 0 46 12 20.6897 LRRN4 0 genome.wustl.edu 37 20 6021714 6021714 + Frame_Shift_Del DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 20 6021714 6021714 T - DEL LRRN4 ENST00000378858 human ensembl 74_37 -1 known frame_shift_del c.2177 p.N726fs 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LRRN4 HGNC ENSG00000125872 80 0 0 61 8 11.5942 WRB 0 genome.wustl.edu 37 21 40768975 40768975 + RNA DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 21 40768975 40768975 T - DEL WRB ENST00000466787 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors WRB HGNC ENSG00000182093 18 0 0 6 5 45.4545 PDE9A 0 genome.wustl.edu 37 21 44195538 44195540 + RNA DEL AAA AAA - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 21 44195538 44195540 AAA - DEL PDE9A ENST00000460989 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.000 - - - no_errors PDE9A HGNC ENSG00000160191 24 0 0 13 9 40.9091 MED15 0 genome.wustl.edu 37 22 20939157 20939157 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 22 20939157 20939157 C - DEL MED15 ENST00000263205 human ensembl 74_37 +1 known frame_shift_del c.1819 p.P608fs 1.000 pfam_Mediator_Med15_met pfam_Mediator_Med15_met - no_errors MED15 HGNC ENSG00000099917 93 0 0 72 10 12.1951 MPST 0 genome.wustl.edu 37 22 37425539 37425539 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 22 37425539 37425539 G - DEL MPST ENST00000397129 human ensembl 74_37 +1 known frame_shift_del c.938 p.K315fs 0.928 NULL pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors MPST HGNC ENSG00000128309 30 0 0 19 4 17.3913 SREBF2 0 genome.wustl.edu 37 22 42289201 42289201 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 22 42289201 42289201 C - DEL SREBF2 ENST00000361204 human ensembl 74_37 +1 known frame_shift_del c.2289 p.L765fs 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SREBF2 HGNC ENSG00000198911 121 0 0 83 22 20.9524 MCAT 0 genome.wustl.edu 37 22 43529199 43529199 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 22 43529199 43529199 C - DEL MCAT ENST00000290429 human ensembl 74_37 -1 known frame_shift_del c.1023 p.F342fs 0.005 superfamily_Acyl_Trfase/lysoPLipase,smart_PKS_acyl_transferase pfam_Acyl_transferase,superfamily_Acyl_Trfase/lysoPLipase,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_acyl_transferase - no_errors MCAT HGNC ENSG00000100294 447 0 0 298 55 15.5807 ZBTB20 0 genome.wustl.edu 37 3 114058003 114058003 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 114058003 114058003 G - DEL ZBTB20 ENST00000474710 human ensembl 74_37 -1 known frame_shift_del c.2075 p.P692fs 0.678 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ENSG00000181722 107 0 0 68 11 13.9241 GTF2E1 0 genome.wustl.edu 37 3 120489634 120489634 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 120489634 120489634 A - DEL GTF2E1 ENST00000283875 human ensembl 74_37 +1 known frame_shift_del c.508 p.D172fs 1.000 pfam_Znf_TFIIB,smart_TFIIE_asu pfam_TFIIEa/SarR/Rpc3_HTH_dom,pfam_TFIIE_asu_C,pfam_Znf_TFIIB,smart_TFIIE_asu - no_errors GTF2E1 HGNC ENSG00000153767 291 1 0.342466 200 50 20 EAF2 0 genome.wustl.edu 37 3 121573659 121573659 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 121573659 121573659 A - DEL EAF2 ENST00000273668 human ensembl 74_37 +1 known frame_shift_del c.327 p.T112fs 0.970 pfam_Tscrpt_elong_fac_Eaf_N pfam_Tscrpt_elong_fac_Eaf_N - no_errors EAF2 HGNC ENSG00000145088 112 0 0 75 16 17.5824 KALRN 0 genome.wustl.edu 37 3 124438200 124438200 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 124438200 124438200 C - DEL KALRN ENST00000360013 human ensembl 74_37 +1 known frame_shift_del c.8844 p.L2950fs 0.998 superfamily_Kinase-like_dom pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 94 0 0 67 11 14.1026 TRA2B 0 genome.wustl.edu 37 3 185641779 185641779 + RNA DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 185641779 185641779 A - DEL TRA2B ENST00000465245 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TRA2B HGNC ENSG00000136527 61 0 0 47 14 22.9508 SGOL1 0 genome.wustl.edu 37 3 20216050 20216050 + Frame_Shift_Del DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 20216050 20216050 T - DEL SGOL1 ENST00000263753 human ensembl 74_37 -1 known frame_shift_del c.973 p.M325fs 0.000 NULL pfam_Shugoshin_N,pfam_Shugoshin_C - no_errors SGOL1 HGNC ENSG00000129810 55 0 0 31 8 20.5128 DCLK3 0 genome.wustl.edu 37 3 36779713 36779714 + Frame_Shift_Ins INS - - CT TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 36779713 36779714 - CT INS DCLK3 ENST00000416516 human ensembl 74_37 -1 known frame_shift_ins c.438_437 p.E147fs 0.001:0.006 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DCLK3 HGNC ENSG00000163673 240 0 0 173 11 5.97826 ACAA1 0 genome.wustl.edu 37 3 38167143 38167143 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 38167143 38167143 C - DEL ACAA1 ENST00000333167 human ensembl 74_37 -1 known frame_shift_del c.1112 p.G371fs 1.000 pfam_Thiolase_C,pfam_ACP_syn_III_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,pfam_ACP_syn_III_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase - no_errors ACAA1 HGNC ENSG00000060971 128 0 0 98 17 14.7826 NKTR 0 genome.wustl.edu 37 3 42679035 42679036 + Frame_Shift_Ins INS - - C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 42679035 42679036 - C INS NKTR ENST00000232978 human ensembl 74_37 +1 known frame_shift_ins c.1839_1840 p.S616fs 0.992:1.000 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors NKTR HGNC ENSG00000114857 226 1 0.440529 164 29 15.0259 RBM5 0 genome.wustl.edu 37 3 50150940 50150942 + In_Frame_Del DEL AGA AGA - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 50150940 50150942 AGA - DEL RBM5 ENST00000347869 human ensembl 74_37 +1 known in_frame_del c.1580_1582 p.K529in_frame_del 1.000:1.000:1.000 NULL pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM5 HGNC ENSG00000003756 93 0 0 59 13 18.0556 DOCK3 0 genome.wustl.edu 37 3 51417604 51417604 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 51417604 51417604 C - DEL DOCK3 ENST00000266037 human ensembl 74_37 +1 known frame_shift_del c.5549 p.P1852fs 0.115 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 65 0 0 35 8 18.6047 STAB1 0 genome.wustl.edu 37 3 52543930 52543930 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 52543930 52543930 G - DEL STAB1 ENST00000321725 human ensembl 74_37 +1 known frame_shift_del c.2392 p.V800fs 0.999 smart_EG-like_dom pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 91 0 0 57 15 20.8333 ARHGEF3 0 genome.wustl.edu 37 3 56789105 56789105 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 56789105 56789105 G - DEL ARHGEF3 ENST00000338458 human ensembl 74_37 -1 known frame_shift_del c.375 p.S126fs 0.291 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF3 HGNC ENSG00000163947 248 0 0 228 17 6.93878 ATXN7 0 genome.wustl.edu 37 3 63981832 63981832 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 63981832 63981832 C - DEL ATXN7 ENST00000398590 human ensembl 74_37 +1 known frame_shift_del c.2334 p.T781fs 0.705 NULL pfam_SCA7_dom - no_errors ATXN7 HGNC ENSG00000163635 100 0 0 80 14 14.8936 ROBO2 0 genome.wustl.edu 37 3 77657038 77657038 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 77657038 77657038 C - DEL ROBO2 ENST00000461745 human ensembl 74_37 +1 known frame_shift_del c.3226 p.P1078fs 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 82 0 0 40 12 23.0769 ARPC4-TTLL3 0 genome.wustl.edu 37 3 9839414 9839416 + In_Frame_Del DEL CTC CTC - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 3 9839414 9839416 CTC - DEL ARPC4-TTLL3 ENST00000397256 human ensembl 74_37 +1 known in_frame_del c.75_77 p.S27in_frame_del 1.000:1.000:1.000 pfam_ARPC4 pfam_TTL/TTLL_fam,pfam_ARPC4 - no_errors ARPC4-TTLL3 HGNC ENSG00000250151 114 0 0 80 12 13.0435 PAPSS1 0 genome.wustl.edu 37 4 108578093 108578094 + Frame_Shift_Del DEL CT CT - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 108578093 108578094 CT - DEL PAPSS1 ENST00000265174 human ensembl 74_37 -1 known frame_shift_del c.854_853 p.R285fs 1.000:1.000 superfamily_PUA-like_domain,tigrfam_Sulphate_adenylyltransferase pfam_Sulfurylase_cat_dom,pfam_APS_kinase,superfamily_PUA-like_domain,superfamily_P-loop_NTPase,tigrfam_Sulphate_adenylyltransferase,tigrfam_APS_kinase - no_errors PAPSS1 HGNC ENSG00000138801 150 0 0 106 15 12.3967 PET112 0 genome.wustl.edu 37 4 152679951 152679951 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 152679951 152679951 A - DEL PET112 ENST00000263985 human ensembl 74_37 -1 known frame_shift_del c.300 p.F100fs 1.000 pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,tigrfam_Apn/Gln-ADT_bsu pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,pfam_Asn/Gln_amidotransferase,superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Asn/Gln_amidotransferase,tigrfam_Apn/Gln-ADT_bsu - no_errors PET112 HGNC ENSG00000059691 145 0 0 103 21 16.9355 FSTL5 0 genome.wustl.edu 37 4 162307153 162307153 + Frame_Shift_Del DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 162307153 162307153 T - DEL FSTL5 ENST00000306100 human ensembl 74_37 -1 known frame_shift_del c.2290 p.T764fs 1.000 NULL pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL5 HGNC ENSG00000168843 123 0 0 121 7 5.46875 DDX60 0 genome.wustl.edu 37 4 169182016 169182016 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 169182016 169182016 A - DEL DDX60 ENST00000393743 human ensembl 74_37 -1 known frame_shift_del c.3398 p.L1133fs 0.961 superfamily_P-loop_NTPase pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60 HGNC ENSG00000137628 85 0 0 75 6 7.40741 NEK1 0 genome.wustl.edu 37 4 170428203 170428203 + Frame_Shift_Del DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 170428203 170428203 T - DEL NEK1 ENST00000507142 human ensembl 74_37 -1 known frame_shift_del c.1992 p.V665fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK1 HGNC ENSG00000137601 24 0 0 28 7 20 TACC3 0 genome.wustl.edu 37 4 1730308 1730308 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 1730308 1730308 C - DEL TACC3 ENST00000313288 human ensembl 74_37 +1 known frame_shift_del c.1179 p.M396fs 0.000 NULL pfam_TACC - no_errors TACC3 HGNC ENSG00000013810 136 0 0 91 22 19.469 TENM3 0 genome.wustl.edu 37 4 183713573 183713573 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 183713573 183713573 C - DEL TENM3 ENST00000406950 human ensembl 74_37 +1 known frame_shift_del c.5748 p.P1918fs 1.000 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 117 0 0 51 10 16.3934 SNX25 0 genome.wustl.edu 37 4 186272695 186272695 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 186272695 186272695 A - DEL SNX25 ENST00000264694 human ensembl 74_37 +1 known frame_shift_del c.1906 p.N638fs 1.000 NULL pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_RGS_dom,pfam_Phox,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam - no_errors SNX25 HGNC ENSG00000109762 115 0 0 70 12 14.6341 HGFAC 0 genome.wustl.edu 37 4 3446132 3446132 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 3446132 3446132 C - DEL HGFAC ENST00000382774 human ensembl 74_37 +1 known frame_shift_del c.693 p.F231fs 0.000 pirsf_Coagulation_fac_XIIa/HGFA,pfam_Fibronectin_type1,smart_Fibronectin_type1,pfscan_Fibronectin_type1 pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGFAC HGNC ENSG00000109758 24 0 0 16 4 20 ZNF141 0 genome.wustl.edu 37 4 367382 367382 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 367382 367382 A - DEL ZNF141 ENST00000240499 human ensembl 74_37 +1 known frame_shift_del c.1156 p.I388fs 0.975 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 ZNF141 HGNC ENSG00000131127 75 0 0 58 11 15.942 TBC1D1 0 genome.wustl.edu 37 4 38046057 38046058 + Frame_Shift_Ins INS - - A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 38046057 38046058 - A INS TBC1D1 ENST00000261439 human ensembl 74_37 +1 known frame_shift_ins c.1488_1489 p.N497fs 1.000:1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D1 HGNC ENSG00000065882 133 0 0 102 9 8.10811 KLF3 0 genome.wustl.edu 37 4 38691454 38691454 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 38691454 38691454 C - DEL KLF3 ENST00000261438 human ensembl 74_37 +1 known frame_shift_del c.649 p.L219fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF3 HGNC ENSG00000109787 171 0 0 118 8 6.34921 KLF3 0 genome.wustl.edu 37 4 38691475 38691476 + Frame_Shift_Ins INS - - C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 38691475 38691476 - C INS KLF3 ENST00000261438 human ensembl 74_37 +1 known frame_shift_ins c.670_671 p.Q227fs 1.000:1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF3 HGNC ENSG00000109787 170 0 0 125 7 5.30303 EPHA5 0 genome.wustl.edu 37 4 66286254 66286255 + Frame_Shift_Ins INS - - T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 66286254 66286255 - T INS EPHA5 ENST00000273854 human ensembl 74_37 -1 known frame_shift_ins c.1432_1431 p.G477fs 1.000:0.954 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 77 0 0 48 13 21.3115 TIGD2 0 genome.wustl.edu 37 4 90035667 90035667 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 4 90035667 90035667 A - DEL TIGD2 ENST00000317005 human ensembl 74_37 +1 known frame_shift_del c.1542 p.K516fs 0.996 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD2 HGNC ENSG00000180346 106 0 0 83 12 12.6316 PKD2L2 0 genome.wustl.edu 37 5 137260772 137260772 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 137260772 137260772 A - DEL PKD2L2 ENST00000508883 human ensembl 74_37 +1 known frame_shift_del c.1595 p.D534fs 0.000 NULL pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2 - no_errors PKD2L2 HGNC ENSG00000078795 71 0 0 50 10 16.6667 CDC25C 0 genome.wustl.edu 37 5 137627690 137627690 + Frame_Shift_Del DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 137627690 137627690 T - DEL CDC25C ENST00000323760 human ensembl 74_37 -1 known frame_shift_del c.731 p.K244fs 0.395 pfam_MPI_Phosphatase pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25C HGNC ENSG00000158402 129 1 0.769231 101 16 13.6752 PCDHB5 0 genome.wustl.edu 37 5 140515436 140515436 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 140515436 140515436 A - DEL PCDHB5 ENST00000231134 human ensembl 74_37 +1 known frame_shift_del c.420 p.I142fs 0.146 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB5 HGNC ENSG00000113209 134 0 0 95 19 16.6667 PCDHGA12 0 genome.wustl.edu 37 5 140810686 140810688 + In_Frame_Del DEL AGT AGT - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 AGT AGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 140810686 140810688 AGT - DEL PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known in_frame_del c.360_362 p.V121in_frame_del 0.996:0.998:0.999 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 178 0 0 132 19 12.5828 ARAP3 0 genome.wustl.edu 37 5 141052865 141052866 + RNA INS - - C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 141052865 141052866 - C INS ARAP3 ENST00000524066 human ensembl 74_37 -1 putative rna NULL NULL 0.000:0.001 - - - no_errors ARAP3 HGNC ENSG00000120318 17 0 0 6 5 45.4545 TRIO 0 genome.wustl.edu 37 5 14488156 14488156 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 14488156 14488156 C - DEL TRIO ENST00000344204 human ensembl 74_37 +1 known frame_shift_del c.7419 p.S2476fs 0.021 NULL pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 24 0 0 11 5 31.25 TCERG1 0 genome.wustl.edu 37 5 145886723 145886723 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 145886723 145886723 A - DEL TCERG1 ENST00000296702 human ensembl 74_37 +1 known frame_shift_del c.2863 p.K957fs 1.000 pfam_FF_domain,superfamily_FF_domain,smart_FF_domain pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1 HGNC ENSG00000113649 140 0 0 100 25 20 PPARGC1B 0 genome.wustl.edu 37 5 149206386 149206386 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 149206386 149206386 C - DEL PPARGC1B ENST00000309241 human ensembl 74_37 +1 known frame_shift_del c.403 p.S137fs 0.982 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1B HGNC ENSG00000155846 132 0 0 80 17 17.5258 RNF130 0 genome.wustl.edu 37 5 179382606 179382607 + RNA INS - - T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 179382606 179382607 - T INS RNF130 ENST00000520564 human ensembl 74_37 -1 putative rna NULL NULL 1.000:1.000 - - - no_errors RNF130 HGNC ENSG00000113269 99 0 0 81 7 7.95455 UGT3A2 0 genome.wustl.edu 37 5 36049012 36049012 + Frame_Shift_Del DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 36049012 36049012 T - DEL UGT3A2 ENST00000282507 human ensembl 74_37 -1 known frame_shift_del c.822 p.K274fs 1.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A2 HGNC ENSG00000168671 129 0 0 81 16 16.4948 NIPBL 0 genome.wustl.edu 37 5 36995693 36995693 + RNA DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 36995693 36995693 T - DEL NIPBL ENST00000503274 human ensembl 74_37 +1 known rna NULL NULL 0.879 - - - no_errors NIPBL HGNC ENSG00000164190 43 0 0 21 10 32.2581 SNX18 0 genome.wustl.edu 37 5 53814417 53814418 + Frame_Shift_Ins INS - - A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 53814417 53814418 - A INS SNX18 ENST00000326277 human ensembl 74_37 +1 known frame_shift_ins c.635_636 p.Q213fs 0.994:0.995 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 SNX18 HGNC ENSG00000178996 49 0 0 35 5 12.5 SREK1 0 genome.wustl.edu 37 5 65465943 65465943 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 65465943 65465943 A - DEL SREK1 ENST00000334121 human ensembl 74_37 +1 known frame_shift_del c.1066 p.K357fs 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SREK1 HGNC ENSG00000153914 54 0 0 47 10 17.5439 PIK3R1 0 genome.wustl.edu 37 5 67592032 67592033 + Frame_Shift_Ins INS - - C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 67592032 67592033 - C INS PIK3R1 ENST00000396611 human ensembl 74_37 +1 known frame_shift_ins c.1872_1873 p.H625fs 0.995:1.000 NULL pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC ENSG00000145675 155 0 0 113 11 8.87097 BDP1 0 genome.wustl.edu 37 5 70785246 70785246 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 70785246 70785246 G - DEL BDP1 ENST00000358731 human ensembl 74_37 +1 known frame_shift_del c.1229 p.C410fs 0.051 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 83 0 0 65 7 9.72222 MRPS27 0 genome.wustl.edu 37 5 71615931 71615932 + RNA INS - - A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 71615931 71615932 - A INS MRPS27 ENST00000523654 human ensembl 74_37 -1 known rna NULL NULL 0.002:0.005 - - - no_errors MRPS27 HGNC ENSG00000113048 67 0 0 49 10 16.9492 TBCA 0 genome.wustl.edu 37 5 76989051 76989051 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 76989051 76989051 A - DEL TBCA ENST00000306388 human ensembl 74_37 -1 putative frame_shift_del c.286 p.S96fs 0.176 NULL pfam_CofA_tubulin-bd,superfamily_CofA_tubulin-bd - no_errors TBCA HGNC ENSG00000171530 22 0 0 13 6 31.5789 MSH3 0 genome.wustl.edu 37 5 79970915 79970915 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 5 79970915 79970915 A - DEL MSH3 ENST00000265081 human ensembl 74_37 +1 known frame_shift_del c.1141 p.K383fs 0.982 pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mmatch_repair_MutS_con_dom pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH3 HGNC ENSG00000113318 250 1 0.398406 123 78 38.806 ASCC3 0 genome.wustl.edu 37 6 101296336 101296336 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 101296336 101296336 A - DEL ASCC3 ENST00000369162 human ensembl 74_37 -1 known frame_shift_del c.489 p.F163fs 1.000 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 85 0 0 61 15 19.7368 ENSG00000271730 0 genome.wustl.edu 37 6 109319968 109319969 + RNA DEL AA AA - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 109319968 109319969 AA - DEL ENSG00000271730 ENST00000605885 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-787I22.3 Clone_based_vega_gene ENSG00000271730 84 0 0 48 22 31.4286 REV3L 0 genome.wustl.edu 37 6 111672996 111672997 + Splice_Site INS - - A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 111672996 111672997 - A INS REV3L ENST00000358835 human ensembl 74_37 -1 known splice_site_ins c.7185-3_7185-2 e19-2 1.000:0.976 - - - no_errors REV3L HGNC ENSG00000009413 46 0 0 54 8 12.9032 REV3L 0 genome.wustl.edu 37 6 111689017 111689017 + Frame_Shift_Del DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 111689017 111689017 T - DEL REV3L ENST00000358835 human ensembl 74_37 -1 known frame_shift_del c.5974 p.I1992fs 1.000 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 144 0 0 114 6 5 ROS1 0 genome.wustl.edu 37 6 117622204 117622205 + Frame_Shift_Ins INS - - A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 117622204 117622205 - A INS ROS1 ENST00000368508 human ensembl 74_37 -1 known frame_shift_ins c.6666_6665 p.N2224fs 0.602:0.390 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 119 0 0 88 8 8.33333 ARHGAP18 0 genome.wustl.edu 37 6 129901237 129901238 + Frame_Shift_Ins INS - - A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 129901237 129901238 - A INS ARHGAP18 ENST00000368149 human ensembl 74_37 -1 known frame_shift_ins c.1878_1877 p.L626fs 1.000:1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP18 HGNC ENSG00000146376 68 0 0 64 8 11.1111 SYNE1 0 genome.wustl.edu 37 6 152615204 152615205 + Frame_Shift_Ins INS - - T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 152615204 152615205 - T INS SYNE1 ENST00000265368 human ensembl 74_37 -1 known frame_shift_ins c.17741_17740 p.I5914fs 0.139:0.141 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 106 0 0 77 15 16.3043 JARID2 0 genome.wustl.edu 37 6 15496722 15496722 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 15496722 15496722 G - DEL JARID2 ENST00000341776 human ensembl 74_37 +1 known frame_shift_del c.1266 p.R425fs 0.963 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 113 0 0 69 14 16.8675 PLG 0 genome.wustl.edu 37 6 161139450 161139451 + Frame_Shift_Ins INS - - CA TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 161139450 161139451 - CA INS PLG ENST00000308192 human ensembl 74_37 +1 known frame_shift_ins c.912_913 p.N307fs 1.000:1.000 pirsf_Pept_S1A_plasmin,pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pirsf_Pept_S1A_plasmin,pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors PLG HGNC ENSG00000122194 172 0 0 169 16 8.64865 PHF1 0 genome.wustl.edu 37 6 33382566 33382566 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 33382566 33382566 C - DEL PHF1 ENST00000374516 human ensembl 74_37 +1 known frame_shift_del c.1009 p.P338fs 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF1 HGNC ENSG00000112511 127 0 0 108 10 8.47458 PNPLA1 0 genome.wustl.edu 37 6 36260882 36260882 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 36260882 36260882 C - DEL PNPLA1 ENST00000457797 human ensembl 74_37 +1 known frame_shift_del c.486 p.P164fs 0.985 superfamily_Acyl_Trfase/lysoPLipase pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA1 HGNC ENSG00000180316 155 0 0 116 10 7.93651 ABCC10 0 genome.wustl.edu 37 6 43416650 43416650 + Frame_Shift_Del DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 43416650 43416650 T - DEL ABCC10 ENST00000372530 human ensembl 74_37 +1 known frame_shift_del c.3991 p.L1332fs 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC10 HGNC ENSG00000124574 107 0 0 79 7 8.13953 DST 0 genome.wustl.edu 37 6 56485020 56485020 + Frame_Shift_Del DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 56485020 56485020 T - DEL DST ENST00000370765 human ensembl 74_37 -1 known frame_shift_del c.3812 p.N1271fs 0.000 NULL pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DST HGNC ENSG00000151914 56 0 0 55 11 16.6667 KIAA1586 0 genome.wustl.edu 37 6 56917909 56917909 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 56917909 56917909 A - DEL KIAA1586 ENST00000370733 human ensembl 74_37 +1 known frame_shift_del c.612 p.I207fs 0.018 NULL superfamily_RNaseH-like_dom - no_errors KIAA1586 HGNC ENSG00000168116 93 0 0 60 11 15.493 RIMS1 0 genome.wustl.edu 37 6 72892075 72892075 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 72892075 72892075 G - DEL RIMS1 ENST00000521978 human ensembl 74_37 +1 known frame_shift_del c.901 p.V301fs 0.656 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 RIMS1 HGNC ENSG00000079841 80 0 0 46 9 16.3636 SLC17A5 0 genome.wustl.edu 37 6 74351590 74351590 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 74351590 74351590 A - DEL SLC17A5 ENST00000355773 human ensembl 74_37 -1 known frame_shift_del c.349 p.Y117fs 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A5 HGNC ENSG00000119899 247 0 0 236 19 7.45098 TTK 0 genome.wustl.edu 37 6 80751897 80751897 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 80751897 80751897 A - DEL TTK ENST00000369798 human ensembl 74_37 +1 known frame_shift_del c.2552 p.R854fs 0.102 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTK HGNC ENSG00000112742 84 0 0 47 11 18.9655 KIAA1009 0 genome.wustl.edu 37 6 84896232 84896233 + Frame_Shift_Ins INS - - A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 84896232 84896233 - A INS KIAA1009 ENST00000403245 human ensembl 74_37 -1 known frame_shift_ins c.1219_1218 p.D406fs 0.000:0.000 NULL NULL - no_errors KIAA1009 HGNC ENSG00000135315 168 0 0 137 18 11.6129 MAP3K7 0 genome.wustl.edu 37 6 91226170 91226170 + RNA DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 6 91226170 91226170 A - DEL MAP3K7 ENST00000479630 human ensembl 74_37 -1 known rna NULL NULL 0.947 - - - no_errors MAP3K7 HGNC ENSG00000135341 60 0 0 42 13 23.6364 PLOD3 0 genome.wustl.edu 37 7 100855927 100855927 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 100855927 100855927 G - DEL PLOD3 ENST00000223127 human ensembl 74_37 -1 known frame_shift_del c.889 p.R297fs 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD3 HGNC ENSG00000106397 96 0 0 55 7 11.2903 CUX1 0 genome.wustl.edu 37 7 101839974 101839974 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 101839974 101839974 C - DEL CUX1 ENST00000360264 human ensembl 74_37 +1 known frame_shift_del c.1316 p.P441fs 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC ENSG00000257923 153 0 0 103 28 21.374 BCAP29 0 genome.wustl.edu 37 7 107258914 107258914 + Frame_Shift_Del DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 107258914 107258914 T - DEL BCAP29 ENST00000379119 human ensembl 74_37 +1 known frame_shift_del c.911 p.L306fs 0.000 NULL pfam_Bap31 - no_errors BCAP29 HGNC ENSG00000075790 76 0 0 28 5 15.1515 CPED1 0 genome.wustl.edu 37 7 120911387 120911388 + Frame_Shift_Ins INS - - A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 120911387 120911388 - A INS CPED1 ENST00000310396 human ensembl 74_37 +1 known frame_shift_ins c.2771_2772 p.H927fs 1.000:1.000 NULL NULL - no_errors CPED1 HGNC ENSG00000106034 112 0 0 74 7 8.64198 ZNF425 0 genome.wustl.edu 37 7 148809432 148809434 + RNA DEL AAT AAT - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 AAT AAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 148809432 148809434 AAT - DEL ZNF425 ENST00000484196 human ensembl 74_37 -1 known rna NULL NULL 0.005:0.005:0.006 - - - no_errors ZNF425 HGNC ENSG00000204947 214 0 0 131 33 20.122 XRCC2 0 genome.wustl.edu 37 7 152345759 152345760 + Frame_Shift_Ins INS - - A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 152345759 152345760 - A INS XRCC2 ENST00000359321 human ensembl 74_37 -1 known frame_shift_ins c.811_810 p.I270fs 1.000:1.000 superfamily_P-loop_NTPase pfam_DNA_recomb/repair_Rad51_C,superfamily_P-loop_NTPase,pfscan_DNA_recomb_RecA/RadB_ATP-bd - no_errors XRCC2 HGNC ENSG00000196584 82 0 0 46 13 22.0339 WDR60 0 genome.wustl.edu 37 7 158734830 158734830 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 158734830 158734830 C - DEL WDR60 ENST00000407559 human ensembl 74_37 +1 known frame_shift_del c.2993 p.N1000fs 0.120 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR60 HGNC ENSG00000126870 100 0 0 65 8 10.9589 IGF2BP3 0 genome.wustl.edu 37 7 23385595 23385596 + Frame_Shift_Ins INS - - T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 23385595 23385596 - T INS IGF2BP3 ENST00000258729 human ensembl 74_37 -1 known frame_shift_ins c.905_904 p.I302fs 1.000:1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP3 HGNC ENSG00000136231 121 0 0 47 21 30.8824 HOXA10 0 genome.wustl.edu 37 7 27213837 27213837 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 27213837 27213837 A - DEL HOXA10 ENST00000283921 human ensembl 74_37 -1 known frame_shift_del c.89 p.L30fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXA10 HGNC ENSG00000253293 157 1 0.632911 94 17 15.3153 HERPUD2 0 genome.wustl.edu 37 7 35709922 35709923 + Frame_Shift_Del DEL AT AT - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 35709922 35709923 AT - DEL HERPUD2 ENST00000311350 human ensembl 74_37 -1 known frame_shift_del c.242_241 p.M81fs 1.000:1.000 pfam_Ubiquitin_dom,smart_Ubiquitin_dom pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors HERPUD2 HGNC ENSG00000122557 83 0 0 65 7 9.72222 SDK1 0 genome.wustl.edu 37 7 4185504 4185504 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 4185504 4185504 G - DEL SDK1 ENST00000404826 human ensembl 74_37 +1 known frame_shift_del c.4379 p.E1462fs 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 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 106 0 0 93 5 5.10204 DTX2P1-UPK3BP1-PMS2P11 0 genome.wustl.edu 37 7 76610355 76610356 + RNA INS - - C TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 76610355 76610356 - C INS DTX2P1-UPK3BP1-PMS2P11 ENST00000584900 human ensembl 74_37 +1 known rna NULL NULL 0.918:0.847 - - - no_errors DTX2P1-UPK3BP1-PMS2P11 HGNC ENSG00000265479 183 1 0.543478 116 16 12.1212 AKAP9 0 genome.wustl.edu 37 7 91603085 91603085 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 91603085 91603085 A - DEL AKAP9 ENST00000359028 human ensembl 74_37 +1 known frame_shift_del c.145 p.K51fs 1.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 64 0 0 40 12 23.0769 BAIAP2L1 0 genome.wustl.edu 37 7 97939854 97939854 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 7 97939854 97939854 G - DEL BAIAP2L1 ENST00000005260 human ensembl 74_37 -1 known frame_shift_del c.858 p.A287fs 0.002 NULL pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2L1 HGNC ENSG00000006453 141 0 0 83 17 17 NACAP1 0 genome.wustl.edu 37 8 102381883 102381884 + RNA DEL AA AA - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 102381883 102381884 AA - DEL NACAP1 ENST00000419462 human ensembl 74_37 +1 known rna NULL NULL 0.879:0.891 - - - no_errors NACAP1 HGNC ENSG00000228224 24 0 0 24 4 14.2857 UBR5 0 genome.wustl.edu 37 8 103289349 103289349 + Frame_Shift_Del DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 103289349 103289349 T - DEL UBR5 ENST00000520539 human ensembl 74_37 -1 known frame_shift_del c.6360 p.E2121fs 0.987 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 148 0 0 118 13 9.92366 PKHD1L1 0 genome.wustl.edu 37 8 110476645 110476647 + In_Frame_Del DEL AGA AGA - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 110476645 110476647 AGA - DEL PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known in_frame_del c.7584_7586 p.E2529in_frame_del 0.998:1.000:1.000 superfamily_Pectin_lyase_fold/virulence,smart_PbH1 pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 60 0 0 27 6 18.1818 KCNV1 0 genome.wustl.edu 37 8 110986380 110986380 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 110986380 110986380 C - DEL KCNV1 ENST00000297404 human ensembl 74_37 -1 known frame_shift_del c.238 p.A80fs 0.053 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4 - no_errors KCNV1 HGNC ENSG00000164794 28 0 0 21 2 8.69565 FER1L6 0 genome.wustl.edu 37 8 125033884 125033884 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 125033884 125033884 A - DEL FER1L6 ENST00000399018 human ensembl 74_37 +1 known frame_shift_del c.2108 p.I705fs 0.993 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom - no_errors FER1L6 HGNC ENSG00000214814 143 0 0 134 17 11.2583 KCNQ3 0 genome.wustl.edu 37 8 133150233 133150233 + Frame_Shift_Del DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 133150233 133150233 T - DEL KCNQ3 ENST00000388996 human ensembl 74_37 -1 known frame_shift_del c.1599 p.K533fs 0.715 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 174 0 0 139 19 12.0253 PHF20L1 0 genome.wustl.edu 37 8 133823330 133823330 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 133823330 133823330 A - DEL PHF20L1 ENST00000395386 human ensembl 74_37 +1 putative frame_shift_del c.887 p.K298fs 1.000 pfam_DUF3776 pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Tudor-like_plant - no_errors PHF20L1 HGNC ENSG00000129292 141 0 0 118 25 17.4825 PHF20L1 0 genome.wustl.edu 37 8 133826908 133826909 + Frame_Shift_Ins INS - - A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 133826908 133826909 - A INS PHF20L1 ENST00000395386 human ensembl 74_37 +1 putative frame_shift_ins c.957_958 p.N321fs 1.000:1.000 NULL pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Tudor-like_plant - no_errors PHF20L1 HGNC ENSG00000129292 95 0 0 80 7 8.04598 FBXL6 0 genome.wustl.edu 37 8 145579697 145579697 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 145579697 145579697 G - DEL FBXL6 ENST00000331890 human ensembl 74_37 -1 known frame_shift_del c.1403 p.P468fs 0.000 NULL superfamily_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors FBXL6 HGNC ENSG00000182325 178 0 0 118 9 7.08661 PSD3 0 genome.wustl.edu 37 8 18393262 18393262 + Frame_Shift_Del DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 18393262 18393262 T - DEL PSD3 ENST00000440756 human ensembl 74_37 -1 known frame_shift_del c.3141 p.V1048fs 1.000 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors PSD3 HGNC ENSG00000156011 125 0 0 118 10 7.8125 EGR3 0 genome.wustl.edu 37 8 22548549 22548550 + Frame_Shift_Ins INS - - G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 22548549 22548550 - G INS EGR3 ENST00000317216 human ensembl 74_37 -1 known frame_shift_ins c.601_600 p.N200fs 1.000:0.999 NULL pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR3 HGNC ENSG00000179388 114 0 0 85 6 6.59341 RHOBTB2 0 genome.wustl.edu 37 8 22864476 22864476 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 22864476 22864476 C - DEL RHOBTB2 ENST00000251822 human ensembl 74_37 +1 known frame_shift_del c.718 p.P241fs 0.990 superfamily_BTB/POZ_fold pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB2 HGNC ENSG00000008853 172 0 0 141 12 7.84314 DOCK5 0 genome.wustl.edu 37 8 25257429 25257429 + Frame_Shift_Del DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 25257429 25257429 T - DEL DOCK5 ENST00000276440 human ensembl 74_37 +1 known frame_shift_del c.4707 p.F1571fs 0.166 pfam_DOCK_C pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK5 HGNC ENSG00000147459 33 0 0 17 8 32 TEX15 0 genome.wustl.edu 37 8 30695196 30695197 + Frame_Shift_Ins INS - - G TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 30695196 30695197 - G INS TEX15 ENST00000256246 human ensembl 74_37 -1 known frame_shift_ins c.7455_7454 p.D2486fs 0.003:0.002 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 209 0 0 129 9 6.52174 ASPH 0 genome.wustl.edu 37 8 62588723 62588724 + In_Frame_Ins INS - - TTC TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 8 62588723 62588724 - TTC INS ASPH ENST00000379449 human ensembl 74_37 -1 putative in_frame_ins c.523_522 p.174in_frame_insE 1.000:1.000 NULL pfam_Asp-B-hydro/Triadin_dom - no_errors ASPH HGNC ENSG00000198363 68 0 0 49 11 18.3333 CACNA1B 0 genome.wustl.edu 37 9 141016157 141016157 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 141016157 141016157 C - DEL CACNA1B ENST00000371355 human ensembl 74_37 +1 known frame_shift_del c.6729 p.L2245fs 0.987 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 91 0 0 68 9 11.6883 SLC24A2 0 genome.wustl.edu 37 9 19786765 19786766 + Frame_Shift_Ins INS - - T TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 19786765 19786766 - T INS SLC24A2 ENST00000341998 human ensembl 74_37 -1 known frame_shift_ins c.100_99 p.L33fs 1.000:1.000 NULL pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A2 HGNC ENSG00000155886 213 0 0 162 31 16.0622 TESK1 0 genome.wustl.edu 37 9 35606843 35606843 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 35606843 35606843 G - DEL TESK1 ENST00000336395 human ensembl 74_37 +1 known frame_shift_del c.400 p.T136fs 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,prints_Ser-Thr/Tyr_kinase_cat_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 TESK1 HGNC ENSG00000107140 106 0 0 89 15 14.4231 PRKACG 0 genome.wustl.edu 37 9 71628985 71628987 + In_Frame_Del DEL CTT CTT - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 71628985 71628987 CTT - DEL PRKACG ENST00000377276 human ensembl 74_37 -1 known in_frame_del c.24_22 p.K8in_frame_del 1.000:1.000:1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKACG HGNC ENSG00000165059 67 0 0 48 10 17.2414 ZCCHC6 0 genome.wustl.edu 37 9 88937823 88937823 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 88937823 88937823 A - DEL ZCCHC6 ENST00000375963 human ensembl 74_37 -1 known frame_shift_del c.2842 p.Y948fs 1.000 NULL pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC6 HGNC ENSG00000083223 63 0 0 36 10 21.7391 PHF2 0 genome.wustl.edu 37 9 96422612 96422612 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 96422612 96422612 A - DEL PHF2 ENST00000359246 human ensembl 74_37 +1 known frame_shift_del c.1468 p.K492fs 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 33 0 0 15 3 16.6667 ZNF169 0 genome.wustl.edu 37 9 97062695 97062695 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb 9 97062695 97062695 G - DEL ZNF169 ENST00000395395 human ensembl 74_37 +1 known frame_shift_del c.855 p.E287fs 0.180 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 ZNF169 HGNC ENSG00000175787 134 0 0 108 11 9.2437 CLCN4 0 genome.wustl.edu 37 X 10188763 10188763 + Frame_Shift_Del DEL C C - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb X 10188763 10188763 C - DEL CLCN4 ENST00000380833 human ensembl 74_37 +1 known frame_shift_del c.2038 p.E682fs 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-4 - no_errors CLCN4 HGNC ENSG00000073464 140 0 0 86 34 28.3333 USP26 0 genome.wustl.edu 37 X 132161204 132161205 + Frame_Shift_Ins INS - - A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb X 132161204 132161205 - A INS USP26 ENST00000370832 human ensembl 74_37 -1 known frame_shift_ins c.1045_1044 p.K348fs 0.813:0.541 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP26 HGNC ENSG00000134588 55 0 0 44 8 15.3846 MCF2 0 genome.wustl.edu 37 X 138678778 138678779 + Frame_Shift_Ins INS - - A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb X 138678778 138678779 - A INS MCF2 ENST00000370578 human ensembl 74_37 -1 known frame_shift_ins c.2642_2641 p.C881fs 1.000:1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2 HGNC ENSG00000101977 67 0 0 29 19 39.5833 SPANXC 0 genome.wustl.edu 37 X 140335820 140335820 + Frame_Shift_Del DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb X 140335820 140335820 T - DEL SPANXC ENST00000358993 human ensembl 74_37 -1 known frame_shift_del c.124 p.M42fs 0.004 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXC HGNC ENSG00000198573 235 0 0 187 13 6.5 SSR4 0 genome.wustl.edu 37 X 153062042 153062042 + RNA DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb X 153062042 153062042 G - DEL SSR4 ENST00000482902 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SSR4 HGNC ENSG00000180879 100 0 0 56 14 20 ASMTL 0 genome.wustl.edu 37 X 1546792 1546792 + Frame_Shift_Del DEL G G - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb X 1546792 1546792 G - DEL ASMTL ENST00000381317 human ensembl 74_37 -1 known frame_shift_del c.732 p.G245fs 0.002 NULL pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf - no_errors ASMTL HGNC ENSG00000169093 138 0 0 106 6 5.35714 ACE2 0 genome.wustl.edu 37 X 15613095 15613095 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb X 15613095 15613095 A - DEL ACE2 ENST00000252519 human ensembl 74_37 -1 known frame_shift_del c.218 p.L73fs 0.976 pfam_Peptidase_M2 pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE2 HGNC ENSG00000130234 169 0 0 108 16 12.9032 PDK3 0 genome.wustl.edu 37 X 24512887 24512888 + Frame_Shift_Del DEL AT AT - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb X 24512887 24512888 AT - DEL PDK3 ENST00000441463 human ensembl 74_37 +1 known frame_shift_del c.135_136 p.M47fs 0.388:0.984 pfam_BCDHK/PDK_N,superfamily_BCDHK/PDK_N pfam_BCDHK/PDK_N,pfam_HATPase_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pfscan_Sig_transdc_His_kinase_core - no_errors PDK3 HGNC ENSG00000067992 28 0 0 23 6 20.6897 PJA1 0 genome.wustl.edu 37 X 68382257 68382257 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb X 68382257 68382257 A - DEL PJA1 ENST00000361478 human ensembl 74_37 -1 known frame_shift_del c.825 p.F275fs 0.996 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA1 HGNC ENSG00000181191 61 0 0 54 5 8.47458 TEX11 0 genome.wustl.edu 37 X 70127618 70127618 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb X 70127618 70127618 A - DEL TEX11 ENST00000374333 human ensembl 74_37 -1 known frame_shift_del c.22 p.S8fs 0.008 NULL pfam_Meiosis_specific_SPO22,smart_TPR_repeat - no_errors TEX11 HGNC ENSG00000120498 31 0 0 15 17 53.125 PHKA1 0 genome.wustl.edu 37 X 71843096 71843096 + Frame_Shift_Del DEL A A - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb X 71843096 71843096 A - DEL PHKA1 ENST00000373539 human ensembl 74_37 -1 known frame_shift_del c.1823 p.L608fs 1.000 pfam_Glyco_hydro_15 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA1 HGNC ENSG00000067177 42 0 0 24 3 11.1111 XIST 0 genome.wustl.edu 37 X 73046080 73046080 + RNA DEL T T - TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb X 73046080 73046080 T - DEL XIST ENST00000416330 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 99 0 0 28 26 48.1481 ATRX 0 genome.wustl.edu 37 X 76763771 76763772 + RNA INS - - A TCGA-HU-A4GN-01A-11D-A25D-08 TCGA-HU-A4GN-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd0249c5-ed73-4e8d-9b9e-96104b90255a 33760dd2-5baf-4630-b7dc-3f3597d6debb X 76763771 76763772 - A INS ATRX ENST00000480283 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors ATRX HGNC ENSG00000085224 29 0 0 14 8 36.3636