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 UBE4B 0 genome.wustl.edu 37 1 10231304 10231304 + Missense_Mutation SNP C C G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 10231304 10231304 C G SNP UBE4B ENST00000343090 human ensembl 74_37 +1 known missense c.3442 p.P1148A 1.000 pfam_Ub_conjug_fac_E4_core pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4B HGNC ENSG00000130939 203 0 0 90 63 41.1765 KIF1B 0 genome.wustl.edu 37 1 10355753 10355753 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 10355753 10355753 T C SNP KIF1B ENST00000263934 human ensembl 74_37 +1 known missense c.1568 p.I523T 1.000 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 KIF1B HGNC ENSG00000054523 152 0 0 84 5 5.61798 PEX14 0 genome.wustl.edu 37 1 10690008 10690008 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 10690008 10690008 G A SNP PEX14 ENST00000356607 human ensembl 74_37 +1 known silent c.1098 p.R366 1.000 NULL pfam_Pex14_N - no_errors PEX14 HGNC ENSG00000142655 74 0 0 44 6 12 ENSG00000272078 0 genome.wustl.edu 37 1 10713402 10713402 + RNA SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 10713402 10713402 C T SNP ENSG00000272078 ENST00000606802 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP4-734G22.3 Clone_based_vega_gene ENSG00000272078 95 0 0 41 14 25.4545 SARS 0 genome.wustl.edu 37 1 109778615 109778615 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 109778615 109778615 A G SNP SARS ENST00000369923 human ensembl 74_37 +1 known missense c.986 p.Y329C 1.000 pfam_aa-tRNA-synt_IIb_cons-dom,pirsf_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,prints_Ser-tRNA-ligase_type_1,tigrfam_Ser-tRNA-ligase_type_1 pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Ser-tRNA-synth_1_N,superfamily_tRNA-bd_arm,pirsf_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,prints_Ser-tRNA-ligase_type_1,tigrfam_Ser-tRNA-ligase_type_1 - no_errors SARS HGNC ENSG00000031698 78 0 0 60 5 7.69231 CELSR2 0 genome.wustl.edu 37 1 109795382 109795382 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 109795382 109795382 T C SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known missense c.2681 p.V894A 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 108 0 0 79 26 24.7619 AMIGO1 0 genome.wustl.edu 37 1 110051154 110051154 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 110051154 110051154 C T SNP AMIGO1 ENST00000369862 human ensembl 74_37 -1 known silent c.381 p.E127 0.996 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_Ig_I-set,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_Ig-like_dom - no_errors AMIGO1 HGNC ENSG00000181754 124 0 0 72 18 20 KCNC4 0 genome.wustl.edu 37 1 110765982 110765982 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 110765982 110765982 A G SNP KCNC4 ENST00000369787 human ensembl 74_37 +1 known missense c.1075 p.K359E 1.000 pfam_Ion_trans_dom,prints_K_chnl,prints_K_chnl_volt-dep_Kv 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 61 0 0 34 24 41.3793 TARDBP 0 genome.wustl.edu 37 1 11076929 11076929 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 11076929 11076929 T C SNP TARDBP ENST00000240185 human ensembl 74_37 +1 known silent c.267 p.D89 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TARDBP HGNC ENSG00000120948 47 0 0 34 9 20.9302 KCNA3 0 genome.wustl.edu 37 1 111216001 111216001 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 111216001 111216001 G A SNP KCNA3 ENST00000369769 human ensembl 74_37 -1 known silent c.1431 p.P477 0.021 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl,prints_K_chnl_volt-dep_Kv 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 66 0 0 79 6 7.05882 TTLL10 0 genome.wustl.edu 37 1 1115538 1115538 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 1115538 1115538 T C SNP TTLL10 ENST00000379289 human ensembl 74_37 +1 known silent c.324 p.S108 0.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL10 HGNC ENSG00000162571 22 0 0 12 11 47.8261 CHIAP2 0 genome.wustl.edu 37 1 111824383 111824383 + RNA SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 111824383 111824383 C T SNP CHIAP2 ENST00000369743 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CHIAP2 HGNC ENSG00000203878 31 0 0 21 8 27.5862 PTPN22 0 genome.wustl.edu 37 1 114401660 114401660 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 114401660 114401660 A G SNP PTPN22 ENST00000359785 human ensembl 74_37 -1 known silent c.237 p.D79 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Non-rcpt_Tyr_Pase_8/22,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Non-rcpt_Tyr_Pase_8/22,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN22 HGNC ENSG00000134242 45 0 0 19 5 20.8333 PTCHD2 0 genome.wustl.edu 37 1 11580781 11580781 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 11580781 11580781 C T SNP PTCHD2 ENST00000294484 human ensembl 74_37 +1 known silent c.2238 p.F746 0.998 pfam_Patched pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 85 0 0 34 19 35.8491 PTCHD2 0 genome.wustl.edu 37 1 11591751 11591751 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 11591751 11591751 C T SNP PTCHD2 ENST00000294484 human ensembl 74_37 +1 known missense c.3359 p.S1120F 1.000 NULL pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 61 0 0 38 17 30.9091 ATP1A1 0 genome.wustl.edu 37 1 116935565 116935565 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 116935565 116935565 C T SNP ATP1A1 ENST00000295598 human ensembl 74_37 +1 known silent c.1422 p.Y474 0.025 pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A1 HGNC ENSG00000163399 128 0 0 60 43 41.7476 ATP1A1 0 genome.wustl.edu 37 1 116941581 116941581 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 116941581 116941581 T C SNP ATP1A1 ENST00000295598 human ensembl 74_37 +1 known missense c.2323 p.S775P 1.000 tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A1 HGNC ENSG00000163399 135 0 0 67 20 22.9885 IGSF3 0 genome.wustl.edu 37 1 117127587 117127587 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 117127587 117127587 C T SNP IGSF3 ENST00000318837 human ensembl 74_37 -1 known missense c.2588 p.R863H 1.000 pfam_Ig_V-set,pfam_Immunoglobulin,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 46 0 0 32 14 30.4348 CD101 0 genome.wustl.edu 37 1 117554394 117554394 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 117554394 117554394 G A SNP CD101 ENST00000256652 human ensembl 74_37 +1 known missense c.647 p.R216Q 1.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors CD101 HGNC ENSG00000134256 50 0 0 23 16 41.0256 PLOD1 0 genome.wustl.edu 37 1 12012687 12012687 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 12012687 12012687 C T SNP PLOD1 ENST00000376369 human ensembl 74_37 +1 known silent c.615 p.I205 0.782 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD1 HGNC ENSG00000083444 126 0 0 70 4 5.40541 AADACL3 0 genome.wustl.edu 37 1 12785194 12785194 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 12785194 12785194 G A SNP AADACL3 ENST00000359318 human ensembl 74_37 +1 known missense c.284 p.R95H 0.920 pfam_AB_hydrolase_3 pfam_AB_hydrolase_3 - no_errors AADACL3 HGNC ENSG00000188984 143 1 0.694444 70 29 29.2929 VWA1 0 genome.wustl.edu 37 1 1372677 1372677 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 1372677 1372677 C T SNP VWA1 ENST00000476993 human ensembl 74_37 +1 known silent c.444 p.S148 0.221 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors VWA1 HGNC ENSG00000179403 22 0 0 20 15 42.8571 PDPN 0 genome.wustl.edu 37 1 13910569 13910569 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 13910569 13910569 C T SNP PDPN ENST00000294489 human ensembl 74_37 +1 known missense c.269 p.A90V 0.018 pfam_Podoplanin pfam_Podoplanin - no_errors PDPN HGNC ENSG00000162493 47 0 0 32 18 36 HFE2 0 genome.wustl.edu 37 1 145416863 145416863 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 145416863 145416863 T C SNP HFE2 ENST00000336751 human ensembl 74_37 +1 known missense c.1208 p.V403A 0.000 pfam_RGM_C pfam_RGM_N,pfam_RGM_C - no_errors HFE2 HGNC ENSG00000168509 112 0 0 74 5 6.32911 PIAS3 0 genome.wustl.edu 37 1 145579269 145579269 + Silent SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 145579269 145579269 C A SNP PIAS3 ENST00000393045 human ensembl 74_37 +1 known silent c.606 p.P202 0.994 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS3 HGNC ENSG00000131788 152 0 0 97 59 37.8205 NBPF12 0 genome.wustl.edu 37 1 146400181 146400181 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 146400181 146400181 C T SNP NBPF12 ENST00000442909 human ensembl 74_37 +1 novel silent c.657 p.D219 0.000 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF12 HGNC ENSG00000186275 27 0 0 38 19 33.3333 OTUD7B 0 genome.wustl.edu 37 1 149943026 149943026 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 149943026 149943026 C T SNP OTUD7B ENST00000369135 human ensembl 74_37 -1 known missense c.239 p.R80Q 1.000 NULL pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7B HGNC ENSG00000163113 113 0 0 52 51 49.5146 PRPF3 0 genome.wustl.edu 37 1 150300845 150300845 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 150300845 150300845 C T SNP PRPF3 ENST00000324862 human ensembl 74_37 +1 known missense c.343 p.R115C 1.000 NULL pfam_Pre-mRNA_splic_Prp3,pfam_DUF1115,pfam_PWI_dom,superfamily_PWI_dom,smart_PWI_dom - no_errors PRPF3 HGNC ENSG00000117360 241 1 0.413223 147 43 22.6316 TARS2 0 genome.wustl.edu 37 1 150476902 150476902 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 150476902 150476902 A G SNP TARS2 ENST00000369064 human ensembl 74_37 +1 known missense c.1709 p.Q570R 1.000 pfscan_aa-tRNA-synth_II,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 42 0 0 34 15 30.6122 MCL1 0 genome.wustl.edu 37 1 150549866 150549866 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 150549866 150549866 T C SNP MCL1 ENST00000307940 human ensembl 74_37 -1 known missense c.790 p.I264V 0.997 NULL NULL - no_errors MCL1 HGNC ENSG00000143384 267 0 0 278 58 17.2619 SEMA6C 0 genome.wustl.edu 37 1 151105901 151105901 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 151105901 151105901 C T SNP SEMA6C ENST00000368913 human ensembl 74_37 -1 known missense c.1948 p.A650T 1.000 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,pfscan_Semap_dom - no_errors SEMA6C HGNC ENSG00000143434 18 0 0 13 14 51.8519 SELENBP1 0 genome.wustl.edu 37 1 151341935 151341935 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 151341935 151341935 A G SNP SELENBP1 ENST00000426705 human ensembl 74_37 -1 known missense c.283 p.S95P 1.000 pfam_Se-bd pfam_Se-bd - no_errors SELENBP1 HGNC ENSG00000143416 22 0 0 28 11 28.2051 RORC 0 genome.wustl.edu 37 1 151783930 151783930 + RNA SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 151783930 151783930 C T SNP RORC ENST00000480719 human ensembl 74_37 -1 known rna NULL NULL 0.108 - - - no_errors RORC HGNC ENSG00000143365 28 0 0 10 5 33.3333 FLG 0 genome.wustl.edu 37 1 152279184 152279184 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 152279184 152279184 G A SNP FLG ENST00000368799 human ensembl 74_37 -1 known silent c.8178 p.G2726 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 86 0 0 175 40 18.6047 TPM3 0 genome.wustl.edu 37 1 154130051 154130051 + RNA SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 154130051 154130051 A G SNP TPM3 ENST00000312970 human ensembl 74_37 -1 known rna NULL NULL 0.756 - - - no_errors TPM3 HGNC ENSG00000143549 108 0 0 122 32 20.7792 PBXIP1 0 genome.wustl.edu 37 1 154926189 154926189 + Silent SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 154926189 154926189 G T SNP PBXIP1 ENST00000539880 human ensembl 74_37 -1 known silent c.9 p.S3 0.998 NULL NULL - no_errors PBXIP1 HGNC ENSG00000163346 32 0 0 17 11 39.2857 ADAM15 0 genome.wustl.edu 37 1 155029473 155029473 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 155029473 155029473 T C SNP ADAM15 ENST00000356955 human ensembl 74_37 +1 known silent c.1044 p.H348 0.612 pfam_Peptidase_M12B,pfscan_Peptidase_M12B 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 100 0 0 78 20 20.4082 KRTCAP2 0 genome.wustl.edu 37 1 155145709 155145709 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 155145709 155145709 G A SNP KRTCAP2 ENST00000295682 human ensembl 74_37 -1 known missense c.70 p.R24W 0.000 NULL pfam_Uncharacterised_KRTCAP2 - no_errors KRTCAP2 HGNC ENSG00000163463 41 0 0 23 14 37.8378 RUSC1 0 genome.wustl.edu 37 1 155300268 155300268 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 155300268 155300268 G A SNP RUSC1 ENST00000368352 human ensembl 74_37 +1 known missense c.2615 p.R872H 0.977 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC1 HGNC ENSG00000160753 63 0 0 66 13 16.4557 ASH1L 0 genome.wustl.edu 37 1 155451418 155451418 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 155451418 155451418 C A SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known missense c.1243 p.G415C 0.987 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 114 0 0 87 37 29.8387 YY1AP1 0 genome.wustl.edu 37 1 155630091 155630091 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 155630091 155630091 C T SNP YY1AP1 ENST00000368339 human ensembl 74_37 -1 known missense c.2024 p.R675K 0.139 NULL NULL - no_errors YY1AP1 HGNC ENSG00000163374 133 0 0 119 57 32.3864 LAMTOR2 0 genome.wustl.edu 37 1 156024741 156024741 + Missense_Mutation SNP A A C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 156024741 156024741 A C SNP LAMTOR2 ENST00000368302 human ensembl 74_37 +1 known missense c.61 p.S21R 1.000 pfam_Dynein_light-rel,smart_Dynein_light-rel pfam_Dynein_light-rel,smart_Dynein_light-rel - no_errors LAMTOR2 HGNC ENSG00000116586 29 0 0 48 4 7.69231 CDK11B 0 genome.wustl.edu 37 1 1573143 1573143 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 1573143 1573143 G T SNP CDK11B ENST00000407249 human ensembl 74_37 -1 known missense c.1454 p.P485H 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 CDK11B HGNC ENSG00000248333 272 1 0.3663 212 14 6.19469 CDK11B 0 genome.wustl.edu 37 1 1575717 1575717 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 1575717 1575717 C A SNP CDK11B ENST00000407249 human ensembl 74_37 -1 known missense c.1181 p.G394V 0.983 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK11B HGNC ENSG00000248333 50 0 0 29 7 19.4444 KCNJ10 0 genome.wustl.edu 37 1 160011281 160011281 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 160011281 160011281 G A SNP KCNJ10 ENST00000368089 human ensembl 74_37 -1 known missense c.1042 p.R348C 0.000 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 51 0 0 49 20 28.9855 ITLN2 0 genome.wustl.edu 37 1 160915016 160915016 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 160915016 160915016 A G SNP ITLN2 ENST00000368029 human ensembl 74_37 -1 known missense c.892 p.F298L 0.996 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom - no_errors ITLN2 HGNC ENSG00000158764 62 0 0 16 21 56.7568 ADAMTS4 0 genome.wustl.edu 37 1 161163162 161163162 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 161163162 161163162 C A SNP ADAMTS4 ENST00000367996 human ensembl 74_37 -1 known missense c.1752 p.E584D 1.000 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS4 HGNC ENSG00000158859 85 0 0 75 5 6.25 DDR2 0 genome.wustl.edu 37 1 162724999 162724999 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 162724999 162724999 G A SNP DDR2 ENST00000367921 human ensembl 74_37 +1 known silent c.471 p.P157 0.806 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom 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 DDR2 HGNC ENSG00000162733 101 1 0.980392 72 19 20.8791 HSD17B7 0 genome.wustl.edu 37 1 162769541 162769541 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 162769541 162769541 A G SNP HSD17B7 ENST00000254521 human ensembl 74_37 +1 known silent c.456 p.E152 0.981 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH - no_errors HSD17B7 HGNC ENSG00000132196 61 0 0 21 3 12.5 RGS4 0 genome.wustl.edu 37 1 163042651 163042651 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 163042651 163042651 A G SNP RGS4 ENST00000421743 human ensembl 74_37 +1 known missense c.497 p.H166R 1.000 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_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 RGS4 HGNC ENSG00000117152 49 0 0 21 11 34.375 SLC35E2 0 genome.wustl.edu 37 1 1663938 1663938 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 1663938 1663938 C T SNP SLC35E2 ENST00000246421 human ensembl 74_37 -1 known missense c.757 p.A253T 0.000 NULL pfam_DMT - no_errors SLC35E2 HGNC ENSG00000215790 36 0 0 17 10 37.037 ADCY10 0 genome.wustl.edu 37 1 167823708 167823708 + Missense_Mutation SNP A A C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 167823708 167823708 A C SNP ADCY10 ENST00000367851 human ensembl 74_37 -1 known missense c.2191 p.C731G 1.000 superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ENSG00000143199 122 0 0 71 13 15.4762 ADCY10 0 genome.wustl.edu 37 1 167849742 167849742 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 167849742 167849742 C A SNP ADCY10 ENST00000367851 human ensembl 74_37 -1 known missense c.1126 p.V376F 0.912 pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ENSG00000143199 77 0 0 59 13 18.0556 XCL2 0 genome.wustl.edu 37 1 168511329 168511329 + Silent SNP G G C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 168511329 168511329 G C SNP XCL2 ENST00000367819 human ensembl 74_37 -1 known silent c.78 p.V26 0.340 superfamily_Chemokine_IL8-like_dom,prints_Chemokine_XCL1 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_XCL1 - no_errors XCL2 HGNC ENSG00000143185 70 0 0 73 6 7.59494 PRRC2C 0 genome.wustl.edu 37 1 171510625 171510625 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 171510625 171510625 G A SNP PRRC2C ENST00000392078 human ensembl 74_37 +1 known silent c.4020 p.E1340 1.000 NULL pfam_BAT2_N - no_errors PRRC2C HGNC ENSG00000117523 23 0 0 37 4 9.7561 DNM3 0 genome.wustl.edu 37 1 171958183 171958183 + Nonsense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 171958183 171958183 C T SNP DNM3 ENST00000358155 human ensembl 74_37 +1 known nonsense c.484 p.Q162* 1.000 pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase 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 DNM3 HGNC ENSG00000197959 34 0 0 19 2 9.52381 ATP13A2 0 genome.wustl.edu 37 1 17318615 17318615 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 17318615 17318615 T C SNP ATP13A2 ENST00000326735 human ensembl 74_37 -1 known missense c.2015 p.D672G 0.883 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_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 123 0 0 83 6 6.74157 TNN 0 genome.wustl.edu 37 1 175092640 175092640 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 175092640 175092640 T C SNP TNN ENST00000239462 human ensembl 74_37 +1 known missense c.2755 p.Y919H 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 80 0 0 111 18 13.9535 BRINP2 0 genome.wustl.edu 37 1 177245416 177245416 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 177245416 177245416 T C SNP BRINP2 ENST00000361539 human ensembl 74_37 +1 known silent c.858 p.G286 0.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP2 HGNC ENSG00000198797 47 0 0 47 14 22.9508 STX6 0 genome.wustl.edu 37 1 180953905 180953905 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 180953905 180953905 A G SNP STX6 ENST00000258301 human ensembl 74_37 -1 known missense c.599 p.M200T 1.000 pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom pfam_Syntaxin-6_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX6 HGNC ENSG00000135823 43 0 0 15 18 54.5455 CACNA1E 0 genome.wustl.edu 37 1 181693655 181693655 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 181693655 181693655 C T SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known silent c.2124 p.N708 0.998 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 29 0 0 18 6 25 CACNA1E 0 genome.wustl.edu 37 1 181695292 181695292 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 181695292 181695292 C T SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.2234 p.S745L 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 27 0 0 21 15 41.6667 NMNAT2 0 genome.wustl.edu 37 1 183221759 183221759 + RNA SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 183221759 183221759 C A SNP NMNAT2 ENST00000464047 human ensembl 74_37 -1 known rna NULL NULL 0.022 - - - no_errors NMNAT2 HGNC ENSG00000157064 171 0 0 101 48 32.2148 SWT1 0 genome.wustl.edu 37 1 185200810 185200810 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 185200810 185200810 C T SNP SWT1 ENST00000367500 human ensembl 74_37 +1 known missense c.2411 p.A804V 1.000 NULL smart_PIN_dom - no_errors SWT1 HGNC ENSG00000116668 104 0 0 47 11 18.9655 PRG4 0 genome.wustl.edu 37 1 186276262 186276262 + Missense_Mutation SNP A A C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 186276262 186276262 A C SNP PRG4 ENST00000445192 human ensembl 74_37 +1 known missense c.1411 p.T471P 0.000 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom - no_errors PRG4 HGNC ENSG00000116690 73 0 0 222 24 9.7561 PRG4 0 genome.wustl.edu 37 1 186276739 186276739 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 186276739 186276739 G A SNP PRG4 ENST00000445192 human ensembl 74_37 +1 known missense c.1888 p.E630K 0.000 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom - no_errors PRG4 HGNC ENSG00000116690 27 0 0 80 11 12.0879 PRG4 0 genome.wustl.edu 37 1 186276818 186276818 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 186276818 186276818 C T SNP PRG4 ENST00000445192 human ensembl 74_37 +1 known missense c.1967 p.P656L 0.000 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom - no_errors PRG4 HGNC ENSG00000116690 48 0 0 108 11 9.2437 TPR 0 genome.wustl.edu 37 1 186301402 186301402 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 186301402 186301402 T C SNP TPR ENST00000367478 human ensembl 74_37 -1 known silent c.5529 p.S1843 0.993 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 91 0 0 70 19 21.3483 TAS1R2 0 genome.wustl.edu 37 1 19166440 19166440 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 19166440 19166440 G A SNP TAS1R2 ENST00000375371 human ensembl 74_37 -1 novel missense c.2173 p.R725C 0.100 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R2 HGNC ENSG00000179002 66 0 0 40 23 36.5079 TROVE2 0 genome.wustl.edu 37 1 193051754 193051754 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 193051754 193051754 T C SNP TROVE2 ENST00000367441 human ensembl 74_37 +1 known silent c.1380 p.P460 1.000 NULL pfam_TROVE,pfscan_TROVE - no_errors TROVE2 HGNC ENSG00000116747 58 0 0 38 13 25.4902 EMC1 0 genome.wustl.edu 37 1 19549207 19549207 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 19549207 19549207 A G SNP EMC1 ENST00000477853 human ensembl 74_37 -1 known missense c.2498 p.V833A 1.000 pfam_DUF1620 pfam_DUF1620,superfamily_Quinonprotein_ADH-like_supfam - no_errors EMC1 HGNC ENSG00000127463 93 0 0 56 18 24.3243 AKR7L 0 genome.wustl.edu 37 1 19593919 19593919 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 19593919 19593919 T C SNP AKR7L ENST00000420396 human ensembl 74_37 -1 known missense c.337 p.S113G 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom - no_errors AKR7L HGNC ENSG00000211454 95 0 0 50 11 18.0328 AKR7A3 0 genome.wustl.edu 37 1 19612726 19612726 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 19612726 19612726 T C SNP AKR7A3 ENST00000361640 human ensembl 74_37 -1 known missense c.355 p.T119A 0.990 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom - no_errors AKR7A3 HGNC ENSG00000162482 113 0 0 99 8 7.47664 CFH 0 genome.wustl.edu 37 1 196709878 196709878 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 196709878 196709878 C T SNP CFH ENST00000367429 human ensembl 74_37 +1 known missense c.2912 p.A971V 0.008 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 125 1 0.793651 67 17 20.2381 ASPM 0 genome.wustl.edu 37 1 197073298 197073298 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 197073298 197073298 G A SNP ASPM ENST00000367409 human ensembl 74_37 -1 known missense c.5083 p.R1695C 0.043 superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 56 0 0 45 17 27.4194 ELF3 0 genome.wustl.edu 37 1 201984387 201984387 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 201984387 201984387 T C SNP ELF3 ENST00000359651 human ensembl 74_37 +1 known missense c.1052 p.V351A 1.000 pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELF3 HGNC ENSG00000163435 105 0 0 66 37 35.9223 PLA2G2A 0 genome.wustl.edu 37 1 20304571 20304571 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 20304571 20304571 G A SNP PLA2G2A ENST00000375111 human ensembl 74_37 -1 known missense c.229 p.R77C 0.000 pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 - no_errors PLA2G2A HGNC ENSG00000188257 89 0 0 54 31 36.4706 SNRPE 0 genome.wustl.edu 37 1 203830839 203830839 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 203830839 203830839 A G SNP SNRPE ENST00000414487 human ensembl 74_37 +1 known missense c.52 p.I18V 1.000 superfamily_LSM_dom pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors SNRPE HGNC ENSG00000182004 67 0 0 61 4 6.15385 SOX13 0 genome.wustl.edu 37 1 204092326 204092326 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 204092326 204092326 C T SNP SOX13 ENST00000367204 human ensembl 74_37 +1 known silent c.1221 p.C407 0.108 superfamily_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX13 HGNC ENSG00000143842 197 0 0 128 63 32.9843 UBXN10 0 genome.wustl.edu 37 1 20517794 20517794 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 20517794 20517794 C A SNP UBXN10 ENST00000375099 human ensembl 74_37 +1 known missense c.740 p.P247H 1.000 pfam_UBX,smart_UBX,pfscan_UBX pfam_UBX,smart_UBX,pfscan_UBX - no_errors UBXN10 HGNC ENSG00000162543 105 0 0 88 25 22.1239 TMCC2 0 genome.wustl.edu 37 1 205241235 205241235 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 205241235 205241235 G A SNP TMCC2 ENST00000358024 human ensembl 74_37 +1 known missense c.2113 p.V705M 1.000 NULL pfam_Predicted_TM_coiled-coil_2,superfamily_t-SNARE - no_errors TMCC2 HGNC ENSG00000133069 90 0 0 64 55 46.2185 C1orf74 0 genome.wustl.edu 37 1 209956976 209956976 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 209956976 209956976 A G SNP C1orf74 ENST00000294811 human ensembl 74_37 -1 known silent c.4 p.L2 0.003 NULL NULL - no_errors C1orf74 HGNC ENSG00000162757 99 0 0 110 9 7.56303 KCNH1 0 genome.wustl.edu 37 1 210971048 210971048 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 210971048 210971048 G A SNP KCNH1 ENST00000271751 human ensembl 74_37 -1 known missense c.1717 p.R573C 1.000 superfamily_cNMP-bd-like pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH1 HGNC ENSG00000143473 69 0 0 65 14 17.7215 C1orf86 0 genome.wustl.edu 37 1 2125206 2125206 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 2125206 2125206 G A SNP C1orf86 ENST00000378543 human ensembl 74_37 -1 putative missense c.206 p.P69L 0.000 NULL NULL - no_errors C1orf86 HGNC ENSG00000162585 44 0 0 57 6 9.52381 USH2A 0 genome.wustl.edu 37 1 216251649 216251649 + Missense_Mutation SNP G G C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 216251649 216251649 G C SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.5354 p.T1785R 0.050 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Laminin_G,pfscan_Laminin_G 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 407 1 0.245098 182 180 49.7238 HSPG2 0 genome.wustl.edu 37 1 22178356 22178356 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 22178356 22178356 G A SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.6934 p.R2312W 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_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 29 0 0 30 8 21.0526 MIA3 0 genome.wustl.edu 37 1 222803243 222803243 + Missense_Mutation SNP C C G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 222803243 222803243 C G SNP MIA3 ENST00000344441 human ensembl 74_37 +1 known missense c.2681 p.S894C 0.000 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA3 HGNC ENSG00000154305 54 0 0 44 15 25.4237 CELA3B 0 genome.wustl.edu 37 1 22304927 22304927 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 22304927 22304927 C T SNP CELA3B ENST00000337107 human ensembl 74_37 +1 known missense c.109 p.P37S 0.936 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 CELA3B HGNC ENSG00000219073 103 0 0 64 4 5.88235 TLR5 0 genome.wustl.edu 37 1 223284008 223284008 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 223284008 223284008 A G SNP TLR5 ENST00000342210 human ensembl 74_37 -1 known missense c.2366 p.M789T 1.000 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR5 HGNC ENSG00000187554 73 0 0 65 19 22.619 WDR26 0 genome.wustl.edu 37 1 224581610 224581610 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 224581610 224581610 G A SNP WDR26 ENST00000414423 human ensembl 74_37 -1 known missense c.1880 p.S627F 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR26 HGNC ENSG00000162923 89 0 0 45 24 34.7826 DNAH14 0 genome.wustl.edu 37 1 225155170 225155170 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 225155170 225155170 T C SNP DNAH14 ENST00000430092 human ensembl 74_37 +1 known missense c.536 p.L179P 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase - no_errors DNAH14 HGNC ENSG00000185842 173 0 0 104 7 6.30631 LBR 0 genome.wustl.edu 37 1 225592396 225592396 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 225592396 225592396 A G SNP LBR ENST00000272163 human ensembl 74_37 -1 known missense c.1496 p.V499A 1.000 pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_DUF1295 pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_Lamin-B_rcpt_of_tudor,pfam_DUF1295,smart_Tudor - no_errors LBR HGNC ENSG00000143815 42 0 0 16 21 56.7568 ITPKB 0 genome.wustl.edu 37 1 226923439 226923439 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 226923439 226923439 A G SNP ITPKB ENST00000272117 human ensembl 74_37 -1 known missense c.1721 p.M574T 0.850 NULL pfam_IPK - no_errors ITPKB HGNC ENSG00000143772 43 0 0 39 21 35 OBSCN 0 genome.wustl.edu 37 1 228407137 228407137 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 228407137 228407137 G A SNP OBSCN ENST00000570156 human ensembl 74_37 +1 putative silent c.2766 p.T922 0.919 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_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 35 0 0 76 17 18.2796 OBSCN 0 genome.wustl.edu 37 1 228547510 228547510 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 228547510 228547510 C T SNP OBSCN ENST00000366709 human ensembl 74_37 +1 known missense c.10274 p.T3425M 0.997 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_DH-domain,pfam_Fibronectin_type3,pfam_IQ_motif_EF-hand-BS,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,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 17 0 0 10 7 41.1765 SIPA1L2 0 genome.wustl.edu 37 1 232649831 232649831 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 232649831 232649831 C T SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known missense c.1255 p.E419K 1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 272 0 0 188 70 27.1318 KIAA1804 0 genome.wustl.edu 37 1 233514953 233514953 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 233514953 233514953 C T SNP KIAA1804 ENST00000366624 human ensembl 74_37 +1 known missense c.2201 p.A734V 0.952 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MLK4 Uniprot_gn ENSG00000143674 79 0 0 131 9 6.42857 LYST 0 genome.wustl.edu 37 1 235971943 235971943 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 235971943 235971943 A G SNP LYST ENST00000389793 human ensembl 74_37 -1 known silent c.2175 p.V725 0.540 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 32 0 0 21 23 52.2727 HEATR1 0 genome.wustl.edu 37 1 236749213 236749213 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 236749213 236749213 C T SNP HEATR1 ENST00000366582 human ensembl 74_37 -1 known silent c.1956 p.K652 0.342 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 51 0 0 32 4 11.1111 FMN2 0 genome.wustl.edu 37 1 240256760 240256760 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 240256760 240256760 C A SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.1351 p.L451M 0.006 NULL pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 97 0 0 85 7 7.6087 FMN2 0 genome.wustl.edu 37 1 240286560 240286560 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 240286560 240286560 T C SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.1697 p.I566T 0.995 pfscan_DEP_dom pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 90 0 0 88 9 9.27835 FMN2 0 genome.wustl.edu 37 1 240371405 240371405 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 240371405 240371405 C A SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.3293 p.P1098H 0.497 pfam_Formin_homology_1,smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 39 0 0 27 2 6.89655 EXO1 0 genome.wustl.edu 37 1 242042481 242042481 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 242042481 242042481 T C SNP EXO1 ENST00000348581 human ensembl 74_37 +1 known missense c.1945 p.S649P 0.002 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 77 0 0 63 4 5.97015 NLRP3 0 genome.wustl.edu 37 1 247587785 247587785 + Missense_Mutation SNP T T G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 247587785 247587785 T G SNP NLRP3 ENST00000336119 human ensembl 74_37 +1 known missense c.1040 p.L347R 0.999 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase 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 NLRP3 HGNC ENSG00000162711 123 0 0 104 19 15.4472 NIPAL3 0 genome.wustl.edu 37 1 24782721 24782721 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 24782721 24782721 T C SNP NIPAL3 ENST00000374399 human ensembl 74_37 +1 known missense c.731 p.V244A 1.000 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA - no_errors NIPAL3 HGNC ENSG00000001461 548 0 0 354 90 20.2703 OR14C36 0 genome.wustl.edu 37 1 248512652 248512652 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 248512652 248512652 C T SNP OR14C36 ENST00000317861 human ensembl 74_37 +1 known silent c.576 p.S192 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR14C36 HGNC ENSG00000177174 84 0 0 42 38 47.5 OR2T4 0 genome.wustl.edu 37 1 248525674 248525674 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 248525674 248525674 G T SNP OR2T4 ENST00000366475 human ensembl 74_37 +1 known missense c.792 p.E264D 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T4 HGNC ENSG00000196944 128 0 0 115 11 8.73016 SRRM1 0 genome.wustl.edu 37 1 24979063 24979063 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 24979063 24979063 G A SNP SRRM1 ENST00000447431 human ensembl 74_37 +1 known silent c.864 p.T288 0.058 NULL pfam_PWI_dom,superfamily_PWI_dom,smart_PWI_dom - no_errors SRRM1 HGNC ENSG00000133226 39 0 0 26 7 21.2121 GPATCH3 0 genome.wustl.edu 37 1 27223980 27223980 + Silent SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 27223980 27223980 G T SNP GPATCH3 ENST00000361720 human ensembl 74_37 -1 known silent c.688 p.R230 1.000 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH3 HGNC ENSG00000198746 160 0 0 153 13 7.83133 WDTC1 0 genome.wustl.edu 37 1 27631505 27631505 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 27631505 27631505 A G SNP WDTC1 ENST00000319394 human ensembl 74_37 +1 known missense c.1657 p.I553V 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_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 46 0 0 33 7 17.5 SYTL1 0 genome.wustl.edu 37 1 27677481 27677481 + RNA SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 27677481 27677481 G A SNP SYTL1 ENST00000490170 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors SYTL1 HGNC ENSG00000142765 24 0 0 12 19 61.2903 AHDC1 0 genome.wustl.edu 37 1 27878317 27878317 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 27878317 27878317 C T SNP AHDC1 ENST00000247087 human ensembl 74_37 -1 known missense c.310 p.G104S 0.757 NULL NULL - no_errors AHDC1 HGNC ENSG00000126705 180 0 0 144 75 34.2466 YTHDF2 0 genome.wustl.edu 37 1 29070128 29070128 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 29070128 29070128 T C SNP YTHDF2 ENST00000373812 human ensembl 74_37 +1 known missense c.1346 p.M449T 1.000 pfscan_YTH_domain pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDF2 HGNC ENSG00000198492 62 0 0 42 31 42.4658 PEF1 0 genome.wustl.edu 37 1 32096158 32096158 + RNA SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 32096158 32096158 A G SNP PEF1 ENST00000461006 human ensembl 74_37 -1 known rna NULL NULL 0.095 - - - no_errors PEF1 HGNC ENSG00000162517 13 0 0 13 3 18.75 SPOCD1 0 genome.wustl.edu 37 1 32256815 32256815 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 32256815 32256815 G A SNP SPOCD1 ENST00000360482 human ensembl 74_37 -1 known silent c.3040 p.L1014 1.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,superfamily_TFIIS_cen_dom,smart_TFS2M - no_errors SPOCD1 HGNC ENSG00000134668 32 0 0 10 9 47.3684 SPOCD1 0 genome.wustl.edu 37 1 32259828 32259828 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 32259828 32259828 C A SNP SPOCD1 ENST00000360482 human ensembl 74_37 -1 known missense c.2280 p.Q760H 0.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,superfamily_TFIIS_cen_dom,smart_TFS2M - no_errors SPOCD1 HGNC ENSG00000134668 45 0 0 33 21 38.8889 YARS 0 genome.wustl.edu 37 1 33245788 33245788 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 33245788 33245788 G A SNP YARS ENST00000373477 human ensembl 74_37 -1 known missense c.1232 p.P411L 1.000 pfam_tRNA-bd_dom,superfamily_NA-bd_OB-fold,pfscan_tRNA-bd_dom pfam_aa-tRNA-synth_Ic,pfam_tRNA-bd_dom,superfamily_NA-bd_OB-fold,prints_Tyr-tRNA-ligase,pfscan_tRNA-bd_dom,tigrfam_Tyr-tRNA-ligase - no_errors YARS HGNC ENSG00000134684 248 0 0 118 81 40.7035 ADC 0 genome.wustl.edu 37 1 33548004 33548004 + RNA SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 33548004 33548004 G A SNP ADC ENST00000475935 human ensembl 74_37 +1 known rna NULL NULL 0.992 - - - no_errors ADC HGNC ENSG00000142920 14 0 0 13 8 38.0952 CSMD2 0 genome.wustl.edu 37 1 34038130 34038130 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 34038130 34038130 G A SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.7738 p.R2580C 0.020 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 156 0 0 120 12 9.09091 DLGAP3 0 genome.wustl.edu 37 1 35370000 35370000 + Nonsense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 35370000 35370000 G A SNP DLGAP3 ENST00000235180 human ensembl 74_37 -1 known nonsense c.985 p.R329* 1.000 NULL pfam_GKAP - no_errors DLGAP3 HGNC ENSG00000116544 98 0 0 42 33 44 ZMYM6 0 genome.wustl.edu 37 1 35457859 35457859 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 35457859 35457859 T C SNP ZMYM6 ENST00000357182 human ensembl 74_37 -1 known missense c.2122 p.T708A 0.981 NULL pfam_Znf_MYM,superfamily_RNaseH-like_dom,smart_TRASH_dom - no_errors ZMYM6 HGNC ENSG00000163867 96 0 0 54 32 37.2093 HEYL 0 genome.wustl.edu 37 1 40092677 40092677 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 40092677 40092677 C T SNP HEYL ENST00000372852 human ensembl 74_37 -1 known silent c.489 p.S163 0.000 NULL pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom - no_errors HEYL HGNC ENSG00000163909 72 0 0 58 4 6.45161 NT5C1A 0 genome.wustl.edu 37 1 40129045 40129045 + Silent SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 40129045 40129045 G T SNP NT5C1A ENST00000235628 human ensembl 74_37 -1 known silent c.495 p.A165 1.000 pfam_5-nucleotidase pfam_5-nucleotidase - no_errors NT5C1A HGNC ENSG00000116981 62 0 0 42 17 28.8136 PPIE 0 genome.wustl.edu 37 1 40205879 40205879 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 40205879 40205879 C T SNP PPIE ENST00000324379 human ensembl 74_37 +1 known missense c.74 p.A25V 1.000 pfam_RRM_dom,smart_RRM_dom,pirsf_Cyclophilin-type_PPIase_E,pfscan_RRM_dom pfam_Cyclophilin-like_PPIase_dom,pfam_RRM_dom,superfamily_Cyclophilin-like_PPIase_dom,smart_RRM_dom,pirsf_Cyclophilin-type_PPIase_E,pfscan_RRM_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIE HGNC ENSG00000084072 80 0 0 44 7 13.7255 TIE1 0 genome.wustl.edu 37 1 43773243 43773243 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 43773243 43773243 G T SNP TIE1 ENST00000372476 human ensembl 74_37 +1 known missense c.913 p.A305S 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 92 0 0 49 27 35.5263 TIE1 0 genome.wustl.edu 37 1 43778821 43778821 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 43778821 43778821 G A SNP TIE1 ENST00000372476 human ensembl 74_37 +1 known missense c.1943 p.R648Q 0.195 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 81 0 0 34 31 47.6923 DMAP1 0 genome.wustl.edu 37 1 44684864 44684864 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 44684864 44684864 G A SNP DMAP1 ENST00000315913 human ensembl 74_37 +1 known missense c.857 p.R286H 1.000 pfam_DMAP1 pfam_DMAP1,superfamily_Homeodomain-like - no_errors DMAP1 HGNC ENSG00000178028 65 0 0 46 38 45.2381 RPS8 0 genome.wustl.edu 37 1 45241663 45241663 + RNA SNP G G C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 45241663 45241663 G C SNP RPS8 ENST00000485390 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors RPS8 HGNC ENSG00000142937 39 0 0 29 18 38.2979 EIF2B3 0 genome.wustl.edu 37 1 45345566 45345566 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 45345566 45345566 C T SNP EIF2B3 ENST00000360403 human ensembl 74_37 -1 known missense c.899 p.C300Y 1.000 NULL pfam_NTP_transferase - no_errors EIF2B3 HGNC ENSG00000070785 77 0 0 36 21 36.8421 GPBP1L1 0 genome.wustl.edu 37 1 46121139 46121139 + RNA SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 46121139 46121139 C A SNP GPBP1L1 ENST00000496278 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GPBP1L1 HGNC ENSG00000159592 12 0 0 10 8 44.4444 LRRC41 0 genome.wustl.edu 37 1 46745947 46745947 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 46745947 46745947 A G SNP LRRC41 ENST00000343304 human ensembl 74_37 -1 known missense c.1937 p.L646P 0.993 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC41 HGNC ENSG00000132128 104 0 0 73 29 28.4314 MKNK1 0 genome.wustl.edu 37 1 47030770 47030770 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 47030770 47030770 A G SNP MKNK1 ENST00000371946 human ensembl 74_37 -1 known silent c.711 p.S237 0.999 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 MKNK1 HGNC ENSG00000079277 260 0 0 177 15 7.8125 CYP4B1 0 genome.wustl.edu 37 1 47284440 47284440 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 47284440 47284440 G A SNP CYP4B1 ENST00000371923 human ensembl 74_37 +1 known missense c.1493 p.G498D 1.000 pfam_Cyt_P450,superfamily_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 CYP4B1 HGNC ENSG00000142973 141 1 0.704225 86 21 19.6262 SLC5A9 0 genome.wustl.edu 37 1 48708212 48708212 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 48708212 48708212 C T SNP SLC5A9 ENST00000236495 human ensembl 74_37 +1 known silent c.1836 p.S612 0.000 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A9 HGNC ENSG00000117834 69 0 0 36 30 45.4545 ZCCHC11 0 genome.wustl.edu 37 1 52956410 52956410 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 52956410 52956410 C T SNP ZCCHC11 ENST00000257177 human ensembl 74_37 -1 known missense c.1382 p.R461Q 0.983 NULL pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC11 HGNC ENSG00000134744 42 0 0 10 7 41.1765 ZYG11B 0 genome.wustl.edu 37 1 53279364 53279364 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 53279364 53279364 A G SNP ZYG11B ENST00000294353 human ensembl 74_37 +1 known missense c.1852 p.T618A 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors ZYG11B HGNC ENSG00000162378 146 0 0 86 5 5.49451 SCP2 0 genome.wustl.edu 37 1 53446143 53446143 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 53446143 53446143 G A SNP SCP2 ENST00000371514 human ensembl 74_37 +1 known missense c.901 p.V301I 1.000 pfam_Thiolase_C,superfamily_Thiolase-like pfam_SCP2_sterol-bd_dom,pfam_Thiolase_C,pfam_Thiolase_N,superfamily_Thiolase-like,superfamily_SCP2_sterol-bd_dom - no_errors SCP2 HGNC ENSG00000116171 121 0 0 69 4 5.47945 SSBP3 0 genome.wustl.edu 37 1 54870568 54870568 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 54870568 54870568 A G SNP SSBP3 ENST00000371320 human ensembl 74_37 -1 known missense c.92 p.V31A 0.997 smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd - no_errors SSBP3 HGNC ENSG00000157216 42 0 0 41 5 10.8696 C1orf177 0 genome.wustl.edu 37 1 55273679 55273679 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 55273679 55273679 A G SNP C1orf177 ENST00000371273 human ensembl 74_37 +1 known missense c.475 p.T159A 0.006 NULL NULL - no_errors C1orf177 HGNC ENSG00000162398 102 0 0 57 39 40.625 NFIA 0 genome.wustl.edu 37 1 61848996 61848996 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 61848996 61848996 C T SNP NFIA ENST00000371189 human ensembl 74_37 +1 known missense c.1169 p.A390V 0.999 pfam_CTF/NFI pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIA HGNC ENSG00000162599 288 0 0 162 45 21.7391 ICMT 0 genome.wustl.edu 37 1 6294985 6294985 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 6294985 6294985 A G SNP ICMT ENST00000343813 human ensembl 74_37 -1 known missense c.245 p.L82P 1.000 NULL pfam_ICMT_MeTrfase - no_errors ICMT HGNC ENSG00000116237 115 0 0 107 19 15.0794 ROR1 0 genome.wustl.edu 37 1 64608132 64608132 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 64608132 64608132 G A SNP ROR1 ENST00000371079 human ensembl 74_37 +1 known missense c.973 p.V325I 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 ROR1 HGNC ENSG00000185483 90 0 0 40 34 45.9459 LEPR 0 genome.wustl.edu 37 1 66081741 66081741 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 66081741 66081741 C T SNP LEPR ENST00000349533 human ensembl 74_37 +1 known silent c.2046 p.N682 0.069 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LEPR HGNC ENSG00000116678 112 0 0 41 26 38.806 DNAJC11 0 genome.wustl.edu 37 1 6704704 6704704 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 6704704 6704704 G A SNP DNAJC11 ENST00000377577 human ensembl 74_37 -1 known silent c.1011 p.Y337 0.710 NULL pfam_DnaJ-like_C11_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC11 HGNC ENSG00000007923 90 0 0 63 25 28.4091 ZZZ3 0 genome.wustl.edu 37 1 78098156 78098156 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 78098156 78098156 A G SNP ZZZ3 ENST00000370801 human ensembl 74_37 -1 known missense c.884 p.L295P 1.000 NULL pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors ZZZ3 HGNC ENSG00000036549 96 0 0 75 4 5.06329 SYDE2 0 genome.wustl.edu 37 1 85666014 85666014 + Silent SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 85666014 85666014 G T SNP SYDE2 ENST00000341460 human ensembl 74_37 -1 known silent c.666 p.A222 0.001 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE2 HGNC ENSG00000097096 136 0 0 107 10 8.54701 CLCA2 0 genome.wustl.edu 37 1 86900375 86900375 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 86900375 86900375 G T SNP CLCA2 ENST00000370565 human ensembl 74_37 +1 known missense c.919 p.A307S 0.931 tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA2 HGNC ENSG00000137975 126 0 0 86 5 5.49451 CLCA4 0 genome.wustl.edu 37 1 87012848 87012848 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 87012848 87012848 C T SNP CLCA4 ENST00000370563 human ensembl 74_37 +1 known silent c.46 p.L16 0.922 pfam_Cl_channel_Ca,tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA4 HGNC ENSG00000016602 125 0 0 55 17 23.6111 GTF2B 0 genome.wustl.edu 37 1 89325936 89325936 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 89325936 89325936 T C SNP GTF2B ENST00000370500 human ensembl 74_37 -1 known missense c.292 p.N98D 1.000 pfam_Cyclin_N pfam_TFIIB_cyclin,pfam_Znf_TFIIB,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pfscan_Znf_TFIIB,prints_TFIIB - no_errors GTF2B HGNC ENSG00000137947 104 0 0 54 15 21.7391 GBP4 0 genome.wustl.edu 37 1 89656966 89656966 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 89656966 89656966 C A SNP GBP4 ENST00000355754 human ensembl 74_37 -1 known missense c.894 p.E298D 0.001 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP4 HGNC ENSG00000162654 126 0 0 74 6 7.5 LRRC8B 0 genome.wustl.edu 37 1 90049465 90049465 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 90049465 90049465 A G SNP LRRC8B ENST00000330947 human ensembl 74_37 +1 known missense c.1256 p.Q419R 1.000 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8B HGNC ENSG00000197147 104 0 0 63 6 8.69565 SLC2A7 0 genome.wustl.edu 37 1 9073610 9073610 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 9073610 9073610 C T SNP SLC2A7 ENST00000400906 human ensembl 74_37 -1 known missense c.988 p.V330I 0.821 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,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A7 HGNC ENSG00000197241 70 0 0 30 17 36.1702 SLC2A7 0 genome.wustl.edu 37 1 9073627 9073627 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 9073627 9073627 G A SNP SLC2A7 ENST00000400906 human ensembl 74_37 -1 known missense c.971 p.T324M 0.870 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,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A7 HGNC ENSG00000197241 76 0 0 34 17 33.3333 HFM1 0 genome.wustl.edu 37 1 91788662 91788662 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 91788662 91788662 C T SNP HFM1 ENST00000370425 human ensembl 74_37 -1 known missense c.2522 p.R841Q 0.992 pfam_Sec63-dom,smart_Sec63-dom pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC ENSG00000162669 60 0 0 27 18 40 CNN3 0 genome.wustl.edu 37 1 95363495 95363495 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 95363495 95363495 G A SNP CNN3 ENST00000370206 human ensembl 74_37 -1 known missense c.793 p.R265W 1.000 pfam_Calponin_repeat,pfscan_Calponin_repeat,prints_Calponin pfam_Calponin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Calponin - no_errors CNN3 HGNC ENSG00000117519 186 0 0 102 15 12.8205 TMEM201 0 genome.wustl.edu 37 1 9661455 9661455 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 9661455 9661455 T C SNP TMEM201 ENST00000340381 human ensembl 74_37 +1 known missense c.899 p.V300A 0.254 pfam_DUF2448 pfam_DUF2448,pfam_Ima1_N - no_errors TMEM201 HGNC ENSG00000188807 101 0 0 95 5 5 NKX2-3 0 genome.wustl.edu 37 10 101294988 101294988 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 101294988 101294988 A G SNP NKX2-3 ENST00000344586 human ensembl 74_37 +1 known missense c.605 p.K202R 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-3 HGNC ENSG00000119919 28 0 0 43 4 8.51064 TLX1 0 genome.wustl.edu 37 10 102891414 102891414 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 102891414 102891414 G A SNP TLX1 ENST00000370196 human ensembl 74_37 +1 known missense c.116 p.R39H 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors TLX1 HGNC ENSG00000107807 26 0 0 13 9 40.9091 TMEM180 0 genome.wustl.edu 37 10 104230502 104230502 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 104230502 104230502 T C SNP TMEM180 ENST00000238936 human ensembl 74_37 +1 known missense c.332 p.L111P 1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors TMEM180 HGNC ENSG00000138111 196 0 0 100 84 45.6522 CYP17A1 0 genome.wustl.edu 37 10 104595067 104595067 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 104595067 104595067 A G SNP CYP17A1 ENST00000369887 human ensembl 74_37 -1 known missense c.380 p.L127P 1.000 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 CYP17A1 HGNC ENSG00000148795 121 0 0 98 8 7.54717 ADD3 0 genome.wustl.edu 37 10 111877150 111877150 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 111877150 111877150 A G SNP ADD3 ENST00000356080 human ensembl 74_37 +1 known silent c.537 p.L179 0.973 pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD3 HGNC ENSG00000148700 48 0 0 30 7 18.9189 CELF2 0 genome.wustl.edu 37 10 11363338 11363338 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 11363338 11363338 G T SNP CELF2 ENST00000450189 human ensembl 74_37 +1 known missense c.1283 p.S428I 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors CELF2 HGNC ENSG00000048740 47 0 0 37 8 17.7778 TCF7L2 0 genome.wustl.edu 37 10 114724358 114724358 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 114724358 114724358 C T SNP TCF7L2 ENST00000355995 human ensembl 74_37 +1 known missense c.425 p.T142M 1.000 pfam_CTNNB1-bd_N 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 77 0 0 30 19 38.7755 TCF7L2 0 genome.wustl.edu 37 10 114900993 114900993 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 114900993 114900993 G A SNP TCF7L2 ENST00000355995 human ensembl 74_37 +1 known silent c.603 p.T201 1.000 pfam_CTNNB1-bd_N 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 135 0 0 108 20 15.625 NRAP 0 genome.wustl.edu 37 10 115411638 115411638 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 115411638 115411638 C T SNP NRAP ENST00000369358 human ensembl 74_37 -1 known missense c.599 p.R200H 0.968 NULL pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin - no_errors NRAP HGNC ENSG00000197893 76 0 0 53 8 13.1148 NRAP 0 genome.wustl.edu 37 10 115413830 115413830 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 115413830 115413830 G A SNP NRAP ENST00000369358 human ensembl 74_37 -1 known missense c.415 p.P139S 0.992 NULL pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin - no_errors NRAP HGNC ENSG00000197893 325 0 0 201 11 5.18868 VWA2 0 genome.wustl.edu 37 10 116049203 116049203 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 116049203 116049203 G A SNP VWA2 ENST00000392982 human ensembl 74_37 +1 known missense c.2077 p.D693N 0.975 smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_EG-like_dom,pfam_EGF_extracell,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_VWF_A - no_errors VWA2 HGNC ENSG00000165816 88 0 0 42 27 39.1304 WDR37 0 genome.wustl.edu 37 10 1170951 1170951 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 1170951 1170951 G A SNP WDR37 ENST00000263150 human ensembl 74_37 +1 known missense c.1340 p.R447Q 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,prints_G-protein_beta_WD-40_rep - no_errors WDR37 HGNC ENSG00000047056 45 0 0 22 20 47.619 UPF2 0 genome.wustl.edu 37 10 12071235 12071235 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 12071235 12071235 A G SNP UPF2 ENST00000356352 human ensembl 74_37 -1 known silent c.654 p.D218 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors UPF2 HGNC ENSG00000151461 38 0 0 18 16 47.0588 FAM45A 0 genome.wustl.edu 37 10 120883018 120883018 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 120883018 120883018 A G SNP FAM45A ENST00000361432 human ensembl 74_37 +1 known missense c.631 p.T211A 1.000 NULL pfam_ABL9/DENND6_dom - no_errors FAM45A HGNC ENSG00000119979 52 0 0 36 8 18.1818 DHTKD1 0 genome.wustl.edu 37 10 12136269 12136269 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 12136269 12136269 A G SNP DHTKD1 ENST00000263035 human ensembl 74_37 +1 known missense c.1357 p.R453G 1.000 pfam_DH_E1,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 53 0 0 36 3 7.69231 FGFR2 0 genome.wustl.edu 37 10 123279676 123279676 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 123279676 123279676 C T SNP FGFR2 ENST00000457416 human ensembl 74_37 -1 known silent c.756 p.S252 0.000 pirsf_FGF_rcpt_fam pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR2 HGNC ENSG00000066468 35 0 0 16 17 51.5152 PLEKHA1 0 genome.wustl.edu 37 10 124189200 124189200 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 124189200 124189200 G A SNP PLEKHA1 ENST00000368990 human ensembl 74_37 +1 known missense c.961 p.A321T 0.996 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA1 HGNC ENSG00000107679 74 0 0 33 24 42.1053 HTRA1 0 genome.wustl.edu 37 10 124273782 124273782 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 124273782 124273782 C T SNP HTRA1 ENST00000368984 human ensembl 74_37 +1 known silent c.1350 p.D450 0.977 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Peptidase_S1,pfam_PDZ,pfam_Kazal_dom,pfam_IGFBP-like,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_IGFBP-like,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA1 HGNC ENSG00000166033 202 0 0 143 45 23.9362 DMBT1 0 genome.wustl.edu 37 10 124345642 124345642 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 124345642 124345642 T C SNP DMBT1 ENST00000338354 human ensembl 74_37 +1 known missense c.1526 p.V509A 0.980 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR - no_errors DMBT1 HGNC ENSG00000187908 817 0 0 530 177 25.0354 ZRANB1 0 genome.wustl.edu 37 10 126673497 126673497 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 126673497 126673497 G A SNP ZRANB1 ENST00000359653 human ensembl 74_37 +1 known missense c.2063 p.R688Q 1.000 NULL pfam_OTU,pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_OTU,pfscan_Znf_RanBP2 - no_errors ZRANB1 HGNC ENSG00000019995 38 0 0 20 16 44.4444 CAMK1D 0 genome.wustl.edu 37 10 12870783 12870783 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 12870783 12870783 C T SNP CAMK1D ENST00000378847 human ensembl 74_37 +1 known missense c.1055 p.T352M 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 CAMK1D HGNC ENSG00000183049 89 0 0 31 16 34.0426 CLRN3 0 genome.wustl.edu 37 10 129682059 129682059 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 129682059 129682059 A G SNP CLRN3 ENST00000368671 human ensembl 74_37 -1 known missense c.310 p.S104P 0.107 NULL NULL - no_errors CLRN3 HGNC ENSG00000180745 127 1 0.78125 104 8 7.14286 GPR123 0 genome.wustl.edu 37 10 134942526 134942526 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 134942526 134942526 C T SNP GPR123 ENST00000607359 human ensembl 74_37 +1 putative silent c.3351 p.H1117 0.026 NULL pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like - no_errors GPR123 HGNC ENSG00000197177 10 0 0 8 4 33.3333 TUBGCP2 0 genome.wustl.edu 37 10 135096605 135096605 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 135096605 135096605 C T SNP TUBGCP2 ENST00000543663 human ensembl 74_37 -1 known missense c.2350 p.V784I 1.000 NULL pfam_TUBGCP,superfamily_Ocr - no_errors TUBGCP2 HGNC ENSG00000130640 58 0 0 28 31 52.5424 SLC39A12 0 genome.wustl.edu 37 10 18242334 18242334 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 18242334 18242334 G A SNP SLC39A12 ENST00000377369 human ensembl 74_37 +1 known silent c.129 p.P43 0.005 NULL pfam_ZIP - no_errors SLC39A12 HGNC ENSG00000148482 87 0 0 66 20 23.2558 SLC39A12 0 genome.wustl.edu 37 10 18254596 18254596 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 18254596 18254596 G A SNP SLC39A12 ENST00000377369 human ensembl 74_37 +1 known missense c.728 p.R243H 0.943 NULL pfam_ZIP - no_errors SLC39A12 HGNC ENSG00000148482 36 0 0 24 11 31.4286 KIAA1217 0 genome.wustl.edu 37 10 24813286 24813286 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 24813286 24813286 G A SNP KIAA1217 ENST00000376454 human ensembl 74_37 +1 known missense c.2491 p.A831T 0.102 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 110 0 0 85 10 10.5263 GAD2 0 genome.wustl.edu 37 10 26506865 26506865 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 26506865 26506865 G A SNP GAD2 ENST00000259271 human ensembl 74_37 +1 known silent c.231 p.Q77 1.000 NULL pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase - no_errors GAD2 HGNC ENSG00000136750 75 0 0 60 5 7.69231 YME1L1 0 genome.wustl.edu 37 10 27408258 27408258 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 27408258 27408258 T C SNP YME1L1 ENST00000326799 human ensembl 74_37 -1 known missense c.1703 p.K568R 1.000 pfam_Peptidase_M41,superfamily_P-loop_NTPase,tigrfam_FtsH pfam_Peptidase_M41,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH - no_errors YME1L1 HGNC ENSG00000136758 139 0 0 60 31 34.0659 LYZL2 0 genome.wustl.edu 37 10 30918549 30918549 + Missense_Mutation SNP G G C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 30918549 30918549 G C SNP LYZL2 ENST00000375318 human ensembl 74_37 -1 known missense c.86 p.A29G 0.000 NULL pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys - no_errors LYZL2 HGNC ENSG00000151033 51 0 0 38 5 11.6279 PITRM1 0 genome.wustl.edu 37 10 3182941 3182941 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 3182941 3182941 G A SNP PITRM1 ENST00000380989 human ensembl 74_37 -1 known silent c.2712 p.G904 0.050 pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 pfam_Peptidase_M16C_assoc,pfam_Peptidase_M16_C,pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16 - no_errors PITRM1 HGNC ENSG00000107959 9 0 0 2 2 50 KIF5B 0 genome.wustl.edu 37 10 32327717 32327717 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 32327717 32327717 T C SNP KIF5B ENST00000302418 human ensembl 74_37 -1 known missense c.431 p.D144G 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 KIF5B HGNC ENSG00000170759 31 0 0 14 4 22.2222 NRP1 0 genome.wustl.edu 37 10 33495183 33495183 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 33495183 33495183 C T SNP NRP1 ENST00000374816 human ensembl 74_37 -1 known missense c.1858 p.V620I 0.000 pirsf_Neuropilin pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,pirsf_Neuropilin,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors NRP1 HGNC ENSG00000099250 52 0 0 32 5 13.5135 HSD17B7P2 0 genome.wustl.edu 37 10 38654370 38654370 + RNA SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 38654370 38654370 A G SNP HSD17B7P2 ENST00000494540 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HSD17B7P2 HGNC ENSG00000099251 60 0 0 39 5 11.3636 HSD17B7P2 0 genome.wustl.edu 37 10 38654495 38654495 + RNA SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 38654495 38654495 G T SNP HSD17B7P2 ENST00000494540 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HSD17B7P2 HGNC ENSG00000099251 32 0 0 26 15 36.5854 LOC441666 0 genome.wustl.edu 37 10 42832147 42832147 + RNA SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 42832147 42832147 G T SNP LOC441666 ENST00000609841 human ensembl 74_37 -1 known rna NULL NULL 0.972 - - - no_errors RP11-313J2.1 Clone_based_vega_gene ENSG00000215146 14 0 0 14 4 22.2222 RET 0 genome.wustl.edu 37 10 43606912 43606912 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 43606912 43606912 A G SNP RET ENST00000355710 human ensembl 74_37 +1 known silent c.1521 p.S507 0.000 pirsf_Tyr_kinase_Ret_rcpt pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Cadherin - no_errors RET HGNC ENSG00000165731 30 0 0 24 3 11.1111 C10orf10 0 genome.wustl.edu 37 10 45473190 45473190 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 45473190 45473190 G A SNP C10orf10 ENST00000298295 human ensembl 74_37 -1 known missense c.289 p.P97S 0.003 NULL NULL - no_errors C10orf10 HGNC ENSG00000165507 90 0 0 58 28 32.5581 ANXA8L2 0 genome.wustl.edu 37 10 47756075 47756075 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 47756075 47756075 G A SNP ANXA8L2 ENST00000374277 human ensembl 74_37 +1 known missense c.535 p.A179T 0.992 prints_AnnexinVIII pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinVIII,prints_AnnexinIII - no_errors ANXA8L2 HGNC ENSG00000186807 290 0 0 174 63 26.5823 OGDHL 0 genome.wustl.edu 37 10 50945991 50945991 + Splice_Site SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 50945991 50945991 A G SNP OGDHL ENST00000374103 human ensembl 74_37 -1 known splice_site c.2517+2 e18+2 1.000 - - - no_errors OGDHL HGNC ENSG00000197444 252 0 0 199 13 6.13208 PCDH15 0 genome.wustl.edu 37 10 55616946 55616946 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 55616946 55616946 T C SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known silent c.3795 p.E1265 1.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 64 0 0 38 4 9.52381 PCDH15 0 genome.wustl.edu 37 10 55943276 55943276 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 55943276 55943276 C T SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known silent c.1518 p.T506 0.001 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 124 1 0.8 64 28 30.4348 FBXO18 0 genome.wustl.edu 37 10 5955763 5955763 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 5955763 5955763 A G SNP FBXO18 ENST00000379999 human ensembl 74_37 +1 known missense c.1418 p.Q473R 0.086 NULL pfam_UvrD-like_ATP-bd,pfam_F-box_dom,superfamily_P-loop_NTPase,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO18 HGNC ENSG00000134452 56 0 0 42 4 8.69565 BICC1 0 genome.wustl.edu 37 10 60573627 60573627 + Missense_Mutation SNP A A T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 60573627 60573627 A T SNP BICC1 ENST00000373886 human ensembl 74_37 +1 known missense c.2414 p.E805V 1.000 NULL pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1 - no_errors BICC1 HGNC ENSG00000122870 136 0 0 66 37 35.9223 JMJD1C 0 genome.wustl.edu 37 10 64975328 64975328 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 64975328 64975328 G A SNP JMJD1C ENST00000399262 human ensembl 74_37 -1 known silent c.807 p.N269 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 84 0 0 49 4 7.54717 SIRT1 0 genome.wustl.edu 37 10 69669181 69669181 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 69669181 69669181 C T SNP SIRT1 ENST00000212015 human ensembl 74_37 +1 known missense c.1339 p.P447S 1.000 pfam_Sirtuin,pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT1 HGNC ENSG00000096717 66 0 0 33 11 25 CCAR1 0 genome.wustl.edu 37 10 70513638 70513638 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 70513638 70513638 G A SNP CCAR1 ENST00000265872 human ensembl 74_37 +1 known missense c.1148 p.R383H 1.000 NULL pfam_SAP_dom,superfamily_NA-bd_OB-fold,smart_SAP_dom,pfscan_SAP_dom - no_errors CCAR1 HGNC ENSG00000060339 152 0 0 101 8 7.33945 SUPV3L1 0 genome.wustl.edu 37 10 70955048 70955048 + RNA SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 70955048 70955048 C T SNP SUPV3L1 ENST00000486661 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SUPV3L1 HGNC ENSG00000156502 52 0 0 14 12 46.1538 NPFFR1 0 genome.wustl.edu 37 10 72025953 72025953 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 72025953 72025953 C T SNP NPFFR1 ENST00000277942 human ensembl 74_37 -1 novel missense c.202 p.V68M 0.998 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_NPFF_rcpt_1,prints_NPFF_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPFFR1 HGNC ENSG00000148734 58 0 0 58 4 6.45161 PALD1 0 genome.wustl.edu 37 10 72298851 72298851 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 72298851 72298851 C A SNP PALD1 ENST00000263563 human ensembl 74_37 +1 known missense c.1573 p.L525M 0.995 NULL smart_Tyr_Pase_cat - no_errors PALD1 HGNC ENSG00000107719 43 0 0 25 10 28.5714 ADAMTS14 0 genome.wustl.edu 37 10 72468418 72468418 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 72468418 72468418 C T SNP ADAMTS14 ENST00000373208 human ensembl 74_37 +1 known missense c.754 p.R252W 1.000 NULL 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 123 0 0 39 20 33.8983 LOC101929145 0 genome.wustl.edu 37 10 75255537 75255537 + RNA SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 75255537 75255537 C T SNP LOC101929145 ENST00000422977 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-137L10.6 Clone_based_vega_gene ENSG00000221817 36 0 0 29 7 19.4444 USP54 0 genome.wustl.edu 37 10 75289520 75289520 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 75289520 75289520 A G SNP USP54 ENST00000339859 human ensembl 74_37 -1 known missense c.1978 p.S660P 1.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP54 HGNC ENSG00000166348 250 0 0 190 14 6.86275 MYOZ1 0 genome.wustl.edu 37 10 75391878 75391878 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 75391878 75391878 C T SNP MYOZ1 ENST00000359322 human ensembl 74_37 -1 known missense c.710 p.R237H 1.000 pfam_Calsarcin-bd pfam_Calsarcin-bd - no_errors MYOZ1 HGNC ENSG00000177791 90 0 0 39 17 30.3571 SYNPO2L 0 genome.wustl.edu 37 10 75407182 75407182 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 75407182 75407182 G A SNP SYNPO2L ENST00000394810 human ensembl 74_37 -1 known missense c.2228 p.A743V 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2L HGNC ENSG00000166317 123 0 0 85 29 25.4386 CAMK2G 0 genome.wustl.edu 37 10 75585057 75585057 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 75585057 75585057 C T SNP CAMK2G ENST00000423381 human ensembl 74_37 -1 known missense c.1135 p.A379T 0.998 NULL 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 CAMK2G HGNC ENSG00000148660 123 0 0 86 11 11.3402 KAT6B 0 genome.wustl.edu 37 10 76790792 76790792 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 76790792 76790792 C T SNP KAT6B ENST00000287239 human ensembl 74_37 +1 known silent c.6210 p.Y2070 1.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5_H15,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC ENSG00000156650 44 0 0 46 7 13.2075 DUSP13 0 genome.wustl.edu 37 10 76854517 76854517 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 76854517 76854517 G T SNP DUSP13 ENST00000491677 human ensembl 74_37 -1 known missense c.901 p.R301S 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 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 41 0 0 31 10 24.3902 DLG5 0 genome.wustl.edu 37 10 79601943 79601943 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 79601943 79601943 G A SNP DLG5 ENST00000372391 human ensembl 74_37 -1 known missense c.1133 p.A378V 1.000 NULL pfam_PDZ,pfam_DUF622,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like_dom,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG5 HGNC ENSG00000151208 108 0 0 63 41 39.4231 CDHR1 0 genome.wustl.edu 37 10 85973973 85973973 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 85973973 85973973 C T SNP CDHR1 ENST00000372117 human ensembl 74_37 +1 known missense c.2176 p.R726C 1.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR1 HGNC ENSG00000148600 123 0 0 82 44 34.9206 IFIT5 0 genome.wustl.edu 37 10 91178053 91178053 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 91178053 91178053 G A SNP IFIT5 ENST00000371795 human ensembl 74_37 +1 known missense c.1097 p.R366H 0.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT5 HGNC ENSG00000152778 62 0 0 18 10 35.7143 AMPD3 0 genome.wustl.edu 37 11 10524275 10524275 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 10524275 10524275 T C SNP AMPD3 ENST00000396553 human ensembl 74_37 +1 known missense c.1850 p.V617A 0.998 pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD3 HGNC ENSG00000133805 244 0 0 137 9 6.16438 RNF141 0 genome.wustl.edu 37 11 10536575 10536575 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 10536575 10536575 T C SNP RNF141 ENST00000265981 human ensembl 74_37 -1 known missense c.581 p.Q194R 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF141 HGNC ENSG00000110315 127 0 0 48 19 28.3582 MUC2 0 genome.wustl.edu 37 11 1098735 1098735 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 1098735 1098735 T C SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known missense c.7105 p.C2369R 1.000 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich 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 18 0 0 15 2 11.7647 PPP2R1B 0 genome.wustl.edu 37 11 111631733 111631733 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 111631733 111631733 G A SNP PPP2R1B ENST00000311129 human ensembl 74_37 -1 known missense c.349 p.R117C 1.000 superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP2R1B HGNC ENSG00000137713 71 0 0 37 13 26 HTR3A 0 genome.wustl.edu 37 11 113853935 113853935 + Silent SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 113853935 113853935 C A SNP HTR3A ENST00000355556 human ensembl 74_37 +1 known silent c.486 p.A162 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_A,prints_5HT3_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors HTR3A HGNC ENSG00000166736 224 0 0 143 44 23.5294 NXPE4 0 genome.wustl.edu 37 11 114453198 114453198 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 114453198 114453198 T C SNP NXPE4 ENST00000375478 human ensembl 74_37 -1 known silent c.642 p.Q214 0.000 pfam_NXPH/NXPE pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE4 HGNC ENSG00000137634 83 0 0 49 34 40.9639 APOA1 0 genome.wustl.edu 37 11 116706800 116706800 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 116706800 116706800 C T SNP APOA1 ENST00000236850 human ensembl 74_37 -1 known silent c.528 p.A176 0.011 pfam_ApoA1_A4_E pfam_ApoA1_A4_E - no_errors APOA1 HGNC ENSG00000118137 46 0 0 38 4 9.52381 PCSK7 0 genome.wustl.edu 37 11 117097932 117097932 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 117097932 117097932 G A SNP PCSK7 ENST00000320934 human ensembl 74_37 -1 known missense c.710 p.A237V 1.000 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK7 HGNC ENSG00000160613 126 0 0 58 39 40.2062 CEP164 0 genome.wustl.edu 37 11 117253535 117253535 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 117253535 117253535 C T SNP CEP164 ENST00000278935 human ensembl 74_37 +1 known missense c.1601 p.A534V 0.008 NULL superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors CEP164 HGNC ENSG00000110274 114 0 0 63 4 5.97015 DSCAML1 0 genome.wustl.edu 37 11 117307927 117307927 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 117307927 117307927 G A SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known missense c.4811 p.A1604V 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 148 0 0 95 33 25.7812 ARCN1 0 genome.wustl.edu 37 11 118452034 118452034 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 118452034 118452034 G A SNP ARCN1 ENST00000264028 human ensembl 74_37 +1 known missense c.77 p.R26Q 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pfscan_Clathrin_mu_C - no_errors ARCN1 HGNC ENSG00000095139 143 0 0 103 7 6.36364 ARCN1 0 genome.wustl.edu 37 11 118454013 118454013 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 118454013 118454013 G A SNP ARCN1 ENST00000264028 human ensembl 74_37 +1 known silent c.387 p.Q129 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pfscan_Clathrin_mu_C - no_errors ARCN1 HGNC ENSG00000095139 47 0 0 30 5 14.2857 BCL9L 0 genome.wustl.edu 37 11 118769978 118769978 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 118769978 118769978 A G SNP BCL9L ENST00000334801 human ensembl 74_37 -1 known missense c.3646 p.C1216R 0.992 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 16 0 0 11 5 31.25 C1QTNF5 0 genome.wustl.edu 37 11 119210189 119210189 + Missense_Mutation SNP G G C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 119210189 119210189 G C SNP C1QTNF5 ENST00000445041 human ensembl 74_37 -1 known missense c.584 p.A195G 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF5 HGNC ENSG00000223953 89 0 0 48 25 34.2466 ARHGEF12 0 genome.wustl.edu 37 11 120337927 120337927 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 120337927 120337927 C A SNP ARHGEF12 ENST00000356641 human ensembl 74_37 +1 known missense c.2707 p.R903S 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF12 HGNC ENSG00000196914 96 0 0 37 20 35.0877 MICAL2 0 genome.wustl.edu 37 11 12281474 12281474 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 12281474 12281474 C A SNP MICAL2 ENST00000379612 human ensembl 74_37 +1 known missense c.2686 p.L896M 0.999 NULL pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,prints_Rng_hydrolase-like,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICAL2 HGNC ENSG00000133816 12 0 0 10 9 47.3684 SNORD14C 0 genome.wustl.edu 37 11 122930046 122930046 + RNA SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 122930046 122930046 C A SNP SNORD14C ENST00000365382 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SNORD14C HGNC ENSG00000202252 21 0 0 11 9 45 OR6T1 0 genome.wustl.edu 37 11 123814132 123814132 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 123814132 123814132 G A SNP OR6T1 ENST00000321252 human ensembl 74_37 -1 known silent c.414 p.G138 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6T1 HGNC ENSG00000181499 48 0 0 35 20 36.3636 MUC5B 0 genome.wustl.edu 37 11 1250965 1250965 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 1250965 1250965 G T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.1157 p.G386V 0.000 pfam_TIL_dom,superfamily_TIL_dom 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 8 0 0 11 5 31.25 STT3A 0 genome.wustl.edu 37 11 125475553 125475553 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 125475553 125475553 T C SNP STT3A ENST00000392708 human ensembl 74_37 +1 known missense c.538 p.Y180H 1.000 pfam_Oligo_trans_STT3 pfam_Oligo_trans_STT3 - no_errors STT3A HGNC ENSG00000134910 162 0 0 73 22 23.1579 C11orf45 0 genome.wustl.edu 37 11 128774403 128774403 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 128774403 128774403 G A SNP C11orf45 ENST00000310799 human ensembl 74_37 -1 known missense c.59 p.T20M 0.000 NULL NULL - no_errors C11orf45 HGNC ENSG00000174370 119 0 0 71 31 30.3922 KCNJ5 0 genome.wustl.edu 37 11 128781633 128781633 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 128781633 128781633 A G SNP KCNJ5 ENST00000529694 human ensembl 74_37 +1 known silent c.465 p.R155 0.672 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_Kir3.4 - no_errors KCNJ5 HGNC ENSG00000120457 207 0 0 100 38 27.5362 ADAMTS15 0 genome.wustl.edu 37 11 130341187 130341187 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 130341187 130341187 C T SNP ADAMTS15 ENST00000299164 human ensembl 74_37 +1 known silent c.1987 p.L663 1.000 prints_Peptidase_M12B_ADAM-TS pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS,prints_Pept_M12B_ADAM-TS8 - no_errors ADAMTS15 HGNC ENSG00000166106 72 0 0 51 14 21.5385 COPB1 0 genome.wustl.edu 37 11 14496077 14496077 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 14496077 14496077 G A SNP COPB1 ENST00000249923 human ensembl 74_37 -1 known silent c.1701 p.R567 1.000 superfamily_ARM-type_fold,pirsf_COPB1 pfam_Coatomer_bsu_C,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1 - no_errors COPB1 HGNC ENSG00000129083 134 0 0 129 42 24.5614 BRSK2 0 genome.wustl.edu 37 11 1471011 1471011 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 1471011 1471011 G A SNP BRSK2 ENST00000382179 human ensembl 74_37 +1 known missense c.1370 p.R457Q 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 BRSK2 HGNC ENSG00000174672 124 0 0 63 54 46.1538 KRTAP5-5 0 genome.wustl.edu 37 11 1651222 1651222 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 1651222 1651222 G A SNP KRTAP5-5 ENST00000399676 human ensembl 74_37 +1 known missense c.152 p.G51D 1.000 NULL NULL - no_errors KRTAP5-5 HGNC ENSG00000185940 91 0 0 91 75 45.1807 ABCC8 0 genome.wustl.edu 37 11 17464410 17464410 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 17464410 17464410 A G SNP ABCC8 ENST00000302539 human ensembl 74_37 -1 known missense c.1487 p.L496P 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC8 HGNC ENSG00000006071 116 0 0 67 31 31.6327 KCNC1 0 genome.wustl.edu 37 11 17793944 17793944 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 17793944 17793944 A G SNP KCNC1 ENST00000265969 human ensembl 74_37 +1 known missense c.1303 p.I435V 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl,prints_K_chnl_volt-dep_Kv,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_Kv3,prints_K_chnl_volt-dep_Kv3.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC1 HGNC ENSG00000129159 127 0 0 64 49 43.3628 NAV2 0 genome.wustl.edu 37 11 20066984 20066984 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 20066984 20066984 G T SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known missense c.3739 p.G1247C 0.998 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 46 0 0 37 16 30.1887 NAV2 0 genome.wustl.edu 37 11 20113820 20113820 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 20113820 20113820 C T SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known silent c.5898 p.S1966 1.000 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 160 1 0.621118 125 26 17.2185 KIAA1549L 0 genome.wustl.edu 37 11 33565884 33565884 + Splice_Site SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 33565884 33565884 T C SNP KIAA1549L ENST00000321505 human ensembl 74_37 +1 known splice_site c.1882+2 e1+2 1.000 - - - no_errors KIAA1549L HGNC ENSG00000110427 127 0 0 62 35 36.0825 ACCS 0 genome.wustl.edu 37 11 44102617 44102617 + Splice_Site SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 44102617 44102617 T C SNP ACCS ENST00000263776 human ensembl 74_37 +1 known splice_site c.969+2 e10+2 1.000 - - - no_errors ACCS HGNC ENSG00000110455 71 0 0 67 4 5.6338 DGKZ 0 genome.wustl.edu 37 11 46388002 46388002 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 46388002 46388002 A G SNP DGKZ ENST00000454345 human ensembl 74_37 +1 known missense c.196 p.R66G 0.038 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKZ HGNC ENSG00000149091 8 0 0 4 3 42.8571 F2 0 genome.wustl.edu 37 11 46747567 46747567 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 46747567 46747567 G T SNP F2 ENST00000311907 human ensembl 74_37 +1 known missense c.718 p.A240S 0.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pirsf_Prothrombin/thrombin,pfscan_Kringle 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 101 0 0 71 16 18.3908 NR1H3 0 genome.wustl.edu 37 11 47282096 47282096 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 47282096 47282096 C T SNP NR1H3 ENST00000441012 human ensembl 74_37 +1 known silent c.369 p.R123 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Ecdystd_rcpt - no_errors NR1H3 HGNC ENSG00000025434 61 0 0 59 4 6.34921 C1QTNF4 0 genome.wustl.edu 37 11 47612277 47612277 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 47612277 47612277 C T SNP C1QTNF4 ENST00000302514 human ensembl 74_37 -1 known missense c.86 p.R29H 1.000 superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,prints_C1q,pfscan_C1q - no_errors C1QTNF4 HGNC ENSG00000172247 19 0 0 22 5 18.5185 PTDSS2 0 genome.wustl.edu 37 11 486958 486958 + Missense_Mutation SNP A A C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 486958 486958 A C SNP PTDSS2 ENST00000308020 human ensembl 74_37 +1 known missense c.455 p.Q152P 1.000 pfam_PSS pfam_PSS - no_errors PTDSS2 HGNC ENSG00000174915 111 0 0 81 27 25 RNH1 0 genome.wustl.edu 37 11 494780 494780 + Splice_Site SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 494780 494780 T C SNP RNH1 ENST00000354420 human ensembl 74_37 -1 known splice_site c.1299-2 e9-2 0.990 - - - no_errors RNH1 HGNC ENSG00000023191 76 0 0 63 5 7.35294 OR5L1 0 genome.wustl.edu 37 11 55579770 55579770 + Silent SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 55579770 55579770 G T SNP OR5L1 ENST00000333973 human ensembl 74_37 +1 known silent c.828 p.V276 0.697 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L1 HGNC ENSG00000186117 72 0 0 58 31 34.8315 OR5I1 0 genome.wustl.edu 37 11 55703317 55703317 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 55703317 55703317 A G SNP OR5I1 ENST00000301532 human ensembl 74_37 -1 known missense c.560 p.L187P 0.002 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 OR5I1 HGNC ENSG00000167825 44 0 0 27 23 46 RASSF7 0 genome.wustl.edu 37 11 562253 562253 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 562253 562253 G A SNP RASSF7 ENST00000344375 human ensembl 74_37 +1 known missense c.299 p.C100Y 0.047 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc - no_errors RASSF7 HGNC ENSG00000099849 79 0 0 38 22 36.6667 OR5M10 0 genome.wustl.edu 37 11 56345112 56345112 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 56345112 56345112 C A SNP OR5M10 ENST00000526812 human ensembl 74_37 -1 known missense c.86 p.G29V 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M10 HGNC ENSG00000254834 106 0 0 84 7 7.69231 PRG3 0 genome.wustl.edu 37 11 57146221 57146221 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 57146221 57146221 C T SNP PRG3 ENST00000287143 human ensembl 74_37 -1 known missense c.440 p.R147H 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,prints_Eosinophil_major_basic - no_errors PRG3 HGNC ENSG00000156575 273 0 0 171 83 32.6772 OSBP 0 genome.wustl.edu 37 11 59345799 59345799 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 59345799 59345799 G A SNP OSBP ENST00000263847 human ensembl 74_37 -1 known missense c.1883 p.T628M 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBP HGNC ENSG00000110048 98 0 0 58 45 43.6893 PATL1 0 genome.wustl.edu 37 11 59425190 59425190 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 59425190 59425190 G T SNP PATL1 ENST00000300146 human ensembl 74_37 -1 known missense c.434 p.P145H 0.998 pfam_Topo_II-assoc_PAT1 pfam_Topo_II-assoc_PAT1 - no_errors PATL1 HGNC ENSG00000166889 45 0 0 55 5 8.33333 OR56A1 0 genome.wustl.edu 37 11 6048455 6048455 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 6048455 6048455 C T SNP OR56A1 ENST00000316650 human ensembl 74_37 -1 known silent c.480 p.A160 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR56A1 HGNC ENSG00000180934 114 0 0 70 31 30.6931 DDB1 0 genome.wustl.edu 37 11 61099040 61099040 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 61099040 61099040 G A SNP DDB1 ENST00000301764 human ensembl 74_37 -1 known missense c.185 p.A62V 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors DDB1 HGNC ENSG00000167986 51 0 0 36 30 45.4545 DAGLA 0 genome.wustl.edu 37 11 61511766 61511766 + Silent SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 61511766 61511766 C A SNP DAGLA ENST00000257215 human ensembl 74_37 +1 known silent c.2934 p.G978 1.000 NULL pfam_Lipase_3 - no_errors DAGLA HGNC ENSG00000134780 108 1 0.917431 68 27 28.4211 FADS2 0 genome.wustl.edu 37 11 61596030 61596030 + Silent SNP C C G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 61596030 61596030 C G SNP FADS2 ENST00000278840 human ensembl 74_37 +1 known silent c.168 p.G56 0.246 pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5-like_heme/steroid-bd pfam_Fatty_acid_desaturase-1,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5-like_heme/steroid-bd - no_errors FADS2 HGNC ENSG00000134824 49 0 0 38 19 33.3333 FADS3 0 genome.wustl.edu 37 11 61643464 61643464 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 61643464 61643464 G A SNP FADS3 ENST00000527697 human ensembl 74_37 -1 putative missense c.800 p.T267M 0.000 pfam_Fatty_acid_desaturase-1 pfam_Fatty_acid_desaturase-1 - no_errors FADS3 HGNC ENSG00000221968 110 0 0 58 34 36.9565 SCGB1A1 0 genome.wustl.edu 37 11 62189743 62189743 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 62189743 62189743 A G SNP SCGB1A1 ENST00000278282 human ensembl 74_37 +1 known missense c.106 p.M36V 0.000 pfam_Secretoglobin,superfamily_Secretoglobin,smart_Secretoglobin,prints_Uteroglobin pfam_Secretoglobin,superfamily_Secretoglobin,smart_Secretoglobin,prints_Uteroglobin - no_errors SCGB1A1 HGNC ENSG00000149021 111 0 0 59 18 23.3766 OR52W1 0 genome.wustl.edu 37 11 6221292 6221292 + Missense_Mutation SNP T T A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 6221292 6221292 T A SNP OR52W1 ENST00000311352 human ensembl 74_37 +1 known missense c.839 p.I280N 0.987 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR52W1 HGNC ENSG00000175485 519 0 0 385 27 6.5534 SLC22A10 0 genome.wustl.edu 37 11 63064835 63064835 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 63064835 63064835 C T SNP SLC22A10 ENST00000332793 human ensembl 74_37 +1 known silent c.567 p.C189 0.000 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 SLC22A10 HGNC ENSG00000184999 115 0 0 88 5 5.37634 RARRES3 0 genome.wustl.edu 37 11 63313655 63313655 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 63313655 63313655 C T SNP RARRES3 ENST00000255688 human ensembl 74_37 +1 known missense c.422 p.T141M 0.000 NULL pfam_LRAT-like_dom - no_errors RARRES3 HGNC ENSG00000133321 318 0 0 198 104 34.4371 MAP4K2 0 genome.wustl.edu 37 11 64566945 64566945 + Missense_Mutation SNP T T G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 64566945 64566945 T G SNP MAP4K2 ENST00000294066 human ensembl 74_37 -1 known missense c.1001 p.Q334P 1.000 superfamily_Kinase-like_dom 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 MAP4K2 HGNC ENSG00000168067 85 0 0 69 16 18.8235 PPP2R5B 0 genome.wustl.edu 37 11 64695592 64695592 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 64695592 64695592 G A SNP PPP2R5B ENST00000164133 human ensembl 74_37 +1 known missense c.553 p.V185M 0.999 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5B HGNC ENSG00000068971 137 0 0 72 37 33.945 DNHD1 0 genome.wustl.edu 37 11 6524067 6524067 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 6524067 6524067 T C SNP DNHD1 ENST00000254579 human ensembl 74_37 +1 known silent c.831 p.D277 0.000 NULL pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 91 0 0 65 4 5.7971 MALAT1 0 genome.wustl.edu 37 11 65272357 65272357 + RNA SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 65272357 65272357 A G SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.195 - - - no_errors MALAT1 HGNC ENSG00000251562 40 0 0 23 9 28.125 EHBP1L1 0 genome.wustl.edu 37 11 65349561 65349561 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 65349561 65349561 A G SNP EHBP1L1 ENST00000309295 human ensembl 74_37 +1 known missense c.1418 p.E473G 0.139 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1L1 HGNC ENSG00000173442 42 0 0 34 10 22.7273 DRAP1 0 genome.wustl.edu 37 11 65687309 65687309 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 65687309 65687309 T C SNP DRAP1 ENST00000312515 human ensembl 74_37 +1 known missense c.101 p.V34A 1.000 pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold - no_errors DRAP1 HGNC ENSG00000175550 59 0 0 51 4 7.27273 CATSPER1 0 genome.wustl.edu 37 11 65784571 65784571 + Missense_Mutation SNP T T G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 65784571 65784571 T G SNP CATSPER1 ENST00000312106 human ensembl 74_37 -1 known missense c.2276 p.Q759P 1.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER1 HGNC ENSG00000175294 42 0 0 20 9 31.0345 TMEM151A 0 genome.wustl.edu 37 11 66061945 66061945 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 66061945 66061945 C T SNP TMEM151A ENST00000327259 human ensembl 74_37 +1 known silent c.228 p.A76 0.006 NULL NULL - no_errors TMEM151A HGNC ENSG00000179292 24 0 0 25 21 45.6522 TMEM151A 0 genome.wustl.edu 37 11 66061972 66061972 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 66061972 66061972 G A SNP TMEM151A ENST00000327259 human ensembl 74_37 +1 known silent c.255 p.P85 0.003 NULL NULL - no_errors TMEM151A HGNC ENSG00000179292 24 0 0 20 24 54.5455 ILK 0 genome.wustl.edu 37 11 6630018 6630018 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 6630018 6630018 G A SNP ILK ENST00000299421 human ensembl 74_37 +1 known missense c.446 p.R149Q 1.000 superfamily_Ankyrin_rpt-contain_dom,pirsf_Integrin-linked_kinase pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ankyrin_rpt,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,pirsf_Integrin-linked_kinase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ILK HGNC ENSG00000166333 75 0 0 42 37 46.8354 PPP1CA 0 genome.wustl.edu 37 11 67166078 67166078 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 67166078 67166078 C T SNP PPP1CA ENST00000312989 human ensembl 74_37 -1 known silent c.954 p.G318 1.000 NULL pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP1CA HGNC ENSG00000172531 60 0 0 56 5 8.19672 LRP5 0 genome.wustl.edu 37 11 68153910 68153910 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 68153910 68153910 A G SNP LRP5 ENST00000294304 human ensembl 74_37 +1 known missense c.1142 p.D381G 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6,smart_LDLR_classB_rpt pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 65 0 0 71 5 6.57895 OR2D2 0 genome.wustl.edu 37 11 6913395 6913395 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 6913395 6913395 C T SNP OR2D2 ENST00000299459 human ensembl 74_37 -1 known missense c.337 p.A113T 0.988 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_Olfact_rcpt - no_errors OR2D2 HGNC ENSG00000166368 87 0 0 88 9 9.27835 SHANK2 0 genome.wustl.edu 37 11 70332338 70332338 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 70332338 70332338 C T SNP SHANK2 ENST00000338508 human ensembl 74_37 -1 known missense c.4063 p.E1355K 0.941 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 48 0 0 44 23 34.3284 DHCR7 0 genome.wustl.edu 37 11 71150032 71150032 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 71150032 71150032 G A SNP DHCR7 ENST00000355527 human ensembl 74_37 -1 known missense c.724 p.R242C 0.998 pfam_Ergosterol_biosynth_ERG4_ERG24 pfam_Ergosterol_biosynth_ERG4_ERG24 - no_errors DHCR7 HGNC ENSG00000172893 76 0 0 33 16 32.6531 INPPL1 0 genome.wustl.edu 37 11 71948719 71948719 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 71948719 71948719 C T SNP INPPL1 ENST00000298229 human ensembl 74_37 +1 known missense c.3431 p.A1144V 0.002 NULL pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2 - no_errors INPPL1 HGNC ENSG00000165458 53 0 0 14 20 58.8235 STARD10 0 genome.wustl.edu 37 11 72466074 72466074 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 72466074 72466074 C T SNP STARD10 ENST00000334805 human ensembl 74_37 -1 known silent c.744 p.A248 0.769 NULL pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom - no_errors STARD10 HGNC ENSG00000214530 29 0 0 12 5 29.4118 STARD10 0 genome.wustl.edu 37 11 72469592 72469592 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 72469592 72469592 A G SNP STARD10 ENST00000334805 human ensembl 74_37 -1 known missense c.442 p.Y148H 1.000 pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom - no_errors STARD10 HGNC ENSG00000214530 62 0 0 22 15 40.5405 GAB2 0 genome.wustl.edu 37 11 77937657 77937657 + Missense_Mutation SNP C C G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 77937657 77937657 C G SNP GAB2 ENST00000361507 human ensembl 74_37 -1 known missense c.1061 p.R354P 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB2 HGNC ENSG00000033327 102 0 0 45 21 31.8182 C11orf82 0 genome.wustl.edu 37 11 82643483 82643483 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 82643483 82643483 A G SNP C11orf82 ENST00000430323 human ensembl 74_37 +1 known missense c.1103 p.H368R 0.000 NULL pfam_Rep_factor-A_C,superfamily_NA-bd_OB-fold - no_errors C11orf82 HGNC ENSG00000165490 304 1 0.327869 228 12 5 GRM5 0 genome.wustl.edu 37 11 88242557 88242557 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 88242557 88242557 C T SNP GRM5 ENST00000305447 human ensembl 74_37 -1 known missense c.2842 p.V948I 0.987 prints_GPCR_3_mtglu_rcpt_5 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 69 0 0 40 10 20 FAT3 0 genome.wustl.edu 37 11 92087537 92087537 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 92087537 92087537 C T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known silent c.2259 p.A753 0.001 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 190 0 0 81 44 35.2 KDM4D 0 genome.wustl.edu 37 11 94731056 94731056 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 94731056 94731056 G T SNP KDM4D ENST00000335080 human ensembl 74_37 +1 known missense c.520 p.G174C 1.000 smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4D HGNC ENSG00000186280 99 0 0 96 8 7.69231 MTMR2 0 genome.wustl.edu 37 11 95591764 95591764 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 95591764 95591764 A G SNP MTMR2 ENST00000346299 human ensembl 74_37 -1 known silent c.501 p.P167 0.411 NULL pfam_Myotubularin-like_Pase_dom,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors MTMR2 HGNC ENSG00000087053 159 0 0 66 14 17.5 MAML2 0 genome.wustl.edu 37 11 95826235 95826235 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 95826235 95826235 G A SNP MAML2 ENST00000524717 human ensembl 74_37 -1 known silent c.960 p.P320 0.990 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC ENSG00000184384 94 0 0 40 35 46.6667 NR1H4 0 genome.wustl.edu 37 12 100928723 100928723 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 100928723 100928723 G A SNP NR1H4 ENST00000551379 human ensembl 74_37 +1 known silent c.684 p.Q228 1.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt - no_errors NR1H4 HGNC ENSG00000012504 73 0 0 36 41 53.2468 UTP20 0 genome.wustl.edu 37 12 101736730 101736730 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 101736730 101736730 C T SNP UTP20 ENST00000261637 human ensembl 74_37 +1 known silent c.4308 p.F1436 1.000 NULL pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 90 0 0 36 27 42.8571 HCFC2 0 genome.wustl.edu 37 12 104480794 104480794 + Splice_Site SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 104480794 104480794 T C SNP HCFC2 ENST00000229330 human ensembl 74_37 +1 known splice_site c.1231+2 e8+2 0.967 - - - no_errors HCFC2 HGNC ENSG00000111727 45 0 0 21 24 53.3333 FICD 0 genome.wustl.edu 37 12 108913186 108913186 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 108913186 108913186 G A SNP FICD ENST00000552695 human ensembl 74_37 +1 known silent c.1311 p.S437 0.016 superfamily_Fido pfam_Fido,superfamily_Fido,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors FICD HGNC ENSG00000198855 46 0 0 59 10 14.4928 ACACB 0 genome.wustl.edu 37 12 109702080 109702080 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 109702080 109702080 C T SNP ACACB ENST00000338432 human ensembl 74_37 +1 known silent c.6831 p.G2277 0.987 pfam_Carboxyl_trans,pfscan_COA_CT_C 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 195 0 0 147 52 26.1307 CCDC63 0 genome.wustl.edu 37 12 111336860 111336860 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 111336860 111336860 G A SNP CCDC63 ENST00000308208 human ensembl 74_37 +1 known missense c.1273 p.A425T 0.984 NULL NULL - no_errors CCDC63 HGNC ENSG00000173093 56 0 0 8 62 88.5714 TRAFD1 0 genome.wustl.edu 37 12 112578723 112578723 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 112578723 112578723 C T SNP TRAFD1 ENST00000257604 human ensembl 74_37 +1 known missense c.338 p.T113M 0.998 NULL superfamily_TRAF-like - no_errors TRAFD1 HGNC ENSG00000135148 113 1 0.877193 22 88 80 HECTD4 0 genome.wustl.edu 37 12 112690240 112690240 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 112690240 112690240 T C SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known silent c.3024 p.T1008 0.980 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 148 0 0 127 28 18.0645 MED13L 0 genome.wustl.edu 37 12 116453016 116453016 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 116453016 116453016 G A SNP MED13L ENST00000281928 human ensembl 74_37 -1 known missense c.1073 p.T358M 1.000 pfam_Mediator_Med13_N_met/fun pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13L HGNC ENSG00000123066 113 0 0 14 73 83.908 ENSG00000256742 0 genome.wustl.edu 37 12 122018879 122018879 + RNA SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 122018879 122018879 G A SNP ENSG00000256742 ENST00000541574 human ensembl 74_37 +1 known rna NULL NULL 0.039 - - - no_errors RP13-941N14.1 Clone_based_vega_gene ENSG00000256742 55 0 0 3 48 94.1176 WDR66 0 genome.wustl.edu 37 12 122396951 122396951 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 122396951 122396951 G A SNP WDR66 ENST00000288912 human ensembl 74_37 +1 known missense c.2084 p.S695N 0.003 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR66 HGNC ENSG00000158023 185 0 0 95 64 40.2516 HCAR1 0 genome.wustl.edu 37 12 123213848 123213848 + Nonstop_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 123213848 123213848 A G SNP HCAR1 ENST00000356987 human ensembl 74_37 -1 known nonstop c.1039 p.*347R 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors HCAR1 HGNC ENSG00000196917 79 0 0 63 5 7.35294 PITPNM2 0 genome.wustl.edu 37 12 123471070 123471070 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 123471070 123471070 G A SNP PITPNM2 ENST00000320201 human ensembl 74_37 -1 known silent c.3639 p.D1213 0.998 pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2 pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM2 HGNC ENSG00000090975 21 0 0 21 5 19.2308 DNAH10 0 genome.wustl.edu 37 12 124414281 124414281 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 124414281 124414281 G A SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.12233 p.G4078D 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 31 0 0 21 4 16 ZNF664 0 genome.wustl.edu 37 12 124497439 124497439 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 124497439 124497439 A G SNP ZNF664 ENST00000337815 human ensembl 74_37 +1 known missense c.748 p.T250A 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF664 HGNC ENSG00000179195 70 0 0 20 114 85.0746 LOH12CR1 0 genome.wustl.edu 37 12 12618642 12618642 + Missense_Mutation SNP A A C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 12618642 12618642 A C SNP LOH12CR1 ENST00000314565 human ensembl 74_37 +1 known missense c.523 p.S175R 1.000 pfam_Tumour_suppressor_LOH1CR12 pfam_Tumour_suppressor_LOH1CR12 - no_errors LOH12CR1 HGNC ENSG00000165714 80 0 0 50 40 44.4444 RIMBP2 0 genome.wustl.edu 37 12 130929750 130929750 + Missense_Mutation SNP A A T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 130929750 130929750 A T SNP RIMBP2 ENST00000261655 human ensembl 74_37 -1 known missense c.595 p.Y199N 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 172 0 0 84 50 37.3134 EP400 0 genome.wustl.edu 37 12 132508398 132508398 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 132508398 132508398 G A SNP EP400 ENST00000333577 human ensembl 74_37 +1 known silent c.4875 p.P1625 0.003 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 65 0 0 56 4 6.66667 EP400 0 genome.wustl.edu 37 12 132551914 132551914 + Silent SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 132551914 132551914 C A SNP EP400 ENST00000333577 human ensembl 74_37 +1 known silent c.8865 p.T2955 0.328 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 170 0 0 183 32 14.8837 NOC4L 0 genome.wustl.edu 37 12 132632470 132632470 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 132632470 132632470 G A SNP NOC4L ENST00000330579 human ensembl 74_37 +1 known missense c.649 p.V217M 0.493 NULL pfam_CCAAT-binding_factor,superfamily_ARM-type_fold - no_errors NOC4L HGNC ENSG00000184967 16 0 0 5 18 78.2609 NOC4L 0 genome.wustl.edu 37 12 132633428 132633428 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 132633428 132633428 G A SNP NOC4L ENST00000330579 human ensembl 74_37 +1 known missense c.889 p.A297T 1.000 NULL pfam_CCAAT-binding_factor,superfamily_ARM-type_fold - no_errors NOC4L HGNC ENSG00000184967 25 0 0 19 6 24 WBP11 0 genome.wustl.edu 37 12 14952595 14952595 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 14952595 14952595 C T SNP WBP11 ENST00000261167 human ensembl 74_37 -1 known missense c.164 p.R55Q 1.000 pfam_WW_dom-bd_prot_11 pfam_WW_dom-bd_prot_11 - no_errors WBP11 HGNC ENSG00000084463 36 0 0 18 6 25 IQSEC3 0 genome.wustl.edu 37 12 176577 176577 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 176577 176577 A G SNP IQSEC3 ENST00000326261 human ensembl 74_37 +1 known missense c.529 p.K177E 1.000 NULL pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC3 HGNC ENSG00000120645 42 0 0 45 9 16.6667 CACNA2D4 0 genome.wustl.edu 37 12 1987496 1987496 + Nonsense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 1987496 1987496 G A SNP CACNA2D4 ENST00000444595 human ensembl 74_37 -1 known nonsense c.1756 p.R586* 0.875 NULL pfam_VWA_N,pfam_VWF_A,pfam_Cache_domain,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D4 HGNC ENSG00000151062 22 0 0 9 3 25 CACNA1C 0 genome.wustl.edu 37 12 2786947 2786947 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 2786947 2786947 A G SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known missense c.5005 p.I1669V 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 52 0 0 52 9 14.7541 CAPRIN2 0 genome.wustl.edu 37 12 30881656 30881656 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 30881656 30881656 A G SNP CAPRIN2 ENST00000251071 human ensembl 74_37 -1 known missense c.1708 p.W570R 1.000 NULL pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CAPRIN2 HGNC ENSG00000110888 106 0 0 68 13 16.0494 METTL20 0 genome.wustl.edu 37 12 31819052 31819052 + Nonsense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 31819052 31819052 G T SNP METTL20 ENST00000357721 human ensembl 74_37 +1 known nonsense c.346 p.G116* 1.000 pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Nicotinamide_N-MeTfrase-like pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Nicotinamide_N-MeTfrase-like - no_errors METTL20 HGNC ENSG00000139160 59 0 0 48 12 20 PKP2 0 genome.wustl.edu 37 12 32945632 32945632 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 32945632 32945632 G A SNP PKP2 ENST00000070846 human ensembl 74_37 -1 known silent c.2523 p.S841 0.727 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP2 HGNC ENSG00000057294 131 0 0 32 36 52.9412 PKP2 0 genome.wustl.edu 37 12 33030914 33030914 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 33030914 33030914 C T SNP PKP2 ENST00000070846 human ensembl 74_37 -1 known silent c.900 p.T300 0.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP2 HGNC ENSG00000057294 97 0 0 82 31 27.4336 SLC6A13 0 genome.wustl.edu 37 12 344273 344273 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 344273 344273 G A SNP SLC6A13 ENST00000343164 human ensembl 74_37 -1 known missense c.814 p.R272C 0.985 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT2 - no_errors SLC6A13 HGNC ENSG00000010379 124 0 0 114 6 5 PRMT8 0 genome.wustl.edu 37 12 3701471 3701471 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 3701471 3701471 G A SNP PRMT8 ENST00000382622 human ensembl 74_37 +1 known missense c.1054 p.E352K 1.000 pfam_Arg_MeTrfase pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors PRMT8 HGNC ENSG00000111218 143 0 0 135 55 28.9474 SLC48A1 0 genome.wustl.edu 37 12 48174056 48174056 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 48174056 48174056 G A SNP SLC48A1 ENST00000442218 human ensembl 74_37 +1 known missense c.433 p.D145N 1.000 NULL NULL - no_errors SLC48A1 HGNC ENSG00000211584 128 0 0 91 5 5.20833 C12orf68 0 genome.wustl.edu 37 12 48578233 48578233 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 48578233 48578233 A G SNP C12orf68 ENST00000316554 human ensembl 74_37 +1 known missense c.328 p.S110G 1.000 NULL NULL - no_errors C12orf68 HGNC ENSG00000177875 35 0 0 19 15 44.1176 ADCY6 0 genome.wustl.edu 37 12 49170050 49170050 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 49170050 49170050 G T SNP ADCY6 ENST00000307885 human ensembl 74_37 -1 known missense c.1619 p.A540E 0.995 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 ADCY6 HGNC ENSG00000174233 134 0 0 83 33 28.4483 CCDC65 0 genome.wustl.edu 37 12 49312165 49312165 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 49312165 49312165 T C SNP CCDC65 ENST00000266984 human ensembl 74_37 +1 known silent c.717 p.D239 0.982 NULL NULL - no_errors CCDC65 HGNC ENSG00000139537 104 0 0 114 8 6.55738 KMT2D 0 genome.wustl.edu 37 12 49426313 49426313 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 49426313 49426313 C T SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.12175 p.A4059T 0.016 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 15 0 0 14 6 30 SPATS2 0 genome.wustl.edu 37 12 49883337 49883337 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 49883337 49883337 A G SNP SPATS2 ENST00000321898 human ensembl 74_37 +1 known silent c.195 p.T65 0.998 superfamily_UBA-like pfam_DUF1387,superfamily_UBA-like - no_errors SPATS2 HGNC ENSG00000123352 63 0 0 51 12 19.0476 FAM186B 0 genome.wustl.edu 37 12 49993393 49993393 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 49993393 49993393 C T SNP FAM186B ENST00000257894 human ensembl 74_37 -1 known missense c.2030 p.S677N 0.002 NULL NULL - no_errors FAM186B HGNC ENSG00000135436 64 0 0 37 40 51.9481 KCNA1 0 genome.wustl.edu 37 12 5020592 5020592 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 5020592 5020592 G A SNP KCNA1 ENST00000382545 human ensembl 74_37 +1 known silent c.48 p.P16 0.978 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,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3 - no_errors KCNA1 HGNC ENSG00000111262 52 0 0 38 45 54.2169 KCNA1 0 genome.wustl.edu 37 12 5021140 5021140 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 5021140 5021140 C T SNP KCNA1 ENST00000382545 human ensembl 74_37 +1 known missense c.596 p.T199M 0.394 prints_K_chnl_volt-dep_Kv1.1 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,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3 - no_errors KCNA1 HGNC ENSG00000111262 78 0 0 97 15 13.3929 KCNA1 0 genome.wustl.edu 37 12 5021284 5021284 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 5021284 5021284 C T SNP KCNA1 ENST00000382545 human ensembl 74_37 +1 known missense c.740 p.T247M 1.000 pfam_Ion_trans_dom 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,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3 - no_errors KCNA1 HGNC ENSG00000111262 116 0 0 44 54 55.102 LETMD1 0 genome.wustl.edu 37 12 51442948 51442948 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 51442948 51442948 T C SNP LETMD1 ENST00000262055 human ensembl 74_37 +1 known missense c.254 p.L85P 0.999 pfam_LETM1 pfam_LETM1 - no_errors LETMD1 HGNC ENSG00000050426 73 0 0 34 14 29.1667 CSAD 0 genome.wustl.edu 37 12 53554063 53554063 + Missense_Mutation SNP A A C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 53554063 53554063 A C SNP CSAD ENST00000267085 human ensembl 74_37 -1 known missense c.1088 p.L363R 0.999 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 108 0 0 121 8 6.20155 MAP3K12 0 genome.wustl.edu 37 12 53878989 53878989 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 53878989 53878989 G A SNP MAP3K12 ENST00000267079 human ensembl 74_37 -1 known silent c.891 p.G297 0.653 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 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 MAP3K12 HGNC ENSG00000139625 104 0 0 100 7 6.54206 HOXC10 0 genome.wustl.edu 37 12 54379554 54379554 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 54379554 54379554 G A SNP HOXC10 ENST00000303460 human ensembl 74_37 +1 known missense c.511 p.E171K 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXC10 HGNC ENSG00000180818 55 0 0 75 6 7.40741 HOXC5 0 genome.wustl.edu 37 12 54426994 54426994 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 54426994 54426994 G A SNP HOXC5 ENST00000312492 human ensembl 74_37 +1 known missense c.88 p.A30T 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXC5 HGNC ENSG00000172789 102 0 0 61 70 53.4351 HOXC4 0 genome.wustl.edu 37 12 54448771 54448771 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 54448771 54448771 C T SNP HOXC4 ENST00000430889 human ensembl 74_37 +1 known silent c.577 p.L193 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXC4 Uniprot_gn ENSG00000273266 48 0 0 57 24 29.6296 NCKAP1L 0 genome.wustl.edu 37 12 54893228 54893228 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 54893228 54893228 C T SNP NCKAP1L ENST00000293373 human ensembl 74_37 +1 known silent c.192 p.N64 1.000 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1,superfamily_Nucl_hormone_rcpt_ligand-bd - no_errors NCKAP1L HGNC ENSG00000123338 65 0 0 46 15 24.5902 PPP1R1A 0 genome.wustl.edu 37 12 54971306 54971306 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 54971306 54971306 C T SNP PPP1R1A ENST00000547431 human ensembl 74_37 -1 novel missense c.328 p.V110M 0.001 NULL pfam_PPI_1DARPP-32 - no_errors PPP1R1A HGNC ENSG00000135447 95 0 0 86 44 33.8462 OR6C65 0 genome.wustl.edu 37 12 55795200 55795200 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 55795200 55795200 A G SNP OR6C65 ENST00000379665 human ensembl 74_37 +1 known silent c.888 p.K296 0.011 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR6C65 HGNC ENSG00000205328 43 0 0 40 13 24.5283 RAB5B 0 genome.wustl.edu 37 12 56384490 56384490 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 56384490 56384490 T C SNP RAB5B ENST00000360299 human ensembl 74_37 +1 known missense c.340 p.W114R 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,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 RAB5B HGNC ENSG00000111540 161 0 0 150 12 7.40741 IKZF4 0 genome.wustl.edu 37 12 56428548 56428548 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 56428548 56428548 T C SNP IKZF4 ENST00000262032 human ensembl 74_37 +1 known silent c.1191 p.P397 0.028 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF4 HGNC ENSG00000123411 97 0 0 75 20 21.0526 PAN2 0 genome.wustl.edu 37 12 56722284 56722284 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 56722284 56722284 G A SNP PAN2 ENST00000425394 human ensembl 74_37 -1 known missense c.424 p.R142C 1.000 superfamily_WD40_repeat_dom pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Peptidase_C19/C67,superfamily_RNaseH-like_dom,superfamily_WD40_repeat_dom,smart_Exonuclease,pfscan_Peptidase_C19/C67 - no_errors PAN2 HGNC ENSG00000135473 135 0 0 119 46 27.8788 MIP 0 genome.wustl.edu 37 12 56845068 56845068 + Missense_Mutation SNP A A C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 56845068 56845068 A C SNP MIP ENST00000257979 human ensembl 74_37 -1 known missense c.788 p.L263R 1.000 NULL pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP - no_errors MIP HGNC ENSG00000135517 86 0 0 61 6 8.95522 MIP 0 genome.wustl.edu 37 12 56848194 56848194 + Missense_Mutation SNP A A C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 56848194 56848194 A C SNP MIP ENST00000257979 human ensembl 74_37 -1 known missense c.204 p.N68K 0.993 pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP - no_errors MIP HGNC ENSG00000135517 94 0 0 69 58 45.6693 MIR1228 0 genome.wustl.edu 37 12 57588316 57588316 + RNA SNP T T A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 57588316 57588316 T A SNP MIR1228 ENST00000408438 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR1228 HGNC ENSG00000221365 155 0 0 156 38 19.5876 VWF 0 genome.wustl.edu 37 12 6101113 6101113 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 6101113 6101113 C T SNP VWF ENST00000261405 human ensembl 74_37 -1 known missense c.6670 p.V2224M 0.000 pirsf_VWF,pfam_TIL_dom,superfamily_TIL_dom pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,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_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 42 0 0 56 7 11.1111 USP15 0 genome.wustl.edu 37 12 62785090 62785090 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 62785090 62785090 C T SNP USP15 ENST00000280377 human ensembl 74_37 +1 known missense c.2114 p.T705M 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,smart_Pept_C19_DUSP,pfscan_Peptidase_C19/C67 - no_errors USP15 HGNC ENSG00000135655 100 0 0 42 34 44.7368 SCNN1A 0 genome.wustl.edu 37 12 6465108 6465108 + RNA SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 6465108 6465108 G A SNP SCNN1A ENST00000536087 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors SCNN1A HGNC ENSG00000111319 50 0 0 49 9 15.5172 XPOT 0 genome.wustl.edu 37 12 64813965 64813965 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 64813965 64813965 C T SNP XPOT ENST00000332707 human ensembl 74_37 +1 known missense c.605 p.T202M 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 104 0 0 52 11 17.4603 XPOT 0 genome.wustl.edu 37 12 64819119 64819119 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 64819119 64819119 T C SNP XPOT ENST00000332707 human ensembl 74_37 +1 known missense c.1454 p.L485P 1.000 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 105 0 0 52 46 46.9388 LEMD3 0 genome.wustl.edu 37 12 65633992 65633992 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 65633992 65633992 C T SNP LEMD3 ENST00000308330 human ensembl 74_37 +1 known silent c.2100 p.R700 0.994 pfam_Inner-Nucl-membr_MAN1 pfam_Inner-Nucl-membr_MAN1,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom - no_errors LEMD3 HGNC ENSG00000174106 136 0 0 70 8 10.2564 CHD4 0 genome.wustl.edu 37 12 6701093 6701093 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 6701093 6701093 C T SNP CHD4 ENST00000309577 human ensembl 74_37 -1 known missense c.3079 p.V1027M 0.999 pfam_HDA_complex_subunit-2/3,superfamily_P-loop_NTPase pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 67 0 0 64 26 28.8889 DYRK2 0 genome.wustl.edu 37 12 68050922 68050922 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 68050922 68050922 C T SNP DYRK2 ENST00000344096 human ensembl 74_37 +1 known missense c.235 p.H79Y 0.941 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 DYRK2 HGNC ENSG00000127334 78 0 0 48 44 47.8261 NUP107 0 genome.wustl.edu 37 12 69085852 69085852 + Silent SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 69085852 69085852 C A SNP NUP107 ENST00000229179 human ensembl 74_37 +1 known silent c.408 p.I136 0.967 NULL pfam_Nup84_Nup100 - no_errors NUP107 HGNC ENSG00000111581 86 0 0 70 5 6.66667 NUP107 0 genome.wustl.edu 37 12 69107564 69107564 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 69107564 69107564 T C SNP NUP107 ENST00000229179 human ensembl 74_37 +1 known silent c.945 p.S315 0.983 pfam_Nup84_Nup100 pfam_Nup84_Nup100 - no_errors NUP107 HGNC ENSG00000111581 110 0 0 64 12 15.7895 LEPREL2 0 genome.wustl.edu 37 12 6946910 6946910 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 6946910 6946910 C T SNP LEPREL2 ENST00000396725 human ensembl 74_37 +1 known missense c.1723 p.R575C 1.000 smart_Pro_4_hyd_alph smart_Pro_4_hyd_alph - no_errors LEPREL2 HGNC ENSG00000110811 31 0 0 33 5 13.1579 USP5 0 genome.wustl.edu 37 12 6970756 6970756 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 6970756 6970756 C A SNP USP5 ENST00000229268 human ensembl 74_37 +1 known missense c.1648 p.L550M 0.989 pfam_Peptidase_C19/C67,pirsf_Ubiquitinyl_hydrolase,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP5 HGNC ENSG00000111667 83 0 0 58 15 20.5479 KCNC2 0 genome.wustl.edu 37 12 75601576 75601576 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 75601576 75601576 G A SNP KCNC2 ENST00000549446 human ensembl 74_37 -1 known missense c.188 p.P63L 0.950 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like 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_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC2 HGNC ENSG00000166006 17 0 0 22 30 57.6923 NAV3 0 genome.wustl.edu 37 12 78542637 78542637 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 78542637 78542637 C T SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known missense c.4723 p.R1575W 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 50 0 0 25 7 21.875 MYF6 0 genome.wustl.edu 37 12 81101720 81101720 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 81101720 81101720 C T SNP MYF6 ENST00000228641 human ensembl 74_37 +1 known silent c.222 p.P74 0.001 pfam_Basic,smart_Basic pfam_Basic,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MYF6 HGNC ENSG00000111046 94 0 0 95 5 5 METTL25 0 genome.wustl.edu 37 12 82871071 82871071 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 82871071 82871071 A G SNP METTL25 ENST00000248306 human ensembl 74_37 +1 known silent c.1659 p.V553 0.995 NULL NULL - no_errors METTL25 HGNC ENSG00000127720 122 0 0 59 13 18.0556 MGAT4C 0 genome.wustl.edu 37 12 86373627 86373627 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 86373627 86373627 G A SNP MGAT4C ENST00000393205 human ensembl 74_37 -1 known missense c.964 p.R322C 1.000 pfam_Glyco_transf_54 pfam_Glyco_transf_54,superfamily_LSM_dom - no_errors MGAT4C HGNC ENSG00000182050 90 0 0 46 32 41.0256 MGAT4C 0 genome.wustl.edu 37 12 86373679 86373679 + Missense_Mutation SNP A A C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 86373679 86373679 A C SNP MGAT4C ENST00000393205 human ensembl 74_37 -1 known missense c.912 p.F304L 1.000 pfam_Glyco_transf_54 pfam_Glyco_transf_54,superfamily_LSM_dom - no_errors MGAT4C HGNC ENSG00000182050 64 0 0 66 4 5.71429 CEP290 0 genome.wustl.edu 37 12 88478553 88478553 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 88478553 88478553 A G SNP CEP290 ENST00000309041 human ensembl 74_37 -1 known missense c.4520 p.L1507P 1.000 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 50 0 0 25 12 32.4324 TMCC3 0 genome.wustl.edu 37 12 94975970 94975970 + Missense_Mutation SNP T T G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 94975970 94975970 T G SNP TMCC3 ENST00000261226 human ensembl 74_37 -1 known missense c.423 p.R141S 0.585 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2 - no_errors TMCC3 HGNC ENSG00000057704 106 0 0 67 17 20.2381 METAP2 0 genome.wustl.edu 37 12 95887859 95887859 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 95887859 95887859 T C SNP METAP2 ENST00000323666 human ensembl 74_37 +1 known silent c.456 p.S152 1.000 superfamily_Pept_M24_structural-domain pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP2 - no_errors METAP2 HGNC ENSG00000111142 77 0 0 22 37 62.7119 CD69 0 genome.wustl.edu 37 12 9907761 9907761 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 9907761 9907761 T C SNP CD69 ENST00000228434 human ensembl 74_37 -1 known missense c.284 p.K95R 0.998 pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CD69 HGNC ENSG00000110848 81 0 0 62 16 20.5128 NALCN-AS1 0 genome.wustl.edu 37 13 101707609 101707609 + RNA SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 101707609 101707609 G A SNP NALCN-AS1 ENST00000457843 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NALCN-AS1 HGNC ENSG00000233009 31 0 0 55 7 11.2903 NALCN 0 genome.wustl.edu 37 13 101936360 101936360 + Missense_Mutation SNP T T G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 101936360 101936360 T G SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.1058 p.E353A 1.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 53 0 0 45 3 6.25 COL4A1 0 genome.wustl.edu 37 13 110828812 110828812 + Missense_Mutation SNP A A C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 110828812 110828812 A C SNP COL4A1 ENST00000375820 human ensembl 74_37 -1 known missense c.3017 p.L1006R 0.910 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 110 0 0 57 4 6.55738 SOX1 0 genome.wustl.edu 37 13 112722252 112722252 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 112722252 112722252 G A SNP SOX1 ENST00000330949 human ensembl 74_37 +1 known missense c.280 p.E94K 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX1 HGNC ENSG00000182968 62 0 0 75 23 23.4694 ATP11A 0 genome.wustl.edu 37 13 113512204 113512204 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 113512204 113512204 A G SNP ATP11A ENST00000375630 human ensembl 74_37 +1 known missense c.2491 p.S831G 1.000 superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase 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 ATP11A HGNC ENSG00000068650 79 0 0 37 38 50.6667 MCF2L 0 genome.wustl.edu 37 13 113699656 113699656 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 113699656 113699656 C T SNP MCF2L ENST00000375604 human ensembl 74_37 +1 known missense c.521 p.A174V 0.967 superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom 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 68 0 0 91 9 9 ADPRHL1 0 genome.wustl.edu 37 13 114098772 114098772 + Missense_Mutation SNP A A C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 114098772 114098772 A C SNP ADPRHL1 ENST00000375418 human ensembl 74_37 -1 known missense c.347 p.L116R 1.000 pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro - no_errors ADPRHL1 HGNC ENSG00000153531 322 0 0 289 59 16.954 TUBA3C 0 genome.wustl.edu 37 13 19753647 19753647 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 19753647 19753647 G A SNP TUBA3C ENST00000400113 human ensembl 74_37 -1 known silent c.60 p.C20 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin,prints_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 TUBA3C HGNC ENSG00000198033 145 0 0 76 73 48.9933 ZMYM2 0 genome.wustl.edu 37 13 20608520 20608520 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 20608520 20608520 G A SNP ZMYM2 ENST00000382869 human ensembl 74_37 +1 known missense c.2095 p.V699I 1.000 smart_TRASH_dom pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM2 HGNC ENSG00000121741 106 0 0 35 43 55.1282 PABPC3 0 genome.wustl.edu 37 13 25670498 25670498 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 25670498 25670498 C T SNP PABPC3 ENST00000281589 human ensembl 74_37 +1 known silent c.162 p.Y54 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC3 HGNC ENSG00000151846 96 0 0 128 26 16.8831 PABPC3 0 genome.wustl.edu 37 13 25671157 25671157 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 25671157 25671157 C T SNP PABPC3 ENST00000281589 human ensembl 74_37 +1 known missense c.821 p.T274M 0.997 tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC3 HGNC ENSG00000151846 131 0 0 142 59 29.3532 GPR12 0 genome.wustl.edu 37 13 27333504 27333504 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 27333504 27333504 A G SNP GPR12 ENST00000381436 human ensembl 74_37 -1 known missense c.461 p.V154A 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR_3/6/12_orphan,prints_GPR12,prints_GPCR_Rhodpsn - no_errors GPR12 HGNC ENSG00000132975 51 0 0 49 56 53.3333 SNORD102 0 genome.wustl.edu 37 13 27829237 27829237 + RNA SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 27829237 27829237 C T SNP SNORD102 ENST00000384769 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SNORD102 HGNC ENSG00000207500 68 0 0 23 28 54.902 PAN3 0 genome.wustl.edu 37 13 28834624 28834624 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 28834624 28834624 A G SNP PAN3 ENST00000380958 human ensembl 74_37 +1 known missense c.1289 p.H430R 1.000 NULL superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_dom - no_errors PAN3 HGNC ENSG00000152520 113 0 0 102 7 6.42202 FLT1 0 genome.wustl.edu 37 13 28877304 28877304 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 28877304 28877304 C T SNP FLT1 ENST00000282397 human ensembl 74_37 -1 known silent c.4017 p.*1339 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR1_rcpt - no_errors FLT1 HGNC ENSG00000102755 68 0 0 76 5 6.17284 B3GALTL 0 genome.wustl.edu 37 13 31850906 31850906 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 31850906 31850906 G A SNP B3GALTL ENST00000343307 human ensembl 74_37 +1 known missense c.848 p.R283K 0.998 pfam_Fringe-like pfam_Fringe-like - no_errors B3GALTL HGNC ENSG00000187676 53 0 0 21 8 27.5862 BRCA2 0 genome.wustl.edu 37 13 32972674 32972674 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 32972674 32972674 G A SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known missense c.10024 p.E3342K 1.000 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 58 0 0 48 21 30.4348 NBEA 0 genome.wustl.edu 37 13 35733215 35733215 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 35733215 35733215 G T SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.2907 p.E969D 0.998 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 51 0 0 80 6 6.97674 SPG20 0 genome.wustl.edu 37 13 36909285 36909285 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 36909285 36909285 A G SNP SPG20 ENST00000355182 human ensembl 74_37 -1 known missense c.683 p.V228A 1.000 NULL pfam_Senescence/spartin,pfam_MIT,smart_MIT - no_errors SPG20 HGNC ENSG00000133104 83 0 0 42 51 54.8387 FREM2 0 genome.wustl.edu 37 13 39261662 39261662 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 39261662 39261662 G A SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.181 p.A61T 0.024 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 11 0 0 23 6 20.6897 COG6 0 genome.wustl.edu 37 13 40229900 40229900 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 40229900 40229900 G A SNP COG6 ENST00000455146 human ensembl 74_37 +1 known missense c.37 p.A13T 0.000 NULL pfam_COG6 - no_errors COG6 HGNC ENSG00000133103 15 0 0 20 4 16.6667 VWA8 0 genome.wustl.edu 37 13 42465631 42465631 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 42465631 42465631 C T SNP VWA8 ENST00000379310 human ensembl 74_37 -1 known silent c.576 p.L192 0.995 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A - no_errors VWA8 HGNC ENSG00000102763 131 0 0 71 72 50.3497 DGKH 0 genome.wustl.edu 37 13 42734149 42734149 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 42734149 42734149 C T SNP DGKH ENST00000337343 human ensembl 74_37 +1 known silent c.732 p.V244 0.011 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,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 DGKH HGNC ENSG00000102780 58 0 0 20 27 57.4468 DGKH 0 genome.wustl.edu 37 13 42773797 42773797 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 42773797 42773797 A G SNP DGKH ENST00000337343 human ensembl 74_37 +1 known missense c.2381 p.H794R 1.000 pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,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 DGKH HGNC ENSG00000102780 35 0 0 16 6 27.2727 FAM124A 0 genome.wustl.edu 37 13 51825756 51825756 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 51825756 51825756 C T SNP FAM124A ENST00000280057 human ensembl 74_37 +1 known missense c.361 p.R121W 0.757 NULL NULL - no_errors FAM124A HGNC ENSG00000150510 17 0 0 34 4 10.5263 LOC101930578 0 genome.wustl.edu 37 13 52864009 52864009 + RNA SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 52864009 52864009 C T SNP LOC101930578 ENST00000451298 human ensembl 74_37 -1 known rna NULL NULL 0.088 - - - no_errors RP11-248G5.8 Clone_based_vega_gene ENSG00000217576 24 0 0 27 6 18.1818 PCDH8 0 genome.wustl.edu 37 13 53420246 53420246 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 53420246 53420246 G A SNP PCDH8 ENST00000377942 human ensembl 74_37 -1 known missense c.2326 p.R776C 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH8 HGNC ENSG00000136099 102 0 0 58 29 33.3333 PCDH8 0 genome.wustl.edu 37 13 53420426 53420426 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 53420426 53420426 G A SNP PCDH8 ENST00000377942 human ensembl 74_37 -1 known missense c.2146 p.R716C 0.581 smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH8 HGNC ENSG00000136099 20 0 0 21 9 30 PCDH17 0 genome.wustl.edu 37 13 58208859 58208859 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 58208859 58208859 G A SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.2179 p.A727T 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 72 0 0 66 59 47.2 PCDH17 0 genome.wustl.edu 37 13 58298855 58298855 + Nonsense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 58298855 58298855 C A SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known nonsense c.2907 p.Y969* 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 76 0 0 27 42 60.8696 PCDH9 0 genome.wustl.edu 37 13 67802452 67802452 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 67802452 67802452 C T SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known missense c.121 p.G41R 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 105 0 0 38 51 57.3034 KLHL1 0 genome.wustl.edu 37 13 70514320 70514320 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 70514320 70514320 G A SNP KLHL1 ENST00000377844 human ensembl 74_37 -1 known missense c.866 p.A289V 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL1 HGNC ENSG00000150361 35 0 0 30 17 36.1702 LMO7 0 genome.wustl.edu 37 13 76429412 76429412 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 76429412 76429412 C T SNP LMO7 ENST00000341547 human ensembl 74_37 +1 known missense c.3832 p.R1278C 1.000 pfscan_Znf_LIM pfam_CH-domain,pfam_PDZ,pfam_Znf_LIM,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC ENSG00000136153 78 0 0 42 7 14.2857 MYCBP2 0 genome.wustl.edu 37 13 77670602 77670602 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 77670602 77670602 C T SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known missense c.9799 p.A3267T 1.000 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 67 0 0 53 16 23.1884 SLITRK1 0 genome.wustl.edu 37 13 84453795 84453795 + Silent SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 84453795 84453795 G T SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known silent c.1848 p.S616 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 49 0 0 52 4 7.14286 UGGT2 0 genome.wustl.edu 37 13 96555238 96555238 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 96555238 96555238 G T SNP UGGT2 ENST00000376747 human ensembl 74_37 -1 known missense c.2372 p.S791Y 1.000 NULL pfam_UDP-g_GGtrans,pfam_Glyco_trans_8 - no_errors UGGT2 HGNC ENSG00000102595 85 0 0 69 4 5.47945 OXGR1 0 genome.wustl.edu 37 13 97639850 97639850 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 97639850 97639850 A G SNP OXGR1 ENST00000298440 human ensembl 74_37 -1 known missense c.164 p.I55T 0.804 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors OXGR1 HGNC ENSG00000165621 22 0 0 28 22 44 RNF113B 0 genome.wustl.edu 37 13 98828988 98828988 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 98828988 98828988 G A SNP RNF113B ENST00000267291 human ensembl 74_37 -1 known missense c.503 p.S168F 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF113B HGNC ENSG00000139797 75 0 0 68 36 34.6154 CYP46A1 0 genome.wustl.edu 37 14 100192567 100192567 + Missense_Mutation SNP T T A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 100192567 100192567 T A SNP CYP46A1 ENST00000261835 human ensembl 74_37 +1 known missense c.1306 p.S436T 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP46A1 HGNC ENSG00000036530 88 0 0 70 5 6.66667 DYNC1H1 0 genome.wustl.edu 37 14 102455091 102455091 + Nonsense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 102455091 102455091 C T SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known nonsense c.2770 p.Q924* 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 92 0 0 52 22 29.7297 DYNC1H1 0 genome.wustl.edu 37 14 102493762 102493762 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 102493762 102493762 C T SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known missense c.8929 p.R2977W 0.979 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 105 0 0 75 7 8.53659 ASPG 0 genome.wustl.edu 37 14 104573661 104573661 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 104573661 104573661 T C SNP ASPG ENST00000455920 human ensembl 74_37 +1 known missense c.1412 p.L471P 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Asparaginase/glutaminase,pfam_Ankyrin_rpt,superfamily_Asparaginase/glutaminase,superfamily_Ankyrin_rpt-contain_dom,smart_Asparaginase/glutaminase,smart_Ankyrin_rpt,prints_Asparaginase/glutaminase,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_AsnASEI - no_errors ASPG HGNC ENSG00000166183 26 0 0 16 11 40.7407 JAG2 0 genome.wustl.edu 37 14 105613019 105613019 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 105613019 105613019 G A SNP JAG2 ENST00000331782 human ensembl 74_37 -1 known missense c.2522 p.T841M 1.000 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_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 46 0 0 41 8 16.3265 OR4K13 0 genome.wustl.edu 37 14 20502296 20502296 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 20502296 20502296 G A SNP OR4K13 ENST00000315693 human ensembl 74_37 -1 known silent c.622 p.L208 0.002 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K13 HGNC ENSG00000176253 94 0 0 61 47 43.5185 APEX1 0 genome.wustl.edu 37 14 20923873 20923873 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 20923873 20923873 G A SNP APEX1 ENST00000554325 human ensembl 74_37 +1 known missense c.69 p.M23I 0.000 NULL NULL - no_errors APEX1 HGNC ENSG00000100823 103 0 0 37 18 32.7273 SUPT16H 0 genome.wustl.edu 37 14 21829015 21829015 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 21829015 21829015 G A SNP SUPT16H ENST00000216297 human ensembl 74_37 -1 known silent c.2046 p.A682 0.993 pfam_FACT_Spt16p pfam_FACT_Spt16p,pfam_Pept_M24_structural-domain,pfam_DUF1747,superfamily_Pept_M24_structural-domain - no_errors SUPT16H HGNC ENSG00000092201 87 0 0 44 34 43.5897 CHD8 0 genome.wustl.edu 37 14 21896212 21896212 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 21896212 21896212 G A SNP CHD8 ENST00000399982 human ensembl 74_37 -1 known missense c.1417 p.R473C 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,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 CHD8 HGNC ENSG00000100888 137 0 0 72 44 37.931 MMP14 0 genome.wustl.edu 37 14 23312625 23312625 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 23312625 23312625 A G SNP MMP14 ENST00000311852 human ensembl 74_37 +1 known missense c.848 p.Y283C 1.000 pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP14 HGNC ENSG00000157227 146 0 0 120 7 5.51181 LRP10 0 genome.wustl.edu 37 14 23345494 23345494 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 23345494 23345494 T C SNP LRP10 ENST00000359591 human ensembl 74_37 +1 known missense c.1337 p.V446A 0.979 superfamily_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP10 HGNC ENSG00000197324 106 0 0 76 56 42.4242 IL25 0 genome.wustl.edu 37 14 23845070 23845070 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 23845070 23845070 G A SNP IL25 ENST00000329715 human ensembl 74_37 +1 known missense c.515 p.R172Q 1.000 pfam_IL-17_fam pfam_IL-17_fam - no_errors IL25 HGNC ENSG00000166090 126 0 0 112 13 10.4 LRRC16B 0 genome.wustl.edu 37 14 24534900 24534900 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 24534900 24534900 G A SNP LRRC16B ENST00000342740 human ensembl 74_37 +1 known missense c.3466 p.G1156S 0.068 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16B HGNC ENSG00000186648 148 0 0 101 35 25.7353 PCK2 0 genome.wustl.edu 37 14 24572735 24572735 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 24572735 24572735 C T SNP PCK2 ENST00000216780 human ensembl 74_37 +1 known silent c.1485 p.H495 0.077 pfam_PEP_carboxykinase_GTP,pirsf_PEP_carboxykinase_GTP pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP - no_errors PCK2 HGNC ENSG00000100889 116 0 0 55 29 34.5238 DHRS1 0 genome.wustl.edu 37 14 24760809 24760809 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 24760809 24760809 G A SNP DHRS1 ENST00000288111 human ensembl 74_37 -1 known missense c.677 p.A226V 0.063 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DHB_DH - no_errors DHRS1 HGNC ENSG00000157379 250 0 0 223 14 5.90717 COCH 0 genome.wustl.edu 37 14 31354747 31354747 + Missense_Mutation SNP T T A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 31354747 31354747 T A SNP COCH ENST00000216361 human ensembl 74_37 +1 known missense c.881 p.V294D 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A - no_errors COCH HGNC ENSG00000100473 104 0 0 48 9 15.7895 INSM2 0 genome.wustl.edu 37 14 36003677 36003677 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 36003677 36003677 G A SNP INSM2 ENST00000307169 human ensembl 74_37 +1 known silent c.219 p.S73 0.010 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors INSM2 HGNC ENSG00000168348 12 0 0 23 5 17.8571 DNAAF2 0 genome.wustl.edu 37 14 50100341 50100341 + Silent SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 50100341 50100341 G T SNP DNAAF2 ENST00000298292 human ensembl 74_37 -1 known silent c.1527 p.A509 0.318 NULL pfam_PIH - no_errors DNAAF2 HGNC ENSG00000165506 54 0 0 37 29 43.9394 NIN 0 genome.wustl.edu 37 14 51224327 51224327 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 51224327 51224327 G A SNP NIN ENST00000245441 human ensembl 74_37 -1 known missense c.3421 p.R1141W 0.000 NULL superfamily_tRNA-bd_arm,pfscan_EF_hand_dom - no_errors NIN HGNC ENSG00000100503 201 1 0.49505 109 46 29.6774 GCH1 0 genome.wustl.edu 37 14 55369080 55369080 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 55369080 55369080 G A SNP GCH1 ENST00000395514 human ensembl 74_37 -1 known missense c.302 p.A101V 1.000 tigrfam_GTP_CycHdrlase_I pfam_GTP_CycHdrlase_I_dom,tigrfam_GTP_CycHdrlase_I - no_errors GCH1 HGNC ENSG00000131979 51 0 0 30 4 11.7647 WDHD1 0 genome.wustl.edu 37 14 55462349 55462349 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 55462349 55462349 G A SNP WDHD1 ENST00000360586 human ensembl 74_37 -1 known silent c.1125 p.H375 0.135 NULL pfam_WD40_repeat,pfam_DUF3639,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,superfamily_HMG_box_dom,smart_WD40_repeat,smart_HMG_box_dom,pfscan_HMG_box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDHD1 HGNC ENSG00000198554 40 0 0 23 5 17.8571 TBPL2 0 genome.wustl.edu 37 14 55903630 55903630 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 55903630 55903630 T C SNP TBPL2 ENST00000247219 human ensembl 74_37 -1 known missense c.257 p.E86G 0.005 NULL pfam_TBP,prints_TBP - no_errors TBPL2 HGNC ENSG00000182521 90 0 0 43 35 44.8718 PPP1R36 0 genome.wustl.edu 37 14 65019530 65019530 + Splice_Site SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 65019530 65019530 A G SNP PPP1R36 ENST00000298705 human ensembl 74_37 +1 known splice_site c.135-2 e3-2 0.002 - - - no_errors PPP1R36 HGNC ENSG00000165807 53 0 0 19 11 36.6667 PLEKHG3 0 genome.wustl.edu 37 14 65210188 65210188 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 65210188 65210188 C T SNP PLEKHG3 ENST00000394691 human ensembl 74_37 +1 known missense c.3427 p.R1143W 0.681 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG3 HGNC ENSG00000126822 89 0 0 56 20 26.3158 FNTB 0 genome.wustl.edu 37 14 65494205 65494205 + Nonsense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 65494205 65494205 G T SNP FNTB ENST00000447296 human ensembl 74_37 +1 known nonsense c.511 p.E171* 0.986 pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_Prenyltrans,pfam_Transcrpt_activator_Churchill,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors FNTB HGNC ENSG00000257365 192 0 0 68 57 45.6 FNTB 0 genome.wustl.edu 37 14 65507587 65507587 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 65507587 65507587 G A SNP FNTB ENST00000447296 human ensembl 74_37 +1 known missense c.874 p.A292T 1.000 pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_Prenyltrans,pfam_Transcrpt_activator_Churchill,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors FNTB HGNC ENSG00000257365 100 1 0.990099 67 4 5.6338 PLEKHH1 0 genome.wustl.edu 37 14 68023986 68023986 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 68023986 68023986 G T SNP PLEKHH1 ENST00000329153 human ensembl 74_37 +1 known missense c.190 p.V64L 1.000 NULL pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH1 HGNC ENSG00000054690 28 0 0 21 8 27.5862 C14orf169 0 genome.wustl.edu 37 14 73959333 73959333 + RNA SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 73959333 73959333 G A SNP C14orf169 ENST00000531973 human ensembl 74_37 +1 known rna NULL NULL 0.974 - - - no_errors C14orf169 HGNC ENSG00000255242 68 0 0 52 6 10.3448 ELMSAN1 0 genome.wustl.edu 37 14 74203799 74203799 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 74203799 74203799 C T SNP ELMSAN1 ENST00000286523 human ensembl 74_37 -1 known missense c.1651 p.G551R 0.715 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC ENSG00000156030 92 0 0 42 39 48.1481 YLPM1 0 genome.wustl.edu 37 14 75265970 75265970 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 75265970 75265970 C T SNP YLPM1 ENST00000325680 human ensembl 74_37 +1 known missense c.3970 p.R1324C 0.979 NULL superfamily_P-loop_NTPase - no_errors YLPM1 HGNC ENSG00000119596 63 0 0 84 5 5.61798 YLPM1 0 genome.wustl.edu 37 14 75301989 75301989 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 75301989 75301989 G A SNP YLPM1 ENST00000325680 human ensembl 74_37 +1 known missense c.6316 p.E2106K 1.000 NULL superfamily_P-loop_NTPase - no_errors YLPM1 HGNC ENSG00000119596 67 0 0 65 13 16.6667 PROX2 0 genome.wustl.edu 37 14 75329843 75329843 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 75329843 75329843 C A SNP PROX2 ENST00000445876 human ensembl 74_37 -1 known missense c.695 p.R232M 0.020 NULL pfam_Homeo_prospero_dom,superfamily_Homeodomain-like - no_errors PROX2 HGNC ENSG00000119608 84 0 0 65 13 16.6667 PGF 0 genome.wustl.edu 37 14 75413539 75413539 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 75413539 75413539 A G SNP PGF ENST00000405431 human ensembl 74_37 -1 known missense c.505 p.C169R 0.000 NULL pfam_PDGF/VEGF_dom,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors PGF HGNC ENSG00000119630 13 0 0 7 6 46.1538 KIAA1737 0 genome.wustl.edu 37 14 77580621 77580621 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 77580621 77580621 G A SNP KIAA1737 ENST00000361786 human ensembl 74_37 +1 known missense c.1160 p.G387D 0.889 NULL NULL - no_errors KIAA1737 HGNC ENSG00000198894 109 0 0 90 5 5.26316 SNW1 0 genome.wustl.edu 37 14 78203418 78203418 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 78203418 78203418 T C SNP SNW1 ENST00000261531 human ensembl 74_37 -1 known silent c.534 p.R178 0.919 pfam_SKI-int_prot_SKIP_SNW-dom pfam_SKI-int_prot_SKIP_SNW-dom,superfamily_Signal_recog_particl_SRP54_hlx - no_errors SNW1 HGNC ENSG00000100603 112 0 0 43 7 14 NRXN3 0 genome.wustl.edu 37 14 79433613 79433613 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 79433613 79433613 G A SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known missense c.2807 p.R936H 0.993 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 59 0 0 36 21 36.8421 KCNK10 0 genome.wustl.edu 37 14 88652118 88652118 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 88652118 88652118 C T SNP KCNK10 ENST00000312350 human ensembl 74_37 -1 known missense c.1393 p.D465N 1.000 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK - no_errors KCNK10 HGNC ENSG00000100433 177 0 0 94 31 24.8 TTC8 0 genome.wustl.edu 37 14 89307467 89307467 + Nonsense_Mutation SNP T T G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 89307467 89307467 T G SNP TTC8 ENST00000556077 human ensembl 74_37 +1 known nonsense c.540 p.Y180* 1.000 NULL NULL - no_errors TTC8 HGNC ENSG00000165533 89 0 0 44 24 35.2941 RPS6KA5 0 genome.wustl.edu 37 14 91369214 91369214 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 91369214 91369214 T C SNP RPS6KA5 ENST00000261991 human ensembl 74_37 -1 known missense c.1057 p.T353A 1.000 pfam_Pkinase_C,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Aminoglycoside_PTrfase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_AGC-kinase_C,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom - no_errors RPS6KA5 HGNC ENSG00000100784 76 0 0 28 22 44 SERPINA11 0 genome.wustl.edu 37 14 94914898 94914898 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 94914898 94914898 T C SNP SERPINA11 ENST00000334708 human ensembl 74_37 -1 known missense c.214 p.N72D 0.999 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA11 HGNC ENSG00000186910 243 0 0 218 13 5.62771 DICER1 0 genome.wustl.edu 37 14 95574665 95574665 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 95574665 95574665 G T SNP DICER1 ENST00000343455 human ensembl 74_37 -1 known missense c.2432 p.P811H 1.000 NULL pfam_RNase_III_dom,pfam_PAZ_dom,pfam_Dicer_dimerisation_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_P-loop_NTPase,superfamily_PAZ_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_PAZ_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom - no_errors DICER1 HGNC ENSG00000100697 160 0 0 51 29 36.25 BCL11B 0 genome.wustl.edu 37 14 99697710 99697710 + Silent SNP A A C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 99697710 99697710 A C SNP BCL11B ENST00000357195 human ensembl 74_37 -1 known silent c.612 p.A204 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11B HGNC ENSG00000127152 43 0 0 31 8 20.5128 TM2D3 0 genome.wustl.edu 37 15 102182721 102182721 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 102182721 102182721 A G SNP TM2D3 ENST00000333202 human ensembl 74_37 -1 known silent c.705 p.V235 0.369 NULL pfam_TM2 - no_errors TM2D3 HGNC ENSG00000184277 133 0 0 80 41 33.8843 OR4M2 0 genome.wustl.edu 37 15 22369163 22369163 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 22369163 22369163 G T SNP OR4M2 ENST00000332663 human ensembl 74_37 +1 putative missense c.588 p.E196D 0.686 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4M2 HGNC ENSG00000182974 154 1 0.645161 91 58 38.9262 WHAMMP3 0 genome.wustl.edu 37 15 23205193 23205193 + RNA SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 23205193 23205193 A G SNP WHAMMP3 ENST00000400153 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors WHAMMP3 HGNC ENSG00000187667 15 0 0 14 3 17.6471 MKRN3 0 genome.wustl.edu 37 15 23810931 23810931 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 23810931 23810931 T C SNP MKRN3 ENST00000314520 human ensembl 74_37 +1 known missense c.2 p.M1T 0.983 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN3 HGNC ENSG00000179455 18 0 0 10 6 37.5 SNORD115-43 0 genome.wustl.edu 37 15 25494417 25494417 + RNA SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 25494417 25494417 G A SNP SNORD115-43 ENST00000365503 human ensembl 74_37 +1 known rna NULL NULL 0.262 - - - no_errors SNORD115-43 HGNC ENSG00000202373 373 0 0 192 111 36.6337 HERC2 0 genome.wustl.edu 37 15 28482247 28482247 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 28482247 28482247 T C SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.3865 p.I1289V 1.000 superfamily_Cyt_B5-like_heme/steroid-bd 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 77 0 0 38 3 7.31707 APBA2 0 genome.wustl.edu 37 15 29406136 29406136 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 29406136 29406136 C T SNP APBA2 ENST00000558259 human ensembl 74_37 +1 known missense c.2095 p.R699C 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA2 HGNC ENSG00000034053 127 1 0.78125 32 30 48.3871 TJP1 0 genome.wustl.edu 37 15 30018641 30018641 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 30018641 30018641 G A SNP TJP1 ENST00000346128 human ensembl 74_37 -1 known missense c.2354 p.A785V 1.000 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pfam_PDZ,pfam_ZU5,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin-like,prints_ZonOcculS1,prints_ZonOcculdens - no_errors TJP1 HGNC ENSG00000104067 103 0 0 28 13 31.7073 FAN1 0 genome.wustl.edu 37 15 31214442 31214442 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 31214442 31214442 C T SNP FAN1 ENST00000362065 human ensembl 74_37 +1 known missense c.2057 p.A686V 1.000 NULL pfam_VRR_NUC,smart_Znf_Rad18_put - no_errors FAN1 HGNC ENSG00000198690 92 0 0 48 18 27.2727 RYR3 0 genome.wustl.edu 37 15 33941292 33941292 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 33941292 33941292 G T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.3998 p.R1333L 1.000 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 165 0 0 102 6 5.55556 RYR3 0 genome.wustl.edu 37 15 34040387 34040387 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 34040387 34040387 A G SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.8062 p.R2688G 1.000 pfam_Ryanodine_rcpt,superfamily_ARM-type_fold 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 72 0 0 41 26 38.806 GOLGA8A 0 genome.wustl.edu 37 15 34678912 34678912 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 34678912 34678912 G A SNP GOLGA8A ENST00000432566 human ensembl 74_37 -1 known missense c.289 p.R97C 0.998 NULL NULL - no_errors GOLGA8A HGNC ENSG00000175265 14 0 0 3 10 76.9231 C15orf52 0 genome.wustl.edu 37 15 40629609 40629609 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 40629609 40629609 G A SNP C15orf52 ENST00000559313 human ensembl 74_37 -1 known missense c.854 p.A285V 0.009 NULL NULL - no_errors C15orf52 HGNC ENSG00000188549 77 0 0 44 26 37.1429 RPAP1 0 genome.wustl.edu 37 15 41814328 41814328 + Nonsense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 41814328 41814328 G A SNP RPAP1 ENST00000304330 human ensembl 74_37 -1 known nonsense c.2863 p.Q955* 1.000 NULL pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold - no_errors RPAP1 HGNC ENSG00000103932 162 0 0 104 7 6.30631 SPTBN5 0 genome.wustl.edu 37 15 42167711 42167711 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 42167711 42167711 C T SNP SPTBN5 ENST00000320955 human ensembl 74_37 -1 known missense c.4232 p.R1411H 0.006 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 20 0 0 8 7 46.6667 CDAN1 0 genome.wustl.edu 37 15 43028229 43028229 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 43028229 43028229 C T SNP CDAN1 ENST00000356231 human ensembl 74_37 -1 known missense c.617 p.R206Q 1.000 NULL NULL - no_errors CDAN1 HGNC ENSG00000140326 73 0 0 44 20 31.25 TGM5 0 genome.wustl.edu 37 15 43552729 43552729 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 43552729 43552729 C T SNP TGM5 ENST00000220420 human ensembl 74_37 -1 known missense c.59 p.R20Q 0.000 pfam_Transglutaminase_N,superfamily_Ig_E-set pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM5 HGNC ENSG00000104055 194 0 0 79 43 35.2459 TP53BP1 0 genome.wustl.edu 37 15 43714075 43714075 + Nonsense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 43714075 43714075 G A SNP TP53BP1 ENST00000382044 human ensembl 74_37 -1 known nonsense c.4078 p.R1360* 1.000 NULL pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC ENSG00000067369 56 0 0 37 17 31.4815 TRIM69 0 genome.wustl.edu 37 15 45047120 45047120 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 45047120 45047120 A G SNP TRIM69 ENST00000329464 human ensembl 74_37 +1 known missense c.29 p.N10S 0.001 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors TRIM69 HGNC ENSG00000185880 159 0 0 88 37 29.6 DUOX1 0 genome.wustl.edu 37 15 45444669 45444669 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 45444669 45444669 G A SNP DUOX1 ENST00000321429 human ensembl 74_37 +1 known missense c.3379 p.V1127M 0.995 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 71 0 0 57 18 24 DTWD1 0 genome.wustl.edu 37 15 49935572 49935572 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 49935572 49935572 C T SNP DTWD1 ENST00000251250 human ensembl 74_37 +1 known missense c.712 p.R238C 1.000 pfam_DTW pfam_DTW - no_errors DTWD1 HGNC ENSG00000104047 39 0 0 20 9 31.0345 ATP8B4 0 genome.wustl.edu 37 15 50158588 50158588 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 50158588 50158588 T C SNP ATP8B4 ENST00000284509 human ensembl 74_37 -1 known missense c.3121 p.S1041G 1.000 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 89 0 0 46 26 36.1111 TRPM7 0 genome.wustl.edu 37 15 50901876 50901876 + Missense_Mutation SNP T T G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 50901876 50901876 T G SNP TRPM7 ENST00000313478 human ensembl 74_37 -1 known missense c.2482 p.N828H 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM7 HGNC ENSG00000092439 47 0 0 22 7 24.1379 MYO5A 0 genome.wustl.edu 37 15 52609257 52609257 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 52609257 52609257 T C SNP MYO5A ENST00000358212 human ensembl 74_37 -1 known silent c.5397 p.L1799 0.992 pfam_Dil_domain,superfamily_Skp1_comp_dimer,pfscan_Dilute pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC ENSG00000197535 106 0 0 74 4 5.12821 MYO5A 0 genome.wustl.edu 37 15 52699556 52699556 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 52699556 52699556 A G SNP MYO5A ENST00000358212 human ensembl 74_37 -1 known silent c.879 p.S293 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC ENSG00000197535 97 0 0 34 16 32 FOXB1 0 genome.wustl.edu 37 15 60297413 60297413 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 60297413 60297413 G A SNP FOXB1 ENST00000396057 human ensembl 74_37 +1 known missense c.251 p.G84D 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXB1 HGNC ENSG00000171956 128 0 0 85 16 15.8416 ANXA2 0 genome.wustl.edu 37 15 60639874 60639874 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 60639874 60639874 G A SNP ANXA2 ENST00000332680 human ensembl 74_37 -1 known silent c.1029 p.G343 0.151 pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinII,prints_AnnexinV - no_errors ANXA2 HGNC ENSG00000182718 57 0 0 33 5 13.1579 VPS13C 0 genome.wustl.edu 37 15 62261496 62261496 + Splice_Site SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 62261496 62261496 A G SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known splice_site c.2911+2 e28+2 1.000 - - - no_errors VPS13C HGNC ENSG00000129003 32 0 0 14 5 26.3158 VPS13C 0 genome.wustl.edu 37 15 62264932 62264932 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 62264932 62264932 A G SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known silent c.2649 p.D883 0.966 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 74 0 0 65 4 5.7971 TLN2 0 genome.wustl.edu 37 15 62939540 62939540 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 62939540 62939540 C T SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known missense c.31 p.R11C 1.000 NULL 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 121 0 0 96 11 10.2804 TLN2 0 genome.wustl.edu 37 15 63031561 63031561 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 63031561 63031561 G A SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known silent c.3702 p.T1234 0.620 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 66 0 0 47 18 27.6923 HERC1 0 genome.wustl.edu 37 15 63904727 63904727 + Nonsense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 63904727 63904727 C T SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known nonsense c.14123 p.W4708* 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 81 0 0 50 21 29.5775 ZNF609 0 genome.wustl.edu 37 15 64791864 64791864 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 64791864 64791864 A G SNP ZNF609 ENST00000326648 human ensembl 74_37 +1 known silent c.246 p.Q82 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF609 HGNC ENSG00000180357 136 0 0 116 38 24.6753 ANKDD1A 0 genome.wustl.edu 37 15 65242166 65242166 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 65242166 65242166 G A SNP ANKDD1A ENST00000380230 human ensembl 74_37 +1 known missense c.1456 p.V486M 0.967 pfam_Death_domain,superfamily_DEATH-like_dom,pfscan_Death_domain pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,prints_Ankyrin_rpt - no_errors ANKDD1A HGNC ENSG00000166839 170 0 0 130 9 6.47482 SNAPC5 0 genome.wustl.edu 37 15 66789957 66789957 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 66789957 66789957 G A SNP SNAPC5 ENST00000565465 human ensembl 74_37 -1 known missense c.113 p.A38V 0.000 NULL NULL - no_errors SNAPC5 HGNC ENSG00000174446 84 0 0 70 21 23.0769 IQCH 0 genome.wustl.edu 37 15 67553631 67553631 + Missense_Mutation SNP T T G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 67553631 67553631 T G SNP IQCH ENST00000335894 human ensembl 74_37 +1 known missense c.73 p.L25V 0.899 NULL superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors IQCH HGNC ENSG00000103599 83 0 0 41 4 8.88889 LARP6 0 genome.wustl.edu 37 15 71124946 71124946 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 71124946 71124946 G A SNP LARP6 ENST00000299213 human ensembl 74_37 -1 known silent c.921 p.D307 0.060 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd,prints_Lupus_La - no_errors LARP6 HGNC ENSG00000166173 189 0 0 132 12 8.33333 LRRC49 0 genome.wustl.edu 37 15 71256165 71256165 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 71256165 71256165 C T SNP LRRC49 ENST00000260382 human ensembl 74_37 +1 known missense c.815 p.S272L 0.976 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC49 HGNC ENSG00000137821 234 0 0 145 11 7.05128 THSD4 0 genome.wustl.edu 37 15 72057442 72057442 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 72057442 72057442 C T SNP THSD4 ENST00000261862 human ensembl 74_37 +1 known silent c.2673 p.D891 0.472 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,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 88 0 0 44 19 30.1587 NEO1 0 genome.wustl.edu 37 15 73470737 73470737 + Missense_Mutation SNP A A T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 73470737 73470737 A T SNP NEO1 ENST00000261908 human ensembl 74_37 +1 known missense c.1260 p.Q420H 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Neogenin_C,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 NEO1 HGNC ENSG00000067141 46 0 0 14 10 41.6667 NEO1 0 genome.wustl.edu 37 15 73570470 73570470 + Splice_Site SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 73570470 73570470 A G SNP NEO1 ENST00000261908 human ensembl 74_37 +1 known splice_site c.3194-2 e22-2 1.000 - - - no_errors NEO1 HGNC ENSG00000067141 112 0 0 47 12 20.339 ISLR2 0 genome.wustl.edu 37 15 74425134 74425134 + Silent SNP T T G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 74425134 74425134 T G SNP ISLR2 ENST00000361742 human ensembl 74_37 +1 known silent c.39 p.L13 0.146 NULL pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Ig-like_dom - no_errors ISLR2 HGNC ENSG00000167178 76 0 0 54 38 41.3043 SEMA7A 0 genome.wustl.edu 37 15 74703166 74703166 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 74703166 74703166 G A SNP SEMA7A ENST00000261918 human ensembl 74_37 -1 known silent c.1800 p.I600 0.996 pfscan_Ig-like_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA7A HGNC ENSG00000138623 93 0 0 48 45 48.3871 ULK3 0 genome.wustl.edu 37 15 75131045 75131045 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 75131045 75131045 G A SNP ULK3 ENST00000440863 human ensembl 74_37 -1 known silent c.1041 p.I347 0.996 pfam_MIT,smart_MIT pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIT,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_MIT,pfscan_Prot_kinase_dom - no_errors ULK3 HGNC ENSG00000140474 23 0 0 6 4 40 NRG4 0 genome.wustl.edu 37 15 76254214 76254214 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 76254214 76254214 G A SNP NRG4 ENST00000394907 human ensembl 74_37 -1 known missense c.206 p.A69V 0.000 NULL smart_EG-like_dom,pfscan_EG-like_dom - no_errors NRG4 HGNC ENSG00000169752 155 0 0 132 8 5.71429 CRABP1 0 genome.wustl.edu 37 15 78633490 78633490 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 78633490 78633490 T C SNP CRABP1 ENST00000299529 human ensembl 74_37 +1 known missense c.176 p.V59A 1.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors CRABP1 HGNC ENSG00000166426 27 0 0 13 3 18.75 ADAMTS7 0 genome.wustl.edu 37 15 79063576 79063576 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 79063576 79063576 C T SNP ADAMTS7 ENST00000388820 human ensembl 74_37 -1 known missense c.2446 p.D816N 0.000 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS7 HGNC ENSG00000136378 31 0 0 23 14 37.8378 CTSH 0 genome.wustl.edu 37 15 79224792 79224792 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 79224792 79224792 G A SNP CTSH ENST00000220166 human ensembl 74_37 -1 known silent c.414 p.C138 0.956 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSH HGNC ENSG00000103811 62 0 0 17 11 39.2857 RASGRF1 0 genome.wustl.edu 37 15 79341903 79341903 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 79341903 79341903 G A SNP RASGRF1 ENST00000419573 human ensembl 74_37 -1 known missense c.559 p.R187C 0.996 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF1 HGNC ENSG00000058335 60 0 0 22 17 43.5897 ARNT2 0 genome.wustl.edu 37 15 80762578 80762578 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 80762578 80762578 G A SNP ARNT2 ENST00000303329 human ensembl 74_37 +1 known missense c.214 p.E72K 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom,prints_Nuc_translocat,tigrfam_PAS - no_errors ARNT2 HGNC ENSG00000172379 31 0 0 18 17 48.5714 FAM154B 0 genome.wustl.edu 37 15 82575092 82575092 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 82575092 82575092 C T SNP FAM154B ENST00000339465 human ensembl 74_37 +1 known missense c.886 p.R296C 0.797 NULL NULL - no_errors FAM154B HGNC ENSG00000188659 90 0 0 35 25 41.6667 HDGFRP3 0 genome.wustl.edu 37 15 83826184 83826184 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 83826184 83826184 T C SNP HDGFRP3 ENST00000299633 human ensembl 74_37 -1 known missense c.442 p.K148E 1.000 NULL pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom - no_errors HDGFRP3 Uniprot_gn ENSG00000166503 44 0 0 25 17 40.4762 ADAMTSL3 0 genome.wustl.edu 37 15 84652067 84652067 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 84652067 84652067 G T SNP ADAMTSL3 ENST00000286744 human ensembl 74_37 +1 known missense c.3687 p.K1229N 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 165 0 0 71 54 43.2 NTRK3 0 genome.wustl.edu 37 15 88799238 88799238 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 88799238 88799238 G A SNP NTRK3 ENST00000360948 human ensembl 74_37 -1 known silent c.147 p.D49 1.000 pfam_LRR-contain_N,smart_LRR-contain_N pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NTRK3 HGNC ENSG00000140538 138 0 0 46 35 43.2099 ACAN 0 genome.wustl.edu 37 15 89417219 89417219 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 89417219 89417219 G A SNP ACAN ENST00000439576 human ensembl 74_37 +1 known missense c.7480 p.G2494R 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors ACAN HGNC ENSG00000157766 52 0 0 44 13 22.807 ANPEP 0 genome.wustl.edu 37 15 90334189 90334189 + Missense_Mutation SNP A A T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 90334189 90334189 A T SNP ANPEP ENST00000300060 human ensembl 74_37 -1 known missense c.2664 p.F888L 0.350 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ANPEP HGNC ENSG00000166825 73 0 0 61 7 10.2941 ENSG00000221309 0 genome.wustl.edu 37 15 90838293 90838293 + RNA SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 90838293 90838293 C T SNP ENSG00000221309 ENST00000408382 human ensembl 74_37 +1 novel rna NULL NULL 0.046 - - - no_errors AC091167.1 Clone_based_ensembl_gene ENSG00000221309 40 0 0 40 17 29.8246 IGF1R 0 genome.wustl.edu 37 15 99251014 99251014 + Silent SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 99251014 99251014 C A SNP IGF1R ENST00000268035 human ensembl 74_37 +1 known silent c.318 p.I106 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_EGF_rcpt_L 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 56 0 0 47 13 21.6667 TXNDC11 0 genome.wustl.edu 37 16 11773401 11773401 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 11773401 11773401 G A SNP TXNDC11 ENST00000356957 human ensembl 74_37 -1 known missense c.2608 p.R870W 0.991 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC11 HGNC ENSG00000153066 73 0 0 35 19 35.1852 SNX29 0 genome.wustl.edu 37 16 12371842 12371842 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 12371842 12371842 G A SNP SNX29 ENST00000306030 human ensembl 74_37 +1 known silent c.576 p.P192 0.565 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX29 HGNC ENSG00000048471 22 0 0 11 5 31.25 MYH11 0 genome.wustl.edu 37 16 15835670 15835670 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 15835670 15835670 G A SNP MYH11 ENST00000396324 human ensembl 74_37 -1 known missense c.2620 p.R874W 0.565 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH11 HGNC ENSG00000133392 211 0 0 125 70 35.8974 ABCC6 0 genome.wustl.edu 37 16 16263540 16263540 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 16263540 16263540 C T SNP ABCC6 ENST00000205557 human ensembl 74_37 -1 known silent c.2958 p.L986 0.984 superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc 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,tigrfam_Multidrug-R_assoc - no_errors ABCC6 HGNC ENSG00000091262 23 0 0 16 8 33.3333 TBL3 0 genome.wustl.edu 37 16 2024271 2024271 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 2024271 2024271 C T SNP TBL3 ENST00000568546 human ensembl 74_37 +1 known missense c.167 p.A56V 0.000 smart_WD40_repeat pfam_WD40_repeat,pfam_SSU_processome_Utp13,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL3 HGNC ENSG00000183751 143 0 0 87 26 23.0088 ZNF598 0 genome.wustl.edu 37 16 2050088 2050088 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 2050088 2050088 C T SNP ZNF598 ENST00000431526 human ensembl 74_37 -1 known missense c.1462 p.A488T 1.000 NULL superfamily_PAH,smart_Znf_C2H2-like,pfscan_Znf_RING - no_errors ZNF598 HGNC ENSG00000167962 32 0 0 28 5 15.1515 ZNF598 0 genome.wustl.edu 37 16 2052542 2052542 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 2052542 2052542 G A SNP ZNF598 ENST00000431526 human ensembl 74_37 -1 known silent c.657 p.D219 0.926 smart_Znf_C2H2-like superfamily_PAH,smart_Znf_C2H2-like,pfscan_Znf_RING - no_errors ZNF598 HGNC ENSG00000167962 102 0 0 41 37 47.4359 DNAH3 0 genome.wustl.edu 37 16 20976396 20976396 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 20976396 20976396 T C SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.8810 p.Q2937R 0.802 superfamily_Prefoldin pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 265 0 0 214 18 7.75862 TSC2 0 genome.wustl.edu 37 16 2110688 2110688 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 2110688 2110688 C T SNP TSC2 ENST00000219476 human ensembl 74_37 +1 known silent c.993 p.N331 0.827 pfam_Tuberin_N,superfamily_ARM-type_fold 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 171 0 0 108 37 25.5172 PKD1 0 genome.wustl.edu 37 16 2139858 2139858 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 2139858 2139858 C T SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known missense c.12782 p.G4261D 0.118 NULL pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 23 0 0 18 3 14.2857 PKD1 0 genome.wustl.edu 37 16 2161747 2161747 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 2161747 2161747 C T SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known missense c.3421 p.G1141S 0.912 pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 11 0 0 16 6 27.2727 POLR3E 0 genome.wustl.edu 37 16 22328529 22328529 + Splice_Site SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 22328529 22328529 T C SNP POLR3E ENST00000299853 human ensembl 74_37 +1 known splice_site c.865+2 e11+2 0.997 - - - no_errors POLR3E HGNC ENSG00000058600 87 0 0 37 30 44.7761 POLR3E 0 genome.wustl.edu 37 16 22335726 22335726 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 22335726 22335726 G A SNP POLR3E ENST00000299853 human ensembl 74_37 +1 known missense c.1120 p.V374M 0.989 pfam_RNA_pol_III_Rpc5 pfam_RNA_pol_III_Rpc5 - no_errors POLR3E HGNC ENSG00000058600 93 0 0 59 44 42.7184 CASKIN1 0 genome.wustl.edu 37 16 2239534 2239534 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 2239534 2239534 C A SNP CASKIN1 ENST00000343516 human ensembl 74_37 -1 known missense c.276 p.Q92H 1.000 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,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN1 HGNC ENSG00000167971 46 0 0 22 17 43.5897 HS3ST2 0 genome.wustl.edu 37 16 22926383 22926383 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 22926383 22926383 G A SNP HS3ST2 ENST00000261374 human ensembl 74_37 +1 known missense c.604 p.V202M 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST2 HGNC ENSG00000122254 198 0 0 136 43 24.0223 ATP6V0C 0 genome.wustl.edu 37 16 2569560 2569560 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 2569560 2569560 C T SNP ATP6V0C ENST00000330398 human ensembl 74_37 +1 known silent c.282 p.G94 0.004 pfam_ATPase_proteolipid_c_like_dom,superfamily_ATPase_proteolipid_c_like_dom,tigrfam_ATPase_proteolipid_su_C_euk pfam_ATPase_proteolipid_c_like_dom,superfamily_ATPase_proteolipid_c_like_dom,prints_ATPase_proteolipid_csu,tigrfam_ATPase_proteolipid_su_C_euk - no_errors ATP6V0C HGNC ENSG00000185883 38 0 0 18 4 18.1818 GTF3C1 0 genome.wustl.edu 37 16 27475894 27475894 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 27475894 27475894 G A SNP GTF3C1 ENST00000356183 human ensembl 74_37 -1 known silent c.5619 p.T1873 0.000 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 139 0 0 106 7 6.19469 GTF3C1 0 genome.wustl.edu 37 16 27500445 27500445 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 27500445 27500445 G A SNP GTF3C1 ENST00000356183 human ensembl 74_37 -1 known silent c.3348 p.A1116 0.900 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 141 0 0 78 53 40.458 KIAA0556 0 genome.wustl.edu 37 16 27629746 27629746 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 27629746 27629746 G T SNP KIAA0556 ENST00000261588 human ensembl 74_37 +1 known missense c.64 p.G22C 1.000 NULL superfamily_Thaumatin - no_errors KIAA0556 HGNC ENSG00000047578 77 0 0 46 5 9.80392 APOBR 0 genome.wustl.edu 37 16 28507727 28507727 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 28507727 28507727 A G SNP APOBR ENST00000564831 human ensembl 74_37 +1 known silent c.1365 p.A455 0.001 NULL NULL - no_errors APOBR HGNC ENSG00000184730 58 0 0 57 4 6.55738 SULT1A1 0 genome.wustl.edu 37 16 28620148 28620148 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 28620148 28620148 G A SNP SULT1A1 ENST00000314752 human ensembl 74_37 -1 known missense c.29 p.P10L 0.002 superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1A1 HGNC ENSG00000196502 155 1 0.641026 112 14 11.1111 ATXN2L 0 genome.wustl.edu 37 16 28846700 28846700 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 28846700 28846700 G A SNP ATXN2L ENST00000395547 human ensembl 74_37 +1 known missense c.2665 p.A889T 1.000 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2L HGNC ENSG00000168488 60 0 0 55 9 14.0625 RRN3P2 0 genome.wustl.edu 37 16 29110458 29110458 + RNA SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 29110458 29110458 T C SNP RRN3P2 ENST00000427965 human ensembl 74_37 +1 known rna NULL NULL 0.991 - - - no_errors RRN3P2 HGNC ENSG00000103472 77 0 0 25 5 16.6667 GDPD3 0 genome.wustl.edu 37 16 30124700 30124700 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 30124700 30124700 C T SNP GDPD3 ENST00000406256 human ensembl 74_37 -1 known missense c.100 p.A34T 0.000 NULL pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD3 HGNC ENSG00000102886 345 0 0 256 14 5.18519 KREMEN2 0 genome.wustl.edu 37 16 3014884 3014884 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 3014884 3014884 A G SNP KREMEN2 ENST00000303746 human ensembl 74_37 +1 known missense c.119 p.N40S 1.000 pirsf_Kremen,pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pirsf_Kremen,pfam_WSC_carb-bd,pfam_Kringle,pfam_CUB_dom,superfamily_Kringle-like,superfamily_CUB_dom,smart_Kringle,smart_WSC_carb-bd_subgr,smart_CUB_dom,pfscan_CUB_dom,pfscan_Kringle,pfscan_WSC_carb-bd - no_errors KREMEN2 HGNC ENSG00000131650 35 0 0 27 12 30.7692 PAQR4 0 genome.wustl.edu 37 16 3021678 3021678 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 3021678 3021678 G A SNP PAQR4 ENST00000318782 human ensembl 74_37 +1 known missense c.551 p.R184H 1.000 pfam_HlyIII-related pfam_HlyIII-related - no_errors PAQR4 HGNC ENSG00000162073 72 0 0 41 16 28.0702 CLDN6 0 genome.wustl.edu 37 16 3065512 3065512 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 3065512 3065512 A G SNP CLDN6 ENST00000328796 human ensembl 74_37 -1 known missense c.511 p.S171P 0.021 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin6 - no_errors CLDN6 HGNC ENSG00000184697 45 0 0 27 9 25 HSD3B7 0 genome.wustl.edu 37 16 30997840 30997840 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 30997840 30997840 A G SNP HSD3B7 ENST00000297679 human ensembl 74_37 +1 known missense c.419 p.H140R 1.000 pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_dTDP_dehydrorham_reduct pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Polysac_CapD-like,pfam_dTDP_dehydrorham_reduct,pfam_NmrA - no_errors HSD3B7 HGNC ENSG00000099377 71 0 0 59 11 15.7143 MMP25 0 genome.wustl.edu 37 16 3100442 3100442 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 3100442 3100442 G A SNP MMP25 ENST00000336577 human ensembl 74_37 +1 known missense c.556 p.D186N 1.000 pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP25 HGNC ENSG00000008516 78 0 0 44 22 33.3333 FUS 0 genome.wustl.edu 37 16 31196405 31196405 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 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 16 0 0 18 12 40 TRIM72 0 genome.wustl.edu 37 16 31236013 31236013 + Nonsense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 31236013 31236013 G A SNP TRIM72 ENST00000322122 human ensembl 74_37 +1 known nonsense c.1371 p.W457* 1.000 superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM72 HGNC ENSG00000177238 8 0 0 4 8 66.6667 ITGAD 0 genome.wustl.edu 37 16 31422077 31422077 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 31422077 31422077 C A SNP ITGAD ENST00000389202 human ensembl 74_37 +1 known missense c.1234 p.L412M 0.002 smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAD HGNC ENSG00000156886 96 0 0 41 32 43.8356 ARMC5 0 genome.wustl.edu 37 16 31476459 31476459 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 31476459 31476459 G A SNP ARMC5 ENST00000457010 human ensembl 74_37 +1 known silent c.2115 p.A705 0.000 NULL superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC5 HGNC ENSG00000140691 94 0 0 86 5 5.49451 ENSG00000261727 0 genome.wustl.edu 37 16 32095637 32095637 + RNA SNP G G C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 32095637 32095637 G C SNP ENSG00000261727 ENST00000566806 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-1166P10.6 Clone_based_vega_gene ENSG00000261727 29 0 0 41 10 19.6078 HERC2P4 0 genome.wustl.edu 37 16 32182218 32182218 + RNA SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 32182218 32182218 C T SNP HERC2P4 ENST00000564730 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HERC2P4 HGNC ENSG00000230267 79 0 0 50 23 31.5068 ZNF263 0 genome.wustl.edu 37 16 3339723 3339723 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 3339723 3339723 G A SNP ZNF263 ENST00000219069 human ensembl 74_37 +1 known missense c.1217 p.C406Y 0.937 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 ZNF263 HGNC ENSG00000006194 159 0 0 114 8 6.55738 NLRC3 0 genome.wustl.edu 37 16 3604310 3604310 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 3604310 3604310 C T SNP NLRC3 ENST00000448023 human ensembl 74_37 -1 known missense c.2341 p.V781I 0.020 smart_Leu-rich_rpt_RNase_inh_sub-typ superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRC3 HGNC ENSG00000167984 41 0 0 17 17 50 SLX4 0 genome.wustl.edu 37 16 3640169 3640169 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 3640169 3640169 G A SNP SLX4 ENST00000294008 human ensembl 74_37 -1 known missense c.3470 p.S1157L 0.998 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 113 0 0 66 39 37.1429 TRAP1 0 genome.wustl.edu 37 16 3725375 3725375 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 3725375 3725375 A G SNP TRAP1 ENST00000246957 human ensembl 74_37 -1 known missense c.838 p.F280L 1.000 superfamily_HATPase_ATP-bd,pirsf_Hsp90_fam,prints_Hsp90_N pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pirsf_Hsp90_fam,prints_Hsp90_N - no_errors TRAP1 HGNC ENSG00000126602 74 0 0 52 4 7.14286 DNAJA3 0 genome.wustl.edu 37 16 4504853 4504853 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 4504853 4504853 C T SNP DNAJA3 ENST00000262375 human ensembl 74_37 +1 known missense c.1381 p.R461C 0.993 NULL pfam_DnaJ_domain,pfam_DnaJ_C,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain - no_errors DNAJA3 HGNC ENSG00000103423 79 0 0 12 9 42.8571 SIAH1 0 genome.wustl.edu 37 16 48396331 48396331 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 48396331 48396331 A G SNP SIAH1 ENST00000356721 human ensembl 74_37 -1 known silent c.102 p.R34 0.994 NULL pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like,pfscan_Znf_RING,pfscan_Znf_SIAH - no_errors SIAH1 HGNC ENSG00000196470 64 0 0 39 11 22 PPL 0 genome.wustl.edu 37 16 4934378 4934378 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 4934378 4934378 C T SNP PPL ENST00000345988 human ensembl 74_37 -1 known silent c.4278 p.R1426 1.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 134 0 0 106 56 34.5679 PPL 0 genome.wustl.edu 37 16 4935262 4935262 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 4935262 4935262 C T SNP PPL ENST00000345988 human ensembl 74_37 -1 known missense c.3394 p.D1132N 0.011 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 90 0 0 65 4 5.7971 ALG1 0 genome.wustl.edu 37 16 5125455 5125455 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 5125455 5125455 G A SNP ALG1 ENST00000262374 human ensembl 74_37 +1 known missense c.457 p.V153I 0.694 NULL pfam_Glyco_trans_1 - no_errors ALG1 HGNC ENSG00000033011 139 0 0 71 40 36.036 LPCAT2 0 genome.wustl.edu 37 16 55613034 55613034 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 55613034 55613034 A G SNP LPCAT2 ENST00000262134 human ensembl 74_37 +1 known missense c.1328 p.D443G 1.000 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors LPCAT2 HGNC ENSG00000087253 143 0 0 93 8 7.92079 SLC6A2 0 genome.wustl.edu 37 16 55690802 55690802 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 55690802 55690802 C A SNP SLC6A2 ENST00000219833 human ensembl 74_37 +1 known missense c.196 p.L66M 1.000 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_noradrenaline - no_errors SLC6A2 HGNC ENSG00000103546 127 0 0 91 54 37.2414 BBS2 0 genome.wustl.edu 37 16 56553706 56553706 + Silent SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 56553706 56553706 G T SNP BBS2 ENST00000245157 human ensembl 74_37 -1 known silent c.69 p.R23 0.996 superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_2_prot superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_2_prot - no_errors BBS2 HGNC ENSG00000125124 50 0 0 30 8 21.0526 MT1B 0 genome.wustl.edu 37 16 56686928 56686928 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 56686928 56686928 A G SNP MT1B ENST00000334346 human ensembl 74_37 +1 known missense c.137 p.Q46R 1.000 pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert - no_errors MT1B HGNC ENSG00000169688 193 0 0 77 60 43.7956 KIFC3 0 genome.wustl.edu 37 16 57800794 57800794 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 57800794 57800794 C A SNP KIFC3 ENST00000379655 human ensembl 74_37 -1 known missense c.1322 p.R441L 1.000 superfamily_P-loop_NTPase 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 72 0 0 34 21 38.1818 PRSS54 0 genome.wustl.edu 37 16 58314246 58314246 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 58314246 58314246 T C SNP PRSS54 ENST00000219301 human ensembl 74_37 -1 known missense c.1070 p.D357G 1.000 NULL pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 - no_errors PRSS54 HGNC ENSG00000103023 93 0 0 68 7 9.33333 C16orf70 0 genome.wustl.edu 37 16 67179283 67179283 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 67179283 67179283 C T SNP C16orf70 ENST00000219139 human ensembl 74_37 +1 known silent c.1011 p.N337 0.996 pfam_UPF0183 pfam_UPF0183 - no_errors C16orf70 HGNC ENSG00000125149 33 0 0 10 16 61.5385 HSF4 0 genome.wustl.edu 37 16 67199736 67199736 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 67199736 67199736 G A SNP HSF4 ENST00000264009 human ensembl 74_37 +1 known missense c.347 p.R116H 1.000 pfam_HSF_DNA-bd,smart_HSF_DNA-bd pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd - no_errors HSF4 HGNC ENSG00000102878 43 0 0 32 17 34.6939 ELMO3 0 genome.wustl.edu 37 16 67233097 67233097 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 67233097 67233097 C T SNP ELMO3 ENST00000393997 human ensembl 74_37 +1 known silent c.27 p.R9 0.002 NULL pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO3 HGNC ENSG00000102890 28 0 0 17 13 43.3333 SLC9A5 0 genome.wustl.edu 37 16 67290433 67290433 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 67290433 67290433 C T SNP SLC9A5 ENST00000299798 human ensembl 74_37 +1 known missense c.973 p.R325C 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A5 HGNC ENSG00000135740 54 0 0 31 24 43.6364 WFIKKN1 0 genome.wustl.edu 37 16 682653 682653 + Silent SNP C C G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 682653 682653 C G SNP WFIKKN1 ENST00000319070 human ensembl 74_37 +1 known silent c.243 p.P81 0.005 NULL pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Ig_V-set,pfam_WAP-type_4-diS_core,pfam_Kazal_dom,pfam_Immunoglobulin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Prot_inh_Kunz-m - no_errors WFIKKN1 HGNC ENSG00000127578 19 0 0 10 10 50 NFAT5 0 genome.wustl.edu 37 16 69726329 69726329 + Silent SNP A A C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 69726329 69726329 A C SNP NFAT5 ENST00000432919 human ensembl 74_37 +1 known silent c.2601 p.T867 0.979 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFAT5 HGNC ENSG00000102908 152 0 0 53 33 38.3721 SF3B3 0 genome.wustl.edu 37 16 70563046 70563046 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 70563046 70563046 G A SNP SF3B3 ENST00000302516 human ensembl 74_37 +1 known missense c.341 p.R114H 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom - no_errors SF3B3 HGNC ENSG00000189091 108 0 0 56 12 17.6471 SF3B3 0 genome.wustl.edu 37 16 70599269 70599269 + Splice_Site SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 70599269 70599269 A G SNP SF3B3 ENST00000302516 human ensembl 74_37 +1 known splice_site c.2670-2 e19-2 1.000 - - - no_errors SF3B3 HGNC ENSG00000189091 152 0 0 121 28 18.7919 HYDIN 0 genome.wustl.edu 37 16 71019097 71019097 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 71019097 71019097 C T SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative silent c.4323 p.L1441 0.998 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 38 0 0 15 10 40 RHBDL1 0 genome.wustl.edu 37 16 727109 727109 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 727109 727109 A G SNP RHBDL1 ENST00000219551 human ensembl 74_37 +1 known missense c.760 p.M254V 1.000 pfam_Peptidase_S54_rhomboid_dom,pirsf_Peptidase_S54_rhomboid_met pfam_Peptidase_S54_rhomboid_dom,pirsf_Peptidase_S54_rhomboid_met - no_errors RHBDL1 HGNC ENSG00000103269 67 0 0 46 5 9.80392 CHST6 0 genome.wustl.edu 37 16 75512546 75512546 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 75512546 75512546 C T SNP CHST6 ENST00000332272 human ensembl 74_37 -1 known missense c.1181 p.R394Q 0.000 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST6 HGNC ENSG00000183196 108 0 0 53 33 38.3721 RBFOX1 0 genome.wustl.edu 37 16 7568246 7568246 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 7568246 7568246 C T SNP RBFOX1 ENST00000547372 human ensembl 74_37 +1 known missense c.254 p.T85M 1.000 pirsf_RNA-bd_Fox-1 pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX1 HGNC ENSG00000078328 227 1 0.438596 195 11 5.33981 CDYL2 0 genome.wustl.edu 37 16 80654800 80654800 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 80654800 80654800 G A SNP CDYL2 ENST00000570137 human ensembl 74_37 -1 known silent c.867 p.N289 0.815 pfam_Crotonase_core_superfam pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL2 HGNC ENSG00000166446 25 0 0 20 6 23.0769 CDH13 0 genome.wustl.edu 37 16 83711897 83711897 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 83711897 83711897 G A SNP CDH13 ENST00000566620 human ensembl 74_37 +1 known missense c.1369 p.G457S 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH13 HGNC ENSG00000140945 92 0 0 57 19 25 TAF1C 0 genome.wustl.edu 37 16 84213641 84213641 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 84213641 84213641 G T SNP TAF1C ENST00000378541 human ensembl 74_37 -1 known missense c.1610 p.P537H 0.713 NULL superfamily_WD40_repeat_dom - no_errors TAF1C HGNC ENSG00000103168 49 0 0 22 12 35.2941 KLHL36 0 genome.wustl.edu 37 16 84690728 84690728 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 84690728 84690728 C T SNP KLHL36 ENST00000564996 human ensembl 74_37 +1 known silent c.315 p.Y105 0.043 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL36 HGNC ENSG00000135686 83 0 0 46 31 40.2597 IRF8 0 genome.wustl.edu 37 16 85953745 85953745 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 85953745 85953745 G A SNP IRF8 ENST00000268638 human ensembl 74_37 +1 known missense c.1019 p.R340Q 0.998 pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF8 HGNC ENSG00000140968 52 0 0 33 55 62.5 JPH3 0 genome.wustl.edu 37 16 87678349 87678349 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 87678349 87678349 G T SNP JPH3 ENST00000284262 human ensembl 74_37 +1 known missense c.868 p.G290C 1.000 pirsf_Junctophilin,pfam_MORN,smart_MORN pirsf_Junctophilin,pfam_MORN,smart_MORN - no_errors JPH3 HGNC ENSG00000154118 89 0 0 89 6 6.31579 SNAI3 0 genome.wustl.edu 37 16 88744962 88744962 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 88744962 88744962 G A SNP SNAI3 ENST00000332281 human ensembl 74_37 -1 known missense c.773 p.T258M 0.999 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI3 HGNC ENSG00000185669 56 0 0 28 17 37.7778 SPG7 0 genome.wustl.edu 37 16 89598458 89598458 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 89598458 89598458 C T SNP SPG7 ENST00000268704 human ensembl 74_37 +1 known silent c.1134 p.F378 0.995 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH - no_errors SPG7 HGNC ENSG00000197912 65 0 0 35 15 30 SPIRE2 0 genome.wustl.edu 37 16 89936599 89936599 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 89936599 89936599 C T SNP SPIRE2 ENST00000378247 human ensembl 74_37 +1 known silent c.2064 p.D688 0.627 superfamily_Znf_FYVE_PHD superfamily_Znf_FYVE_PHD,smart_KIND - no_errors SPIRE2 HGNC ENSG00000204991 18 0 0 12 6 33.3333 PRDM7 0 genome.wustl.edu 37 16 90127015 90127015 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 90127015 90127015 G A SNP PRDM7 ENST00000449207 human ensembl 74_37 -1 known missense c.967 p.R323W 0.740 pfscan_SET_dom pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_SET_dom,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM7 HGNC ENSG00000126856 98 0 0 51 27 34.6154 GRIN2A 0 genome.wustl.edu 37 16 9857724 9857724 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 9857724 9857724 C T SNP GRIN2A ENST00000330684 human ensembl 74_37 -1 known missense c.3677 p.G1226D 1.000 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 224 0 0 141 45 24.1935 GRIN2A 0 genome.wustl.edu 37 16 9862852 9862852 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 9862852 9862852 C A SNP GRIN2A ENST00000330684 human ensembl 74_37 -1 known missense c.2451 p.M817I 1.000 pfam_Iontro_glu_rcpt,prints_NMDA_rcpt 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 92 0 0 54 29 34.9398 MYH4 0 genome.wustl.edu 37 17 10361045 10361045 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 10361045 10361045 G T SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known missense c.1589 p.P530H 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 87 0 0 51 19 27.1429 TVP23C 0 genome.wustl.edu 37 17 15441469 15441469 + Splice_Site SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 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 99 0 0 49 31 38.75 SERPINF2 0 genome.wustl.edu 37 17 1657565 1657565 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 1657565 1657565 T C SNP SERPINF2 ENST00000324015 human ensembl 74_37 +1 known missense c.1213 p.S405P 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINF2 HGNC ENSG00000167711 218 1 0.456621 118 9 7.08661 PEMT 0 genome.wustl.edu 37 17 17415878 17415878 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 17415878 17415878 G A SNP PEMT ENST00000255389 human ensembl 74_37 -1 known silent c.411 p.G137 0.578 pfam_Phopholipid_MeTrfase,pirsf_PEMT/MFAP pfam_Phopholipid_MeTrfase,pirsf_PEMT/MFAP - no_errors PEMT HGNC ENSG00000133027 30 0 0 31 9 22.5 MYO15A 0 genome.wustl.edu 37 17 18058637 18058637 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 18058637 18058637 G T SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known missense c.8350 p.G2784C 1.000 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 73 0 0 55 18 24.6575 LGALS9C 0 genome.wustl.edu 37 17 18389303 18389303 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 18389303 18389303 A G SNP LGALS9C ENST00000328114 human ensembl 74_37 +1 known missense c.187 p.N63D 1.000 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS9C HGNC ENSG00000171916 49 0 0 24 20 45.4545 FBXW10 0 genome.wustl.edu 37 17 18651270 18651270 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 18651270 18651270 C T SNP FBXW10 ENST00000308799 human ensembl 74_37 +1 known silent c.522 p.I174 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW10 HGNC ENSG00000171931 66 0 0 29 12 29.2683 FBXW10 0 genome.wustl.edu 37 17 18668078 18668078 + Missense_Mutation SNP T T G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 18668078 18668078 T G SNP FBXW10 ENST00000308799 human ensembl 74_37 +1 known missense c.1544 p.V515G 0.799 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW10 HGNC ENSG00000171931 63 0 0 44 4 8.33333 SLC5A10 0 genome.wustl.edu 37 17 18922781 18922781 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 18922781 18922781 C T SNP SLC5A10 ENST00000395647 human ensembl 74_37 +1 known silent c.1335 p.P445 0.972 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 SLC5A10 HGNC ENSG00000154025 34 0 0 14 12 46.1538 KCNJ12 0 genome.wustl.edu 37 17 21318708 21318708 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 21318708 21318708 C T SNP KCNJ12 ENST00000331718 human ensembl 74_37 +1 known silent c.54 p.D18 1.000 pfam_K_chnl_inward-rec_Kir_N 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 93 0 0 68 6 8.10811 KCNJ12 0 genome.wustl.edu 37 17 21319869 21319869 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 21319869 21319869 C T SNP KCNJ12 ENST00000331718 human ensembl 74_37 +1 known silent c.1215 p.S405 1.000 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 71 0 0 63 8 11.2676 VTN 0 genome.wustl.edu 37 17 26697215 26697215 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 26697215 26697215 G T SNP VTN ENST00000226218 human ensembl 74_37 -1 known missense c.10 p.L4M 0.000 NULL pfam_Hemopexin-like_repeat,pfam_Somatomedin_B_dom,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors VTN HGNC ENSG00000109072 91 0 0 48 26 35.1351 SUPT6H 0 genome.wustl.edu 37 17 27005857 27005857 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 27005857 27005857 C T SNP SUPT6H ENST00000314616 human ensembl 74_37 +1 known missense c.1225 p.R409C 1.000 pirsf_TF_Spt6 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 124 0 0 76 21 21.6495 FLOT2 0 genome.wustl.edu 37 17 27211248 27211248 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 27211248 27211248 C T SNP FLOT2 ENST00000394908 human ensembl 74_37 -1 known missense c.217 p.A73T 1.000 pfam_Band_7 pfam_Band_7,smart_Band_7 - no_errors FLOT2 HGNC ENSG00000132589 125 0 0 100 7 6.54206 ANKRD13B 0 genome.wustl.edu 37 17 27939969 27939969 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 27939969 27939969 G A SNP ANKRD13B ENST00000394859 human ensembl 74_37 +1 known missense c.1640 p.R547H 0.998 NULL 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 ANKRD13B HGNC ENSG00000198720 24 0 0 24 10 29.4118 BLMH 0 genome.wustl.edu 37 17 28593903 28593903 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 28593903 28593903 C A SNP BLMH ENST00000261714 human ensembl 74_37 -1 known missense c.1216 p.G406C 1.000 pfam_Peptidase_C1B,pirsf_Peptidase_C1B pfam_Peptidase_C1B,pirsf_Peptidase_C1B - no_errors BLMH HGNC ENSG00000108578 67 0 0 20 16 44.4444 CPD 0 genome.wustl.edu 37 17 28791794 28791794 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 28791794 28791794 G T SNP CPD ENST00000225719 human ensembl 74_37 +1 known missense c.4105 p.D1369Y 1.000 NULL pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPD HGNC ENSG00000108582 145 1 0.684932 55 45 45 TEFM 0 genome.wustl.edu 37 17 29233199 29233199 + Silent SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 29233199 29233199 G T SNP TEFM ENST00000581216 human ensembl 74_37 -1 known silent c.18 p.L6 0.064 NULL superfamily_RNaseH-like_dom - no_errors TEFM HGNC ENSG00000172171 121 0 0 80 33 29.2035 RAP1GAP2 0 genome.wustl.edu 37 17 2923872 2923872 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 2923872 2923872 C T SNP RAP1GAP2 ENST00000254695 human ensembl 74_37 +1 known silent c.1734 p.G578 0.887 NULL pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom - no_errors RAP1GAP2 HGNC ENSG00000132359 49 0 0 17 13 43.3333 NF1 0 genome.wustl.edu 37 17 29497003 29497003 + Nonsense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 29497003 29497003 C T SNP NF1 ENST00000358273 human ensembl 74_37 +1 known nonsense c.574 p.R192* 1.000 NULL 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 55 0 0 16 10 38.4615 NF1 0 genome.wustl.edu 37 17 29556375 29556375 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 29556375 29556375 G A SNP NF1 ENST00000358273 human ensembl 74_37 +1 known silent c.2742 p.R914 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 158 1 0.628931 101 8 7.33945 AP2B1 0 genome.wustl.edu 37 17 33998862 33998862 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 33998862 33998862 G A SNP AP2B1 ENST00000312678 human ensembl 74_37 +1 known silent c.2121 p.L707 1.000 pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4 - no_errors AP2B1 HGNC ENSG00000006125 162 0 0 62 40 39.2157 TAF15 0 genome.wustl.edu 37 17 34173933 34173933 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 34173933 34173933 G A SNP TAF15 ENST00000588240 human ensembl 74_37 +1 known missense c.1763 p.R588H 1.000 NULL pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors TAF15 HGNC ENSG00000172660 64 0 0 33 12 26.6667 GSG2 0 genome.wustl.edu 37 17 3627639 3627639 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 3627639 3627639 C T SNP GSG2 ENST00000325418 human ensembl 74_37 +1 known missense c.410 p.P137L 0.015 NULL pfam_DUF3635,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors GSG2 HGNC ENSG00000177602 19 0 0 18 10 35.7143 PGAP3 0 genome.wustl.edu 37 17 37830251 37830251 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 37830251 37830251 G A SNP PGAP3 ENST00000300658 human ensembl 74_37 -1 known silent c.552 p.C184 0.997 pfam_Per1 pfam_Per1 - no_errors PGAP3 HGNC ENSG00000161395 62 0 0 33 14 29.7872 IKZF3 0 genome.wustl.edu 37 17 37947731 37947731 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 37947731 37947731 T C SNP IKZF3 ENST00000346872 human ensembl 74_37 -1 known missense c.530 p.H177R 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF3 HGNC ENSG00000161405 199 0 0 110 13 10.5691 THRA 0 genome.wustl.edu 37 17 38249548 38249548 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 38249548 38249548 C T SNP THRA ENST00000264637 human ensembl 74_37 +1 known silent c.1386 p.D462 1.000 NULL 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_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors THRA HGNC ENSG00000126351 72 0 0 31 25 44.6429 RARA 0 genome.wustl.edu 37 17 38499018 38499018 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 38499018 38499018 A G SNP RARA ENST00000394081 human ensembl 74_37 +1 known missense c.62 p.Y21C 1.000 NULL 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_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARA HGNC ENSG00000131759 235 0 0 168 16 8.69565 KRT34 0 genome.wustl.edu 37 17 39535728 39535728 + Silent SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 39535728 39535728 G T SNP KRT34 ENST00000394001 human ensembl 74_37 -1 known silent c.879 p.T293 0.005 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT34 HGNC ENSG00000131737 132 0 0 101 40 28.3688 LEPREL4 0 genome.wustl.edu 37 17 39967219 39967219 + Missense_Mutation SNP T T G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 39967219 39967219 T G SNP LEPREL4 ENST00000355468 human ensembl 74_37 -1 known missense c.683 p.E228A 1.000 NULL NULL - no_errors LEPREL4 HGNC ENSG00000141696 47 0 0 43 3 6.52174 CNTNAP1 0 genome.wustl.edu 37 17 40842128 40842128 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 40842128 40842128 G T SNP CNTNAP1 ENST00000264638 human ensembl 74_37 +1 known missense c.1758 p.E586D 0.969 superfamily_Fibrinogen_a/b/g_C_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC ENSG00000108797 237 0 0 111 84 43.0769 SLC4A1 0 genome.wustl.edu 37 17 42328569 42328569 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 42328569 42328569 G A SNP SLC4A1 ENST00000262418 human ensembl 74_37 -1 known silent c.2613 p.R871 0.844 tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_1,tigrfam_HCO3_transpt_euk - no_errors SLC4A1 HGNC ENSG00000004939 27 0 0 14 12 46.1538 SLC25A39 0 genome.wustl.edu 37 17 42399085 42399085 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 42399085 42399085 G A SNP SLC25A39 ENST00000377095 human ensembl 74_37 -1 known silent c.375 p.S125 0.835 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 SLC25A39 HGNC ENSG00000013306 68 0 0 37 16 30.1887 ARHGAP27 0 genome.wustl.edu 37 17 43474298 43474298 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 43474298 43474298 G A SNP ARHGAP27 ENST00000428638 human ensembl 74_37 -1 known silent c.1935 p.D645 0.015 NULL pfam_RhoGAP_dom,pfam_WW_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP27 HGNC ENSG00000159314 100 0 0 65 4 5.7971 SPPL2C 0 genome.wustl.edu 37 17 43922605 43922605 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 43922605 43922605 G T SNP SPPL2C ENST00000329196 human ensembl 74_37 +1 known missense c.333 p.Q111H 0.726 pfam_Protease-assoc_domain pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Preselin/SPP - no_errors SPPL2C HGNC ENSG00000185294 73 0 0 44 20 31.25 MYBBP1A 0 genome.wustl.edu 37 17 4458481 4458481 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 4458481 4458481 G T SNP MYBBP1A ENST00000381556 human ensembl 74_37 -1 known missense c.139 p.Q47K 1.000 superfamily_ARM-type_fold pfam_DNA_pol_V,superfamily_ARM-type_fold - no_errors MYBBP1A HGNC ENSG00000132382 17 0 0 20 2 9.09091 ALOX15 0 genome.wustl.edu 37 17 4536710 4536710 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 4536710 4536710 T C SNP ALOX15 ENST00000545513 human ensembl 74_37 -1 known missense c.1313 p.Q438R 0.993 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX15 HGNC ENSG00000161905 154 0 0 95 52 35.3741 EFCAB13 0 genome.wustl.edu 37 17 45517988 45517988 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 45517988 45517988 A G SNP EFCAB13 ENST00000331493 human ensembl 74_37 +1 known missense c.2830 p.M944V 0.024 NULL NULL - no_errors EFCAB13 HGNC ENSG00000178852 74 0 0 65 5 7.14286 KPNB1 0 genome.wustl.edu 37 17 45734239 45734239 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 45734239 45734239 T C SNP KPNB1 ENST00000290158 human ensembl 74_37 +1 known missense c.296 p.L99S 1.000 pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N pfam_HEAT,pfam_Importin-beta_N,pfam_Armadillo,superfamily_ARM-type_fold,smart_Importin-beta_N,smart_Armadillo,pfscan_HEAT_type_2,pfscan_Importin-beta_N - no_errors KPNB1 HGNC ENSG00000108424 80 0 0 49 20 28.9855 HOXB1 0 genome.wustl.edu 37 17 46608177 46608177 + Silent SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 46608177 46608177 G T SNP HOXB1 ENST00000239174 human ensembl 74_37 -1 known silent c.90 p.S30 0.995 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB1 HGNC ENSG00000120094 176 0 0 100 20 16.6667 HOXB2 0 genome.wustl.edu 37 17 46620969 46620969 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 46620969 46620969 C T SNP HOXB2 ENST00000330070 human ensembl 74_37 -1 known missense c.532 p.A178T 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB2 HGNC ENSG00000173917 128 0 0 91 19 17.2727 HOXB7 0 genome.wustl.edu 37 17 46685362 46685362 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 46685362 46685362 G A SNP HOXB7 ENST00000239165 human ensembl 74_37 -1 known missense c.496 p.R166W 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXB7 HGNC ENSG00000260027 176 0 0 153 9 5.55556 ACSF2 0 genome.wustl.edu 37 17 48551125 48551125 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 48551125 48551125 C T SNP ACSF2 ENST00000300441 human ensembl 74_37 +1 known silent c.1575 p.L525 0.707 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSF2 HGNC ENSG00000167107 151 1 0.657895 95 53 35.8108 WFIKKN2 0 genome.wustl.edu 37 17 48917398 48917398 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 48917398 48917398 G A SNP WFIKKN2 ENST00000311378 human ensembl 74_37 +1 known missense c.749 p.R250Q 0.244 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Netrin_module_non-TIMP,pfam_WAP-type_4-diS_core,pfam_Kazal_dom,pfam_Ig_V-set,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Prot_inh_Kunz-m - no_errors WFIKKN2 HGNC ENSG00000173714 82 0 0 68 14 17.0732 PCTP 0 genome.wustl.edu 37 17 53851118 53851118 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 53851118 53851118 A G SNP PCTP ENST00000268896 human ensembl 74_37 +1 known missense c.373 p.M125V 0.000 pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom - no_errors PCTP HGNC ENSG00000141179 41 0 0 36 10 21.7391 TRIM25 0 genome.wustl.edu 37 17 54969106 54969106 + Nonsense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 54969106 54969106 C T SNP TRIM25 ENST00000316881 human ensembl 74_37 -1 known nonsense c.1848 p.W616* 1.000 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_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM25 HGNC ENSG00000121060 45 0 0 35 9 20.4545 EPX 0 genome.wustl.edu 37 17 56272434 56272434 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 56272434 56272434 T C SNP EPX ENST00000225371 human ensembl 74_37 +1 known missense c.704 p.L235P 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors EPX HGNC ENSG00000121053 81 0 0 54 39 41.9355 BZRAP1 0 genome.wustl.edu 37 17 56389308 56389308 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 56389308 56389308 G A SNP BZRAP1 ENST00000355701 human ensembl 74_37 -1 known silent c.2874 p.G958 0.993 pfscan_Fibronectin_type3 pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain - no_errors BZRAP1 HGNC ENSG00000005379 49 0 0 35 4 10.2564 USP32 0 genome.wustl.edu 37 17 58270288 58270288 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 58270288 58270288 G A SNP USP32 ENST00000300896 human ensembl 74_37 -1 known silent c.3438 p.D1146 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_EF_hand_dom,smart_Pept_C19_DUSP,pfscan_EF_hand_dom,pfscan_Peptidase_C19/C67,prints_Recoverin - no_errors USP32 HGNC ENSG00000170832 51 0 0 15 12 44.4444 MED13 0 genome.wustl.edu 37 17 60032892 60032892 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 60032892 60032892 G A SNP MED13 ENST00000397786 human ensembl 74_37 -1 known missense c.5819 p.T1940M 1.000 pfam_Mediator_Med13 pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 112 0 0 74 4 5.12821 ENSG00000263887 0 genome.wustl.edu 37 17 60369283 60369283 + RNA SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 60369283 60369283 C T SNP ENSG00000263887 ENST00000602493 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-51L5.5 Clone_based_vega_gene ENSG00000263887 64 0 0 28 19 40.4255 TANC2 0 genome.wustl.edu 37 17 61497839 61497839 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 61497839 61497839 G T SNP TANC2 ENST00000424789 human ensembl 74_37 +1 known missense c.4496 p.R1499M 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC ENSG00000170921 60 0 0 54 4 6.89655 ACE 0 genome.wustl.edu 37 17 61559016 61559016 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 61559016 61559016 G A SNP ACE ENST00000290866 human ensembl 74_37 +1 known silent c.1035 p.G345 0.154 pfam_Peptidase_M2 pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE HGNC ENSG00000159640 84 0 0 46 35 43.2099 DDX42 0 genome.wustl.edu 37 17 61895733 61895733 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 61895733 61895733 G A SNP DDX42 ENST00000389924 human ensembl 74_37 +1 known missense c.2792 p.R931H 1.000 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 DDX42 HGNC ENSG00000198231 78 0 0 47 34 41.9753 SCN4A 0 genome.wustl.edu 37 17 62022372 62022372 + Silent SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 62022372 62022372 G T SNP SCN4A ENST00000435607 human ensembl 74_37 -1 known silent c.3769 p.R1257 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 55 0 0 26 10 27.7778 CACNG1 0 genome.wustl.edu 37 17 65040806 65040806 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 65040806 65040806 C T SNP CACNG1 ENST00000226021 human ensembl 74_37 +1 known silent c.30 p.R10 0.031 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g1su,prints_VDCC_gsu - no_errors CACNG1 HGNC ENSG00000108878 108 0 0 65 37 36.2745 HELZ 0 genome.wustl.edu 37 17 65190146 65190146 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 65190146 65190146 C T SNP HELZ ENST00000358691 human ensembl 74_37 -1 known missense c.494 p.G165D 1.000 NULL pfam_Znf_CCCH,superfamily_P-loop_NTPase,smart_Znf_CCCH - no_errors HELZ HGNC ENSG00000198265 39 0 0 11 9 45 XAF1 0 genome.wustl.edu 37 17 6659555 6659555 + RNA SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 6659555 6659555 T C SNP XAF1 ENST00000575267 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors XAF1 HGNC ENSG00000132530 8 0 0 9 9 50 ABCA8 0 genome.wustl.edu 37 17 66871434 66871434 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 66871434 66871434 A G SNP ABCA8 ENST00000430352 human ensembl 74_37 -1 known missense c.4598 p.L1533P 0.998 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA8 HGNC ENSG00000141338 95 0 0 58 10 14.7059 ABCA9 0 genome.wustl.edu 37 17 67045534 67045534 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 67045534 67045534 A G SNP ABCA9 ENST00000340001 human ensembl 74_37 -1 known missense c.194 p.L65P 0.998 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA9 HGNC ENSG00000154258 86 0 0 64 4 5.88235 ALOX12 0 genome.wustl.edu 37 17 6913275 6913275 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 6913275 6913275 C T SNP ALOX12 ENST00000251535 human ensembl 74_37 +1 known silent c.1642 p.L548 1.000 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX12 HGNC ENSG00000108839 65 0 0 39 21 35 SLC16A13 0 genome.wustl.edu 37 17 6941568 6941568 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 6941568 6941568 C T SNP SLC16A13 ENST00000308027 human ensembl 74_37 +1 known silent c.441 p.G147 0.979 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Atg22-like,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A13 HGNC ENSG00000174327 98 0 0 82 5 5.74713 ACADVL 0 genome.wustl.edu 37 17 7125995 7125995 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 7125995 7125995 T C SNP ACADVL ENST00000356839 human ensembl 74_37 +1 known silent c.888 p.P296 0.097 superfamily_AcylCoA_DH/oxidase_NM_dom pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACADVL HGNC ENSG00000072778 19 0 0 15 5 25 DNAI2 0 genome.wustl.edu 37 17 72306204 72306204 + Missense_Mutation SNP C C G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 72306204 72306204 C G SNP DNAI2 ENST00000311014 human ensembl 74_37 +1 known missense c.1396 p.L466V 0.015 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DNAI2 HGNC ENSG00000171595 96 0 0 52 30 36.5854 FDXR 0 genome.wustl.edu 37 17 72862943 72862943 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 72862943 72862943 A G SNP FDXR ENST00000581530 human ensembl 74_37 -1 known missense c.233 p.V78A 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors FDXR HGNC ENSG00000161513 57 0 0 34 9 20.9302 OTOP2 0 genome.wustl.edu 37 17 72926394 72926394 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 72926394 72926394 G A SNP OTOP2 ENST00000331427 human ensembl 74_37 +1 known missense c.664 p.G222R 0.665 NULL pfam_Otopetrin - no_errors OTOP2 HGNC ENSG00000183034 169 0 0 90 43 32.3308 C17orf74 0 genome.wustl.edu 37 17 7330046 7330046 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 7330046 7330046 C T SNP C17orf74 ENST00000333870 human ensembl 74_37 +1 known missense c.736 p.R246C 0.990 NULL NULL - no_errors C17orf74 HGNC ENSG00000184560 48 0 0 38 24 38.7097 TMEM102 0 genome.wustl.edu 37 17 7339931 7339931 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 7339931 7339931 T C SNP TMEM102 ENST00000323206 human ensembl 74_37 +1 known silent c.633 p.S211 0.184 NULL NULL - no_errors TMEM102 HGNC ENSG00000181284 128 0 0 74 42 36.2069 KIAA0195 0 genome.wustl.edu 37 17 73487138 73487138 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 73487138 73487138 G A SNP KIAA0195 ENST00000314256 human ensembl 74_37 +1 known silent c.1137 p.L379 0.091 NULL pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC ENSG00000177728 55 0 0 48 12 20 KIAA0195 0 genome.wustl.edu 37 17 73489851 73489851 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 73489851 73489851 T C SNP KIAA0195 ENST00000314256 human ensembl 74_37 +1 known missense c.2261 p.M754T 1.000 NULL pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC ENSG00000177728 148 0 0 133 7 5 LLGL2 0 genome.wustl.edu 37 17 73567789 73567789 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 73567789 73567789 G T SNP LLGL2 ENST00000392550 human ensembl 74_37 +1 known missense c.2218 p.G740C 1.000 NULL pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL2 HGNC ENSG00000073350 69 0 0 53 5 8.62069 ITGB4 0 genome.wustl.edu 37 17 73750675 73750675 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 73750675 73750675 G A SNP ITGB4 ENST00000200181 human ensembl 74_37 +1 known missense c.4337 p.R1446Q 0.996 pirsf_Integrin_bsu-4 pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3 - no_errors ITGB4 HGNC ENSG00000132470 83 0 0 61 39 39 UNK 0 genome.wustl.edu 37 17 73805954 73805954 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 73805954 73805954 G A SNP UNK ENST00000293218 human ensembl 74_37 +1 known missense c.446 p.R149Q 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors UNK HGNC ENSG00000132478 81 0 0 35 23 39.6552 UNK 0 genome.wustl.edu 37 17 73813510 73813510 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 73813510 73813510 G T SNP UNK ENST00000293218 human ensembl 74_37 +1 known missense c.1436 p.G479V 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors UNK HGNC ENSG00000132478 92 0 0 72 4 5.26316 POLR2A 0 genome.wustl.edu 37 17 7402384 7402384 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 7402384 7402384 C T SNP POLR2A ENST00000322644 human ensembl 74_37 +1 known silent c.1362 p.D454 1.000 pfam_RNA_pol_asu,smart_RNA_pol_N pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC ENSG00000181222 151 0 0 66 33 33.3333 RNF157 0 genome.wustl.edu 37 17 74155544 74155544 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 74155544 74155544 G A SNP RNF157 ENST00000269391 human ensembl 74_37 -1 known silent c.1176 p.G392 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF157 HGNC ENSG00000141576 108 0 0 65 17 20.7317 QRICH2 0 genome.wustl.edu 37 17 74287434 74287434 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 74287434 74287434 C T SNP QRICH2 ENST00000262765 human ensembl 74_37 -1 known missense c.2876 p.G959D 0.004 NULL NULL - no_errors QRICH2 HGNC ENSG00000129646 47 0 0 47 5 9.61538 SPHK1 0 genome.wustl.edu 37 17 74383476 74383476 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 74383476 74383476 G A SNP SPHK1 ENST00000323374 human ensembl 74_37 +1 known missense c.1222 p.V408M 0.760 NULL pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors SPHK1 HGNC ENSG00000176170 52 0 0 25 14 35.8974 AANAT 0 genome.wustl.edu 37 17 74464970 74464970 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 74464970 74464970 G A SNP AANAT ENST00000250615 human ensembl 74_37 +1 known missense c.277 p.A93T 1.000 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors AANAT HGNC ENSG00000129673 59 0 0 37 19 33.9286 FXR2 0 genome.wustl.edu 37 17 7496047 7496047 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 7496047 7496047 T C SNP FXR2 ENST00000250113 human ensembl 74_37 -1 known missense c.1694 p.E565G 1.000 NULL pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FXR2 HGNC ENSG00000129245 39 0 0 38 30 44.1176 DNAH17 0 genome.wustl.edu 37 17 76510974 76510974 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 76510974 76510974 G A SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known missense c.3983 p.A1328V 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 132 0 0 102 14 12.069 DNAH17 0 genome.wustl.edu 37 17 76533562 76533562 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 76533562 76533562 T C SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known missense c.2678 p.E893G 0.027 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 41 0 0 14 11 44 CNTROB 0 genome.wustl.edu 37 17 7849161 7849161 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 7849161 7849161 G A SNP CNTROB ENST00000380262 human ensembl 74_37 +1 known missense c.1850 p.R617Q 1.000 NULL NULL - no_errors CNTROB HGNC ENSG00000170037 164 0 0 96 43 30.9353 ENTHD2 0 genome.wustl.edu 37 17 79202811 79202811 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 79202811 79202811 C T SNP ENTHD2 ENST00000300714 human ensembl 74_37 -1 known missense c.1495 p.A499T 0.000 NULL pfam_Epsin_dom_N,superfamily_ENTH_VHS - no_errors ENTHD2 HGNC ENSG00000167302 73 0 0 59 13 18.0556 ASPSCR1 0 genome.wustl.edu 37 17 79952719 79952719 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 79952719 79952719 G A SNP ASPSCR1 ENST00000306729 human ensembl 74_37 +1 known missense c.397 p.G133R 0.362 NULL pfam_TUG/UBX4,pfam_UBX,pfscan_UBX - no_errors ASPSCR1 HGNC ENSG00000169696 125 0 0 73 8 9.87654 FASN 0 genome.wustl.edu 37 17 80046753 80046753 + Splice_Site SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 80046753 80046753 C A SNP FASN ENST00000306749 human ensembl 74_37 -1 known splice_site c.2305-1 e14-1 1.000 - - - no_errors FASN HGNC ENSG00000169710 52 0 0 45 6 11.7647 PER1 0 genome.wustl.edu 37 17 8046772 8046772 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 8046772 8046772 C T SNP PER1 ENST00000317276 human ensembl 74_37 -1 known missense c.2884 p.A962T 0.054 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER1 HGNC ENSG00000179094 31 0 0 23 14 37.8378 WDR45B 0 genome.wustl.edu 37 17 80579639 80579639 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 80579639 80579639 A G SNP WDR45B ENST00000392325 human ensembl 74_37 -1 known missense c.464 p.L155P 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR45B HGNC ENSG00000141580 45 0 0 19 12 38.7097 ZNF750 0 genome.wustl.edu 37 17 80788598 80788598 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 80788598 80788598 G A SNP ZNF750 ENST00000269394 human ensembl 74_37 -1 known missense c.1592 p.T531M 0.000 NULL NULL - no_errors ZNF750 HGNC ENSG00000141579 116 0 0 74 27 26.7327 C17orf59 0 genome.wustl.edu 37 17 8092991 8092991 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 8092991 8092991 G A SNP C17orf59 ENST00000389017 human ensembl 74_37 -1 known silent c.468 p.G156 0.497 NULL pfam_DUF2365 - no_errors C17orf59 HGNC ENSG00000196544 64 0 0 36 16 30.7692 MFSD6L 0 genome.wustl.edu 37 17 8701297 8701297 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 8701297 8701297 A G SNP MFSD6L ENST00000329805 human ensembl 74_37 -1 known missense c.1142 p.I381T 0.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors MFSD6L HGNC ENSG00000185156 83 0 0 48 27 36 PIK3R6 0 genome.wustl.edu 37 17 8738638 8738638 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 8738638 8738638 C T SNP PIK3R6 ENST00000311434 human ensembl 74_37 -1 known silent c.597 p.A199 0.001 pfam_PI3K_1B_gamma_p101_su pfam_PI3K_1B_gamma_p101_su - no_errors PIK3R6 HGNC ENSG00000174083 20 0 0 16 9 36 PIK3R5 0 genome.wustl.edu 37 17 8793299 8793299 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 8793299 8793299 C T SNP PIK3R5 ENST00000447110 human ensembl 74_37 -1 known missense c.802 p.G268R 0.000 pfam_PI3K_1B_gamma_p101_su pfam_PI3K_1B_gamma_p101_su - no_errors PIK3R5 HGNC ENSG00000141506 76 0 0 50 13 20.6349 RPH3AL 0 genome.wustl.edu 37 17 97064 97064 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 97064 97064 A G SNP RPH3AL ENST00000331302 human ensembl 74_37 -1 known missense c.451 p.S151P 1.000 superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ pfam_Znf_FYVE-typ,superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RPH3AL HGNC ENSG00000181031 33 0 0 14 7 33.3333 CEP192 0 genome.wustl.edu 37 18 13057734 13057734 + Splice_Site SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 18 13057734 13057734 T C SNP CEP192 ENST00000506447 human ensembl 74_37 +1 known splice_site c.4257+2 e19+2 1.000 - - - no_errors CEP192 HGNC ENSG00000101639 46 0 0 24 9 27.2727 LAMA3 0 genome.wustl.edu 37 18 21422480 21422480 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 18 21422480 21422480 G A SNP LAMA3 ENST00000313654 human ensembl 74_37 +1 known missense c.3458 p.R1153Q 0.281 NULL pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA3 HGNC ENSG00000053747 106 0 0 60 32 34.7826 COLEC12 0 genome.wustl.edu 37 18 348068 348068 + Missense_Mutation SNP A A T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 18 348068 348068 A T SNP COLEC12 ENST00000400256 human ensembl 74_37 -1 known missense c.277 p.L93I 1.000 NULL pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors COLEC12 HGNC ENSG00000158270 50 0 0 14 14 50 PIK3C3 0 genome.wustl.edu 37 18 39617690 39617690 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 18 39617690 39617690 C T SNP PIK3C3 ENST00000262039 human ensembl 74_37 +1 known missense c.1874 p.T625M 1.000 superfamily_Kinase-like_dom,pirsf_PI3K_Vps34 pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C3 HGNC ENSG00000078142 141 0 0 62 38 38 PIAS2 0 genome.wustl.edu 37 18 44392421 44392421 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 18 44392421 44392421 A G SNP PIAS2 ENST00000585916 human ensembl 74_37 -1 known missense c.1841 p.I614T 1.000 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS2 HGNC ENSG00000078043 24 0 0 13 8 38.0952 ENSG00000173213 0 genome.wustl.edu 37 18 47949 47949 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 18 47949 47949 G A SNP ENSG00000173213 ENST00000308911 human ensembl 74_37 -1 known missense c.776 p.P259L 1.000 superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_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_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors RP11-683L23.1 Clone_based_vega_gene ENSG00000173213 39 0 0 41 27 39.7059 C18orf54 0 genome.wustl.edu 37 18 51888258 51888258 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 18 51888258 51888258 A G SNP C18orf54 ENST00000300091 human ensembl 74_37 +1 known missense c.529 p.M177V 0.000 NULL NULL - no_errors C18orf54 HGNC ENSG00000166845 66 0 0 37 4 9.7561 C18orf54 0 genome.wustl.edu 37 18 51904589 51904589 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 18 51904589 51904589 G A SNP C18orf54 ENST00000300091 human ensembl 74_37 +1 known silent c.1092 p.T364 1.000 NULL NULL - no_errors C18orf54 HGNC ENSG00000166845 67 0 0 23 13 36.1111 ZBTB14 0 genome.wustl.edu 37 18 5291879 5291879 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 18 5291879 5291879 A G SNP ZBTB14 ENST00000357006 human ensembl 74_37 -1 known missense c.328 p.S110P 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_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 ZBTB14 HGNC ENSG00000198081 79 0 0 55 16 22.5352 WDR7 0 genome.wustl.edu 37 18 54603098 54603098 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 18 54603098 54603098 G A SNP WDR7 ENST00000254442 human ensembl 74_37 +1 known missense c.3793 p.A1265T 1.000 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 141 0 0 65 45 40.9091 ATP8B1 0 genome.wustl.edu 37 18 55355551 55355551 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 18 55355551 55355551 C T SNP ATP8B1 ENST00000283684 human ensembl 74_37 -1 known missense c.1409 p.C470Y 1.000 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 ATP8B1 HGNC ENSG00000081923 142 0 0 58 29 33.3333 KIAA1468 0 genome.wustl.edu 37 18 59936180 59936180 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 18 59936180 59936180 A G SNP KIAA1468 ENST00000256858 human ensembl 74_37 +1 known missense c.2759 p.Q920R 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_HEAT_type_2,pfscan_LisH_dimerisation - no_errors KIAA1468 HGNC ENSG00000134444 30 0 0 8 3 27.2727 KIAA1468 0 genome.wustl.edu 37 18 59966038 59966038 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 18 59966038 59966038 A G SNP KIAA1468 ENST00000256858 human ensembl 74_37 +1 known missense c.3577 p.M1193V 1.000 NULL pfam_HEAT,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_HEAT_type_2,pfscan_LisH_dimerisation - no_errors KIAA1468 HGNC ENSG00000134444 43 0 0 17 5 22.7273 CDH7 0 genome.wustl.edu 37 18 63525178 63525178 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 18 63525178 63525178 A G SNP CDH7 ENST00000323011 human ensembl 74_37 +1 known silent c.1362 p.A454 0.998 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 CDH7 HGNC ENSG00000081138 71 0 0 41 23 35.9375 CYB5A 0 genome.wustl.edu 37 18 71928150 71928150 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 18 71928150 71928150 C T SNP CYB5A ENST00000340533 human ensembl 74_37 -1 known silent c.288 p.P96 0.789 superfamily_Cyt_B5-like_heme/steroid-bd pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Cyt_B5-like_heme/steroid-bd - no_errors CYB5A HGNC ENSG00000166347 93 0 0 40 27 40.2985 CNDP2 0 genome.wustl.edu 37 18 72180856 72180856 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 18 72180856 72180856 G A SNP CNDP2 ENST00000324262 human ensembl 74_37 +1 known missense c.805 p.V269I 0.617 pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1 pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1 - no_errors CNDP2 HGNC ENSG00000133313 99 0 0 61 28 31.4607 CNDP1 0 genome.wustl.edu 37 18 72229332 72229332 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 18 72229332 72229332 T C SNP CNDP1 ENST00000358821 human ensembl 74_37 +1 known missense c.517 p.W173R 0.999 pfam_Peptidase_M20,pirsf_GSH_degradosome_DUG1 pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1 - no_errors CNDP1 HGNC ENSG00000150656 119 0 0 37 26 41.2698 ADNP2 0 genome.wustl.edu 37 18 77893889 77893889 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 18 77893889 77893889 C T SNP ADNP2 ENST00000262198 human ensembl 74_37 +1 known missense c.593 p.P198L 0.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP2 HGNC ENSG00000101544 96 0 0 36 27 42.8571 TXNDC2 0 genome.wustl.edu 37 18 9886919 9886919 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 18 9886919 9886919 A G SNP TXNDC2 ENST00000306084 human ensembl 74_37 +1 known missense c.443 p.N148S 0.000 pfam_Glutenin pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold - no_errors TXNDC2 HGNC ENSG00000168454 155 0 0 190 65 25.4902 PDE4A 0 genome.wustl.edu 37 19 10559812 10559812 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 10559812 10559812 C T SNP PDE4A ENST00000352831 human ensembl 74_37 +1 known silent c.606 p.P202 0.989 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4A HGNC ENSG00000065989 16 0 0 19 5 20.8333 DNM2 0 genome.wustl.edu 37 19 10934500 10934500 + Silent SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 10934500 10934500 C A SNP DNM2 ENST00000314646 human ensembl 74_37 +1 known silent c.1818 p.A606 0.998 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology 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 118 0 0 58 23 28.3951 YIPF2 0 genome.wustl.edu 37 19 11034828 11034828 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 11034828 11034828 G A SNP YIPF2 ENST00000253031 human ensembl 74_37 -1 known silent c.408 p.A136 0.008 pfam_Yip1 pfam_Yip1 - no_errors YIPF2 HGNC ENSG00000130733 45 0 0 35 18 33.9623 SMARCA4 0 genome.wustl.edu 37 19 11097604 11097604 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 11097604 11097604 C T SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known missense c.784 p.P262S 0.991 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 93 0 0 27 22 44.898 DOCK6 0 genome.wustl.edu 37 19 11326072 11326072 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 11326072 11326072 C T SNP DOCK6 ENST00000294618 human ensembl 74_37 -1 known missense c.4097 p.R1366H 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N - no_errors DOCK6 HGNC ENSG00000130158 47 0 0 18 12 40 DOCK6 0 genome.wustl.edu 37 19 11356364 11356364 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 11356364 11356364 G T SNP DOCK6 ENST00000294618 human ensembl 74_37 -1 known missense c.898 p.L300M 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N - no_errors DOCK6 HGNC ENSG00000130158 20 0 0 19 3 13.6364 ZNF625 0 genome.wustl.edu 37 19 12256320 12256320 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 12256320 12256320 T C SNP ZNF625 ENST00000439556 human ensembl 74_37 -1 known missense c.911 p.E304G 0.014 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF625 HGNC ENSG00000257591 94 0 0 98 7 6.66667 ZNF799 0 genome.wustl.edu 37 19 12501535 12501535 + Silent SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 12501535 12501535 G T SNP ZNF799 ENST00000430385 human ensembl 74_37 -1 known silent c.1677 p.P559 0.008 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 ZNF799 HGNC ENSG00000196466 104 0 0 49 50 50.5051 TNPO2 0 genome.wustl.edu 37 19 12822199 12822199 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 12822199 12822199 A G SNP TNPO2 ENST00000425528 human ensembl 74_37 -1 known missense c.1028 p.V343A 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 222 0 0 200 13 6.10329 JUNB 0 genome.wustl.edu 37 19 12903208 12903208 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 12903208 12903208 A G SNP JUNB ENST00000302754 human ensembl 74_37 +1 known missense c.623 p.Y208C 1.000 pfam_JNK pfam_JNK,pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun - no_errors JUNB HGNC ENSG00000171223 18 0 0 18 10 35.7143 NACC1 0 genome.wustl.edu 37 19 13246947 13246947 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 13246947 13246947 T C SNP NACC1 ENST00000292431 human ensembl 74_37 +1 known missense c.926 p.M309T 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 53 0 0 53 12 18.4615 NDUFS7 0 genome.wustl.edu 37 19 1390983 1390983 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 1390983 1390983 G A SNP NDUFS7 ENST00000233627 human ensembl 74_37 +1 known silent c.342 p.P114 0.679 pfam_NADH_UbQ_OxRdtase-like_20kDa,tigrfam_NADH_UQ_OxRdtase_20Kd_su pfam_NADH_UbQ_OxRdtase-like_20kDa,tigrfam_NADH_UQ_OxRdtase_20Kd_su - no_errors NDUFS7 HGNC ENSG00000115286 66 0 0 43 33 43.4211 CC2D1A 0 genome.wustl.edu 37 19 14020713 14020713 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 14020713 14020713 T C SNP CC2D1A ENST00000318003 human ensembl 74_37 +1 known silent c.138 p.A46 0.329 NULL pfam_C2_dom,superfamily_C2_dom,smart_DM14,smart_C2_dom - no_errors CC2D1A HGNC ENSG00000132024 76 0 0 64 5 7.24638 DAZAP1 0 genome.wustl.edu 37 19 1421167 1421167 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 1421167 1421167 T C SNP DAZAP1 ENST00000233078 human ensembl 74_37 +1 known silent c.324 p.D108 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors DAZAP1 HGNC ENSG00000071626 139 0 0 111 8 6.72269 LPHN1 0 genome.wustl.edu 37 19 14271455 14271455 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 14271455 14271455 G T SNP LPHN1 ENST00000340736 human ensembl 74_37 -1 known missense c.1579 p.P527T 1.000 pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN1 HGNC ENSG00000072071 25 0 0 20 15 42.8571 PKN1 0 genome.wustl.edu 37 19 14561159 14561159 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 14561159 14561159 C T SNP PKN1 ENST00000342216 human ensembl 74_37 +1 known missense c.658 p.R220C 1.000 pfam_HR1_rho-bd,superfamily_HR1_rho-bd,smart_HR1_rho-bd pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN1 HGNC ENSG00000123143 16 0 0 10 10 50 AKAP8 0 genome.wustl.edu 37 19 15466095 15466095 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 15466095 15466095 A G SNP AKAP8 ENST00000269701 human ensembl 74_37 -1 known silent c.1710 p.P570 0.001 NULL pfam_AKAP95 - no_errors AKAP8 HGNC ENSG00000105127 135 0 0 75 46 38.0165 CHERP 0 genome.wustl.edu 37 19 16631029 16631029 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 16631029 16631029 G A SNP CHERP ENST00000546361 human ensembl 74_37 -1 known missense c.2393 p.S798L 0.935 NULL pfam_Surp,pfam_G_patch_dom,pfam_RNA_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors CHERP HGNC ENSG00000085872 93 0 0 81 5 5.81395 CHERP 0 genome.wustl.edu 37 19 16641463 16641463 + Missense_Mutation SNP T T G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 16641463 16641463 T G SNP CHERP ENST00000546361 human ensembl 74_37 -1 known missense c.809 p.N270T 1.000 pfam_RNA_pol_II-bd,superfamily_ENTH_VHS pfam_Surp,pfam_G_patch_dom,pfam_RNA_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors CHERP HGNC ENSG00000085872 160 0 0 133 9 6.33803 ANKLE1 0 genome.wustl.edu 37 19 17394613 17394613 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 17394613 17394613 G T SNP ANKLE1 ENST00000394458 human ensembl 74_37 +1 known missense c.1040 p.R347M 0.062 NULL pfam_Ankyrin_rpt,pfam_LEM_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_LEM/LEM-like_dom,superfamily_Lactate_DH/Glyco_Ohase_4_C,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_LEM_dom - no_errors ANKLE1 HGNC ENSG00000160117 89 0 0 63 24 27.5862 ABHD8 0 genome.wustl.edu 37 19 17405603 17405603 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 17405603 17405603 C A SNP ABHD8 ENST00000247706 human ensembl 74_37 -1 known missense c.813 p.K271N 0.957 pfam_AB_hydrolase_1,prints_AB_hydrolase_1 pfam_AB_hydrolase_1,prints_AB_hydrolase_1,prints_Epox_hydrolase-like - no_errors ABHD8 HGNC ENSG00000127220 53 0 0 40 5 11.1111 FCHO1 0 genome.wustl.edu 37 19 17883346 17883346 + Silent SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 17883346 17883346 G T SNP FCHO1 ENST00000252771 human ensembl 74_37 +1 known silent c.675 p.T225 0.696 NULL pfam_Muniscin_C-term_mu_dom,pfam_FCH_dom,superfamily_Clathrin_mu_C,smart_FCH_dom,pfscan_FCH_dom - no_errors FCHO1 HGNC ENSG00000130475 57 0 0 37 33 47.1429 PIK3R2 0 genome.wustl.edu 37 19 18273783 18273783 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 18273783 18273783 C T SNP PIK3R2 ENST00000222254 human ensembl 74_37 +1 known silent c.1116 p.G372 0.430 pfam_SH2,smart_SH2,pfscan_SH2 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 51 0 0 54 4 6.89655 KIAA1683 0 genome.wustl.edu 37 19 18376524 18376524 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 18376524 18376524 C T SNP KIAA1683 ENST00000392413 human ensembl 74_37 -1 known missense c.1826 p.G609D 0.000 NULL 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 78 0 0 36 22 37.931 ELL 0 genome.wustl.edu 37 19 18561556 18561556 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 18561556 18561556 T C SNP ELL ENST00000262809 human ensembl 74_37 -1 known missense c.1196 p.D399G 0.993 NULL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL HGNC ENSG00000105656 9 0 0 15 5 25 CRTC1 0 genome.wustl.edu 37 19 18876242 18876242 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 18876242 18876242 G A SNP CRTC1 ENST00000338797 human ensembl 74_37 +1 known silent c.963 p.Q321 1.000 NULL NULL - no_errors CRTC1 HGNC ENSG00000105662 227 0 0 129 80 38.2775 COMP 0 genome.wustl.edu 37 19 18899282 18899282 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 18899282 18899282 G A SNP COMP ENST00000222271 human ensembl 74_37 -1 known silent c.804 p.R268 0.001 NULL pfam_Thrombospondin_C,pfam_EGF-like_Ca-bd_dom,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors COMP HGNC ENSG00000105664 23 0 0 15 5 25 SCAMP4 0 genome.wustl.edu 37 19 1918915 1918915 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 1918915 1918915 G A SNP SCAMP4 ENST00000316097 human ensembl 74_37 +1 known silent c.321 p.A107 0.860 pfam_SCAMP pfam_SCAMP - no_errors SCAMP4 HGNC ENSG00000227500 33 0 0 13 4 23.5294 SUGP1 0 genome.wustl.edu 37 19 19407809 19407809 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 19407809 19407809 G A SNP SUGP1 ENST00000247001 human ensembl 74_37 -1 known missense c.1232 p.S411L 0.702 NULL pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP1 HGNC ENSG00000105705 20 0 0 8 16 66.6667 MAU2 0 genome.wustl.edu 37 19 19455695 19455695 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 19455695 19455695 G T SNP MAU2 ENST00000262815 human ensembl 74_37 +1 known missense c.1115 p.R372L 1.000 pfam_Cohesin_loading_factor pfam_Cohesin_loading_factor,smart_TPR_repeat - no_errors MAU2 HGNC ENSG00000129933 38 0 0 28 5 15.1515 GATAD2A 0 genome.wustl.edu 37 19 19613208 19613208 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 19613208 19613208 A G SNP GATAD2A ENST00000358713 human ensembl 74_37 +1 known silent c.1644 p.S548 0.274 NULL pfam_Znf_GATA,pfscan_Znf_GATA - no_errors GATAD2A HGNC ENSG00000167491 177 0 0 143 8 5.29801 GMIP 0 genome.wustl.edu 37 19 19751333 19751333 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 19751333 19751333 C T SNP GMIP ENST00000203556 human ensembl 74_37 -1 known missense c.286 p.A96T 0.434 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 92 0 0 44 23 34.3284 ATP13A1 0 genome.wustl.edu 37 19 19758069 19758069 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 19758069 19758069 C A SNP ATP13A1 ENST00000357324 human ensembl 74_37 -1 known missense c.2974 p.A992S 1.000 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 173 0 0 77 44 36.3636 ATP13A1 0 genome.wustl.edu 37 19 19770428 19770428 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 19770428 19770428 T C SNP ATP13A1 ENST00000357324 human ensembl 74_37 -1 known missense c.659 p.K220R 1.000 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 75 0 0 38 17 30.9091 ZNF506 0 genome.wustl.edu 37 19 19905686 19905686 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 19905686 19905686 C T SNP ZNF506 ENST00000443905 human ensembl 74_37 -1 known missense c.1010 p.G337E 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF506 HGNC ENSG00000081665 82 0 0 65 5 7.14286 MKNK2 0 genome.wustl.edu 37 19 2041038 2041038 + Splice_Site SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 2041038 2041038 C T SNP MKNK2 ENST00000250896 human ensembl 74_37 -1 known splice_site c.1110+1 e11+1 1.000 - - - no_errors MKNK2 HGNC ENSG00000099875 88 0 0 62 42 40.3846 ZNF737 0 genome.wustl.edu 37 19 20728085 20728085 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 20728085 20728085 G A SNP ZNF737 ENST00000427401 human ensembl 74_37 -1 known silent c.924 p.S308 0.997 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 ZNF737 HGNC ENSG00000237440 34 0 0 43 4 8.51064 MOB3A 0 genome.wustl.edu 37 19 2078215 2078215 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 2078215 2078215 C T SNP MOB3A ENST00000357066 human ensembl 74_37 -1 known silent c.345 p.A115 0.007 pfam_Mob1_phocein,superfamily_Mob1_phocein pfam_Mob1_phocein,superfamily_Mob1_phocein - no_errors MOB3A HGNC ENSG00000172081 33 0 0 24 9 27.2727 DOT1L 0 genome.wustl.edu 37 19 2211118 2211118 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 2211118 2211118 A G SNP DOT1L ENST00000398665 human ensembl 74_37 +1 known missense c.1372 p.S458G 1.000 pirsf_Histone_H3-K79_MeTrfase_met pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met - no_errors DOT1L HGNC ENSG00000104885 164 1 0.606061 151 8 5.03145 ZNF676 0 genome.wustl.edu 37 19 22363929 22363929 + Missense_Mutation SNP T T A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 22363929 22363929 T A SNP ZNF676 ENST00000397121 human ensembl 74_37 -1 known missense c.590 p.Y197F 0.001 smart_Znf_C2H2-like,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 61 0 0 37 6 13.9535 JSRP1 0 genome.wustl.edu 37 19 2254198 2254198 + Missense_Mutation SNP T T G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 2254198 2254198 T G SNP JSRP1 ENST00000300961 human ensembl 74_37 -1 known missense c.250 p.K84Q 0.811 NULL NULL - no_errors JSRP1 HGNC ENSG00000167476 216 0 0 152 37 19.5767 SPPL2B 0 genome.wustl.edu 37 19 2351625 2351625 + RNA SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 2351625 2351625 A G SNP SPPL2B ENST00000452401 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SPPL2B HGNC ENSG00000005206 81 0 0 48 4 7.69231 ZNF91 0 genome.wustl.edu 37 19 23543932 23543932 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 23543932 23543932 G T SNP ZNF91 ENST00000300619 human ensembl 74_37 -1 known missense c.1849 p.L617I 0.002 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF91 HGNC ENSG00000167232 63 0 0 54 7 11.4754 TLE2 0 genome.wustl.edu 37 19 3005804 3005804 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 3005804 3005804 C T SNP TLE2 ENST00000262953 human ensembl 74_37 -1 known missense c.1663 p.V555I 0.998 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Groucho_enhance,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TLE2 HGNC ENSG00000065717 88 0 0 64 5 7.24638 ZNF536 0 genome.wustl.edu 37 19 30934699 30934699 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 30934699 30934699 T C SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known missense c.230 p.M77T 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 38 0 0 42 17 28.8136 S1PR4 0 genome.wustl.edu 37 19 3179136 3179136 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 3179136 3179136 G A SNP S1PR4 ENST00000246115 human ensembl 74_37 +1 known missense c.346 p.A116T 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_EDG6_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn - no_errors S1PR4 HGNC ENSG00000125910 94 0 0 84 6 6.66667 SLC7A9 0 genome.wustl.edu 37 19 33350757 33350757 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 33350757 33350757 G A SNP SLC7A9 ENST00000023064 human ensembl 74_37 -1 known missense c.863 p.A288V 1.000 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A9 HGNC ENSG00000021488 61 0 0 25 24 48.9796 LSM14A 0 genome.wustl.edu 37 19 34712563 34712563 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 34712563 34712563 A G SNP LSM14A ENST00000433627 human ensembl 74_37 +1 known missense c.1288 p.T430A 0.871 NULL pfam_FDF_dom,superfamily_LSM_dom - no_errors LSM14A HGNC ENSG00000257103 64 0 0 40 22 35.4839 MAG 0 genome.wustl.edu 37 19 35791237 35791237 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 35791237 35791237 C T SNP MAG ENST00000392213 human ensembl 74_37 +1 known silent c.900 p.D300 0.999 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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 53 0 0 22 15 40.5405 SBSN 0 genome.wustl.edu 37 19 36017595 36017595 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 36017595 36017595 G A SNP SBSN ENST00000518157 human ensembl 74_37 -1 known missense c.560 p.A187V 0.975 NULL NULL - no_errors SBSN HGNC ENSG00000189001 179 0 0 88 9 9.27835 ATP4A 0 genome.wustl.edu 37 19 36042379 36042379 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 36042379 36042379 C T SNP ATP4A ENST00000262623 human ensembl 74_37 -1 known missense c.2855 p.R952H 1.000 pfam_ATPase_P-typ_cation-transptr_C,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 59 0 0 24 8 25 THEG 0 genome.wustl.edu 37 19 362324 362324 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 362324 362324 A G SNP THEG ENST00000342640 human ensembl 74_37 -1 known missense c.1016 p.L339P 0.792 smart_THEG smart_THEG - no_errors THEG HGNC ENSG00000105549 189 0 0 95 29 23.3871 PIP5K1C 0 genome.wustl.edu 37 19 3651850 3651850 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 3651850 3651850 G A SNP PIP5K1C ENST00000537021 human ensembl 74_37 -1 known silent c.1101 p.R367 0.615 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1C HGNC ENSG00000186111 91 0 0 33 24 42.1053 POLR2I 0 genome.wustl.edu 37 19 36605757 36605757 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 36605757 36605757 A G SNP POLR2I ENST00000221859 human ensembl 74_37 -1 known missense c.2 p.M1T 1.000 NULL pfam_DNA-dir_RNA_pol_M/15kDasu,pfam_Znf_TFIIS,smart_DNA-dir_RNA_pol_M/15kDasu,smart_Znf_TFIIS,pfscan_Znf_TFIIS - no_errors POLR2I HGNC ENSG00000105258 140 0 0 99 56 36.129 ZFR2 0 genome.wustl.edu 37 19 3823364 3823364 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 3823364 3823364 C A SNP ZFR2 ENST00000262961 human ensembl 74_37 -1 known missense c.1251 p.Q417H 0.000 NULL pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR2 HGNC ENSG00000105278 89 0 0 46 18 28.125 RYR1 0 genome.wustl.edu 37 19 38948932 38948932 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 38948932 38948932 G A SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.2167 p.G723R 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY 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 238 0 0 169 12 6.62983 RYR1 0 genome.wustl.edu 37 19 39068588 39068588 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 39068588 39068588 C T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.14203 p.R4735W 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,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 91 0 0 55 24 30.3797 HNRNPL 0 genome.wustl.edu 37 19 39334550 39334550 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 39334550 39334550 G A SNP HNRNPL ENST00000221419 human ensembl 74_37 -1 known missense c.812 p.T271I 0.999 tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors HNRNPL HGNC ENSG00000104824 84 0 0 57 30 34.4828 EEF2 0 genome.wustl.edu 37 19 3976713 3976713 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 3976713 3976713 C T SNP EEF2 ENST00000309311 human ensembl 74_37 -1 known missense c.2416 p.G806S 0.999 pfam_EFG_V,superfamily_EFG_III-V,smart_EFG_V pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EEF2 HGNC ENSG00000167658 24 0 0 13 7 35 DYRK1B 0 genome.wustl.edu 37 19 40319090 40319090 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 40319090 40319090 C T SNP DYRK1B ENST00000323039 human ensembl 74_37 -1 known silent c.654 p.A218 0.986 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 DYRK1B HGNC ENSG00000105204 18 0 0 24 8 25 FCGBP 0 genome.wustl.edu 37 19 40364151 40364151 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 40364151 40364151 C T SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.14491 p.A4831T 0.000 smart_VWC_out pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 50 0 0 39 10 20.4082 PSMC4 0 genome.wustl.edu 37 19 40480653 40480653 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 40480653 40480653 T C SNP PSMC4 ENST00000157812 human ensembl 74_37 +1 known silent c.591 p.D197 0.585 superfamily_P-loop_NTPase,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 59 0 0 32 11 25.5814 PRX 0 genome.wustl.edu 37 19 40904471 40904471 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 40904471 40904471 G T SNP PRX ENST00000291825 human ensembl 74_37 -1 known missense c.437 p.A146E 0.953 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC ENSG00000105227 70 0 0 27 24 47.0588 SPTBN4 0 genome.wustl.edu 37 19 41008833 41008833 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 41008833 41008833 T C SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known missense c.1355 p.V452A 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 92 0 0 75 18 19.3548 ADCK4 0 genome.wustl.edu 37 19 41220300 41220300 + Silent SNP T T A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 41220300 41220300 T A SNP ADCK4 ENST00000324464 human ensembl 74_37 -1 known silent c.105 p.G35 0.005 NULL pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK4 HGNC ENSG00000123815 124 0 0 103 11 9.64912 CEACAM5 0 genome.wustl.edu 37 19 42224958 42224958 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 42224958 42224958 A G SNP CEACAM5 ENST00000221992 human ensembl 74_37 +1 known missense c.1888 p.N630D 0.010 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM5 HGNC ENSG00000105388 168 0 0 137 12 8.05369 SHD 0 genome.wustl.edu 37 19 4280240 4280240 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 4280240 4280240 T C SNP SHD ENST00000543264 human ensembl 74_37 +1 known silent c.180 p.P60 0.006 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SHD HGNC ENSG00000105251 35 0 0 34 3 8.10811 SHD 0 genome.wustl.edu 37 19 4282880 4282880 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 4282880 4282880 C T SNP SHD ENST00000543264 human ensembl 74_37 +1 known missense c.311 p.T104I 0.490 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SHD HGNC ENSG00000105251 116 0 0 91 5 5.20833 PSG3 0 genome.wustl.edu 37 19 43237181 43237181 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 43237181 43237181 T C SNP PSG3 ENST00000327495 human ensembl 74_37 -1 known missense c.464 p.N155S 0.002 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG3 HGNC ENSG00000221826 273 0 0 171 75 30.4878 PSG3 0 genome.wustl.edu 37 19 43243059 43243059 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 43243059 43243059 C T SNP PSG3 ENST00000327495 human ensembl 74_37 -1 known missense c.247 p.V83I 0.000 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG3 HGNC ENSG00000221826 391 0 0 316 19 5.67164 PSG11 0 genome.wustl.edu 37 19 43529018 43529018 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 43529018 43529018 G A SNP PSG11 ENST00000320078 human ensembl 74_37 -1 known silent c.255 p.D85 0.000 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG11 HGNC ENSG00000243130 267 1 0.373134 138 52 27.3684 ZNF230 0 genome.wustl.edu 37 19 44515243 44515243 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 44515243 44515243 T C SNP ZNF230 ENST00000429154 human ensembl 74_37 +1 known missense c.1052 p.L351P 0.004 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 ZNF230 HGNC ENSG00000159882 132 0 0 85 53 38.4058 ZNF226 0 genome.wustl.edu 37 19 44679757 44679757 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 44679757 44679757 T C SNP ZNF226 ENST00000337433 human ensembl 74_37 +1 known silent c.342 p.C114 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 ZNF226 HGNC ENSG00000167380 67 0 0 32 7 17.9487 ZNF180 0 genome.wustl.edu 37 19 45001352 45001352 + Nonsense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 45001352 45001352 G A SNP ZNF180 ENST00000590088 human ensembl 74_37 -1 known nonsense c.121 p.R41* 0.012 NULL NULL - no_errors ZNF180 HGNC ENSG00000167384 32 0 0 19 9 32.1429 PLIN5 0 genome.wustl.edu 37 19 4529193 4529193 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 4529193 4529193 G A SNP PLIN5 ENST00000381848 human ensembl 74_37 -1 known missense c.412 p.R138C 1.000 pfam_Perilipin,pirsf_Perilipin pfam_Perilipin,pirsf_Perilipin - no_errors PLIN5 HGNC ENSG00000214456 186 0 0 102 58 36.25 NKPD1 0 genome.wustl.edu 37 19 45655872 45655872 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 45655872 45655872 C T SNP NKPD1 ENST00000317951 human ensembl 74_37 -1 known missense c.1823 p.R608H 0.936 pfam_KAP_NTPase pfam_KAP_NTPase - no_errors NKPD1 HGNC ENSG00000179846 19 0 0 20 6 23.0769 CD3EAP 0 genome.wustl.edu 37 19 45910493 45910493 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 45910493 45910493 G T SNP CD3EAP ENST00000589804 human ensembl 74_37 +1 known missense c.170 p.C57F 0.998 pfam_DNA-dir_RNA_pol1_su_RPA34 pfam_DNA-dir_RNA_pol1_su_RPA34 - no_errors CD3EAP HGNC ENSG00000117877 65 0 0 74 4 5.12821 EML2 0 genome.wustl.edu 37 19 46122427 46122427 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 46122427 46122427 C T SNP EML2 ENST00000587152 human ensembl 74_37 -1 known missense c.1748 p.G583D 1.000 pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Quinoprot_gluc/sorb_DH,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML2 HGNC ENSG00000125746 19 0 0 15 14 48.2759 PRKD2 0 genome.wustl.edu 37 19 47201084 47201084 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 47201084 47201084 A G SNP PRKD2 ENST00000291281 human ensembl 74_37 -1 known missense c.1145 p.M382T 1.000 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 157 0 0 74 48 39.3443 STRN4 0 genome.wustl.edu 37 19 47228899 47228899 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 47228899 47228899 C T SNP STRN4 ENST00000391910 human ensembl 74_37 -1 known missense c.1276 p.D426N 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,pfam_Striatin_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors STRN4 HGNC ENSG00000090372 58 0 0 30 16 34.7826 FKRP 0 genome.wustl.edu 37 19 47260136 47260136 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 47260136 47260136 G A SNP FKRP ENST00000318584 human ensembl 74_37 +1 known missense c.1429 p.V477I 1.000 NULL pfam_LicD - no_errors FKRP HGNC ENSG00000181027 23 0 0 11 3 21.4286 NPAS1 0 genome.wustl.edu 37 19 47548495 47548495 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 47548495 47548495 C T SNP NPAS1 ENST00000449844 human ensembl 74_37 +1 known silent c.1359 p.N453 0.024 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors NPAS1 HGNC ENSG00000130751 69 0 0 51 5 8.92857 DHX34 0 genome.wustl.edu 37 19 47856680 47856680 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 47856680 47856680 T C SNP DHX34 ENST00000328771 human ensembl 74_37 +1 known silent c.393 p.A131 0.000 NULL 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 123 0 0 128 11 7.91367 LIG1 0 genome.wustl.edu 37 19 48657203 48657203 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 48657203 48657203 C T SNP LIG1 ENST00000263274 human ensembl 74_37 -1 known missense c.392 p.R131Q 0.947 NULL pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_ATP-dep_C,superfamily_DNA_ligase_ATP-dep_N,superfamily_NA-bd_OB-fold,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG1 HGNC ENSG00000105486 34 0 0 22 6 21.4286 DBP 0 genome.wustl.edu 37 19 49140174 49140174 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 49140174 49140174 T C SNP DBP ENST00000222122 human ensembl 74_37 -1 known silent c.78 p.G26 0.995 NULL pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors DBP HGNC ENSG00000105516 12 0 0 7 3 30 GYS1 0 genome.wustl.edu 37 19 49472668 49472668 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 49472668 49472668 C T SNP GYS1 ENST00000323798 human ensembl 74_37 -1 known silent c.2091 p.A697 1.000 NULL pfam_Glycogen_synth,pfam_Glyco_trans_1,pfam_Starch_synth_cat_dom - no_errors GYS1 HGNC ENSG00000104812 9 0 0 8 7 46.6667 RUVBL2 0 genome.wustl.edu 37 19 49510567 49510567 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 49510567 49510567 C T SNP RUVBL2 ENST00000595090 human ensembl 74_37 +1 known missense c.404 p.T135M 0.998 pfam_TIP49_C,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_AAA+_ATPase pfam_TIP49_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_DnaB-like_C,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_AAA+_ATPase,prints_DNA_repair_RadA - no_errors RUVBL2 HGNC ENSG00000183207 73 0 0 39 18 31.5789 HRC 0 genome.wustl.edu 37 19 49658084 49658084 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 49658084 49658084 G A SNP HRC ENST00000252825 human ensembl 74_37 -1 known silent c.411 p.H137 0.000 NULL pfam_Hist_rich_Ca-bd - no_errors HRC HGNC ENSG00000130528 110 0 0 83 33 28.4483 RPL13A 0 genome.wustl.edu 37 19 49994304 49994304 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 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 66 0 0 43 28 39.4366 PRR12 0 genome.wustl.edu 37 19 50099557 50099557 + Silent SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 50099557 50099557 C A SNP PRR12 ENST00000418929 human ensembl 74_37 +1 novel silent c.1965 p.T655 1.000 NULL NULL - no_errors PRR12 HGNC ENSG00000126464 27 0 0 19 4 17.3913 PRR12 0 genome.wustl.edu 37 19 50102912 50102912 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 50102912 50102912 T C SNP PRR12 ENST00000418929 human ensembl 74_37 +1 novel silent c.4062 p.G1354 0.982 NULL NULL - no_errors PRR12 HGNC ENSG00000126464 30 0 0 35 4 10.2564 PRMT1 0 genome.wustl.edu 37 19 50191500 50191500 + Nonstop_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 50191500 50191500 T C SNP PRMT1 ENST00000454376 human ensembl 74_37 +1 known nonstop c.1114 p.*372R 1.000 NULL pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors PRMT1 HGNC ENSG00000126457 119 1 0.833333 93 55 37.1622 SIGLEC16 0 genome.wustl.edu 37 19 50475335 50475335 + RNA SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 50475335 50475335 T C SNP SIGLEC16 ENST00000602139 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors SIGLEC16 HGNC ENSG00000161643 86 0 0 84 5 5.61798 ZNF473 0 genome.wustl.edu 37 19 50542460 50542460 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 50542460 50542460 G A SNP ZNF473 ENST00000270617 human ensembl 74_37 +1 known missense c.52 p.G18R 0.453 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_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 ZNF473 HGNC ENSG00000142528 183 0 0 85 26 23.4234 SHANK1 0 genome.wustl.edu 37 19 51172384 51172384 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 51172384 51172384 G T SNP SHANK1 ENST00000391814 human ensembl 74_37 -1 known missense c.2857 p.L953I 1.000 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 8 0 0 5 11 68.75 SHANK1 0 genome.wustl.edu 37 19 51215284 51215284 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 51215284 51215284 G A SNP SHANK1 ENST00000391814 human ensembl 74_37 -1 known missense c.880 p.P294S 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom 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 98 0 0 47 48 50.5263 ZNF613 0 genome.wustl.edu 37 19 52448330 52448330 + Missense_Mutation SNP A A C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 52448330 52448330 A C SNP ZNF613 ENST00000293471 human ensembl 74_37 +1 known missense c.1194 p.K398N 0.970 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 ZNF613 HGNC ENSG00000176024 62 0 0 40 15 27.2727 ZNF615 0 genome.wustl.edu 37 19 52497205 52497205 + Missense_Mutation SNP T T G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 52497205 52497205 T G SNP ZNF615 ENST00000594083 human ensembl 74_37 -1 known missense c.1157 p.N386T 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 ZNF615 HGNC ENSG00000197619 104 0 0 35 21 37.5 ZNF845 0 genome.wustl.edu 37 19 53856407 53856407 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 53856407 53856407 G A SNP ZNF845 ENST00000458035 human ensembl 74_37 +1 known missense c.2479 p.G827R 0.740 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 ZNF845 HGNC ENSG00000213799 49 0 0 52 4 7.14286 RPS9 0 genome.wustl.edu 37 19 54711410 54711410 + Silent SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 54711410 54711410 G T SNP RPS9 ENST00000302907 human ensembl 74_37 +1 known silent c.552 p.G184 0.962 NULL pfam_Ribosomal_S4/S9_N,pfam_S4_RNA-bd,smart_S4_RNA-bd,pfscan_S4_RNA-bd,tigrfam_Ribosomal_S4/S9_euk/arc - no_errors RPS9 HGNC ENSG00000170889 39 0 0 22 15 40.5405 LILRB3 0 genome.wustl.edu 37 19 54746018 54746018 + Missense_Mutation SNP T T G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 54746018 54746018 T G SNP LILRB3 ENST00000407860 human ensembl 74_37 -1 known missense c.239 p.K80T 0.006 smart_Ig_sub,smart_Ig_sub2 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB3 HGNC ENSG00000204577 504 0 0 294 105 26.3158 TTYH1 0 genome.wustl.edu 37 19 54930326 54930326 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 54930326 54930326 G A SNP TTYH1 ENST00000376531 human ensembl 74_37 +1 known missense c.151 p.A51T 0.991 pfam_Tweety pfam_Tweety - no_errors TTYH1 HGNC ENSG00000167614 217 0 0 86 48 35.8209 LAIR2 0 genome.wustl.edu 37 19 55020282 55020282 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 55020282 55020282 C T SNP LAIR2 ENST00000301202 human ensembl 74_37 +1 known silent c.402 p.P134 0.000 NULL smart_Ig_sub - no_errors LAIR2 HGNC ENSG00000167618 62 0 0 25 17 40.4762 NLRP7 0 genome.wustl.edu 37 19 55447772 55447772 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 55447772 55447772 C T SNP NLRP7 ENST00000446217 human ensembl 74_37 -1 known silent c.2241 p.A747 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 NLRP7 HGNC ENSG00000167634 65 0 0 29 25 46.2963 ZNF628 0 genome.wustl.edu 37 19 55992708 55992708 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 55992708 55992708 C T SNP ZNF628 ENST00000598519 human ensembl 74_37 +1 known missense c.148 p.R50W 0.227 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF628 HGNC ENSG00000197483 29 0 0 39 4 9.30233 CCDC106 0 genome.wustl.edu 37 19 56163920 56163920 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 56163920 56163920 G A SNP CCDC106 ENST00000308964 human ensembl 74_37 +1 known silent c.651 p.T217 0.908 NULL NULL - no_errors CCDC106 HGNC ENSG00000173581 74 0 0 59 30 33.7079 U2AF2 0 genome.wustl.edu 37 19 56179935 56179935 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 56179935 56179935 T C SNP U2AF2 ENST00000308924 human ensembl 74_37 +1 known missense c.805 p.Y269H 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_U2AF_lg pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_U2AF_lg - no_errors U2AF2 HGNC ENSG00000063244 59 0 0 36 11 23.4043 NLRP9 0 genome.wustl.edu 37 19 56243791 56243791 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 56243791 56243791 G A SNP NLRP9 ENST00000332836 human ensembl 74_37 -1 known missense c.1406 p.A469V 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 NLRP9 HGNC ENSG00000185792 186 0 0 145 9 5.84416 ZNF787 0 genome.wustl.edu 37 19 56600306 56600306 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 56600306 56600306 A G SNP ZNF787 ENST00000270459 human ensembl 74_37 -1 known missense c.235 p.S79P 0.579 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF787 HGNC ENSG00000142409 27 0 0 26 2 7.14286 LONP1 0 genome.wustl.edu 37 19 5700808 5700808 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 5700808 5700808 G A SNP LONP1 ENST00000360614 human ensembl 74_37 -1 known missense c.1498 p.R500C 1.000 pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Prk_AAA_dom,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 96 0 0 39 35 47.2973 ZNF71 0 genome.wustl.edu 37 19 57133202 57133202 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 57133202 57133202 G A SNP ZNF71 ENST00000328070 human ensembl 74_37 +1 known missense c.547 p.E183K 0.999 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF71 HGNC ENSG00000197951 73 0 0 51 28 35.443 ZNF835 0 genome.wustl.edu 37 19 57175364 57175364 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 57175364 57175364 G A SNP ZNF835 ENST00000537055 human ensembl 74_37 -1 known silent c.1203 p.H401 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF835 HGNC ENSG00000127903 51 0 0 41 30 42.2535 ZNF835 0 genome.wustl.edu 37 19 57175366 57175366 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 57175366 57175366 G T SNP ZNF835 ENST00000537055 human ensembl 74_37 -1 known missense c.1201 p.H401N 0.323 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF835 HGNC ENSG00000127903 52 0 0 42 29 40.8451 ZIM2 0 genome.wustl.edu 37 19 57286338 57286338 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 57286338 57286338 A G SNP ZIM2 ENST00000221722 human ensembl 74_37 -1 known silent c.1302 p.H434 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZIM2 HGNC ENSG00000269699 58 0 0 32 23 41.8182 AURKC 0 genome.wustl.edu 37 19 57743435 57743435 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 57743435 57743435 C T SNP AURKC ENST00000302804 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 AURKC HGNC ENSG00000105146 67 0 0 37 10 21.2766 ZNF460 0 genome.wustl.edu 37 19 57803526 57803526 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 57803526 57803526 G A SNP ZNF460 ENST00000360338 human ensembl 74_37 +1 known silent c.1617 p.T539 0.083 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 ZNF460 HGNC ENSG00000197714 104 0 0 91 7 7.14286 ZNF814 0 genome.wustl.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 58385546 58385546 G T SNP ZNF814 ENST00000435989 human ensembl 74_37 -1 known missense c.1212 p.D404E 0.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF814 HGNC ENSG00000204514 13 0 0 15 6 28.5714 ZNF814 0 genome.wustl.edu 37 19 58385591 58385591 + Missense_Mutation SNP A A C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 58385591 58385591 A C SNP ZNF814 ENST00000435989 human ensembl 74_37 -1 known missense c.1167 p.F389L 0.289 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 ZNF814 HGNC ENSG00000204514 15 0 0 20 6 23.0769 POLRMT 0 genome.wustl.edu 37 19 629979 629979 + Missense_Mutation SNP T T G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 629979 629979 T G SNP POLRMT ENST00000588649 human ensembl 74_37 -1 known missense c.383 p.K128T 0.001 NULL pfam_DNA-dir_Rpol_phage-type - no_errors POLRMT HGNC ENSG00000099821 92 0 0 48 14 22.5806 TUBB4A 0 genome.wustl.edu 37 19 6496155 6496155 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 6496155 6496155 C T SNP TUBB4A ENST00000264071 human ensembl 74_37 -1 known missense c.355 p.V119I 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Alpha_tubulin,prints_Gamma_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_Alpha_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin - no_errors TUBB4A HGNC ENSG00000104833 96 0 0 77 45 36.8852 CAMSAP3 0 genome.wustl.edu 37 19 7676636 7676636 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 7676636 7676636 C T SNP CAMSAP3 ENST00000446248 human ensembl 74_37 +1 known silent c.1338 p.V446 0.993 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP3 HGNC ENSG00000076826 29 0 0 28 4 12.5 CAMSAP3 0 genome.wustl.edu 37 19 7677715 7677715 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 7677715 7677715 G A SNP CAMSAP3 ENST00000446248 human ensembl 74_37 +1 known missense c.2417 p.R806H 0.542 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP3 HGNC ENSG00000076826 16 0 0 8 9 52.9412 XAB2 0 genome.wustl.edu 37 19 7692277 7692277 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 7692277 7692277 C T SNP XAB2 ENST00000358368 human ensembl 74_37 -1 known missense c.374 p.R125H 0.172 smart_HAT smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors XAB2 HGNC ENSG00000076924 18 0 0 9 12 57.1429 FBN3 0 genome.wustl.edu 37 19 8154554 8154554 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 8154554 8154554 T C SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known missense c.6251 p.D2084G 1.000 pfam_EGF-like_Ca-bd_dom,superfamily_TB_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 174 0 0 182 16 8.08081 PRAM1 0 genome.wustl.edu 37 19 8563150 8563150 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 8563150 8563150 C T SNP PRAM1 ENST00000423345 human ensembl 74_37 -1 known missense c.1456 p.A486T 0.000 NULL superfamily_SH3_domain - no_errors PRAM1 HGNC ENSG00000133246 49 0 0 15 6 28.5714 MYO1F 0 genome.wustl.edu 37 19 8609190 8609190 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 8609190 8609190 G A SNP MYO1F ENST00000338257 human ensembl 74_37 -1 known silent c.1515 p.Y505 0.993 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1F HGNC ENSG00000142347 148 0 0 60 39 39.3939 ZNF317 0 genome.wustl.edu 37 19 9272026 9272026 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 9272026 9272026 G A SNP ZNF317 ENST00000247956 human ensembl 74_37 +1 known missense c.1705 p.D569N 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF317 HGNC ENSG00000130803 88 0 0 57 35 38.0435 ARID3A 0 genome.wustl.edu 37 19 971952 971952 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 971952 971952 A G SNP ARID3A ENST00000263620 human ensembl 74_37 +1 known missense c.1669 p.S557G 0.000 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 52 0 0 46 4 8 TBC1D8 0 genome.wustl.edu 37 2 101644789 101644789 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 101644789 101644789 C T SNP TBC1D8 ENST00000409318 human ensembl 74_37 -1 known silent c.2328 p.S776 0.007 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_Rab-GTPase-TBC_dom - no_errors TBC1D8 HGNC ENSG00000204634 49 0 0 35 17 32.6923 IL1R2 0 genome.wustl.edu 37 2 102626108 102626108 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 102626108 102626108 C A SNP IL1R2 ENST00000332549 human ensembl 74_37 +1 known missense c.152 p.P51H 0.961 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_IL-1_rcpt_II-typ,prints_IL-1_rcpt_I/II-typ - no_errors IL1R2 HGNC ENSG00000115590 292 1 0.341297 134 91 40.4444 SLC9A4 0 genome.wustl.edu 37 2 103095324 103095324 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 103095324 103095324 G T SNP SLC9A4 ENST00000295269 human ensembl 74_37 +1 known missense c.283 p.G95C 0.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger - no_errors SLC9A4 HGNC ENSG00000180251 81 0 0 62 4 6.06061 GPR45 0 genome.wustl.edu 37 2 105858772 105858772 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 105858772 105858772 G A SNP GPR45 ENST00000258456 human ensembl 74_37 +1 known missense c.457 p.A153T 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 - no_errors GPR45 HGNC ENSG00000135973 38 0 0 33 26 44.0678 SULT1C4 0 genome.wustl.edu 37 2 108994925 108994925 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 108994925 108994925 G T SNP SULT1C4 ENST00000272452 human ensembl 74_37 +1 known missense c.132 p.K44N 1.000 superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1C4 HGNC ENSG00000198075 191 1 0.520833 148 17 10.303 LPIN1 0 genome.wustl.edu 37 2 11922594 11922594 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 11922594 11922594 C A SNP LPIN1 ENST00000449576 human ensembl 74_37 +1 known missense c.1372 p.Q458K 0.022 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2 - no_errors LPIN1 HGNC ENSG00000134324 80 0 0 66 15 18.5185 SMPD4 0 genome.wustl.edu 37 2 130929950 130929950 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 130929950 130929950 C T SNP SMPD4 ENST00000409031 human ensembl 74_37 -1 known missense c.748 p.G250R 0.956 NULL NULL - no_errors SMPD4 HGNC ENSG00000136699 41 0 0 32 8 20 PTPN18 0 genome.wustl.edu 37 2 131117217 131117217 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 131117217 131117217 C T SNP PTPN18 ENST00000175756 human ensembl 74_37 +1 known missense c.412 p.R138W 0.884 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN18 HGNC ENSG00000072135 72 0 0 31 9 22.5 POTEJ 0 genome.wustl.edu 37 2 131414456 131414456 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 131414456 131414456 G A SNP POTEJ ENST00000409602 human ensembl 74_37 +1 novel missense c.2123 p.G708E 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEJ HGNC ENSG00000222038 122 0 0 61 50 45.045 POTEJ 0 genome.wustl.edu 37 2 131414975 131414975 + Missense_Mutation SNP A A T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 131414975 131414975 A T SNP POTEJ ENST00000409602 human ensembl 74_37 +1 novel missense c.2642 p.Y881F 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEJ HGNC ENSG00000222038 108 1 0.917431 116 37 24.183 ARHGEF4 0 genome.wustl.edu 37 2 131801095 131801095 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 131801095 131801095 A G SNP ARHGEF4 ENST00000326016 human ensembl 74_37 +1 known missense c.1538 p.Q513R 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,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 ARHGEF4 HGNC ENSG00000136002 122 0 0 85 5 5.55556 MCM6 0 genome.wustl.edu 37 2 136614396 136614396 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 136614396 136614396 A G SNP MCM6 ENST00000264156 human ensembl 74_37 -1 known missense c.1528 p.Y510H 1.000 pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM6,prints_MCM_DNA-dep_ATPase - no_errors MCM6 HGNC ENSG00000076003 68 0 0 52 13 20 LRP1B 0 genome.wustl.edu 37 2 141660583 141660583 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 141660583 141660583 G A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known silent c.3672 p.C1224 1.000 smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 66 0 0 56 4 6.66667 LYPD6 0 genome.wustl.edu 37 2 150294262 150294262 + Missense_Mutation SNP A A C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 150294262 150294262 A C SNP LYPD6 ENST00000334166 human ensembl 74_37 +1 known missense c.40 p.S14R 1.000 NULL pfam_LY6_UPAR - no_errors LYPD6 HGNC ENSG00000187123 74 0 0 43 28 39.4366 NEB 0 genome.wustl.edu 37 2 152482131 152482131 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 152482131 152482131 C T SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.10369 p.D3457N 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif 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 42 0 0 13 8 38.0952 NEB 0 genome.wustl.edu 37 2 152497119 152497119 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 152497119 152497119 C T SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.8435 p.R2812H 0.684 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif 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 221 0 0 190 120 38.7097 ARL6IP6 0 genome.wustl.edu 37 2 153575445 153575445 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 153575445 153575445 C T SNP ARL6IP6 ENST00000326446 human ensembl 74_37 +1 known missense c.307 p.R103W 0.905 NULL NULL - no_errors ARL6IP6 HGNC ENSG00000177917 79 0 0 44 11 20 TANC1 0 genome.wustl.edu 37 2 160027229 160027229 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 160027229 160027229 G A SNP TANC1 ENST00000263635 human ensembl 74_37 +1 known missense c.1264 p.A422T 1.000 superfamily_P-loop_NTPase pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 106 0 0 80 21 20.7921 ITGB6 0 genome.wustl.edu 37 2 161051958 161051958 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 161051958 161051958 A G SNP ITGB6 ENST00000283249 human ensembl 74_37 -1 known missense c.515 p.L172P 1.000 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,prints_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB6 HGNC ENSG00000115221 92 0 0 51 21 29.1667 SLC4A10 0 genome.wustl.edu 37 2 162760684 162760684 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 162760684 162760684 G A SNP SLC4A10 ENST00000446997 human ensembl 74_37 +1 known missense c.1613 p.R538H 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 SLC4A10 HGNC ENSG00000144290 23 0 0 8 6 42.8571 KCNH7 0 genome.wustl.edu 37 2 163279956 163279956 + Nonsense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 163279956 163279956 G A SNP KCNH7 ENST00000332142 human ensembl 74_37 -1 known nonsense c.2044 p.R682* 0.985 superfamily_cNMP-bd-like pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS - no_errors KCNH7 HGNC ENSG00000184611 172 0 0 108 13 10.7438 FIGN 0 genome.wustl.edu 37 2 164466809 164466809 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 164466809 164466809 C T SNP FIGN ENST00000333129 human ensembl 74_37 -1 known silent c.1533 p.A511 0.846 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGN HGNC ENSG00000182263 108 0 0 66 15 18.5185 PXDN 0 genome.wustl.edu 37 2 1652519 1652519 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 1652519 1652519 G A SNP PXDN ENST00000252804 human ensembl 74_37 -1 known silent c.3033 p.G1011 0.057 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 16 0 0 9 6 40 SCN7A 0 genome.wustl.edu 37 2 167318977 167318977 + Missense_Mutation SNP A A C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 167318977 167318977 A C SNP SCN7A ENST00000409855 human ensembl 74_37 -1 known missense c.1005 p.N335K 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 27 0 0 16 7 30.4348 FASTKD1 0 genome.wustl.edu 37 2 170416934 170416934 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 170416934 170416934 C T SNP FASTKD1 ENST00000453153 human ensembl 74_37 -1 known missense c.934 p.A312T 0.000 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD1 HGNC ENSG00000138399 142 0 0 67 28 29.4737 ENSG00000268241 0 genome.wustl.edu 37 2 175201908 175201908 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 175201908 175201908 C T SNP ENSG00000268241 ENST00000595354 human ensembl 74_37 -1 known missense c.244 p.V82I 1.000 NULL NULL - no_errors AC018470.1 Clone_based_ensembl_gene ENSG00000268241 24 0 0 16 9 36 GPR155 0 genome.wustl.edu 37 2 175318565 175318565 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 175318565 175318565 G A SNP GPR155 ENST00000295500 human ensembl 74_37 -1 known silent c.1776 p.C592 1.000 NULL pfam_Auxin_eff,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors GPR155 HGNC ENSG00000163328 132 0 0 57 43 43 HOXD13 0 genome.wustl.edu 37 2 176958067 176958067 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 176958067 176958067 C T SNP HOXD13 ENST00000392539 human ensembl 74_37 +1 putative missense c.449 p.A150V 0.994 pfam_HoxA13_N pfam_Homeobox_dom,pfam_HoxA13_N,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HOXD13 HGNC ENSG00000128714 56 0 0 33 20 37.7358 HOXD4 0 genome.wustl.edu 37 2 177016573 177016573 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 177016573 177016573 C T SNP HOXD4 ENST00000306324 human ensembl 74_37 +1 known missense c.212 p.S71L 0.997 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXD4 HGNC ENSG00000170166 13 0 0 12 7 36.8421 TTN 0 genome.wustl.edu 37 2 179421600 179421600 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 179421600 179421600 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.80577 p.G26859 0.970 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,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 62 0 0 28 14 33.3333 TTN 0 genome.wustl.edu 37 2 179474580 179474580 + Silent SNP A A C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 179474580 179474580 A C SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.43866 p.G14622 0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,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 458 3 0.650759 276 19 6.44068 TTN 0 genome.wustl.edu 37 2 179485026 179485026 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 179485026 179485026 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.38518 p.A12840T 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 111 0 0 57 32 35.9551 TTN 0 genome.wustl.edu 37 2 179583661 179583661 + Missense_Mutation SNP A A C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 179583661 179583661 A C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.20534 p.V6845G 0.997 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,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 20 0 0 25 3 10.7143 TTN 0 genome.wustl.edu 37 2 179637974 179637974 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 179637974 179637974 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.7717 p.K2573E 0.981 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 34 0 0 25 7 21.875 KCNS3 0 genome.wustl.edu 37 2 18112978 18112978 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 18112978 18112978 G A SNP KCNS3 ENST00000304101 human ensembl 74_37 +1 known missense c.703 p.G235R 0.043 pfam_Ion_trans_dom,prints_K_chnl 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_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv2 - no_errors KCNS3 HGNC ENSG00000170745 161 0 0 58 47 44.7619 ITGA4 0 genome.wustl.edu 37 2 182339713 182339713 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 182339713 182339713 A G SNP ITGA4 ENST00000397033 human ensembl 74_37 +1 known missense c.346 p.K116E 1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA4 HGNC ENSG00000115232 53 0 0 49 11 18.3333 NEUROD1 0 genome.wustl.edu 37 2 182543576 182543576 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 182543576 182543576 C T SNP NEUROD1 ENST00000295108 human ensembl 74_37 -1 known silent c.12 p.S4 0.074 pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD1 HGNC ENSG00000162992 90 0 0 40 23 36.5079 NCKAP1 0 genome.wustl.edu 37 2 183829478 183829478 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 183829478 183829478 A G SNP NCKAP1 ENST00000360982 human ensembl 74_37 -1 known missense c.1705 p.S569P 1.000 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1 - no_errors NCKAP1 HGNC ENSG00000061676 54 0 0 18 13 41.9355 ITGAV 0 genome.wustl.edu 37 2 187501806 187501806 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 187501806 187501806 G A SNP ITGAV ENST00000261023 human ensembl 74_37 +1 known missense c.772 p.V258I 1.000 pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGAV HGNC ENSG00000138448 131 0 0 55 32 36.7816 COL5A2 0 genome.wustl.edu 37 2 189927992 189927992 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 189927992 189927992 G A SNP COL5A2 ENST00000374866 human ensembl 74_37 -1 known missense c.1775 p.A592V 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 COL5A2 HGNC ENSG00000204262 124 0 0 51 32 38.5542 ASNSD1 0 genome.wustl.edu 37 2 190531821 190531821 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 190531821 190531821 T C SNP ASNSD1 ENST00000260952 human ensembl 74_37 +1 known silent c.963 p.N321 0.037 pfam_Asn_synthase pfam_Asn_synthase - no_errors ASNSD1 HGNC ENSG00000138381 270 0 0 158 9 5.38922 MYT1L 0 genome.wustl.edu 37 2 1906994 1906994 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 1906994 1906994 C T SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known silent c.1890 p.P630 0.924 pfam_Myelin_TF pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 50 0 0 29 14 32.5581 DNAH7 0 genome.wustl.edu 37 2 196837015 196837015 + Missense_Mutation SNP T T A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 196837015 196837015 T A SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.2009 p.H670L 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 74 0 0 46 12 20.6897 AOX1 0 genome.wustl.edu 37 2 201501717 201501717 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 201501717 201501717 G A SNP AOX1 ENST00000374700 human ensembl 74_37 +1 known silent c.2430 p.K810 0.888 pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase - no_errors AOX1 HGNC ENSG00000138356 101 1 0.980392 66 4 5.71429 BZW1 0 genome.wustl.edu 37 2 201683103 201683103 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 201683103 201683103 A G SNP BZW1 ENST00000409600 human ensembl 74_37 +1 known missense c.806 p.D269G 1.000 superfamily_ARM-type_fold pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain - no_errors BZW1 HGNC ENSG00000082153 48 0 0 27 10 27.027 FAM126B 0 genome.wustl.edu 37 2 201862260 201862260 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 201862260 201862260 A G SNP FAM126B ENST00000418596 human ensembl 74_37 -1 known silent c.534 p.F178 1.000 pfam_Hyccin pfam_Hyccin - no_errors FAM126B HGNC ENSG00000155744 61 0 0 37 10 21.2766 CFLAR 0 genome.wustl.edu 37 2 202025304 202025304 + Silent SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 202025304 202025304 C A SNP CFLAR ENST00000309955 human ensembl 74_37 +1 known silent c.943 p.R315 1.000 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_ICE_p20 pfam_DED,pfam_Pept_C14_caspase,superfamily_DEATH-like_dom,smart_DED,smart_Pept_C14A_p45_core,pfscan_DED,pfscan_Pept_C14_ICE_p20 - no_errors CFLAR HGNC ENSG00000003402 165 0 0 91 60 39.7351 CDK15 0 genome.wustl.edu 37 2 202737024 202737024 + Nonsense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 202737024 202737024 C T SNP CDK15 ENST00000374598 human ensembl 74_37 +1 known nonsense c.1033 p.R345* 0.016 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 CDK15 HGNC ENSG00000138395 118 0 0 56 15 21.1268 NDUFS1 0 genome.wustl.edu 37 2 207008754 207008754 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 207008754 207008754 G A SNP NDUFS1 ENST00000455934 human ensembl 74_37 -1 known silent c.1017 p.R339 0.991 pfam_Mopterin_OxRdtase,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 91 0 0 18 9 33.3333 EEF1B2 0 genome.wustl.edu 37 2 207027581 207027581 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 207027581 207027581 G A SNP EEF1B2 ENST00000236957 human ensembl 74_37 +1 known missense c.652 p.D218N 1.000 pfam_Transl_elong_fac_EF1B_bsu/dsu,superfamily_Transl_elong_fac_EF1B_bsu/dsu,smart_Transl_elong_fac_EF1B_bsu/dsu pfam_Transl_elong_fac_EF1B_bsu/dsu,pfam_EF-1_beta_acid_region_euk,superfamily_Transl_elong_fac_EF1B_bsu/dsu,superfamily_Glutathione-S-Trfase_C-like,smart_Transl_elong_fac_EF1B_bsu/dsu - no_errors EEF1B2 HGNC ENSG00000114942 61 0 0 39 7 15.2174 CPS1 0 genome.wustl.edu 37 2 211512694 211512694 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 211512694 211512694 C T SNP CPS1 ENST00000430249 human ensembl 74_37 +1 known silent c.3267 p.I1089 0.094 pfam_CarbamoylP_synth_lsu_N,superfamily_PreATP-grasp_dom,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 122 0 0 52 19 26.7606 ERBB4 0 genome.wustl.edu 37 2 212426654 212426654 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 212426654 212426654 G T SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.2461 p.L821I 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_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_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,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 ERBB4 HGNC ENSG00000178568 139 0 0 65 20 23.5294 SPAG16 0 genome.wustl.edu 37 2 214727247 214727247 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 214727247 214727247 G A SNP SPAG16 ENST00000331683 human ensembl 74_37 +1 known missense c.1109 p.C370Y 0.566 pfam_WD40_repeat,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,prints_G-protein_beta_WD-40_rep - no_errors SPAG16 HGNC ENSG00000144451 101 0 0 52 30 36.5854 RNF25 0 genome.wustl.edu 37 2 219530916 219530916 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 219530916 219530916 T C SNP RNF25 ENST00000295704 human ensembl 74_37 -1 known missense c.395 p.H132R 1.000 superfamily_UBQ-conjugating_enzyme/RWD pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,smart_Znf_RING,pfscan_RWD-domain,pfscan_Znf_RING - no_errors RNF25 HGNC ENSG00000163481 35 0 0 25 9 26.4706 PRKAG3 0 genome.wustl.edu 37 2 219688557 219688557 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 219688557 219688557 G A SNP PRKAG3 ENST00000233944 human ensembl 74_37 -1 known silent c.1398 p.G466 0.777 pfam_CBS_dom,smart_CBS_dom pfam_CBS_dom,smart_CBS_dom - no_errors PRKAG3 HGNC ENSG00000115592 125 0 0 117 7 5.64516 WNT6 0 genome.wustl.edu 37 2 219736502 219736502 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 219736502 219736502 C T SNP WNT6 ENST00000233948 human ensembl 74_37 +1 known silent c.597 p.R199 0.027 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt6 - no_errors WNT6 HGNC ENSG00000115596 27 0 0 14 14 50 WNT6 0 genome.wustl.edu 37 2 219738385 219738385 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 219738385 219738385 C T SNP WNT6 ENST00000233948 human ensembl 74_37 +1 known missense c.916 p.R306C 0.999 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt6 - no_errors WNT6 HGNC ENSG00000115596 12 0 0 8 7 46.6667 CDK5R2 0 genome.wustl.edu 37 2 219824884 219824884 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 219824884 219824884 C T SNP CDK5R2 ENST00000302625 human ensembl 74_37 +1 known silent c.342 p.G114 0.981 pfam_CDK5_activator,pirsf_CDK5_activator pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator - no_errors CDK5R2 HGNC ENSG00000171450 12 0 0 17 11 39.2857 CCDC108 0 genome.wustl.edu 37 2 219900328 219900328 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 219900328 219900328 T C SNP CCDC108 ENST00000341552 human ensembl 74_37 -1 known missense c.416 p.K139R 0.988 NULL superfamily_PapD-like,pfscan_MSP_dom - no_errors CCDC108 HGNC ENSG00000181378 126 0 0 77 7 8.33333 ATG9A 0 genome.wustl.edu 37 2 220089143 220089143 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 220089143 220089143 G A SNP ATG9A ENST00000361242 human ensembl 74_37 -1 known missense c.950 p.A317V 0.389 pfam_Autophagy-rel_prot_9,superfamily_Cyt_c_oxidase_su3 pfam_Autophagy-rel_prot_9,superfamily_Cyt_c_oxidase_su3 - no_errors ATG9A HGNC ENSG00000198925 44 0 0 51 6 10.5263 SPEG 0 genome.wustl.edu 37 2 220333585 220333585 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 220333585 220333585 C T SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel silent c.3306 p.C1102 0.001 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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 31 0 0 20 16 44.4444 IRS1 0 genome.wustl.edu 37 2 227662263 227662263 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 227662263 227662263 T C SNP IRS1 ENST00000305123 human ensembl 74_37 -1 known missense c.1192 p.S398G 1.000 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 102 0 0 134 9 6.29371 C2orf83 0 genome.wustl.edu 37 2 228476166 228476166 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 228476166 228476166 T C SNP C2orf83 ENST00000264387 human ensembl 74_37 -1 known missense c.397 p.K133E 0.008 NULL pfam_Folate_carrier - no_errors C2orf83 HGNC ENSG00000042304 138 0 0 60 42 41.1765 DIS3L2 0 genome.wustl.edu 37 2 233194563 233194563 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 233194563 233194563 G T SNP DIS3L2 ENST00000325385 human ensembl 74_37 +1 known missense c.1780 p.A594S 1.000 NULL NULL - no_errors DIS3L2 HGNC ENSG00000144535 31 0 0 15 10 40 ECEL1 0 genome.wustl.edu 37 2 233347838 233347838 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 233347838 233347838 C T SNP ECEL1 ENST00000304546 human ensembl 74_37 -1 known missense c.1558 p.D520N 1.000 NULL pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECEL1 HGNC ENSG00000171551 17 0 0 21 11 34.375 SAG 0 genome.wustl.edu 37 2 234240330 234240330 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 234240330 234240330 G A SNP SAG ENST00000409110 human ensembl 74_37 +1 known missense c.778 p.V260I 0.993 pfam_Arrestin_C-like,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin - no_errors SAG HGNC ENSG00000130561 29 0 0 15 13 46.4286 UGT1A4 0 genome.wustl.edu 37 2 234627686 234627686 + Missense_Mutation SNP T T A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 234627686 234627686 T A SNP UGT1A4 ENST00000373409 human ensembl 74_37 +1 known missense c.220 p.F74I 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A4 HGNC ENSG00000244474 72 0 0 61 4 6.15385 AGAP1 0 genome.wustl.edu 37 2 236839450 236839450 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 236839450 236839450 A G SNP AGAP1 ENST00000304032 human ensembl 74_37 +1 known missense c.1366 p.I456V 0.941 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP1 HGNC ENSG00000157985 77 0 0 43 19 30.6452 HDAC4 0 genome.wustl.edu 37 2 240061463 240061463 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 240061463 240061463 C T SNP HDAC4 ENST00000345617 human ensembl 74_37 -1 known missense c.895 p.G299R 0.986 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 132 0 0 75 25 25 KIF1A 0 genome.wustl.edu 37 2 241676582 241676582 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 241676582 241676582 C T SNP KIF1A ENST00000498729 human ensembl 74_37 -1 known missense c.3905 p.R1302H 1.000 pfam_Kinesin-like 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 148 0 0 73 44 37.6068 PASK 0 genome.wustl.edu 37 2 242054701 242054701 + Splice_Site SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 242054701 242054701 A G SNP PASK ENST00000358649 human ensembl 74_37 -1 known splice_site c.3198+2 e12+2 0.998 - - - no_errors PASK HGNC ENSG00000115687 137 1 0.724638 52 15 22.3881 THAP4 0 genome.wustl.edu 37 2 242572918 242572918 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 242572918 242572918 C T SNP THAP4 ENST00000407315 human ensembl 74_37 -1 known missense c.654 p.M218I 0.139 NULL pfam_DUF1794,pfam_Znf_C2CH,superfamily_Calycin-like,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP4 HGNC ENSG00000176946 141 0 0 69 43 38.3929 THAP4 0 genome.wustl.edu 37 2 242572945 242572945 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 242572945 242572945 G A SNP THAP4 ENST00000407315 human ensembl 74_37 -1 known silent c.627 p.G209 0.000 NULL pfam_DUF1794,pfam_Znf_C2CH,superfamily_Calycin-like,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP4 HGNC ENSG00000176946 175 0 0 113 11 8.87097 D2HGDH 0 genome.wustl.edu 37 2 242680464 242680464 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 242680464 242680464 G A SNP D2HGDH ENST00000321264 human ensembl 74_37 +1 known silent c.309 p.L103 1.000 pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2 pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2,superfamily_FAD-linked_Oxase-like_C - no_errors D2HGDH HGNC ENSG00000180902 39 0 0 21 10 32.2581 CXXC11 0 genome.wustl.edu 37 2 242814647 242814647 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 242814647 242814647 G T SNP CXXC11 ENST00000343216 human ensembl 74_37 +1 known missense c.940 p.G314C 0.003 NULL NULL - no_errors CXXC11 HGNC ENSG00000188011 96 0 0 59 4 6.34921 ADCY3 0 genome.wustl.edu 37 2 25141233 25141233 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 25141233 25141233 G A SNP ADCY3 ENST00000260600 human ensembl 74_37 -1 known silent c.624 p.T208 0.056 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY3 HGNC ENSG00000138031 77 0 0 53 4 7.01754 KIF3C 0 genome.wustl.edu 37 2 26152924 26152924 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 26152924 26152924 C T SNP KIF3C ENST00000264712 human ensembl 74_37 -1 known missense c.2015 p.S672N 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 KIF3C HGNC ENSG00000084731 127 0 0 75 24 24.2424 KIF3C 0 genome.wustl.edu 37 2 26204576 26204576 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 26204576 26204576 C T SNP KIF3C ENST00000264712 human ensembl 74_37 -1 known missense c.211 p.A71T 0.799 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 KIF3C HGNC ENSG00000084731 172 0 0 142 12 7.79221 DPYSL5 0 genome.wustl.edu 37 2 27121530 27121530 + Nonsense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 27121530 27121530 G T SNP DPYSL5 ENST00000288699 human ensembl 74_37 +1 known nonsense c.163 p.G55* 0.999 superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL5 HGNC ENSG00000157851 61 0 0 46 25 35.2113 C2orf53 0 genome.wustl.edu 37 2 27361028 27361028 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 27361028 27361028 C T SNP C2orf53 ENST00000335524 human ensembl 74_37 -1 known missense c.170 p.R57H 0.000 NULL NULL - no_errors C2orf53 HGNC ENSG00000186143 32 0 0 28 12 30 FOSL2 0 genome.wustl.edu 37 2 28631707 28631707 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 28631707 28631707 C T SNP FOSL2 ENST00000264716 human ensembl 74_37 +1 known missense c.436 p.R146W 1.000 pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors FOSL2 HGNC ENSG00000075426 28 0 0 20 7 25.9259 XDH 0 genome.wustl.edu 37 2 31589790 31589790 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 31589790 31589790 G A SNP XDH ENST00000379416 human ensembl 74_37 -1 known silent c.2268 p.G756 0.479 pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu - no_errors XDH HGNC ENSG00000158125 129 0 0 121 7 5.46875 XDH 0 genome.wustl.edu 37 2 31625916 31625916 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 31625916 31625916 G A SNP XDH ENST00000379416 human ensembl 74_37 -1 known silent c.195 p.I65 0.004 pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu - no_errors XDH HGNC ENSG00000158125 115 0 0 82 5 5.74713 LTBP1 0 genome.wustl.edu 37 2 33468789 33468789 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 33468789 33468789 G A SNP LTBP1 ENST00000354476 human ensembl 74_37 +1 known missense c.1937 p.G646D 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 101 0 0 64 5 7.24638 LTBP1 0 genome.wustl.edu 37 2 33589401 33589401 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 33589401 33589401 T C SNP LTBP1 ENST00000354476 human ensembl 74_37 +1 known silent c.4521 p.C1507 0.518 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 45 0 0 30 7 18.9189 CRIM1 0 genome.wustl.edu 37 2 36726453 36726453 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 36726453 36726453 C T SNP CRIM1 ENST00000280527 human ensembl 74_37 +1 known silent c.1464 p.R488 0.931 pfam_Antistasin-like,superfamily_Hirudin/antistatin pfam_VWF_C,pfam_Antistasin-like,superfamily_Hirudin/antistatin,smart_IGFBP-like,smart_VWC_out,smart_VWF_C,pfscan_VWF_C - no_errors CRIM1 HGNC ENSG00000150938 144 0 0 73 7 8.75 VIT 0 genome.wustl.edu 37 2 37035886 37035886 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 37035886 37035886 A G SNP VIT ENST00000379242 human ensembl 74_37 +1 known missense c.1661 p.Y554C 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A - no_errors VIT HGNC ENSG00000205221 98 0 0 62 20 24.3902 STRN 0 genome.wustl.edu 37 2 37076914 37076914 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 37076914 37076914 G T SNP STRN ENST00000263918 human ensembl 74_37 -1 known missense c.2116 p.L706I 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Striatin_N,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 STRN HGNC ENSG00000115808 77 0 0 51 4 7.27273 SOCS5 0 genome.wustl.edu 37 2 46985744 46985744 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 46985744 46985744 C T SNP SOCS5 ENST00000306503 human ensembl 74_37 +1 known silent c.75 p.S25 0.992 NULL pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS5 HGNC ENSG00000171150 70 0 0 36 23 38.9831 CCDC104 0 genome.wustl.edu 37 2 55746995 55746995 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 55746995 55746995 C A SNP CCDC104 ENST00000339012 human ensembl 74_37 +1 known missense c.58 p.L20M 1.000 pfam_ARF-like_2-bdp_dom pfam_ARF-like_2-bdp_dom - no_errors CCDC104 HGNC ENSG00000163001 123 0 0 87 22 20.1835 RPS4XP5 0 genome.wustl.edu 37 2 63870744 63870744 + RNA SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 63870744 63870744 T C SNP RPS4XP5 ENST00000449995 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RPS4XP5 HGNC ENSG00000229920 14 0 0 13 5 27.7778 ADD2 0 genome.wustl.edu 37 2 70903966 70903966 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 70903966 70903966 G A SNP ADD2 ENST00000264436 human ensembl 74_37 -1 known missense c.1555 p.L519F 1.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD2 HGNC ENSG00000075340 108 0 0 74 5 6.32911 DYSF 0 genome.wustl.edu 37 2 71795421 71795421 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 71795421 71795421 G A SNP DYSF ENST00000413539 human ensembl 74_37 +1 known silent c.2856 p.S952 0.000 smart_Peroxin/Ferlin pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 587 1 0.170068 318 157 33.0526 TET3 0 genome.wustl.edu 37 2 74327911 74327911 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 74327911 74327911 C T SNP TET3 ENST00000409262 human ensembl 74_37 +1 known silent c.3591 p.Y1197 0.950 NULL NULL - no_errors TET3 HGNC ENSG00000187605 19 0 0 10 9 47.3684 DCTN1 0 genome.wustl.edu 37 2 74596303 74596303 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 74596303 74596303 A G SNP DCTN1 ENST00000361874 human ensembl 74_37 -1 known silent c.1623 p.S541 0.985 pfam_Dynactin,superfamily_P-loop_NTPase pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,superfamily_P-loop_NTPase,pfscan_CAP-Gly_domain - no_errors DCTN1 HGNC ENSG00000204843 58 0 0 55 12 17.9104 TTC31 0 genome.wustl.edu 37 2 74717792 74717792 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 74717792 74717792 C T SNP TTC31 ENST00000442235 human ensembl 74_37 +1 known missense c.40 p.R14C 0.152 NULL NULL - no_errors TTC31 HGNC ENSG00000115282 23 0 0 10 12 54.5455 TRABD2A 0 genome.wustl.edu 37 2 85049040 85049040 + RNA SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 85049040 85049040 G A SNP TRABD2A ENST00000479944 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TRABD2A HGNC ENSG00000186854 10 0 0 13 4 23.5294 MBOAT2 0 genome.wustl.edu 37 2 9017342 9017342 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 9017342 9017342 G A SNP MBOAT2 ENST00000305997 human ensembl 74_37 -1 known missense c.508 p.R170C 1.000 pfam_MBOAT_fam pfam_MBOAT_fam,superfamily_MFS_dom_general_subst_transpt - no_errors MBOAT2 HGNC ENSG00000143797 48 0 0 31 14 31.1111 FAHD2CP 0 genome.wustl.edu 37 2 96681040 96681040 + RNA SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 96681040 96681040 C A SNP FAHD2CP ENST00000607780 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors FAHD2CP HGNC ENSG00000231584 27 0 0 22 9 29.0323 SNRNP200 0 genome.wustl.edu 37 2 96940786 96940786 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 96940786 96940786 A G SNP SNRNP200 ENST00000323853 human ensembl 74_37 -1 known silent c.6375 p.D2125 0.926 smart_Sec63-dom pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC ENSG00000144028 148 0 0 72 41 36.2832 KANSL3 0 genome.wustl.edu 37 2 97278221 97278221 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 97278221 97278221 G A SNP KANSL3 ENST00000431828 human ensembl 74_37 -1 known missense c.992 p.A331V 0.957 NULL NULL - no_errors KANSL3 HGNC ENSG00000114982 202 0 0 122 12 8.95522 ANKEF1 0 genome.wustl.edu 37 20 10026254 10026254 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 10026254 10026254 C T SNP ANKEF1 ENST00000378380 human ensembl 74_37 +1 known silent c.729 p.D243 0.005 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EF_hand_dom,prints_Ankyrin_rpt - no_errors ANKEF1 HGNC ENSG00000132623 58 0 0 20 11 35.4839 SNRPB2 0 genome.wustl.edu 37 20 16712392 16712392 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 16712392 16712392 T C SNP SNRPB2 ENST00000246071 human ensembl 74_37 +1 known silent c.45 p.N15 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SNRPB2 HGNC ENSG00000125870 110 0 0 29 21 42 CSRP2BP 0 genome.wustl.edu 37 20 18143317 18143317 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 18143317 18143317 G A SNP CSRP2BP ENST00000435364 human ensembl 74_37 +1 known missense c.1399 p.E467K 1.000 NULL pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors CSRP2BP HGNC ENSG00000149474 68 0 0 44 26 37.1429 C20orf26 0 genome.wustl.edu 37 20 20278851 20278851 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 20278851 20278851 G A SNP C20orf26 ENST00000245957 human ensembl 74_37 +1 known silent c.3243 p.A1081 0.000 NULL superfamily_Acyl_CoA_acyltransferase - no_errors C20orf26 HGNC ENSG00000089101 64 0 0 37 23 38.3333 PAX1 0 genome.wustl.edu 37 20 21689866 21689866 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 21689866 21689866 T C SNP PAX1 ENST00000398485 human ensembl 74_37 +1 known missense c.1066 p.S356P 0.075 NULL pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX1 HGNC ENSG00000125813 236 2 0.840336 135 41 23.2955 CD93 0 genome.wustl.edu 37 20 23064957 23064957 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 23064957 23064957 C T SNP CD93 ENST00000246006 human ensembl 74_37 -1 known missense c.1873 p.A625T 0.011 NULL pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_C-type_lectin - no_errors CD93 HGNC ENSG00000125810 237 0 0 105 56 34.7826 GZF1 0 genome.wustl.edu 37 20 23350276 23350276 + Silent SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 23350276 23350276 C A SNP GZF1 ENST00000338121 human ensembl 74_37 +1 known silent c.1683 p.A561 0.710 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 GZF1 HGNC ENSG00000125812 182 0 0 74 37 33.3333 PYGB 0 genome.wustl.edu 37 20 25259726 25259726 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 25259726 25259726 C A SNP PYGB ENST00000216962 human ensembl 74_37 +1 known missense c.1033 p.L345I 0.977 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 39 0 0 18 9 33.3333 NINL 0 genome.wustl.edu 37 20 25457303 25457303 + Missense_Mutation SNP G G C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 25457303 25457303 G C SNP NINL ENST00000278886 human ensembl 74_37 -1 known missense c.2624 p.A875G 0.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NINL HGNC ENSG00000101004 17 0 0 13 6 31.5789 NINL 0 genome.wustl.edu 37 20 25457469 25457469 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 25457469 25457469 G A SNP NINL ENST00000278886 human ensembl 74_37 -1 known missense c.2458 p.P820S 0.002 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NINL HGNC ENSG00000101004 49 0 0 27 12 30.7692 IDH3B 0 genome.wustl.edu 37 20 2639164 2639164 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 2639164 2639164 C T SNP IDH3B ENST00000380851 human ensembl 74_37 -1 known missense c.1076 p.R359Q 1.000 pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD - no_errors IDH3B HGNC ENSG00000101365 40 0 0 15 11 42.3077 PTPRA 0 genome.wustl.edu 37 20 2967446 2967446 + Missense_Mutation SNP T T A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 2967446 2967446 T A SNP PTPRA ENST00000425918 human ensembl 74_37 +1 known missense c.511 p.S171T 1.000 pirsf_Tyr_Pase_rcpt_a/e-type pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRA HGNC ENSG00000132670 89 0 0 49 9 15.5172 TM9SF4 0 genome.wustl.edu 37 20 30745748 30745748 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 30745748 30745748 G A SNP TM9SF4 ENST00000398022 human ensembl 74_37 +1 known missense c.1481 p.R494Q 1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF4 HGNC ENSG00000101337 110 0 0 66 42 38.8889 DNMT3B 0 genome.wustl.edu 37 20 31387079 31387079 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 31387079 31387079 C T SNP DNMT3B ENST00000328111 human ensembl 74_37 +1 known silent c.1704 p.P568 0.053 NULL pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom - no_errors DNMT3B HGNC ENSG00000088305 40 0 0 13 5 27.7778 BPIFA3 0 genome.wustl.edu 37 20 31812171 31812171 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 31812171 31812171 A G SNP BPIFA3 ENST00000375454 human ensembl 74_37 +1 known missense c.289 p.T97A 0.998 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom - no_errors BPIFA3 HGNC ENSG00000131059 109 1 0.909091 70 5 6.66667 BPIFB1 0 genome.wustl.edu 37 20 31891811 31891811 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 31891811 31891811 A G SNP BPIFB1 ENST00000253354 human ensembl 74_37 +1 known missense c.1188 p.I396M 0.117 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,pirsf_PLUNC_long_form pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,pirsf_PLUNC_long_form - no_errors BPIFB1 HGNC ENSG00000125999 172 0 0 93 5 5.10204 SLC4A11 0 genome.wustl.edu 37 20 3211287 3211287 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 3211287 3211287 C T SNP SLC4A11 ENST00000380059 human ensembl 74_37 -1 known missense c.1418 p.R473H 0.043 pfam_HCO3_transpt_C pfam_HCO3_transpt_C,pfam_PTS_EIIA_type-2_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk - no_errors SLC4A11 HGNC ENSG00000088836 107 0 0 75 47 38.5246 ZNF341 0 genome.wustl.edu 37 20 32379191 32379191 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 32379191 32379191 G A SNP ZNF341 ENST00000375200 human ensembl 74_37 +1 known silent c.2433 p.A811 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF341 HGNC ENSG00000131061 85 0 0 52 31 37.3494 C20orf194 0 genome.wustl.edu 37 20 3240189 3240189 + Missense_Mutation SNP A A C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 3240189 3240189 A C SNP C20orf194 ENST00000252032 human ensembl 74_37 -1 known missense c.2992 p.S998A 0.990 NULL NULL - no_errors C20orf194 HGNC ENSG00000088854 88 0 0 71 5 6.57895 ERGIC3 0 genome.wustl.edu 37 20 34130099 34130099 + Missense_Mutation SNP T T G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 34130099 34130099 T G SNP ERGIC3 ENST00000447986 human ensembl 74_37 +1 known missense c.116 p.L39R 1.000 NULL pfam_Erv_C - no_errors ERGIC3 HGNC ENSG00000125991 158 0 0 104 7 6.30631 ERGIC3 0 genome.wustl.edu 37 20 34144042 34144042 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 34144042 34144042 G T SNP ERGIC3 ENST00000447986 human ensembl 74_37 +1 known missense c.924 p.E308D 1.000 pfam_Erv_C pfam_Erv_C - no_errors ERGIC3 HGNC ENSG00000125991 93 0 0 70 21 23.0769 PHF20 0 genome.wustl.edu 37 20 34451082 34451082 + Nonsense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 34451082 34451082 C T SNP PHF20 ENST00000374012 human ensembl 74_37 +1 known nonsense c.568 p.R190* 0.998 pfam_DUF3776 pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_C2H2 - no_errors PHF20 HGNC ENSG00000025293 87 0 0 75 43 36.4407 EPB41L1 0 genome.wustl.edu 37 20 34761845 34761845 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 34761845 34761845 C A SNP EPB41L1 ENST00000338074 human ensembl 74_37 +1 known missense c.146 p.P49Q 0.000 pirsf_Band_41_protein pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB_dom,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L1 HGNC ENSG00000088367 37 0 0 22 10 31.25 DLGAP4 0 genome.wustl.edu 37 20 35155282 35155282 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 35155282 35155282 G A SNP DLGAP4 ENST00000339266 human ensembl 74_37 +1 known missense c.2827 p.D943N 1.000 pfam_GKAP pfam_GKAP - no_errors DLGAP4 HGNC ENSG00000080845 27 0 0 26 18 40.9091 SOGA1 0 genome.wustl.edu 37 20 35431359 35431359 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 35431359 35431359 C T SNP SOGA1 ENST00000237536 human ensembl 74_37 -1 known missense c.3239 p.R1080H 0.997 NULL pfam_SOGA - no_errors SOGA1 HGNC ENSG00000149639 14 0 0 4 6 60 RALGAPB 0 genome.wustl.edu 37 20 37179846 37179846 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 37179846 37179846 C T SNP RALGAPB ENST00000262879 human ensembl 74_37 +1 known missense c.3142 p.H1048Y 1.000 NULL superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPB HGNC ENSG00000170471 145 0 0 65 30 31.5789 SLC32A1 0 genome.wustl.edu 37 20 37353656 37353656 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 37353656 37353656 G A SNP SLC32A1 ENST00000217420 human ensembl 74_37 +1 known missense c.289 p.G97S 0.834 NULL pfam_AA_transpt_TM - no_errors SLC32A1 HGNC ENSG00000101438 107 0 0 90 38 29.6875 C20orf27 0 genome.wustl.edu 37 20 3736176 3736176 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 3736176 3736176 G A SNP C20orf27 ENST00000217195 human ensembl 74_37 -1 known missense c.316 p.R106C 0.076 NULL NULL - no_errors C20orf27 HGNC ENSG00000101220 60 0 0 34 19 35.8491 CENPB 0 genome.wustl.edu 37 20 3766612 3766612 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 3766612 3766612 G A SNP CENPB ENST00000379751 human ensembl 74_37 -1 known silent c.519 p.R173 0.064 NULL pfam_Centromere_CenpB_dimerisation,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors CENPB HGNC ENSG00000125817 17 0 0 12 10 45.4545 MAFB 0 genome.wustl.edu 37 20 39317075 39317075 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 39317075 39317075 G T SNP MAFB ENST00000373313 human ensembl 74_37 -1 known missense c.416 p.P139H 0.996 NULL pfam_bZIP_Maf,pfam_Maf_TF_N,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors MAFB HGNC ENSG00000204103 24 0 0 34 4 10.5263 CHD6 0 genome.wustl.edu 37 20 40080570 40080570 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 40080570 40080570 T C SNP CHD6 ENST00000373233 human ensembl 74_37 -1 known missense c.3419 p.Y1140C 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,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 CHD6 HGNC ENSG00000124177 140 0 0 65 33 33.6735 MYBL2 0 genome.wustl.edu 37 20 42338651 42338651 + Silent SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 42338651 42338651 G T SNP MYBL2 ENST00000217026 human ensembl 74_37 +1 known silent c.1554 p.T518 0.009 pfam_C-myb_C pfam_C-myb_C,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL2 HGNC ENSG00000101057 296 0 0 311 84 21.2658 JPH2 0 genome.wustl.edu 37 20 42744342 42744342 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 42744342 42744342 G A SNP JPH2 ENST00000372980 human ensembl 74_37 -1 known missense c.1973 p.A658V 0.355 pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH2 HGNC ENSG00000149596 77 0 0 57 13 18.5714 ADA 0 genome.wustl.edu 37 20 43249743 43249743 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 43249743 43249743 C T SNP ADA ENST00000372874 human ensembl 74_37 -1 known silent c.891 p.P297 0.000 pfam_A/AMP_deaminase_dom,tigrfam_Ado/ade_deaminase pfam_A/AMP_deaminase_dom,tigrfam_Ado/ade_deaminase - no_errors ADA HGNC ENSG00000196839 81 0 0 42 28 40 KCNS1 0 genome.wustl.edu 37 20 43727277 43727277 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 43727277 43727277 G A SNP KCNS1 ENST00000306117 human ensembl 74_37 -1 known missense c.136 p.R46W 0.998 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_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6 - no_errors KCNS1 HGNC ENSG00000124134 15 0 0 6 3 33.3333 ACOT8 0 genome.wustl.edu 37 20 44472181 44472181 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 44472181 44472181 C T SNP ACOT8 ENST00000217455 human ensembl 74_37 -1 known missense c.826 p.E276K 1.000 pfam_Acyl_CoA_thio_II_dom,tigrfam_Acyl_CoA_thio pfam_Acyl_CoA_thio_II_dom,tigrfam_Acyl_CoA_thio - no_errors ACOT8 HGNC ENSG00000101473 22 0 0 26 11 29.7297 MMP9 0 genome.wustl.edu 37 20 44642368 44642368 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 44642368 44642368 C T SNP MMP9 ENST00000372330 human ensembl 74_37 +1 known silent c.1683 p.P561 0.002 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 41 0 0 15 12 44.4444 SLC12A5 0 genome.wustl.edu 37 20 44676687 44676687 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 44676687 44676687 C T SNP SLC12A5 ENST00000454036 human ensembl 74_37 +1 known missense c.2044 p.R682C 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 26 0 0 11 8 42.1053 SLC12A5 0 genome.wustl.edu 37 20 44681755 44681755 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 44681755 44681755 G A SNP SLC12A5 ENST00000454036 human ensembl 74_37 +1 known missense c.2606 p.R869Q 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 52 0 0 38 11 22.449 ZNF334 0 genome.wustl.edu 37 20 45130773 45130773 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 45130773 45130773 T C SNP ZNF334 ENST00000347606 human ensembl 74_37 -1 known missense c.1205 p.E402G 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF334 HGNC ENSG00000198185 137 0 0 103 7 6.36364 STAU1 0 genome.wustl.edu 37 20 47741096 47741096 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 47741096 47741096 A G SNP STAU1 ENST00000371856 human ensembl 74_37 -1 known missense c.638 p.M213T 1.000 pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors STAU1 HGNC ENSG00000124214 92 0 0 68 21 23.5955 ZNFX1 0 genome.wustl.edu 37 20 47887624 47887624 + Missense_Mutation SNP T T A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 47887624 47887624 T A SNP ZNFX1 ENST00000371752 human ensembl 74_37 -1 known missense c.725 p.E242V 1.000 superfamily_ARM-type_fold superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_Znf_NFX1 - no_errors ZNFX1 HGNC ENSG00000124201 128 0 0 97 6 5.82524 SLC9A8 0 genome.wustl.edu 37 20 48472028 48472028 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 48472028 48472028 T C SNP SLC9A8 ENST00000417961 human ensembl 74_37 +1 known missense c.671 p.I224T 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A8 HGNC ENSG00000197818 140 0 0 57 25 30.4878 ATP9A 0 genome.wustl.edu 37 20 50313974 50313974 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 50313974 50313974 T C SNP ATP9A ENST00000338821 human ensembl 74_37 -1 known missense c.484 p.I162V 1.000 pfam_ATPase_P-typ_transduc_dom_A,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 ATP9A HGNC ENSG00000054793 192 0 0 124 8 6.06061 ZFP64 0 genome.wustl.edu 37 20 50769393 50769393 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 50769393 50769393 C T SNP ZFP64 ENST00000216923 human ensembl 74_37 -1 known silent c.1338 p.Q446 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP64 HGNC ENSG00000020256 74 0 0 43 25 36.7647 ZNF217 0 genome.wustl.edu 37 20 52199147 52199147 + Silent SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 52199147 52199147 G T SNP ZNF217 ENST00000302342 human ensembl 74_37 -1 known silent c.219 p.T73 0.999 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF217 HGNC ENSG00000171940 152 0 0 100 25 20 RTFDC1 0 genome.wustl.edu 37 20 55059189 55059189 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 55059189 55059189 G A SNP RTFDC1 ENST00000357348 human ensembl 74_37 +1 known missense c.511 p.G171S 1.000 pfam_Rtf2_RING-finger pfam_Rtf2_RING-finger - no_errors RTFDC1 HGNC ENSG00000022277 119 1 0.833333 54 32 37.2093 BMP7 0 genome.wustl.edu 37 20 55803316 55803316 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 55803316 55803316 C T SNP BMP7 ENST00000395863 human ensembl 74_37 -1 known missense c.580 p.V194I 0.997 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP7 HGNC ENSG00000101144 212 0 0 169 11 6.11111 NPEPL1 0 genome.wustl.edu 37 20 57290264 57290264 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 57290264 57290264 C T SNP NPEPL1 ENST00000356091 human ensembl 74_37 +1 known missense c.1454 p.A485V 1.000 NULL pfam_Peptidase_M17_C,prints_Leucine_aapep/pepB - no_errors NPEPL1 HGNC ENSG00000215440 15 0 0 13 6 31.5789 TRMT6 0 genome.wustl.edu 37 20 5925451 5925451 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 5925451 5925451 C A SNP TRMT6 ENST00000203001 human ensembl 74_37 -1 known missense c.366 p.E122D 1.000 pfam_EIF3_gamma,pirsf_tRNA_m1A_mtfrase pfam_EIF3_gamma,pirsf_tRNA_m1A_mtfrase - no_errors TRMT6 HGNC ENSG00000089195 73 0 0 51 8 13.5593 ADRM1 0 genome.wustl.edu 37 20 60881312 60881312 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 60881312 60881312 C T SNP ADRM1 ENST00000253003 human ensembl 74_37 +1 known silent c.390 p.N130 1.000 pfam_26S_Psome_Ubiquitin-recp_Rpn13 pfam_26S_Psome_Ubiquitin-recp_Rpn13 - no_errors ADRM1 HGNC ENSG00000130706 147 0 0 53 37 41.1111 CABLES2 0 genome.wustl.edu 37 20 60966352 60966352 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 60966352 60966352 T C SNP CABLES2 ENST00000279101 human ensembl 74_37 -1 known missense c.1249 p.K417E 1.000 pfam_Cyclin_N,superfamily_Cyclin-like,pirsf_Cdk5/c-Abl_linker_Cables pfam_Cyclin_N,superfamily_Cyclin-like,pirsf_Cdk5/c-Abl_linker_Cables - no_errors CABLES2 HGNC ENSG00000149679 119 0 0 126 34 21.25 OGFR 0 genome.wustl.edu 37 20 61443861 61443861 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 61443861 61443861 C T SNP OGFR ENST00000290291 human ensembl 74_37 +1 known silent c.894 p.S298 0.000 NULL pfam_OGF_rcpt,pfam_OGF_rcpt_rpt - no_errors OGFR HGNC ENSG00000060491 12 0 0 15 3 16.6667 DIDO1 0 genome.wustl.edu 37 20 61526496 61526496 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 61526496 61526496 G A SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known missense c.2236 p.R746C 0.154 pfam_TFIIS_cen_dom,superfamily_TFIIS_cen_dom,smart_TFS2M pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 225 0 0 113 55 32.7381 PPDPF 0 genome.wustl.edu 37 20 62153137 62153137 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 62153137 62153137 T C SNP PPDPF ENST00000370177 human ensembl 74_37 +1 known missense c.328 p.S110P 0.003 NULL NULL - no_errors PPDPF HGNC ENSG00000125534 50 0 0 22 9 29.0323 PLCB4 0 genome.wustl.edu 37 20 9401986 9401986 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 9401986 9401986 T C SNP PLCB4 ENST00000334005 human ensembl 74_37 +1 known missense c.2161 p.Y721H 0.993 pirsf_PLC-beta,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB4 HGNC ENSG00000101333 75 0 0 38 10 20.8333 KRTAP24-1 0 genome.wustl.edu 37 21 31654782 31654782 + Missense_Mutation SNP A A C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 21 31654782 31654782 A C SNP KRTAP24-1 ENST00000340345 human ensembl 74_37 -1 known missense c.469 p.C157G 0.000 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP24-1 HGNC ENSG00000188694 176 0 0 118 8 6.34921 KRTAP26-1 0 genome.wustl.edu 37 21 31691941 31691941 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 21 31691941 31691941 C T SNP KRTAP26-1 ENST00000360542 human ensembl 74_37 -1 known missense c.413 p.C138Y 0.000 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP26-1 HGNC ENSG00000197683 263 0 0 155 96 38.247 KRTAP20-1 0 genome.wustl.edu 37 21 31988810 31988810 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 21 31988810 31988810 T C SNP KRTAP20-1 ENST00000334664 human ensembl 74_37 +1 known missense c.37 p.Y13H 0.007 pfam_KRTAP_type6/8/16/19/20 pfam_KRTAP_type6/8/16/19/20 - no_errors KRTAP20-1 HGNC ENSG00000244624 81 0 0 66 19 22.3529 KRTAP21-2 0 genome.wustl.edu 37 21 32119422 32119422 + Nonsense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 21 32119422 32119422 G T SNP KRTAP21-2 ENST00000333892 human ensembl 74_37 -1 known nonsense c.99 p.Y33* 0.002 pfam_KRTAP_type6/8/16/19/20 pfam_KRTAP_type6/8/16/19/20 - no_errors KRTAP21-2 HGNC ENSG00000187026 56 0 0 59 30 33.7079 DNAJC28 0 genome.wustl.edu 37 21 34861340 34861340 + Nonsense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 21 34861340 34861340 C A SNP DNAJC28 ENST00000314399 human ensembl 74_37 -1 known nonsense c.361 p.E121* 0.998 NULL pfam_DnaJ_homolog_subfam-C_membr-28,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC28 HGNC ENSG00000177692 68 0 0 55 6 9.83607 DOPEY2 0 genome.wustl.edu 37 21 37617711 37617711 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 21 37617711 37617711 T C SNP DOPEY2 ENST00000399151 human ensembl 74_37 +1 known missense c.3433 p.C1145R 0.989 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 92 0 0 80 5 5.88235 DSCAM 0 genome.wustl.edu 37 21 41414452 41414452 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 21 41414452 41414452 C T SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known silent c.5532 p.S1844 0.217 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 156 0 0 75 52 40.9449 MX1 0 genome.wustl.edu 37 21 42824610 42824610 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 21 42824610 42824610 C T SNP MX1 ENST00000398598 human ensembl 74_37 +1 known silent c.1572 p.H524 1.000 pfam_Dynamin_central,superfamily_P-loop_NTPase pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_GED,prints_Dynamin_SF - no_errors MX1 HGNC ENSG00000157601 143 0 0 84 52 38.2353 RIPK4 0 genome.wustl.edu 37 21 43161183 43161183 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 21 43161183 43161183 T C SNP RIPK4 ENST00000352483 human ensembl 74_37 -1 known missense c.2314 p.S772G 0.525 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_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,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK4 HGNC ENSG00000183421 118 0 0 127 13 9.28571 CBS 0 genome.wustl.edu 37 21 44484071 44484071 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 21 44484071 44484071 C T SNP CBS ENST00000398168 human ensembl 74_37 -1 known missense c.767 p.G256D 1.000 pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Cysta_beta_synth pfam_Trp_syn_b_sub_like_PLP_eny_SF,pfam_CBS_dom,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,smart_CBS_dom,tigrfam_Cysta_beta_synth - no_errors CBS HGNC ENSG00000160200 26 0 0 7 5 41.6667 PWP2 0 genome.wustl.edu 37 21 45540377 45540377 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 21 45540377 45540377 G T SNP PWP2 ENST00000291576 human ensembl 74_37 +1 known missense c.1337 p.R446M 1.000 superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PWP2 HGNC ENSG00000241945 234 0 0 119 72 37.6963 KRTAP10-6 0 genome.wustl.edu 37 21 46011355 46011355 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 21 46011355 46011355 C T SNP KRTAP10-6 ENST00000400368 human ensembl 74_37 -1 known silent c.1011 p.T337 0.001 NULL NULL - no_errors KRTAP10-6 HGNC ENSG00000188155 103 0 0 133 10 6.99301 KRTAP10-12 0 genome.wustl.edu 37 21 46117397 46117397 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 21 46117397 46117397 G A SNP KRTAP10-12 ENST00000400365 human ensembl 74_37 +1 known missense c.281 p.C94Y 0.641 NULL NULL - no_errors KRTAP10-12 HGNC ENSG00000189169 225 0 0 282 34 10.7595 UBE2G2 0 genome.wustl.edu 37 21 46207833 46207833 + Splice_Site SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 21 46207833 46207833 A G SNP UBE2G2 ENST00000345496 human ensembl 74_37 -1 known splice_site c.125+2 e3+2 0.999 - - - no_errors UBE2G2 HGNC ENSG00000184787 29 0 0 15 6 28.5714 PCBP3 0 genome.wustl.edu 37 21 47361676 47361676 + RNA SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 21 47361676 47361676 G A SNP PCBP3 ENST00000475402 human ensembl 74_37 +1 known rna NULL NULL 0.988 - - - no_errors PCBP3 HGNC ENSG00000183570 54 0 0 32 3 8.57143 COL6A2 0 genome.wustl.edu 37 21 47532203 47532203 + Silent SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 21 47532203 47532203 G T SNP COL6A2 ENST00000300527 human ensembl 74_37 +1 known silent c.426 p.T142 0.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 54 0 0 41 13 24.0741 SPATC1L 0 genome.wustl.edu 37 21 47581388 47581388 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 21 47581388 47581388 C T SNP SPATC1L ENST00000291672 human ensembl 74_37 -1 known missense c.928 p.V310M 0.101 NULL NULL - no_errors SPATC1L HGNC ENSG00000160284 25 0 0 14 6 30 DIP2A 0 genome.wustl.edu 37 21 47966845 47966845 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 21 47966845 47966845 C T SNP DIP2A ENST00000318711 human ensembl 74_37 +1 known silent c.2415 p.I805 0.997 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2A HGNC ENSG00000160305 45 0 0 28 8 22.2222 ZNF74 0 genome.wustl.edu 37 22 20759744 20759744 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 20759744 20759744 C T SNP ZNF74 ENST00000356671 human ensembl 74_37 +1 known missense c.421 p.R141W 0.001 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 ZNF74 HGNC ENSG00000185252 63 0 0 56 36 39.1304 ZNF74 0 genome.wustl.edu 37 22 20760486 20760486 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 20760486 20760486 A G SNP ZNF74 ENST00000356671 human ensembl 74_37 +1 known missense c.1163 p.Y388C 0.442 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 ZNF74 HGNC ENSG00000185252 91 0 0 81 25 23.5849 KLHL22 0 genome.wustl.edu 37 22 20819706 20819706 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 20819706 20819706 C T SNP KLHL22 ENST00000328879 human ensembl 74_37 -1 known missense c.551 p.R184Q 0.986 pfam_BACK,smart_BACK,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 99 0 0 57 41 41.8367 PI4KA 0 genome.wustl.edu 37 22 21064993 21064993 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 21064993 21064993 G A SNP PI4KA ENST00000255882 human ensembl 74_37 -1 known missense c.6077 p.A2026V 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 120 1 0.826446 90 5 5.26316 PI4KA 0 genome.wustl.edu 37 22 21098980 21098980 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 21098980 21098980 C T SNP PI4KA ENST00000255882 human ensembl 74_37 -1 known missense c.3392 p.C1131Y 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 79 0 0 45 20 30.7692 VPREB1 0 genome.wustl.edu 37 22 22599237 22599237 + Missense_Mutation SNP T T A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 22599237 22599237 T A SNP VPREB1 ENST00000302273 human ensembl 74_37 +1 novel missense c.23 p.L8H 0.008 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors VPREB1 HGNC ENSG00000169575 76 0 0 48 25 34.2466 SUSD2 0 genome.wustl.edu 37 22 24581989 24581989 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 24581989 24581989 G A SNP SUSD2 ENST00000358321 human ensembl 74_37 +1 known missense c.1345 p.A449T 0.960 pfam_VWF_type-D,smart_VWF_type-D pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Sushi_SCR_CCP,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD2 HGNC ENSG00000099994 31 0 0 19 3 13.6364 SPECC1L 0 genome.wustl.edu 37 22 24759282 24759282 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 24759282 24759282 C T SNP SPECC1L ENST00000314328 human ensembl 74_37 +1 known missense c.2797 p.P933S 0.976 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_bHLH_dom,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1L HGNC ENSG00000100014 70 0 0 38 17 30.9091 TFIP11 0 genome.wustl.edu 37 22 26890245 26890245 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 26890245 26890245 C T SNP TFIP11 ENST00000405938 human ensembl 74_37 -1 known missense c.2018 p.S673N 1.000 NULL pfam_GCFC_dom,pfam_TIP_N,pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors TFIP11 HGNC ENSG00000100109 100 0 0 48 11 18.6441 CRYBA4 0 genome.wustl.edu 37 22 27019233 27019233 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 27019233 27019233 G A SNP CRYBA4 ENST00000354760 human ensembl 74_37 +1 known silent c.75 p.R25 0.994 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBA4 HGNC ENSG00000196431 165 0 0 142 10 6.57895 EWSR1 0 genome.wustl.edu 37 22 29694762 29694762 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 29694762 29694762 G A SNP EWSR1 ENST00000414183 human ensembl 74_37 +1 known missense c.1472 p.R491H 1.000 NULL pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors EWSR1 HGNC ENSG00000182944 158 0 0 81 51 38.6364 AP1B1 0 genome.wustl.edu 37 22 29759048 29759048 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 29759048 29759048 T C SNP AP1B1 ENST00000357586 human ensembl 74_37 -1 known missense c.85 p.K29E 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4 - no_errors AP1B1 HGNC ENSG00000100280 192 0 0 153 13 7.83133 GAL3ST1 0 genome.wustl.edu 37 22 30951410 30951410 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 30951410 30951410 A G SNP GAL3ST1 ENST00000338911 human ensembl 74_37 -1 known missense c.802 p.W268R 1.000 pfam_Gal-3-0_sulfotransfrase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST1 HGNC ENSG00000128242 151 0 0 135 36 21.0526 SMTN 0 genome.wustl.edu 37 22 31487145 31487145 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 31487145 31487145 G A SNP SMTN ENST00000347557 human ensembl 74_37 +1 known missense c.1136 p.S379N 0.107 NULL pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTN HGNC ENSG00000183963 59 0 0 39 27 40.9091 PATZ1 0 genome.wustl.edu 37 22 31741294 31741294 + Missense_Mutation SNP C C G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 31741294 31741294 C G SNP PATZ1 ENST00000266269 human ensembl 74_37 -1 known missense c.295 p.G99R 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like 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 PATZ1 HGNC ENSG00000100105 53 0 0 65 8 10.9589 LARGE 0 genome.wustl.edu 37 22 33670583 33670583 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 33670583 33670583 C T SNP LARGE ENST00000354992 human ensembl 74_37 -1 known missense c.2101 p.A701T 1.000 NULL pfam_Glyco_trans_8 - no_errors LARGE HGNC ENSG00000133424 82 0 0 74 5 6.32911 LARGE 0 genome.wustl.edu 37 22 34157424 34157424 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 34157424 34157424 C T SNP LARGE ENST00000354992 human ensembl 74_37 -1 known missense c.40 p.A14T 1.000 NULL pfam_Glyco_trans_8 - no_errors LARGE HGNC ENSG00000133424 125 0 0 60 26 30.2326 MYH9 0 genome.wustl.edu 37 22 36680499 36680499 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 36680499 36680499 G A SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known silent c.5542 p.L1848 0.000 pfam_Myosin_tail,superfamily_Regulat_G_prot_signal_superfam pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 86 0 0 90 7 7.21649 NCF4 0 genome.wustl.edu 37 22 37260993 37260993 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 37260993 37260993 A G SNP NCF4 ENST00000397147 human ensembl 74_37 +1 known silent c.150 p.G50 0.004 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain,prints_NCF_P40,prints_p67phox - no_errors NCF4 HGNC ENSG00000100365 117 0 0 39 23 37.0968 ELFN2 0 genome.wustl.edu 37 22 37770940 37770940 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 37770940 37770940 C T SNP ELFN2 ENST00000402918 human ensembl 74_37 -1 known missense c.635 p.R212H 1.000 NULL superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG_anchor - no_errors ELFN2 HGNC ENSG00000166897 43 0 0 24 18 42.8571 GCAT 0 genome.wustl.edu 37 22 38211780 38211780 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 38211780 38211780 G A SNP GCAT ENST00000248924 human ensembl 74_37 +1 known missense c.925 p.A309T 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,tigrfam_2am3keto_CoA_ligase pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,tigrfam_2am3keto_CoA_ligase - no_errors GCAT HGNC ENSG00000100116 251 0 0 130 83 38.9671 ANKRD54 0 genome.wustl.edu 37 22 38234581 38234581 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 38234581 38234581 G A SNP ANKRD54 ENST00000215941 human ensembl 74_37 -1 known missense c.401 p.A134V 0.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD54 HGNC ENSG00000100124 23 0 0 10 5 33.3333 KCNJ4 0 genome.wustl.edu 37 22 38823103 38823103 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 38823103 38823103 C T SNP KCNJ4 ENST00000303592 human ensembl 74_37 -1 known silent c.1035 p.T345 0.993 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.3 - no_errors KCNJ4 HGNC ENSG00000168135 49 0 0 27 13 32.5 KDELR3 0 genome.wustl.edu 37 22 38875728 38875728 + Missense_Mutation SNP T T G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 38875728 38875728 T G SNP KDELR3 ENST00000409006 human ensembl 74_37 +1 known missense c.323 p.L108R 1.000 pfam_ER_ret_rcpt,superfamily_Cyt_c_oxidase_su2_TM_dom pfam_ER_ret_rcpt,superfamily_Cyt_c_oxidase_su2_TM_dom,prints_ER_ret_rcpt - no_errors KDELR3 HGNC ENSG00000100196 306 0 0 199 13 6.13208 MGAT3 0 genome.wustl.edu 37 22 39884006 39884006 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 39884006 39884006 C T SNP MGAT3 ENST00000341184 human ensembl 74_37 +1 known silent c.654 p.F218 1.000 pfam_Glyco_trans_17 pfam_Glyco_trans_17 - no_errors MGAT3 HGNC ENSG00000128268 46 0 0 24 12 33.3333 TNRC6B 0 genome.wustl.edu 37 22 40658006 40658006 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 40658006 40658006 C T SNP TNRC6B ENST00000454349 human ensembl 74_37 +1 known missense c.286 p.R96C 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6B HGNC ENSG00000100354 31 0 0 30 7 18.9189 TNRC6B 0 genome.wustl.edu 37 22 40681739 40681739 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 40681739 40681739 C T SNP TNRC6B ENST00000454349 human ensembl 74_37 +1 known missense c.3673 p.R1225W 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6B HGNC ENSG00000100354 187 1 0.531915 89 49 35.5072 EP300 0 genome.wustl.edu 37 22 41574595 41574595 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 41574595 41574595 C A SNP EP300 ENST00000263253 human ensembl 74_37 +1 known missense c.6880 p.L2294I 0.998 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 90 0 0 101 6 5.60748 RANGAP1 0 genome.wustl.edu 37 22 41652064 41652064 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 41652064 41652064 A G SNP RANGAP1 ENST00000356244 human ensembl 74_37 -1 known missense c.1034 p.L345P 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Ran_GTPase_activating_1_C,superfamily_Ran_GTPase_activating_1_C,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RANGAP1 HGNC ENSG00000100401 53 0 0 34 17 33.3333 ACO2 0 genome.wustl.edu 37 22 41865263 41865263 + RNA SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 41865263 41865263 G A SNP ACO2 ENST00000471094 human ensembl 74_37 +1 putative rna NULL NULL 0.286 - - - no_errors ACO2 HGNC ENSG00000100412 51 0 0 35 18 33.9623 TCF20 0 genome.wustl.edu 37 22 42610384 42610384 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 42610384 42610384 G T SNP TCF20 ENST00000359486 human ensembl 74_37 -1 known missense c.928 p.Q310K 1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 113 0 0 66 33 33.3333 RRP7B 0 genome.wustl.edu 37 22 42969930 42969930 + RNA SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 42969930 42969930 T C SNP RRP7B ENST00000458605 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RRP7B HGNC ENSG00000182841 191 0 0 161 40 19.9005 CYB5R3 0 genome.wustl.edu 37 22 43024235 43024235 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 43024235 43024235 T C SNP CYB5R3 ENST00000361740 human ensembl 74_37 -1 known missense c.485 p.Q162R 1.000 pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase - no_errors CYB5R3 HGNC ENSG00000100243 241 0 0 207 12 5.47945 KIAA0930 0 genome.wustl.edu 37 22 45599792 45599792 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 45599792 45599792 C T SNP KIAA0930 ENST00000251993 human ensembl 74_37 -1 known silent c.606 p.T202 0.967 pfam_DUF2045 pfam_DUF2045 - no_errors KIAA0930 HGNC ENSG00000100364 71 0 0 49 30 37.9747 FAM118A 0 genome.wustl.edu 37 22 45719132 45719132 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 45719132 45719132 G A SNP FAM118A ENST00000216214 human ensembl 74_37 +1 known missense c.124 p.V42M 1.000 NULL superfamily_RNaseH-like_dom - no_errors FAM118A HGNC ENSG00000100376 97 0 0 68 5 6.84932 SMC1B 0 genome.wustl.edu 37 22 45809407 45809407 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 45809407 45809407 C T SNP SMC1B ENST00000357450 human ensembl 74_37 -1 known silent c.42 p.S14 0.957 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_t-SNARE,smart_SMC_hinge - no_errors SMC1B HGNC ENSG00000077935 23 0 0 19 5 20.8333 ZBED4 0 genome.wustl.edu 37 22 50277809 50277809 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 50277809 50277809 A G SNP ZBED4 ENST00000216268 human ensembl 74_37 +1 known missense c.499 p.T167A 0.555 smart_Znf_BED_prd,pfscan_Znf_BED_prd pfam_Znf_BED_prd,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED4 HGNC ENSG00000100426 72 0 0 59 26 30.5882 ZBED4 0 genome.wustl.edu 37 22 50280192 50280192 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 50280192 50280192 T C SNP ZBED4 ENST00000216268 human ensembl 74_37 +1 known missense c.2882 p.V961A 1.000 superfamily_RNaseH-like_dom pfam_Znf_BED_prd,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED4 HGNC ENSG00000100426 42 0 0 34 2 5.55556 CRELD2 0 genome.wustl.edu 37 22 50312881 50312881 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 50312881 50312881 A G SNP CRELD2 ENST00000404488 human ensembl 74_37 +1 known missense c.133 p.M45V 0.369 pfam_DUF3456 pfam_DUF3456,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_Furin_repeat,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors CRELD2 HGNC ENSG00000184164 116 0 0 75 23 23.4694 TUBGCP6 0 genome.wustl.edu 37 22 50659439 50659439 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 50659439 50659439 C T SNP TUBGCP6 ENST00000248846 human ensembl 74_37 -1 known missense c.3349 p.V1117I 0.050 pfam_TUBGCP pfam_TUBGCP - no_errors TUBGCP6 HGNC ENSG00000128159 290 0 0 235 13 5.24194 PPP6R2 0 genome.wustl.edu 37 22 50875968 50875968 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 50875968 50875968 G A SNP PPP6R2 ENST00000216061 human ensembl 74_37 +1 known missense c.1717 p.A573T 0.990 NULL pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R2 HGNC ENSG00000100239 61 0 0 38 13 25.4902 PPP6R2 0 genome.wustl.edu 37 22 50879229 50879229 + Splice_Site SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 50879229 50879229 G A SNP PPP6R2 ENST00000216061 human ensembl 74_37 +1 known splice_site c.2375-1 e20-1 0.000 - - - no_errors PPP6R2 HGNC ENSG00000100239 103 0 0 110 8 6.77966 ARSA 0 genome.wustl.edu 37 22 51065609 51065609 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 51065609 51065609 C T SNP ARSA ENST00000216124 human ensembl 74_37 -1 known silent c.450 p.P150 0.052 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSA HGNC ENSG00000100299 43 0 0 26 11 29.7297 TBC1D23 0 genome.wustl.edu 37 3 100029334 100029334 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 100029334 100029334 G A SNP TBC1D23 ENST00000394144 human ensembl 74_37 +1 known missense c.1501 p.V501I 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_Rhodanese-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Rhodanese-like_dom - no_errors TBC1D23 HGNC ENSG00000036054 57 0 0 26 14 35 GPR128 0 genome.wustl.edu 37 3 100354440 100354440 + RNA SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 100354440 100354440 G A SNP GPR128 ENST00000481361 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GPR128 HGNC ENSG00000144820 27 0 0 16 4 20 ATP2B2 0 genome.wustl.edu 37 3 10426972 10426972 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 10426972 10426972 G A SNP ATP2B2 ENST00000352432 human ensembl 74_37 -1 known missense c.980 p.A327V 1.000 pfam_ATPase_P-typ_transduc_dom_A pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_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_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B2 HGNC ENSG00000157087 65 0 0 28 15 34.8837 BBX 0 genome.wustl.edu 37 3 107491997 107491997 + Nonsense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 107491997 107491997 C T SNP BBX ENST00000325805 human ensembl 74_37 +1 known nonsense c.1429 p.Q477* 1.000 NULL pfam_TF_HMG_box_BBX_DUF2028,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors BBX HGNC ENSG00000114439 101 0 0 67 35 34.3137 SLC9C1 0 genome.wustl.edu 37 3 111898417 111898417 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 111898417 111898417 T C SNP SLC9C1 ENST00000305815 human ensembl 74_37 -1 known silent c.2880 p.E960 0.144 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C1 HGNC ENSG00000172139 70 0 0 30 18 37.5 CCDC80 0 genome.wustl.edu 37 3 112357464 112357464 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 112357464 112357464 G A SNP CCDC80 ENST00000206423 human ensembl 74_37 -1 known missense c.1289 p.T430I 0.963 NULL NULL - no_errors CCDC80 HGNC ENSG00000091986 95 0 0 70 5 6.66667 SIDT1 0 genome.wustl.edu 37 3 113300284 113300284 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 113300284 113300284 C T SNP SIDT1 ENST00000393830 human ensembl 74_37 +1 known missense c.740 p.T247M 1.000 NULL NULL - no_errors SIDT1 HGNC ENSG00000072858 81 0 0 38 23 37.7049 IGSF11 0 genome.wustl.edu 37 3 118621466 118621466 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 118621466 118621466 T C SNP IGSF11 ENST00000393775 human ensembl 74_37 -1 known silent c.1197 p.P399 0.009 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF11 HGNC ENSG00000144847 106 0 0 79 9 10.2273 POPDC2 0 genome.wustl.edu 37 3 119367156 119367156 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 119367156 119367156 A G SNP POPDC2 ENST00000341124 human ensembl 74_37 -1 known silent c.960 p.P320 0.000 NULL pfam_Popeye_prot,superfamily_cNMP-bd-like - no_errors POPDC2 HGNC ENSG00000121577 57 0 0 33 10 23.2558 MAATS1 0 genome.wustl.edu 37 3 119445068 119445068 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 119445068 119445068 C T SNP MAATS1 ENST00000273390 human ensembl 74_37 +1 known missense c.733 p.R245C 0.999 NULL superfamily_S-AdoMet_deCO2ase_core - no_errors MAATS1 HGNC ENSG00000183833 32 0 0 18 13 41.9355 GSK3B 0 genome.wustl.edu 37 3 119562108 119562108 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 119562108 119562108 C T SNP GSK3B ENST00000316626 human ensembl 74_37 -1 known missense c.1228 p.A410T 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 GSK3B HGNC ENSG00000082701 89 0 0 40 15 27.2727 STXBP5L 0 genome.wustl.edu 37 3 121097669 121097669 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 121097669 121097669 A G SNP STXBP5L ENST00000273666 human ensembl 74_37 +1 known silent c.2355 p.R785 1.000 NULL pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5L HGNC ENSG00000145087 68 0 0 26 11 29.7297 GOLGB1 0 genome.wustl.edu 37 3 121395738 121395738 + Splice_Site SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 121395738 121395738 A G SNP GOLGB1 ENST00000340645 human ensembl 74_37 -1 known splice_site c.9162+2 e16+2 0.993 - - - no_errors GOLGB1 HGNC ENSG00000173230 58 0 0 32 10 23.8095 ADCY5 0 genome.wustl.edu 37 3 123010074 123010074 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 123010074 123010074 C T SNP ADCY5 ENST00000462833 human ensembl 74_37 -1 known silent c.3213 p.A1071 0.374 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_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 ADCY5 HGNC ENSG00000173175 111 0 0 70 40 36.3636 MCM2 0 genome.wustl.edu 37 3 127335861 127335861 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 127335861 127335861 C T SNP MCM2 ENST00000265056 human ensembl 74_37 +1 known missense c.1673 p.A558V 0.999 pfam_MCM_DNA-dep_ATPase,pfam_ATPase_AAA-3,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_MCM2,pfam_Mg_chelatse_chII,pfam_ATPase_AAA-3,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM2,prints_MCM_DNA-dep_ATPase - no_errors MCM2 HGNC ENSG00000073111 194 0 0 120 11 8.39695 ABTB1 0 genome.wustl.edu 37 3 127395216 127395216 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 127395216 127395216 C T SNP ABTB1 ENST00000232744 human ensembl 74_37 +1 known missense c.422 p.A141V 0.992 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors ABTB1 HGNC ENSG00000114626 112 0 0 62 48 43.6364 PLXND1 0 genome.wustl.edu 37 3 129308232 129308232 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 129308232 129308232 C A SNP PLXND1 ENST00000324093 human ensembl 74_37 -1 known missense c.1450 p.A484S 0.781 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,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 PLXND1 HGNC ENSG00000004399 54 0 0 25 4 13.7931 IQSEC1 0 genome.wustl.edu 37 3 12977083 12977083 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 12977083 12977083 C T SNP IQSEC1 ENST00000273221 human ensembl 74_37 -1 known missense c.1475 p.R492H 0.949 NULL pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC1 HGNC ENSG00000144711 172 0 0 58 39 40.2062 PIK3R4 0 genome.wustl.edu 37 3 130425790 130425790 + Splice_Site SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 130425790 130425790 A G SNP PIK3R4 ENST00000356763 human ensembl 74_37 -1 known splice_site c.2721+2 e10+2 1.000 - - - no_errors PIK3R4 HGNC ENSG00000196455 38 0 0 41 3 6.81818 TOPBP1 0 genome.wustl.edu 37 3 133358955 133358955 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 133358955 133358955 T C SNP TOPBP1 ENST00000260810 human ensembl 74_37 -1 known missense c.2081 p.H694R 1.000 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TOPBP1 HGNC ENSG00000163781 49 0 0 18 9 33.3333 FOXL2 0 genome.wustl.edu 37 3 138665127 138665127 + Silent SNP G G C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 138665127 138665127 G C SNP FOXL2 ENST00000330315 human ensembl 74_37 -1 known silent c.438 p.R146 0.986 pfam_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXL2 HGNC ENSG00000183770 24 0 0 25 4 13.7931 ZBTB38 0 genome.wustl.edu 37 3 141162564 141162564 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 141162564 141162564 C A SNP ZBTB38 ENST00000321464 human ensembl 74_37 +1 known missense c.1337 p.P446Q 0.997 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 ZBTB38 HGNC ENSG00000177311 61 0 0 33 22 40 ATR 0 genome.wustl.edu 37 3 142243013 142243013 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 142243013 142243013 C T SNP ATR ENST00000350721 human ensembl 74_37 -1 known missense c.3974 p.S1325N 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 65 0 0 56 5 8.19672 TRPC1 0 genome.wustl.edu 37 3 142443573 142443573 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 142443573 142443573 G A SNP TRPC1 ENST00000476941 human ensembl 74_37 +1 known missense c.172 p.G58S 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,tigrfam_TRP_channel pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC1 HGNC ENSG00000144935 78 0 0 31 24 43.6364 U2SURP 0 genome.wustl.edu 37 3 142773863 142773863 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 142773863 142773863 G A SNP U2SURP ENST00000473835 human ensembl 74_37 +1 known silent c.2853 p.S951 0.967 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 19 0 0 9 9 50 PLOD2 0 genome.wustl.edu 37 3 145822125 145822125 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 145822125 145822125 G T SNP PLOD2 ENST00000282903 human ensembl 74_37 -1 known missense c.620 p.A207D 0.811 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD2 HGNC ENSG00000152952 54 0 0 26 4 13.3333 HPS3 0 genome.wustl.edu 37 3 148859112 148859112 + Silent SNP C C G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 148859112 148859112 C G SNP HPS3 ENST00000296051 human ensembl 74_37 +1 known silent c.915 p.V305 0.001 pirsf_HPS3 pirsf_HPS3 - no_errors HPS3 HGNC ENSG00000163755 145 0 0 88 30 25.4237 IGSF10 0 genome.wustl.edu 37 3 151163494 151163494 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 151163494 151163494 G A SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known silent c.4275 p.A1425 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 164 0 0 84 35 29.4118 EAF1 0 genome.wustl.edu 37 3 15477988 15477988 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 15477988 15477988 G A SNP EAF1 ENST00000396842 human ensembl 74_37 +1 known silent c.666 p.P222 0.000 NULL pfam_Tscrpt_elong_fac_Eaf_N - no_errors EAF1 HGNC ENSG00000144597 81 0 0 62 5 7.46269 KCNAB1 0 genome.wustl.edu 37 3 156241698 156241698 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 156241698 156241698 C T SNP KCNAB1 ENST00000490337 human ensembl 74_37 +1 known missense c.1043 p.A348V 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB - no_errors KCNAB1 HGNC ENSG00000169282 82 0 0 54 29 34.9398 PTX3 0 genome.wustl.edu 37 3 157155313 157155313 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 157155313 157155313 G A SNP PTX3 ENST00000295927 human ensembl 74_37 +1 known missense c.142 p.A48T 1.000 NULL pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_LamG-like,prints_Pentaxin - no_errors PTX3 HGNC ENSG00000163661 15 0 0 16 5 23.8095 SMC4 0 genome.wustl.edu 37 3 160132281 160132281 + Missense_Mutation SNP A A C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 160132281 160132281 A C SNP SMC4 ENST00000344722 human ensembl 74_37 +1 known missense c.1248 p.K416N 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC ENSG00000113810 34 0 0 16 6 27.2727 MECOM 0 genome.wustl.edu 37 3 168838939 168838939 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 168838939 168838939 C T SNP MECOM ENST00000494292 human ensembl 74_37 -1 known missense c.1037 p.R346Q 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors MECOM HGNC ENSG00000085276 66 0 0 29 16 35.5556 TNIK 0 genome.wustl.edu 37 3 170784061 170784061 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 170784061 170784061 C T SNP TNIK ENST00000436636 human ensembl 74_37 -1 known missense c.3914 p.R1305Q 1.000 pfam_Citron,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 62 0 0 30 17 36.1702 MFN1 0 genome.wustl.edu 37 3 179095137 179095137 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 179095137 179095137 A G SNP MFN1 ENST00000357390 human ensembl 74_37 +1 known missense c.1103 p.H368R 0.058 NULL pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors MFN1 HGNC ENSG00000171109 90 0 0 27 9 25 MCF2L2 0 genome.wustl.edu 37 3 182925470 182925470 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 182925470 182925470 C A SNP MCF2L2 ENST00000328913 human ensembl 74_37 -1 known missense c.2638 p.V880L 0.628 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 MCF2L2 HGNC ENSG00000053524 108 0 0 50 19 27.5362 ABCC5 0 genome.wustl.edu 37 3 183660654 183660654 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 183660654 183660654 A G SNP ABCC5 ENST00000334444 human ensembl 74_37 -1 known silent c.3555 p.P1185 0.952 superfamily_P-loop_NTPase 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 - no_errors ABCC5 HGNC ENSG00000114770 103 0 0 57 12 17.3913 DVL3 0 genome.wustl.edu 37 3 183888273 183888273 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 183888273 183888273 G A SNP DVL3 ENST00000313143 human ensembl 74_37 +1 known silent c.1881 p.P627 0.600 pfam_Dishevelled_C-dom pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam,prints_Dishevelled_3 - no_errors DVL3 HGNC ENSG00000161202 14 0 0 14 12 46.1538 PSMD2 0 genome.wustl.edu 37 3 184020266 184020266 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 184020266 184020266 G A SNP PSMD2 ENST00000310118 human ensembl 74_37 +1 known missense c.813 p.M271I 1.000 superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1 pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1 - no_errors PSMD2 HGNC ENSG00000175166 51 0 0 22 19 46.3415 CLCN2 0 genome.wustl.edu 37 3 184072024 184072024 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 184072024 184072024 G A SNP CLCN2 ENST00000265593 human ensembl 74_37 -1 known missense c.1586 p.A529V 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated 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 70 0 0 72 5 6.49351 DNAJB11 0 genome.wustl.edu 37 3 186299253 186299253 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 186299253 186299253 C T SNP DNAJB11 ENST00000265028 human ensembl 74_37 +1 known missense c.550 p.R184C 1.000 superfamily_HSP40/DnaJ_pept-bd pfam_DnaJ_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB11 HGNC ENSG00000090520 124 0 0 65 41 38.6792 KCNH8 0 genome.wustl.edu 37 3 19436626 19436626 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 19436626 19436626 C T SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known missense c.1000 p.R334C 0.969 pfam_Ion_trans_dom 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 168 0 0 51 31 37.8049 KCNH8 0 genome.wustl.edu 37 3 19479763 19479763 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 19479763 19479763 C A SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known missense c.1285 p.L429M 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG 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 137 0 0 91 40 30.5344 MUC4 0 genome.wustl.edu 37 3 195495938 195495938 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 195495938 195495938 T C SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.13484 p.D4495G 0.471 pfam_Nidogen_extracell_dom,smart_Nidogen_extracell_dom 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 38 0 0 32 4 11.1111 PAK2 0 genome.wustl.edu 37 3 196533500 196533500 + Missense_Mutation SNP T T G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 196533500 196533500 T G SNP PAK2 ENST00000327134 human ensembl 74_37 +1 known missense c.519 p.D173E 0.990 superfamily_WASP_C pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,superfamily_WASP_C,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK2 HGNC ENSG00000180370 83 0 0 52 17 24.6377 KAT2B 0 genome.wustl.edu 37 3 20167584 20167584 + Missense_Mutation SNP T T G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 20167584 20167584 T G SNP KAT2B ENST00000263754 human ensembl 74_37 +1 known missense c.1601 p.I534S 1.000 pirsf_Hist_acetylase_PCAF,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom - no_errors KAT2B HGNC ENSG00000114166 15 0 0 8 10 55.5556 CNTN4 0 genome.wustl.edu 37 3 3067808 3067808 + Silent SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 3067808 3067808 C A SNP CNTN4 ENST00000397461 human ensembl 74_37 +1 known silent c.1509 p.P503 0.870 pfam_Ig_I-set,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN4 HGNC ENSG00000144619 52 0 0 26 2 7.14286 OSBPL10 0 genome.wustl.edu 37 3 31705669 31705669 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 31705669 31705669 T C SNP OSBPL10 ENST00000396556 human ensembl 74_37 -1 known missense c.2152 p.T718A 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL10 HGNC ENSG00000144645 118 0 0 95 6 5.94059 GLB1 0 genome.wustl.edu 37 3 33038574 33038574 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 33038574 33038574 G A SNP GLB1 ENST00000445488 human ensembl 74_37 -1 known missense c.2141 p.P714L 0.044 NULL pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1 HGNC ENSG00000170266 110 0 0 54 35 39.3258 SCN5A 0 genome.wustl.edu 37 3 38640527 38640527 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 38640527 38640527 C A SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.1905 p.E635D 0.974 pfam_DUF3451,prints_Na_channel_a5su 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 45 0 0 29 14 32.5581 TTC21A 0 genome.wustl.edu 37 3 39175776 39175776 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 39175776 39175776 C T SNP TTC21A ENST00000301819 human ensembl 74_37 +1 known missense c.2843 p.A948V 0.070 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21A HGNC ENSG00000168026 249 0 0 173 10 5.46448 ZNF662 0 genome.wustl.edu 37 3 42956634 42956634 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 42956634 42956634 G A SNP ZNF662 ENST00000328199 human ensembl 74_37 +1 known missense c.1147 p.D383N 0.991 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 ZNF662 HGNC ENSG00000182983 95 0 0 63 5 7.35294 LARS2 0 genome.wustl.edu 37 3 45561788 45561788 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 45561788 45561788 G A SNP LARS2 ENST00000265537 human ensembl 74_37 +1 known silent c.2292 p.S764 0.062 pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Leu-tRNA-ligase_bac/mito pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Leu-tRNA-ligase_bac/mito,tigrfam_Leu-tRNA-ligase_bac/mito - no_errors LARS2 HGNC ENSG00000011376 81 0 0 31 22 41.5094 PTH1R 0 genome.wustl.edu 37 3 46940909 46940909 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 46940909 46940909 G T SNP PTH1R ENST00000313049 human ensembl 74_37 +1 known missense c.951 p.E317D 1.000 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_secretin-like,prints_GPCR_2_parathyroid_rcpt - no_errors PTH1R HGNC ENSG00000160801 58 0 0 24 21 46.6667 ITPR1 0 genome.wustl.edu 37 3 4709146 4709146 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 4709146 4709146 A G SNP ITPR1 ENST00000302640 human ensembl 74_37 +1 known missense c.1754 p.H585R 1.000 pfam_Ca-rel_channel,prints_InsP3_rcpt-bd pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 33 0 0 29 9 23.6842 SCAP 0 genome.wustl.edu 37 3 47462067 47462067 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 47462067 47462067 G A SNP SCAP ENST00000265565 human ensembl 74_37 -1 known missense c.1540 p.R514C 1.000 NULL pfam_Patched,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_SSD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SCAP HGNC ENSG00000114650 23 0 0 20 12 37.5 PLXNB1 0 genome.wustl.edu 37 3 48464342 48464342 + Silent SNP A A C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 48464342 48464342 A C SNP PLXNB1 ENST00000296440 human ensembl 74_37 -1 known silent c.1122 p.A374 0.943 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,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 PLXNB1 HGNC ENSG00000164050 82 0 0 38 15 28.3019 CELSR3 0 genome.wustl.edu 37 3 48691331 48691331 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 48691331 48691331 C T SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known missense c.5258 p.G1753D 0.939 pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom 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 127 0 0 123 8 6.10687 ARIH2 0 genome.wustl.edu 37 3 49012281 49012281 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 49012281 49012281 A G SNP ARIH2 ENST00000356401 human ensembl 74_37 +1 known missense c.920 p.N307S 1.000 pfam_Znf_C6HC,smart_Znf_C6HC,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors ARIH2 HGNC ENSG00000177479 114 0 0 92 6 6.12245 LAMB2 0 genome.wustl.edu 37 3 49159460 49159460 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 49159460 49159460 C T SNP LAMB2 ENST00000305544 human ensembl 74_37 -1 known missense c.4840 p.A1614T 1.000 NULL pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 87 0 0 83 16 16.1616 DAG1 0 genome.wustl.edu 37 3 49568926 49568926 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 49568926 49568926 A G SNP DAG1 ENST00000308775 human ensembl 74_37 +1 known missense c.982 p.T328A 1.000 NULL pfam_DAG1,superfamily_Alpha-dystroglycan_domain_2,superfamily_Cadherin-like,smart_Cadg - no_errors DAG1 HGNC ENSG00000173402 188 0 0 158 12 7.05882 BSN 0 genome.wustl.edu 37 3 49692496 49692496 + Missense_Mutation SNP A A T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 49692496 49692496 A T SNP BSN ENST00000296452 human ensembl 74_37 +1 known missense c.5507 p.E1836V 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 116 0 0 64 32 33.3333 MST1R 0 genome.wustl.edu 37 3 49936360 49936360 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 49936360 49936360 C T SNP MST1R ENST00000296474 human ensembl 74_37 -1 known silent c.1488 p.Q496 1.000 pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MST1R HGNC ENSG00000164078 114 0 0 122 8 6.15385 IFRD2 0 genome.wustl.edu 37 3 50325851 50325851 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 50325851 50325851 G A SNP IFRD2 ENST00000336089 human ensembl 74_37 -1 known missense c.1735 p.R579C 0.984 pfam_Interferon-rel_develop_reg_C pfam_Interferon-rel_develop_reg_N,pfam_Interferon-rel_develop_reg_C,superfamily_ARM-type_fold - no_errors IFRD2 HGNC ENSG00000214706 26 0 0 22 10 31.25 IFRD2 0 genome.wustl.edu 37 3 50329820 50329820 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 50329820 50329820 C T SNP IFRD2 ENST00000336089 human ensembl 74_37 -1 known silent c.384 p.V128 1.000 NULL pfam_Interferon-rel_develop_reg_N,pfam_Interferon-rel_develop_reg_C,superfamily_ARM-type_fold - no_errors IFRD2 HGNC ENSG00000214706 16 0 0 15 8 34.7826 CACNA2D2 0 genome.wustl.edu 37 3 50418199 50418199 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 50418199 50418199 G A SNP CACNA2D2 ENST00000435965 human ensembl 74_37 -1 known silent c.822 p.Y274 0.737 NULL pfam_VWA_N,pfam_VDCC_a2/dsu,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D2 HGNC ENSG00000007402 13 0 0 12 4 25 DNAH1 0 genome.wustl.edu 37 3 52425502 52425502 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 52425502 52425502 C T SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known missense c.9935 p.T3312M 0.183 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 31 0 0 19 15 44.1176 NISCH 0 genome.wustl.edu 37 3 52526437 52526437 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 52526437 52526437 T C SNP NISCH ENST00000345716 human ensembl 74_37 +1 known missense c.4454 p.L1485P 0.482 NULL pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors NISCH HGNC ENSG00000010322 94 0 0 76 7 8.43373 WNT5A 0 genome.wustl.edu 37 3 55504317 55504317 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 55504317 55504317 C T SNP WNT5A ENST00000264634 human ensembl 74_37 -1 known missense c.946 p.G316S 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT5A HGNC ENSG00000114251 84 0 0 43 44 50.5747 FAM208A 0 genome.wustl.edu 37 3 56681220 56681220 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 56681220 56681220 C T SNP FAM208A ENST00000355628 human ensembl 74_37 -1 known silent c.1545 p.Q515 0.567 NULL pfam_DUF3715 - no_errors FAM208A HGNC ENSG00000163946 65 0 0 28 12 30 FLNB 0 genome.wustl.edu 37 3 58148890 58148890 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 58148890 58148890 C A SNP FLNB ENST00000295956 human ensembl 74_37 +1 known missense c.7031 p.A2344D 1.000 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 69 0 0 37 22 37.2881 PSMD6 0 genome.wustl.edu 37 3 64004573 64004573 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 64004573 64004573 A G SNP PSMD6 ENST00000295901 human ensembl 74_37 -1 known missense c.638 p.L213P 1.000 pfam_26S_proteasome_reg_su-Rpn7 pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom - no_errors PSMD6 HGNC ENSG00000163636 120 0 0 51 12 19.0476 PRICKLE2 0 genome.wustl.edu 37 3 64145667 64145667 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 64145667 64145667 G A SNP PRICKLE2 ENST00000295902 human ensembl 74_37 -1 known silent c.345 p.R115 0.936 pfam_PET_domain pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE2 HGNC ENSG00000163637 173 0 0 61 35 36.4583 MAGI1 0 genome.wustl.edu 37 3 65342547 65342547 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 65342547 65342547 G A SNP MAGI1 ENST00000402939 human ensembl 74_37 -1 known missense c.3895 p.R1299W 0.544 NULL pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI1 HGNC ENSG00000151276 129 0 0 81 7 7.95455 LRIG1 0 genome.wustl.edu 37 3 66467592 66467592 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 66467592 66467592 C T SNP LRIG1 ENST00000273261 human ensembl 74_37 -1 known missense c.464 p.R155Q 0.990 smart_Leu-rich_rpt_typical-subtyp 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 254 1 0.392157 199 11 5.2381 FOXP1 0 genome.wustl.edu 37 3 71015081 71015081 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 71015081 71015081 C T SNP FOXP1 ENST00000318789 human ensembl 74_37 -1 known missense c.1849 p.E617K 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXP1 HGNC ENSG00000114861 208 0 0 136 79 36.7442 PDZRN3 0 genome.wustl.edu 37 3 73433940 73433940 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 73433940 73433940 C T SNP PDZRN3 ENST00000263666 human ensembl 74_37 -1 known missense c.1777 p.A593T 0.994 NULL pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors PDZRN3 HGNC ENSG00000121440 80 0 0 51 28 35.443 CRYBG3 0 genome.wustl.edu 37 3 97614817 97614817 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 97614817 97614817 A G SNP CRYBG3 ENST00000182096 human ensembl 74_37 +1 known missense c.1745 p.E582G 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBG3 HGNC ENSG00000080200 63 0 0 23 14 37.8378 CAMK1 0 genome.wustl.edu 37 3 9799262 9799262 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 9799262 9799262 C T SNP CAMK1 ENST00000256460 human ensembl 74_37 -1 known silent c.1074 p.P358 0.016 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 CAMK1 HGNC ENSG00000134072 64 0 0 73 10 12.0482 LOC101929271 0 genome.wustl.edu 37 4 100212106 100212106 + Splice_Site SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 100212106 100212106 G A SNP LOC101929271 ENST00000500358 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.000 - - - no_errors RP11-696N14.1 Clone_based_vega_gene ENSG00000246090 119 0 0 35 30 46.1538 FGFRL1 0 genome.wustl.edu 37 4 1018191 1018191 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 1018191 1018191 C T SNP FGFRL1 ENST00000264748 human ensembl 74_37 +1 known missense c.811 p.R271C 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,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FGFRL1 HGNC ENSG00000127418 126 0 0 92 5 5.15464 SLC39A8 0 genome.wustl.edu 37 4 103228707 103228707 + Silent SNP T T A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 103228707 103228707 T A SNP SLC39A8 ENST00000356736 human ensembl 74_37 -1 known silent c.438 p.G146 0.131 pfam_ZIP pfam_ZIP - no_errors SLC39A8 HGNC ENSG00000138821 149 0 0 74 50 40.3226 GSTCD 0 genome.wustl.edu 37 4 106744429 106744429 + Nonsense_Mutation SNP T T A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 106744429 106744429 T A SNP GSTCD ENST00000360505 human ensembl 74_37 +1 known nonsense c.1398 p.C466* 1.000 pfam_rRNA_ssu_MeTfrase_G,pfam_Small_mtfrase_dom pfam_rRNA_ssu_MeTfrase_G,pfam_Small_mtfrase_dom,superfamily_Glutathione-S-Trfase_C-like - no_errors GSTCD HGNC ENSG00000138780 191 0 0 67 44 39.6396 COL25A1 0 genome.wustl.edu 37 4 109861694 109861694 + Splice_Site SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 109861694 109861694 C T SNP COL25A1 ENST00000399132 human ensembl 74_37 -1 known splice_site c.672+1 e9+1 1.000 - - - no_errors COL25A1 HGNC ENSG00000188517 165 0 0 80 31 27.9279 SEC24B 0 genome.wustl.edu 37 4 110452568 110452568 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 110452568 110452568 C T SNP SEC24B ENST00000265175 human ensembl 74_37 +1 known missense c.3280 p.R1094W 1.000 pfam_Sec23/24_helical_dom,superfamily_Sec23/24_helical_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24B HGNC ENSG00000138802 71 0 0 39 20 33.8983 EGF 0 genome.wustl.edu 37 4 110908975 110908975 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 110908975 110908975 A G SNP EGF ENST00000265171 human ensembl 74_37 +1 known missense c.2567 p.Q856R 0.994 pirsf_Pro-epidermal_GF,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt - no_errors EGF HGNC ENSG00000138798 130 0 0 33 29 46.7742 ENPEP 0 genome.wustl.edu 37 4 111397807 111397807 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 111397807 111397807 G A SNP ENPEP ENST00000265162 human ensembl 74_37 +1 known silent c.237 p.P79 0.001 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ENPEP HGNC ENSG00000138792 79 0 0 87 11 11.2245 ENPEP 0 genome.wustl.edu 37 4 111464190 111464190 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 111464190 111464190 G A SNP ENPEP ENST00000265162 human ensembl 74_37 +1 known missense c.1964 p.R655H 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ENPEP HGNC ENSG00000138792 141 0 0 37 17 31.4815 PITX2 0 genome.wustl.edu 37 4 111539810 111539810 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 111539810 111539810 T C SNP PITX2 ENST00000306732 human ensembl 74_37 -1 known missense c.446 p.K149R 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Pitx/unc30,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors PITX2 HGNC ENSG00000164093 138 0 0 72 54 42.8571 METTL14 0 genome.wustl.edu 37 4 119631419 119631419 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 119631419 119631419 C T SNP METTL14 ENST00000388822 human ensembl 74_37 +1 known missense c.1333 p.R445C 1.000 NULL pfam_MT-A70-like,pfscan_MT-A70-like - no_errors METTL14 HGNC ENSG00000145388 66 0 0 33 14 29.7872 CTBP1-AS2 0 genome.wustl.edu 37 4 1244239 1244239 + RNA SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 1244239 1244239 G A SNP CTBP1-AS2 ENST00000578730 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors CTBP1-AS2 HGNC ENSG00000196810 22 0 0 14 11 44 FAT4 0 genome.wustl.edu 37 4 126241907 126241907 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 126241907 126241907 T C SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known silent c.4341 p.P1447 0.002 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 172 0 0 65 47 41.9643 PCDH10 0 genome.wustl.edu 37 4 134072933 134072933 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 134072933 134072933 G A SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known silent c.1638 p.R546 0.997 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 PCDH10 HGNC ENSG00000138650 103 0 0 73 37 33.6364 HHIP 0 genome.wustl.edu 37 4 145636526 145636526 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 145636526 145636526 G T SNP HHIP ENST00000296575 human ensembl 74_37 +1 known missense c.1622 p.G541V 1.000 NULL pfam_Folate_rcpt-like,superfamily_Quinoprot_gluc/sorb_DH,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HHIP HGNC ENSG00000164161 98 0 0 47 22 31.8841 FBXL5 0 genome.wustl.edu 37 4 15628520 15628520 + Missense_Mutation SNP T T A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 15628520 15628520 T A SNP FBXL5 ENST00000341285 human ensembl 74_37 -1 known missense c.1100 p.D367V 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_F-box_dom,pfam_Leu-rich_rpt,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL5 HGNC ENSG00000118564 31 0 0 14 5 26.3158 GUCY1B3 0 genome.wustl.edu 37 4 156717621 156717621 + Nonsense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 156717621 156717621 C A SNP GUCY1B3 ENST00000264424 human ensembl 74_37 +1 known nonsense c.936 p.Y312* 1.000 pfam_Haem_no_assoc-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 47 0 0 22 11 33.3333 GRIA2 0 genome.wustl.edu 37 4 158233830 158233830 + Splice_Site SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 158233830 158233830 G T SNP GRIA2 ENST00000264426 human ensembl 74_37 +1 known splice_site c.470-1 e4-1 1.000 - - - no_errors GRIA2 HGNC ENSG00000120251 45 0 0 26 19 42.2222 RAPGEF2 0 genome.wustl.edu 37 4 160268152 160268152 + Splice_Site SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 160268152 160268152 T C SNP RAPGEF2 ENST00000264431 human ensembl 74_37 +1 known splice_site c.3229+2 e19+2 1.000 - - - no_errors RAPGEF2 HGNC ENSG00000109756 84 0 0 78 5 6.0241 TENM3 0 genome.wustl.edu 37 4 183721137 183721137 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 183721137 183721137 C T SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.7733 p.T2578M 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 13 0 0 11 6 35.2941 WWC2 0 genome.wustl.edu 37 4 184182199 184182199 + Missense_Mutation SNP A A C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 184182199 184182199 A C SNP WWC2 ENST00000448232 human ensembl 74_37 +1 known missense c.1423 p.S475R 0.150 NULL pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WWC2 HGNC ENSG00000151718 41 0 0 24 17 41.4634 FAT1 0 genome.wustl.edu 37 4 187539004 187539004 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 187539004 187539004 G A SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known silent c.8736 p.N2912 0.727 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 80 0 0 39 17 30.3571 FAT1 0 genome.wustl.edu 37 4 187630248 187630248 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 187630248 187630248 A G SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.734 p.V245A 0.999 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 168 0 0 137 8 5.51724 HAUS3 0 genome.wustl.edu 37 4 2240395 2240395 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 2240395 2240395 G T SNP HAUS3 ENST00000243706 human ensembl 74_37 -1 known missense c.1285 p.P429T 0.063 NULL NULL - no_errors HAUS3 HGNC ENSG00000214367 84 0 0 34 15 30.6122 HAUS3 0 genome.wustl.edu 37 4 2240518 2240518 + Nonsense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 2240518 2240518 G A SNP HAUS3 ENST00000243706 human ensembl 74_37 -1 known nonsense c.1162 p.Q388* 0.981 NULL NULL - no_errors HAUS3 HGNC ENSG00000214367 63 0 0 45 14 23.7288 SH3BP2 0 genome.wustl.edu 37 4 2824766 2824766 + Splice_Site SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 2824766 2824766 T C SNP SH3BP2 ENST00000503393 human ensembl 74_37 +1 known splice_site c.410+2 e3+2 1.000 - - - no_errors SH3BP2 HGNC ENSG00000087266 34 0 0 19 4 17.3913 MFSD10 0 genome.wustl.edu 37 4 2933848 2933848 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 2933848 2933848 C T SNP MFSD10 ENST00000503596 human ensembl 74_37 -1 known missense c.623 p.R208Q 0.000 pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors MFSD10 HGNC ENSG00000109736 27 0 0 17 16 48.4848 PCDH7 0 genome.wustl.edu 37 4 30921914 30921914 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 30921914 30921914 C T SNP PCDH7 ENST00000543491 human ensembl 74_37 +1 known missense c.3314 p.A1105V 1.000 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH7 HGNC ENSG00000169851 81 0 0 80 7 8.04598 ARAP2 0 genome.wustl.edu 37 4 36115818 36115818 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 36115818 36115818 A G SNP ARAP2 ENST00000303965 human ensembl 74_37 -1 known missense c.4130 p.F1377S 1.000 pfam_Ras-assoc,pfscan_Ras-assoc pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ENSG00000047365 177 0 0 68 40 37.037 YIPF7 0 genome.wustl.edu 37 4 44626737 44626737 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 44626737 44626737 A G SNP YIPF7 ENST00000332990 human ensembl 74_37 -1 known silent c.561 p.H187 0.270 pfam_Yip1 pfam_Yip1 - no_errors YIPF7 HGNC ENSG00000177752 20 0 0 14 3 17.6471 FRYL 0 genome.wustl.edu 37 4 48567646 48567646 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 48567646 48567646 T C SNP FRYL ENST00000358350 human ensembl 74_37 -1 known missense c.3232 p.S1078G 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 57 0 0 29 6 17.1429 LRRC66 0 genome.wustl.edu 37 4 52861931 52861931 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 52861931 52861931 C T SNP LRRC66 ENST00000343457 human ensembl 74_37 -1 known silent c.1257 p.A419 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC66 HGNC ENSG00000188993 184 0 0 98 22 18.3333 PDGFRA 0 genome.wustl.edu 37 4 55156584 55156584 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 55156584 55156584 C T SNP PDGFRA ENST00000257290 human ensembl 74_37 +1 known silent c.2985 p.N995 0.998 pirsf_Tyr_kinase_CSF1/PDGF_rcpt pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors PDGFRA HGNC ENSG00000134853 143 0 0 81 41 33.6066 EVC2 0 genome.wustl.edu 37 4 5570350 5570350 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 5570350 5570350 C T SNP EVC2 ENST00000344408 human ensembl 74_37 -1 known silent c.3378 p.S1126 0.000 NULL pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 28 0 0 18 7 28 EVC2 0 genome.wustl.edu 37 4 5624286 5624286 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 5624286 5624286 G A SNP EVC2 ENST00000344408 human ensembl 74_37 -1 known missense c.2479 p.R827C 0.560 NULL pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 26 0 0 17 9 34.6154 TMEM165 0 genome.wustl.edu 37 4 56291672 56291672 + RNA SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 56291672 56291672 G A SNP TMEM165 ENST00000508561 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors TMEM165 HGNC ENSG00000134851 39 0 0 12 8 40 CCDC96 0 genome.wustl.edu 37 4 7043547 7043547 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 7043547 7043547 G A SNP CCDC96 ENST00000310085 human ensembl 74_37 -1 known silent c.1119 p.S373 0.000 NULL NULL - no_errors CCDC96 HGNC ENSG00000173013 183 0 0 72 56 43.75 TADA2B 0 genome.wustl.edu 37 4 7056173 7056173 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 7056173 7056173 C T SNP TADA2B ENST00000310074 human ensembl 74_37 +1 known missense c.655 p.R219W 0.998 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 170 0 0 98 64 39.5062 ANKRD17 0 genome.wustl.edu 37 4 73956980 73956980 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 73956980 73956980 G T SNP ANKRD17 ENST00000358602 human ensembl 74_37 -1 known missense c.6365 p.P2122H 1.000 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 ANKRD17 HGNC ENSG00000132466 158 1 0.628931 128 8 5.88235 FAM47E-STBD1 0 genome.wustl.edu 37 4 77230676 77230676 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 77230676 77230676 C T SNP FAM47E-STBD1 ENST00000237642 human ensembl 74_37 +1 known silent c.600 p.H200 0.000 NULL pfam_CBM_fam20,superfamily_Carb-bd-like_fold,pfscan_CBM_fam20 - no_errors FAM47E-STBD1 HGNC ENSG00000118804 62 0 0 50 5 9.09091 FRAS1 0 genome.wustl.edu 37 4 79295337 79295337 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 79295337 79295337 T C SNP FRAS1 ENST00000264895 human ensembl 74_37 +1 known missense c.3083 p.L1028S 0.136 superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_EG-like_dom pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 124 0 0 89 6 6.31579 PLAC8 0 genome.wustl.edu 37 4 84028970 84028970 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 84028970 84028970 G A SNP PLAC8 ENST00000311507 human ensembl 74_37 -1 known silent c.105 p.S35 0.944 pfam_Uncharacterised_Cys-rich,tigrfam_Uncharacterised_Cys-rich pfam_Uncharacterised_Cys-rich,tigrfam_Uncharacterised_Cys-rich - no_errors PLAC8 HGNC ENSG00000145287 86 0 0 42 15 26.3158 PTPN13 0 genome.wustl.edu 37 4 87684104 87684104 + Nonsense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 87684104 87684104 C T SNP PTPN13 ENST00000436978 human ensembl 74_37 +1 known nonsense c.3778 p.Q1260* 1.000 pirsf_Tyr_Pase_non-rcpt_typ-13 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 55 0 0 32 20 38.4615 HERC6 0 genome.wustl.edu 37 4 89326076 89326076 + Nonsense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 89326076 89326076 C T SNP HERC6 ENST00000264346 human ensembl 74_37 +1 known nonsense c.1141 p.R381* 0.940 NULL pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC6 HGNC ENSG00000138642 82 0 0 39 33 45.8333 HERC3 0 genome.wustl.edu 37 4 89588627 89588627 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 89588627 89588627 G T SNP HERC3 ENST00000264345 human ensembl 74_37 +1 known missense c.1431 p.M477I 0.998 NULL pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC3 HGNC ENSG00000138641 37 0 0 8 5 38.4615 MMRN1 0 genome.wustl.edu 37 4 90830508 90830508 + Missense_Mutation SNP A A C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 90830508 90830508 A C SNP MMRN1 ENST00000264790 human ensembl 74_37 +1 known missense c.705 p.K235N 0.004 pfam_EMI_domain,pfscan_EMI_domain 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 72 0 0 29 5 14.7059 RAP1GDS1 0 genome.wustl.edu 37 4 99300202 99300202 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 99300202 99300202 T C SNP RAP1GDS1 ENST00000339360 human ensembl 74_37 +1 known silent c.399 p.G133 1.000 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors RAP1GDS1 HGNC ENSG00000138698 95 0 0 46 22 32.3529 SLCO6A1 0 genome.wustl.edu 37 5 101834487 101834487 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 101834487 101834487 G A SNP SLCO6A1 ENST00000379807 human ensembl 74_37 -1 known missense c.62 p.P21L 0.000 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO6A1 HGNC ENSG00000205359 259 0 0 137 69 33.4951 PPIP5K2 0 genome.wustl.edu 37 5 102465389 102465389 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 102465389 102465389 T C SNP PPIP5K2 ENST00000358359 human ensembl 74_37 +1 known silent c.96 p.D32 0.096 NULL pfam_His_Pase_superF_clade-2 - no_errors PPIP5K2 HGNC ENSG00000145725 63 0 0 17 12 41.3793 FER 0 genome.wustl.edu 37 5 108295005 108295005 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 108295005 108295005 T C SNP FER ENST00000281092 human ensembl 74_37 +1 known missense c.1613 p.I538T 1.000 pirsf_Tyr_kinase_non-rcpt_Fes_subgr,superfamily_Kinase-like_dom,pfscan_SH2 pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_FCH_dom,superfamily_Kinase-like_dom,smart_FCH_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH_dom,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors FER HGNC ENSG00000151422 71 0 0 32 22 40.7407 KCNN2 0 genome.wustl.edu 37 5 113698500 113698500 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 113698500 113698500 G A SNP KCNN2 ENST00000264773 human ensembl 74_37 +1 known missense c.28 p.V10I 1.000 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN2 HGNC ENSG00000080709 31 0 0 26 13 33.3333 FEM1C 0 genome.wustl.edu 37 5 114878823 114878823 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 114878823 114878823 G A SNP FEM1C ENST00000274457 human ensembl 74_37 -1 known missense c.368 p.A123V 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors FEM1C HGNC ENSG00000145780 98 0 0 45 21 31.8182 AQPEP 0 genome.wustl.edu 37 5 115323514 115323514 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 115323514 115323514 G A SNP AQPEP ENST00000357872 human ensembl 74_37 +1 known missense c.983 p.R328H 0.998 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors AQPEP Uniprot_gn ENSG00000172901 71 0 0 31 17 35.4167 FTMT 0 genome.wustl.edu 37 5 121187725 121187725 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 121187725 121187725 C T SNP FTMT ENST00000321339 human ensembl 74_37 +1 known missense c.67 p.R23C 0.000 NULL pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron - no_errors FTMT HGNC ENSG00000181867 57 0 0 26 16 38.0952 SHROOM1 0 genome.wustl.edu 37 5 132160980 132160980 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 132160980 132160980 T C SNP SHROOM1 ENST00000378679 human ensembl 74_37 -1 known missense c.853 p.M285V 0.000 NULL pfam_ASD2,pfam_ASD1 - no_errors SHROOM1 HGNC ENSG00000164403 39 0 0 17 12 41.3793 TCF7 0 genome.wustl.edu 37 5 133481935 133481935 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 133481935 133481935 G A SNP TCF7 ENST00000342854 human ensembl 74_37 +1 known missense c.1096 p.G366S 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 TCF7 HGNC ENSG00000081059 260 0 0 130 89 40.6393 PHF15 0 genome.wustl.edu 37 5 133871564 133871564 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 133871564 133871564 G A SNP PHF15 ENST00000395003 human ensembl 74_37 +1 known missense c.17 p.R6Q 1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF15 HGNC ENSG00000043143 63 0 0 36 26 41.9355 C5orf24 0 genome.wustl.edu 37 5 134190673 134190673 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 134190673 134190673 C T SNP C5orf24 ENST00000338051 human ensembl 74_37 +1 known missense c.83 p.A28V 1.000 NULL NULL - no_errors C5orf24 HGNC ENSG00000181904 203 0 0 117 62 34.6369 CATSPER3 0 genome.wustl.edu 37 5 134343728 134343728 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 134343728 134343728 G A SNP CATSPER3 ENST00000282611 human ensembl 74_37 +1 known missense c.574 p.A192T 0.796 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER3 HGNC ENSG00000152705 131 0 0 95 7 6.86275 CXCL14 0 genome.wustl.edu 37 5 134910282 134910282 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 134910282 134910282 G A SNP CXCL14 ENST00000337225 human ensembl 74_37 -1 known silent c.300 p.N100 0.668 superfamily_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom - no_errors CXCL14 HGNC ENSG00000145824 66 0 0 15 13 46.4286 SPOCK1 0 genome.wustl.edu 37 5 136403466 136403466 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 136403466 136403466 C T SNP SPOCK1 ENST00000282223 human ensembl 74_37 -1 known missense c.527 p.C176Y 1.000 pfam_Kazal_dom,smart_Kazal_dom pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SPOCK1 HGNC ENSG00000152377 166 0 0 47 33 41.25 TMEM173 0 genome.wustl.edu 37 5 138860962 138860962 + RNA SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 138860962 138860962 C A SNP TMEM173 ENST00000511850 human ensembl 74_37 -1 known rna NULL NULL 0.207 - - - no_errors TMEM173 HGNC ENSG00000184584 21 0 0 38 4 9.52381 NRG2 0 genome.wustl.edu 37 5 139260471 139260471 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 139260471 139260471 T C SNP NRG2 ENST00000545385 human ensembl 74_37 -1 known missense c.961 p.T321A 0.987 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_EG-like_dom,pfscan_Ig-like_dom - no_errors NRG2 HGNC ENSG00000158458 75 0 0 59 4 6.34921 APBB3 0 genome.wustl.edu 37 5 139941182 139941182 + Missense_Mutation SNP A A C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 139941182 139941182 A C SNP APBB3 ENST00000356738 human ensembl 74_37 -1 known missense c.752 p.L251R 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_WW_dom - no_errors APBB3 HGNC ENSG00000113108 228 0 0 191 60 23.9044 PCDHA1 0 genome.wustl.edu 37 5 140167265 140167265 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 140167265 140167265 G A SNP PCDHA1 ENST00000504120 human ensembl 74_37 +1 known missense c.1390 p.V464M 0.944 pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 142 0 0 176 14 7.36842 PCDHA1 0 genome.wustl.edu 37 5 140167382 140167382 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 140167382 140167382 G A SNP PCDHA1 ENST00000504120 human ensembl 74_37 +1 known missense c.1507 p.A503T 0.348 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 PCDHA1 HGNC ENSG00000204970 136 0 0 137 9 6.16438 PCDHA5 0 genome.wustl.edu 37 5 140201490 140201490 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 140201490 140201490 G A SNP PCDHA5 ENST00000529859 human ensembl 74_37 +1 known missense c.130 p.V44I 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA5 HGNC ENSG00000204965 127 0 0 97 27 21.7742 PCDHA5 0 genome.wustl.edu 37 5 140202694 140202694 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 140202694 140202694 C T SNP PCDHA5 ENST00000529859 human ensembl 74_37 +1 known missense c.1334 p.A445V 0.000 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 PCDHA5 HGNC ENSG00000204965 182 1 0.546448 213 15 6.57895 PCDHA8 0 genome.wustl.edu 37 5 140222198 140222198 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 140222198 140222198 G A SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known missense c.1292 p.G431D 0.997 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 PCDHA8 HGNC ENSG00000204962 181 0 0 129 91 41.3636 PCDHA9 0 genome.wustl.edu 37 5 140230226 140230226 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 140230226 140230226 C T SNP PCDHA9 ENST00000532602 human ensembl 74_37 +1 known silent c.2146 p.L716 0.975 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 133 0 0 135 40 22.8571 PCDHA11 0 genome.wustl.edu 37 5 140249805 140249805 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 140249805 140249805 G A SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known missense c.1117 p.V373M 0.994 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 103 0 0 78 40 33.8983 PCDHA11 0 genome.wustl.edu 37 5 140250611 140250611 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 140250611 140250611 G A SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known silent c.1923 p.S641 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 98 0 0 137 10 6.80272 PCDHA12 0 genome.wustl.edu 37 5 140257063 140257063 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 140257063 140257063 T C SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known missense c.2006 p.L669P 0.169 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 PCDHA12 HGNC ENSG00000251664 69 0 0 117 8 6.4 PCDHA13 0 genome.wustl.edu 37 5 140263628 140263628 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 140263628 140263628 C T SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known missense c.1775 p.A592V 0.830 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 163 0 0 211 14 6.22222 PCDHB2 0 genome.wustl.edu 37 5 140474401 140474401 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 140474401 140474401 C T SNP PCDHB2 ENST00000194155 human ensembl 74_37 +1 known silent c.27 p.R9 0.001 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB2 HGNC ENSG00000112852 78 0 0 43 27 38.5714 PCDHB6 0 genome.wustl.edu 37 5 140531688 140531688 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 140531688 140531688 C T SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known missense c.1850 p.A617V 0.995 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 80 0 0 60 38 38.7755 ENSG00000255622 0 genome.wustl.edu 37 5 140536946 140536946 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 140536946 140536946 A G SNP ENSG00000255622 ENST00000539533 human ensembl 74_37 +1 known missense c.1370 p.Y457C 0.154 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB17 Uniprot_gn ENSG00000255622 179 0 0 272 50 15.528 PCDHB8 0 genome.wustl.edu 37 5 140558574 140558574 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 140558574 140558574 T C SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known missense c.959 p.I320T 0.081 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 PCDHB8 HGNC ENSG00000120322 203 1 0.490196 161 10 5.84795 PCDHB12 0 genome.wustl.edu 37 5 140590002 140590002 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 140590002 140590002 C T SNP PCDHB12 ENST00000239450 human ensembl 74_37 +1 known missense c.1523 p.A508V 0.007 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 PCDHB12 HGNC ENSG00000120328 189 0 0 192 100 34.2466 PCDHB14 0 genome.wustl.edu 37 5 140604218 140604218 + Missense_Mutation SNP A A C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 140604218 140604218 A C SNP PCDHB14 ENST00000239449 human ensembl 74_37 +1 known missense c.1141 p.M381L 0.000 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 PCDHB14 HGNC ENSG00000120327 125 0 0 98 20 16.9492 PCDHGA1 0 genome.wustl.edu 37 5 140710353 140710353 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 140710353 140710353 A G SNP PCDHGA1 ENST00000517417 human ensembl 74_37 +1 known silent c.102 p.S34 0.001 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA1 HGNC ENSG00000204956 120 0 0 113 26 18.705 PCDHGA2 0 genome.wustl.edu 37 5 140720953 140720953 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 140720953 140720953 G A SNP PCDHGA2 ENST00000394576 human ensembl 74_37 +1 known silent c.2415 p.T805 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 66 0 0 33 30 47.619 PCDHGA3 0 genome.wustl.edu 37 5 140723665 140723665 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 140723665 140723665 C T SNP PCDHGA3 ENST00000253812 human ensembl 74_37 +1 known missense c.65 p.T22M 0.102 smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC ENSG00000254245 299 0 0 135 92 40.5286 PCDHGA3 0 genome.wustl.edu 37 5 140725605 140725605 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 140725605 140725605 C T SNP PCDHGA3 ENST00000253812 human ensembl 74_37 +1 known missense c.2005 p.P669S 0.998 smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC ENSG00000254245 70 0 0 75 11 12.7907 PCDHGA3 0 genome.wustl.edu 37 5 140725690 140725690 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 140725690 140725690 T C SNP PCDHGA3 ENST00000253812 human ensembl 74_37 +1 known missense c.2090 p.V697A 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC ENSG00000254245 149 0 0 123 26 17.4497 PCDHGA3 0 genome.wustl.edu 37 5 140725741 140725741 + Missense_Mutation SNP T T A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 140725741 140725741 T A SNP PCDHGA3 ENST00000253812 human ensembl 74_37 +1 known missense c.2141 p.L714H 0.420 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC ENSG00000254245 180 0 0 148 26 14.9425 PCDHGB1 0 genome.wustl.edu 37 5 140731334 140731334 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 140731334 140731334 G A SNP PCDHGB1 ENST00000523390 human ensembl 74_37 +1 known missense c.1507 p.V503M 0.168 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 PCDHGB1 HGNC ENSG00000254221 103 0 0 63 42 40 PCDHGA11 0 genome.wustl.edu 37 5 140801232 140801232 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 140801232 140801232 C T SNP PCDHGA11 ENST00000398587 human ensembl 74_37 +1 known silent c.438 p.H146 0.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA11 HGNC ENSG00000253873 28 0 0 21 13 38.2353 PCDHGB8P 0 genome.wustl.edu 37 5 140807735 140807735 + RNA SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 140807735 140807735 C T SNP PCDHGB8P ENST00000502926 human ensembl 74_37 +1 known rna NULL NULL 0.013 - - - no_errors PCDHGB8P HGNC ENSG00000248449 20 0 0 30 9 23.0769 GNPDA1 0 genome.wustl.edu 37 5 141384602 141384602 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 141384602 141384602 G A SNP GNPDA1 ENST00000311337 human ensembl 74_37 -1 known silent c.489 p.A163 0.998 pfam_Glc/Gal-6P_isomerase,tigrfam_Glucosamine6P_isomerase pfam_Glc/Gal-6P_isomerase,tigrfam_Glucosamine6P_isomerase - no_errors GNPDA1 HGNC ENSG00000113552 41 0 0 19 7 26.9231 TRIO 0 genome.wustl.edu 37 5 14504592 14504592 + Silent SNP C C G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 14504592 14504592 C G SNP TRIO ENST00000344204 human ensembl 74_37 +1 known silent c.8502 p.R2834 0.800 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_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 311 0 0 183 95 34.1727 LARS 0 genome.wustl.edu 37 5 145543919 145543919 + Missense_Mutation SNP T T A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 145543919 145543919 T A SNP LARS ENST00000394434 human ensembl 74_37 -1 known missense c.548 p.Y183F 1.000 tigrfam_Leu-tRNA-synth_Ia_arc/euk pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Leu-tRNA-synth_Ia_arc/euk - no_errors LARS HGNC ENSG00000133706 170 0 0 60 44 42.3077 FBXO38 0 genome.wustl.edu 37 5 147821616 147821616 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 147821616 147821616 G A SNP FBXO38 ENST00000340253 human ensembl 74_37 +1 known missense c.3473 p.R1158H 1.000 NULL superfamily_F-box_dom - no_errors FBXO38 HGNC ENSG00000145868 81 0 0 40 17 29.8246 SLC36A1 0 genome.wustl.edu 37 5 150847485 150847485 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 150847485 150847485 A G SNP SLC36A1 ENST00000243389 human ensembl 74_37 +1 known missense c.722 p.Q241R 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC36A1 HGNC ENSG00000123643 51 0 0 27 23 46 SLC36A1 0 genome.wustl.edu 37 5 150859003 150859003 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 150859003 150859003 A G SNP SLC36A1 ENST00000243389 human ensembl 74_37 +1 known missense c.1112 p.E371G 0.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC36A1 HGNC ENSG00000123643 97 0 0 69 5 6.75676 HAND1 0 genome.wustl.edu 37 5 153857481 153857481 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 153857481 153857481 C T SNP HAND1 ENST00000231121 human ensembl 74_37 -1 known missense c.88 p.G30S 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors HAND1 HGNC ENSG00000113196 176 0 0 77 25 24.5098 FBXL7 0 genome.wustl.edu 37 5 15937067 15937067 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 15937067 15937067 C T SNP FBXL7 ENST00000504595 human ensembl 74_37 +1 known silent c.1248 p.S416 0.623 smart_Leu-rich_rpt_Cys-con_subtyp pfam_Leu-rich_rpt,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL7 HGNC ENSG00000183580 58 0 0 31 27 46.5517 GABRA1 0 genome.wustl.edu 37 5 161318019 161318019 + Nonsense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 161318019 161318019 G A SNP GABRA1 ENST00000023897 human ensembl 74_37 +1 known nonsense c.819 p.W273* 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA1 HGNC ENSG00000022355 80 0 0 35 23 39.6552 TENM2 0 genome.wustl.edu 37 5 167545304 167545304 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 167545304 167545304 C T SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known silent c.1821 p.C607 1.000 smart_EG-like_dom 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 187 0 0 146 54 27 DOCK2 0 genome.wustl.edu 37 5 169267806 169267806 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 169267806 169267806 C T SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.2749 p.R917W 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 52 0 0 24 9 27.2727 UIMC1 0 genome.wustl.edu 37 5 176396164 176396164 + Missense_Mutation SNP A A T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 176396164 176396164 A T SNP UIMC1 ENST00000377219 human ensembl 74_37 -1 known missense c.592 p.S198T 1.000 NULL smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif - no_errors UIMC1 HGNC ENSG00000087206 70 0 0 86 5 5.49451 NSD1 0 genome.wustl.edu 37 5 176720831 176720831 + Splice_Site SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 176720831 176720831 A G SNP NSD1 ENST00000439151 human ensembl 74_37 +1 known splice_site c.6464-2 e22-2 1.000 - - - no_errors NSD1 HGNC ENSG00000165671 94 0 0 92 6 6.12245 LOC728554 0 genome.wustl.edu 37 5 177310670 177310670 + RNA SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 177310670 177310670 G A SNP LOC728554 ENST00000506672 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-423H2.1 Clone_based_vega_gene ENSG00000170089 63 0 0 40 14 25.9259 PROP1 0 genome.wustl.edu 37 5 177420032 177420032 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 177420032 177420032 C T SNP PROP1 ENST00000308304 human ensembl 74_37 -1 known missense c.359 p.R120H 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors PROP1 HGNC ENSG00000175325 32 0 0 23 5 17.8571 NHP2 0 genome.wustl.edu 37 5 177580799 177580799 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 177580799 177580799 T C SNP NHP2 ENST00000274606 human ensembl 74_37 -1 known missense c.20 p.D7G 0.000 NULL pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,prints_Ribosomal_L7Ae/L8/Nhp2,prints_H/ACA_rnp_Nhp2_euk - no_errors NHP2 HGNC ENSG00000145912 21 0 0 12 5 29.4118 ZNF354A 0 genome.wustl.edu 37 5 178139580 178139580 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 178139580 178139580 A G SNP ZNF354A ENST00000335815 human ensembl 74_37 -1 known silent c.1299 p.T433 0.667 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 ZNF354A HGNC ENSG00000169131 115 0 0 50 32 39.0244 LOC101928445 0 genome.wustl.edu 37 5 179023396 179023396 + RNA SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 179023396 179023396 G T SNP LOC101928445 ENST00000500262 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-1379J22.2 Clone_based_vega_gene ENSG00000244945 21 0 0 15 12 44.4444 CANX 0 genome.wustl.edu 37 5 179132741 179132741 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 179132741 179132741 C T SNP CANX ENST00000415618 human ensembl 74_37 +1 known missense c.164 p.A55V 0.990 NULL pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,prints_Calret/calnex - no_errors CANX HGNC ENSG00000127022 301 0 0 143 75 34.4037 SQSTM1 0 genome.wustl.edu 37 5 179260239 179260239 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 179260239 179260239 G A SNP SQSTM1 ENST00000389805 human ensembl 74_37 +1 known missense c.962 p.R321H 0.001 NULL pfam_Znf_ZZ,pfam_OPR_PB1,superfamily_UBA-like,smart_OPR_PB1,smart_Znf_ZZ,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_ZZ - no_errors SQSTM1 HGNC ENSG00000161011 8 0 0 9 6 40 GFPT2 0 genome.wustl.edu 37 5 179762943 179762943 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 179762943 179762943 G A SNP GFPT2 ENST00000253778 human ensembl 74_37 -1 known silent c.225 p.S75 0.995 NULL pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT2 HGNC ENSG00000131459 111 0 0 65 11 14.4737 CDH12 0 genome.wustl.edu 37 5 21751879 21751879 + Missense_Mutation SNP T T G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 21751879 21751879 T G SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known missense c.2352 p.E784D 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 116 0 0 61 30 32.967 IRX1 0 genome.wustl.edu 37 5 3599615 3599615 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 3599615 3599615 C T SNP IRX1 ENST00000302006 human ensembl 74_37 +1 known missense c.553 p.L185F 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX1 HGNC ENSG00000170549 125 0 0 76 31 28.972 C5orf42 0 genome.wustl.edu 37 5 37115140 37115140 + Missense_Mutation SNP A A C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 37115140 37115140 A C SNP C5orf42 ENST00000425232 human ensembl 74_37 -1 known missense c.9160 p.F3054V 0.023 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 33 0 0 2 3 60 NDUFS4 0 genome.wustl.edu 37 5 52899287 52899287 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 52899287 52899287 T C SNP NDUFS4 ENST00000296684 human ensembl 74_37 +1 known missense c.104 p.L35S 0.973 NULL pfam_NADH_UbQ_FeS_4_mit - no_errors NDUFS4 HGNC ENSG00000164258 65 0 0 44 11 20 KIAA0947 0 genome.wustl.edu 37 5 5464737 5464737 + Silent SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 5464737 5464737 C A SNP KIAA0947 ENST00000296564 human ensembl 74_37 +1 known silent c.5290 p.R1764 1.000 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 14 0 0 14 8 36.3636 MAP3K1 0 genome.wustl.edu 37 5 56177588 56177588 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 56177588 56177588 G A SNP MAP3K1 ENST00000399503 human ensembl 74_37 +1 novel missense c.2561 p.R854H 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_dom - no_errors MAP3K1 HGNC ENSG00000095015 114 0 0 72 5 6.49351 CEP72 0 genome.wustl.edu 37 5 637785 637785 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 637785 637785 G A SNP CEP72 ENST00000264935 human ensembl 74_37 +1 known missense c.1058 p.C353Y 0.005 NULL smart_Leu-rich_rpt_typical-subtyp,smart_U2A'_phosphoprotein32A_C - no_errors CEP72 HGNC ENSG00000112877 60 0 0 29 15 34.0909 PAPD7 0 genome.wustl.edu 37 5 6746403 6746403 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 6746403 6746403 G T SNP PAPD7 ENST00000230859 human ensembl 74_37 +1 known missense c.572 p.G191V 1.000 pfam_PAP_assoc pfam_PAP_assoc,pfam_Nucleotidyltransferase - no_errors PAPD7 HGNC ENSG00000112941 112 0 0 63 38 37.6238 FOXD1 0 genome.wustl.edu 37 5 72743584 72743584 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 72743584 72743584 C A SNP FOXD1 ENST00000499003 human ensembl 74_37 -1 known missense c.604 p.D202Y 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD1 HGNC ENSG00000251493 110 0 0 82 50 37.8788 SV2C 0 genome.wustl.edu 37 5 75594678 75594678 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 75594678 75594678 C T SNP SV2C ENST00000502798 human ensembl 74_37 +1 known missense c.1562 p.T521I 0.965 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 124 0 0 44 19 30.1587 S100Z 0 genome.wustl.edu 37 5 76171297 76171297 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 76171297 76171297 T C SNP S100Z ENST00000317593 human ensembl 74_37 +1 known missense c.113 p.L38P 0.990 pfam_S100_Ca-bd_sub pfam_S100_Ca-bd_sub,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors S100Z HGNC ENSG00000171643 133 0 0 57 34 37.3626 SNORA47 0 genome.wustl.edu 37 5 76376268 76376268 + RNA SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 76376268 76376268 G A SNP SNORA47 ENST00000458862 human ensembl 74_37 -1 known rna NULL NULL 0.783 - - - no_errors SNORA47 HGNC ENSG00000238961 53 0 0 36 15 29.4118 PDE8B 0 genome.wustl.edu 37 5 76709128 76709128 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 76709128 76709128 A G SNP PDE8B ENST00000264917 human ensembl 74_37 +1 known silent c.1905 p.R635 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,pfam_PDEase_PDE8,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,pfam_PAS_fold_3,superfamily_PAS,superfamily_CheY-like_superfamily,smart_PAS,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS - no_errors PDE8B HGNC ENSG00000113231 76 0 0 50 21 29.5775 CMYA5 0 genome.wustl.edu 37 5 79028254 79028254 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 79028254 79028254 G T SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.3666 p.Q1222H 0.869 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 16 0 0 13 17 56.6667 ZFYVE16 0 genome.wustl.edu 37 5 79734457 79734457 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 79734457 79734457 A G SNP ZFYVE16 ENST00000338008 human ensembl 74_37 +1 known silent c.1953 p.Q651 0.058 pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE16 HGNC ENSG00000039319 77 0 0 58 5 7.93651 ATP6AP1L 0 genome.wustl.edu 37 5 81608638 81608638 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 81608638 81608638 A G SNP ATP6AP1L ENST00000380167 human ensembl 74_37 +1 known missense c.340 p.S114G 0.553 NULL NULL - no_errors ATP6AP1L HGNC ENSG00000205464 84 0 0 74 5 6.32911 VCAN 0 genome.wustl.edu 37 5 82815503 82815503 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 82815503 82815503 C T SNP VCAN ENST00000265077 human ensembl 74_37 +1 known missense c.1378 p.L460F 0.082 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 114 0 0 64 34 34.6939 GPR98 0 genome.wustl.edu 37 5 90087050 90087050 + Nonsense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 90087050 90087050 C T SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known nonsense c.14404 p.R4802* 0.112 NULL 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 24 0 0 18 7 28 GPR98 0 genome.wustl.edu 37 5 90106235 90106235 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 90106235 90106235 A G SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.15158 p.E5053G 1.000 pfam_Calx_beta,smart_Calx_beta 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 33 0 0 21 12 36.3636 MCTP1 0 genome.wustl.edu 37 5 94253672 94253672 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 94253672 94253672 C T SNP MCTP1 ENST00000515393 human ensembl 74_37 -1 known missense c.1279 p.G427S 0.000 NULL pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_C2_dom - no_errors MCTP1 HGNC ENSG00000175471 66 0 0 15 15 50 ARSK 0 genome.wustl.edu 37 5 94901771 94901771 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 94901771 94901771 C T SNP ARSK ENST00000380009 human ensembl 74_37 +1 known missense c.196 p.R66C 0.980 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSK HGNC ENSG00000164291 55 0 0 14 10 41.6667 SPATA9 0 genome.wustl.edu 37 5 95011302 95011302 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 95011302 95011302 A G SNP SPATA9 ENST00000274432 human ensembl 74_37 -1 known silent c.192 p.A64 0.031 NULL NULL - no_errors SPATA9 HGNC ENSG00000145757 70 0 0 35 18 33.9623 CAST 0 genome.wustl.edu 37 5 96101027 96101027 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 96101027 96101027 A G SNP CAST ENST00000395813 human ensembl 74_37 +1 known missense c.2035 p.K679E 1.000 pfam_Prot_inh_calpain pfam_Prot_inh_calpain - no_errors CAST HGNC ENSG00000153113 61 0 0 41 5 10.8696 PRDM13 0 genome.wustl.edu 37 6 100061025 100061025 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 100061025 100061025 C T SNP PRDM13 ENST00000369215 human ensembl 74_37 +1 known missense c.514 p.H172Y 1.000 NULL smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM13 HGNC ENSG00000112238 50 0 0 45 21 31.8182 LACE1 0 genome.wustl.edu 37 6 108677980 108677980 + Nonsense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 108677980 108677980 G T SNP LACE1 ENST00000368977 human ensembl 74_37 +1 known nonsense c.604 p.E202* 1.000 pfam_ATPase_AFG1-like,superfamily_P-loop_NTPase pfam_ATPase_AFG1-like,superfamily_P-loop_NTPase - no_errors LACE1 HGNC ENSG00000135537 49 0 0 56 4 6.66667 ZBTB24 0 genome.wustl.edu 37 6 109803084 109803084 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 109803084 109803084 C T SNP ZBTB24 ENST00000230122 human ensembl 74_37 -1 known missense c.146 p.R49Q 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like 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 ZBTB24 HGNC ENSG00000112365 130 1 0.763359 85 21 19.8113 CDC40 0 genome.wustl.edu 37 6 110550125 110550125 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 110550125 110550125 A G SNP CDC40 ENST00000307731 human ensembl 74_37 +1 known missense c.1508 p.K503R 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 CDC40 HGNC ENSG00000168438 47 0 0 37 3 7.5 REV3L 0 genome.wustl.edu 37 6 111632452 111632452 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 111632452 111632452 C T SNP REV3L ENST00000358835 human ensembl 74_37 -1 known missense c.8615 p.R2872H 1.000 pfam_DNA-dir_DNA_pol_B_multi_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 118 0 0 66 59 47.2 NEDD9 0 genome.wustl.edu 37 6 11190484 11190484 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 11190484 11190484 C T SNP NEDD9 ENST00000379446 human ensembl 74_37 -1 known missense c.1618 p.D540N 1.000 pfam_Serine_rich pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NEDD9 HGNC ENSG00000111859 177 0 0 146 10 6.41026 MCM9 0 genome.wustl.edu 37 6 119238766 119238766 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 119238766 119238766 G A SNP MCM9 ENST00000316316 human ensembl 74_37 -1 known silent c.864 p.F288 1.000 smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,prints_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase - no_errors MCM9 HGNC ENSG00000111877 129 0 0 83 8 8.79121 ENPP3 0 genome.wustl.edu 37 6 132014691 132014691 + Nonsense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 132014691 132014691 C T SNP ENPP3 ENST00000357639 human ensembl 74_37 +1 known nonsense c.1339 p.R447* 1.000 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom - no_errors ENPP3 HGNC ENSG00000154269 120 0 0 77 32 29.3578 VNN1 0 genome.wustl.edu 37 6 133005621 133005621 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 133005621 133005621 T C SNP VNN1 ENST00000367928 human ensembl 74_37 -1 known silent c.1212 p.K404 0.019 pirsf_Biotinidase_euk pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase - no_errors VNN1 HGNC ENSG00000112299 93 0 0 63 12 16 SLC2A12 0 genome.wustl.edu 37 6 134323146 134323146 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 134323146 134323146 C T SNP SLC2A12 ENST00000275230 human ensembl 74_37 -1 known silent c.1689 p.E563 1.000 NULL pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt - no_errors SLC2A12 HGNC ENSG00000146411 57 0 0 58 4 6.45161 TXLNB 0 genome.wustl.edu 37 6 139569028 139569028 + Silent SNP T T G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 139569028 139569028 T G SNP TXLNB ENST00000358430 human ensembl 74_37 -1 known silent c.1096 p.R366 1.000 pfam_Taxilin_fam pfam_Taxilin_fam - no_errors TXLNB HGNC ENSG00000164440 93 0 0 62 4 6.06061 LTV1 0 genome.wustl.edu 37 6 144184652 144184652 + Silent SNP T T A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 144184652 144184652 T A SNP LTV1 ENST00000367576 human ensembl 74_37 +1 known silent c.1416 p.G472 0.783 NULL pfam_LTV - no_errors LTV1 HGNC ENSG00000135521 55 0 0 59 6 9.23077 SAMD5 0 genome.wustl.edu 37 6 147885588 147885588 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 147885588 147885588 G A SNP SAMD5 ENST00000367474 human ensembl 74_37 +1 known missense c.518 p.R173H 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD5 HGNC ENSG00000203727 138 0 0 95 26 21.4876 KATNA1 0 genome.wustl.edu 37 6 149953934 149953934 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 149953934 149953934 T C SNP KATNA1 ENST00000335647 human ensembl 74_37 -1 known missense c.281 p.E94G 1.000 NULL pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors KATNA1 HGNC ENSG00000186625 58 0 0 51 9 15 SYNE1 0 genome.wustl.edu 37 6 152676066 152676066 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 152676066 152676066 C T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.10654 p.V3552M 0.017 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 192 0 0 137 59 30.102 FBXO5 0 genome.wustl.edu 37 6 153296041 153296041 + Splice_Site SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 153296041 153296041 C A SNP FBXO5 ENST00000229758 human ensembl 74_37 -1 known splice_site c.818+1 e2+1 1.000 - - - no_errors FBXO5 HGNC ENSG00000112029 91 0 0 49 13 20.9677 JARID2 0 genome.wustl.edu 37 6 15410470 15410470 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 15410470 15410470 A G SNP JARID2 ENST00000341776 human ensembl 74_37 +1 known missense c.197 p.D66G 1.000 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 136 0 0 92 5 5.15464 RSPH3 0 genome.wustl.edu 37 6 159420643 159420643 + Silent SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 159420643 159420643 G T SNP RSPH3 ENST00000252655 human ensembl 74_37 -1 known silent c.366 p.T122 0.000 NULL pfam_Radial_spoke_3 - no_errors RSPH3 HGNC ENSG00000130363 139 1 0.714286 145 30 17.1429 LPAL2 0 genome.wustl.edu 37 6 160921912 160921912 + RNA SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 160921912 160921912 C T SNP LPAL2 ENST00000335388 human ensembl 74_37 -1 known rna NULL NULL 0.860 - - - no_errors LPAL2 HGNC ENSG00000213071 222 0 0 147 92 38.4937 LPA 0 genome.wustl.edu 37 6 160999616 160999616 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 160999616 160999616 C T SNP LPA ENST00000316300 human ensembl 74_37 -1 known silent c.4410 p.S1470 0.000 superfamily_Kringle-like pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors LPA HGNC ENSG00000198670 141 0 0 94 25 21.0084 RPS6KA2 0 genome.wustl.edu 37 6 166952165 166952165 + Silent SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 166952165 166952165 G T SNP RPS6KA2 ENST00000510118 human ensembl 74_37 -1 known silent c.282 p.S94 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors RPS6KA2 HGNC ENSG00000071242 120 0 0 79 36 31.3043 DLL1 0 genome.wustl.edu 37 6 170592536 170592536 + Nonsense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 170592536 170592536 G A SNP DLL1 ENST00000366756 human ensembl 74_37 -1 known nonsense c.1831 p.Q611* 0.985 NULL 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,pfscan_DSL,pfscan_EG-like_dom - no_errors DLL1 HGNC ENSG00000198719 198 0 0 169 10 5.58659 KIF13A 0 genome.wustl.edu 37 6 17817374 17817374 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 17817374 17817374 C T SNP KIF13A ENST00000259711 human ensembl 74_37 -1 known missense c.1877 p.R626Q 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13A HGNC ENSG00000137177 77 0 0 39 26 40 SCGN 0 genome.wustl.edu 37 6 25665221 25665221 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 25665221 25665221 C T SNP SCGN ENST00000377961 human ensembl 74_37 +1 known silent c.297 p.R99 0.476 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors SCGN HGNC ENSG00000079689 81 0 0 39 22 36.0656 BTN3A1 0 genome.wustl.edu 37 6 26413635 26413635 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 26413635 26413635 A G SNP BTN3A1 ENST00000289361 human ensembl 74_37 +1 known silent c.1257 p.K419 0.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTN3A1 HGNC ENSG00000026950 134 0 0 104 7 6.30631 HIST1H1B 0 genome.wustl.edu 37 6 27834922 27834922 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 27834922 27834922 G A SNP HIST1H1B ENST00000331442 human ensembl 74_37 -1 known missense c.386 p.A129V 0.805 NULL pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1B HGNC ENSG00000184357 260 0 0 198 18 8.33333 ZSCAN9 0 genome.wustl.edu 37 6 28200820 28200820 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 28200820 28200820 G A SNP ZSCAN9 ENST00000252207 human ensembl 74_37 +1 known missense c.1049 p.R350H 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 ZSCAN9 HGNC ENSG00000137185 44 0 0 25 18 41.8605 SERPINB6 0 genome.wustl.edu 37 6 2953378 2953378 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 2953378 2953378 A G SNP SERPINB6 ENST00000335686 human ensembl 74_37 -1 known missense c.473 p.L158S 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB6 HGNC ENSG00000124570 385 0 0 289 109 27.3869 GABBR1 0 genome.wustl.edu 37 6 29577082 29577082 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 29577082 29577082 C T SNP GABBR1 ENST00000377034 human ensembl 74_37 -1 known missense c.1783 p.V595I 1.000 prints_GPCR_3_GABA_rcpt_B,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 71 0 0 32 28 46.6667 ZFP57 0 genome.wustl.edu 37 6 29641137 29641137 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 29641137 29641137 G A SNP ZFP57 ENST00000488757 human ensembl 74_37 -1 known missense c.751 p.R251C 0.825 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 ZFP57 HGNC ENSG00000204644 117 0 0 78 53 40.458 HLA-L 0 genome.wustl.edu 37 6 30228254 30228254 + RNA SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 30228254 30228254 C T SNP HLA-L ENST00000463348 human ensembl 74_37 +1 known rna NULL NULL 0.012 - - - no_errors HLA-L HGNC ENSG00000243753 67 0 0 84 5 5.61798 NRM 0 genome.wustl.edu 37 6 30658014 30658014 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 30658014 30658014 C T SNP NRM ENST00000259953 human ensembl 74_37 -1 known missense c.140 p.R47H 0.043 NULL pfam_NnrU - no_errors NRM HGNC ENSG00000137404 42 0 0 33 13 28.2609 MDC1 0 genome.wustl.edu 37 6 30670606 30670606 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 30670606 30670606 C T SNP MDC1 ENST00000376406 human ensembl 74_37 -1 known missense c.5914 p.D1972N 0.999 superfamily_BRCT_dom pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 137 0 0 137 9 6.16438 PSORS1C1 0 genome.wustl.edu 37 6 31097424 31097424 + Splice_Site SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 31097424 31097424 T C SNP PSORS1C1 ENST00000259881 human ensembl 74_37 +1 known splice_site c.13+2 e1+2 0.006 - - - no_errors PSORS1C1 HGNC ENSG00000204540 76 0 0 54 6 10 HLA-C 0 genome.wustl.edu 37 6 31239405 31239405 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 31239405 31239405 A G SNP HLA-C ENST00000383329 human ensembl 74_37 -1 known missense c.314 p.L105P 0.001 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-C HGNC ENSG00000204525 82 0 0 73 6 7.59494 NOTCH4 0 genome.wustl.edu 37 6 32169930 32169930 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 32169930 32169930 G A SNP NOTCH4 ENST00000375023 human ensembl 74_37 -1 known silent c.3678 p.D1226 0.954 pirsf_Notch,pfam_Notch_dom,superfamily_Notch_dom,smart_Notch_dom,pfscan_Notch_dom pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,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_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 131 0 0 119 11 8.46154 HLA-DMB 0 genome.wustl.edu 37 6 32904940 32904940 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 32904940 32904940 T C SNP HLA-DMB ENST00000416244 human ensembl 74_37 -1 known missense c.631 p.M211V 0.000 NULL pfam_Ig_C1-set,pfam_MHC_II_b_N,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DMB HGNC ENSG00000242574 104 0 0 58 19 24.6753 SLC39A7 0 genome.wustl.edu 37 6 33169607 33169607 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 33169607 33169607 G A SNP SLC39A7 ENST00000374675 human ensembl 74_37 +1 known missense c.497 p.R166H 1.000 pfam_ZIP pfam_ZIP,prints_Kininogen - no_errors SLC39A7 HGNC ENSG00000112473 139 0 0 74 35 32.1101 ITPR3 0 genome.wustl.edu 37 6 33661475 33661475 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 33661475 33661475 T C SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known missense c.7778 p.M2593T 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 37 0 0 35 5 12.5 SCUBE3 0 genome.wustl.edu 37 6 35205683 35205683 + Silent SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 35205683 35205683 C A SNP SCUBE3 ENST00000394681 human ensembl 74_37 +1 known silent c.765 p.T255 0.987 smart_EG-like_dom,prints_Thrombomodulin pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Thrombomodulin - no_errors SCUBE3 HGNC ENSG00000146197 175 0 0 93 52 35.8621 LHFPL5 0 genome.wustl.edu 37 6 35782386 35782386 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 35782386 35782386 G A SNP LHFPL5 ENST00000360215 human ensembl 74_37 +1 known missense c.476 p.R159H 1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL5 HGNC ENSG00000197753 111 0 0 89 5 5.31915 MAPK13 0 genome.wustl.edu 37 6 36099077 36099077 + Missense_Mutation SNP A A C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 36099077 36099077 A C SNP MAPK13 ENST00000211287 human ensembl 74_37 +1 known missense c.149 p.K50T 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_MAPK_p38,prints_MAPK_JNK - no_errors MAPK13 HGNC ENSG00000156711 96 0 0 99 7 6.60377 C6orf222 0 genome.wustl.edu 37 6 36291215 36291215 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 36291215 36291215 C T SNP C6orf222 ENST00000437635 human ensembl 74_37 -1 known silent c.1326 p.A442 0.556 NULL NULL - no_errors C6orf222 HGNC ENSG00000189325 301 0 0 142 61 30.0493 SRSF3 0 genome.wustl.edu 37 6 36566642 36566642 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 36566642 36566642 C T SNP SRSF3 ENST00000373715 human ensembl 74_37 +1 known missense c.223 p.R75C 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF3 HGNC ENSG00000112081 119 0 0 96 7 6.79612 GLO1 0 genome.wustl.edu 37 6 38670752 38670752 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 38670752 38670752 T C SNP GLO1 ENST00000373365 human ensembl 74_37 -1 known missense c.79 p.T27A 1.000 tigrfam_Glyoxalase_1 pfam_Glyas_Fos-R_dOase_dom,tigrfam_Glyoxalase_1 - no_errors GLO1 HGNC ENSG00000124767 40 0 0 34 18 34.6154 DNAH8 0 genome.wustl.edu 37 6 38791451 38791451 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 38791451 38791451 T C SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known silent c.3183 p.L1061 1.000 NULL 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 DNAH8 HGNC ENSG00000124721 52 0 0 14 18 56.25 MOCS1 0 genome.wustl.edu 37 6 39877590 39877590 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 39877590 39877590 C T SNP MOCS1 ENST00000340692 human ensembl 74_37 -1 known missense c.1091 p.R364Q 0.999 pfam_Mob_synth_C,tigrfam_MoaA pfam_Mopterin_CF_biosynth-C_dom,pfam_Mob_synth_C,pfam_rSAM,superfamily_Mopterin_CF_biosynth-C_dom,smart_Elp3/MiaB/NifB,tigrfam_MoaA,tigrfam_Mo_CF_biosynth-C - no_errors MOCS1 HGNC ENSG00000124615 179 0 0 88 55 38.4615 IRF4 0 genome.wustl.edu 37 6 398884 398884 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 398884 398884 G A SNP IRF4 ENST00000380956 human ensembl 74_37 +1 known missense c.694 p.G232R 0.985 NULL pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF4 HGNC ENSG00000137265 67 0 0 15 11 42.3077 TREML1 0 genome.wustl.edu 37 6 41121642 41121642 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 41121642 41121642 G A SNP TREML1 ENST00000426005 human ensembl 74_37 -1 known missense c.230 p.T77M 0.000 pfam_Ig_V-set pfam_Ig_V-set - no_errors TREML1 HGNC ENSG00000161911 70 0 0 38 33 46.4789 MRPS10 0 genome.wustl.edu 37 6 42176060 42176060 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 42176060 42176060 T C SNP MRPS10 ENST00000053468 human ensembl 74_37 -1 known silent c.573 p.T191 0.000 NULL pfam_Ribosomal_S10_dom,superfamily_Ribosomal_S10_dom - no_errors MRPS10 HGNC ENSG00000048544 318 0 0 114 77 40.3141 KLC4 0 genome.wustl.edu 37 6 43039913 43039913 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 43039913 43039913 C A SNP KLC4 ENST00000259708 human ensembl 74_37 +1 known missense c.1462 p.L488M 1.000 smart_TPR_repeat pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light - no_errors KLC4 HGNC ENSG00000137171 121 0 0 67 5 6.94444 CUL9 0 genome.wustl.edu 37 6 43154719 43154719 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 43154719 43154719 C T SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known missense c.1273 p.R425C 1.000 pfam_CPH_domain 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 72 0 0 31 30 49.1803 CUL9 0 genome.wustl.edu 37 6 43166454 43166454 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 43166454 43166454 C T SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known silent c.2911 p.L971 0.896 superfamily_ARM-type_fold 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 209 0 0 162 14 7.95455 ZNF318 0 genome.wustl.edu 37 6 43310600 43310600 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 43310600 43310600 A G SNP ZNF318 ENST00000361428 human ensembl 74_37 -1 known silent c.3090 p.N1030 0.958 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ENSG00000171467 55 0 0 37 4 9.7561 ABCC10 0 genome.wustl.edu 37 6 43403984 43403984 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 43403984 43403984 A G SNP ABCC10 ENST00000372530 human ensembl 74_37 +1 known missense c.1874 p.K625R 1.000 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 143 0 0 68 23 25.2747 SUPT3H 0 genome.wustl.edu 37 6 45333006 45333006 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 45333006 45333006 A G SNP SUPT3H ENST00000306867 human ensembl 74_37 -1 known silent c.33 p.T11 0.832 NULL pfam_TFIID-18,superfamily_Histone-fold - no_errors SUPT3H HGNC ENSG00000196284 89 0 0 47 12 20.339 RUNX2 0 genome.wustl.edu 37 6 45515026 45515026 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 45515026 45515026 T C SNP RUNX2 ENST00000352853 human ensembl 74_37 +1 known missense c.1754 p.V585A 1.000 pfam_RunxI_C_dom pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pfscan_Runt_dom,prints_AML1_Runt - no_errors RUNX2 HGNC ENSG00000124813 146 0 0 95 9 8.65385 MEP1A 0 genome.wustl.edu 37 6 46802479 46802479 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 46802479 46802479 G A SNP MEP1A ENST00000230588 human ensembl 74_37 +1 known missense c.1774 p.D592N 1.000 pirsf_Pept_M12A_Meprin,pfam_MATH,superfamily_TRAF-like,pfscan_MATH pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EG-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom - no_errors MEP1A HGNC ENSG00000112818 103 0 0 33 16 32.6531 DEFB113 0 genome.wustl.edu 37 6 49936542 49936542 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 49936542 49936542 T C SNP DEFB113 ENST00000398718 human ensembl 74_37 -1 known missense c.97 p.R33G 0.617 NULL NULL - no_errors DEFB113 HGNC ENSG00000214642 34 0 0 27 3 10 GCLC 0 genome.wustl.edu 37 6 53364900 53364900 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 53364900 53364900 C T SNP GCLC ENST00000229416 human ensembl 74_37 -1 known missense c.1645 p.V549M 1.000 pfam_GCS pfam_GCS - no_errors GCLC HGNC ENSG00000001084 64 0 0 61 7 10.2941 FAM83B 0 genome.wustl.edu 37 6 54806576 54806576 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 54806576 54806576 G A SNP FAM83B ENST00000306858 human ensembl 74_37 +1 known missense c.2807 p.R936H 1.000 NULL pfam_DUF1669 - no_errors FAM83B HGNC ENSG00000168143 103 0 0 69 6 8 PRIM2 0 genome.wustl.edu 37 6 57472369 57472369 + RNA SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 57472369 57472369 C A SNP PRIM2 ENST00000389488 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PRIM2 HGNC ENSG00000146143 67 0 0 52 8 13.3333 F13A1 0 genome.wustl.edu 37 6 6266932 6266932 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 6266932 6266932 G A SNP F13A1 ENST00000264870 human ensembl 74_37 -1 known missense c.430 p.R144W 0.999 pfam_Transglutaminase_N,superfamily_Ig_E-set pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors F13A1 HGNC ENSG00000124491 91 0 0 44 37 45.679 LY86 0 genome.wustl.edu 37 6 6654835 6654835 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 6654835 6654835 C T SNP LY86 ENST00000230568 human ensembl 74_37 +1 known missense c.464 p.A155V 0.999 pfam_ML_dom,superfamily_Ig_E-set,smart_ML_dom pfam_ML_dom,superfamily_Ig_E-set,smart_ML_dom - no_errors LY86 HGNC ENSG00000112799 50 0 0 20 10 33.3333 ENSG00000211530 0 genome.wustl.edu 37 6 72294850 72294850 + RNA SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 72294850 72294850 A G SNP ENSG00000211530 ENST00000390196 human ensembl 74_37 +1 novel rna NULL NULL 0.555 - - - no_errors AL354933.1 Clone_based_ensembl_gene ENSG00000211530 74 0 0 59 44 42.7184 RREB1 0 genome.wustl.edu 37 6 7247433 7247433 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 7247433 7247433 C T SNP RREB1 ENST00000379938 human ensembl 74_37 +1 known missense c.4750 p.R1584W 0.418 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 46 0 0 30 13 30.2326 RIMS1 0 genome.wustl.edu 37 6 72892670 72892670 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 72892670 72892670 A G SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.1496 p.D499G 1.000 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 12 0 0 12 4 25 COL12A1 0 genome.wustl.edu 37 6 75831103 75831103 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 75831103 75831103 A G SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.7001 p.I2334T 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 134 0 0 50 58 53.7037 COL12A1 0 genome.wustl.edu 37 6 75848669 75848669 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 75848669 75848669 G A SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.4966 p.P1656S 1.000 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 112 0 0 50 13 20.6349 DSP 0 genome.wustl.edu 37 6 7585773 7585773 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 7585773 7585773 G A SNP DSP ENST00000379802 human ensembl 74_37 +1 known missense c.8278 p.A2760T 0.901 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 130 0 0 160 39 19.598 COL12A1 0 genome.wustl.edu 37 6 75862092 75862092 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 75862092 75862092 A G SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known silent c.3672 p.R1224 0.793 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 63 0 0 57 4 6.55738 FILIP1 0 genome.wustl.edu 37 6 76024861 76024861 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 76024861 76024861 A G SNP FILIP1 ENST00000237172 human ensembl 74_37 -1 known silent c.687 p.N229 0.516 pfam_Cortactin-binding_p2_N pfam_Cortactin-binding_p2_N,prints_Tropomyosin - no_errors FILIP1 HGNC ENSG00000118407 74 0 0 39 18 31.5789 HTR1B 0 genome.wustl.edu 37 6 78172447 78172447 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 78172447 78172447 A G SNP HTR1B ENST00000369947 human ensembl 74_37 -1 known missense c.674 p.I225T 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,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 55 0 0 80 19 19.1919 FAM46A 0 genome.wustl.edu 37 6 82459685 82459685 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 82459685 82459685 A G SNP FAM46A ENST00000369754 human ensembl 74_37 -1 known silent c.1113 p.Y371 1.000 pfam_DUF1693 pfam_DUF1693 - no_errors FAM46A HGNC ENSG00000112773 77 0 0 25 27 51.9231 DOPEY1 0 genome.wustl.edu 37 6 83828616 83828616 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 83828616 83828616 C T SNP DOPEY1 ENST00000349129 human ensembl 74_37 +1 known missense c.790 p.P264S 1.000 pfam_Dopey_N,superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 152 0 0 126 8 5.97015 KIAA1009 0 genome.wustl.edu 37 6 84930881 84930881 + Missense_Mutation SNP A A T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 84930881 84930881 A T SNP KIAA1009 ENST00000403245 human ensembl 74_37 -1 known missense c.66 p.D22E 1.000 NULL NULL - no_errors KIAA1009 HGNC ENSG00000135315 42 0 0 43 17 28.3333 SYNCRIP 0 genome.wustl.edu 37 6 86324688 86324688 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 86324688 86324688 G A SNP SYNCRIP ENST00000369622 human ensembl 74_37 -1 known missense c.1658 p.A553V 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 SYNCRIP HGNC ENSG00000135316 241 0 0 317 17 5.08982 ZNF292 0 genome.wustl.edu 37 6 87966824 87966824 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 87966824 87966824 A G SNP ZNF292 ENST00000369577 human ensembl 74_37 +1 known silent c.3477 p.S1159 0.938 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 52 0 0 23 18 43.9024 MMS22L 0 genome.wustl.edu 37 6 97613299 97613299 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 97613299 97613299 G A SNP MMS22L ENST00000275053 human ensembl 74_37 -1 known missense c.3044 p.P1015L 0.995 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MMS22L HGNC ENSG00000146263 39 0 0 35 41 53.9474 NYAP1 0 genome.wustl.edu 37 7 100084511 100084511 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 100084511 100084511 G A SNP NYAP1 ENST00000423930 human ensembl 74_37 +1 known missense c.136 p.V46M 0.981 NULL NULL - no_errors NYAP1 HGNC ENSG00000166924 13 0 0 9 3 25 MOSPD3 0 genome.wustl.edu 37 7 100212592 100212592 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 100212592 100212592 G A SNP MOSPD3 ENST00000223054 human ensembl 74_37 +1 known missense c.614 p.S205N 1.000 NULL pfam_MSP_dom,superfamily_PapD-like,pfscan_MSP_dom - no_errors MOSPD3 HGNC ENSG00000106330 199 0 0 120 36 23.0769 ZAN 0 genome.wustl.edu 37 7 100369551 100369551 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 100369551 100369551 A G SNP ZAN ENST00000546292 human ensembl 74_37 +1 known missense c.5333 p.D1778G 0.001 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 49 0 0 23 15 39.4737 ACHE 0 genome.wustl.edu 37 7 100491090 100491090 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 100491090 100491090 C A SNP ACHE ENST00000302913 human ensembl 74_37 -1 known missense c.764 p.R255M 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors ACHE HGNC ENSG00000087085 64 0 0 39 37 48.6842 ORAI2 0 genome.wustl.edu 37 7 102087351 102087351 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 102087351 102087351 C A SNP ORAI2 ENST00000356387 human ensembl 74_37 +1 known missense c.617 p.P206H 0.996 pfam_CRAC_channel pfam_CRAC_channel - no_errors ORAI2 HGNC ENSG00000160991 38 0 0 34 21 38.1818 RELN 0 genome.wustl.edu 37 7 103123374 103123374 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 103123374 103123374 C T SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.10226 p.R3409H 1.000 NULL pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 110 1 0.900901 49 27 35.5263 LHFPL3 0 genome.wustl.edu 37 7 103969331 103969331 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 103969331 103969331 C T SNP LHFPL3 ENST00000535008 human ensembl 74_37 +1 known missense c.104 p.A35V 1.000 NULL pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL3 HGNC ENSG00000187416 56 0 0 47 32 40.5063 COG5 0 genome.wustl.edu 37 7 106876963 106876963 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 106876963 106876963 G A SNP COG5 ENST00000297135 human ensembl 74_37 -1 known missense c.2116 p.R706C 1.000 NULL pfam_Cog5 - no_errors COG5 HGNC ENSG00000164597 115 0 0 55 19 25.6757 LAMB1 0 genome.wustl.edu 37 7 107615527 107615527 + Silent SNP A A C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 107615527 107615527 A C SNP LAMB1 ENST00000222399 human ensembl 74_37 -1 known silent c.1386 p.P462 0.998 pfam_EGF_laminin,smart_EGF_laminin,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 51 0 0 28 3 9.67742 LRRN3 0 genome.wustl.edu 37 7 110762969 110762969 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 110762969 110762969 T C SNP LRRN3 ENST00000308478 human ensembl 74_37 +1 known silent c.141 p.Y47 0.990 pfam_LRR-contain_N,smart_LRR-contain_N pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,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 LRRN3 HGNC ENSG00000173114 146 0 0 93 5 5.10204 THSD7A 0 genome.wustl.edu 37 7 11445994 11445994 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 11445994 11445994 G A SNP THSD7A ENST00000423059 human ensembl 74_37 -1 known silent c.4170 p.D1390 0.790 smart_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 115 0 0 68 19 21.8391 THSD7A 0 genome.wustl.edu 37 7 11464332 11464332 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 11464332 11464332 C T SNP THSD7A ENST00000423059 human ensembl 74_37 -1 known missense c.3374 p.R1125Q 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 219 0 0 100 43 30.0699 TES 0 genome.wustl.edu 37 7 115890281 115890281 + Missense_Mutation SNP T T A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 115890281 115890281 T A SNP TES ENST00000358204 human ensembl 74_37 +1 known missense c.433 p.Y145N 1.000 pfam_PET_domain pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors TES HGNC ENSG00000135269 96 0 0 60 31 34.0659 KCND2 0 genome.wustl.edu 37 7 120385856 120385856 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 120385856 120385856 A G SNP KCND2 ENST00000331113 human ensembl 74_37 +1 known missense c.1490 p.Q497R 1.000 pfam_K_chnl_volt-dep_Kv4_C pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCND2 HGNC ENSG00000184408 66 0 0 26 15 36.5854 RNF148 0 genome.wustl.edu 37 7 122342486 122342486 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 122342486 122342486 G A SNP RNF148 ENST00000434824 human ensembl 74_37 -1 known missense c.319 p.R107C 0.882 pfam_Protease-assoc_domain pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF148 HGNC ENSG00000235631 187 0 0 81 62 43.3566 PAX4 0 genome.wustl.edu 37 7 127251690 127251690 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 127251690 127251690 A G SNP PAX4 ENST00000341640 human ensembl 74_37 -1 known missense c.788 p.L263P 0.312 NULL pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX4 HGNC ENSG00000106331 106 1 0.934579 83 20 19.4175 ENSG00000242902 0 genome.wustl.edu 37 7 128491458 128491458 + RNA SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 128491458 128491458 G A SNP ENSG00000242902 ENST00000469965 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-309L24.2 Clone_based_vega_gene ENSG00000242902 84 0 0 54 21 28 CALD1 0 genome.wustl.edu 37 7 134618718 134618718 + Nonsense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 134618718 134618718 C T SNP CALD1 ENST00000361675 human ensembl 74_37 +1 novel nonsense c.1198 p.Q400* 0.092 pfam_Caldesmon_LSP pfam_Caldesmon_LSP,prints_Caldesmon - no_errors CALD1 HGNC ENSG00000122786 59 0 0 72 6 7.69231 KIAA1549 0 genome.wustl.edu 37 7 138601572 138601572 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 138601572 138601572 C T SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known missense c.2800 p.D934N 0.000 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 32 0 0 22 15 40.5405 TTC26 0 genome.wustl.edu 37 7 138845785 138845785 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 138845785 138845785 C T SNP TTC26 ENST00000474035 human ensembl 74_37 +1 novel missense c.809 p.P270L 0.000 NULL smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC26 HGNC ENSG00000105948 48 0 0 18 11 37.931 MKRN1 0 genome.wustl.edu 37 7 140155024 140155024 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 140155024 140155024 C T SNP MKRN1 ENST00000463142 human ensembl 74_37 -1 putative missense c.65 p.R22H 0.972 NULL NULL - no_errors MKRN1 HGNC ENSG00000133606 163 0 0 86 30 25.8621 DENND2A 0 genome.wustl.edu 37 7 140223218 140223218 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 140223218 140223218 C T SNP DENND2A ENST00000275884 human ensembl 74_37 -1 known missense c.2554 p.D852N 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 DENND2A HGNC ENSG00000146966 45 0 0 35 7 16.6667 MGAM 0 genome.wustl.edu 37 7 141783208 141783208 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 141783208 141783208 A G SNP MGAM ENST00000475668 human ensembl 74_37 +1 putative missense c.6376 p.T2126A 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 31 0 0 9 4 30.7692 OR9A2 0 genome.wustl.edu 37 7 142723327 142723327 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 142723327 142723327 C T SNP OR9A2 ENST00000350513 human ensembl 74_37 -1 known missense c.893 p.R298Q 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9A2 HGNC ENSG00000179468 118 0 0 72 35 32.7103 EPHA1 0 genome.wustl.edu 37 7 143091335 143091335 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 143091335 143091335 C A SNP EPHA1 ENST00000275815 human ensembl 74_37 -1 known missense c.2454 p.E818D 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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA1 HGNC ENSG00000146904 170 0 0 118 8 6.34921 OR2A5 0 genome.wustl.edu 37 7 143748294 143748294 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 143748294 143748294 C A SNP OR2A5 ENST00000408906 human ensembl 74_37 +1 known missense c.800 p.P267H 0.975 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2A5 HGNC ENSG00000221836 146 0 0 131 8 5.7554 ZNF777 0 genome.wustl.edu 37 7 149129956 149129956 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 149129956 149129956 C T SNP ZNF777 ENST00000247930 human ensembl 74_37 -1 known silent c.1407 p.P469 0.436 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF777 HGNC ENSG00000196453 24 0 0 15 3 16.6667 KRBA1 0 genome.wustl.edu 37 7 149430469 149430469 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 149430469 149430469 C T SNP KRBA1 ENST00000255992 human ensembl 74_37 +1 known missense c.2423 p.A808V 0.897 NULL NULL - no_errors KRBA1 HGNC ENSG00000133619 31 0 0 35 5 12.5 KRBA1 0 genome.wustl.edu 37 7 149430489 149430489 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 149430489 149430489 C T SNP KRBA1 ENST00000255992 human ensembl 74_37 +1 known missense c.2443 p.R815W 0.002 NULL NULL - no_errors KRBA1 HGNC ENSG00000133619 19 0 0 26 3 10.3448 SSPO 0 genome.wustl.edu 37 7 149509077 149509077 + RNA SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 149509077 149509077 G A SNP SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors SSPO HGNC ENSG00000197558 57 0 0 47 27 36.4865 ZNF862 0 genome.wustl.edu 37 7 149559064 149559064 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 149559064 149559064 G A SNP ZNF862 ENST00000223210 human ensembl 74_37 +1 known missense c.2815 p.D939N 0.804 NULL pfam_Krueppel-associated_box,pfam_HATC_dom_C,superfamily_Krueppel-associated_box,superfamily_RNaseH-like_dom,smart_Krueppel-associated_box,smart_Znf_TTF,pfscan_Krueppel-associated_box - no_errors ZNF862 HGNC ENSG00000106479 205 0 0 122 73 37.4359 REPIN1 0 genome.wustl.edu 37 7 150069094 150069094 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 150069094 150069094 G A SNP REPIN1 ENST00000489432 human ensembl 74_37 +1 known missense c.935 p.R312H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors REPIN1 HGNC ENSG00000214022 85 0 0 39 16 29.0909 GIMAP8 0 genome.wustl.edu 37 7 150174636 150174636 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 150174636 150174636 G A SNP GIMAP8 ENST00000307271 human ensembl 74_37 +1 known missense c.1766 p.R589H 0.000 pfam_AIG1,superfamily_P-loop_NTPase pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP8 HGNC ENSG00000171115 129 0 0 78 45 36.5854 NOS3 0 genome.wustl.edu 37 7 150698665 150698665 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 150698665 150698665 A G SNP NOS3 ENST00000297494 human ensembl 74_37 +1 known missense c.1462 p.T488A 0.004 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 NOS3 HGNC ENSG00000164867 366 0 0 200 52 20.6349 SLC4A2 0 genome.wustl.edu 37 7 150771577 150771577 + Splice_Site SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 150771577 150771577 T C SNP SLC4A2 ENST00000413384 human ensembl 74_37 +1 known splice_site c.2880+2 e17+2 1.000 - - - no_errors SLC4A2 HGNC ENSG00000164889 81 0 0 60 20 25 ASB10 0 genome.wustl.edu 37 7 150878271 150878271 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 150878271 150878271 C T SNP ASB10 ENST00000422024 human ensembl 74_37 -1 known missense c.994 p.A332T 0.005 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB10 HGNC ENSG00000146926 45 0 0 21 20 48.7805 KMT2C 0 genome.wustl.edu 37 7 151884806 151884806 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 151884806 151884806 T C SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.4787 p.D1596G 0.906 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_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 105 0 0 47 29 38.1579 RBM33 0 genome.wustl.edu 37 7 155537713 155537713 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 155537713 155537713 G A SNP RBM33 ENST00000401878 human ensembl 74_37 +1 known missense c.2396 p.R799H 1.000 NULL smart_RRM_dom - no_errors RBM33 HGNC ENSG00000184863 30 0 0 8 4 33.3333 MEOX2 0 genome.wustl.edu 37 7 15725656 15725656 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 15725656 15725656 C T SNP MEOX2 ENST00000262041 human ensembl 74_37 -1 known silent c.372 p.P124 0.306 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors MEOX2 HGNC ENSG00000106511 22 0 0 21 9 30 ESYT2 0 genome.wustl.edu 37 7 158529777 158529777 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 158529777 158529777 G A SNP ESYT2 ENST00000251527 human ensembl 74_37 -1 known silent c.2442 p.H814 0.847 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors ESYT2 HGNC ENSG00000117868 166 0 0 90 19 17.4312 TMEM184A 0 genome.wustl.edu 37 7 1587535 1587535 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 1587535 1587535 C T SNP TMEM184A ENST00000297477 human ensembl 74_37 -1 known silent c.855 p.P285 0.012 pfam_Ost-alpha pfam_Ost-alpha - no_errors TMEM184A HGNC ENSG00000164855 8 0 0 14 4 22.2222 TWIST1 0 genome.wustl.edu 37 7 19156656 19156656 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 19156656 19156656 C T SNP TWIST1 ENST00000242261 human ensembl 74_37 -1 known missense c.289 p.G97S 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TWIST1 HGNC ENSG00000122691 17 0 0 10 5 33.3333 MAD1L1 0 genome.wustl.edu 37 7 2020096 2020096 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 2020096 2020096 G A SNP MAD1L1 ENST00000265854 human ensembl 74_37 -1 known silent c.1497 p.D499 0.000 pfam_Mad1 pfam_Mad1 - no_errors MAD1L1 HGNC ENSG00000002822 24 0 0 21 4 16 ABCB5 0 genome.wustl.edu 37 7 20767944 20767944 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 20767944 20767944 C T SNP ABCB5 ENST00000258738 human ensembl 74_37 +1 known silent c.1398 p.T466 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB5 HGNC ENSG00000004846 174 0 0 65 25 27.7778 CDCA7L 0 genome.wustl.edu 37 7 21985416 21985416 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 21985416 21985416 A G SNP CDCA7L ENST00000406877 human ensembl 74_37 -1 known silent c.7 p.L3 0.897 NULL pfam_Znf-4CXXC_R1 - no_errors CDCA7L HGNC ENSG00000164649 62 0 0 40 5 11.1111 IGF2BP3 0 genome.wustl.edu 37 7 23352017 23352017 + Silent SNP A A T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 23352017 23352017 A T SNP IGF2BP3 ENST00000258729 human ensembl 74_37 -1 known silent c.1704 p.A568 0.990 NULL 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 164 0 0 63 25 28.4091 BRAT1 0 genome.wustl.edu 37 7 2577869 2577869 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 2577869 2577869 T C SNP BRAT1 ENST00000340611 human ensembl 74_37 -1 known missense c.2300 p.Q767R 0.466 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors BRAT1 HGNC ENSG00000106009 38 0 0 37 5 11.9048 TRIL 0 genome.wustl.edu 37 7 28996376 28996376 + RNA SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 28996376 28996376 C T SNP TRIL ENST00000322982 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TRIL HGNC ENSG00000176734 71 0 0 77 5 6.09756 NOD1 0 genome.wustl.edu 37 7 30492472 30492472 + Silent SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 30492472 30492472 G T SNP NOD1 ENST00000222823 human ensembl 74_37 -1 known silent c.561 p.T187 0.000 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD1 HGNC ENSG00000106100 84 0 0 53 35 39.7727 NOD1 0 genome.wustl.edu 37 7 30492520 30492520 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 30492520 30492520 A G SNP NOD1 ENST00000222823 human ensembl 74_37 -1 known silent c.513 p.N171 0.617 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD1 HGNC ENSG00000106100 98 0 0 74 13 14.9425 CRHR2 0 genome.wustl.edu 37 7 30695543 30695543 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 30695543 30695543 C A SNP CRHR2 ENST00000348438 human ensembl 74_37 -1 known missense c.998 p.R333M 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF2_rcpt,prints_GPCR_2_diuretic_rcpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors CRHR2 HGNC ENSG00000106113 147 0 0 110 8 6.77966 PDE1C 0 genome.wustl.edu 37 7 31829827 31829827 + RNA SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 31829827 31829827 T C SNP PDE1C ENST00000479980 human ensembl 74_37 -1 known rna NULL NULL 0.972 - - - no_errors PDE1C HGNC ENSG00000154678 91 0 0 17 5 22.7273 SEPT7 0 genome.wustl.edu 37 7 35913333 35913333 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 35913333 35913333 C T SNP SEPT7 ENST00000399034 human ensembl 74_37 +1 known missense c.463 p.P155S 1.000 pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin,prints_Septin7 - no_errors SEPT7 HGNC ENSG00000122545 58 0 0 13 8 38.0952 EEPD1 0 genome.wustl.edu 37 7 36193947 36193947 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 36193947 36193947 T C SNP EEPD1 ENST00000242108 human ensembl 74_37 +1 known missense c.14 p.L5P 1.000 NULL pfam_HhH_motif,pfam_Endo/exonuclease/phosphatase,pfam_GspK,superfamily_Endo/exonuclease/phosphatase,superfamily_RuvA_2-like,smart_Hlx-hairpin-Hlx_DNA-bd_motif,tigrfam_Competence_ComEA_HhH - no_errors EEPD1 HGNC ENSG00000122547 30 0 0 33 13 28.2609 KIAA0895 0 genome.wustl.edu 37 7 36366483 36366483 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 36366483 36366483 G A SNP KIAA0895 ENST00000297063 human ensembl 74_37 -1 known silent c.1449 p.T483 0.050 pfam_DUF1704 pfam_DUF1704 - no_errors KIAA0895 HGNC ENSG00000164542 108 1 0.917431 29 31 51.6667 SDK1 0 genome.wustl.edu 37 7 4050672 4050672 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 4050672 4050672 G A SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.2206 p.A736T 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_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 62 0 0 29 18 38.2979 SDK1 0 genome.wustl.edu 37 7 4169604 4169604 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 4169604 4169604 C T SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.4004 p.T1335M 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_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 88 0 0 62 49 44.1441 SDK1 0 genome.wustl.edu 37 7 4218216 4218216 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 4218216 4218216 C T SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.5096 p.A1699V 0.999 superfamily_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 113 0 0 109 8 6.83761 HECW1 0 genome.wustl.edu 37 7 43590143 43590143 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 43590143 43590143 C T SNP HECW1 ENST00000395891 human ensembl 74_37 +1 known missense c.4348 p.R1450C 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW1 HGNC ENSG00000002746 27 0 0 25 12 32.4324 BLVRA 0 genome.wustl.edu 37 7 43843448 43843448 + Splice_Site SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 43843448 43843448 T C SNP BLVRA ENST00000265523 human ensembl 74_37 +1 known splice_site c.632+2 e6+2 1.000 - - - no_errors BLVRA HGNC ENSG00000106605 84 0 0 82 20 19.6078 LINC00957 0 genome.wustl.edu 37 7 44078881 44078881 + RNA SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 44078881 44078881 A G SNP LINC00957 ENST00000416824 human ensembl 74_37 +1 known rna NULL NULL 0.111 - - - no_errors LINC00957 HGNC ENSG00000235314 8 0 0 12 6 33.3333 OGDH 0 genome.wustl.edu 37 7 44713507 44713507 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 44713507 44713507 G A SNP OGDH ENST00000222673 human ensembl 74_37 +1 known missense c.755 p.R252Q 1.000 pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDH HGNC ENSG00000105953 80 0 0 50 31 38.2716 AP5Z1 0 genome.wustl.edu 37 7 4821214 4821214 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 4821214 4821214 C T SNP AP5Z1 ENST00000348624 human ensembl 74_37 +1 known silent c.195 p.C65 0.000 NULL NULL - no_errors AP5Z1 HGNC ENSG00000242802 46 0 0 30 7 18.9189 MMD2 0 genome.wustl.edu 37 7 4947179 4947179 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 4947179 4947179 G T SNP MMD2 ENST00000404774 human ensembl 74_37 -1 known missense c.661 p.L221M 0.520 pfam_HlyIII-related pfam_HlyIII-related - no_errors MMD2 HGNC ENSG00000136297 94 0 0 93 5 5.10204 FBXL18 0 genome.wustl.edu 37 7 5541068 5541068 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 5541068 5541068 C T SNP FBXL18 ENST00000453700 human ensembl 74_37 -1 known missense c.832 p.A278T 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXL18 HGNC ENSG00000155034 30 0 0 33 8 19.5122 FBXL18 0 genome.wustl.edu 37 7 5541070 5541070 + Missense_Mutation SNP C C G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 5541070 5541070 C G SNP FBXL18 ENST00000453700 human ensembl 74_37 -1 known missense c.830 p.G277A 0.998 NULL pfam_F-box_dom,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXL18 HGNC ENSG00000155034 33 0 0 33 8 19.5122 AIMP2 0 genome.wustl.edu 37 7 6063002 6063002 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 6063002 6063002 C T SNP AIMP2 ENST00000223029 human ensembl 74_37 +1 known missense c.643 p.R215C 0.721 NULL superfamily_Glutathione-S-Trfase_C-like - no_errors AIMP2 HGNC ENSG00000106305 79 0 0 64 4 5.88235 USP42 0 genome.wustl.edu 37 7 6193579 6193579 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 6193579 6193579 C T SNP USP42 ENST00000306177 human ensembl 74_37 +1 known silent c.2394 p.P798 0.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP42 HGNC ENSG00000106346 37 0 0 30 10 25 ERV3-1 0 genome.wustl.edu 37 7 64467055 64467055 + RNA SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 64467055 64467055 C T SNP ERV3-1 ENST00000528878 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors ERV3-1 HGNC ENSG00000213462 34 0 0 19 14 42.4242 ASL 0 genome.wustl.edu 37 7 65554148 65554148 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 65554148 65554148 C T SNP ASL ENST00000304874 human ensembl 74_37 +1 known missense c.904 p.R302C 0.991 pfam_Fumarate_lyase_N,superfamily_L-Aspartase-like,tigrfam_Argininosuccinate_lyase pfam_Fumarate_lyase_N,superfamily_L-Aspartase-like,prints_Fumarate_lyase_fam,tigrfam_Argininosuccinate_lyase - no_errors ASL HGNC ENSG00000126522 91 0 0 59 27 31.3953 TYW1 0 genome.wustl.edu 37 7 66703392 66703392 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 66703392 66703392 G A SNP TYW1 ENST00000359626 human ensembl 74_37 +1 known missense c.2075 p.S692N 0.995 NULL pfam_rSAM,pfam_Flavodoxin/NO_synth,pfam_tRNA_wybutosine-synth,pfscan_Flavodoxin/NO_synth,prints_Flavdoxin - no_errors TYW1 HGNC ENSG00000198874 73 0 0 26 14 35 BAZ1B 0 genome.wustl.edu 37 7 72892597 72892597 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 72892597 72892597 A G SNP BAZ1B ENST00000339594 human ensembl 74_37 -1 known silent c.1194 p.S398 0.434 NULL pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1B HGNC ENSG00000009954 99 0 0 72 6 7.69231 WBSCR22 0 genome.wustl.edu 37 7 73108001 73108001 + Splice_Site SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 73108001 73108001 T C SNP WBSCR22 ENST00000265758 human ensembl 74_37 +1 known splice_site c.642+2 e9+2 1.000 - - - no_errors WBSCR22 HGNC ENSG00000071462 190 0 0 128 36 21.9512 WBSCR27 0 genome.wustl.edu 37 7 73256349 73256349 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 73256349 73256349 T C SNP WBSCR27 ENST00000297873 human ensembl 74_37 -1 known missense c.122 p.Q41R 1.000 pfam_UbiE/COQ5_MeTrFase pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase - no_errors WBSCR27 HGNC ENSG00000165171 82 0 0 39 29 42.6471 CLIP2 0 genome.wustl.edu 37 7 73790690 73790690 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 73790690 73790690 G T SNP CLIP2 ENST00000223398 human ensembl 74_37 +1 known missense c.1959 p.M653I 0.999 superfamily_t-SNARE pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain - no_errors CLIP2 HGNC ENSG00000106665 82 0 0 86 5 5.49451 CCDC146 0 genome.wustl.edu 37 7 76909865 76909865 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 76909865 76909865 A G SNP CCDC146 ENST00000285871 human ensembl 74_37 +1 known missense c.1814 p.Q605R 0.445 NULL NULL - no_errors CCDC146 HGNC ENSG00000135205 46 0 0 27 7 20.5882 MAGI2 0 genome.wustl.edu 37 7 77764449 77764449 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 77764449 77764449 G A SNP MAGI2 ENST00000354212 human ensembl 74_37 -1 known missense c.2920 p.R974W 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI2 HGNC ENSG00000187391 128 0 0 51 31 37.8049 SEMA3E 0 genome.wustl.edu 37 7 83036496 83036496 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 83036496 83036496 C T SNP SEMA3E ENST00000307792 human ensembl 74_37 -1 known missense c.730 p.V244I 0.988 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3E HGNC ENSG00000170381 50 0 0 33 21 38.8889 SEMA3E 0 genome.wustl.edu 37 7 83119550 83119550 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 83119550 83119550 A G SNP SEMA3E ENST00000307792 human ensembl 74_37 -1 known silent c.156 p.P52 0.009 superfamily_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3E HGNC ENSG00000170381 69 0 0 32 14 30.4348 ABCB1 0 genome.wustl.edu 37 7 87179212 87179212 + Silent SNP A A C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 87179212 87179212 A C SNP ABCB1 ENST00000265724 human ensembl 74_37 -1 known silent c.1509 p.A503 0.855 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB1 HGNC ENSG00000085563 247 0 0 143 8 5.29801 AKAP9 0 genome.wustl.edu 37 7 91645570 91645570 + Missense_Mutation SNP A A T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 91645570 91645570 A T SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known missense c.3776 p.Y1259F 0.101 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 13 0 0 8 3 27.2727 ANKIB1 0 genome.wustl.edu 37 7 92028136 92028136 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 92028136 92028136 C T SNP ANKIB1 ENST00000265742 human ensembl 74_37 +1 known missense c.3143 p.A1048V 0.602 NULL pfam_Znf_C6HC,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Znf_RING,smart_Znf_C6HC,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING - no_errors ANKIB1 HGNC ENSG00000001629 13 0 0 22 2 8.33333 COL1A2 0 genome.wustl.edu 37 7 94029571 94029571 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 94029571 94029571 G T SNP COL1A2 ENST00000297268 human ensembl 74_37 +1 known missense c.196 p.G66C 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 117 0 0 72 6 7.69231 COL1A2 0 genome.wustl.edu 37 7 94038108 94038108 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 94038108 94038108 A G SNP COL1A2 ENST00000297268 human ensembl 74_37 +1 known silent c.765 p.P255 0.559 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 66 0 0 24 8 25 TRRAP 0 genome.wustl.edu 37 7 98550975 98550975 + Missense_Mutation SNP C C G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 98550975 98550975 C G SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.5628 p.D1876E 0.986 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 80 0 0 53 32 37.6471 ATP5J2-PTCD1 0 genome.wustl.edu 37 7 99032621 99032621 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 99032621 99032621 T C SNP ATP5J2-PTCD1 ENST00000413834 human ensembl 74_37 -1 known missense c.392 p.D131G 0.016 NULL pfam_Pentatricopeptide_repeat,pfam_F1F0-ATPsyn_F_prd,tigrfam_Pentatricopeptide_repeat - no_errors ATP5J2-PTCD1 HGNC ENSG00000248919 110 0 0 63 25 28.4091 GPC2 0 genome.wustl.edu 37 7 99769744 99769744 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 99769744 99769744 T C SNP GPC2 ENST00000292377 human ensembl 74_37 -1 known missense c.989 p.Y330C 0.995 pfam_Glypican pfam_Glypican - no_errors GPC2 HGNC ENSG00000213420 94 0 0 48 44 47.8261 PVRIG 0 genome.wustl.edu 37 7 99818563 99818563 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 99818563 99818563 G A SNP PVRIG ENST00000317271 human ensembl 74_37 +1 known missense c.670 p.A224T 0.008 NULL NULL - no_errors PVRIG HGNC ENSG00000213413 142 0 0 119 8 6.29921 VPS13B 0 genome.wustl.edu 37 8 100443829 100443829 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 100443829 100443829 T C SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known silent c.3147 p.P1049 0.997 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 79 0 0 56 22 28.2051 VPS13B 0 genome.wustl.edu 37 8 100832310 100832310 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 100832310 100832310 A G SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.9029 p.Q3010R 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 105 0 0 98 24 19.6721 RGS22 0 genome.wustl.edu 37 8 100990178 100990178 + Missense_Mutation SNP T T G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 100990178 100990178 T G SNP RGS22 ENST00000360863 human ensembl 74_37 -1 known missense c.3486 p.K1162N 0.010 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam - no_errors RGS22 HGNC ENSG00000132554 49 0 0 46 13 22.0339 RGS22 0 genome.wustl.edu 37 8 101083648 101083648 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 101083648 101083648 A G SNP RGS22 ENST00000360863 human ensembl 74_37 -1 known silent c.543 p.T181 0.387 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam - no_errors RGS22 HGNC ENSG00000132554 98 0 0 93 15 13.8889 KLF10 0 genome.wustl.edu 37 8 103663669 103663669 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 103663669 103663669 C T SNP KLF10 ENST00000285407 human ensembl 74_37 -1 known silent c.891 p.Q297 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF10 HGNC ENSG00000155090 64 0 0 87 30 25.641 LRP12 0 genome.wustl.edu 37 8 105601124 105601124 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 105601124 105601124 A G SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known missense c.2 p.M1T 0.998 NULL pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 19 0 0 22 10 31.25 PKHD1L1 0 genome.wustl.edu 37 8 110477216 110477216 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 110477216 110477216 G T SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.8155 p.G2719W 1.000 NULL 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 141 0 0 175 35 16.6667 KCNV1 0 genome.wustl.edu 37 8 110984793 110984793 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 110984793 110984793 G T SNP KCNV1 ENST00000297404 human ensembl 74_37 -1 known missense c.685 p.L229M 0.885 prints_K_chnl 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 76 0 0 103 15 12.7119 CSMD3 0 genome.wustl.edu 37 8 113301692 113301692 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 113301692 113301692 A G SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.9050 p.V3017A 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 56 0 0 77 23 23 CSMD3 0 genome.wustl.edu 37 8 113569032 113569032 + Silent SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 113569032 113569032 C A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known silent c.4194 p.G1398 0.111 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 100 0 0 68 22 24.4444 CSMD3 0 genome.wustl.edu 37 8 114111065 114111065 + Missense_Mutation SNP A A C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 114111065 114111065 A C SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.837 p.I279M 0.994 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 CSMD3 HGNC ENSG00000164796 53 0 0 40 11 21.5686 TRPS1 0 genome.wustl.edu 37 8 116599312 116599312 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 116599312 116599312 G A SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known silent c.2616 p.G872 0.047 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 73 0 0 92 23 20 TRPS1 0 genome.wustl.edu 37 8 116599595 116599595 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 116599595 116599595 A G SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known missense c.2333 p.V778A 1.000 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 407 0 0 407 80 16.4271 USP17L2 0 genome.wustl.edu 37 8 11995922 11995922 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 11995922 11995922 T C SNP USP17L2 ENST00000333796 human ensembl 74_37 -1 known silent c.348 p.T116 0.992 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19/C67 - no_errors USP17L2 HGNC ENSG00000223443 50 0 0 40 29 42.029 TBC1D31 0 genome.wustl.edu 37 8 124089413 124089413 + Missense_Mutation SNP A A C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 124089413 124089413 A C SNP TBC1D31 ENST00000287380 human ensembl 74_37 +1 known missense c.140 p.N47T 1.000 smart_WD40_repeat pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom - no_errors TBC1D31 HGNC ENSG00000156787 143 0 0 116 28 19.4444 FBXO32 0 genome.wustl.edu 37 8 124526525 124526525 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 124526525 124526525 C T SNP FBXO32 ENST00000517956 human ensembl 74_37 -1 known missense c.421 p.A141T 1.000 NULL superfamily_F-box_dom - no_errors FBXO32 HGNC ENSG00000156804 40 0 0 36 7 16.2791 KIAA0196 0 genome.wustl.edu 37 8 126056870 126056870 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 126056870 126056870 G A SNP KIAA0196 ENST00000318410 human ensembl 74_37 -1 known missense c.2575 p.R859C 1.000 pfam_WASH_strumpellin pfam_WASH_strumpellin,superfamily_Ig_E-set - no_errors KIAA0196 HGNC ENSG00000164961 261 0 0 255 51 16.6667 TRIB1 0 genome.wustl.edu 37 8 126448430 126448430 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 126448430 126448430 T C SNP TRIB1 ENST00000311922 human ensembl 74_37 +1 known missense c.836 p.V279A 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors TRIB1 HGNC ENSG00000173334 72 0 0 132 21 13.7255 ADCY8 0 genome.wustl.edu 37 8 132051786 132051786 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 132051786 132051786 C A SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known missense c.794 p.G265V 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 41 0 0 61 19 23.75 PHF20L1 0 genome.wustl.edu 37 8 133829724 133829724 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 133829724 133829724 A G SNP PHF20L1 ENST00000395386 human ensembl 74_37 +1 putative missense c.1513 p.T505A 0.020 pfam_DUF3776 pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Tudor-like_plant - no_errors PHF20L1 HGNC ENSG00000129292 47 0 0 69 6 8 TG 0 genome.wustl.edu 37 8 134128894 134128894 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 134128894 134128894 C T SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.7796 p.A2599V 0.671 pfam_CarbesteraseB,pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 121 0 0 105 25 19.2308 NDRG1 0 genome.wustl.edu 37 8 134274294 134274294 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 134274294 134274294 C T SNP NDRG1 ENST00000323851 human ensembl 74_37 -1 known missense c.322 p.A108T 0.002 pfam_Ndr pfam_Ndr - no_errors NDRG1 HGNC ENSG00000104419 120 0 0 119 36 23.2258 FAM135B 0 genome.wustl.edu 37 8 139164232 139164232 + Missense_Mutation SNP A A C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 139164232 139164232 A C SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known missense c.2486 p.L829R 0.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 79 0 0 101 9 8.18182 BAI1 0 genome.wustl.edu 37 8 143623520 143623520 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 143623520 143623520 C A SNP BAI1 ENST00000323289 human ensembl 74_37 +1 known missense c.3925 p.L1309I 1.000 NULL pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC ENSG00000181790 93 0 0 102 21 17.0732 GML 0 genome.wustl.edu 37 8 143928051 143928051 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 143928051 143928051 T C SNP GML ENST00000220940 human ensembl 74_37 +1 known missense c.422 p.V141A 0.000 NULL smart_LY6_UPA_recep-like - no_errors GML HGNC ENSG00000104499 87 0 0 88 15 14.5631 ZFP41 0 genome.wustl.edu 37 8 144332268 144332268 + Missense_Mutation SNP A A C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 144332268 144332268 A C SNP ZFP41 ENST00000330701 human ensembl 74_37 +1 known missense c.255 p.K85N 0.969 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP41 HGNC ENSG00000181638 103 0 0 161 9 5.29412 EEF1D 0 genome.wustl.edu 37 8 144662696 144662696 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 144662696 144662696 T C SNP EEF1D ENST00000423316 human ensembl 74_37 -1 known missense c.1690 p.I564V 1.000 pfam_Transl_elong_fac_EF1B_bsu/dsu,superfamily_Transl_elong_fac_EF1B_bsu/dsu,smart_Transl_elong_fac_EF1B_bsu/dsu pfam_Transl_elong_fac_EF1B_bsu/dsu,pfam_EF-1_beta_acid_region_euk,superfamily_Transl_elong_fac_EF1B_bsu/dsu,smart_Transl_elong_fac_EF1B_bsu/dsu - no_errors EEF1D HGNC ENSG00000104529 107 0 0 141 23 14.0244 TSTA3 0 genome.wustl.edu 37 8 144698770 144698770 + Nonsense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 144698770 144698770 C T SNP TSTA3 ENST00000425753 human ensembl 74_37 -1 known nonsense c.113 p.W38* 1.000 pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct - no_errors TSTA3 HGNC ENSG00000104522 155 0 0 178 43 19.457 EPPK1 0 genome.wustl.edu 37 8 144945478 144945478 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 144945478 144945478 A G SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known silent c.1944 p.A648 0.012 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 23 0 0 31 3 8.82353 PLEC 0 genome.wustl.edu 37 8 144993691 144993691 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 144993691 144993691 A G SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.10709 p.V3570A 0.996 smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 86 0 0 122 36 22.7848 PLEC 0 genome.wustl.edu 37 8 144993786 144993786 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 144993786 144993786 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known silent c.10614 p.P3538 0.107 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 25 0 0 55 22 28.5714 SHARPIN 0 genome.wustl.edu 37 8 145153893 145153893 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 145153893 145153893 C T SNP SHARPIN ENST00000398712 human ensembl 74_37 -1 known missense c.1052 p.S351N 0.998 pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2 pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors SHARPIN HGNC ENSG00000179526 35 0 0 58 7 10.7692 DGAT1 0 genome.wustl.edu 37 8 145542543 145542543 + Missense_Mutation SNP A A T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 145542543 145542543 A T SNP DGAT1 ENST00000332324 human ensembl 74_37 -1 known missense c.370 p.F124I 1.000 superfamily_PEP-util_enz_mobile_dom pfam_MBOAT_fam,superfamily_PEP-util_enz_mobile_dom - no_errors DGAT1 HGNC ENSG00000185000 27 0 0 33 5 13.1579 FBXL6 0 genome.wustl.edu 37 8 145579803 145579803 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 145579803 145579803 A G SNP FBXL6 ENST00000331890 human ensembl 74_37 -1 known missense c.1297 p.F433L 0.551 NULL superfamily_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors FBXL6 HGNC ENSG00000182325 124 0 0 201 11 5.18868 ADCK5 0 genome.wustl.edu 37 8 145616151 145616151 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 145616151 145616151 G A SNP ADCK5 ENST00000308860 human ensembl 74_37 +1 known silent c.438 p.V146 1.000 NULL pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK5 HGNC ENSG00000173137 82 0 0 99 23 18.8525 CPSF1 0 genome.wustl.edu 37 8 145619255 145619255 + Splice_Site SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 145619255 145619255 T C SNP CPSF1 ENST00000349769 human ensembl 74_37 -1 known splice_site c.3860-2 e34-2 0.991 - - - no_errors CPSF1 HGNC ENSG00000071894 53 0 0 66 6 8.33333 KIFC2 0 genome.wustl.edu 37 8 145698024 145698024 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 145698024 145698024 G A SNP KIFC2 ENST00000301332 human ensembl 74_37 +1 known missense c.1796 p.R599H 0.993 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIFC2 HGNC ENSG00000167702 35 0 0 54 12 18.1818 TUSC3 0 genome.wustl.edu 37 8 15605939 15605939 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 15605939 15605939 A G SNP TUSC3 ENST00000503731 human ensembl 74_37 +1 known silent c.993 p.S331 0.946 NULL pfam_OligosaccharylTrfase_OST3/OST6,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TUSC3 HGNC ENSG00000104723 127 0 0 40 29 42.029 ARHGEF10 0 genome.wustl.edu 37 8 1905280 1905280 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 1905280 1905280 C T SNP ARHGEF10 ENST00000398564 human ensembl 74_37 +1 known missense c.3961 p.R1321C 0.178 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10 HGNC ENSG00000104728 81 0 0 45 23 33.8235 DMTN 0 genome.wustl.edu 37 8 21938932 21938932 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 21938932 21938932 G A SNP DMTN ENST00000265800 human ensembl 74_37 +1 known silent c.1176 p.L392 1.000 pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin_headpiece,pfscan_Villin_headpiece pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin_headpiece,pfscan_Villin_headpiece - no_errors DMTN HGNC ENSG00000158856 128 0 0 48 39 44.8276 PIWIL2 0 genome.wustl.edu 37 8 22210607 22210607 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 22210607 22210607 A G SNP PIWIL2 ENST00000356766 human ensembl 74_37 +1 known missense c.2539 p.M847V 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL2 HGNC ENSG00000197181 139 0 0 62 19 23.4568 RHOBTB2 0 genome.wustl.edu 37 8 22863501 22863501 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 22863501 22863501 A G SNP RHOBTB2 ENST00000251822 human ensembl 74_37 +1 known missense c.325 p.I109V 1.000 pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho 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 568 0 0 326 177 35.1889 SCARA5 0 genome.wustl.edu 37 8 27764668 27764668 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 27764668 27764668 T C SNP SCARA5 ENST00000354914 human ensembl 74_37 -1 known missense c.1093 p.K365E 1.000 pfam_Collagen pfam_SRCR,pfam_Collagen,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR - no_errors SCARA5 HGNC ENSG00000168079 196 0 0 104 33 24.0876 FZD3 0 genome.wustl.edu 37 8 28360587 28360587 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 28360587 28360587 T C SNP FZD3 ENST00000240093 human ensembl 74_37 +1 known silent c.57 p.H19 0.592 NULL pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD3 HGNC ENSG00000104290 193 0 0 73 25 25.5102 CSMD1 0 genome.wustl.edu 37 8 2857534 2857534 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 2857534 2857534 C T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.8152 p.V2718M 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 167 0 0 107 64 37.4269 TUBBP1 0 genome.wustl.edu 37 8 30210244 30210244 + RNA SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 30210244 30210244 C T SNP TUBBP1 ENST00000518096 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors TUBBP1 HGNC ENSG00000127589 72 0 0 57 33 36.6667 CSMD1 0 genome.wustl.edu 37 8 3046507 3046507 + Nonsense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 3046507 3046507 G A SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known nonsense c.5428 p.R1810* 0.729 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 41 0 0 29 4 12.1212 WRN 0 genome.wustl.edu 37 8 30948393 30948393 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 30948393 30948393 A G SNP WRN ENST00000298139 human ensembl 74_37 +1 known silent c.1764 p.V588 0.001 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors WRN HGNC ENSG00000165392 128 0 0 71 4 5.33333 BAG4 0 genome.wustl.edu 37 8 38034486 38034486 + Silent SNP T T G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 38034486 38034486 T G SNP BAG4 ENST00000287322 human ensembl 74_37 +1 known silent c.99 p.P33 0.559 NULL pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain - no_errors BAG4 HGNC ENSG00000156735 10 0 0 3 8 72.7273 C8orf4 0 genome.wustl.edu 37 8 40011203 40011203 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 40011203 40011203 T C SNP C8orf4 ENST00000315792 human ensembl 74_37 +1 known missense c.152 p.L51P 1.000 NULL NULL - no_errors C8orf4 HGNC ENSG00000176907 80 0 0 80 5 5.88235 ANK1 0 genome.wustl.edu 37 8 41551573 41551573 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 41551573 41551573 C A SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known missense c.3375 p.Q1125H 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 62 0 0 53 13 19.697 ANK1 0 genome.wustl.edu 37 8 41554007 41554007 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 41554007 41554007 G A SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known missense c.2834 p.A945V 0.999 pfam_ZU5,smart_ZU5,pfscan_ZU5 pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 83 0 0 36 31 46.2687 ANK1 0 genome.wustl.edu 37 8 41563684 41563684 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 41563684 41563684 C T SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known missense c.2074 p.V692I 0.984 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 103 0 0 39 35 47.2973 ANK1 0 genome.wustl.edu 37 8 41753956 41753956 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 41753956 41753956 C T SNP ANK1 ENST00000265709 human ensembl 74_37 -1 known missense c.43 p.E15K 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 38 0 0 26 8 23.5294 AP3M2 0 genome.wustl.edu 37 8 42019916 42019916 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 42019916 42019916 A G SNP AP3M2 ENST00000174653 human ensembl 74_37 +1 known missense c.563 p.D188G 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP3M2 HGNC ENSG00000070718 316 0 0 143 114 44.358 HGSNAT 0 genome.wustl.edu 37 8 43016647 43016647 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 43016647 43016647 T C SNP HGSNAT ENST00000458501 human ensembl 74_37 +1 known missense c.644 p.L215S 0.476 NULL pfam_DUF1624 - no_errors HGSNAT HGNC ENSG00000165102 40 0 0 19 6 24 SPIDR 0 genome.wustl.edu 37 8 48511574 48511574 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 48511574 48511574 C T SNP SPIDR ENST00000297423 human ensembl 74_37 +1 known missense c.1360 p.R454C 0.000 NULL NULL - no_errors SPIDR HGNC ENSG00000164808 30 0 0 16 10 38.4615 MCM4 0 genome.wustl.edu 37 8 48887520 48887520 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 48887520 48887520 C T SNP MCM4 ENST00000262105 human ensembl 74_37 +1 known missense c.2363 p.T788M 1.000 NULL 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 33 25 43.1034 SNAI2 0 genome.wustl.edu 37 8 49833799 49833799 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 49833799 49833799 T C SNP SNAI2 ENST00000020945 human ensembl 74_37 -1 known missense c.26 p.K9R 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI2 HGNC ENSG00000019549 158 0 0 117 22 15.8273 PXDNL 0 genome.wustl.edu 37 8 52384842 52384842 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 52384842 52384842 C T SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known silent c.717 p.E239 1.000 pfam_Ig_I-set,pfscan_Ig-like_dom pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 114 0 0 56 6 9.67742 OPRK1 0 genome.wustl.edu 37 8 54163341 54163341 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 54163341 54163341 C T SNP OPRK1 ENST00000265572 human ensembl 74_37 -1 known missense c.257 p.R86Q 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Opioid_rcpt,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Kappa_opi_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_Somatstn_rcpt,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors OPRK1 HGNC ENSG00000082556 40 0 0 21 14 40 SOX17 0 genome.wustl.edu 37 8 55372308 55372308 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 55372308 55372308 C T SNP SOX17 ENST00000297316 human ensembl 74_37 +1 known missense c.998 p.P333L 1.000 pfam_Sox_C_TAD pfam_Sox_C_TAD,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX17 HGNC ENSG00000164736 13 0 0 3 4 57.1429 RP1 0 genome.wustl.edu 37 8 55533545 55533545 + Missense_Mutation SNP A A C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 55533545 55533545 A C SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.19 p.T7P 0.927 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 175 0 0 65 26 28.5714 MOS 0 genome.wustl.edu 37 8 57026165 57026165 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 57026165 57026165 C T SNP MOS ENST00000311923 human ensembl 74_37 -1 known missense c.377 p.R126H 0.710 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 MOS HGNC ENSG00000172680 156 0 0 96 73 43.1953 DNAJC5B 0 genome.wustl.edu 37 8 66989015 66989015 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 66989015 66989015 C T SNP DNAJC5B ENST00000276570 human ensembl 74_37 +1 known silent c.240 p.Y80 0.985 pfam_DnaJ_domain,superfamily_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC5B HGNC ENSG00000147570 173 0 0 127 43 25.2941 TRIM55 0 genome.wustl.edu 37 8 67039509 67039509 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 67039509 67039509 C T SNP TRIM55 ENST00000315962 human ensembl 74_37 +1 known silent c.6 p.S2 0.913 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM55 HGNC ENSG00000147573 90 0 0 64 14 17.9487 C8orf46 0 genome.wustl.edu 37 8 67405903 67405903 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 67405903 67405903 G T SNP C8orf46 ENST00000305454 human ensembl 74_37 +1 known missense c.20 p.S7I 1.000 NULL NULL - no_errors C8orf46 HGNC ENSG00000169085 86 0 0 43 13 23.2143 PREX2 0 genome.wustl.edu 37 8 68930131 68930131 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 68930131 68930131 T C SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known silent c.192 p.N64 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain 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 26 0 0 26 3 10.3448 SLCO5A1 0 genome.wustl.edu 37 8 70744009 70744009 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 70744009 70744009 C T SNP SLCO5A1 ENST00000260126 human ensembl 74_37 -1 known silent c.900 p.L300 1.000 pfam_OA_transporter,pfam_MFS,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 SLCO5A1 HGNC ENSG00000137571 88 0 0 70 4 5.40541 EYA1 0 genome.wustl.edu 37 8 72229819 72229819 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 72229819 72229819 G T SNP EYA1 ENST00000340726 human ensembl 74_37 -1 known missense c.524 p.P175H 1.000 NULL pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA1 HGNC ENSG00000104313 164 0 0 56 44 44 MSC 0 genome.wustl.edu 37 8 72756328 72756328 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 72756328 72756328 G A SNP MSC ENST00000325509 human ensembl 74_37 -1 known missense c.86 p.P29L 0.841 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MSC HGNC ENSG00000178860 50 0 0 20 8 28.5714 TRPA1 0 genome.wustl.edu 37 8 72951992 72951992 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 72951992 72951992 G T SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known missense c.2102 p.P701H 1.000 NULL pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 104 0 0 38 15 28.3019 STAU2 0 genome.wustl.edu 37 8 74601001 74601001 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 74601001 74601001 T C SNP STAU2 ENST00000524300 human ensembl 74_37 -1 known silent c.162 p.E54 1.000 pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors STAU2 HGNC ENSG00000040341 188 0 0 115 12 9.44882 CRISPLD1 0 genome.wustl.edu 37 8 75898418 75898418 + Missense_Mutation SNP T T A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 75898418 75898418 T A SNP CRISPLD1 ENST00000262207 human ensembl 74_37 +1 known missense c.196 p.L66M 0.992 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 87 0 0 59 10 14.4928 HNF4G 0 genome.wustl.edu 37 8 76471265 76471265 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 76471265 76471265 A G SNP HNF4G ENST00000396423 human ensembl 74_37 +1 known silent c.1086 p.L362 0.998 superfamily_Nucl_hormone_rcpt_ligand-bd,prints_COUP_TF pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4 - no_errors HNF4G HGNC ENSG00000164749 70 0 0 124 43 25.7485 ZFHX4 0 genome.wustl.edu 37 8 77763747 77763747 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 77763747 77763747 G A SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known silent c.4590 p.T1530 0.575 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 29 0 0 67 6 8.21918 PAG1 0 genome.wustl.edu 37 8 81892718 81892718 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 81892718 81892718 T C SNP PAG1 ENST00000220597 human ensembl 74_37 -1 known silent c.888 p.S296 0.012 NULL NULL - no_errors PAG1 HGNC ENSG00000076641 87 0 0 59 6 9.23077 CNGB3 0 genome.wustl.edu 37 8 87679290 87679290 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 87679290 87679290 G A SNP CNGB3 ENST00000320005 human ensembl 74_37 -1 known missense c.715 p.R239C 1.000 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB3 HGNC ENSG00000170289 67 0 0 85 15 15 MMP16 0 genome.wustl.edu 37 8 89128810 89128810 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 89128810 89128810 C T SNP MMP16 ENST00000286614 human ensembl 74_37 -1 known missense c.1009 p.G337R 1.000 pirsf_Pept_M10A_Metazoans,superfamily_Hemopexin-like_dom pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP16 HGNC ENSG00000156103 113 0 0 116 31 21.0884 NBN 0 genome.wustl.edu 37 8 90983458 90983458 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 90983458 90983458 C T SNP NBN ENST00000265433 human ensembl 74_37 -1 known silent c.645 p.R215 0.000 pirsf_Nibrin_met pfam_DNA-repair_Nbs1_C,pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_BRCT_dom,smart_FHA_dom,pirsf_Nibrin_met,pfscan_FHA_dom - no_errors NBN HGNC ENSG00000104320 46 0 0 54 10 15.625 CALB1 0 genome.wustl.edu 37 8 91081413 91081413 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 91081413 91081413 T C SNP CALB1 ENST00000265431 human ensembl 74_37 -1 known missense c.284 p.Q95R 1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CALB1 HGNC ENSG00000104327 81 0 0 70 13 15.6627 NECAB1 0 genome.wustl.edu 37 8 91929826 91929826 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 91929826 91929826 A G SNP NECAB1 ENST00000417640 human ensembl 74_37 +1 known missense c.464 p.E155G 1.000 NULL pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NECAB1 HGNC ENSG00000123119 57 0 0 61 6 8.95522 CCDC180 0 genome.wustl.edu 37 9 100070292 100070292 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 100070292 100070292 G A SNP CCDC180 ENST00000375202 human ensembl 74_37 +1 known missense c.79 p.D27N 0.000 NULL NULL - no_errors CCDC180 HGNC ENSG00000197816 110 1 0.900901 63 16 20.2532 TMOD1 0 genome.wustl.edu 37 9 100328170 100328170 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 100328170 100328170 T C SNP TMOD1 ENST00000259365 human ensembl 74_37 +1 known missense c.659 p.L220P 1.000 NULL pfam_Tropomodulin - no_errors TMOD1 HGNC ENSG00000136842 124 0 0 113 26 18.705 XPA 0 genome.wustl.edu 37 9 100456024 100456024 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 100456024 100456024 C T SNP XPA ENST00000375128 human ensembl 74_37 -1 known missense c.190 p.A64T 1.000 NULL pfam_XPA_C,pfam_Znf_XPA_CS,superfamily_DNA-bd_dom_put,tigrfam_XPA - no_errors XPA HGNC ENSG00000136936 71 0 0 40 4 9.09091 BAAT 0 genome.wustl.edu 37 9 104130442 104130442 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 104130442 104130442 T C SNP BAAT ENST00000259407 human ensembl 74_37 -1 known missense c.629 p.Y210C 1.000 pfam_BAAT_C,pirsf_Acyl-CoA_thioEstase_long-chain pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain - no_errors BAAT HGNC ENSG00000136881 111 0 0 85 6 6.59341 ZNF189 0 genome.wustl.edu 37 9 104171448 104171448 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 104171448 104171448 T C SNP ZNF189 ENST00000339664 human ensembl 74_37 +1 known silent c.1398 p.S466 0.981 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 ZNF189 HGNC ENSG00000136870 142 0 0 80 8 9.09091 ALDOB 0 genome.wustl.edu 37 9 104187902 104187902 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 104187902 104187902 G A SNP ALDOB ENST00000374855 human ensembl 74_37 -1 known missense c.632 p.A211V 1.000 pfam_Aldolase_I pfam_Aldolase_I - no_errors ALDOB HGNC ENSG00000136872 88 0 0 69 4 5.47945 ACTL7A 0 genome.wustl.edu 37 9 111625023 111625023 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 111625023 111625023 G A SNP ACTL7A ENST00000333999 human ensembl 74_37 +1 known missense c.421 p.V141M 0.997 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL7A HGNC ENSG00000187003 53 0 0 46 22 32.3529 SVEP1 0 genome.wustl.edu 37 9 113192681 113192681 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 113192681 113192681 T C SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known silent c.5403 p.S1801 0.009 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 26 0 0 14 8 36.3636 MUSK 0 genome.wustl.edu 37 9 113562722 113562722 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 113562722 113562722 G T SNP MUSK ENST00000374448 human ensembl 74_37 +1 known missense c.2064 p.Q688H 0.002 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MUSK HGNC ENSG00000030304 188 0 0 131 11 7.74648 INIP 0 genome.wustl.edu 37 9 115478759 115478759 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 115478759 115478759 C T SNP INIP ENST00000374242 human ensembl 74_37 -1 known missense c.7 p.A3T 1.000 NULL NULL - no_errors INIP HGNC ENSG00000148153 154 0 0 72 4 5.26316 AMBP 0 genome.wustl.edu 37 9 116840388 116840388 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 116840388 116840388 G A SNP AMBP ENST00000265132 human ensembl 74_37 -1 known silent c.102 p.N34 0.998 superfamily_Calycin-like,prints_A1-microglobln,prints_PstgldnD_synth pfam_Prot_inh_Kunz-m,pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_A1-microglobln,prints_PstgldnD_synth,prints_Prot_inh_Kunz-m,prints_Lipocalin - no_errors AMBP HGNC ENSG00000106927 145 0 0 87 56 39.1608 ASTN2 0 genome.wustl.edu 37 9 119625888 119625888 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 119625888 119625888 G A SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.2014 p.R672W 0.998 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 77 0 0 60 38 38.7755 OR1N1 0 genome.wustl.edu 37 9 125288841 125288841 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 125288841 125288841 G A SNP OR1N1 ENST00000304880 human ensembl 74_37 -1 known silent c.732 p.C244 0.006 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1N1 HGNC ENSG00000171505 90 0 0 49 27 35.5263 RC3H2 0 genome.wustl.edu 37 9 125627905 125627905 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 125627905 125627905 T C SNP RC3H2 ENST00000357244 human ensembl 74_37 -1 known missense c.1357 p.T453A 1.000 NULL pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H2 HGNC ENSG00000056586 106 0 0 54 5 8.47458 RABGAP1 0 genome.wustl.edu 37 9 125782719 125782719 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 125782719 125782719 A G SNP RABGAP1 ENST00000373647 human ensembl 74_37 +1 known missense c.1775 p.Y592C 1.000 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_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 85 0 0 42 9 17.6471 WDR38 0 genome.wustl.edu 37 9 127617935 127617935 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 127617935 127617935 C A SNP WDR38 ENST00000373574 human ensembl 74_37 +1 known missense c.213 p.F71L 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR38 HGNC ENSG00000136918 90 0 0 47 11 18.9655 RPL35 0 genome.wustl.edu 37 9 127620344 127620344 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 127620344 127620344 G A SNP RPL35 ENST00000348462 human ensembl 74_37 -1 known silent c.225 p.G75 0.997 NULL pfam_Ribosomal_L29,superfamily_Ribosomal_L29,tigrfam_Ribosomal_L29 - no_errors RPL35 HGNC ENSG00000136942 34 0 0 17 12 41.3793 ZBTB34 0 genome.wustl.edu 37 9 129642108 129642108 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 129642108 129642108 G A SNP ZBTB34 ENST00000319119 human ensembl 74_37 +1 known missense c.430 p.G144S 0.959 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 ZBTB34 HGNC ENSG00000177125 86 0 0 64 26 28.8889 GARNL3 0 genome.wustl.edu 37 9 130152962 130152962 + Missense_Mutation SNP A A C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 130152962 130152962 A C SNP GARNL3 ENST00000373387 human ensembl 74_37 +1 known missense c.2786 p.K929T 0.997 NULL pfam_Citron,pfam_Rap_GAP_dom,smart_Citron,pfscan_Rap_GAP_dom - no_errors GARNL3 HGNC ENSG00000136895 225 0 0 131 45 25.5682 ZNF79 0 genome.wustl.edu 37 9 130197367 130197367 + Splice_Site SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 130197367 130197367 A G SNP ZNF79 ENST00000342483 human ensembl 74_37 +1 known splice_site c.106-2 e3-2 0.998 - - - no_errors ZNF79 HGNC ENSG00000196152 123 0 0 58 29 33.3333 CIZ1 0 genome.wustl.edu 37 9 130941408 130941408 + Nonsense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 130941408 130941408 G A SNP CIZ1 ENST00000538431 human ensembl 74_37 -1 known nonsense c.1078 p.Q360* 0.461 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin - no_errors CIZ1 HGNC ENSG00000148337 59 0 0 41 25 37.8788 ODF2 0 genome.wustl.edu 37 9 131223325 131223325 + Silent SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 131223325 131223325 G T SNP ODF2 ENST00000434106 human ensembl 74_37 +1 known silent c.228 p.R76 1.000 NULL NULL - no_errors ODF2 HGNC ENSG00000136811 49 0 0 46 20 30.303 MPDZ 0 genome.wustl.edu 37 9 13136156 13136156 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 13136156 13136156 C T SNP MPDZ ENST00000319217 human ensembl 74_37 -1 known missense c.4318 p.A1440T 1.000 NULL pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 36 0 0 19 3 13.6364 TBC1D13 0 genome.wustl.edu 37 9 131565555 131565555 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 131565555 131565555 G A SNP TBC1D13 ENST00000372648 human ensembl 74_37 +1 known silent c.570 p.V190 0.000 superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D13 HGNC ENSG00000107021 62 0 0 39 16 29.0909 FAM73B 0 genome.wustl.edu 37 9 131825503 131825503 + RNA SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 131825503 131825503 G A SNP FAM73B ENST00000494608 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FAM73B HGNC ENSG00000148343 56 0 0 34 9 20.9302 ASB6 0 genome.wustl.edu 37 9 132400101 132400101 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 132400101 132400101 C T SNP ASB6 ENST00000277458 human ensembl 74_37 -1 known missense c.1234 p.E412K 0.996 smart_SOCS_C,pfscan_SOCS_C pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB6 HGNC ENSG00000148331 114 0 0 62 28 31.1111 MPDZ 0 genome.wustl.edu 37 9 13247747 13247747 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 13247747 13247747 G A SNP MPDZ ENST00000319217 human ensembl 74_37 -1 known missense c.70 p.R24C 1.000 pfam_L27_2,pfscan_L27 pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 269 0 0 112 63 36 C9orf78 0 genome.wustl.edu 37 9 132590511 132590511 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 132590511 132590511 G A SNP C9orf78 ENST00000372447 human ensembl 74_37 -1 known missense c.799 p.R267C 1.000 NULL pfam_Hep_59 - no_errors C9orf78 HGNC ENSG00000136819 110 0 0 89 5 5.31915 LAMC3 0 genome.wustl.edu 37 9 133936465 133936465 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 133936465 133936465 A G SNP LAMC3 ENST00000361069 human ensembl 74_37 +1 known silent c.2202 p.E734 1.000 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC ENSG00000050555 58 0 0 41 3 6.81818 TSC1 0 genome.wustl.edu 37 9 135781295 135781295 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 135781295 135781295 A G SNP TSC1 ENST00000298552 human ensembl 74_37 -1 known missense c.1670 p.L557P 0.000 pfam_Hamartin pfam_Hamartin,superfamily_ARM-type_fold - no_errors TSC1 HGNC ENSG00000165699 90 0 0 57 4 6.55738 CEL 0 genome.wustl.edu 37 9 135947128 135947128 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 135947128 135947128 A G SNP CEL ENST00000372080 human ensembl 74_37 +1 known missense c.2248 p.M750V 0.986 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CEL HGNC ENSG00000170835 69 0 0 21 13 38.2353 ADAMTS13 0 genome.wustl.edu 37 9 136321249 136321249 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 136321249 136321249 G A SNP ADAMTS13 ENST00000371929 human ensembl 74_37 +1 known silent c.3627 p.G1209 0.000 superfamily_CUB_dom pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,superfamily_CUB_dom,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS13 HGNC ENSG00000160323 124 0 0 85 12 12.3711 RXRA 0 genome.wustl.edu 37 9 137300061 137300061 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 137300061 137300061 G A SNP RXRA ENST00000481739 human ensembl 74_37 +1 known missense c.346 p.V116I 1.000 pfam_Nuc_recep-AF1 pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Nuc_recep-AF1,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoic_acid_rcpt - no_errors RXRA HGNC ENSG00000186350 44 0 0 25 10 28.5714 OLFM1 0 genome.wustl.edu 37 9 137982144 137982144 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 137982144 137982144 G A SNP OLFM1 ENST00000371793 human ensembl 74_37 +1 known missense c.254 p.C85Y 1.000 pfam_Noelin-1 pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM1 HGNC ENSG00000130558 48 0 0 28 14 33.3333 KCNT1 0 genome.wustl.edu 37 9 138677161 138677161 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 138677161 138677161 C T SNP KCNT1 ENST00000298480 human ensembl 74_37 +1 known silent c.3162 p.H1054 0.345 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT1 HGNC ENSG00000107147 73 0 0 51 11 17.7419 C9orf69 0 genome.wustl.edu 37 9 139008452 139008452 + Nonsense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 139008452 139008452 G T SNP C9orf69 ENST00000561457 human ensembl 74_37 -1 known nonsense c.369 p.C123* 1.000 NULL NULL - no_errors C9orf69 HGNC ENSG00000238227 48 0 0 45 4 8.16327 CARD9 0 genome.wustl.edu 37 9 139265834 139265834 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 139265834 139265834 C T SNP CARD9 ENST00000371732 human ensembl 74_37 -1 known silent c.264 p.P88 0.056 pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors CARD9 HGNC ENSG00000187796 13 0 0 10 4 28.5714 NOTCH1 0 genome.wustl.edu 37 9 139405214 139405214 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 139405214 139405214 C T SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known silent c.2631 p.P877 0.734 pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 66 0 0 20 22 52.381 RABL6 0 genome.wustl.edu 37 9 139731890 139731890 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 139731890 139731890 T C SNP RABL6 ENST00000371663 human ensembl 74_37 +1 known missense c.905 p.V302A 0.047 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,prints_Small_GTPase - no_errors RABL6 HGNC ENSG00000196642 16 0 0 12 4 25 TRAF2 0 genome.wustl.edu 37 9 139815649 139815649 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 139815649 139815649 C T SNP TRAF2 ENST00000359662 human ensembl 74_37 +1 known missense c.1276 p.P426S 0.997 superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH 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 TRAF2 HGNC ENSG00000127191 89 0 0 53 4 7.01754 GRIN1 0 genome.wustl.edu 37 9 140055596 140055596 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 140055596 140055596 A G SNP GRIN1 ENST00000371561 human ensembl 74_37 +1 known missense c.1286 p.D429G 0.995 NULL pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_CaM-bd_C0_NMDA_rcpt_NR1,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN1 HGNC ENSG00000176884 54 0 0 32 6 15.7895 EHMT1 0 genome.wustl.edu 37 9 140672443 140672443 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 140672443 140672443 G A SNP EHMT1 ENST00000460843 human ensembl 74_37 +1 known missense c.2128 p.G710S 0.647 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENSG00000181090 135 0 0 84 22 20.7547 CACNA1B 0 genome.wustl.edu 37 9 140773593 140773593 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 140773593 140773593 G A SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known silent c.372 p.T124 0.754 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 51 0 0 42 6 12.5 CACNA1B 0 genome.wustl.edu 37 9 140946568 140946568 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 140946568 140946568 T C SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known silent c.3738 p.N1246 1.000 pfam_Ion_trans_dom 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 22 0 0 30 3 9.09091 CACNA1B 0 genome.wustl.edu 37 9 140948361 140948361 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 140948361 140948361 C A SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known missense c.3874 p.L1292I 1.000 pfam_Ion_trans_dom 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 238 0 0 190 14 6.86275 FREM1 0 genome.wustl.edu 37 9 14737553 14737553 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 14737553 14737553 G A SNP FREM1 ENST00000380881 human ensembl 74_37 -1 known silent c.6384 p.I2128 0.005 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 16 0 0 5 6 54.5455 CBWD1 0 genome.wustl.edu 37 9 164038 164038 + Splice_Site SNP C C G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 164038 164038 C G SNP CBWD1 ENST00000356521 human ensembl 74_37 -1 known splice_site c.431-1 e5-1 1.000 - - - no_errors CBWD1 HGNC ENSG00000172785 142 0 0 121 7 5.46875 SCARNA8 0 genome.wustl.edu 37 9 19063681 19063681 + RNA SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 19063681 19063681 C T SNP SCARNA8 ENST00000515924 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SCARNA8 HGNC ENSG00000251733 114 0 0 43 24 35.8209 MLLT3 0 genome.wustl.edu 37 9 20413989 20413989 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 20413989 20413989 C T SNP MLLT3 ENST00000380338 human ensembl 74_37 -1 known silent c.855 p.P285 0.991 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT3 HGNC ENSG00000171843 238 0 0 119 31 20.6667 PTPLAD2 0 genome.wustl.edu 37 9 21029383 21029383 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 21029383 21029383 G A SNP PTPLAD2 ENST00000495827 human ensembl 74_37 -1 known missense c.53 p.A18V 0.036 NULL pfam_Tyr_Pase-like_PTPLA - no_errors PTPLAD2 HGNC ENSG00000188921 93 0 0 26 17 39.5349 IFNW1 0 genome.wustl.edu 37 9 21141445 21141445 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 21141445 21141445 T C SNP IFNW1 ENST00000380229 human ensembl 74_37 -1 known missense c.125 p.H42R 0.003 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNW1 HGNC ENSG00000177047 236 0 0 112 73 39.4595 KLHL9 0 genome.wustl.edu 37 9 21333640 21333640 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 21333640 21333640 G A SNP KLHL9 ENST00000359039 human ensembl 74_37 -1 known missense c.1219 p.R407C 0.991 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL9 HGNC ENSG00000198642 84 0 0 50 35 41.1765 DNAJB5 0 genome.wustl.edu 37 9 34996747 34996747 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 34996747 34996747 G A SNP DNAJB5 ENST00000454002 human ensembl 74_37 +1 known missense c.913 p.A305T 1.000 superfamily_HSP40/DnaJ_pept-bd pfam_DnaJ_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB5 HGNC ENSG00000137094 39 0 0 43 9 17.3077 VCP 0 genome.wustl.edu 37 9 35062112 35062112 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 35062112 35062112 G A SNP VCP ENST00000358901 human ensembl 74_37 -1 known silent c.969 p.R323 0.998 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48 pfam_ATPase_AAA_core,pfam_CDC4_N-term_subdom,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Cdc48_dom2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_Vps4_C,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48 - no_errors VCP HGNC ENSG00000165280 126 0 0 51 45 46.875 TLN1 0 genome.wustl.edu 37 9 35706862 35706862 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 35706862 35706862 G A SNP TLN1 ENST00000314888 human ensembl 74_37 -1 known missense c.4991 p.A1664V 1.000 NULL pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_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 TLN1 HGNC ENSG00000137076 75 0 0 49 20 28.9855 GBA2 0 genome.wustl.edu 37 9 35737837 35737837 + Nonsense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 35737837 35737837 G A SNP GBA2 ENST00000545786 human ensembl 74_37 -1 known nonsense c.2431 p.Q811* 1.000 pfam_Glucosylceramidase,superfamily_6-hairpin_glycosidase-like,pirsf_Beta_glucosidase_GBA2-type pfam_Glucosylceramidase,pfam_GBA2_N,superfamily_6-hairpin_glycosidase-like,pirsf_Beta_glucosidase_GBA2-type - no_errors GBA2 HGNC ENSG00000070610 85 0 0 72 4 5.26316 OR13J1 0 genome.wustl.edu 37 9 35869823 35869823 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 35869823 35869823 C T SNP OR13J1 ENST00000377981 human ensembl 74_37 -1 known silent c.576 p.T192 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13J1 HGNC ENSG00000168828 76 0 0 56 31 35.6322 DOCK8 0 genome.wustl.edu 37 9 420992 420992 + Missense_Mutation SNP A A C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 420992 420992 A C SNP DOCK8 ENST00000453981 human ensembl 74_37 +1 known missense c.4067 p.K1356T 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 135 0 0 49 34 40.9639 CBWD6 0 genome.wustl.edu 37 9 69247573 69247573 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 69247573 69247573 C T SNP CBWD6 ENST00000377457 human ensembl 74_37 -1 known missense c.439 p.A147T 1.000 pfam_CobW/HypB/UreG_dom,superfamily_P-loop_NTPase pfam_CobW/HypB/UreG_dom,pfam_Cbl_biosynth_CobW-like_C,superfamily_P-loop_NTPase,superfamily_Cbl_biosynth_CobW-like_C,smart_Cbl_biosynth_CobW-like_C - no_errors CBWD6 HGNC ENSG00000204790 74 0 0 59 4 6.34921 PGM5 0 genome.wustl.edu 37 9 70993121 70993121 + Nonsense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 70993121 70993121 C T SNP PGM5 ENST00000396396 human ensembl 74_37 +1 known nonsense c.268 p.R90* 0.949 pfam_A-D-PHexomutase_a/b/a-I,superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM5 HGNC ENSG00000154330 83 0 0 88 6 6.38298 PGM5 0 genome.wustl.edu 37 9 70993145 70993145 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 70993145 70993145 A G SNP PGM5 ENST00000396396 human ensembl 74_37 +1 known missense c.292 p.I98V 1.000 pfam_A-D-PHexomutase_a/b/a-I,superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM5 HGNC ENSG00000154330 86 0 0 75 10 11.7647 KDM4C 0 genome.wustl.edu 37 9 7103815 7103815 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 7103815 7103815 A G SNP KDM4C ENST00000381309 human ensembl 74_37 +1 known missense c.2555 p.D852G 0.999 superfamily_Znf_FYVE_PHD,smart_Znf_PHD pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4C HGNC ENSG00000107077 89 0 0 57 5 8.06452 KANK1 0 genome.wustl.edu 37 9 738434 738434 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 738434 738434 C T SNP KANK1 ENST00000382297 human ensembl 74_37 +1 known silent c.3483 p.N1161 0.981 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK1 HGNC ENSG00000107104 106 0 0 59 13 18.0556 PSAT1 0 genome.wustl.edu 37 9 80919716 80919716 + Missense_Mutation SNP T T A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 80919716 80919716 T A SNP PSAT1 ENST00000376588 human ensembl 74_37 +1 known missense c.257 p.V86D 1.000 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,pirsf_Pser_aminoTfrase,tigrfam_Pser_aminoTfrase_subgr pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,pirsf_Pser_aminoTfrase,tigrfam_Pser_aminoTfrase_subgr - no_errors PSAT1 HGNC ENSG00000135069 150 0 0 104 6 5.45455 TLE4 0 genome.wustl.edu 37 9 82191133 82191133 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 82191133 82191133 C A SNP TLE4 ENST00000461758 human ensembl 74_37 +1 known missense c.293 p.T98N 0.000 NULL pfam_Groucho/TLE_N - no_errors TLE4 HGNC ENSG00000106829 36 0 0 21 16 43.2432 NTRK2 0 genome.wustl.edu 37 9 87342632 87342632 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 87342632 87342632 C T SNP NTRK2 ENST00000277120 human ensembl 74_37 +1 known missense c.917 p.T306I 1.000 pfam_Ig_I-set pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2 - no_errors NTRK2 HGNC ENSG00000148053 88 0 0 37 18 32.7273 S1PR3 0 genome.wustl.edu 37 9 91616825 91616825 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 91616825 91616825 G A SNP S1PR3 ENST00000358157 human ensembl 74_37 +1 known missense c.710 p.R237Q 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_EDG3_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn,prints_EDG1_rcpt,prints_Cnbnoid_rcpt - no_errors S1PR3 HGNC ENSG00000213694 90 0 0 62 18 22.5 DIRAS2 0 genome.wustl.edu 37 9 93376078 93376078 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 93376078 93376078 G A SNP DIRAS2 ENST00000375765 human ensembl 74_37 -1 known missense c.32 p.A11V 1.000 pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors DIRAS2 HGNC ENSG00000165023 237 0 0 115 62 35.0282 OGN 0 genome.wustl.edu 37 9 95152157 95152157 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 95152157 95152157 T C SNP OGN ENST00000262551 human ensembl 74_37 -1 known silent c.609 p.G203 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors OGN HGNC ENSG00000106809 64 0 0 20 11 35.4839 ECM2 0 genome.wustl.edu 37 9 95267870 95267870 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 95267870 95267870 C T SNP ECM2 ENST00000344604 human ensembl 74_37 -1 known missense c.1409 p.R470H 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_VWF_C,smart_VWF_C,smart_Leu-rich_rpt_typical-subtyp,pfscan_VWF_C - no_errors ECM2 HGNC ENSG00000106823 134 0 0 54 41 43.1579 HIATL1 0 genome.wustl.edu 37 9 97216241 97216241 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 97216241 97216241 C T SNP HIATL1 ENST00000375344 human ensembl 74_37 +1 known missense c.917 p.T306M 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG - no_errors HIATL1 HGNC ENSG00000148110 77 0 0 23 14 37.8378 SLC35D2 0 genome.wustl.edu 37 9 99084346 99084346 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 99084346 99084346 T C SNP SLC35D2 ENST00000253270 human ensembl 74_37 -1 known missense c.848 p.Y283C 1.000 pfam_Tpt_PEP_trans_dom pfam_Tpt_PEP_trans_dom,pfam_UAA - no_errors SLC35D2 HGNC ENSG00000130958 78 0 0 58 7 10.7692 BTK 0 genome.wustl.edu 37 X 100608101 100608101 + RNA SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 100608101 100608101 A G SNP BTK ENST00000470069 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors BTK HGNC ENSG00000010671 93 0 0 68 18 20.9302 GLA 0 genome.wustl.edu 37 X 100656740 100656740 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 100656740 100656740 C T SNP GLA ENST00000218516 human ensembl 74_37 -1 known missense c.427 p.A143T 1.000 pfam_Glyco_hydro_GHD,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_GHD,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27 - no_errors GLA HGNC ENSG00000102393 189 0 0 73 31 29.8077 WWC3 0 genome.wustl.edu 37 X 10107541 10107541 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 10107541 10107541 G T SNP WWC3 ENST00000380861 human ensembl 74_37 +1 known missense c.3173 p.G1058V 0.999 NULL superfamily_C2_dom - no_errors WWC3 HGNC ENSG00000047644 146 0 0 63 41 39.4231 BEX5 0 genome.wustl.edu 37 X 101409129 101409129 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 101409129 101409129 C T SNP BEX5 ENST00000333643 human ensembl 74_37 -1 known missense c.109 p.G37R 0.055 pfam_TF_A-like/BEX-like,pirsf_BEX pfam_TF_A-like/BEX-like,pirsf_BEX - no_errors BEX5 HGNC ENSG00000184515 152 0 0 63 41 39.4231 GPRASP1 0 genome.wustl.edu 37 X 101912464 101912464 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 101912464 101912464 C T SNP GPRASP1 ENST00000361600 human ensembl 74_37 +1 known missense c.3623 p.P1208L 0.858 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP1 HGNC ENSG00000198932 114 0 0 64 5 7.24638 IRS4 0 genome.wustl.edu 37 X 107977919 107977919 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 107977919 107977919 G A SNP IRS4 ENST00000372129 human ensembl 74_37 -1 known silent c.1656 p.T552 0.000 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 242 0 0 166 80 32.5203 ACSL4 0 genome.wustl.edu 37 X 108926679 108926679 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 108926679 108926679 G A SNP ACSL4 ENST00000340800 human ensembl 74_37 -1 known silent c.37 p.L13 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSL4 HGNC ENSG00000068366 127 1 0.78125 57 33 36.6667 HCCS 0 genome.wustl.edu 37 X 11133048 11133048 + Missense_Mutation SNP A A C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 11133048 11133048 A C SNP HCCS ENST00000321143 human ensembl 74_37 +1 known missense c.194 p.E65A 1.000 pfam_Cyt_C/C1_haem_lyase pfam_Cyt_C/C1_haem_lyase - no_errors HCCS HGNC ENSG00000004961 153 0 0 101 18 15.1261 AGTR2 0 genome.wustl.edu 37 X 115304470 115304470 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 115304470 115304470 G A SNP AGTR2 ENST00000371906 human ensembl 74_37 +1 known missense c.937 p.V313I 0.556 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_ATII_AT2_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt,prints_Brdyknn_rcpt,prints_Chemokine_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors AGTR2 HGNC ENSG00000180772 270 0 0 101 53 34.4156 C1GALT1C1 0 genome.wustl.edu 37 X 119760807 119760807 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 119760807 119760807 A G SNP C1GALT1C1 ENST00000304661 human ensembl 74_37 -1 known missense c.215 p.I72T 1.000 NULL NULL - no_errors C1GALT1C1 HGNC ENSG00000171155 116 1 0.854701 23 33 58.9286 THOC2 0 genome.wustl.edu 37 X 122767863 122767863 + Missense_Mutation SNP C C G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 122767863 122767863 C G SNP THOC2 ENST00000245838 human ensembl 74_37 -1 known missense c.2077 p.E693Q 1.000 NULL pfam_THO_THOC2_C,pfam_THO_THOC2_N - no_errors THOC2 HGNC ENSG00000125676 113 0 0 53 28 34.5679 DCAF12L2 0 genome.wustl.edu 37 X 125299809 125299809 + Silent SNP T T G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 125299809 125299809 T G SNP DCAF12L2 ENST00000360028 human ensembl 74_37 -1 known silent c.99 p.G33 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 62 0 0 32 19 37.2549 FRMPD4 0 genome.wustl.edu 37 X 12736157 12736157 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 12736157 12736157 G A SNP FRMPD4 ENST00000380682 human ensembl 74_37 +1 known missense c.3212 p.R1071Q 0.425 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_dom - no_errors FRMPD4 HGNC ENSG00000169933 98 0 0 122 33 21.2903 PRPS2 0 genome.wustl.edu 37 X 12840909 12840909 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 12840909 12840909 G A SNP PRPS2 ENST00000398491 human ensembl 74_37 +1 known silent c.960 p.P320 0.236 NULL pfam_PRibTrfase_dom,tigrfam_Rib-P_diPkinase - no_errors PRPS2 HGNC ENSG00000101911 62 0 0 56 6 9.67742 FAM45B 0 genome.wustl.edu 37 X 129629871 129629871 + RNA SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 129629871 129629871 G T SNP FAM45B ENST00000592932 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors FAM45B HGNC ENSG00000221930 124 0 0 90 26 22.4138 FAM127A 0 genome.wustl.edu 37 X 134166474 134166474 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 134166474 134166474 C T SNP FAM127A ENST00000257013 human ensembl 74_37 +1 novel missense c.61 p.R21C 0.001 NULL NULL - no_errors FAM127A HGNC ENSG00000134590 141 0 0 132 8 5.71429 SAGE1 0 genome.wustl.edu 37 X 134989589 134989589 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 134989589 134989589 C T SNP SAGE1 ENST00000324447 human ensembl 74_37 +1 known missense c.995 p.P332L 0.001 NULL NULL - no_errors SAGE1 HGNC ENSG00000181433 147 0 0 54 9 14.2857 SLC9A6 0 genome.wustl.edu 37 X 135126867 135126867 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 135126867 135126867 G A SNP SLC9A6 ENST00000370695 human ensembl 74_37 +1 known missense c.2090 p.R697K 0.998 NULL pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A6 HGNC ENSG00000198689 122 0 0 56 4 6.66667 GPR112 0 genome.wustl.edu 37 X 135494468 135494468 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 135494468 135494468 C T SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known missense c.8980 p.R2994W 0.997 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 75 0 0 28 4 12.5 F9 0 genome.wustl.edu 37 X 138643970 138643970 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 138643970 138643970 C T SNP F9 ENST00000218099 human ensembl 74_37 +1 known missense c.1126 p.L376F 0.149 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 136 0 0 75 5 6.25 SOX3 0 genome.wustl.edu 37 X 139586054 139586054 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 139586054 139586054 C T SNP SOX3 ENST00000370536 human ensembl 74_37 -1 known missense c.1172 p.R391H 1.000 NULL pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX3 HGNC ENSG00000134595 26 0 0 10 14 58.3333 SPANXD 0 genome.wustl.edu 37 X 140785702 140785702 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 140785702 140785702 C T SNP SPANXD ENST00000370515 human ensembl 74_37 -1 known missense c.214 p.A72T 0.008 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXD HGNC ENSG00000196406 336 0 0 109 54 33.1288 FMR1 0 genome.wustl.edu 37 X 147010206 147010206 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 147010206 147010206 T C SNP FMR1 ENST00000370475 human ensembl 74_37 +1 known silent c.300 p.D100 1.000 pfam_Agenet-like_dom pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FMR1 HGNC ENSG00000102081 97 0 0 58 6 9.375 AFF2 0 genome.wustl.edu 37 X 148048440 148048440 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 148048440 148048440 G A SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known missense c.3034 p.A1012T 0.641 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 129 0 0 98 66 40.2439 IDS 0 genome.wustl.edu 37 X 148564565 148564565 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 148564565 148564565 A G SNP IDS ENST00000340855 human ensembl 74_37 -1 known silent c.1365 p.G455 0.000 superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors IDS HGNC ENSG00000010404 137 0 0 74 24 24.4898 MTM1 0 genome.wustl.edu 37 X 149818248 149818248 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 149818248 149818248 A G SNP MTM1 ENST00000370396 human ensembl 74_37 +1 known silent c.927 p.L309 1.000 NULL pfam_Myotubularin-like_Pase_dom,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors MTM1 HGNC ENSG00000171100 128 0 0 63 37 37 GPR50 0 genome.wustl.edu 37 X 150348483 150348483 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 150348483 150348483 G A SNP GPR50 ENST00000218316 human ensembl 74_37 +1 known missense c.428 p.R143H 0.983 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mel_rcpt_1X,prints_GPCR_Rhodpsn,prints_Melatonin_rcpt,prints_NPY_rcpt - no_errors GPR50 HGNC ENSG00000102195 106 1 0.934579 104 7 6.30631 GABRA3 0 genome.wustl.edu 37 X 151366135 151366135 + Nonsense_Mutation SNP T T A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 151366135 151366135 T A SNP GABRA3 ENST00000370314 human ensembl 74_37 -1 known nonsense c.901 p.R301* 0.999 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa3_rcpt,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRA3 HGNC ENSG00000011677 78 0 0 54 7 11.4754 ZNF275 0 genome.wustl.edu 37 X 152612854 152612854 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 152612854 152612854 C T SNP ZNF275 ENST00000440091 human ensembl 74_37 +1 known silent c.801 p.F267 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 ZNF275 HGNC ENSG00000063587 145 0 0 82 58 41.4286 ABCD1 0 genome.wustl.edu 37 X 152994806 152994806 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 152994806 152994806 C T SNP ABCD1 ENST00000218104 human ensembl 74_37 +1 known silent c.1020 p.S340 0.971 pfam_ABC_Peroxi_TM,superfamily_ABC1_TM_dom,tigrfam_FA_transporter pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_FA_transporter - no_errors ABCD1 HGNC ENSG00000101986 137 0 0 64 32 33.3333 PLXNB3 0 genome.wustl.edu 37 X 153040502 153040502 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 153040502 153040502 C T SNP PLXNB3 ENST00000538966 human ensembl 74_37 +1 known missense c.4168 p.R1390C 0.998 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Plexin_repeat,pfam_Semap_dom,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 PLXNB3 HGNC ENSG00000198753 51 0 0 49 7 12.5 DNASE1L1 0 genome.wustl.edu 37 X 153631131 153631131 + Nonsense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 153631131 153631131 G A SNP DNASE1L1 ENST00000014935 human ensembl 74_37 -1 known nonsense c.826 p.Q276* 0.001 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,pirsf_DNase_I,prints_DNase_I - no_errors DNASE1L1 HGNC ENSG00000013563 58 0 0 35 17 32.6923 PLXNA3 0 genome.wustl.edu 37 X 153691740 153691740 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 153691740 153691740 G A SNP PLXNA3 ENST00000369682 human ensembl 74_37 +1 known missense c.1324 p.V442I 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom 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 PLXNA3 HGNC ENSG00000130827 258 0 0 176 13 6.87831 PLXNA3 0 genome.wustl.edu 37 X 153699010 153699010 + RNA SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 153699010 153699010 C T SNP PLXNA3 ENST00000493546 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PLXNA3 HGNC ENSG00000130827 62 0 0 41 31 43.0556 G6PD 0 genome.wustl.edu 37 X 153761218 153761218 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 153761218 153761218 G A SNP G6PD ENST00000369620 human ensembl 74_37 -1 known silent c.1128 p.R376 0.000 pfam_G6P_DH_C,pirsf_G6P_DH pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,pirsf_G6P_DH,prints_G6P_DH - no_errors G6PD HGNC ENSG00000160211 143 0 0 54 42 43.75 SNORA56 0 genome.wustl.edu 37 X 154003362 154003362 + RNA SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 154003362 154003362 G A SNP SNORA56 ENST00000383966 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNORA56 HGNC ENSG00000206693 130 0 0 54 42 43.75 ASMTL 0 genome.wustl.edu 37 X 1551188 1551188 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 1551188 1551188 C A SNP ASMTL ENST00000381317 human ensembl 74_37 -1 known missense c.483 p.W161C 1.000 pfam_Maf,tigrfam_Maf pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf - no_errors ASMTL HGNC ENSG00000169093 48 0 0 24 5 17.2414 CDKL5 0 genome.wustl.edu 37 X 18622406 18622406 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 18622406 18622406 A G SNP CDKL5 ENST00000379989 human ensembl 74_37 +1 known silent c.1362 p.K454 0.991 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 CDKL5 HGNC ENSG00000008086 203 0 0 216 18 7.69231 ZBED1 0 genome.wustl.edu 37 X 2408419 2408419 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 2408419 2408419 G A SNP ZBED1 ENST00000381218 human ensembl 74_37 -1 known silent c.342 p.A114 0.000 NULL pfam_HATC_dom_C,pfam_Znf_BED_prd,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED1 HGNC ENSG00000214717 74 0 0 56 24 30 ARX 0 genome.wustl.edu 37 X 25033714 25033714 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 25033714 25033714 C T SNP ARX ENST00000379044 human ensembl 74_37 -1 known silent c.141 p.A47 1.000 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom,prints_Antifreeze_1 - no_errors ARX HGNC ENSG00000004848 53 0 0 18 5 21.7391 PPP2R3B 0 genome.wustl.edu 37 X 301654 301654 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 301654 301654 G A SNP PPP2R3B ENST00000390665 human ensembl 74_37 -1 known silent c.1197 p.C399 1.000 pfscan_EF_hand_dom pfscan_EF_hand_dom - no_errors PPP2R3B HGNC ENSG00000167393 123 0 0 48 25 34.2466 MAGEB4 0 genome.wustl.edu 37 X 30260375 30260375 + Silent SNP T T A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 30260375 30260375 T A SNP MAGEB4 ENST00000378982 human ensembl 74_37 +1 known silent c.123 p.S41 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB4 HGNC ENSG00000120289 47 0 0 37 9 19.5652 NR0B1 0 genome.wustl.edu 37 X 30327190 30327190 + Silent SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 30327190 30327190 G T SNP NR0B1 ENST00000378970 human ensembl 74_37 -1 known silent c.291 p.P97 0.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt - no_errors NR0B1 HGNC ENSG00000169297 74 0 0 39 22 36.0656 TAB3 0 genome.wustl.edu 37 X 30873126 30873126 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 30873126 30873126 A G SNP TAB3 ENST00000288422 human ensembl 74_37 -1 known missense c.656 p.I219T 1.000 NULL pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB3 HGNC ENSG00000157625 38 0 0 35 2 5.40541 DMD 0 genome.wustl.edu 37 X 32867885 32867885 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 32867885 32867885 C T SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.146 p.R49H 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pirsf_Dystrophin/utrophin,pfscan_CH-domain pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 112 0 0 34 20 37.037 CXorf22 0 genome.wustl.edu 37 X 35993834 35993834 + Silent SNP A A C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 35993834 35993834 A C SNP CXorf22 ENST00000297866 human ensembl 74_37 +1 known silent c.2517 p.L839 0.116 NULL superfamily_PapD-like - no_errors CXorf22 HGNC ENSG00000165164 117 0 0 72 29 28.7129 BCOR 0 genome.wustl.edu 37 X 39933920 39933920 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 39933920 39933920 A G SNP BCOR ENST00000378444 human ensembl 74_37 -1 known missense c.679 p.Y227H 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 81 0 0 55 35 38.8889 CASK 0 genome.wustl.edu 37 X 41390261 41390261 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 41390261 41390261 T C SNP CASK ENST00000378163 human ensembl 74_37 -1 known missense c.2519 p.Q840R 1.000 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pfam_Prot_kinase_dom,pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Guanylate_kin-like - no_errors CASK HGNC ENSG00000147044 73 0 0 34 25 42.3729 NDUFB11 0 genome.wustl.edu 37 X 47003964 47003964 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 47003964 47003964 C T SNP NDUFB11 ENST00000276062 human ensembl 74_37 -1 known missense c.115 p.A39T 0.308 pfam_NADH_UbQ_OxRdtase_ESSS_su pfam_NADH_UbQ_OxRdtase_ESSS_su - no_errors NDUFB11 HGNC ENSG00000147123 37 0 0 42 18 30 RBM10 0 genome.wustl.edu 37 X 47030579 47030579 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 47030579 47030579 G T SNP RBM10 ENST00000377604 human ensembl 74_37 +1 known missense c.354 p.E118D 0.849 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 RBM10 HGNC ENSG00000182872 27 0 0 33 16 32.6531 CDK16 0 genome.wustl.edu 37 X 47088020 47088020 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 47088020 47088020 G T SNP CDK16 ENST00000276052 human ensembl 74_37 +1 known missense c.1652 p.R551L 0.663 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 CDK16 HGNC ENSG00000102225 93 0 0 68 4 5.55556 ZNF41 0 genome.wustl.edu 37 X 47307846 47307846 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 47307846 47307846 G A SNP ZNF41 ENST00000397050 human ensembl 74_37 -1 known silent c.1353 p.C451 0.099 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 ZNF41 HGNC ENSG00000147124 124 1 0.8 35 32 47.7612 SYN1 0 genome.wustl.edu 37 X 47434574 47434574 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 47434574 47434574 G A SNP SYN1 ENST00000295987 human ensembl 74_37 -1 known missense c.1258 p.R420W 0.999 NULL pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_dom,prints_Synapsin - no_errors SYN1 HGNC ENSG00000008056 14 0 0 12 4 25 RBM3 0 genome.wustl.edu 37 X 48434786 48434786 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 48434786 48434786 C T SNP RBM3 ENST00000376755 human ensembl 74_37 +1 known missense c.295 p.R99C 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM3 HGNC ENSG00000102317 63 0 0 22 7 24.1379 DGKK 0 genome.wustl.edu 37 X 50111965 50111965 + RNA SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 50111965 50111965 G T SNP DGKK ENST00000376025 human ensembl 74_37 -1 known rna NULL NULL 0.012 - - - no_errors DGKK HGNC ENSG00000204466 42 0 0 12 9 42.8571 GPR173 0 genome.wustl.edu 37 X 53106174 53106174 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 53106174 53106174 C T SNP GPR173 ENST00000332582 human ensembl 74_37 +1 known missense c.371 p.A124V 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR173 HGNC ENSG00000184194 90 0 0 84 5 5.61798 ITIH6 0 genome.wustl.edu 37 X 54780118 54780118 + Silent SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 54780118 54780118 C A SNP ITIH6 ENST00000218436 human ensembl 74_37 -1 known silent c.3318 p.G1106 0.908 NULL pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH6 HGNC ENSG00000102313 78 0 0 36 20 35.7143 TRO 0 genome.wustl.edu 37 X 54949009 54949009 + Splice_Site SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 54949009 54949009 A G SNP TRO ENST00000173898 human ensembl 74_37 +1 known splice_site c.46-2 e2-2 0.750 - - - no_errors TRO HGNC ENSG00000067445 41 0 0 15 7 31.8182 ALAS2 0 genome.wustl.edu 37 X 55035639 55035639 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 55035639 55035639 G A SNP ALAS2 ENST00000330807 human ensembl 74_37 -1 known missense c.1738 p.P580S 1.000 NULL pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase,tigrfam_4pyrrol_synth_NH2levulA_synth - no_errors ALAS2 HGNC ENSG00000158578 32 0 0 12 8 40 FOXR2 0 genome.wustl.edu 37 X 55650415 55650415 + Missense_Mutation SNP G G T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 55650415 55650415 G T SNP FOXR2 ENST00000339140 human ensembl 74_37 +1 known missense c.271 p.G91C 0.004 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXR2 HGNC ENSG00000189299 70 0 0 63 7 10 DLG3 0 genome.wustl.edu 37 X 69669273 69669273 + Missense_Mutation SNP C C A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 69669273 69669273 C A SNP DLG3 ENST00000194900 human ensembl 74_37 +1 known missense c.527 p.P176H 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG3 HGNC ENSG00000082458 102 0 0 40 26 39.3939 NLGN3 0 genome.wustl.edu 37 X 70386936 70386936 + Missense_Mutation SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 70386936 70386936 A G SNP NLGN3 ENST00000358741 human ensembl 74_37 +1 known missense c.989 p.Y330C 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN3 HGNC ENSG00000196338 39 0 0 32 14 30.4348 TAF1 0 genome.wustl.edu 37 X 70613283 70613283 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 70613283 70613283 C T SNP TAF1 ENST00000449580 human ensembl 74_37 +1 known missense c.3181 p.R1061C 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 105 0 0 56 4 6.66667 RPS4X 0 genome.wustl.edu 37 X 71495454 71495454 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 71495454 71495454 G A SNP RPS4X ENST00000316084 human ensembl 74_37 -1 known missense c.202 p.R68W 1.000 pfam_S4_RNA-bd,smart_S4_RNA-bd,pirsf_Ribosomal_S4e,pfscan_S4_RNA-bd pfam_Ribosomal_S4e_central_region,pfam_Ribosomal_S4e_N,pfam_S4_RNA-bd,pfam_KOW,smart_S4_RNA-bd,pirsf_Ribosomal_S4e,pfscan_S4_RNA-bd - no_errors RPS4X HGNC ENSG00000198034 95 0 0 28 16 36.3636 XIST 0 genome.wustl.edu 37 X 73050907 73050907 + RNA SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 73050907 73050907 G A SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 31 0 0 16 14 46.6667 KIAA2022 0 genome.wustl.edu 37 X 73963421 73963421 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 73963421 73963421 T C SNP KIAA2022 ENST00000055682 human ensembl 74_37 -1 known missense c.971 p.K324R 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 154 0 0 56 30 34.8837 UPRT 0 genome.wustl.edu 37 X 74513339 74513339 + Missense_Mutation SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 74513339 74513339 C T SNP UPRT ENST00000373383 human ensembl 74_37 +1 known missense c.419 p.A140V 1.000 NULL pfam_PRibTrfase_dom - no_errors UPRT HGNC ENSG00000094841 234 1 0.425532 78 36 31.5789 ATRX 0 genome.wustl.edu 37 X 76763847 76763847 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 76763847 76763847 G A SNP ATRX ENST00000373344 human ensembl 74_37 -1 known silent c.7461 p.S2487 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 159 0 0 124 14 10.1449 ATP7A 0 genome.wustl.edu 37 X 77258620 77258620 + Missense_Mutation SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 77258620 77258620 T C SNP ATP7A ENST00000341514 human ensembl 74_37 +1 known missense c.1594 p.Y532H 1.000 pfam_HeavyMe-assoc_HMA,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,tigrfam_HMA_Cu_ion-bd 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,prints_HG_scavenger,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd - no_errors ATP7A HGNC ENSG00000165240 237 0 0 114 12 9.52381 ZCCHC5 0 genome.wustl.edu 37 X 77913465 77913465 + Silent SNP T T C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 77913465 77913465 T C SNP ZCCHC5 ENST00000321110 human ensembl 74_37 -1 known silent c.453 p.Q151 0.000 NULL pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC5 HGNC ENSG00000179300 72 0 0 61 4 6.15385 POU3F4 0 genome.wustl.edu 37 X 82763572 82763572 + Silent SNP C C T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 82763572 82763572 C T SNP POU3F4 ENST00000373200 human ensembl 74_37 +1 known silent c.240 p.D80 1.000 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 POU3F4 HGNC ENSG00000196767 18 0 0 22 16 42.1053 POU3F4 0 genome.wustl.edu 37 X 82764266 82764266 + Missense_Mutation SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 82764266 82764266 G A SNP POU3F4 ENST00000373200 human ensembl 74_37 +1 known missense c.934 p.A312T 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,prints_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 POU3F4 HGNC ENSG00000196767 45 0 0 21 19 47.5 NAP1L3 0 genome.wustl.edu 37 X 92928199 92928199 + Silent SNP G G A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 92928199 92928199 G A SNP NAP1L3 ENST00000373079 human ensembl 74_37 -1 known silent c.105 p.S35 0.999 NULL pfam_NAP_family - no_errors NAP1L3 HGNC ENSG00000186310 90 0 0 24 20 45.4545 DIAPH2 0 genome.wustl.edu 37 X 96354737 96354737 + Silent SNP A A G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 96354737 96354737 A G SNP DIAPH2 ENST00000324765 human ensembl 74_37 +1 known silent c.2292 p.L764 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DIAPH2 HGNC ENSG00000147202 52 0 0 16 9 36 SRPX2 0 genome.wustl.edu 37 X 99920365 99920365 + Silent SNP A A C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 99920365 99920365 A C SNP SRPX2 ENST00000373004 human ensembl 74_37 +1 known silent c.658 p.R220 1.000 pfam_Hyalin,pfscan_Hyalin pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,superfamily_Thioredoxin-like_fold,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP - no_errors SRPX2 HGNC ENSG00000102359 19 0 0 14 7 33.3333 DPH5 0 genome.wustl.edu 37 1 101467107 101467107 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 101467107 101467107 A - DEL DPH5 ENST00000370109 human ensembl 74_37 -1 known frame_shift_del c.406 p.W136fs 1.000 pfam_4pyrrol_Mease,superfamily_4pyrrol_Mease,pirsf_Dphthn_synthase,tigrfam_Dphthn_synthase pfam_4pyrrol_Mease,superfamily_4pyrrol_Mease,pirsf_Dphthn_synthase,tigrfam_Dphthn_synthase - no_errors DPH5 HGNC ENSG00000117543 35 0 0 22 7 24.1379 WDR47 0 genome.wustl.edu 37 1 109556514 109556515 + Frame_Shift_Ins INS - - A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 109556514 109556515 - A INS WDR47 ENST00000400794 human ensembl 74_37 -1 known frame_shift_ins c.276_275 p.L92fs 1.000:1.000 smart_CTLH_C,pfscan_CTLH_C pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR47 HGNC ENSG00000085433 118 0 0 71 19 21.1111 AMIGO1 0 genome.wustl.edu 37 1 110050474 110050477 + Frame_Shift_Del DEL ACAG ACAG - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 ACAG ACAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 110050474 110050477 ACAG - DEL AMIGO1 ENST00000369862 human ensembl 74_37 -1 known frame_shift_del c.1061_1058 p.S353fs 1.000:1.000:0.856:0.999 pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_Ig_I-set,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_Ig-like_dom - no_errors AMIGO1 HGNC ENSG00000181754 113 0 0 90 30 25 TTLL10 0 genome.wustl.edu 37 1 1116223 1116223 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 1116223 1116223 G - DEL TTLL10 ENST00000379289 human ensembl 74_37 +1 known frame_shift_del c.738 p.V249fs 0.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL10 HGNC ENSG00000162571 13 0 0 13 4 23.5294 WNT2B 0 genome.wustl.edu 37 1 113057511 113057511 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 113057511 113057511 G - DEL WNT2B ENST00000369684 human ensembl 74_37 +1 known frame_shift_del c.198 p.A68fs 1.000 prints_Wnt2 pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2 - no_errors WNT2B HGNC ENSG00000134245 96 0 0 67 31 31.6327 ADAM30 0 genome.wustl.edu 37 1 120437823 120437823 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 120437823 120437823 A - DEL ADAM30 ENST00000369400 human ensembl 74_37 -1 known frame_shift_del c.1137 p.F379fs 0.000 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_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM30 HGNC ENSG00000134249 180 0 0 92 52 36.1111 NOTCH2 0 genome.wustl.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 120612003 120612004 GG - DEL NOTCH2 ENST00000256646 human ensembl 74_37 -1 known frame_shift_del c.18_17 p.P6fs 0.101:0.700 pirsf_Notch pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,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_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 40 0 0 33 8 19.5122 MTMR11 0 genome.wustl.edu 37 1 149900986 149900989 + RNA DEL AAAA AAAA - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 149900986 149900989 AAAA - DEL MTMR11 ENST00000466496 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.002:0.003:0.001 - - - no_errors MTMR11 HGNC ENSG00000014914 58 0 0 48 10 17.2414 MTMR11 0 genome.wustl.edu 37 1 149902648 149902648 + RNA DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 149902648 149902648 A - DEL MTMR11 ENST00000492824 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MTMR11 HGNC ENSG00000014914 26 0 0 22 12 35.2941 RPRD2 0 genome.wustl.edu 37 1 150445908 150445908 + RNA DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 150445908 150445908 T - DEL RPRD2 ENST00000492220 human ensembl 74_37 +1 known rna NULL NULL 0.276 - - - no_errors RPRD2 HGNC ENSG00000163125 14 0 0 21 4 16 ADAMTSL4 0 genome.wustl.edu 37 1 150531044 150531044 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 150531044 150531044 C - DEL ADAMTSL4 ENST00000369039 human ensembl 74_37 +1 known frame_shift_del c.2547 p.P851fs 0.033 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,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 ADAMTSL4 HGNC ENSG00000143382 146 0 0 92 60 39.4737 HORMAD1 0 genome.wustl.edu 37 1 150686528 150686529 + RNA INS - - A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 150686528 150686529 - A INS HORMAD1 ENST00000476530 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.036 - - - no_errors HORMAD1 HGNC ENSG00000143452 68 0 0 26 20 43.4783 LINGO4 0 genome.wustl.edu 37 1 151774033 151774033 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 151774033 151774033 G - DEL LINGO4 ENST00000368820 human ensembl 74_37 -1 known frame_shift_del c.1148 p.P383fs 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,pfam_Ig_I-set,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,pfscan_Ig-like_dom - no_errors LINGO4 HGNC ENSG00000213171 63 0 0 82 27 24.7706 TRIM46 0 genome.wustl.edu 37 1 155152179 155152179 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 155152179 155152179 C - DEL TRIM46 ENST00000334634 human ensembl 74_37 +1 known frame_shift_del c.1357 p.H455fs 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM46 HGNC ENSG00000163462 64 0 0 58 16 21.6216 ASH1L 0 genome.wustl.edu 37 1 155449752 155449753 + Frame_Shift_Ins INS - - T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 155449752 155449753 - T INS ASH1L ENST00000368346 human ensembl 74_37 -1 known frame_shift_ins c.2909_2908 p.I970fs 0.992:1.000 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 86 0 0 67 29 30.2083 MIB2 0 genome.wustl.edu 37 1 1564067 1564067 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 1564067 1564067 G - DEL MIB2 ENST00000505820 human ensembl 74_37 +1 known frame_shift_del c.2512 p.D840fs 0.999 smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Mib_Herc2,pfam_Ankyrin_rpt,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ,prints_Ankyrin_rpt - no_errors MIB2 HGNC ENSG00000197530 9 0 0 5 5 50 SLAMF9 0 genome.wustl.edu 37 1 159923935 159923936 + RNA INS - - C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 159923935 159923936 - C INS SLAMF9 ENST00000489098 human ensembl 74_37 -1 known rna NULL NULL 0.113:0.094 - - - no_errors SLAMF9 HGNC ENSG00000162723 55 0 0 54 7 11.4754 COPA 0 genome.wustl.edu 37 1 160261217 160261218 + Frame_Shift_Ins INS - - GA TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 160261217 160261218 - GA INS COPA ENST00000368069 human ensembl 74_37 -1 known frame_shift_ins c.3355_3354 p.N1118fs 1.000:1.000 pfam_Coatomer_asu_C,pirsf_Coatomer_asu pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors COPA HGNC ENSG00000122218 107 0 0 82 34 29.3103 EPHA2 0 genome.wustl.edu 37 1 16475133 16475133 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 16475133 16475133 C - DEL EPHA2 ENST00000358432 human ensembl 74_37 -1 known frame_shift_del c.563 p.C188fs 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_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 136 0 0 64 29 31.1828 UBR4 0 genome.wustl.edu 37 1 19511658 19511658 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 19511658 19511658 T - DEL UBR4 ENST00000375267 human ensembl 74_37 -1 known frame_shift_del c.1873 p.S625fs 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 336 0 0 264 14 5.03597 ENSG00000230260 0 genome.wustl.edu 37 1 197411573 197411573 + RNA DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 197411573 197411573 A - DEL ENSG00000230260 ENST00000422250 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-75C23.1 Clone_based_vega_gene ENSG00000230260 20 0 0 22 3 12 DDX59 0 genome.wustl.edu 37 1 200594042 200594042 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 200594042 200594042 T - DEL DDX59 ENST00000447706 human ensembl 74_37 -1 known frame_shift_del c.1730 p.N577fs 0.001 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Znf_HIT,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 DDX59 HGNC ENSG00000118197 79 0 0 19 21 52.5 CAMSAP2 0 genome.wustl.edu 37 1 200827020 200827020 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 200827020 200827020 A - DEL CAMSAP2 ENST00000236925 human ensembl 74_37 +1 known frame_shift_del c.4303 p.M1437fs 1.000 pfam_CKK_domain,superfamily_PRC_barrel-like pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC ENSG00000118200 88 0 0 67 10 12.987 IPO9 0 genome.wustl.edu 37 1 201817522 201817523 + Frame_Shift_Ins INS - - A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 201817522 201817523 - A INS IPO9 ENST00000361565 human ensembl 74_37 +1 known frame_shift_ins c.314_315 p.I107fs 1.000:0.999 pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO9 HGNC ENSG00000198700 95 0 0 53 41 43.617 PLEKHA6 0 genome.wustl.edu 37 1 204210879 204210880 + Frame_Shift_Ins INS - - G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 204210879 204210880 - G INS PLEKHA6 ENST00000272203 human ensembl 74_37 -1 known frame_shift_ins c.2236_2235 p.R745fs 0.024:0.003 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA6 HGNC ENSG00000143850 156 0 0 77 72 48.3221 PLEKHA6 0 genome.wustl.edu 37 1 204228411 204228411 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 204228411 204228411 C - DEL PLEKHA6 ENST00000272203 human ensembl 74_37 -1 known frame_shift_del c.982 p.V328fs 0.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA6 HGNC ENSG00000143850 64 0 0 75 27 26.4706 CR2 0 genome.wustl.edu 37 1 207642043 207642044 + Frame_Shift_Ins INS - - CC TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 207642043 207642044 - CC INS CR2 ENST00000367057 human ensembl 74_37 +1 known frame_shift_ins c.617_618 p.T209fs 0.000:0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR2 HGNC ENSG00000117322 176 0 0 106 57 34.9693 USP48 0 genome.wustl.edu 37 1 22033386 22033387 + Frame_Shift_Del DEL AA AA - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 22033386 22033387 AA - DEL USP48 ENST00000529637 human ensembl 74_37 -1 novel frame_shift_del c.1975_1974 p.S659fs 0.000:0.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC ENSG00000090686 39 0 0 16 17 51.5152 ENAH 0 genome.wustl.edu 37 1 225707117 225707118 + Frame_Shift_Del DEL TC TC - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 225707117 225707118 TC - DEL ENAH ENST00000366844 human ensembl 74_37 -1 known frame_shift_del c.585_584 p.R195fs 0.964:0.991 NULL pfam_WH1/EVH1,pfam_VASP_tetra,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors ENAH HGNC ENSG00000154380 35 0 0 64 11 14.6667 C1QA 0 genome.wustl.edu 37 1 22965826 22965826 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 22965826 22965826 A - DEL C1QA ENST00000374642 human ensembl 74_37 +1 known frame_shift_del c.664 p.K223fs 0.000 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 C1QA HGNC ENSG00000173372 79 0 0 49 16 24.6154 ARID4B 0 genome.wustl.edu 37 1 235357476 235357477 + Frame_Shift_Ins INS - - T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 235357476 235357477 - T INS ARID4B ENST00000264183 human ensembl 74_37 -1 known frame_shift_ins c.1977_1976 p.N659fs 1.000:0.999 superfamily_Chromodomain-like 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 79 0 0 50 14 21.875 ENSG00000233735 0 genome.wustl.edu 37 1 240341168 240341168 + RNA DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 240341168 240341168 T - DEL ENSG00000233735 ENST00000412311 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-567G24.3 Clone_based_vega_gene ENSG00000233735 20 0 0 11 4 26.6667 KMO 0 genome.wustl.edu 37 1 241753345 241753345 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 241753345 241753345 T - DEL KMO ENST00000366559 human ensembl 74_37 +1 known frame_shift_del c.1130 p.Q379fs 1.000 NULL pfam_mOase_FAD-bd,prints_Rng_hydrolase-like - no_errors KMO HGNC ENSG00000117009 179 0 0 65 32 32.9897 CEP170 0 genome.wustl.edu 37 1 243388559 243388560 + Frame_Shift_Ins INS - - A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 243388559 243388560 - A INS CEP170 ENST00000366542 human ensembl 74_37 -1 known frame_shift_ins c.24_23 p.L8fs 1.000:1.000 superfamily_SMAD_FHA_domain pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170 HGNC ENSG00000143702 22 0 0 15 8 34.7826 IQCC 0 genome.wustl.edu 37 1 32672862 32672863 + Frame_Shift_Del DEL CT CT - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 32672862 32672863 CT - DEL IQCC ENST00000537469 human ensembl 74_37 +1 known frame_shift_del c.820_821 p.L274fs 0.999:0.996 NULL pfscan_IQ_motif_EF-hand-BS - no_errors IQCC HGNC ENSG00000160051 206 0 0 143 8 5.29801 MACF1 0 genome.wustl.edu 37 1 39797891 39797892 + Frame_Shift_Ins INS - - A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 39797891 39797892 - A INS MACF1 ENST00000567887 human ensembl 74_37 +1 putative frame_shift_ins c.5742_5743 p.I1915fs 0.284:0.656 pfam_Plectin_repeat,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 133 0 0 70 35 33.3333 MACF1 0 genome.wustl.edu 37 1 39799059 39799060 + Frame_Shift_Ins INS - - G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 39799059 39799060 - G INS MACF1 ENST00000567887 human ensembl 74_37 +1 putative frame_shift_ins c.6910_6911 p.E2305fs 0.000:0.000 superfamily_RNaseH-like_dom 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 138 0 0 75 8 9.63855 ZMPSTE24 0 genome.wustl.edu 37 1 40756543 40756543 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 40756543 40756543 T - DEL ZMPSTE24 ENST00000372759 human ensembl 74_37 +1 known frame_shift_del c.1077 p.L362fs 1.000 pfam_Peptidase_M48 pfam_Peptidase_M48 - no_errors ZMPSTE24 HGNC ENSG00000084073 63 0 0 41 24 36.9231 UROD 0 genome.wustl.edu 37 1 45479967 45479967 + RNA DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 45479967 45479967 T - DEL UROD ENST00000472254 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors UROD HGNC ENSG00000126088 13 0 0 12 15 55.5556 INADL 0 genome.wustl.edu 37 1 62267407 62267407 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 62267407 62267407 A - DEL INADL ENST00000371158 human ensembl 74_37 +1 known frame_shift_del c.1515 p.N507fs 0.000 NULL pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors INADL HGNC ENSG00000132849 113 0 0 54 34 38.6364 RPL22 0 genome.wustl.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 6257785 6257785 T - DEL RPL22 ENST00000234875 human ensembl 74_37 -1 known frame_shift_del c.44 p.K15fs 1.000 pfam_Ribosomal_L22e pfam_Ribosomal_L22e - no_errors RPL22 HGNC ENSG00000116251 54 0 0 19 9 32.1429 PDE4B 0 genome.wustl.edu 37 1 66831383 66831384 + Frame_Shift_Ins INS - - T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 66831383 66831384 - T INS PDE4B ENST00000329654 human ensembl 74_37 +1 known frame_shift_ins c.1318_1319 p.A442fs 1.000:1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4B HGNC ENSG00000184588 58 0 0 28 10 26.3158 GNG12 0 genome.wustl.edu 37 1 68171151 68171151 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 68171151 68171151 T - DEL GNG12 ENST00000370982 human ensembl 74_37 -1 known frame_shift_del c.202 p.T68fs 1.000 smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma - no_errors GNG12 HGNC ENSG00000172380 160 0 0 74 21 22.1053 SRSF11 0 genome.wustl.edu 37 1 70697889 70697890 + Frame_Shift_Ins INS - - T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 70697889 70697890 - T INS SRSF11 ENST00000370949 human ensembl 74_37 +1 known frame_shift_ins c.96_97 p.L33fs 1.000:1.000 NULL NULL - no_errors SRSF11 HGNC ENSG00000116754 26 0 0 15 10 40 CAMTA1 0 genome.wustl.edu 37 1 7724522 7724522 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 7724522 7724522 G - DEL CAMTA1 ENST00000303635 human ensembl 74_37 +1 known frame_shift_del c.1915 p.G640fs 0.965 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 396 0 0 273 103 27.3936 RPL5 0 genome.wustl.edu 37 1 93306110 93306112 + In_Frame_Del DEL GGA GGA - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 93306110 93306112 GGA - DEL RPL5 ENST00000370321 human ensembl 74_37 +1 known in_frame_del c.708_710 p.E238in_frame_del 1.000:1.000:1.000 NULL pfam_Ribosomal_L18/L5,prints_Rbsml_L5_euk/L18_arc - no_errors RPL5 HGNC ENSG00000122406 137 0 0 74 28 27.451 CCDC18 0 genome.wustl.edu 37 1 93667516 93667516 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 93667516 93667516 A - DEL CCDC18 ENST00000557479 human ensembl 74_37 +1 known frame_shift_del c.1120 p.V377fs 1.000 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC18 HGNC ENSG00000122483 51 0 0 27 5 15.625 ABCD3 0 genome.wustl.edu 37 1 94982784 94982785 + RNA DEL TA TA - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 94982784 94982785 TA - DEL ABCD3 ENST00000464165 human ensembl 74_37 +1 known rna NULL NULL 0.274:0.002 - - - no_errors ABCD3 HGNC ENSG00000117528 12 0 0 12 6 33.3333 AGRN 0 genome.wustl.edu 37 1 979279 979279 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 1 979279 979279 C - DEL AGRN ENST00000379370 human ensembl 74_37 +1 known frame_shift_del c.1875 p.P627fs 0.185 pfam_Kazal_dom,smart_FacI_MAC,smart_Kazal_dom pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal_dom,pfam_EGF_laminin,pfam_SEA_dom,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Kazal_dom,smart_EG-like_dom,smart_EGF_laminin,smart_SEA_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA_dom - no_errors AGRN HGNC ENSG00000188157 47 0 0 24 9 27.2727 NOLC1 0 genome.wustl.edu 37 10 103919299 103919299 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 103919299 103919299 A - DEL NOLC1 ENST00000405356 human ensembl 74_37 +1 known frame_shift_del c.863 p.K290fs 0.998 NULL pfam_SRP40_C,pfscan_LisH_dimerisation - no_errors NOLC1 HGNC ENSG00000166197 57 0 0 42 15 26.3158 GBF1 0 genome.wustl.edu 37 10 104120909 104120909 + RNA DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 104120909 104120909 A - DEL GBF1 ENST00000476019 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors GBF1 HGNC ENSG00000107862 60 0 0 22 10 31.25 CYP17A1 0 genome.wustl.edu 37 10 104596941 104596942 + Frame_Shift_Ins INS - - T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 104596941 104596942 - T INS CYP17A1 ENST00000369887 human ensembl 74_37 -1 known frame_shift_ins c.178_177 p.Y59fs 1.000:0.934 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV 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 CYP17A1 HGNC ENSG00000148795 152 0 0 101 23 18.5484 IDI2 0 genome.wustl.edu 37 10 1065668 1065668 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 1065668 1065668 T - DEL IDI2 ENST00000277517 human ensembl 74_37 -1 known frame_shift_del c.473 p.N158fs 0.557 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 103 0 0 95 7 6.86275 TCF7L2 0 genome.wustl.edu 37 10 114849206 114849206 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 114849206 114849206 C - DEL TCF7L2 ENST00000355717 human ensembl 74_37 +1 known frame_shift_del c.531 p.S180fs 1.000 pfam_CTNNB1-bd_N 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 46 0 0 30 15 33.3333 KIAA1598 0 genome.wustl.edu 37 10 118713624 118713626 + In_Frame_Del DEL TCA TCA - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 TCA TCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 118713624 118713626 TCA - DEL KIAA1598 ENST00000392903 human ensembl 74_37 -1 known in_frame_del c.365_363 p.D121in_frame_del 0.980:0.979:0.004 NULL superfamily_Adenylate_cyclase-assoc_CAP_N - no_errors KIAA1598 HGNC ENSG00000187164 86 0 0 28 6 17.6471 KIAA1598 0 genome.wustl.edu 37 10 118719757 118719757 + RNA DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 118719757 118719757 A - DEL KIAA1598 ENST00000490615 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors KIAA1598 HGNC ENSG00000187164 34 0 0 25 3 10.7143 RAB11FIP2 0 genome.wustl.edu 37 10 119798647 119798647 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 119798647 119798647 T - DEL RAB11FIP2 ENST00000369199 human ensembl 74_37 -1 known frame_shift_del c.1101 p.D368fs 1.000 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RAB11FIP2 HGNC ENSG00000107560 159 0 0 75 42 35.8974 TIAL1 0 genome.wustl.edu 37 10 121335156 121335157 + RNA INS - - T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 121335156 121335157 - T INS TIAL1 ENST00000463089 human ensembl 74_37 -1 known rna NULL NULL 0.995:0.987 - - - no_errors TIAL1 HGNC ENSG00000151923 204 0 0 111 21 15.9091 INPP5F 0 genome.wustl.edu 37 10 121556338 121556339 + Frame_Shift_Ins INS - - C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 121556338 121556339 - C INS INPP5F ENST00000361976 human ensembl 74_37 +1 known frame_shift_ins c.781_782 p.Q264fs 1.000:1.000 pfam_Syja_N,pfscan_Syja_N pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N - no_errors INPP5F HGNC ENSG00000198825 73 0 0 57 5 8.06452 BCCIP 0 genome.wustl.edu 37 10 127520211 127520212 + RNA INS - - T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 127520211 127520212 - T INS BCCIP ENST00000463330 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors BCCIP HGNC ENSG00000107949 48 0 0 24 8 25 FANK1 0 genome.wustl.edu 37 10 127697969 127697969 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 127697969 127697969 A - DEL FANK1 ENST00000368693 human ensembl 74_37 +1 known frame_shift_del c.1000 p.K336fs 0.022 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3,prints_Ankyrin_rpt - no_errors FANK1 HGNC ENSG00000203780 64 0 0 46 7 13.2075 EBF3 0 genome.wustl.edu 37 10 131666125 131666125 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 131666125 131666125 C - DEL EBF3 ENST00000355311 human ensembl 74_37 -1 known frame_shift_del c.833 p.G278fs 1.000 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF3 HGNC ENSG00000108001 131 0 0 65 21 24.4186 GPR158 0 genome.wustl.edu 37 10 25861746 25861746 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 25861746 25861746 G - DEL GPR158 ENST00000376351 human ensembl 74_37 +1 known frame_shift_del c.1683 p.T564fs 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 40 0 0 23 15 39.4737 APBB1IP 0 genome.wustl.edu 37 10 26856274 26856274 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 26856274 26856274 C - DEL APBB1IP ENST00000376236 human ensembl 74_37 +1 known frame_shift_del c.1858 p.A622fs 0.000 NULL pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc - no_errors APBB1IP HGNC ENSG00000077420 10 0 0 2 4 66.6667 ERCC6 0 genome.wustl.edu 37 10 50669423 50669424 + Frame_Shift_Ins INS - - C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 50669423 50669424 - C INS ERCC6 ENST00000355832 human ensembl 74_37 -1 known frame_shift_ins c.3958_3957 p.I1319fs 0.000:0.000 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 63 0 0 31 21 40.3846 ENSG00000235939 0 genome.wustl.edu 37 10 50680934 50680934 + RNA DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 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 34 0 0 12 12 50 ZNF365 0 genome.wustl.edu 37 10 64159513 64159513 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 64159513 64159513 A - DEL ZNF365 ENST00000395254 human ensembl 74_37 +1 known frame_shift_del c.1189 p.K399fs 1.000 NULL NULL - no_errors ZNF365 HGNC ENSG00000138311 38 0 0 24 12 33.3333 HERC4 0 genome.wustl.edu 37 10 69750774 69750775 + Splice_Site INS - - A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 69750774 69750775 - A INS HERC4 ENST00000395198 human ensembl 74_37 -1 known splice_site_ins c.1332-3_1332-2 e11-2 0.991:0.227 - - - no_errors HERC4 HGNC ENSG00000148634 97 0 0 48 13 21.3115 HNRNPH3 0 genome.wustl.edu 37 10 70097823 70097824 + RNA INS - - G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 70097823 70097824 - G INS HNRNPH3 ENST00000469172 human ensembl 74_37 +1 known rna NULL NULL 0.959:1.000 - - - no_errors HNRNPH3 HGNC ENSG00000096746 34 0 0 29 5 14.7059 LARP4B 0 genome.wustl.edu 37 10 890939 890939 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 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 99 0 0 32 12 27.2727 PTEN 0 genome.wustl.edu 37 10 89717770 89717770 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 89717770 89717770 A - DEL PTEN ENST00000371953 human ensembl 74_37 +1 known frame_shift_del c.795 p.K267fs 0.994 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 79 0 0 17 15 46.875 STAMBPL1 0 genome.wustl.edu 37 10 90682146 90682146 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 90682146 90682146 A - DEL STAMBPL1 ENST00000371927 human ensembl 74_37 +1 known frame_shift_del c.1207 p.K405fs 1.000 NULL pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors STAMBPL1 HGNC ENSG00000138134 86 0 0 17 13 43.3333 FGFBP3 0 genome.wustl.edu 37 10 93668204 93668205 + Frame_Shift_Ins INS - - C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 93668204 93668205 - C INS FGFBP3 ENST00000311575 human ensembl 74_37 -1 known frame_shift_ins c.523_522 p.R174fs 0.002:0.000 pfam_FGF1-bd pfam_FGF1-bd - no_errors FGFBP3 HGNC ENSG00000174721 17 0 0 14 8 36.3636 IDE 0 genome.wustl.edu 37 10 94294479 94294479 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 94294479 94294479 A - DEL IDE ENST00000265986 human ensembl 74_37 -1 known frame_shift_del c.347 p.L116fs 1.000 pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors IDE HGNC ENSG00000119912 89 0 0 20 20 50 ZNF518A 0 genome.wustl.edu 37 10 97919840 97919840 + RNA DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 10 97919840 97919840 T - DEL ZNF518A ENST00000316045 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors ZNF518A HGNC ENSG00000177853 28 0 0 29 12 29.2683 CWF19L2 0 genome.wustl.edu 37 11 107299981 107299981 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 107299981 107299981 T - DEL CWF19L2 ENST00000282251 human ensembl 74_37 -1 known frame_shift_del c.977 p.N326fs 0.000 NULL pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like - no_errors CWF19L2 HGNC ENSG00000152404 38 0 0 22 14 38.8889 ATM 0 genome.wustl.edu 37 11 108114817 108114817 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 108114817 108114817 T - DEL ATM ENST00000278616 human ensembl 74_37 +1 known frame_shift_del c.634 p.S214fs 0.976 NULL pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,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 ATM HGNC ENSG00000149311 76 0 0 22 18 45 DDX10 0 genome.wustl.edu 37 11 108544239 108544239 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 108544239 108544239 A - DEL DDX10 ENST00000322536 human ensembl 74_37 +1 known frame_shift_del c.232 p.T80fs 0.988 pfscan_RNA_helicase_DEAD_Q_motif pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX10 HGNC ENSG00000178105 39 0 0 24 7 22.5806 CADM1 0 genome.wustl.edu 37 11 115047097 115047097 + RNA DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 115047097 115047097 A - DEL CADM1 ENST00000543375 human ensembl 74_37 -1 putative rna NULL NULL 0.997 - - - no_errors CADM1 HGNC ENSG00000182985 51 0 0 44 6 12 CEP164 0 genome.wustl.edu 37 11 117222648 117222648 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 117222648 117222648 A - DEL CEP164 ENST00000278935 human ensembl 74_37 +1 known frame_shift_del c.337 p.K116fs 1.000 NULL superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors CEP164 HGNC ENSG00000110274 28 0 0 10 18 64.2857 PHLDB1 0 genome.wustl.edu 37 11 118498911 118498911 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 118498911 118498911 C - DEL PHLDB1 ENST00000361417 human ensembl 74_37 +1 known frame_shift_del c.1372 p.L460fs 0.998 NULL pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB1 HGNC ENSG00000019144 249 0 0 141 54 27.6923 TECTA 0 genome.wustl.edu 37 11 121036077 121036077 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 121036077 121036077 C - DEL TECTA ENST00000264037 human ensembl 74_37 +1 known frame_shift_del c.5368 p.Y1792fs 0.994 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 15 0 0 9 4 30.7692 ROBO3 0 genome.wustl.edu 37 11 124739422 124739423 + Frame_Shift_Ins INS - - C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 124739422 124739423 - C INS ROBO3 ENST00000397801 human ensembl 74_37 +1 known frame_shift_ins c.564_565 p.R190fs 0.586:0.999 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO3 HGNC ENSG00000154134 13 0 0 4 3 42.8571 ADAMTS8 0 genome.wustl.edu 37 11 130278728 130278728 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 130278728 130278728 G - DEL ADAMTS8 ENST00000257359 human ensembl 74_37 -1 known frame_shift_del c.1858 p.R620fs 1.000 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS8,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS8 HGNC ENSG00000134917 194 1 0.512821 109 35 24.3056 KRTAP5-1 0 genome.wustl.edu 37 11 1606432 1606433 + Frame_Shift_Ins INS - - C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 1606432 1606433 - C INS KRTAP5-1 ENST00000382171 human ensembl 74_37 -1 known frame_shift_ins c.48_47 p.C17fs 1.000:1.000 NULL NULL - no_errors KRTAP5-1 HGNC ENSG00000205869 181 0 0 217 12 5.24017 ARL14EP 0 genome.wustl.edu 37 11 30352754 30352754 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 30352754 30352754 A - DEL ARL14EP ENST00000282032 human ensembl 74_37 +1 known frame_shift_del c.259 p.N89fs 1.000 NULL NULL - no_errors ARL14EP HGNC ENSG00000152219 127 0 0 79 15 15.9574 PAX6 0 genome.wustl.edu 37 11 31812317 31812317 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 31812317 31812317 G - DEL PAX6 ENST00000379107 human ensembl 74_37 -1 known frame_shift_del c.1166 p.P389fs 1.000 NULL pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,prints_Paired_dom,pfscan_Homeobox_dom,pfscan_Paired_dom - no_errors PAX6 HGNC ENSG00000007372 95 0 0 47 26 35.6164 NAT10 0 genome.wustl.edu 37 11 34160692 34160692 + RNA DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 34160692 34160692 A - DEL NAT10 ENST00000530017 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors NAT10 HGNC ENSG00000135372 59 0 0 31 25 44.6429 PAMR1 0 genome.wustl.edu 37 11 35513670 35513670 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 35513670 35513670 C - DEL PAMR1 ENST00000278360 human ensembl 74_37 -1 known frame_shift_del c.302 p.G101fs 0.999 smart_EG-like_dom pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_EG-like_dom,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1 - no_errors PAMR1 HGNC ENSG00000149090 314 1 0.31746 217 71 24.6528 RAG1 0 genome.wustl.edu 37 11 36597722 36597723 + Frame_Shift_Ins INS - - G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 36597722 36597723 - G INS RAG1 ENST00000299440 human ensembl 74_37 +1 known frame_shift_ins c.2868_2869 p.A957fs 0.463:1.000 NULL pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING - no_errors RAG1 HGNC ENSG00000166349 122 0 0 71 36 33.6449 OR52A1 0 genome.wustl.edu 37 11 5172786 5172786 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 5172786 5172786 A - DEL OR52A1 ENST00000328942 human ensembl 74_37 -1 known frame_shift_del c.814 p.S272fs 0.024 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 OR52A1 HGNC ENSG00000182070 91 0 0 69 34 33.0097 OR5M3 0 genome.wustl.edu 37 11 56237709 56237709 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 56237709 56237709 T - DEL OR5M3 ENST00000312240 human ensembl 74_37 -1 known frame_shift_del c.265 p.T89fs 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M3 HGNC ENSG00000174937 139 0 0 70 13 15.6627 OR5AK2 0 genome.wustl.edu 37 11 56757091 56757091 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 56757091 56757091 A - DEL OR5AK2 ENST00000326855 human ensembl 74_37 +1 known frame_shift_del c.703 p.K236fs 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AK2 HGNC ENSG00000181273 152 0 0 75 21 21.875 OR5B12 0 genome.wustl.edu 37 11 58207028 58207028 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 58207028 58207028 A - DEL OR5B12 ENST00000302572 human ensembl 74_37 -1 known frame_shift_del c.597 p.F199fs 0.000 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR5B12 HGNC ENSG00000172362 54 0 0 43 20 31.746 EML3 0 genome.wustl.edu 37 11 62378801 62378802 + Frame_Shift_Ins INS - - G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 62378801 62378802 - G INS EML3 ENST00000529309 human ensembl 74_37 -1 known frame_shift_ins c.210_209 p.G71fs 0.982:1.000 NULL pfam_HELP,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML3 HGNC ENSG00000149499 62 0 0 56 9 13.8462 SLC3A2 0 genome.wustl.edu 37 11 62649529 62649529 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 62649529 62649529 A - DEL SLC3A2 ENST00000377892 human ensembl 74_37 +1 known frame_shift_del c.985 p.K331fs 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 SLC3A2 HGNC ENSG00000168003 109 1 0.909091 45 19 29.6875 MARK2 0 genome.wustl.edu 37 11 63672263 63672263 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 63672263 63672263 C - DEL MARK2 ENST00000402010 human ensembl 74_37 +1 known frame_shift_del c.1682 p.Q563fs 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,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 156 0 0 79 36 31.3043 FERMT3 0 genome.wustl.edu 37 11 63987799 63987802 + Splice_Site DEL GTGA GTGA - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 GTGA GTGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 63987799 63987802 GTGA - DEL FERMT3 ENST00000279227 human ensembl 74_37 +1 known splice_site_del c.1323+1_1323+1 e10+1 1.000:1.000:0.993:0.955 - - - no_errors FERMT3 HGNC ENSG00000149781 192 0 0 150 64 29.9065 MEN1 0 genome.wustl.edu 37 11 64572092 64572093 + Frame_Shift_Ins INS - - G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 64572092 64572093 - G INS MEN1 ENST00000337652 human ensembl 74_37 -1 known frame_shift_ins c.1562_1561 p.R521fs 1.000:0.999 pfam_Menin pfam_Menin - no_errors MEN1 HGNC ENSG00000133895 23 0 0 38 7 15.5556 CDC42BPG 0 genome.wustl.edu 37 11 64591974 64591974 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 64591974 64591974 G - DEL CDC42BPG ENST00000342711 human ensembl 74_37 -1 known frame_shift_del c.4627 p.L1543fs 0.169 NULL pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPG HGNC ENSG00000171219 123 0 0 66 15 18.5185 MALAT1 0 genome.wustl.edu 37 11 65270091 65270091 + RNA DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 65270091 65270091 T - DEL MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.911 - - - no_errors MALAT1 HGNC ENSG00000251562 47 0 0 20 15 42.8571 YIF1A 0 genome.wustl.edu 37 11 66052322 66052323 + Frame_Shift_Ins INS - - G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 66052322 66052323 - G INS YIF1A ENST00000471387 human ensembl 74_37 -1 putative frame_shift_ins c.328_327 p.I109fs 0.000:0.002 NULL pfam_Hrf1 - no_errors YIF1A HGNC ENSG00000174851 67 0 0 75 15 16.6667 DCHS1 0 genome.wustl.edu 37 11 6645397 6645397 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 6645397 6645397 G - DEL DCHS1 ENST00000299441 human ensembl 74_37 -1 known frame_shift_del c.7510 p.L2504fs 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 33 0 0 24 12 33.3333 C11orf80 0 genome.wustl.edu 37 11 66605851 66605851 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 66605851 66605851 A - DEL C11orf80 ENST00000360962 human ensembl 74_37 +1 known frame_shift_del c.1682 p.K563fs 0.458 NULL NULL - no_errors C11orf80 HGNC ENSG00000173715 56 0 0 36 10 21.7391 TPCN2 0 genome.wustl.edu 37 11 68821598 68821598 + RNA DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 68821598 68821598 G - DEL TPCN2 ENST00000534832 human ensembl 74_37 +1 putative rna NULL NULL 0.011 - - - no_errors TPCN2 HGNC ENSG00000162341 33 0 0 26 4 13.3333 ANO1 0 genome.wustl.edu 37 11 69934085 69934085 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 69934085 69934085 G - DEL ANO1 ENST00000355303 human ensembl 74_37 +1 known frame_shift_del c.336 p.E114fs 0.000 NULL pfam_Anoctamin - no_errors ANO1 HGNC ENSG00000131620 21 0 0 17 5 22.7273 NLRP14 0 genome.wustl.edu 37 11 7092507 7092509 + In_Frame_Del DEL GAA GAA - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 7092507 7092509 GAA - DEL NLRP14 ENST00000299481 human ensembl 74_37 +1 known in_frame_del c.3250_3252 p.E1085in_frame_del 0.301:0.487:0.548 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 NLRP14 HGNC ENSG00000158077 85 0 0 27 7 20.5882 CLPB 0 genome.wustl.edu 37 11 72145303 72145303 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 72145303 72145303 C - DEL CLPB ENST00000294053 human ensembl 74_37 -1 known frame_shift_del c.216 p.R73fs 0.934 NULL pfam_ATPase_AAA-2,pfam_Ankyrin_rpt,pfam_Clp_ATPase_C,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,pfam_Zeta_toxin_domain,pfam_Sigma_54_int,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_AAA+_ATPase,prints_ClpA/B,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CLPB HGNC ENSG00000162129 68 0 0 42 11 20.7547 RELT 0 genome.wustl.edu 37 11 73106249 73106249 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 73106249 73106249 C - DEL RELT ENST00000064780 human ensembl 74_37 +1 known frame_shift_del c.1164 p.P390fs 0.843 NULL pfam_TNF_rcpt_RELT,prints_TNFR_19-like - no_errors RELT HGNC ENSG00000054967 106 0 0 50 37 42.5287 ENSG00000254420 0 genome.wustl.edu 37 11 78154811 78154812 + RNA DEL AA AA - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 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 37 0 0 14 19 57.5758 EED 0 genome.wustl.edu 37 11 85961425 85961426 + Frame_Shift_Ins INS - - G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 85961425 85961426 - G INS EED ENST00000263360 human ensembl 74_37 +1 known frame_shift_ins c.202_203 p.G72fs 1.000:1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EED HGNC ENSG00000074266 94 0 0 91 9 9 SLC36A4 0 genome.wustl.edu 37 11 92899120 92899120 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 92899120 92899120 A - DEL SLC36A4 ENST00000326402 human ensembl 74_37 -1 known frame_shift_del c.831 p.F277fs 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC36A4 HGNC ENSG00000180773 84 0 0 17 10 37.037 C11orf54 0 genome.wustl.edu 37 11 93486914 93486914 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 11 93486914 93486914 A - DEL C11orf54 ENST00000331239 human ensembl 74_37 +1 known frame_shift_del c.221 p.V77fs 0.016 pfam_DUF1907 pfam_DUF1907 - no_errors C11orf54 HGNC ENSG00000182919 36 0 0 17 6 26.087 CLEC12A 0 genome.wustl.edu 37 12 10131961 10131961 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 10131961 10131961 A - DEL CLEC12A ENST00000355690 human ensembl 74_37 +1 known frame_shift_del c.247 p.M85fs 0.003 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC12A HGNC ENSG00000172322 13 0 0 14 3 17.6471 KLRK1 0 genome.wustl.edu 37 12 10532376 10532376 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 10532376 10532376 A - DEL KLRK1 ENST00000240618 human ensembl 74_37 -1 known frame_shift_del c.164 p.F55fs 0.002 pfam_Herpes_UL45-like pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors KLRK1 HGNC ENSG00000213809 60 0 0 31 6 16.2162 TPCN1 0 genome.wustl.edu 37 12 113704017 113704017 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 113704017 113704017 C - DEL TPCN1 ENST00000541517 human ensembl 74_37 +1 known frame_shift_del c.486 p.K164fs 1.000 NULL pfam_Ion_trans_dom - no_errors TPCN1 HGNC ENSG00000186815 297 0 0 286 65 18.5185 HSPB8 0 genome.wustl.edu 37 12 119617377 119617377 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 119617377 119617377 C - DEL HSPB8 ENST00000281938 human ensembl 74_37 +1 known frame_shift_del c.260 p.P89fs 1.000 superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP - no_errors HSPB8 HGNC ENSG00000152137 38 0 0 31 52 62.6506 SNRNP35 0 genome.wustl.edu 37 12 123950763 123950764 + Frame_Shift_Del DEL GA GA - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 123950763 123950764 GA - DEL SNRNP35 ENST00000412157 human ensembl 74_37 +1 known frame_shift_del c.691_692 p.R234fs 1.000:0.993 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SNRNP35 HGNC ENSG00000184209 59 0 0 98 8 7.54717 POLE 0 genome.wustl.edu 37 12 133249248 133249248 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 133249248 133249248 C - DEL POLE ENST00000320574 human ensembl 74_37 -1 known frame_shift_del c.1651 p.V551fs 1.000 smart_DNA-dir_DNA_pol_B pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 164 0 0 90 38 29.6875 CHFR 0 genome.wustl.edu 37 12 133418085 133418085 + RNA DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 133418085 133418085 A - DEL CHFR ENST00000535527 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CHFR HGNC ENSG00000072609 63 0 0 50 11 18.0328 CACNA1C-AS1 0 genome.wustl.edu 37 12 2786184 2786184 + RNA DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 2786184 2786184 A - DEL CACNA1C-AS1 ENST00000501371 human ensembl 74_37 -1 known rna NULL NULL 0.778 - - - no_errors CACNA1C-AS1 HGNC ENSG00000246627 8 0 0 5 7 58.3333 FAR2 0 genome.wustl.edu 37 12 29450110 29450110 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 29450110 29450110 A - DEL FAR2 ENST00000182377 human ensembl 74_37 +1 known frame_shift_del c.522 p.I177fs 0.992 pfam_Male_sterile_NAD-bd,pfam_Epimerase_deHydtase pfam_Male_sterile_NAD-bd,pfam_FAR,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like - no_errors FAR2 HGNC ENSG00000064763 184 1 0.540541 97 55 36.1842 BICD1 0 genome.wustl.edu 37 12 32480462 32480463 + Frame_Shift_Ins INS - - G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 32480462 32480463 - G INS BICD1 ENST00000281474 human ensembl 74_37 +1 known frame_shift_ins c.1073_1074 p.A360fs 1.000:1.000 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc,superfamily_SPOC_like_C_dom - no_errors BICD1 HGNC ENSG00000151746 91 0 0 68 50 42.3729 SLC2A13 0 genome.wustl.edu 37 12 40153972 40153972 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 40153972 40153972 T - DEL SLC2A13 ENST00000280871 human ensembl 74_37 -1 known frame_shift_del c.1803 p.K601fs 0.913 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Plexin-like_fold,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A13 HGNC ENSG00000151229 47 0 0 54 7 11.4754 KDM5A 0 genome.wustl.edu 37 12 416953 416953 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 416953 416953 T - DEL KDM5A ENST00000399788 human ensembl 74_37 -1 known frame_shift_del c.3597 p.G1200fs 0.987 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC ENSG00000073614 157 0 0 85 47 35.6061 RAD51AP1 0 genome.wustl.edu 37 12 4653063 4653063 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 4653063 4653063 A - DEL RAD51AP1 ENST00000228843 human ensembl 74_37 +1 known frame_shift_del c.202 p.R70fs 0.997 NULL NULL - no_errors RAD51AP1 HGNC ENSG00000111247 30 0 0 40 15 27.2727 SLC38A1 0 genome.wustl.edu 37 12 46598325 46598325 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 46598325 46598325 A - DEL SLC38A1 ENST00000398637 human ensembl 74_37 -1 known frame_shift_del c.695 p.F232fs 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A1 HGNC ENSG00000111371 203 0 0 95 27 22.1311 DAZAP2 0 genome.wustl.edu 37 12 51632733 51632733 + RNA DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 51632733 51632733 G - DEL DAZAP2 ENST00000549497 human ensembl 74_37 +1 known rna NULL NULL 0.030 - - - no_errors DAZAP2 HGNC ENSG00000183283 46 0 0 67 18 21.1765 ANKRD33 0 genome.wustl.edu 37 12 52285148 52285149 + RNA INS - - C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 52285148 52285149 - C INS ANKRD33 ENST00000547119 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors ANKRD33 HGNC ENSG00000167612 9 0 0 12 17 58.6207 ITGA7 0 genome.wustl.edu 37 12 56092301 56092301 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 56092301 56092301 C - DEL ITGA7 ENST00000555728 human ensembl 74_37 -1 known frame_shift_del c.1190 p.G397fs 1.000 pfam_FG-GAP,smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA7 HGNC ENSG00000135424 119 0 0 142 32 18.3908 LRP1 0 genome.wustl.edu 37 12 57572242 57572242 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 57572242 57572242 G - DEL LRP1 ENST00000243077 human ensembl 74_37 +1 known frame_shift_del c.4462 p.E1490fs 1.000 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 136 1 0.729927 82 57 41.0072 DTX3 0 genome.wustl.edu 37 12 58001073 58001073 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 58001073 58001073 C - DEL DTX3 ENST00000551632 human ensembl 74_37 +1 known frame_shift_del c.436 p.L148fs 0.997 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DTX3 HGNC ENSG00000178498 11 0 0 16 6 27.2727 METTL1 0 genome.wustl.edu 37 12 58163382 58163383 + Frame_Shift_Ins INS - - G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 58163382 58163383 - G INS METTL1 ENST00000324871 human ensembl 74_37 -1 known frame_shift_ins c.539_538 p.L180fs 1.000:0.979 pfam_tRNA_(Gua-N-7)_MeTrfase,tigrfam_tRNA_(Gua-N-7)_MeTrfase pfam_tRNA_(Gua-N-7)_MeTrfase,tigrfam_tRNA_(Gua-N-7)_MeTrfase - no_errors METTL1 HGNC ENSG00000037897 221 0 0 159 27 14.5161 MON2 0 genome.wustl.edu 37 12 62954329 62954330 + Frame_Shift_Ins INS - - A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 62954329 62954330 - A INS MON2 ENST00000393630 human ensembl 74_37 +1 known frame_shift_ins c.3471_3472 p.N1158fs 1.000:1.000 superfamily_ARM-type_fold pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold - no_errors MON2 HGNC ENSG00000061987 82 0 0 79 10 11.236 NUP107 0 genome.wustl.edu 37 12 69126366 69126366 + RNA DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 69126366 69126366 A - DEL NUP107 ENST00000401003 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NUP107 HGNC ENSG00000111581 14 0 0 6 9 60 CD4 0 genome.wustl.edu 37 12 6924043 6924043 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 6924043 6924043 G - DEL CD4 ENST00000011653 human ensembl 74_37 +1 known frame_shift_del c.492 p.K167fs 0.000 pfam_Ig_C2-set,smart_Ig_sub,smart_Ig_sub2 pfam_CD4-extracel,pfam_Ig_C2-set,pfam_Tcell_CD4_Cterm,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,pfam_NK_rcpt_2B4_Ig_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Ag_CD4 - no_errors CD4 HGNC ENSG00000010610 104 0 0 83 34 29.0598 CNOT2 0 genome.wustl.edu 37 12 70747694 70747704 + Frame_Shift_Del DEL AAAAAAAAAAA AAAAAAAAAAA - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 AAAAAAAAAAA AAAAAAAAAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 70747694 70747704 AAAAAAAAAAA - DEL CNOT2 ENST00000229195 human ensembl 74_37 +1 known frame_shift_del c.1622_1623 p.*541fs 0.996:0.996 NULL pfam_NOT - no_errors CNOT2 HGNC ENSG00000111596 53 0 0 53 12 18.4615 APOBEC1 0 genome.wustl.edu 37 12 7805268 7805269 + Frame_Shift_Ins INS - - T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 7805268 7805269 - T INS APOBEC1 ENST00000229304 human ensembl 74_37 -1 known frame_shift_ins c.208_207 p.F69fs 0.001:0.007 pfam_APOBEC_N,superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC1 HGNC ENSG00000111701 36 0 0 28 8 22.2222 NAV3 0 genome.wustl.edu 37 12 78400806 78400806 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 78400806 78400806 A - DEL NAV3 ENST00000397909 human ensembl 74_37 +1 known frame_shift_del c.1488 p.K498fs 0.960 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 85 0 0 114 8 6.55738 ALX1 0 genome.wustl.edu 37 12 85695103 85695105 + In_Frame_Del DEL CAA CAA - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 CAA CAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 85695103 85695105 CAA - DEL ALX1 ENST00000316824 human ensembl 74_37 +1 known in_frame_del c.831_833 p.N279in_frame_del 1.000:1.000:1.000 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors ALX1 HGNC ENSG00000180318 114 0 0 100 16 13.7931 MGAT4C 0 genome.wustl.edu 37 12 86373330 86373330 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 86373330 86373330 T - DEL MGAT4C ENST00000393205 human ensembl 74_37 -1 known frame_shift_del c.1261 p.I421fs 1.000 NULL pfam_Glyco_transf_54,superfamily_LSM_dom - no_errors MGAT4C HGNC ENSG00000182050 45 0 0 17 17 50 CEP290 0 genome.wustl.edu 37 12 88453675 88453675 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 88453675 88453675 T - DEL CEP290 ENST00000309041 human ensembl 74_37 -1 known frame_shift_del c.6651 p.E2218fs 0.999 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 12 0 0 15 8 34.7826 A2ML1 0 genome.wustl.edu 37 12 8998751 8998751 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 8998751 8998751 T - DEL A2ML1 ENST00000299698 human ensembl 74_37 +1 known frame_shift_del c.1616 p.S542fs 0.031 pfam_A2M_N_2 pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors A2ML1 HGNC ENSG00000166535 136 0 0 60 45 42.8571 KLRG1 0 genome.wustl.edu 37 12 9142307 9142308 + Frame_Shift_Ins INS - - A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 9142307 9142308 - A INS KLRG1 ENST00000266551 human ensembl 74_37 +1 known frame_shift_ins c.76_77 p.S28fs 0.065:0.065 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRG1 HGNC ENSG00000139187 112 0 0 85 15 15 CCDC38 0 genome.wustl.edu 37 12 96292432 96292432 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 12 96292432 96292432 T - DEL CCDC38 ENST00000344280 human ensembl 74_37 -1 known frame_shift_del c.447 p.A150fs 0.125 NULL NULL - no_errors CCDC38 HGNC ENSG00000165972 83 0 0 31 37 54.4118 PCCA 0 genome.wustl.edu 37 13 100925452 100925452 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 100925452 100925452 T - DEL PCCA ENST00000376285 human ensembl 74_37 +1 known frame_shift_del c.917 p.L308fs 1.000 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_carboxylate-amine,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl - no_errors PCCA HGNC ENSG00000175198 52 0 0 24 18 42.8571 NALCN 0 genome.wustl.edu 37 13 101755523 101755524 + Frame_Shift_Ins INS - - A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 101755523 101755524 - A INS NALCN ENST00000251127 human ensembl 74_37 -1 known frame_shift_ins c.3057_3056 p.L1019fs 1.000:1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 161 0 0 80 49 37.9845 ITGBL1 0 genome.wustl.edu 37 13 102105191 102105191 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 102105191 102105191 C - DEL ITGBL1 ENST00000376180 human ensembl 74_37 +1 known frame_shift_del c.7 p.P4fs 0.064 NULL pfam_EGF_extracell,smart_EG-like_dom - no_errors ITGBL1 HGNC ENSG00000198542 139 0 0 83 15 15.3061 COL4A2 0 genome.wustl.edu 37 13 111099207 111099207 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 111099207 111099207 A - DEL COL4A2 ENST00000360467 human ensembl 74_37 +1 known frame_shift_del c.1074 p.G360fs 0.000 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A2 HGNC ENSG00000134871 179 0 0 134 11 7.58621 CDC16 0 genome.wustl.edu 37 13 115012591 115012591 + RNA DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 115012591 115012591 T - DEL CDC16 ENST00000494581 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors CDC16 HGNC ENSG00000130177 11 0 0 3 7 70 UPF3A 0 genome.wustl.edu 37 13 115057211 115057211 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 115057211 115057211 A - DEL UPF3A ENST00000375299 human ensembl 74_37 +1 known frame_shift_del c.790 p.E267fs 0.943 NULL pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3A HGNC ENSG00000169062 18 0 0 15 10 40 WASF3 0 genome.wustl.edu 37 13 27255387 27255387 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 27255387 27255387 C - DEL WASF3 ENST00000335327 human ensembl 74_37 +1 known frame_shift_del c.913 p.P307fs 0.975 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF3 HGNC ENSG00000132970 109 1 0.909091 91 27 22.8814 RFC3 0 genome.wustl.edu 37 13 34398063 34398063 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 34398063 34398063 A - DEL RFC3 ENST00000380071 human ensembl 74_37 +1 known frame_shift_del c.235 p.I82fs 1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase - no_errors RFC3 HGNC ENSG00000133119 28 0 0 17 6 26.087 NBEA 0 genome.wustl.edu 37 13 36125103 36125104 + Frame_Shift_Ins INS - - A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 36125103 36125104 - A INS NBEA ENST00000310336 human ensembl 74_37 +1 known frame_shift_ins c.6740_6741 p.V2250fs 0.996:0.214 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 61 0 0 33 21 38.8889 AKAP11 0 genome.wustl.edu 37 13 42874358 42874358 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 42874358 42874358 A - DEL AKAP11 ENST00000025301 human ensembl 74_37 +1 known frame_shift_del c.1476 p.S494fs 0.008 NULL NULL - no_errors AKAP11 HGNC ENSG00000023516 104 0 0 96 15 13.5135 ZC3H13 0 genome.wustl.edu 37 13 46543660 46543661 + Frame_Shift_Ins INS - - T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 46543660 46543661 - T INS ZC3H13 ENST00000242848 human ensembl 74_37 -1 known frame_shift_ins c.3019_3018 p.R1006fs 1.000:0.998 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 68 0 0 47 21 30.8824 RCBTB1 0 genome.wustl.edu 37 13 50140831 50140831 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 50140831 50140831 T - DEL RCBTB1 ENST00000258646 human ensembl 74_37 -1 known frame_shift_del c.200 p.K67fs 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_BTB_POZ,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RCBTB1 HGNC ENSG00000136144 115 0 0 43 24 35.8209 VPS36 0 genome.wustl.edu 37 13 53000038 53000038 + RNA DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 53000038 53000038 A - DEL VPS36 ENST00000492650 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors VPS36 HGNC ENSG00000136100 58 0 0 32 14 30.4348 TDRD3 0 genome.wustl.edu 37 13 61102847 61102848 + Frame_Shift_Ins INS - - A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 61102847 61102848 - A INS TDRD3 ENST00000535286 human ensembl 74_37 +1 known frame_shift_ins c.1488_1489 p.R498fs 1.000:1.000 NULL pfam_DUF1767,pfam_Tudor,pfam_Survival_motor_neuron,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_Tudor,pfscan_Tudor,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TDRD3 HGNC ENSG00000083544 120 0 0 94 9 8.73786 PIBF1 0 genome.wustl.edu 37 13 73357634 73357634 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 73357634 73357634 A - DEL PIBF1 ENST00000326291 human ensembl 74_37 +1 known frame_shift_del c.27 p.V12fs 0.060 NULL superfamily_t-SNARE - no_errors PIBF1 HGNC ENSG00000083535 107 0 0 76 14 15.5556 MYCBP2 0 genome.wustl.edu 37 13 77725047 77725048 + Frame_Shift_Ins INS - - T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 13 77725047 77725048 - T INS MYCBP2 ENST00000407578 human ensembl 74_37 -1 known frame_shift_ins c.6953_6952 p.M2318fs 1.000:1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 137 0 0 88 22 20 CDC42BPB 0 genome.wustl.edu 37 14 103447224 103447224 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 103447224 103447224 A - DEL CDC42BPB ENST00000361246 human ensembl 74_37 -1 known frame_shift_del c.1026 p.F342fs 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors CDC42BPB HGNC ENSG00000198752 126 0 0 62 41 39.8058 INF2 0 genome.wustl.edu 37 14 105174270 105174271 + Frame_Shift_Ins INS - - G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 105174270 105174271 - G INS INF2 ENST00000392634 human ensembl 74_37 +1 known frame_shift_ins c.1666_1667 p.V557fs 0.000:0.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom - no_errors INF2 HGNC ENSG00000203485 90 0 0 75 6 7.40741 HOMEZ 0 genome.wustl.edu 37 14 23745310 23745310 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 23745310 23745310 A - DEL HOMEZ ENST00000431326 human ensembl 74_37 -1 known frame_shift_del c.1133 p.L378fs 1.000 superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HOMEZ HGNC ENSG00000215271 63 0 0 43 17 28.3333 CPNE6 0 genome.wustl.edu 37 14 24545608 24545608 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 24545608 24545608 C - DEL CPNE6 ENST00000537691 human ensembl 74_37 +1 known frame_shift_del c.1263 p.N424fs 0.986 pfam_Copine,smart_VWF_A,pfscan_VWF_A pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE6 HGNC ENSG00000100884 253 1 0.393701 128 71 35.6784 GZMH 0 genome.wustl.edu 37 14 25075937 25075938 + Frame_Shift_Ins INS - - C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 25075937 25075938 - C INS GZMH ENST00000216338 human ensembl 74_37 -1 known frame_shift_ins c.613_612 p.P204fs 0.932:0.000 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 GZMH HGNC ENSG00000100450 155 1 0.641026 113 20 15.0376 NKX2-1-AS1 0 genome.wustl.edu 37 14 36988636 36988636 + RNA DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 36988636 36988636 T - DEL NKX2-1-AS1 ENST00000521292 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors NKX2-1-AS1 HGNC ENSG00000253563 13 0 0 11 5 31.25 MDGA2 0 genome.wustl.edu 37 14 47530771 47530771 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 47530771 47530771 T - DEL MDGA2 ENST00000439988 human ensembl 74_37 -1 known frame_shift_del c.1206 p.G403fs 1.000 NULL pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA2 Uniprot_gn ENSG00000272781 32 0 0 17 5 22.7273 DACT1 0 genome.wustl.edu 37 14 59112121 59112122 + Frame_Shift_Ins INS - - A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 59112121 59112122 - A INS DACT1 ENST00000335867 human ensembl 74_37 +1 known frame_shift_ins c.780_781 p.N261fs 0.994:1.000 NULL NULL - no_errors DACT1 HGNC ENSG00000165617 114 0 0 60 22 26.8293 SIX4 0 genome.wustl.edu 37 14 61180923 61180924 + Splice_Site INS - - A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 61180923 61180924 - A INS SIX4 ENST00000216513 human ensembl 74_37 -1 known splice_site_ins c.1550-3_1550-2 e3-2 0.998:0.834 - - - no_errors SIX4 HGNC ENSG00000100625 50 0 0 15 4 21.0526 SIX4 0 genome.wustl.edu 37 14 61190792 61190792 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 61190792 61190792 T - DEL SIX4 ENST00000216513 human ensembl 74_37 -1 known frame_shift_del c.1 p.M1fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX4 HGNC ENSG00000100625 159 0 0 78 30 27.7778 ZBTB1 0 genome.wustl.edu 37 14 64989787 64989787 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 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 174 0 0 114 34 22.973 ELMSAN1 0 genome.wustl.edu 37 14 74205773 74205773 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 74205773 74205773 G - DEL ELMSAN1 ENST00000286523 human ensembl 74_37 -1 known frame_shift_del c.939 p.N314fs 0.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC ENSG00000156030 41 0 0 12 11 47.8261 ELMSAN1 0 genome.wustl.edu 37 14 74205926 74205928 + In_Frame_Del DEL CTG CTG - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 74205926 74205928 CTG - DEL ELMSAN1 ENST00000286523 human ensembl 74_37 -1 known in_frame_del c.786_784 p.Q262in_frame_del 1.000:1.000:1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC ENSG00000156030 40 0 0 37 10 21.2766 ENTPD5 0 genome.wustl.edu 37 14 74438596 74438596 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 74438596 74438596 C - DEL ENTPD5 ENST00000334696 human ensembl 74_37 -1 known frame_shift_del c.1043 p.G348fs 1.000 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD5 HGNC ENSG00000187097 154 0 0 97 39 28.6765 YLPM1 0 genome.wustl.edu 37 14 75230471 75230471 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 75230471 75230471 G - DEL YLPM1 ENST00000325680 human ensembl 74_37 +1 known frame_shift_del c.279 p.G95fs 0.840 NULL superfamily_P-loop_NTPase - no_errors YLPM1 HGNC ENSG00000119596 56 0 0 67 18 21.1765 FOXN3 0 genome.wustl.edu 37 14 89878534 89878534 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 89878534 89878534 G - DEL FOXN3 ENST00000261302 human ensembl 74_37 -1 known frame_shift_del c.287 p.P96fs 0.998 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN3 HGNC ENSG00000053254 110 0 0 54 28 34.1463 CHGA 0 genome.wustl.edu 37 14 93398988 93398990 + In_Frame_Del DEL AGG AGG - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 93398988 93398990 AGG - DEL CHGA ENST00000216492 human ensembl 74_37 +1 known in_frame_del c.1082_1084 p.E365in_frame_del 0.000:0.000:0.009 pfam_Granin pfam_Granin,prints_Chromogranin_AB - no_errors CHGA HGNC ENSG00000100604 15 0 0 13 3 18.75 ATG2B 0 genome.wustl.edu 37 14 96783572 96783572 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 14 96783572 96783572 T - DEL ATG2B ENST00000359933 human ensembl 74_37 -1 known frame_shift_del c.3120 p.K1040fs 0.052 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC ENSG00000066739 70 0 0 30 24 44.4444 ADAMTS17 0 genome.wustl.edu 37 15 100801843 100801844 + Splice_Site INS - - A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 100801843 100801844 - A INS ADAMTS17 ENST00000268070 human ensembl 74_37 -1 known splice_site_ins c.874-3_874-2 e6-2 0.996:0.020 - - - no_errors ADAMTS17 HGNC ENSG00000140470 25 0 0 8 5 38.4615 NIPA2 0 genome.wustl.edu 37 15 23021239 23021239 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 23021239 23021239 T - DEL NIPA2 ENST00000337451 human ensembl 74_37 -1 known frame_shift_del c.98 p.K33fs 1.000 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA,pfam_DMT - no_errors NIPA2 HGNC ENSG00000140157 139 0 0 79 30 27.5229 PLA2G4E 0 genome.wustl.edu 37 15 42276068 42276069 + Frame_Shift_Ins INS - - AA TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 42276068 42276069 - AA INS PLA2G4E ENST00000413860 human ensembl 74_37 -1 known frame_shift_ins c.2404_2403 p.D801fs 0.997:0.570 superfamily_Acyl_Trfase/lysoPLipase,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4E HGNC ENSG00000188089 35 0 0 19 6 24 ZNF106 0 genome.wustl.edu 37 15 42742957 42742957 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 42742957 42742957 A - DEL ZNF106 ENST00000263805 human ensembl 74_37 -1 known frame_shift_del c.1444 p.S482fs 0.139 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ZNF106 HGNC ENSG00000103994 257 0 0 127 38 23.0303 EIF3J 0 genome.wustl.edu 37 15 44849810 44849811 + Frame_Shift_Ins INS - - T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 44849810 44849811 - T INS EIF3J ENST00000261868 human ensembl 74_37 +1 known frame_shift_ins c.533_534 p.L180fs 1.000:1.000 pfam_eIF3j pfam_eIF3j - no_errors EIF3J HGNC ENSG00000104131 70 0 0 41 18 30.5085 ENSG00000259241 0 genome.wustl.edu 37 15 51987960 51987963 + RNA DEL AAAA AAAA - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 51987960 51987963 AAAA - DEL ENSG00000259241 ENST00000559918 human ensembl 74_37 -1 known rna NULL NULL 0.006:0.012:0.011:0.004 - - - no_errors RP11-313P18.2 Clone_based_vega_gene ENSG00000259241 14 0 0 7 4 36.3636 PRTG 0 genome.wustl.edu 37 15 55912892 55912892 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 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 56 0 0 32 9 21.9512 CA12 0 genome.wustl.edu 37 15 63618547 63618547 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 63618547 63618547 T - DEL CA12 ENST00000178638 human ensembl 74_37 -1 known frame_shift_del c.1002 p.G335fs 1.000 NULL pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA12 HGNC ENSG00000074410 109 0 0 62 13 17.3333 ZNF609 0 genome.wustl.edu 37 15 64967247 64967247 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 64967247 64967247 A - DEL ZNF609 ENST00000326648 human ensembl 74_37 +1 known frame_shift_del c.2194 p.K734fs 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF609 HGNC ENSG00000180357 177 0 0 131 82 38.4977 ZNF609 0 genome.wustl.edu 37 15 64970558 64970559 + Frame_Shift_Ins INS - - C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 64970558 64970559 - C INS ZNF609 ENST00000326648 human ensembl 74_37 +1 known frame_shift_ins c.3646_3647 p.L1218fs 1.000:1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF609 HGNC ENSG00000180357 176 0 0 108 30 21.7391 DPP8 0 genome.wustl.edu 37 15 65771349 65771350 + Frame_Shift_Ins INS - - G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 65771349 65771350 - G INS DPP8 ENST00000341861 human ensembl 74_37 -1 known frame_shift_ins c.1373_1372 p.Q458fs 1.000:1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom - no_errors DPP8 HGNC ENSG00000074603 58 0 0 28 5 15.1515 UACA 0 genome.wustl.edu 37 15 70959656 70959657 + Frame_Shift_Ins INS - - T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 70959656 70959657 - T INS UACA ENST00000322954 human ensembl 74_37 -1 known frame_shift_ins c.3367_3366 p.S1122fs 0.161:0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt - no_errors UACA HGNC ENSG00000137831 153 0 0 92 8 8 SCAMP2 0 genome.wustl.edu 37 15 75146364 75146364 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 75146364 75146364 G - DEL SCAMP2 ENST00000268099 human ensembl 74_37 -1 known frame_shift_del c.223 p.Q75fs 1.000 NULL pfam_SCAMP - no_errors SCAMP2 HGNC ENSG00000140497 76 0 0 31 12 27.907 TMC3 0 genome.wustl.edu 37 15 81641861 81641861 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 81641861 81641861 A - DEL TMC3 ENST00000359440 human ensembl 74_37 -1 known frame_shift_del c.1131 p.F377fs 0.998 NULL pfam_TMC - no_errors TMC3 HGNC ENSG00000188869 24 0 0 14 8 36.3636 DNM1P51 0 genome.wustl.edu 37 15 84958125 84958126 + RNA INS - - C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 84958125 84958126 - C INS DNM1P51 ENST00000558801 human ensembl 74_37 -1 known rna NULL NULL 0.969:0.836 - - - no_errors DNM1P51 HGNC ENSG00000235370 17 0 0 18 7 28 TICRR 0 genome.wustl.edu 37 15 90167670 90167670 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 90167670 90167670 C - DEL TICRR ENST00000268138 human ensembl 74_37 +1 known frame_shift_del c.4129 p.P1378fs 0.005 NULL NULL - no_errors TICRR HGNC ENSG00000140534 224 0 0 223 16 6.69456 IDH2 0 genome.wustl.edu 37 15 90631917 90631918 + Frame_Shift_Ins INS - - C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 90631917 90631918 - C INS IDH2 ENST00000330062 human ensembl 74_37 -1 known frame_shift_ins c.436_435 p.T145fs 0.992:0.686 pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP - no_errors IDH2 HGNC ENSG00000182054 150 0 0 93 16 14.6789 SLCO3A1 0 genome.wustl.edu 37 15 92706441 92706441 + RNA DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 15 92706441 92706441 A - DEL SLCO3A1 ENST00000555549 human ensembl 74_37 +1 known rna NULL NULL 0.813 - - - no_errors SLCO3A1 HGNC ENSG00000176463 44 0 0 34 14 29.1667 ABCC1 0 genome.wustl.edu 37 16 16142119 16142120 + Frame_Shift_Ins INS - - C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 16142119 16142120 - C INS ABCC1 ENST00000399408 human ensembl 74_37 +1 known frame_shift_ins c.1339_1340 p.L449fs 1.000:1.000 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 ABCC1 HGNC ENSG00000103222 135 0 0 67 34 33.6634 SPSB3 0 genome.wustl.edu 37 16 1828187 1828187 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 1828187 1828187 C - DEL SPSB3 ENST00000301717 human ensembl 74_37 -1 known frame_shift_del c.440 p.G147fs 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C - no_errors SPSB3 HGNC ENSG00000162032 36 0 0 29 9 23.6842 KNOP1 0 genome.wustl.edu 37 16 19722724 19722724 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 19722724 19722724 T - DEL KNOP1 ENST00000219837 human ensembl 74_37 -1 known frame_shift_del c.957 p.G320fs 0.536 NULL NULL - no_errors KNOP1 HGNC ENSG00000103550 105 0 0 101 53 34.4156 DCUN1D3 0 genome.wustl.edu 37 16 20871266 20871267 + Frame_Shift_Ins INS - - C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 20871266 20871267 - C INS DCUN1D3 ENST00000324344 human ensembl 74_37 -1 known frame_shift_ins c.857_856 p.E286fs 1.000:1.000 NULL pfam_PONY_dom - no_errors DCUN1D3 HGNC ENSG00000188215 52 0 0 21 13 38.2353 ATXN2L 0 genome.wustl.edu 37 16 28847355 28847356 + Frame_Shift_Ins INS - - C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 28847355 28847356 - C INS ATXN2L ENST00000395547 human ensembl 74_37 +1 known frame_shift_ins c.2997_2998 p.Q1001fs 0.552:0.998 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2L HGNC ENSG00000168488 163 0 0 90 29 24.3697 MAZ 0 genome.wustl.edu 37 16 29818087 29818087 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 29818087 29818087 G - DEL MAZ ENST00000219782 human ensembl 74_37 +1 known frame_shift_del c.65 p.V24fs 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors MAZ HGNC ENSG00000103495 59 0 0 21 10 32.2581 INO80E 0 genome.wustl.edu 37 16 30007665 30007665 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 30007665 30007665 A - DEL INO80E ENST00000563197 human ensembl 74_37 +1 known frame_shift_del c.34 p.K14fs 1.000 NULL NULL - no_errors INO80E HGNC ENSG00000169592 12 0 0 12 3 20 ITGAL 0 genome.wustl.edu 37 16 30518138 30518138 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 30518138 30518138 C - DEL ITGAL ENST00000356798 human ensembl 74_37 +1 known frame_shift_del c.2469 p.P825fs 0.110 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAL HGNC ENSG00000005844 257 0 0 158 72 31.3043 SRCAP 0 genome.wustl.edu 37 16 30736371 30736371 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 30736371 30736371 C - DEL SRCAP ENST00000262518 human ensembl 74_37 +1 known frame_shift_del c.5626 p.P1878fs 1.000 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 175 0 0 91 42 31.5789 VPS35 0 genome.wustl.edu 37 16 46695735 46695735 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 46695735 46695735 T - DEL VPS35 ENST00000299138 human ensembl 74_37 -1 known frame_shift_del c.2106 p.A703fs 0.998 pfam_VPS35,superfamily_ARM-type_fold pfam_VPS35,superfamily_ARM-type_fold - no_errors VPS35 HGNC ENSG00000069329 167 0 0 72 33 31.4286 LOC101927102 0 genome.wustl.edu 37 16 47196592 47196592 + RNA DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 47196592 47196592 A - DEL LOC101927102 ENST00000564705 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors RP11-329J18.2 Clone_based_vega_gene ENSG00000260281 65 0 0 43 16 27.1186 CMTM1 0 genome.wustl.edu 37 16 66611099 66611100 + Frame_Shift_Ins INS - - G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 66611099 66611100 - G INS CMTM1 ENST00000332695 human ensembl 74_37 +1 known frame_shift_ins c.192_193 p.S66fs 0.368:0.986 NULL NULL - no_errors CMTM1 HGNC ENSG00000089505 45 0 0 23 7 23.3333 CTCF 0 genome.wustl.edu 37 16 67645338 67645339 + Frame_Shift_Ins INS - - AA TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 67645338 67645339 - AA INS CTCF ENST00000264010 human ensembl 74_37 +1 known frame_shift_ins c.603_604 p.T203fs 1.000:1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCF HGNC ENSG00000102974 75 0 0 48 25 34.2466 PRMT7 0 genome.wustl.edu 37 16 68380061 68380062 + Frame_Shift_Del DEL GA GA - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 68380061 68380062 GA - DEL PRMT7 ENST00000339507 human ensembl 74_37 +1 known frame_shift_del c.1069_1070 p.R358fs 0.000:0.000 pirsf_Arg_MeTrfase_PRMT7 pfam_Ribosomal-L11_MeTrfase_PrmA,pirsf_Arg_MeTrfase_PRMT7 - no_errors PRMT7 HGNC ENSG00000132600 96 0 0 51 20 28.169 ZFHX3 0 genome.wustl.edu 37 16 72822585 72822586 + Frame_Shift_Ins INS - - G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 72822585 72822586 - G INS ZFHX3 ENST00000268489 human ensembl 74_37 -1 known frame_shift_ins c.9590_9589 p.Q3197fs 0.817:0.870 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 157 0 0 109 77 41.3978 ZFHX3 0 genome.wustl.edu 37 16 72991758 72991758 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 72991758 72991758 C - DEL ZFHX3 ENST00000268489 human ensembl 74_37 -1 known frame_shift_del c.2287 p.E763fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 66 0 0 81 17 17.3469 GSE1 0 genome.wustl.edu 37 16 85682290 85682290 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 85682290 85682290 C - DEL GSE1 ENST00000253458 human ensembl 74_37 +1 known frame_shift_del c.359 p.V123fs 0.999 pfam_GSE-like pfam_GSE-like - no_errors GSE1 HGNC ENSG00000131149 138 0 0 96 77 44.5087 ZC3H18 0 genome.wustl.edu 37 16 88691140 88691141 + Frame_Shift_Ins INS - - C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 88691140 88691141 - C INS ZC3H18 ENST00000301011 human ensembl 74_37 +1 known frame_shift_ins c.2029_2030 p.R680fs 0.978:0.568 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 56 0 0 23 8 25.8065 ANKRD11 0 genome.wustl.edu 37 16 89349914 89349916 + In_Frame_Del DEL CTT CTT - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 89349914 89349916 CTT - DEL ANKRD11 ENST00000301030 human ensembl 74_37 -1 known in_frame_del c.3036_3034 p.K1012in_frame_del 0.640:0.951:0.998 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 188 0 0 98 54 35.5263 GRIN2A 0 genome.wustl.edu 37 16 9857380 9857380 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 16 9857380 9857380 T - DEL GRIN2A ENST00000330684 human ensembl 74_37 -1 known frame_shift_del c.4021 p.S1341fs 0.070 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 96 0 0 79 6 7.05882 ENSG00000252305 0 genome.wustl.edu 37 17 14080569 14080570 + RNA INS - - T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 14080569 14080570 - T INS ENSG00000252305 ENST00000516496 human ensembl 74_37 +1 novel rna NULL NULL 0.062:0.108 - - - no_errors SNORA74 RFAM ENSG00000252305 11 0 0 9 3 25 ENSG00000205325 0 genome.wustl.edu 37 17 14673543 14673543 + RNA DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 14673543 14673543 T - DEL ENSG00000205325 ENST00000379640 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors AC005863.1 Clone_based_vega_gene ENSG00000205325 70 0 0 25 12 32.4324 EPN2 0 genome.wustl.edu 37 17 19232950 19232950 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 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 98 0 0 45 26 36.6197 SPECC1 0 genome.wustl.edu 37 17 20108263 20108263 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 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 128 1 0.775194 58 102 63.75 KSR1 0 genome.wustl.edu 37 17 25910016 25910016 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 25910016 25910016 C - DEL KSR1 ENST00000319524 human ensembl 74_37 +1 known frame_shift_del c.865 p.P291fs 0.999 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 24 0 0 17 5 22.7273 MYO18A 0 genome.wustl.edu 37 17 27493332 27493332 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 27493332 27493332 G - DEL MYO18A ENST00000354329 human ensembl 74_37 -1 known frame_shift_del c.627 p.V210fs 0.000 superfamily_PDZ 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 112 0 0 84 39 31.7073 NF1 0 genome.wustl.edu 37 17 29677285 29677285 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 29677285 29677285 A - DEL NF1 ENST00000358273 human ensembl 74_37 +1 known frame_shift_del c.7406 p.N2470fs 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 99 0 0 48 18 27.2727 LHX1 0 genome.wustl.edu 37 17 35300395 35300395 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 35300395 35300395 C - DEL LHX1 ENST00000254457 human ensembl 74_37 +1 known frame_shift_del c.1188 p.E399fs 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 LHX1 HGNC ENSG00000132130 41 0 0 20 10 33.3333 ENSG00000272191 0 genome.wustl.edu 37 17 35300495 35300498 + RNA DEL AAAA AAAA - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 35300495 35300498 AAAA - DEL ENSG00000272191 ENST00000607336 human ensembl 74_37 -1 known rna NULL NULL 0.027:0.005:0.001:0.000 - - - no_errors RP11-445F12.2 Clone_based_vega_gene ENSG00000272191 9 0 0 4 4 50 ENSG00000233175 0 genome.wustl.edu 37 17 43317791 43317791 + RNA DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 43317791 43317791 C - DEL ENSG00000233175 ENST00000393507 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2020K17.3 Clone_based_vega_gene ENSG00000233175 33 0 0 15 9 37.5 MAPT 0 genome.wustl.edu 37 17 44039781 44039781 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 44039781 44039781 G - DEL MAPT ENST00000344290 human ensembl 74_37 +1 known frame_shift_del c.78 p.G28fs 0.429 NULL pfam_MAP_tubulin-bd_rpt,prints_Tau - no_errors MAPT HGNC ENSG00000186868 48 0 0 28 12 30 ALOX15 0 genome.wustl.edu 37 17 4544838 4544839 + Frame_Shift_Ins INS - - C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 4544838 4544839 - C INS ALOX15 ENST00000545513 human ensembl 74_37 -1 known frame_shift_ins c.175_174 p.K58fs 0.000:0.032 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 ALOX15 HGNC ENSG00000161905 48 0 0 41 5 10.8696 CAMTA2 0 genome.wustl.edu 37 17 4875738 4875738 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 4875738 4875738 G - DEL CAMTA2 ENST00000414043 human ensembl 74_37 -1 known frame_shift_del c.2666 p.P889fs 1.000 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 34 0 0 25 15 37.5 RABEP1 0 genome.wustl.edu 37 17 5281517 5281517 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 5281517 5281517 A - DEL RABEP1 ENST00000262477 human ensembl 74_37 +1 known frame_shift_del c.2261 p.G756fs 1.000 pfam_Rabaptin_Rab5-bd_dom pfam_Rabaptin_coiled-coil,pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin - no_errors RABEP1 HGNC ENSG00000029725 61 0 0 20 12 37.5 TMEM100 0 genome.wustl.edu 37 17 53798136 53798136 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 53798136 53798136 A - DEL TMEM100 ENST00000424486 human ensembl 74_37 -1 known frame_shift_del c.296 p.L99fs 0.994 NULL NULL - no_errors TMEM100 HGNC ENSG00000166292 121 0 0 73 29 28.4314 RNF43 0 genome.wustl.edu 37 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 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 190 0 0 140 38 21.3483 CA4 0 genome.wustl.edu 37 17 58234015 58234017 + In_Frame_Del DEL CTT CTT - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 58234015 58234017 CTT - DEL CA4 ENST00000300900 human ensembl 74_37 +1 known in_frame_del c.207_209 p.F72in_frame_del 0.551:0.712:0.713 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 CA4 HGNC ENSG00000167434 94 0 0 58 15 20.5479 BCAS3 0 genome.wustl.edu 37 17 59465992 59465992 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 59465992 59465992 A - DEL BCAS3 ENST00000589222 human ensembl 74_37 +1 known frame_shift_del c.2673 p.K894fs 1.000 NULL pfam_BCAS3,pfam_WD40_repeat - no_errors BCAS3 HGNC ENSG00000141376 9 0 0 5 3 37.5 HELZ 0 genome.wustl.edu 37 17 65105424 65105425 + Frame_Shift_Ins INS - - A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 65105424 65105425 - A INS HELZ ENST00000358691 human ensembl 74_37 -1 known frame_shift_ins c.4297_4296 p.N1432fs 0.394:0.383 NULL pfam_Znf_CCCH,superfamily_P-loop_NTPase,smart_Znf_CCCH - no_errors HELZ HGNC ENSG00000198265 85 0 0 37 19 33.9286 ABCA5 0 genome.wustl.edu 37 17 67256528 67256528 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 67256528 67256528 T - DEL ABCA5 ENST00000392677 human ensembl 74_37 -1 known frame_shift_del c.3593 p.N1198fs 0.021 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ENSG00000154265 33 0 0 12 6 33.3333 CHRNB1 0 genome.wustl.edu 37 17 7359206 7359208 + In_Frame_Del DEL CTC CTC - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 7359206 7359208 CTC - DEL CHRNB1 ENST00000306071 human ensembl 74_37 +1 known in_frame_del c.1311_1313 p.S439in_frame_del 0.992:0.991:0.990 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB1 HGNC ENSG00000170175 78 0 0 39 21 35 UNK 0 genome.wustl.edu 37 17 73780920 73780922 + In_Frame_Del DEL AAT AAT - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 AAT AAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 73780920 73780922 AAT - DEL UNK ENST00000293218 human ensembl 74_37 +1 known in_frame_del c.187_189 p.N64in_frame_del 1.000:1.000:1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors UNK HGNC ENSG00000132478 33 0 0 20 7 25.9259 UBE2O 0 genome.wustl.edu 37 17 74388088 74388089 + Frame_Shift_Ins INS - - G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 74388088 74388089 - G INS UBE2O ENST00000319380 human ensembl 74_37 -1 known frame_shift_ins c.3053_3052 p.H1018fs 1.000:1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2O HGNC ENSG00000175931 21 0 0 26 5 16.129 SNHG16 0 genome.wustl.edu 37 17 74557821 74557821 + RNA DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 74557821 74557821 T - DEL SNHG16 ENST00000591956 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG16 HGNC ENSG00000163597 32 0 0 21 3 12.5 ENGASE 0 genome.wustl.edu 37 17 77076398 77076399 + Frame_Shift_Ins INS - - T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 77076398 77076399 - T INS ENGASE ENST00000579016 human ensembl 74_37 +1 known frame_shift_ins c.675_676 p.R227fs 1.000:1.000 pfam_Glyco_hydro_85 pfam_Glyco_hydro_85,pfscan_BRCT_dom - no_errors ENGASE HGNC ENSG00000167280 91 0 0 68 19 21.8391 DNAH2 0 genome.wustl.edu 37 17 7734796 7734796 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 7734796 7734796 C - DEL DNAH2 ENST00000389173 human ensembl 74_37 +1 known frame_shift_del c.12548 p.L4185fs 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 73 0 0 49 16 24.6154 CBX4 0 genome.wustl.edu 37 17 77808750 77808751 + Frame_Shift_Ins INS - - G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 77808750 77808751 - G INS CBX4 ENST00000269397 human ensembl 74_37 -1 known frame_shift_ins c.691_690 p.N230fs 1.000:1.000 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,prints_Chromo_dom_subgr,pfscan_Chromo_domain/shadow - no_errors CBX4 HGNC ENSG00000141582 171 0 0 76 29 27.619 CNTROB 0 genome.wustl.edu 37 17 7851880 7851880 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 7851880 7851880 G - DEL CNTROB ENST00000380262 human ensembl 74_37 +1 known frame_shift_del c.2456 p.A821fs 0.981 NULL NULL - no_errors CNTROB HGNC ENSG00000170037 167 0 0 89 32 26.4463 CNTROB 0 genome.wustl.edu 37 17 7852808 7852809 + Frame_Shift_Ins INS - - G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 7852808 7852809 - G INS CNTROB ENST00000380262 human ensembl 74_37 +1 known frame_shift_ins c.2758_2759 p.V923fs 0.942:0.940 NULL NULL - no_errors CNTROB HGNC ENSG00000170037 68 0 0 48 16 25 CD7 0 genome.wustl.edu 37 17 80274823 80274823 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 17 80274823 80274823 G - DEL CD7 ENST00000312648 human ensembl 74_37 -1 known frame_shift_del c.117 p.V40fs 0.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors CD7 HGNC ENSG00000173762 70 0 0 40 14 25.9259 AFG3L2 0 genome.wustl.edu 37 18 12370885 12370885 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 18 12370885 12370885 T - DEL AFG3L2 ENST00000269143 human ensembl 74_37 -1 known frame_shift_del c.255 p.A86fs 0.983 NULL pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH - no_errors AFG3L2 HGNC ENSG00000141385 25 0 0 13 3 18.75 RBBP8 0 genome.wustl.edu 37 18 20572853 20572853 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 18 20572853 20572853 A - DEL RBBP8 ENST00000327155 human ensembl 74_37 +1 known frame_shift_del c.1063 p.K357fs 0.002 NULL pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP - no_errors RBBP8 HGNC ENSG00000101773 109 0 0 55 10 15.3846 CDH2 0 genome.wustl.edu 37 18 25570159 25570160 + Frame_Shift_Ins INS - - T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 18 25570159 25570160 - T INS CDH2 ENST00000269141 human ensembl 74_37 -1 known frame_shift_ins c.1500_1499 p.N500fs 1.000:1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH2 HGNC ENSG00000170558 140 0 0 56 25 30.8642 THOC1 0 genome.wustl.edu 37 18 265348 265348 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 18 265348 265348 T - DEL THOC1 ENST00000261600 human ensembl 74_37 -1 known frame_shift_del c.144 p.K48fs 1.000 NULL pfam_THO_THOC1,pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain - no_errors THOC1 HGNC ENSG00000079134 25 0 0 9 5 35.7143 TRAPPC8 0 genome.wustl.edu 37 18 29453418 29453418 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 18 29453418 29453418 A - DEL TRAPPC8 ENST00000283351 human ensembl 74_37 -1 known frame_shift_del c.2037 p.F679fs 1.000 NULL NULL - no_errors TRAPPC8 HGNC ENSG00000153339 43 0 0 20 7 25.9259 MRO 0 genome.wustl.edu 37 18 48331583 48331584 + Frame_Shift_Ins INS - - C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 18 48331583 48331584 - C INS MRO ENST00000436348 human ensembl 74_37 -1 known frame_shift_ins c.412_411 p.K137fs 0.976:0.996 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MRO HGNC ENSG00000134042 120 0 0 53 16 23.1884 MBD2 0 genome.wustl.edu 37 18 51750459 51750459 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 18 51750459 51750459 G - DEL MBD2 ENST00000256429 human ensembl 74_37 -1 known frame_shift_del c.471 p.G158fs 1.000 pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD2 HGNC ENSG00000134046 38 0 0 27 6 18.1818 ALPK2 0 genome.wustl.edu 37 18 56246440 56246440 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 18 56246440 56246440 T - DEL ALPK2 ENST00000361673 human ensembl 74_37 -1 known frame_shift_del c.1568 p.K523fs 0.000 NULL 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 370 0 0 151 67 30.7339 LMAN1 0 genome.wustl.edu 37 18 57013194 57013194 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 18 57013194 57013194 T - DEL LMAN1 ENST00000251047 human ensembl 74_37 -1 known frame_shift_del c.912 p.E305fs 0.898 superfamily_HMG_box_dom pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf,superfamily_HMG_box_dom - no_errors LMAN1 HGNC ENSG00000074695 124 1 0.8 57 45 44.1176 LMAN1 0 genome.wustl.edu 37 18 57013285 57013285 + Splice_Site DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 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 125 1 0.793651 80 24 23.0769 RTTN 0 genome.wustl.edu 37 18 67697249 67697249 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 18 67697249 67697249 T - DEL RTTN ENST00000255674 human ensembl 74_37 -1 known frame_shift_del c.5744 p.K1915fs 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 143 0 0 71 27 27.551 ZNF407 0 genome.wustl.edu 37 18 72775214 72775216 + In_Frame_Del DEL AGG AGG - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 18 72775214 72775216 AGG - DEL ZNF407 ENST00000299687 human ensembl 74_37 +1 known in_frame_del c.5537_5539 p.E1847in_frame_del 0.000:0.555:0.549 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ENSG00000215421 194 0 0 129 10 7.19424 ZADH2 0 genome.wustl.edu 37 18 72913756 72913756 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 18 72913756 72913756 C - DEL ZADH2 ENST00000322342 human ensembl 74_37 -1 known frame_shift_del c.749 p.G250fs 1.000 pfam_ADH_C,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors ZADH2 HGNC ENSG00000180011 109 0 0 85 29 25.4386 ANKRD12 0 genome.wustl.edu 37 18 9221974 9221975 + In_Frame_Ins INS - - TGA TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 18 9221974 9221975 - TGA INS ANKRD12 ENST00000262126 human ensembl 74_37 +1 known in_frame_ins c.920_921 p.311in_frame_insD 1.000:0.998 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 161 0 0 71 21 22.8261 RAVER1 0 genome.wustl.edu 37 19 10433828 10433828 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 10433828 10433828 C - DEL RAVER1 ENST00000293677 human ensembl 74_37 -1 known frame_shift_del c.1122 p.K375fs 0.999 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RAVER1 HGNC ENSG00000161847 13 0 0 8 8 50 AP1M2 0 genome.wustl.edu 37 19 10685628 10685628 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 10685628 10685628 G - DEL AP1M2 ENST00000590923 human ensembl 74_37 -1 known frame_shift_del c.1131 p.I378fs 0.935 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP1M2 HGNC ENSG00000129354 24 0 0 12 5 29.4118 ELAVL3 0 genome.wustl.edu 37 19 11577604 11577605 + Frame_Shift_Ins INS - - C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 11577604 11577605 - C INS ELAVL3 ENST00000359227 human ensembl 74_37 -1 known frame_shift_ins c.48_47 p.A18fs 1.000:1.000 NULL pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL3 HGNC ENSG00000196361 21 0 0 29 7 19.4444 ZNF490 0 genome.wustl.edu 37 19 12691724 12691725 + Frame_Shift_Ins INS - - T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 12691724 12691725 - T INS ZNF490 ENST00000311437 human ensembl 74_37 -1 known frame_shift_ins c.1165_1164 p.P388fs 1.000:1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF490 HGNC ENSG00000188033 99 0 0 52 22 29.7297 FBXW9 0 genome.wustl.edu 37 19 12800974 12800974 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 12800974 12800974 C - DEL FBXW9 ENST00000380339 human ensembl 74_37 -1 known frame_shift_del c.924 p.P309fs 0.002 superfamily_WD40_repeat_dom 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 FBXW9 HGNC ENSG00000132004 35 0 0 28 13 31.7073 DAZAP1 0 genome.wustl.edu 37 19 1425954 1425954 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 1425954 1425954 A - DEL DAZAP1 ENST00000233078 human ensembl 74_37 +1 known frame_shift_del c.541 p.V183fs 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors DAZAP1 HGNC ENSG00000071626 192 0 0 124 8 6.06061 ZNF66 0 genome.wustl.edu 37 19 20988745 20988745 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 20988745 20988745 A - DEL ZNF66 ENST00000344519 human ensembl 74_37 +1 known frame_shift_del c.339 p.G116fs 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 ZNF66 HGNC ENSG00000160229 41 0 0 53 22 29.3333 TSHZ3 0 genome.wustl.edu 37 19 31769061 31769062 + Frame_Shift_Ins INS - - C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 31769061 31769062 - C INS TSHZ3 ENST00000240587 human ensembl 74_37 -1 known frame_shift_ins c.1638_1637 p.Y547fs 1.000:1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 182 0 0 97 45 31.6901 NFIC 0 genome.wustl.edu 37 19 3449069 3449069 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 3449069 3449069 C - DEL NFIC ENST00000443272 human ensembl 74_37 +1 known frame_shift_del c.1016 p.Q341fs 0.997 pfam_CTF/NFI pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIC HGNC ENSG00000141905 55 0 0 51 18 26.087 KIRREL2 0 genome.wustl.edu 37 19 36357214 36357214 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 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 115 0 0 86 17 16.5049 ZNF790 0 genome.wustl.edu 37 19 37310238 37310238 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 37310238 37310238 T - DEL ZNF790 ENST00000356725 human ensembl 74_37 -1 known frame_shift_del c.1008 p.K336fs 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF790 HGNC ENSG00000197863 73 0 0 47 12 20.339 ZNF829 0 genome.wustl.edu 37 19 37382841 37382841 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 37382841 37382841 A - DEL ZNF829 ENST00000520965 human ensembl 74_37 -1 known frame_shift_del c.1095 p.L366fs 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF829 HGNC ENSG00000185869 50 0 0 34 11 24.4444 FAM98C 0 genome.wustl.edu 37 19 38899416 38899416 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 38899416 38899416 G - DEL FAM98C ENST00000252530 human ensembl 74_37 +1 known frame_shift_del c.944 p.G317fs 1.000 pfam_Uncharacterised_FAM98 pfam_Uncharacterised_FAM98 - no_errors FAM98C HGNC ENSG00000130244 140 1 0.70922 74 19 20.4301 CIC 0 genome.wustl.edu 37 19 42796882 42796883 + Frame_Shift_Ins INS - - C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 42796882 42796883 - C INS CIC ENST00000575354 human ensembl 74_37 +1 known frame_shift_ins c.3340_3341 p.S1117fs 1.000:0.993 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 112 0 0 76 18 19.1489 APOC1 0 genome.wustl.edu 37 19 45419666 45419666 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 45419666 45419666 A - DEL APOC1 ENST00000592885 human ensembl 74_37 +1 novel frame_shift_del c.278 p.T96fs 0.005 NULL pfam_ApoC-I - no_errors APOC1 HGNC ENSG00000130208 18 0 0 24 8 25 GIPR 0 genome.wustl.edu 37 19 46184926 46184926 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 46184926 46184926 C - DEL GIPR ENST00000263281 human ensembl 74_37 +1 known frame_shift_del c.1217 p.A408fs 0.001 NULL 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_GIP_rcpt,prints_GPCR_2_secretin-like - no_errors GIPR HGNC ENSG00000010310 58 0 0 41 26 38.806 DMPK 0 genome.wustl.edu 37 19 46274622 46274628 + Frame_Shift_Del DEL CCGTGGC CCGTGGC - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 CCGTGGC CCGTGGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 46274622 46274628 CCGTGGC - DEL DMPK ENST00000343373 human ensembl 74_37 -1 known frame_shift_del c.1663_1657 p.A553fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors DMPK HGNC ENSG00000104936 83 0 0 43 16 27.1186 GLTSCR1 0 genome.wustl.edu 37 19 48197891 48197891 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 48197891 48197891 C - DEL GLTSCR1 ENST00000396720 human ensembl 74_37 +1 known frame_shift_del c.2803 p.P937fs 0.226 NULL NULL - no_errors GLTSCR1 HGNC ENSG00000063169 50 0 0 21 10 32.2581 ZNF114 0 genome.wustl.edu 37 19 48789818 48789818 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 48789818 48789818 T - DEL ZNF114 ENST00000315849 human ensembl 74_37 +1 known frame_shift_del c.937 p.Y315fs 0.070 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF114 HGNC ENSG00000178150 75 0 0 81 25 23.5849 BAX 0 genome.wustl.edu 37 19 49458971 49458971 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 49458971 49458971 G - DEL BAX ENST00000293288 human ensembl 74_37 +1 known frame_shift_del c.114 p.E41fs 0.588 NULL pfam_Blc2_fam,pfscan_Bcl2-like,prints_Blc2_fam - no_errors BAX HGNC ENSG00000087088 113 1 0.877193 52 20 27.7778 MED25 0 genome.wustl.edu 37 19 50333994 50333995 + Frame_Shift_Ins INS - - C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 50333994 50333995 - C INS MED25 ENST00000312865 human ensembl 74_37 +1 known frame_shift_ins c.951_952 p.F319fs 0.765:0.979 pfam_Mediator_Med25_SD1 pfam_Mediator_Med25_VWA,pfam_Mediator_Med25,pfam_Mediator_Med25_SD1,pfam_Mediator_Med25_NR-box - no_errors MED25 HGNC ENSG00000104973 102 0 0 74 9 10.8434 PTOV1 0 genome.wustl.edu 37 19 50363526 50363527 + Frame_Shift_Ins INS - - G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 50363526 50363527 - G INS PTOV1 ENST00000391842 human ensembl 74_37 +1 known frame_shift_ins c.1241_1242 p.*417fs 1.000:1.000 NULL pfam_Mediator_Med25 - no_errors PTOV1 HGNC ENSG00000104960 30 0 0 33 12 26.6667 POLD1 0 genome.wustl.edu 37 19 50905061 50905061 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 50905061 50905061 C - DEL POLD1 ENST00000440232 human ensembl 74_37 +1 known frame_shift_del c.343 p.P116fs 0.175 NULL 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,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLD1 HGNC ENSG00000062822 103 0 0 95 7 6.86275 LIM2 0 genome.wustl.edu 37 19 51890512 51890512 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 51890512 51890512 G - DEL LIM2 ENST00000221973 human ensembl 74_37 -1 known frame_shift_del c.186 p.G63fs 0.000 NULL pfam_PMP22/EMP/MP20/Claudin,prints_LMIP,prints_PMP22_EMP_MP20 - no_errors LIM2 HGNC ENSG00000105370 169 0 0 97 11 10.1852 LENG1 0 genome.wustl.edu 37 19 54660653 54660654 + Frame_Shift_Ins INS - - G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 54660653 54660654 - G INS LENG1 ENST00000222224 human ensembl 74_37 -1 known frame_shift_ins c.423_422 p.P142fs 0.000:0.000 NULL NULL - no_errors LENG1 HGNC ENSG00000105617 124 0 0 73 35 32.4074 PEG3 0 genome.wustl.edu 37 19 57328919 57328919 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 57328919 57328919 T - DEL PEG3 ENST00000326441 human ensembl 74_37 -1 known frame_shift_del c.891 p.K297fs 0.162 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 125 0 0 54 5 8.47458 USP29 0 genome.wustl.edu 37 19 57640238 57640239 + Frame_Shift_Ins INS - - A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 57640238 57640239 - A INS USP29 ENST00000254181 human ensembl 74_37 +1 known frame_shift_ins c.195_196 p.R67fs 0.000:0.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP29 HGNC ENSG00000131864 48 0 0 33 9 21.4286 ZNF416 0 genome.wustl.edu 37 19 58084579 58084579 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 58084579 58084579 A - DEL ZNF416 ENST00000196489 human ensembl 74_37 -1 known frame_shift_del c.693 p.H232fs 0.065 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 ZNF416 HGNC ENSG00000083817 283 1 0.352113 114 54 32.1429 FUT6 0 genome.wustl.edu 37 19 5832343 5832344 + Frame_Shift_Ins INS - - G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 5832343 5832344 - G INS FUT6 ENST00000592563 human ensembl 74_37 -1 known frame_shift_ins c.236_235 p.R79fs 0.508:0.863 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT6 HGNC ENSG00000156413 103 0 0 69 23 25 ZNF329 0 genome.wustl.edu 37 19 58640438 58640439 + Frame_Shift_Del DEL TC TC - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 58640438 58640439 TC - DEL ZNF329 ENST00000358067 human ensembl 74_37 -1 known frame_shift_del c.433_432 p.K145fs 0.939:0.962 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF329 HGNC ENSG00000181894 118 0 0 42 25 37.3134 DENND1C 0 genome.wustl.edu 37 19 6468935 6468936 + Frame_Shift_Ins INS - - C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 6468935 6468936 - C INS DENND1C ENST00000381480 human ensembl 74_37 -1 known frame_shift_ins c.1437_1436 p.S480fs 0.995:1.000 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 DENND1C HGNC ENSG00000205744 39 0 0 11 10 47.619 TRIP10 0 genome.wustl.edu 37 19 6750379 6750380 + Frame_Shift_Ins INS - - C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 6750379 6750380 - C INS TRIP10 ENST00000313244 human ensembl 74_37 +1 known frame_shift_ins c.1472_1473 p.A494fs 0.994:0.994 NULL pfam_FCH_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain - no_errors TRIP10 HGNC ENSG00000125733 121 0 0 93 20 17.6991 OR7E24 0 genome.wustl.edu 37 19 9362157 9362157 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 19 9362157 9362157 C - DEL OR7E24 ENST00000456448 human ensembl 74_37 +1 known frame_shift_del c.438 p.L148fs 0.904 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 OR7E24 HGNC ENSG00000237521 55 0 0 39 19 32.7586 AFF3 0 genome.wustl.edu 37 2 100218011 100218013 + In_Frame_Del DEL GCT GCT - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 GCT GCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 100218011 100218013 GCT - DEL AFF3 ENST00000356421 human ensembl 74_37 -1 known in_frame_del c.1332_1330 p.S444in_frame_del 1.000:1.000:1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 20 0 0 12 6 33.3333 ENSG00000231731 0 genome.wustl.edu 37 2 128263364 128263366 + RNA DEL AAA AAA - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 128263364 128263366 AAA - DEL ENSG00000231731 ENST00000599001 human ensembl 74_37 +1 known rna NULL NULL 0.233:0.319:0.309 - - - no_errors AC010976.2 Clone_based_vega_gene ENSG00000231731 31 0 0 16 28 63.6364 ACVR2A 0 genome.wustl.edu 37 2 148683686 148683686 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 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 122 0 0 28 44 61.1111 MBD5 0 genome.wustl.edu 37 2 149240905 149240905 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 149240905 149240905 C - DEL MBD5 ENST00000407073 human ensembl 74_37 +1 known frame_shift_del c.2745 p.S917fs 1.000 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP_dom - no_errors MBD5 HGNC ENSG00000204406 247 0 0 158 39 19.797 TNFAIP6 0 genome.wustl.edu 37 2 152236046 152236049 + Frame_Shift_Del DEL AAAA AAAA - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 152236046 152236049 AAAA - DEL TNFAIP6 ENST00000243347 human ensembl 74_37 +1 known frame_shift_del c.833_834 p.*278fs 0.961:0.953 NULL 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 33 0 0 29 19 39.5833 RIF1 0 genome.wustl.edu 37 2 152319553 152319553 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 152319553 152319553 A - DEL RIF1 ENST00000243326 human ensembl 74_37 +1 known frame_shift_del c.3519 p.A1176fs 0.019 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 58 0 0 38 11 22.449 GALNT5 0 genome.wustl.edu 37 2 158115793 158115793 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 158115793 158115793 C - DEL GALNT5 ENST00000259056 human ensembl 74_37 +1 known frame_shift_del c.1199 p.S402fs 0.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT5 HGNC ENSG00000136542 91 0 0 68 17 20 MYCN 0 genome.wustl.edu 37 2 16082314 16082314 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 16082314 16082314 C - DEL MYCN ENST00000281043 human ensembl 74_37 +1 known frame_shift_del c.128 p.P45fs 1.000 pfam_Tscrpt_reg_Myc_N,prints_Tscrpt_reg_Myc pfam_Tscrpt_reg_Myc_N,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc - no_errors MYCN HGNC ENSG00000134323 82 0 0 30 13 30.2326 KLHL41 0 genome.wustl.edu 37 2 170371384 170371385 + Frame_Shift_Ins INS - - A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 170371384 170371385 - A INS KLHL41 ENST00000284669 human ensembl 74_37 +1 known frame_shift_ins c.1289_1290 p.L433fs 0.995:0.085 pfam_Kelch_1,smart_Kelch_1,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 KLHL41 HGNC ENSG00000239474 69 0 0 52 18 25.7143 PPIG 0 genome.wustl.edu 37 2 170493804 170493804 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 170493804 170493804 A - DEL PPIG ENST00000260970 human ensembl 74_37 +1 known frame_shift_del c.2036 p.K681fs 0.885 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIG HGNC ENSG00000138398 69 0 0 37 11 22.9167 RAD51AP2 0 genome.wustl.edu 37 2 17698737 17698737 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 17698737 17698737 T - DEL RAD51AP2 ENST00000399080 human ensembl 74_37 -1 known frame_shift_del c.946 p.T316fs 0.003 NULL NULL - no_errors RAD51AP2 HGNC ENSG00000214842 52 0 0 27 5 15.625 HOXD8 0 genome.wustl.edu 37 2 176995417 176995417 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 176995417 176995417 C - DEL HOXD8 ENST00000313173 human ensembl 74_37 +1 known frame_shift_del c.323 p.P110fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors HOXD8 HGNC ENSG00000175879 70 0 0 56 47 45.6311 ENSG00000271011 0 genome.wustl.edu 37 2 179442293 179442293 + RNA DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 179442293 179442293 A - DEL ENSG00000271011 ENST00000604215 human ensembl 74_37 +1 known rna NULL NULL 0.038 - - - no_errors RP11-171I2.5 Clone_based_vega_gene ENSG00000271011 17 0 0 13 9 40.9091 TTN 0 genome.wustl.edu 37 2 179518956 179518957 + Frame_Shift_Ins INS - - T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 179518956 179518957 - T INS TTN ENST00000589042 human ensembl 74_37 -1 putative frame_shift_ins c.38359_38358 p.P12786fs 0.018:0.007 pfam_PPAK_motif,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_PPAK_motif,pfam_Titin_Z,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,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,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 200 1 0.497512 84 33 28.2051 DNAH7 0 genome.wustl.edu 37 2 196866535 196866535 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 196866535 196866535 T - DEL DNAH7 ENST00000312428 human ensembl 74_37 -1 known frame_shift_del c.1037 p.K346fs 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 45 0 0 39 8 17.0213 BMPR2 0 genome.wustl.edu 37 2 203420130 203420130 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 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 91 0 0 46 9 16.3636 NRP2 0 genome.wustl.edu 37 2 206628531 206628532 + Frame_Shift_Ins INS - - G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 206628531 206628532 - G INS NRP2 ENST00000360409 human ensembl 74_37 +1 known frame_shift_ins c.2178_2179 p.V727fs 0.991:1.000 pirsf_Neuropilin,pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom - no_errors NRP2 HGNC ENSG00000118257 104 0 0 77 55 41.6667 KANSL1L 0 genome.wustl.edu 37 2 210889881 210889882 + Frame_Shift_Del DEL CT CT - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 210889881 210889882 CT - DEL KANSL1L ENST00000281772 human ensembl 74_37 -1 known frame_shift_del c.2511_2510 p.E837fs 1.000:1.000 NULL NULL - no_errors KANSL1L HGNC ENSG00000144445 175 0 0 62 20 24.3902 KCNE4 0 genome.wustl.edu 37 2 223917787 223917787 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 223917787 223917787 G - DEL KCNE4 ENST00000281830 human ensembl 74_37 +1 known frame_shift_del c.392 p.E133fs 1.000 pfam_K_chnl_volt-dep_bsu_KCNE pfam_K_chnl_volt-dep_bsu_KCNE,prints_K_chnl_volt-dep_bsu_KCNE - no_errors KCNE4 HGNC ENSG00000152049 127 0 0 86 7 7.52688 IRS1 0 genome.wustl.edu 37 2 227661671 227661672 + Frame_Shift_Ins INS - - A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 227661671 227661672 - A INS IRS1 ENST00000305123 human ensembl 74_37 -1 known frame_shift_ins c.1784_1783 p.R595fs 0.011:0.012 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 93 0 0 45 17 27.4194 AGAP1 0 genome.wustl.edu 37 2 236649676 236649677 + Frame_Shift_Ins INS - - C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 236649676 236649677 - C INS AGAP1 ENST00000304032 human ensembl 74_37 +1 known frame_shift_ins c.380_381 p.E130fs 1.000:0.952 pfam_MIRO-like,pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase 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 52 0 0 46 12 20.6897 HDLBP 0 genome.wustl.edu 37 2 242179467 242179467 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 242179467 242179467 C - DEL HDLBP ENST00000310931 human ensembl 74_37 -1 known frame_shift_del c.2240 p.G747fs 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 242 0 0 110 28 20.2899 ZFP36L2 0 genome.wustl.edu 37 2 43452622 43452623 + Frame_Shift_Ins INS - - C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 43452622 43452623 - C INS ZFP36L2 ENST00000282388 human ensembl 74_37 -1 known frame_shift_ins c.321_320 p.G108fs 0.998:1.000 pfam_Tis11B_N pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L2 HGNC ENSG00000152518 44 0 0 12 8 40 MCEE 0 genome.wustl.edu 37 2 71337212 71337212 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 71337212 71337212 T - DEL MCEE ENST00000244217 human ensembl 74_37 -1 known frame_shift_del c.419 p.K140fs 1.000 pfam_Glyas_Fos-R_dOase_dom,tigrfam_MeMalonyl-CoA_epimerase pfam_Glyas_Fos-R_dOase_dom,tigrfam_MeMalonyl-CoA_epimerase - no_errors MCEE HGNC ENSG00000124370 56 0 0 20 6 23.0769 ZNF638 0 genome.wustl.edu 37 2 71658434 71658434 + RNA DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 71658434 71658434 T - DEL ZNF638 ENST00000488126 human ensembl 74_37 +1 known rna NULL NULL 0.013 - - - no_errors ZNF638 HGNC ENSG00000075292 47 0 0 16 16 50 TPRKB 0 genome.wustl.edu 37 2 73957880 73957881 + RNA INS - - A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 73957880 73957881 - A INS TPRKB ENST00000485758 human ensembl 74_37 -1 putative rna NULL NULL 0.000:0.004 - - - no_errors TPRKB HGNC ENSG00000144034 27 0 0 14 4 22.2222 WBP1 0 genome.wustl.edu 37 2 74687409 74687410 + Frame_Shift_Ins INS - - C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 74687409 74687410 - C INS WBP1 ENST00000233615 human ensembl 74_37 +1 known frame_shift_ins c.411_412 p.Y140fs 0.119:0.993 pfam_Uncharacterised_WW-bd pfam_Uncharacterised_WW-bd - no_errors WBP1 HGNC ENSG00000239779 195 1 0.510204 105 43 29.0541 ANKRD23 0 genome.wustl.edu 37 2 97507820 97507821 + Frame_Shift_Ins INS - - G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 97507820 97507821 - G INS ANKRD23 ENST00000318357 human ensembl 74_37 -1 known frame_shift_ins c.277_276 p.R92fs 0.876:0.906 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD23 HGNC ENSG00000163126 160 0 0 131 30 18.6335 EIF5B 0 genome.wustl.edu 37 2 99977673 99977674 + Frame_Shift_Ins INS - - A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 2 99977673 99977674 - A INS EIF5B ENST00000289371 human ensembl 74_37 +1 known frame_shift_ins c.309_310 p.Q105fs 1.000:1.000 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 73 0 0 59 16 21.3333 DZANK1 0 genome.wustl.edu 37 20 18414186 18414189 + RNA DEL AAAA AAAA - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 18414186 18414189 AAAA - DEL DZANK1 ENST00000460891 human ensembl 74_37 -1 known rna NULL NULL 0.014:0.025:0.045:0.053 - - - no_errors DZANK1 HGNC ENSG00000089091 12 0 0 2 3 60 ZNF337 0 genome.wustl.edu 37 20 25657323 25657324 + Frame_Shift_Ins INS - - T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 25657323 25657324 - T INS ZNF337 ENST00000252979 human ensembl 74_37 -1 known frame_shift_ins c.601_600 p.A200fs 0.008:0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF337 HGNC ENSG00000130684 159 0 0 65 49 42.9825 FASTKD5 0 genome.wustl.edu 37 20 3127716 3127717 + Frame_Shift_Ins INS - - C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 3127716 3127717 - C INS FASTKD5 ENST00000380266 human ensembl 74_37 -1 known frame_shift_ins c.2001_2000 p.F668fs 0.000:0.000 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD5 HGNC ENSG00000215251 91 0 0 58 29 33.3333 ASIP 0 genome.wustl.edu 37 20 32856834 32856834 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 32856834 32856834 C - DEL ASIP ENST00000374954 human ensembl 74_37 +1 known frame_shift_del c.260 p.L89fs 0.041 pfam_Agouti,smart_Agouti pfam_Agouti,superfamily_Agouti_dom,smart_Agouti,pfscan_Agouti_dom - no_errors ASIP HGNC ENSG00000101440 24 0 0 13 6 31.5789 RALGAPB 0 genome.wustl.edu 37 20 37146233 37146233 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 37146233 37146233 C - DEL RALGAPB ENST00000262879 human ensembl 74_37 +1 known frame_shift_del c.1136 p.P381fs 1.000 NULL superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPB HGNC ENSG00000170471 124 0 0 78 22 22 SPEF1 0 genome.wustl.edu 37 20 3759583 3759583 + RNA DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 3759583 3759583 A - DEL SPEF1 ENST00000463490 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SPEF1 HGNC ENSG00000101222 79 0 0 47 11 18.9655 SRSF6 0 genome.wustl.edu 37 20 42086773 42086773 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 42086773 42086773 A - DEL SRSF6 ENST00000244020 human ensembl 74_37 +1 known frame_shift_del c.100 p.N35fs 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF6 HGNC ENSG00000124193 48 0 0 40 10 20 MMP9 0 genome.wustl.edu 37 20 44641953 44641953 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 44641953 44641953 C - DEL MMP9 ENST00000372330 human ensembl 74_37 +1 known frame_shift_del c.1390 p.P465fs 0.010 NULL 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 179 0 0 121 47 27.9762 CD40 0 genome.wustl.edu 37 20 44755294 44755294 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 44755294 44755294 C - DEL CD40 ENST00000372285 human ensembl 74_37 +1 known frame_shift_del c.513 p.L172fs 0.001 smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_5,prints_Fas_rcpt - no_errors CD40 HGNC ENSG00000101017 104 0 0 54 22 28.9474 DDX27 0 genome.wustl.edu 37 20 47858504 47858504 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 47858504 47858504 A - DEL DDX27 ENST00000371764 human ensembl 74_37 +1 known frame_shift_del c.2065 p.K691fs 1.000 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 DDX27 HGNC ENSG00000124228 137 1 0.724638 68 37 35.2381 FAM65C 0 genome.wustl.edu 37 20 49203727 49203727 + RNA DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 49203727 49203727 A - DEL FAM65C ENST00000462842 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors FAM65C HGNC ENSG00000042062 29 0 0 7 3 30 DOK5 0 genome.wustl.edu 37 20 53092463 53092463 + RNA DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 53092463 53092463 G - DEL DOK5 ENST00000491469 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors DOK5 HGNC ENSG00000101134 21 0 0 26 9 25.7143 PMEPA1 0 genome.wustl.edu 37 20 56227349 56227349 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 56227349 56227349 G - DEL PMEPA1 ENST00000341744 human ensembl 74_37 -1 known frame_shift_del c.624 p.S209fs 0.979 NULL NULL - no_errors PMEPA1 HGNC ENSG00000124225 95 0 0 47 12 20.339 CDH26 0 genome.wustl.edu 37 20 58587784 58587785 + Frame_Shift_Del DEL AA AA - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 58587784 58587785 AA - DEL CDH26 ENST00000348616 human ensembl 74_37 +1 known frame_shift_del c.2498_2499 p.*833fs 0.000:0.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH26 HGNC ENSG00000124215 44 0 0 25 11 30.5556 ZGPAT 0 genome.wustl.edu 37 20 62366642 62366642 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 20 62366642 62366642 C - DEL ZGPAT ENST00000328969 human ensembl 74_37 +1 known frame_shift_del c.1183 p.R397fs 0.000 NULL pfam_G_patch_dom,smart_Znf_CCCH,smart_G_patch_dom,pfscan_G_patch_dom - no_errors ZGPAT HGNC ENSG00000197114 36 0 0 17 7 29.1667 RWDD2B 0 genome.wustl.edu 37 21 30378685 30378685 + RNA DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 21 30378685 30378685 A - DEL RWDD2B ENST00000286777 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RWDD2B HGNC ENSG00000156253 21 0 0 11 7 38.8889 SYNJ1 0 genome.wustl.edu 37 21 34029062 34029062 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 21 34029062 34029062 A - DEL SYNJ1 ENST00000433931 human ensembl 74_37 -1 known frame_shift_del c.2847 p.F949fs 0.999 pfam_DUF1866,pfscan_RRM_dom pfam_Syja_N,pfam_Endo/exonuclease/phosphatase,pfam_DUF1866,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ1 HGNC ENSG00000159082 50 0 0 21 6 22.2222 TTC3 0 genome.wustl.edu 37 21 38524243 38524243 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 21 38524243 38524243 A - DEL TTC3 ENST00000354749 human ensembl 74_37 +1 known frame_shift_del c.2327 p.E779fs 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 58 0 0 41 25 37.8788 DSCR9 0 genome.wustl.edu 37 21 38594001 38594001 + RNA DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 21 38594001 38594001 A - DEL DSCR9 ENST00000454482 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DSCR9 HGNC ENSG00000230366 13 0 0 14 3 17.6471 TFF3 0 genome.wustl.edu 37 21 43733676 43733677 + Frame_Shift_Ins INS - - G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 21 43733676 43733677 - G INS TFF3 ENST00000291525 human ensembl 74_37 -1 known frame_shift_ins c.298_297 p.K99fs 0.000:0.000 pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,prints_P_trefoil_chordata pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,prints_P_trefoil_chordata - no_errors TFF3 HGNC ENSG00000160180 59 0 0 34 14 29.1667 RRP1B 0 genome.wustl.edu 37 21 45096710 45096710 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 21 45096710 45096710 A - DEL RRP1B ENST00000340648 human ensembl 74_37 +1 known frame_shift_del c.711 p.V239fs 0.000 NULL pfam_Nop52 - no_errors RRP1B HGNC ENSG00000160208 135 0 0 121 9 6.92308 UBE2G2 0 genome.wustl.edu 37 21 46191156 46191157 + RNA DEL AA AA - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 21 46191156 46191157 AA - DEL UBE2G2 ENST00000477954 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.000 - - - no_errors UBE2G2 HGNC ENSG00000184787 10 0 0 6 5 45.4545 MCM3AP 0 genome.wustl.edu 37 21 47663396 47663397 + Frame_Shift_Ins INS - - G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 21 47663396 47663397 - G INS MCM3AP ENST00000291688 human ensembl 74_37 -1 known frame_shift_ins c.5279_5278 p.R1760fs 0.278:0.019 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ENSG00000160294 211 0 0 127 15 10.5634 PCNT 0 genome.wustl.edu 37 21 47831672 47831673 + Frame_Shift_Ins INS - - T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 21 47831672 47831673 - T INS PCNT ENST00000359568 human ensembl 74_37 +1 known frame_shift_ins c.5685_5686 p.L1895fs 0.002:0.000 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 39 0 0 39 17 30.3571 GNAZ 0 genome.wustl.edu 37 22 23438488 23438488 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 23438488 23438488 G - DEL GNAZ ENST00000248996 human ensembl 74_37 +1 known frame_shift_del c.606 p.Q205fs 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_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 207 0 0 186 11 5.58376 BCR 0 genome.wustl.edu 37 22 23523816 23523816 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 23523816 23523816 G - DEL BCR ENST00000305877 human ensembl 74_37 +1 known frame_shift_del c.669 p.D225fs 0.013 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 93 0 0 74 28 27.451 DDT 0 genome.wustl.edu 37 22 24313795 24313795 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 24313795 24313795 A - DEL DDT ENST00000350608 human ensembl 74_37 -1 known frame_shift_del c.302 p.F101fs 0.001 pfam_Macrophage_inhib_fac,superfamily_Tautomerase/MIF_sf pfam_Macrophage_inhib_fac,superfamily_Tautomerase/MIF_sf - no_errors DDT HGNC ENSG00000099977 92 0 0 46 19 29.2308 SPECC1L 0 genome.wustl.edu 37 22 24726351 24726351 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 24726351 24726351 A - DEL SPECC1L ENST00000314328 human ensembl 74_37 +1 known frame_shift_del c.2348 p.N785fs 1.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_bHLH_dom,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1L HGNC ENSG00000100014 185 0 0 141 54 27.6923 TIMP3 0 genome.wustl.edu 37 22 33255323 33255324 + Frame_Shift_Ins INS - - C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 33255323 33255324 - C INS TIMP3 ENST00000266085 human ensembl 74_37 +1 known frame_shift_ins c.595_596 p.D202fs 1.000:0.990 NULL pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain - no_errors TIMP3 HGNC ENSG00000100234 37 0 0 32 22 40.7407 HMGXB4 0 genome.wustl.edu 37 22 35659156 35659156 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 35659156 35659156 T - DEL HMGXB4 ENST00000216106 human ensembl 74_37 +1 known frame_shift_del c.117 p.L41fs 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors HMGXB4 HGNC ENSG00000100281 79 0 0 39 13 25 MKL1 0 genome.wustl.edu 37 22 40816541 40816542 + Frame_Shift_Ins INS - - G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 40816541 40816542 - G INS MKL1 ENST00000355630 human ensembl 74_37 -1 known frame_shift_ins c.921_920 p.V308fs 0.000:0.025 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MKL1 HGNC ENSG00000196588 150 0 0 106 7 6.19469 TCF20 0 genome.wustl.edu 37 22 42606574 42606575 + Frame_Shift_Ins INS - - T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 42606574 42606575 - T INS TCF20 ENST00000359486 human ensembl 74_37 -1 known frame_shift_ins c.4738_4737 p.Q1579fs 0.995:0.969 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 129 0 0 58 35 37.6344 EFCAB6 0 genome.wustl.edu 37 22 43924633 43924634 + RNA INS - - T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 43924633 43924634 - T INS EFCAB6 ENST00000461800 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.000 - - - no_errors EFCAB6 HGNC ENSG00000186976 34 0 0 19 9 32.1429 MAPK12 0 genome.wustl.edu 37 22 50696732 50696733 + Splice_Site INS - - G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 50696732 50696733 - G INS MAPK12 ENST00000215659 human ensembl 74_37 -1 known splice_site_ins c.256-3_256-2 e3-2 1.000:0.993 - - - no_errors MAPK12 HGNC ENSG00000188130 103 0 0 59 19 24.359 PLXNB2 0 genome.wustl.edu 37 22 50721829 50721830 + Frame_Shift_Ins INS - - C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 50721829 50721830 - C INS PLXNB2 ENST00000359337 human ensembl 74_37 -1 known frame_shift_ins c.2616_2615 p.V873fs 0.000:0.025 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,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 PLXNB2 HGNC ENSG00000196576 93 0 0 62 24 27.907 SBF1 0 genome.wustl.edu 37 22 50898756 50898756 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 22 50898756 50898756 G - DEL SBF1 ENST00000380817 human ensembl 74_37 -1 known frame_shift_del c.3228 p.S1077fs 0.039 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 115 1 0.862069 70 46 39.6552 TBC1D23 0 genome.wustl.edu 37 3 100039736 100039737 + Frame_Shift_Del DEL AA AA - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 100039736 100039737 AA - DEL TBC1D23 ENST00000394144 human ensembl 74_37 +1 known frame_shift_del c.1939_1940 p.K649fs 1.000:1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_Rhodanese-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Rhodanese-like_dom - no_errors TBC1D23 HGNC ENSG00000036054 42 0 0 29 8 21.6216 ZBTB20 0 genome.wustl.edu 37 3 114058003 114058003 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 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 74 0 0 97 7 6.73077 PDIA5 0 genome.wustl.edu 37 3 122869089 122869089 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 122869089 122869089 C - DEL PDIA5 ENST00000316218 human ensembl 74_37 +1 known frame_shift_del c.1151 p.P386fs 1.000 superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,prints_Thioredoxin - no_errors PDIA5 HGNC ENSG00000065485 107 1 0.925926 76 27 26.2136 SLC41A3 0 genome.wustl.edu 37 3 125725966 125725966 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 125725966 125725966 C - DEL SLC41A3 ENST00000315891 human ensembl 74_37 -1 known frame_shift_del c.1357 p.D453fs 1.000 pfam_SLC41_membr_dom pfam_SLC41_membr_dom,superfamily_Acyl_Trfase/lysoPLipase - no_errors SLC41A3 HGNC ENSG00000114544 96 0 0 44 25 36.2319 CCDC37 0 genome.wustl.edu 37 3 126142183 126142183 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 126142183 126142183 C - DEL CCDC37 ENST00000393425 human ensembl 74_37 +1 known frame_shift_del c.1101 p.T370fs 0.000 NULL superfamily_SuperAg_toxin_C - no_errors CCDC37 HGNC ENSG00000163885 38 0 0 26 5 16.129 PLXNA1 0 genome.wustl.edu 37 3 126735391 126735391 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 126735391 126735391 C - DEL PLXNA1 ENST00000393409 human ensembl 74_37 +1 known frame_shift_del c.3046 p.Q1019fs 0.981 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 PLXNA1 HGNC ENSG00000114554 132 0 0 60 20 25 GATA2 0 genome.wustl.edu 37 3 128199894 128199894 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 128199894 128199894 G - DEL GATA2 ENST00000341105 human ensembl 74_37 -1 known frame_shift_del c.1411 p.H471fs 1.000 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA2 HGNC ENSG00000179348 33 0 0 19 6 24 SLCO2A1 0 genome.wustl.edu 37 3 133670083 133670083 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 133670083 133670083 A - DEL SLCO2A1 ENST00000310926 human ensembl 74_37 -1 known frame_shift_del c.830 p.F277fs 1.000 pfam_OA_transporter,pfam_MFS,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 SLCO2A1 HGNC ENSG00000174640 124 1 0.8 71 37 34.2593 PPP2R3A 0 genome.wustl.edu 37 3 135720729 135720729 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 135720729 135720729 A - DEL PPP2R3A ENST00000264977 human ensembl 74_37 +1 known frame_shift_del c.389 p.K131fs 1.000 NULL pfscan_EF_hand_dom - no_errors PPP2R3A HGNC ENSG00000073711 58 0 0 29 17 36.9565 RASA2 0 genome.wustl.edu 37 3 141327450 141327450 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 141327450 141327450 T - DEL RASA2 ENST00000452898 human ensembl 74_37 +1 known frame_shift_del c.2139 p.Y715fs 0.002 pfam_Znf_Btk_motif,smart_Znf_Btk_motif,pfscan_Znf_Btk_motif,prints_Znf_Btk_motif pfam_RasGAP,pfam_C2_dom,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA2 HGNC ENSG00000155903 110 0 0 38 23 37.7049 GK5 0 genome.wustl.edu 37 3 141923492 141923492 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 141923492 141923492 A - DEL GK5 ENST00000487672 human ensembl 74_37 -1 known frame_shift_del c.456 p.L153fs 0.000 NULL pfam_Carb_kinase_FGGY_N - no_errors GK5 HGNC ENSG00000175066 44 0 0 34 15 30.6122 MBNL1 0 genome.wustl.edu 37 3 152017898 152017898 + RNA DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 152017898 152017898 T - DEL MBNL1 ENST00000461436 human ensembl 74_37 +1 putative rna NULL NULL 0.026 - - - no_errors MBNL1 HGNC ENSG00000152601 13 0 0 4 20 83.3333 SMC4 0 genome.wustl.edu 37 3 160143940 160143940 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 160143940 160143940 A - DEL SMC4 ENST00000344722 human ensembl 74_37 +1 known frame_shift_del c.2557 p.K855fs 0.998 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase,superfamily_Chemotax_Me-accpt_rcpt_lig-bd pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC ENSG00000113810 261 0 0 158 39 19.797 WDR49 0 genome.wustl.edu 37 3 167223102 167223102 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 167223102 167223102 T - DEL WDR49 ENST00000308378 human ensembl 74_37 -1 known frame_shift_del c.1821 p.K607fs 0.005 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 WDR49 HGNC ENSG00000174776 38 0 0 30 6 16.6667 ABCC5 0 genome.wustl.edu 37 3 183665257 183665257 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 183665257 183665257 A - DEL ABCC5 ENST00000334444 human ensembl 74_37 -1 known frame_shift_del c.3269 p.L1090fs 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom 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 - no_errors ABCC5 HGNC ENSG00000114770 52 0 0 38 7 15.5556 TRA2B 0 genome.wustl.edu 37 3 185641779 185641780 + RNA DEL AA AA - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 185641779 185641780 AA - DEL TRA2B ENST00000465245 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors TRA2B HGNC ENSG00000136527 51 0 0 19 12 38.7097 DNAJB11 0 genome.wustl.edu 37 3 186293717 186293717 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 186293717 186293717 T - DEL DNAJB11 ENST00000265028 human ensembl 74_37 +1 known frame_shift_del c.314 p.S107fs 1.000 NULL pfam_DnaJ_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB11 HGNC ENSG00000090520 75 0 0 49 17 25.7576 UTS2B 0 genome.wustl.edu 37 3 190999981 190999982 + RNA INS - - A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 190999981 190999982 - A INS UTS2B ENST00000463450 human ensembl 74_37 -1 known rna NULL NULL 0.394:0.384 - - - no_errors UTS2B HGNC ENSG00000188958 27 0 0 22 6 21.4286 HRASLS 0 genome.wustl.edu 37 3 192980889 192980889 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 192980889 192980889 C - DEL HRASLS ENST00000264735 human ensembl 74_37 +1 known frame_shift_del c.585 p.P197fs 0.184 pfam_LRAT-like_dom pfam_LRAT-like_dom - no_errors HRASLS HGNC ENSG00000127252 169 0 0 65 34 34.3434 KCNH8 0 genome.wustl.edu 37 3 19554728 19554728 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 19554728 19554728 C - DEL KCNH8 ENST00000328405 human ensembl 74_37 +1 known frame_shift_del c.2346 p.N785fs 0.020 NULL 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 123 0 0 65 17 20.7317 NRROS 0 genome.wustl.edu 37 3 196388325 196388325 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 196388325 196388325 G - DEL NRROS ENST00000328557 human ensembl 74_37 +1 known frame_shift_del c.1811 p.A606fs 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors NRROS HGNC ENSG00000174004 138 0 0 103 7 6.36364 KIAA0226 0 genome.wustl.edu 37 3 197427915 197427915 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 197427915 197427915 G - DEL KIAA0226 ENST00000296343 human ensembl 74_37 -1 known frame_shift_del c.830 p.P277fs 0.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors KIAA0226 HGNC ENSG00000145016 110 0 0 67 28 29.4737 SGOL1 0 genome.wustl.edu 37 3 20212755 20212756 + RNA DEL AA AA - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 20212755 20212756 AA - DEL SGOL1 ENST00000460637 human ensembl 74_37 -1 putative rna NULL NULL 0.000:0.000 - - - no_errors SGOL1 HGNC ENSG00000129810 31 0 0 5 11 68.75 ULK4 0 genome.wustl.edu 37 3 41860985 41860985 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 41860985 41860985 T - DEL ULK4 ENST00000301831 human ensembl 74_37 -1 known frame_shift_del c.1778 p.K593fs 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ULK4 HGNC ENSG00000168038 89 0 0 50 16 24.2424 CELSR3 0 genome.wustl.edu 37 3 48699377 48699377 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 48699377 48699377 G - DEL CELSR3 ENST00000544264 human ensembl 74_37 -1 known frame_shift_del c.691 p.R231fs 0.055 NULL 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 162 0 0 98 55 35.9477 BSN 0 genome.wustl.edu 37 3 49698680 49698680 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 49698680 49698680 C - DEL BSN ENST00000296452 human ensembl 74_37 +1 known frame_shift_del c.9402 p.A3136fs 0.131 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 95 0 0 84 23 21.4953 CAMKV 0 genome.wustl.edu 37 3 49896836 49896836 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 49896836 49896836 C - DEL CAMKV ENST00000477224 human ensembl 74_37 -1 known frame_shift_del c.1421 p.G474fs 0.815 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 CAMKV HGNC ENSG00000164076 113 0 0 66 36 35.2941 RBM6 0 genome.wustl.edu 37 3 50004794 50004794 + RNA DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 50004794 50004794 A - DEL RBM6 ENST00000488807 human ensembl 74_37 +1 putative rna NULL NULL 1.000 - - - no_errors RBM6 HGNC ENSG00000004534 9 0 0 13 9 40.9091 SEMA3B 0 genome.wustl.edu 37 3 50311902 50311902 + RNA DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 50311902 50311902 G - DEL SEMA3B ENST00000316347 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SEMA3B HGNC ENSG00000012171 210 0 0 127 46 26.5896 DOCK3 0 genome.wustl.edu 37 3 51417604 51417604 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 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 75 0 0 28 30 51.7241 DNAH1 0 genome.wustl.edu 37 3 52402772 52402774 + In_Frame_Del DEL CTC CTC - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 52402772 52402774 CTC - DEL DNAH1 ENST00000420323 human ensembl 74_37 +1 known in_frame_del c.5781_5783 p.S1929in_frame_del 0.679:0.036:0.218 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 256 0 0 125 57 31.3187 IL17RB 0 genome.wustl.edu 37 3 53898813 53898814 + Frame_Shift_Ins INS - - C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 53898813 53898814 - C INS IL17RB ENST00000288167 human ensembl 74_37 +1 known frame_shift_ins c.987_988 p.I331fs 0.159:0.158 NULL pfam_SEFIR - no_errors IL17RB HGNC ENSG00000056736 220 0 0 79 36 31.3043 DENND6A 0 genome.wustl.edu 37 3 57614576 57614578 + In_Frame_Del DEL CTA CTA - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 CTA CTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 57614576 57614578 CTA - DEL DENND6A ENST00000311128 human ensembl 74_37 -1 known in_frame_del c.1657_1655 p.V552in_frame_del 1.000:1.000:1.000 pfam_Afi1_N pfam_Afi1_N,pfam_ABL9/DENND6_dom,pfam_DENN_dom - no_errors DENND6A HGNC ENSG00000174839 103 0 0 36 21 36.8421 PTPRG 0 genome.wustl.edu 37 3 62253484 62253484 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 62253484 62253484 A - DEL PTPRG ENST00000474889 human ensembl 74_37 +1 known frame_shift_del c.2864 p.G957fs 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt 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 152 0 0 57 29 33.7209 PRICKLE2-AS3 0 genome.wustl.edu 37 3 64184686 64184686 + RNA DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 64184686 64184686 T - DEL PRICKLE2-AS3 ENST00000473434 human ensembl 74_37 +1 known rna NULL NULL 0.222 - - - no_errors PRICKLE2-AS3 HGNC ENSG00000226017 27 0 0 15 5 25 TTLL3 0 genome.wustl.edu 37 3 9859427 9859428 + Frame_Shift_Ins INS - - A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 3 9859427 9859428 - A INS TTLL3 ENST00000426895 human ensembl 74_37 +1 known frame_shift_ins c.843_844 p.A283fs 0.996:1.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL3 HGNC ENSG00000214021 120 0 0 72 28 28 MTTP 0 genome.wustl.edu 37 4 100496086 100496086 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 100496086 100496086 T - DEL MTTP ENST00000265517 human ensembl 74_37 +1 known frame_shift_del c.20 p.L9fs 1.000 NULL pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors MTTP HGNC ENSG00000138823 106 0 0 72 21 22.5806 LRIT3 0 genome.wustl.edu 37 4 110791079 110791080 + Frame_Shift_Ins INS - - C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 110791079 110791080 - C INS LRIT3 ENST00000594814 human ensembl 74_37 +1 known frame_shift_ins c.1174_1175 p.T394fs 0.000:0.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIT3 HGNC ENSG00000183423 113 0 0 64 28 30.4348 BBS7 0 genome.wustl.edu 37 4 122754483 122754483 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 122754483 122754483 A - DEL BBS7 ENST00000264499 human ensembl 74_37 -1 known frame_shift_del c.1579 p.C527fs 1.000 pirsf_Bardet-Biedl_syndrome_7_prot superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot - no_errors BBS7 HGNC ENSG00000138686 105 0 0 40 14 25.9259 FAT4 0 genome.wustl.edu 37 4 126239830 126239830 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 126239830 126239830 A - DEL FAT4 ENST00000394329 human ensembl 74_37 +1 known frame_shift_del c.2264 p.T757fs 1.000 pfam_Cadherin,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 118 0 0 70 6 7.89474 MGARP 0 genome.wustl.edu 37 4 140201256 140201256 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 140201256 140201256 G - DEL MGARP ENST00000398955 human ensembl 74_37 -1 known frame_shift_del c.57 p.N20fs 0.203 NULL NULL - no_errors MGARP HGNC ENSG00000137463 75 0 0 30 17 36.1702 NAA15 0 genome.wustl.edu 37 4 140264085 140264086 + Frame_Shift_Ins INS - - T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 140264085 140264086 - T INS NAA15 ENST00000296543 human ensembl 74_37 +1 known frame_shift_ins c.508_509 p.L171fs 1.000:1.000 pirsf_NatA_aux_su,pfscan_TPR-contain_dom pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA15 HGNC ENSG00000164134 54 0 0 26 12 31.5789 TBC1D9 0 genome.wustl.edu 37 4 141600843 141600843 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 141600843 141600843 T - DEL TBC1D9 ENST00000442267 human ensembl 74_37 -1 known frame_shift_del c.515 p.K172fs 1.000 pfam_GRAM,smart_GRAM 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 42 0 0 40 11 21.5686 ZNF827 0 genome.wustl.edu 37 4 146686852 146686853 + Frame_Shift_Ins INS - - G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 146686852 146686853 - G INS ZNF827 ENST00000508784 human ensembl 74_37 -1 known frame_shift_ins c.2899_2898 p.S966fs 1.000:0.994 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF827 HGNC ENSG00000151612 170 0 0 93 28 23.1405 POU4F2 0 genome.wustl.edu 37 4 147560292 147560294 + In_Frame_Del DEL GAT GAT - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 GAT GAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 147560292 147560294 GAT - DEL POU4F2 ENST00000281321 human ensembl 74_37 +1 known in_frame_del c.2_2 p.5in_frame_delMMM 1.000:1.000:1.000 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 POU4F2 HGNC ENSG00000151615 90 0 0 45 14 23.7288 FNIP2 0 genome.wustl.edu 37 4 159750300 159750302 + In_Frame_Del DEL AGC AGC - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 AGC AGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 159750300 159750302 AGC - DEL FNIP2 ENST00000379346 human ensembl 74_37 +1 known in_frame_del c.373_375 p.S128in_frame_del 0.175:0.191:0.191 NULL NULL - no_errors FNIP2 HGNC ENSG00000052795 26 0 0 20 7 25.9259 PROM1 0 genome.wustl.edu 37 4 15995680 15995680 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 15995680 15995680 T - DEL PROM1 ENST00000447510 human ensembl 74_37 -1 known frame_shift_del c.1697 p.N566fs 0.415 pfam_Prominin pfam_Prominin - no_errors PROM1 HGNC ENSG00000007062 111 1 0.892857 69 24 25.8065 GALNT7 0 genome.wustl.edu 37 4 174216904 174216904 + RNA DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 174216904 174216904 T - DEL GALNT7 ENST00000502407 human ensembl 74_37 +1 putative rna NULL NULL 1.000 - - - no_errors GALNT7 HGNC ENSG00000109586 51 0 0 29 15 34.0909 HPGD 0 genome.wustl.edu 37 4 175413228 175413228 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 175413228 175413228 T - DEL HPGD ENST00000296522 human ensembl 74_37 -1 known frame_shift_del c.680 p.N227fs 0.925 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_ADH_insect,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HPGD HGNC ENSG00000164120 178 0 0 83 8 8.79121 FAM193A 0 genome.wustl.edu 37 4 2698177 2698177 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 2698177 2698177 A - DEL FAM193A ENST00000324666 human ensembl 74_37 +1 known frame_shift_del c.2491 p.M833fs 0.997 NULL NULL - no_errors FAM193A HGNC ENSG00000125386 81 0 0 52 40 43.4783 RGS12 0 genome.wustl.edu 37 4 3432431 3432431 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 3432431 3432431 C - DEL RGS12 ENST00000344733 human ensembl 74_37 +1 known frame_shift_del c.3863 p.1292fs 0.000 NULL pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 20 0 0 14 10 41.6667 KCTD8 0 genome.wustl.edu 37 4 44176881 44176881 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 44176881 44176881 T - DEL KCTD8 ENST00000360029 human ensembl 74_37 -1 known frame_shift_del c.1348 p.I450fs 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD8 HGNC ENSG00000183783 151 0 0 105 9 7.89474 GABRG1 0 genome.wustl.edu 37 4 46060358 46060358 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 46060358 46060358 A - DEL GABRG1 ENST00000295452 human ensembl 74_37 -1 known frame_shift_del c.792 p.F264fs 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG1 HGNC ENSG00000163285 76 0 0 50 3 5.66038 MOB1B 0 genome.wustl.edu 37 4 71844994 71844995 + Frame_Shift_Ins INS - - T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 71844994 71844995 - T INS MOB1B ENST00000309395 human ensembl 74_37 +1 known frame_shift_ins c.559_560 p.V190fs 1.000:1.000 pfam_Mob1_phocein,superfamily_Mob1_phocein pfam_Mob1_phocein,superfamily_Mob1_phocein - no_errors MOB1B HGNC ENSG00000173542 125 0 0 78 9 10.3448 NKX6-1 0 genome.wustl.edu 37 4 85419121 85419122 + Frame_Shift_Ins INS - - G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 85419121 85419122 - G INS NKX6-1 ENST00000295886 human ensembl 74_37 -1 known frame_shift_ins c.261_260 p.Q88fs 0.998:1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors NKX6-1 HGNC ENSG00000163623 14 0 0 15 4 21.0526 HERC6 0 genome.wustl.edu 37 4 89349778 89349778 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 4 89349778 89349778 A - DEL HERC6 ENST00000264346 human ensembl 74_37 +1 known frame_shift_del c.1982 p.K663fs 0.001 superfamily_HECT pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC6 HGNC ENSG00000138642 24 0 0 23 6 20.6897 FER 0 genome.wustl.edu 37 5 108290522 108290522 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 108290522 108290522 A - DEL FER ENST00000281092 human ensembl 74_37 +1 known frame_shift_del c.1422 p.K476fs 0.994 pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_SH2,smart_SH2,pfscan_SH2 pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_FCH_dom,superfamily_Kinase-like_dom,smart_FCH_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH_dom,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors FER HGNC ENSG00000151422 98 0 0 45 24 34.7826 RAD50 0 genome.wustl.edu 37 5 131931451 131931452 + Frame_Shift_Ins INS - - A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 131931451 131931452 - A INS RAD50 ENST00000265335 human ensembl 74_37 +1 known frame_shift_ins c.2156_2157 p.K723fs 1.000:0.997 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 116 0 0 33 21 38.8889 AFF4 0 genome.wustl.edu 37 5 132232258 132232258 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 132232258 132232258 A - DEL AFF4 ENST00000265343 human ensembl 74_37 -1 known frame_shift_del c.2064 p.R689fs 0.994 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF4 HGNC ENSG00000072364 146 0 0 74 14 15.9091 UBE2B 0 genome.wustl.edu 37 5 133707248 133707248 + RNA DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 133707248 133707248 T - DEL UBE2B ENST00000511807 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors UBE2B HGNC ENSG00000119048 36 0 0 11 17 60.7143 EGR1 0 genome.wustl.edu 37 5 137802677 137802682 + In_Frame_Del DEL CCTCCG CCTCCG - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 CCTCCG CCTCCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 137802677 137802682 CCTCCG - DEL EGR1 ENST00000239938 human ensembl 74_37 +1 known in_frame_del c.539_544 p.AS184in_frame_del 1.000:0.824:0.988:0.993:0.303:0.993 pfam_DUF3446 pfam_DUF3432,pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR1 HGNC ENSG00000120738 313 0 0 183 63 25.6098 PSD2 0 genome.wustl.edu 37 5 139193288 139193288 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 139193288 139193288 G - DEL PSD2 ENST00000274710 human ensembl 74_37 +1 known frame_shift_del c.766 p.D258fs 0.076 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD2 HGNC ENSG00000146005 31 0 0 28 11 28.2051 SLC25A2 0 genome.wustl.edu 37 5 140682547 140682549 + In_Frame_Del DEL TCA TCA - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 TCA TCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 140682547 140682549 TCA - DEL SLC25A2 ENST00000239451 human ensembl 74_37 -1 known in_frame_del c.886_884 p.M295in_frame_del 0.755:1.000:1.000 pfam_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A2 HGNC ENSG00000120329 59 0 0 41 4 8.88889 TRIO 0 genome.wustl.edu 37 5 14488155 14488156 + Frame_Shift_Ins INS - - CC TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 14488155 14488156 - CC INS TRIO ENST00000344204 human ensembl 74_37 +1 known frame_shift_ins c.7418_7419 p.S2476fs 0.023:0.021 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 40 0 0 11 4 26.6667 TCERG1 0 genome.wustl.edu 37 5 145883505 145883506 + Frame_Shift_Del DEL GA GA - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 145883505 145883506 GA - DEL TCERG1 ENST00000296702 human ensembl 74_37 +1 known frame_shift_del c.2666_2667 p.E892fs 1.000:0.891 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 TCERG1 HGNC ENSG00000113649 91 0 0 80 12 13.0435 ZNF300P1 0 genome.wustl.edu 37 5 150310723 150310723 + RNA DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 150310723 150310723 T - DEL ZNF300P1 ENST00000520773 human ensembl 74_37 -1 known rna NULL NULL 0.111 - - - no_errors ZNF300P1 HGNC ENSG00000197083 20 0 0 27 6 18.1818 EBF1 0 genome.wustl.edu 37 5 158526597 158526597 + RNA DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 158526597 158526597 T - DEL EBF1 ENST00000518836 human ensembl 74_37 -1 known rna NULL NULL 0.941 - - - no_errors EBF1 HGNC ENSG00000164330 19 0 0 9 9 50 CREBRF 0 genome.wustl.edu 37 5 172517887 172517887 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 172517887 172517887 A - DEL CREBRF ENST00000540014 human ensembl 74_37 +1 known frame_shift_del c.705 p.K237fs 0.141 NULL NULL - no_errors CREBRF HGNC ENSG00000164463 74 0 0 32 25 43.8596 LOC101928649 0 genome.wustl.edu 37 5 180684515 180684516 + RNA INS - - T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 180684515 180684516 - T INS LOC101928649 ENST00000417281 human ensembl 74_37 +1 known rna NULL NULL 0.030:0.042 - - - no_errors CTC-338M12.4 Clone_based_vega_gene ENSG00000233937 42 0 0 18 5 21.7391 CDH6 0 genome.wustl.edu 37 5 31322962 31322962 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 31322962 31322962 A - DEL CDH6 ENST00000265071 human ensembl 74_37 +1 known frame_shift_del c.1920 p.E643fs 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH6 HGNC ENSG00000113361 97 0 0 53 27 33.75 ZFR 0 genome.wustl.edu 37 5 32404161 32404161 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 32404161 32404161 T - DEL ZFR ENST00000265069 human ensembl 74_37 -1 known frame_shift_del c.1074 p.E359fs 1.000 smart_Znf_U1 pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR HGNC ENSG00000056097 102 0 0 55 29 34.5238 SPEF2 0 genome.wustl.edu 37 5 35705894 35705894 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 35705894 35705894 A - DEL SPEF2 ENST00000356031 human ensembl 74_37 +1 known frame_shift_del c.2649 p.K886fs 0.129 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 24 0 0 7 5 41.6667 RICTOR 0 genome.wustl.edu 37 5 38954826 38954826 + RNA DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 38954826 38954826 T - DEL RICTOR ENST00000503698 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RICTOR HGNC ENSG00000164327 43 0 0 18 6 25 C6 0 genome.wustl.edu 37 5 41181560 41181560 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 41181560 41181560 C - DEL C6 ENST00000263413 human ensembl 74_37 -1 known frame_shift_del c.828 p.S277fs 0.000 NULL pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal_dom,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt - no_errors C6 HGNC ENSG00000039537 74 0 0 28 13 31.7073 FBXO4 0 genome.wustl.edu 37 5 41929871 41929871 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 41929871 41929871 T - DEL FBXO4 ENST00000281623 human ensembl 74_37 +1 known frame_shift_del c.498 p.L168fs 0.899 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO4 HGNC ENSG00000151876 150 1 0.662252 76 38 33.3333 ADAMTS16 0 genome.wustl.edu 37 5 5306781 5306781 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 5306781 5306781 C - DEL ADAMTS16 ENST00000274181 human ensembl 74_37 +1 known frame_shift_del c.3351 p.P1119fs 0.000 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 47 0 0 31 8 20.5128 GPX8 0 genome.wustl.edu 37 5 54460113 54460113 + RNA DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 54460113 54460113 T - DEL GPX8 ENST00000506123 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GPX8 HGNC ENSG00000164294 20 0 0 6 6 50 ACTBL2 0 genome.wustl.edu 37 5 56778406 56778407 + Frame_Shift_Ins INS - - C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 56778406 56778407 - C INS ACTBL2 ENST00000423391 human ensembl 74_37 -1 known frame_shift_ins c.129_128 p.V44fs 0.988:1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTBL2 HGNC ENSG00000169067 46 0 0 32 19 37.2549 PLK2 0 genome.wustl.edu 37 5 57753012 57753012 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 57753012 57753012 A - DEL PLK2 ENST00000274289 human ensembl 74_37 -1 known frame_shift_del c.1004 p.L335fs 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK2 HGNC ENSG00000145632 48 0 0 34 11 24.4444 GCNT4 0 genome.wustl.edu 37 5 74324982 74324983 + Frame_Shift_Ins INS - - G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 74324982 74324983 - G INS GCNT4 ENST00000322348 human ensembl 74_37 -1 known frame_shift_ins c.881_880 p.H294fs 0.920:0.913 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT4 HGNC ENSG00000176928 81 0 0 41 13 24.0741 EDIL3 0 genome.wustl.edu 37 5 83360606 83360607 + Frame_Shift_Ins INS - - G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 83360606 83360607 - G INS EDIL3 ENST00000296591 human ensembl 74_37 -1 known frame_shift_ins c.865_864 p.I288fs 0.998:0.618 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors EDIL3 HGNC ENSG00000164176 89 0 0 50 20 28.5714 CETN3 0 genome.wustl.edu 37 5 89701581 89701581 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 89701581 89701581 T - DEL CETN3 ENST00000283122 human ensembl 74_37 -1 known frame_shift_del c.189 p.A64fs 1.000 pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CETN3 HGNC ENSG00000153140 92 0 0 38 8 17.3913 MCTP1 0 genome.wustl.edu 37 5 94620067 94620067 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 94620067 94620067 C - DEL MCTP1 ENST00000515393 human ensembl 74_37 -1 known frame_shift_del c.213 p.S72fs 0.000 NULL pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_C2_dom - no_errors MCTP1 HGNC ENSG00000175471 28 0 0 18 14 43.75 CAST 0 genome.wustl.edu 37 5 96065370 96065370 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 5 96065370 96065370 A - DEL CAST ENST00000395813 human ensembl 74_37 +1 known frame_shift_del c.490 p.A166fs 0.735 NULL pfam_Prot_inh_calpain - no_errors CAST HGNC ENSG00000153113 77 0 0 20 4 16.6667 KIAA1919 0 genome.wustl.edu 37 6 111587480 111587480 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 111587480 111587480 T - DEL KIAA1919 ENST00000368847 human ensembl 74_37 +1 known frame_shift_del c.715 p.Y241fs 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors KIAA1919 HGNC ENSG00000173214 49 0 0 41 17 29.3103 REV3L 0 genome.wustl.edu 37 6 111726819 111726819 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 111726819 111726819 A - DEL REV3L ENST00000358835 human ensembl 74_37 -1 known frame_shift_del c.419 p.L140fs 1.000 pfam_DNA-dir_DNA_pol_B_exonuc,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 124 0 0 54 26 32.5 HIVEP1 0 genome.wustl.edu 37 6 12164369 12164370 + Frame_Shift_Ins INS - - A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 12164369 12164370 - A INS HIVEP1 ENST00000379388 human ensembl 74_37 +1 known frame_shift_ins c.7832_7833 p.V2614fs 0.000:0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 86 0 0 46 30 39.4737 SAMD3 0 genome.wustl.edu 37 6 130467187 130467188 + Frame_Shift_Ins INS - - T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 130467187 130467188 - T INS SAMD3 ENST00000368134 human ensembl 74_37 -1 known frame_shift_ins c.1163_1162 p.M388fs 1.000:0.980 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD3 HGNC ENSG00000164483 52 0 0 29 13 30.9524 AKAP7 0 genome.wustl.edu 37 6 131481276 131481276 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 131481276 131481276 A - DEL AKAP7 ENST00000368123 human ensembl 74_37 +1 known frame_shift_del c.163 p.K57fs 0.449 pfam_Kinase-A_anchor_nucl_local_sig pfam_Kinase-A_anchor_nucl_local_sig,pfam_Kinase-A_anchor_RI-RII-bd_dom,superfamily_RNA_ligase/cNuc_Pdiesterase - no_errors AKAP7 HGNC ENSG00000118507 79 0 0 25 14 35.8974 MED23 0 genome.wustl.edu 37 6 131919846 131919846 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 131919846 131919846 T - DEL MED23 ENST00000368058 human ensembl 74_37 -1 known frame_shift_del c.2294 p.N765fs 1.000 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC ENSG00000112282 108 0 0 65 24 26.9663 SIRT5 0 genome.wustl.edu 37 6 13588582 13588583 + Frame_Shift_Ins INS - - T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 13588582 13588583 - T INS SIRT5 ENST00000606117 human ensembl 74_37 +1 known frame_shift_ins c.135_136 p.A47fs 0.016:0.000 pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT5 HGNC ENSG00000124523 110 1 0.900901 39 24 38.0952 SHPRH 0 genome.wustl.edu 37 6 146264833 146264834 + In_Frame_Ins INS - - ATC TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 146264833 146264834 - ATC INS SHPRH ENST00000367503 human ensembl 74_37 -1 known in_frame_ins c.1684_1683 p.561in_frame_insD 0.742:0.156 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd pfam_SNF2_N,pfam_Histone_H1/H5_H15,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,superfamily_WW_dom,smart_Helicase_ATP-bd,smart_Histone_H1/H5_H15,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C - no_errors SHPRH HGNC ENSG00000146414 95 0 0 69 25 26.5957 IGF2R 0 genome.wustl.edu 37 6 160485488 160485488 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 160485488 160485488 G - DEL IGF2R ENST00000356956 human ensembl 74_37 +1 known frame_shift_del c.3942 p.D1317fs 0.125 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 217 0 0 161 58 26.484 GPLD1 0 genome.wustl.edu 37 6 24436940 24436941 + Frame_Shift_Ins INS - - G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 24436940 24436941 - G INS GPLD1 ENST00000230036 human ensembl 74_37 -1 known frame_shift_ins c.2222_2221 p.L741fs 1.000:0.976 smart_Int_alpha_beta-p,prints_Gprt_PLipase_D pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Gprt_PLipase_D - no_errors GPLD1 HGNC ENSG00000112293 103 0 0 51 12 19.0476 BTN3A1 0 genome.wustl.edu 37 6 26413605 26413605 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 26413605 26413605 A - DEL BTN3A1 ENST00000289361 human ensembl 74_37 +1 known frame_shift_del c.1227 p.I409fs 0.009 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTN3A1 HGNC ENSG00000026950 141 0 0 69 54 43.9024 PRSS16 0 genome.wustl.edu 37 6 27218823 27218823 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 27218823 27218823 C - DEL PRSS16 ENST00000230582 human ensembl 74_37 +1 known frame_shift_del c.594 p.H200fs 0.997 pfam_Peptidase_S28 pfam_Peptidase_S28 - no_errors PRSS16 HGNC ENSG00000112812 173 0 0 99 25 20.1613 MYLK4 0 genome.wustl.edu 37 6 2749454 2749454 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 2749454 2749454 A - DEL MYLK4 ENST00000268446 human ensembl 74_37 -1 known frame_shift_del c.75 p.Q26fs 0.985 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 MYLK4 HGNC ENSG00000145949 168 0 0 92 34 26.9841 HLA-A 0 genome.wustl.edu 37 6 29910371 29910372 + Frame_Shift_Ins INS - - G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 29910371 29910372 - G INS HLA-A ENST00000376806 human ensembl 74_37 +1 known frame_shift_ins c.41_42 p.A16fs 0.000:0.000 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-A HGNC ENSG00000206503 81 0 0 61 12 16.4384 HLA-J 0 genome.wustl.edu 37 6 29975967 29975967 + RNA DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 29975967 29975967 C - DEL HLA-J ENST00000462773 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors HLA-J HGNC ENSG00000204622 19 0 0 21 6 22.2222 NFKBIL1 0 genome.wustl.edu 37 6 31515484 31515485 + Frame_Shift_Ins INS - - C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 31515484 31515485 - C INS NFKBIL1 ENST00000376148 human ensembl 74_37 +1 known frame_shift_ins c.13_14 p.Q7fs 1.000:1.000 NULL superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors NFKBIL1 HGNC ENSG00000204498 37 0 0 19 5 20.8333 ATF6B 0 genome.wustl.edu 37 6 32095989 32095989 + RNA DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 32095989 32095989 C - DEL ATF6B ENST00000468502 human ensembl 74_37 -1 known rna NULL NULL 0.565 - - - no_errors ATF6B HGNC ENSG00000213676 42 0 0 26 16 38.0952 FKBPL 0 genome.wustl.edu 37 6 32097085 32097086 + Frame_Shift_Ins INS - - C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 32097085 32097086 - C INS FKBPL ENST00000375156 human ensembl 74_37 -1 known frame_shift_ins c.473_472 p.E158fs 0.952:0.986 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors FKBPL HGNC ENSG00000204315 444 0 0 394 27 6.4133 STK38 0 genome.wustl.edu 37 6 36465582 36465583 + Frame_Shift_Ins INS - - A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 36465582 36465583 - A INS STK38 ENST00000229812 human ensembl 74_37 -1 known frame_shift_ins c.1147_1146 p.E382fs 1.000:1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors STK38 HGNC ENSG00000112079 84 0 0 39 17 30.3571 C6orf89 0 genome.wustl.edu 37 6 36867370 36867371 + Frame_Shift_Ins INS - - C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 36867370 36867371 - C INS C6orf89 ENST00000355190 human ensembl 74_37 +1 known frame_shift_ins c.171_172 p.Q60fs 0.997:0.991 NULL NULL - no_errors C6orf89 HGNC ENSG00000198663 87 0 0 52 12 18.75 RUNX2 0 genome.wustl.edu 37 6 45296446 45296446 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 45296446 45296446 A - DEL RUNX2 ENST00000352853 human ensembl 74_37 +1 known frame_shift_del c.187 p.G66fs 0.983 NULL pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pfscan_Runt_dom,prints_AML1_Runt - no_errors RUNX2 HGNC ENSG00000124813 62 0 0 50 22 30.5556 DST 0 genome.wustl.edu 37 6 56468020 56468021 + Frame_Shift_Ins INS - - A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 56468020 56468021 - A INS DST ENST00000370754 human ensembl 74_37 -1 known frame_shift_ins c.11041_11040 p.A3680fs 0.009:0.000 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 17 0 0 10 7 41.1765 PHF3 0 genome.wustl.edu 37 6 64415953 64415953 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 64415953 64415953 A - DEL PHF3 ENST00000262043 human ensembl 74_37 +1 known frame_shift_del c.3402 p.V1137fs 0.986 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors PHF3 HGNC ENSG00000118482 47 0 0 27 5 15.625 BAI3 0 genome.wustl.edu 37 6 69349020 69349020 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 69349020 69349020 T - DEL BAI3 ENST00000370598 human ensembl 74_37 +1 known frame_shift_del c.453 p.F153fs 0.998 pfscan_CUB_dom 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 100 0 0 53 36 40.4494 FAM135A 0 genome.wustl.edu 37 6 71269576 71269577 + Frame_Shift_Ins INS - - T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 71269576 71269577 - T INS FAM135A ENST00000418814 human ensembl 74_37 +1 known frame_shift_ins c.4500_4501 p.L1501fs 1.000:1.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase - no_errors FAM135A HGNC ENSG00000082269 38 0 0 18 13 41.9355 SENP6 0 genome.wustl.edu 37 6 76369099 76369099 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 76369099 76369099 A - DEL SENP6 ENST00000370014 human ensembl 74_37 +1 known frame_shift_del c.672 p.K226fs 1.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP6 HGNC ENSG00000112701 28 0 0 28 11 28.2051 TTK 0 genome.wustl.edu 37 6 80751897 80751897 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 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 85 0 0 38 22 36.6667 KIAA1009 0 genome.wustl.edu 37 6 84862599 84862600 + Frame_Shift_Ins INS - - T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 84862599 84862600 - T INS KIAA1009 ENST00000403245 human ensembl 74_37 -1 known frame_shift_ins c.3294_3293 p.R1099fs 0.003:0.003 NULL NULL - no_errors KIAA1009 HGNC ENSG00000135315 65 0 0 21 19 47.5 MAP3K7 0 genome.wustl.edu 37 6 91226169 91226170 + RNA INS - - A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 91226169 91226170 - A INS MAP3K7 ENST00000479630 human ensembl 74_37 -1 known rna NULL NULL 0.999:0.947 - - - no_errors MAP3K7 HGNC ENSG00000135341 45 0 0 23 10 30.303 MMS22L 0 genome.wustl.edu 37 6 97620979 97620979 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 97620979 97620979 T - DEL MMS22L ENST00000275053 human ensembl 74_37 -1 known frame_shift_del c.2799 p.V934fs 0.937 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MMS22L HGNC ENSG00000146263 78 0 0 45 22 32.8358 PNISR 0 genome.wustl.edu 37 6 99849343 99849343 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 6 99849343 99849343 T - DEL PNISR ENST00000369239 human ensembl 74_37 -1 known frame_shift_del c.1491 p.E498fs 1.000 NULL NULL - no_errors PNISR HGNC ENSG00000132424 38 0 0 39 5 11.3636 TRIP6 0 genome.wustl.edu 37 7 100465746 100465746 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 100465746 100465746 G - DEL TRIP6 ENST00000200457 human ensembl 74_37 +1 known frame_shift_del c.254 p.G87fs 0.344 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors TRIP6 HGNC ENSG00000087077 118 1 0.840336 54 22 28.9474 SRRT 0 genome.wustl.edu 37 7 100479332 100479332 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 100479332 100479332 G - DEL SRRT ENST00000388793 human ensembl 74_37 +1 known frame_shift_del c.304 p.G104fs 1.000 NULL pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ENSG00000087087 66 0 0 34 18 34.6154 POLR2J 0 genome.wustl.edu 37 7 102114785 102114786 + Frame_Shift_Ins INS - - C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 102114785 102114786 - C INS POLR2J ENST00000393794 human ensembl 74_37 -1 known frame_shift_ins c.341_340 p.A114fs 0.000:0.000 superfamily_RBP11-like_dimer pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer - no_errors POLR2J HGNC ENSG00000005075 115 0 0 94 19 16.8142 GPR85 0 genome.wustl.edu 37 7 112723847 112723847 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 112723847 112723847 A - DEL GPR85 ENST00000297146 human ensembl 74_37 -1 known frame_shift_del c.930 p.F310fs 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR85 HGNC ENSG00000164604 82 0 0 41 25 37.8788 FSCN3 0 genome.wustl.edu 37 7 127235626 127235626 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 127235626 127235626 C - DEL FSCN3 ENST00000265825 human ensembl 74_37 +1 known frame_shift_del c.410 p.R139fs 0.985 superfamily_Actin_cross-linking pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FSCN3 HGNC ENSG00000106328 80 0 0 91 6 6.18557 TNPO3 0 genome.wustl.edu 37 7 128658127 128658127 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 128658127 128658127 T - DEL TNPO3 ENST00000393245 human ensembl 74_37 -1 known frame_shift_del c.205 p.M69fs 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold - no_errors TNPO3 HGNC ENSG00000064419 90 0 0 40 18 31.0345 PTN 0 genome.wustl.edu 37 7 136938377 136938377 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 136938377 136938377 T - DEL PTN ENST00000348225 human ensembl 74_37 -1 known frame_shift_del c.123 p.V42fs 1.000 pfam_PTN/MK_N_dom,superfamily_PTN/MK_diS pfam_PTN/MK_C_dom,pfam_PTN/MK_N_dom,superfamily_PTN/MK_diS,smart_Midkine_heparin-bd_GF,prints_Midkine_heparin-bd_GF - no_errors PTN HGNC ENSG00000105894 27 0 0 16 8 33.3333 EPHA1 0 genome.wustl.edu 37 7 143096420 143096420 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 143096420 143096420 C - DEL EPHA1 ENST00000275815 human ensembl 74_37 -1 known frame_shift_del c.922 p.A308fs 0.045 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Growth_fac_rcpt_N_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA1 HGNC ENSG00000146904 71 0 0 41 32 43.8356 TPK1 0 genome.wustl.edu 37 7 144463016 144463018 + In_Frame_Del DEL AAG AAG - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 144463016 144463018 AAG - DEL TPK1 ENST00000360057 human ensembl 74_37 -1 known in_frame_del c.72_70 p.L24in_frame_del 0.993:1.000:1.000 superfamily_TPK_catalytic,pirsf_Thiamin_pyrophosphokinase_euk,tigrfam_Thi_PPkinase pfam_TPK_catalytic,pfam_Thiamin_PyroPKinase_B1-bd,superfamily_TPK_catalytic,superfamily_Thiamin_PyroPKinase_B1-bd,pirsf_Thiamin_pyrophosphokinase_euk,tigrfam_Thi_PPkinase - no_errors TPK1 HGNC ENSG00000196511 135 0 0 45 23 33.8235 ZNF786 0 genome.wustl.edu 37 7 148767912 148767912 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 148767912 148767912 C - DEL ZNF786 ENST00000491431 human ensembl 74_37 -1 known frame_shift_del c.1952 p.C651fs 0.860 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 ZNF786 HGNC ENSG00000197362 101 0 0 52 39 42.8571 ZNF746 0 genome.wustl.edu 37 7 149172551 149172551 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 149172551 149172551 T - DEL ZNF746 ENST00000458143 human ensembl 74_37 -1 known frame_shift_del c.862 p.T288fs 1.000 NULL pfam_Znf_C2H2,pfam_DUF3669_Znf,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 ZNF746 HGNC ENSG00000181220 149 0 0 69 46 40 CHPF2 0 genome.wustl.edu 37 7 150935382 150935383 + Frame_Shift_Ins INS - - C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 150935382 150935383 - C INS CHPF2 ENST00000035307 human ensembl 74_37 +1 known frame_shift_ins c.1934_1935 p.S648fs 1.000:0.983 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHPF2 HGNC ENSG00000033100 60 0 0 25 10 28.5714 XRCC2 0 genome.wustl.edu 37 7 152346219 152346220 + Frame_Shift_Ins INS - - A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 152346219 152346220 - A INS XRCC2 ENST00000359321 human ensembl 74_37 -1 known frame_shift_ins c.351_350 p.L117fs 0.696:0.703 pfam_DNA_recomb/repair_Rad51_C,superfamily_P-loop_NTPase,pfscan_DNA_recomb_RecA/RadB_ATP-bd pfam_DNA_recomb/repair_Rad51_C,superfamily_P-loop_NTPase,pfscan_DNA_recomb_RecA/RadB_ATP-bd - no_errors XRCC2 HGNC ENSG00000196584 92 0 0 48 31 39.2405 DNAH11 0 genome.wustl.edu 37 7 21805081 21805082 + Frame_Shift_Del DEL GA GA - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 21805081 21805082 GA - DEL DNAH11 ENST00000328843 human ensembl 74_37 +1 known frame_shift_del c.8997_8998 p.R3000fs 0.995:0.992 superfamily_P-loop_NTPase 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 DNAH11 HGNC ENSG00000105877 196 0 0 85 44 34.1085 CCDC126 0 genome.wustl.edu 37 7 23650855 23650855 + RNA DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 23650855 23650855 T - DEL CCDC126 ENST00000486109 human ensembl 74_37 +1 putative rna NULL NULL 0.020 - - - no_errors CCDC126 HGNC ENSG00000169193 24 0 0 9 14 60.8696 CBX3 0 genome.wustl.edu 37 7 26245997 26245998 + Frame_Shift_Ins INS - - A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 26245997 26245998 - A INS CBX3 ENST00000337620 human ensembl 74_37 +1 known frame_shift_ins c.34_35 p.G12fs 1.000:1.000 NULL pfam_Chromo_shadow_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Chromo_shadow_dom,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX3 HGNC ENSG00000122565 47 0 0 41 5 10.8696 AVL9 0 genome.wustl.edu 37 7 32584334 32584334 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 32584334 32584334 A - DEL AVL9 ENST00000404479 human ensembl 74_37 +1 known frame_shift_del c.243 p.N82fs 1.000 pfam_ABL9/DENND6_dom,pfam_DUF2347 pfam_ABL9/DENND6_dom,pfam_DUF2347 - no_errors AVL9 HGNC ENSG00000105778 46 0 0 24 3 11.1111 INHBA 0 genome.wustl.edu 37 7 41729727 41729727 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 41729727 41729727 C - DEL INHBA ENST00000242208 human ensembl 74_37 -1 known frame_shift_del c.802 p.E268fs 0.981 pfam_TGF-b_N,prints_Inhibin_betaA pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu - no_errors INHBA HGNC ENSG00000122641 45 0 0 48 24 33.3333 RADIL 0 genome.wustl.edu 37 7 4841483 4841484 + Frame_Shift_Ins INS - - G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 4841483 4841484 - G INS RADIL ENST00000399583 human ensembl 74_37 -1 known frame_shift_ins c.2643_2642 p.G882fs 0.000:0.001 NULL pfam_Dil_domain,pfam_Ras-assoc,pfam_PDZ,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors RADIL HGNC ENSG00000157927 12 0 0 13 5 27.7778 ACTB 0 genome.wustl.edu 37 7 5568907 5568915 + In_Frame_Del DEL TCCATGTCG TCCATGTCG - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 TCCATGTCG TCCATGTCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 5568907 5568915 TCCATGTCG - DEL ACTB ENST00000331789 human ensembl 74_37 -1 known in_frame_del c.248_240 p.DDM80in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.997 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTB HGNC ENSG00000075624 105 0 0 86 37 30.0813 EIF2AK1 0 genome.wustl.edu 37 7 6085740 6085740 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 6085740 6085740 T - DEL EIF2AK1 ENST00000199389 human ensembl 74_37 -1 known frame_shift_del c.592 p.I198fs 1.000 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 EIF2AK1 HGNC ENSG00000086232 40 0 0 19 2 9.52381 SAMD9L 0 genome.wustl.edu 37 7 92764982 92764982 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 7 92764982 92764982 C - DEL SAMD9L ENST00000318238 human ensembl 74_37 -1 known frame_shift_del c.303 p.N103fs 0.000 NULL superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 131 0 0 85 28 24.7788 VPS13B 0 genome.wustl.edu 37 8 100050671 100050671 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 100050671 100050671 T - DEL VPS13B ENST00000358544 human ensembl 74_37 +1 known frame_shift_del c.168 p.L58fs 0.024 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 29 0 0 30 12 28.5714 RGS22 0 genome.wustl.edu 37 8 100990176 100990176 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 100990176 100990176 A - DEL RGS22 ENST00000360863 human ensembl 74_37 -1 known frame_shift_del c.3488 p.L1163fs 0.000 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam - no_errors RGS22 HGNC ENSG00000132554 61 0 0 55 10 15.3846 RNF19A 0 genome.wustl.edu 37 8 101300216 101300216 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 101300216 101300216 T - DEL RNF19A ENST00000341084 human ensembl 74_37 -1 known frame_shift_del c.187 p.R63fs 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF19A HGNC ENSG00000034677 85 0 0 68 24 26.087 UBR5 0 genome.wustl.edu 37 8 103289349 103289349 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 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 127 0 0 94 42 30.8824 CSMD3 0 genome.wustl.edu 37 8 113241029 113241029 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 113241029 113241029 A - DEL CSMD3 ENST00000297405 human ensembl 74_37 -1 known frame_shift_del c.10920 p.F3640fs 1.000 NULL pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 84 0 0 75 17 18.4783 SLC30A8 0 genome.wustl.edu 37 8 118183315 118183315 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 118183315 118183315 T - DEL SLC30A8 ENST00000456015 human ensembl 74_37 +1 known frame_shift_del c.872 p.L292fs 0.049 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A8 HGNC ENSG00000164756 134 0 0 128 7 5.18519 DEFB135 0 genome.wustl.edu 37 8 11842012 11842012 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 11842012 11842012 A - DEL DEFB135 ENST00000382208 human ensembl 74_37 +1 known frame_shift_del c.147 p.N51fs 0.000 NULL NULL - no_errors DEFB135 HGNC ENSG00000205883 97 0 0 32 25 43.8596 SQLE 0 genome.wustl.edu 37 8 126011893 126011893 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 126011893 126011893 C - DEL SQLE ENST00000265896 human ensembl 74_37 +1 known frame_shift_del c.248 p.P85fs 0.028 NULL pfam_Squalene_epoxidase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_Rng_hydrolase-like - no_errors SQLE HGNC ENSG00000104549 47 0 0 66 12 15.3846 POU5F1B 0 genome.wustl.edu 37 8 128428462 128428462 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 128428462 128428462 C - DEL POU5F1B ENST00000391675 human ensembl 74_37 +1 known frame_shift_del c.351 p.P119fs 0.000 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 45 0 0 60 13 17.8082 PTK2 0 genome.wustl.edu 37 8 141754889 141754890 + RNA DEL AA AA - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 141754889 141754890 AA - DEL PTK2 ENST00000518509 human ensembl 74_37 -1 known rna NULL NULL 0.003:0.004 - - - no_errors PTK2 HGNC ENSG00000169398 34 0 0 11 9 45 ZC3H3 0 genome.wustl.edu 37 8 144621235 144621235 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 144621235 144621235 C - DEL ZC3H3 ENST00000262577 human ensembl 74_37 -1 known frame_shift_del c.302 p.G101fs 0.073 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H3 HGNC ENSG00000014164 157 0 0 196 32 14.0351 EPPK1 0 genome.wustl.edu 37 8 144941378 144941378 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 144941378 144941378 C - DEL EPPK1 ENST00000525985 human ensembl 74_37 -1 known frame_shift_del c.6044 p.G2015fs 0.996 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 55 0 0 64 20 23.8095 DGAT1 0 genome.wustl.edu 37 8 145541487 145541488 + Splice_Site INS - - G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 145541487 145541488 - G INS DGAT1 ENST00000332324 human ensembl 74_37 -1 known splice_site_ins c.856-3_856-2 e10-2 0.999:0.543 - - - no_errors DGAT1 HGNC ENSG00000185000 24 0 0 37 7 15.9091 ADCK5 0 genome.wustl.edu 37 8 145616391 145616391 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 145616391 145616391 T - DEL ADCK5 ENST00000308860 human ensembl 74_37 +1 known frame_shift_del c.601 p.F201fs 1.000 pfam_UbiB_dom,superfamily_Kinase-like_dom pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK5 HGNC ENSG00000173137 94 0 0 175 18 9.32642 ARHGAP39 0 genome.wustl.edu 37 8 145773476 145773476 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 145773476 145773476 C - DEL ARHGAP39 ENST00000377307 human ensembl 74_37 -1 known frame_shift_del c.994 p.V332fs 1.000 NULL pfam_RhoGAP_dom,pfam_MyTH4_dom,superfamily_Rho_GTPase_activation_prot,superfamily_WW_dom,smart_WW_dom,smart_MyTH4_dom,smart_RhoGAP_dom,pfscan_MyTH4_dom,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP39 HGNC ENSG00000147799 115 0 0 95 20 17.3913 ZNF517 0 genome.wustl.edu 37 8 146029087 146029087 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 146029087 146029087 C - DEL ZNF517 ENST00000359971 human ensembl 74_37 +1 known frame_shift_del c.95 p.D34fs 0.010 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_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 ZNF517 HGNC ENSG00000197363 132 0 0 170 21 10.9948 MTUS1 0 genome.wustl.edu 37 8 17504627 17504627 + RNA DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 17504627 17504627 A - DEL MTUS1 ENST00000518889 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors MTUS1 HGNC ENSG00000129422 34 0 0 15 16 51.6129 CSGALNACT1 0 genome.wustl.edu 37 8 19363162 19363163 + Frame_Shift_Ins INS - - A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 19363162 19363163 - A INS CSGALNACT1 ENST00000311540 human ensembl 74_37 -1 known frame_shift_ins c.184_183 p.Q61fs 1.000:0.998 NULL pfam_Chond_GalNAc - no_errors CSGALNACT1 HGNC ENSG00000147408 66 0 0 35 23 39.6552 CCAR2 0 genome.wustl.edu 37 8 22472975 22472975 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 22472975 22472975 C - DEL CCAR2 ENST00000308511 human ensembl 74_37 +1 known frame_shift_del c.1243 p.R417fs 1.000 NULL superfamily_NA-bd_OB-fold - no_errors CCAR2 HGNC ENSG00000158941 197 1 0.505051 139 59 29.798 ATP6V1H 0 genome.wustl.edu 37 8 54742095 54742096 + Splice_Site INS - - A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 54742095 54742096 - A INS ATP6V1H ENST00000359530 human ensembl 74_37 -1 known splice_site_ins c.217-3_217-2 e3-2 0.998:0.112 - - - no_errors ATP6V1H HGNC ENSG00000047249 55 0 0 26 3 10.3448 MYBL1 0 genome.wustl.edu 37 8 67488452 67488453 + Frame_Shift_Ins INS - - T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 67488452 67488453 - T INS MYBL1 ENST00000522677 human ensembl 74_37 -1 known frame_shift_ins c.1260_1259 p.N420fs 0.967:0.992 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 228 1 0.436681 142 27 15.9763 ARFGEF1 0 genome.wustl.edu 37 8 68128855 68128856 + Frame_Shift_Ins INS - - G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 68128855 68128856 - G INS ARFGEF1 ENST00000262215 human ensembl 74_37 -1 known frame_shift_ins c.4656_4655 p.P1553fs 0.000:0.000 NULL pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF1 HGNC ENSG00000066777 107 0 0 44 8 15.3846 ZFHX4 0 genome.wustl.edu 37 8 77767554 77767554 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 77767554 77767554 T - DEL ZFHX4 ENST00000521891 human ensembl 74_37 +1 known frame_shift_del c.8397 p.F2800fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 56 0 0 90 17 15.8879 SGK223 0 genome.wustl.edu 37 8 8197109 8197109 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 8197109 8197109 T - DEL SGK223 ENST00000330777 human ensembl 74_37 -1 known frame_shift_del c.2199 p.V734fs 0.977 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors SGK223 Uniprot_gn ENSG00000182319 116 0 0 92 6 6.12245 RALYL 0 genome.wustl.edu 37 8 85774620 85774620 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 85774620 85774620 G - DEL RALYL ENST00000521268 human ensembl 74_37 +1 known frame_shift_del c.503 p.G171fs 1.000 pirsf_hnRNP_C_Raly pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors RALYL HGNC ENSG00000184672 38 0 0 53 8 13.1148 TMEM67 0 genome.wustl.edu 37 8 94828723 94828723 + RNA DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 94828723 94828723 A - DEL TMEM67 ENST00000463467 human ensembl 74_37 +1 putative rna NULL NULL 0.614 - - - no_errors TMEM67 HGNC ENSG00000164953 21 0 0 30 8 21.0526 KIAA1429 0 genome.wustl.edu 37 8 95523658 95523658 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 95523658 95523658 G - DEL KIAA1429 ENST00000297591 human ensembl 74_37 -1 known frame_shift_del c.3145 p.L1049fs 1.000 NULL superfamily_ARM-type_fold - no_errors KIAA1429 HGNC ENSG00000164944 46 0 0 80 17 17.5258 CPQ 0 genome.wustl.edu 37 8 97797118 97797118 + RNA DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 97797118 97797118 A - DEL CPQ ENST00000525310 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors CPQ HGNC ENSG00000104324 65 0 0 72 13 15.2941 SNORA72 0 genome.wustl.edu 37 8 99054504 99054504 + RNA DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 8 99054504 99054504 T - DEL SNORA72 ENST00000501016 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors KB-1208A12.3 Clone_based_vega_gene ENSG00000245970 18 0 0 9 8 47.0588 C9orf84 0 genome.wustl.edu 37 9 114484808 114484808 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 114484808 114484808 T - DEL C9orf84 ENST00000318737 human ensembl 74_37 -1 known frame_shift_del c.1820 p.N607fs 0.358 NULL superfamily_RuvA_2-like - no_errors C9orf84 HGNC ENSG00000165181 96 0 0 50 28 35.8974 UGCG 0 genome.wustl.edu 37 9 114695180 114695180 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 114695180 114695180 T - DEL UGCG ENST00000374279 human ensembl 74_37 +1 known frame_shift_del c.1088 p.L365fs 1.000 NULL pfam_Glyco_trans_2 - no_errors UGCG HGNC ENSG00000148154 139 0 0 61 12 16.4384 GSN 0 genome.wustl.edu 37 9 124074857 124074857 + RNA DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 124074857 124074857 A - DEL GSN ENST00000485767 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GSN HGNC ENSG00000148180 8 0 0 8 9 52.9412 GSN 0 genome.wustl.edu 37 9 124093751 124093751 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 124093751 124093751 G - DEL GSN ENST00000373807 human ensembl 74_37 +1 novel frame_shift_del c.1397 p.E468fs 0.001 smart_Villin/Gelsolin pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors GSN HGNC ENSG00000148180 8 0 0 10 4 28.5714 C9orf78 0 genome.wustl.edu 37 9 132595850 132595850 + RNA DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 132595850 132595850 T - DEL C9orf78 ENST00000461762 human ensembl 74_37 -1 known rna NULL NULL 0.032 - - - no_errors C9orf78 HGNC ENSG00000136819 49 0 0 23 21 47.7273 C9orf78 0 genome.wustl.edu 37 9 132596001 132596001 + RNA DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 132596001 132596001 A - DEL C9orf78 ENST00000461762 human ensembl 74_37 -1 known rna NULL NULL 0.115 - - - no_errors C9orf78 HGNC ENSG00000136819 29 0 0 20 3 13.0435 ABL1 0 genome.wustl.edu 37 9 133748246 133748246 + Splice_Site DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 133748246 133748246 G - DEL ABL1 ENST00000372348 human ensembl 74_37 +1 known splice_site_del c.965-1 e6-1 1.000 - - - no_errors ABL1 HGNC ENSG00000097007 169 0 0 69 13 15.8537 FAM78A 0 genome.wustl.edu 37 9 134151346 134151347 + Frame_Shift_Ins INS - - G TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 134151346 134151347 - G INS FAM78A ENST00000372271 human ensembl 74_37 -1 known frame_shift_ins c.221_220 p.Q74fs 1.000:1.000 NULL NULL - no_errors FAM78A HGNC ENSG00000126882 72 0 0 53 32 37.6471 RALGDS 0 genome.wustl.edu 37 9 135984104 135984106 + In_Frame_Del DEL AGG AGG - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 135984104 135984106 AGG - DEL RALGDS ENST00000542690 human ensembl 74_37 -1 known in_frame_del c.947_945 p.L316in_frame_del 1.000:1.000:0.998 superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RALGDS HGNC ENSG00000160271 73 0 0 40 6 13.0435 NOL6 0 genome.wustl.edu 37 9 33464082 33464082 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 33464082 33464082 G - DEL NOL6 ENST00000297990 human ensembl 74_37 -1 known frame_shift_del c.2857 p.Q953fs 1.000 pfam_Nrap pfam_Nrap - no_errors NOL6 HGNC ENSG00000165271 178 0 0 105 41 28.0822 DCAF12 0 genome.wustl.edu 37 9 34125105 34125106 + Frame_Shift_Del DEL CT CT - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 34125105 34125106 CT - DEL DCAF12 ENST00000361264 human ensembl 74_37 -1 known frame_shift_del c.249_248 p.E83fs 0.996:1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12 HGNC ENSG00000198876 83 0 0 36 20 35.7143 PIGO 0 genome.wustl.edu 37 9 35091693 35091693 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 35091693 35091693 G - DEL PIGO ENST00000341666 human ensembl 74_37 -1 known frame_shift_del c.2191 p.R731fs 0.180 NULL pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors PIGO HGNC ENSG00000165282 78 0 0 57 19 25 DOCK8 0 genome.wustl.edu 37 9 405015 405015 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 405015 405015 T - DEL DOCK8 ENST00000453981 human ensembl 74_37 +1 known frame_shift_del c.3332 p.F1113fs 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 59 0 0 18 13 41.9355 SPATA31A3 0 genome.wustl.edu 37 9 40705863 40705864 + Frame_Shift_Ins INS - - T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 40705863 40705864 - T INS SPATA31A3 ENST00000356699 human ensembl 74_37 +1 known frame_shift_ins c.3520_3521 p.S1176fs 0.000:0.007 NULL NULL - no_errors SPATA31A3 HGNC ENSG00000147926 153 0 0 146 8 5.19481 CDC37L1 0 genome.wustl.edu 37 9 4688589 4688589 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 4688589 4688589 A - DEL CDC37L1 ENST00000381854 human ensembl 74_37 +1 known frame_shift_del c.491 p.I166fs 1.000 pfam_Cdc37_Hsp90-bd pfam_Cdc37_Hsp90-bd - no_errors CDC37L1 HGNC ENSG00000106993 26 0 0 1 3 75 ANKRD20A4 0 genome.wustl.edu 37 9 69421905 69421905 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 69421905 69421905 A - DEL ANKRD20A4 ENST00000357336 human ensembl 74_37 +1 known frame_shift_del c.1369 p.N459fs 0.373 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD20A4 HGNC ENSG00000172014 53 0 0 28 6 17.6471 PRKACG 0 genome.wustl.edu 37 9 71628079 71628081 + In_Frame_Del DEL CTT CTT - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 71628079 71628081 CTT - DEL PRKACG ENST00000377276 human ensembl 74_37 -1 known in_frame_del c.930_928 p.K310in_frame_del 1.000:1.000:1.000 superfamily_Kinase-like_dom,smart_AGC-kinase_C 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 124 0 0 69 36 34.2857 SMC5 0 genome.wustl.edu 37 9 72962552 72962554 + In_Frame_Del DEL AGA AGA - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 72962552 72962554 AGA - DEL SMC5 ENST00000361138 human ensembl 74_37 +1 known in_frame_del c.2688_2690 p.E899in_frame_del 1.000:1.000:1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase - no_errors SMC5 HGNC ENSG00000198887 36 0 0 15 6 28.5714 IARS 0 genome.wustl.edu 37 9 95003101 95003101 + RNA DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 9 95003101 95003101 A - DEL IARS ENST00000473915 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors IARS HGNC ENSG00000196305 25 0 0 1 3 75 BTK 0 genome.wustl.edu 37 X 100608076 100608076 + RNA DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 100608076 100608076 A - DEL BTK ENST00000470069 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors BTK HGNC ENSG00000010671 56 0 0 54 3 5.26316 RNF128 0 genome.wustl.edu 37 X 105937256 105937256 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 105937256 105937256 T - DEL RNF128 ENST00000324342 human ensembl 74_37 +1 known frame_shift_del c.24 p.W11fs 0.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF128 HGNC ENSG00000133135 63 0 0 26 17 39.5349 ATG4A 0 genome.wustl.edu 37 X 107395165 107395166 + RNA INS - - A TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 107395165 107395166 - A INS ATG4A ENST00000474825 human ensembl 74_37 +1 putative rna NULL NULL 0.002:0.000 - - - no_errors ATG4A HGNC ENSG00000101844 25 0 0 30 11 26.8293 IRS4 0 genome.wustl.edu 37 X 107977802 107977803 + Frame_Shift_Ins INS - - C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 107977802 107977803 - C INS IRS4 ENST00000372129 human ensembl 74_37 -1 known frame_shift_ins c.1773_1772 p.K592fs 0.031:0.016 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 387 1 0.257732 240 83 25.6966 SLC25A43 0 genome.wustl.edu 37 X 118587011 118587011 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 118587011 118587011 A - DEL SLC25A43 ENST00000217909 human ensembl 74_37 +1 known frame_shift_del c.1009 p.K338fs 0.986 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A43 HGNC ENSG00000077713 110 0 0 57 38 40 DCAF12L1 0 genome.wustl.edu 37 X 125685311 125685311 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 125685311 125685311 A - DEL DCAF12L1 ENST00000371126 human ensembl 74_37 -1 known frame_shift_del c.1281 p.N429fs 0.867 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L1 HGNC ENSG00000198889 243 0 0 190 11 5.47264 SMARCA1 0 genome.wustl.edu 37 X 128621084 128621084 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 128621084 128621084 T - DEL SMARCA1 ENST00000371122 human ensembl 74_37 -1 known frame_shift_del c.2128 p.M710fs 1.000 NULL 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 58 0 0 29 12 29.2683 UTP14A 0 genome.wustl.edu 37 X 129055622 129055622 + RNA DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 129055622 129055622 A - DEL UTP14A ENST00000498179 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors UTP14A HGNC ENSG00000156697 12 0 0 12 10 45.4545 MOSPD1 0 genome.wustl.edu 37 X 134033048 134033048 + RNA DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 134033048 134033048 T - DEL MOSPD1 ENST00000462060 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MOSPD1 HGNC ENSG00000101928 78 0 0 39 14 26.4151 PASD1 0 genome.wustl.edu 37 X 150841026 150841027 + Frame_Shift_Ins INS - - T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 150841026 150841027 - T INS PASD1 ENST00000370357 human ensembl 74_37 +1 known frame_shift_ins c.1809_1810 p.L604fs 0.000:0.000 NULL superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PASD1 HGNC ENSG00000166049 162 0 0 94 9 8.73786 ASB11 0 genome.wustl.edu 37 X 15333633 15333633 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 15333633 15333633 A - DEL ASB11 ENST00000480796 human ensembl 74_37 -1 known frame_shift_del c.95 p.L32fs 1.000 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 - no_errors ASB11 HGNC ENSG00000165192 150 0 0 47 23 32.8571 PIR 0 genome.wustl.edu 37 X 15408208 15408208 + RNA DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 15408208 15408208 A - DEL PIR ENST00000484433 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors PIR HGNC ENSG00000087842 9 0 0 5 4 44.4444 F8 0 genome.wustl.edu 37 X 154158194 154158195 + Frame_Shift_Ins INS - - T TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 154158194 154158195 - T INS F8 ENST00000360256 human ensembl 74_37 -1 known frame_shift_ins c.3871_3870 p.G1290fs 0.000:0.001 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 121 1 0.819672 84 20 19.2308 FAM47A 0 genome.wustl.edu 37 X 34150246 34150246 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 34150246 34150246 A - DEL FAM47A ENST00000346193 human ensembl 74_37 -1 known frame_shift_del c.150 p.F50fs 0.002 NULL NULL - no_errors FAM47A HGNC ENSG00000185448 140 0 0 97 28 22.4 BCOR 0 genome.wustl.edu 37 X 39933400 39933400 + Frame_Shift_Del DEL C C - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 39933400 39933400 C - DEL BCOR ENST00000378444 human ensembl 74_37 -1 known frame_shift_del c.1199 p.G400fs 0.007 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 47 0 0 26 11 29.7297 MED14 0 genome.wustl.edu 37 X 40588606 40588607 + RNA DEL AA AA - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 40588606 40588607 AA - DEL MED14 ENST00000463072 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors MED14 HGNC ENSG00000180182 53 0 0 21 10 32.2581 HUWE1 0 genome.wustl.edu 37 X 53576030 53576031 + Frame_Shift_Ins INS - - C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 53576030 53576031 - C INS HUWE1 ENST00000262854 human ensembl 74_37 -1 known frame_shift_ins c.9925_9924 p.R3308fs 0.980:0.001 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 70 0 0 26 8 23.5294 KLF8 0 genome.wustl.edu 37 X 56292162 56292162 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 56292162 56292162 A - DEL KLF8 ENST00000468660 human ensembl 74_37 +1 known frame_shift_del c.631 p.N212fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF8 HGNC ENSG00000102349 82 0 0 43 13 23.2143 RGAG4 0 genome.wustl.edu 37 X 71349748 71349748 + Frame_Shift_Del DEL G G - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 71349748 71349748 G - DEL RGAG4 ENST00000479991 human ensembl 74_37 -1 known frame_shift_del c.1643 p.P548fs 0.055 NULL pfam_Retrotrans_gag_dom - no_errors RGAG4 HGNC ENSG00000242732 93 0 0 42 20 32.2581 ATRX 0 genome.wustl.edu 37 X 76763680 76763681 + RNA DEL AA AA - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 76763680 76763681 AA - DEL ATRX ENST00000480283 human ensembl 74_37 -1 known rna NULL NULL 0.003:0.001 - - - no_errors ATRX HGNC ENSG00000085224 11 0 0 5 7 58.3333 ATRX 0 genome.wustl.edu 37 X 76829815 76829816 + Frame_Shift_Ins INS - - C TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 76829815 76829816 - C INS ATRX ENST00000373344 human ensembl 74_37 -1 known frame_shift_ins c.6226_6225 p.K2075fs 1.000:0.993 superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 191 0 0 65 14 17.7215 BRWD3 0 genome.wustl.edu 37 X 79955483 79955483 + Frame_Shift_Del DEL T T - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 79955483 79955483 T - DEL BRWD3 ENST00000373275 human ensembl 74_37 -1 known frame_shift_del c.2916 p.K972fs 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 29 0 0 15 3 16.6667 CYLC1 0 genome.wustl.edu 37 X 83128981 83128981 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 83128981 83128981 A - DEL CYLC1 ENST00000329312 human ensembl 74_37 +1 known frame_shift_del c.1265 p.K424fs 0.000 NULL NULL - no_errors CYLC1 HGNC ENSG00000183035 11 0 0 5 3 37.5 DIAPH2 0 genome.wustl.edu 37 X 95993621 95993621 + Frame_Shift_Del DEL A A - TCGA-HU-A4GT-01A-21D-A25D-08 TCGA-HU-A4GT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 445875af-7a67-4041-bc25-07e0b5dfb66d 50fad79c-0ab5-41b5-b176-923b06f78c47 X 95993621 95993621 A - DEL DIAPH2 ENST00000324765 human ensembl 74_37 +1 known frame_shift_del c.202 p.E70fs 1.000 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DIAPH2 HGNC ENSG00000147202 48 0 0 15 12 44.4444