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 S1PR1 0 genome.wustl.edu 37 1 101705000 101705000 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 101705000 101705000 G A SNP S1PR1 ENST00000305352 human ensembl 74_37 +1 known missense c.460 p.G154R 0.992 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_EDG1_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_EDG1_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt - no_errors S1PR1 HGNC ENSG00000170989 140 0 0 68 57 45.6 KIF1B 0 genome.wustl.edu 37 1 10357036 10357036 + Missense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 10357036 10357036 C A SNP KIF1B ENST00000263934 human ensembl 74_37 +1 known missense c.1805 p.P602H 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 104 0 0 89 18 16.8224 CASZ1 0 genome.wustl.edu 37 1 10720568 10720568 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 10720568 10720568 G A SNP CASZ1 ENST00000377022 human ensembl 74_37 -1 known silent c.531 p.Y177 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 34 0 0 27 8 22.8571 CELSR2 0 genome.wustl.edu 37 1 109801093 109801093 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 109801093 109801093 T C SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known missense c.3350 p.V1117A 1.000 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 17 0 0 14 4 22.2222 C1orf127 0 genome.wustl.edu 37 1 11008532 11008532 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 11008532 11008532 C T SNP C1orf127 ENST00000377004 human ensembl 74_37 -1 known missense c.1660 p.A554T 0.000 NULL superfamily_DNA-bd_dom_put - no_errors C1orf127 HGNC ENSG00000175262 60 0 0 34 28 45.1613 TARDBP 0 genome.wustl.edu 37 1 11073800 11073800 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 11073800 11073800 C T SNP TARDBP ENST00000240185 human ensembl 74_37 +1 known missense c.16 p.R6W 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TARDBP HGNC ENSG00000120948 19 0 0 13 5 27.7778 SLC16A4 0 genome.wustl.edu 37 1 110919614 110919614 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 110919614 110919614 G A SNP SLC16A4 ENST00000369779 human ensembl 74_37 -1 known silent c.1200 p.A400 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A4 HGNC ENSG00000168679 64 0 0 25 33 56.8966 DENND2D 0 genome.wustl.edu 37 1 111734910 111734910 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 111734910 111734910 G A SNP DENND2D ENST00000357640 human ensembl 74_37 -1 known missense c.824 p.A275V 0.808 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom 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 DENND2D HGNC ENSG00000162777 51 0 0 24 20 45.4545 FAM212B 0 genome.wustl.edu 37 1 112269948 112269948 + Missense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 112269948 112269948 C A SNP FAM212B ENST00000357260 human ensembl 74_37 -1 known missense c.536 p.G179V 0.866 NULL NULL - no_errors FAM212B HGNC ENSG00000197852 113 0 0 70 34 32.6923 KCND3 0 genome.wustl.edu 37 1 112318802 112318802 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 112318802 112318802 G A SNP KCND3 ENST00000315987 human ensembl 74_37 -1 known missense c.1865 p.A622V 0.033 NULL pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,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_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND3 HGNC ENSG00000171385 122 0 0 82 19 18.8119 KCND3 0 genome.wustl.edu 37 1 112323324 112323324 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 112323324 112323324 C T SNP KCND3 ENST00000315987 human ensembl 74_37 -1 known silent c.1359 p.A453 0.003 pfam_K_chnl_volt-dep_Kv4_C,prints_K_chnl_volt-dep_Kv4.3 pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,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_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND3 HGNC ENSG00000171385 18 0 0 13 11 45.8333 LRIG2 0 genome.wustl.edu 37 1 113666509 113666509 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 113666509 113666509 G A SNP LRIG2 ENST00000361127 human ensembl 74_37 +1 known missense c.2984 p.R995Q 0.596 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG2 HGNC ENSG00000198799 25 0 0 23 18 43.9024 PTPN22 0 genome.wustl.edu 37 1 114380685 114380685 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 114380685 114380685 C T SNP PTPN22 ENST00000359785 human ensembl 74_37 -1 known missense c.1337 p.R446Q 0.999 pirsf_Non-rcpt_Tyr_Pase_8/22 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 160 0 0 92 42 31.3433 VANGL1 0 genome.wustl.edu 37 1 116226625 116226625 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 116226625 116226625 G A SNP VANGL1 ENST00000310260 human ensembl 74_37 +1 known missense c.1007 p.R336K 1.000 pfam_Strabismus,pirsf_Strabismus pfam_Strabismus,pirsf_Strabismus - no_errors VANGL1 HGNC ENSG00000173218 44 0 0 26 21 44.6809 ATP1A1 0 genome.wustl.edu 37 1 116940562 116940562 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 116940562 116940562 G A SNP ATP1A1 ENST00000295598 human ensembl 74_37 +1 known missense c.2026 p.E676K 0.999 pfam_HAD-like_dom,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 152 0 0 134 37 21.6374 MTHFR 0 genome.wustl.edu 37 1 11861314 11861314 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 11861314 11861314 G A SNP MTHFR ENST00000376583 human ensembl 74_37 -1 known missense c.502 p.H168Y 1.000 pfam_Mehydrof_redctse,tigrfam_Fadh2_euk pfam_Mehydrof_redctse,tigrfam_Fadh2_euk - no_errors MTHFR HGNC ENSG00000177000 121 0 0 65 41 38.6792 MFN2 0 genome.wustl.edu 37 1 12061830 12061830 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 12061830 12061830 C T SNP MFN2 ENST00000235329 human ensembl 74_37 +1 known silent c.975 p.G325 0.997 superfamily_P-loop_NTPase pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors MFN2 HGNC ENSG00000116688 420 0 0 366 95 20.6074 MFN2 0 genome.wustl.edu 37 1 12067172 12067172 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 12067172 12067172 C T SNP MFN2 ENST00000235329 human ensembl 74_37 +1 known silent c.1935 p.Y645 0.933 pfam_Fzo/mitofusin_HR2 pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors MFN2 HGNC ENSG00000116688 153 0 0 92 55 37.415 VPS13D 0 genome.wustl.edu 37 1 12353588 12353588 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 12353588 12353588 C T SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known missense c.5860 p.R1954W 0.931 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 38 0 0 30 5 14.2857 ATAD3B 0 genome.wustl.edu 37 1 1421171 1421171 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 1421171 1421171 C T SNP ATAD3B ENST00000308647 human ensembl 74_37 +1 known missense c.916 p.R306W 1.000 superfamily_P-loop_NTPase pfam_DUF3523,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD3B HGNC ENSG00000160072 34 0 0 23 25 52.0833 ATAD3B 0 genome.wustl.edu 37 1 1424620 1424620 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 1424620 1424620 G A SNP ATAD3B ENST00000308647 human ensembl 74_37 +1 known missense c.1303 p.A435T 1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_DUF3523,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD3B HGNC ENSG00000160072 129 0 0 82 42 33.871 PDE4DIP 0 genome.wustl.edu 37 1 144917907 144917907 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 144917907 144917907 C T SNP PDE4DIP ENST00000369356 human ensembl 74_37 -1 known missense c.1379 p.R460Q 0.863 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 487 0 0 531 43 7.49129 BCL9 0 genome.wustl.edu 37 1 147095879 147095879 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 147095879 147095879 C T SNP BCL9 ENST00000234739 human ensembl 74_37 +1 known missense c.3400 p.R1134W 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 199 0 0 278 47 14.4615 HIST2H2AC 0 genome.wustl.edu 37 1 149858829 149858829 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 149858829 149858829 C T SNP HIST2H2AC ENST00000331380 human ensembl 74_37 +1 known missense c.305 p.T102I 1.000 superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST2H2AC HGNC ENSG00000184260 132 0 0 190 25 11.6279 SETDB1 0 genome.wustl.edu 37 1 150921647 150921647 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 150921647 150921647 C T SNP SETDB1 ENST00000271640 human ensembl 74_37 +1 known silent c.1317 p.T439 0.205 NULL pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETDB1 HGNC ENSG00000143379 71 0 0 104 10 8.77193 SEMA6C 0 genome.wustl.edu 37 1 151110553 151110553 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 151110553 151110553 C T SNP SEMA6C ENST00000368913 human ensembl 74_37 -1 known silent c.576 p.A192 0.674 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,pfscan_Semap_dom - no_errors SEMA6C HGNC ENSG00000143434 84 0 0 141 15 9.61538 SEMA6C 0 genome.wustl.edu 37 1 151112543 151112543 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 151112543 151112543 G A SNP SEMA6C ENST00000368913 human ensembl 74_37 -1 known missense c.142 p.R48W 1.000 superfamily_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,pfscan_Semap_dom - no_errors SEMA6C HGNC ENSG00000143434 26 0 0 21 50 70.4225 CGN 0 genome.wustl.edu 37 1 151502454 151502454 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 151502454 151502454 C T SNP CGN ENST00000271636 human ensembl 74_37 +1 known missense c.2176 p.R726W 1.000 NULL pfam_Myosin_tail - no_errors CGN HGNC ENSG00000143375 66 0 0 94 48 33.8028 TUFT1 0 genome.wustl.edu 37 1 151554167 151554167 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 151554167 151554167 G A SNP TUFT1 ENST00000538902 human ensembl 74_37 +1 known missense c.1214 p.R405Q 0.996 NULL superfamily_Prefoldin - no_errors TUFT1 HGNC ENSG00000143367 52 0 0 32 59 64.8352 TCHHL1 0 genome.wustl.edu 37 1 152059548 152059548 + Missense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 152059548 152059548 C A SNP TCHHL1 ENST00000368806 human ensembl 74_37 -1 known missense c.610 p.G204C 0.000 NULL pfam_S100_Ca-bd_sub - no_errors TCHHL1 HGNC ENSG00000182898 117 0 0 141 23 14.0244 TCHH 0 genome.wustl.edu 37 1 152080033 152080033 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 152080033 152080033 C T SNP TCHH ENST00000368804 human ensembl 74_37 -1 known missense c.5660 p.R1887H 0.226 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 192 0 0 235 28 10.6464 LCE3D 0 genome.wustl.edu 37 1 152552219 152552219 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 152552219 152552219 C T SNP LCE3D ENST00000368787 human ensembl 74_37 -1 known missense c.194 p.R65H 0.052 NULL NULL - no_errors LCE3D HGNC ENSG00000163202 190 0 0 97 175 64.3382 LCE2A 0 genome.wustl.edu 37 1 152671467 152671467 + Silent SNP T T A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 152671467 152671467 T A SNP LCE2A ENST00000368779 human ensembl 74_37 +1 known silent c.90 p.P30 0.001 NULL NULL - no_errors LCE2A HGNC ENSG00000187173 151 0 0 235 67 22.1854 LCE1B 0 genome.wustl.edu 37 1 152785077 152785077 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 152785077 152785077 G A SNP LCE1B ENST00000360090 human ensembl 74_37 +1 known missense c.155 p.C52Y 0.994 NULL NULL - no_errors LCE1B HGNC ENSG00000196734 148 0 0 228 32 12.3077 KAZN 0 genome.wustl.edu 37 1 15386753 15386753 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 15386753 15386753 G A SNP KAZN ENST00000376030 human ensembl 74_37 +1 known silent c.1002 p.P334 0.003 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors KAZN HGNC ENSG00000189337 253 0 0 216 58 21.1679 DENND4B 0 genome.wustl.edu 37 1 153914361 153914361 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 153914361 153914361 G A SNP DENND4B ENST00000361217 human ensembl 74_37 -1 known missense c.1039 p.R347C 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4B HGNC ENSG00000198837 61 0 0 89 10 10.101 NUP210L 0 genome.wustl.edu 37 1 154125290 154125290 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 154125290 154125290 A G SNP NUP210L ENST00000368559 human ensembl 74_37 -1 known missense c.262 p.C88R 0.997 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 97 0 0 119 27 18.4932 AQP10 0 genome.wustl.edu 37 1 154296101 154296101 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 154296101 154296101 G A SNP AQP10 ENST00000324978 human ensembl 74_37 +1 known missense c.526 p.A176T 1.000 pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_10,prints_Aquaporin_3,tigrfam_MIP - no_errors AQP10 HGNC ENSG00000143595 287 0 0 487 71 12.724 AQP10 0 genome.wustl.edu 37 1 154296823 154296823 + Missense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 154296823 154296823 C A SNP AQP10 ENST00000324978 human ensembl 74_37 +1 known missense c.773 p.A258D 0.143 pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_10,prints_Aquaporin_3,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_10,prints_Aquaporin_3,tigrfam_MIP - no_errors AQP10 HGNC ENSG00000143595 85 0 0 121 24 16.5517 ADAM15 0 genome.wustl.edu 37 1 155032782 155032782 + Nonsense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 155032782 155032782 C T SNP ADAM15 ENST00000356955 human ensembl 74_37 +1 known nonsense c.2170 p.R724* 0.049 NULL 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 41 0 0 28 48 63.1579 GBA 0 genome.wustl.edu 37 1 155205047 155205047 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 155205047 155205047 C T SNP GBA ENST00000327247 human ensembl 74_37 -1 known missense c.1444 p.D482N 0.005 pfam_Glyco_hydro_30 pfam_Glyco_hydro_30,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_30 - no_errors GBA HGNC ENSG00000177628 54 0 0 29 66 69.4737 CLK2 0 genome.wustl.edu 37 1 155239316 155239316 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 155239316 155239316 C T SNP CLK2 ENST00000368361 human ensembl 74_37 -1 known missense c.362 p.R121Q 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 CLK2 HGNC ENSG00000176444 101 0 0 186 47 20.1717 HCN3 0 genome.wustl.edu 37 1 155257023 155257023 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 155257023 155257023 C T SNP HCN3 ENST00000368358 human ensembl 74_37 +1 known missense c.1537 p.R513C 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG pfam_Ion_trans_N,pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN3 HGNC ENSG00000143630 67 0 0 40 87 68.5039 HCN3 0 genome.wustl.edu 37 1 155257601 155257601 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 155257601 155257601 C T SNP HCN3 ENST00000368358 human ensembl 74_37 +1 known missense c.1672 p.R558C 1.000 NULL pfam_Ion_trans_N,pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN3 HGNC ENSG00000143630 103 0 0 138 23 14.2857 RAB25 0 genome.wustl.edu 37 1 156039993 156039993 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 156039993 156039993 G A SNP RAB25 ENST00000361084 human ensembl 74_37 +1 known missense c.557 p.R186Q 0.998 superfamily_P-loop_NTPase,smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,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 RAB25 HGNC ENSG00000132698 73 0 0 37 80 68.3761 SMG5 0 genome.wustl.edu 37 1 156228909 156228909 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 156228909 156228909 C T SNP SMG5 ENST00000361813 human ensembl 74_37 -1 known missense c.2329 p.A777T 0.829 NULL pfam_EST1,smart_PIN_dom - no_errors SMG5 HGNC ENSG00000198952 50 0 0 78 10 11.3636 IQGAP3 0 genome.wustl.edu 37 1 156533003 156533003 + Nonsense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 156533003 156533003 G A SNP IQGAP3 ENST00000361170 human ensembl 74_37 -1 known nonsense c.721 p.R241* 0.658 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP - no_errors IQGAP3 HGNC ENSG00000183856 170 0 0 228 39 14.6067 SH2D2A 0 genome.wustl.edu 37 1 156779465 156779465 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 156779465 156779465 G A SNP SH2D2A ENST00000392306 human ensembl 74_37 -1 known silent c.732 p.A244 0.000 NULL pfam_SH2,smart_SH2,pfscan_SH2 - no_errors SH2D2A HGNC ENSG00000027869 119 0 0 73 204 73.6462 FCRL5 0 genome.wustl.edu 37 1 157485520 157485520 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 157485520 157485520 G A SNP FCRL5 ENST00000356953 human ensembl 74_37 -1 known missense c.2879 p.A960V 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL5 HGNC ENSG00000143297 363 0 0 568 135 19.2034 SPTA1 0 genome.wustl.edu 37 1 158639328 158639328 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 158639328 158639328 C T SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.1703 p.R568H 0.983 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 201 0 0 92 244 72.619 OR6K3 0 genome.wustl.edu 37 1 158687391 158687391 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 158687391 158687391 T C SNP OR6K3 ENST00000368146 human ensembl 74_37 -1 known missense c.563 p.N188S 0.194 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K3 HGNC ENSG00000203757 123 0 0 72 172 70.4918 OR6N1 0 genome.wustl.edu 37 1 158736247 158736247 + Missense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 158736247 158736247 C A SNP OR6N1 ENST00000335094 human ensembl 74_37 -1 known missense c.226 p.A76S 0.961 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6N1 HGNC ENSG00000197403 97 0 0 146 17 10.4294 OR6N2 0 genome.wustl.edu 37 1 158746934 158746934 + Silent SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 158746934 158746934 G T SNP OR6N2 ENST00000339258 human ensembl 74_37 -1 known silent c.492 p.S164 0.056 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6N2 HGNC ENSG00000188340 58 0 0 114 15 11.6279 IFI16 0 genome.wustl.edu 37 1 159021882 159021882 + Silent SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 159021882 159021882 A G SNP IFI16 ENST00000295809 human ensembl 74_37 +1 known silent c.2079 p.V693 0.000 pfam_HIN200/IF120x,pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC ENSG00000163565 84 0 0 104 52 33.3333 CADM3 0 genome.wustl.edu 37 1 159163698 159163698 + Missense_Mutation SNP A A C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 159163698 159163698 A C SNP CADM3 ENST00000368124 human ensembl 74_37 +1 known missense c.661 p.T221P 1.000 pfam_CD80_C2-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM3 HGNC ENSG00000162706 58 0 0 135 17 11.1842 SLC25A34 0 genome.wustl.edu 37 1 16063318 16063318 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 16063318 16063318 C T SNP SLC25A34 ENST00000294454 human ensembl 74_37 +1 known missense c.338 p.A113V 1.000 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 SLC25A34 HGNC ENSG00000162461 20 0 0 12 13 52 TMEM82 0 genome.wustl.edu 37 1 16069534 16069534 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 16069534 16069534 G A SNP TMEM82 ENST00000375782 human ensembl 74_37 +1 known missense c.181 p.E61K 0.001 NULL NULL - no_errors TMEM82 HGNC ENSG00000162460 113 0 0 97 31 24.2188 ITLN2 0 genome.wustl.edu 37 1 160922427 160922427 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 160922427 160922427 C T SNP ITLN2 ENST00000368029 human ensembl 74_37 -1 known missense c.176 p.R59H 0.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom - no_errors ITLN2 HGNC ENSG00000158764 43 0 0 83 14 14.433 ARHGAP30 0 genome.wustl.edu 37 1 161017913 161017913 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 161017913 161017913 C T SNP ARHGAP30 ENST00000368013 human ensembl 74_37 -1 known silent c.2898 p.P966 0.807 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP30 HGNC ENSG00000186517 149 0 0 279 32 10.2894 ARHGAP30 0 genome.wustl.edu 37 1 161018111 161018111 + Silent SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 161018111 161018111 A G SNP ARHGAP30 ENST00000368013 human ensembl 74_37 -1 known silent c.2700 p.P900 0.105 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP30 HGNC ENSG00000186517 67 0 0 91 13 12.5 ARHGAP30 0 genome.wustl.edu 37 1 161039378 161039378 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 161039378 161039378 C T SNP ARHGAP30 ENST00000368013 human ensembl 74_37 -1 known missense c.37 p.A13T 0.961 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP30 HGNC ENSG00000186517 131 0 0 202 28 12.1739 PVRL4 0 genome.wustl.edu 37 1 161049470 161049470 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 161049470 161049470 C T SNP PVRL4 ENST00000368012 human ensembl 74_37 -1 known missense c.349 p.A117T 0.999 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PVRL4 HGNC ENSG00000143217 33 0 0 61 26 29.8851 ADAMTS4 0 genome.wustl.edu 37 1 161167854 161167854 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 161167854 161167854 G A SNP ADAMTS4 ENST00000367996 human ensembl 74_37 -1 known silent c.564 p.S188 0.011 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 75 0 0 161 28 14.8148 RPL31P11 0 genome.wustl.edu 37 1 161654816 161654816 + RNA SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 161654816 161654816 G A SNP RPL31P11 ENST00000426558 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RPL31P11 HGNC ENSG00000213075 31 0 0 56 12 17.6471 FCRLB 0 genome.wustl.edu 37 1 161693278 161693278 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 161693278 161693278 C T SNP FCRLB ENST00000367948 human ensembl 74_37 +1 known silent c.174 p.S58 0.858 smart_Ig_sub,pfscan_Ig-like_dom smart_Ig_sub,pfscan_Ig-like_dom - no_errors FCRLB HGNC ENSG00000162746 199 0 0 318 51 13.8211 DUSP12 0 genome.wustl.edu 37 1 161722911 161722911 + Missense_Mutation SNP A A C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 161722911 161722911 A C SNP DUSP12 ENST00000367943 human ensembl 74_37 +1 known missense c.721 p.S241R 1.000 pirsf_DUSP12,pfscan_Znf_C2H2 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_DUSP12,pfscan_Znf_C2H2,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors DUSP12 HGNC ENSG00000081721 204 0 0 307 29 8.63095 ATF6 0 genome.wustl.edu 37 1 161761995 161761995 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 161761995 161761995 C T SNP ATF6 ENST00000367942 human ensembl 74_37 +1 known missense c.566 p.A189V 1.000 NULL pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors ATF6 HGNC ENSG00000118217 343 0 0 538 79 12.8039 OLFML2B 0 genome.wustl.edu 37 1 161967626 161967626 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 161967626 161967626 C T SNP OLFML2B ENST00000294794 human ensembl 74_37 -1 known missense c.1463 p.R488Q 1.000 NULL pfam_Olfac-like,superfamily_NA-bd_OB-fold,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2B HGNC ENSG00000162745 354 1 0.28169 662 92 12.2016 NOS1AP 0 genome.wustl.edu 37 1 162302876 162302876 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 162302876 162302876 C T SNP NOS1AP ENST00000361897 human ensembl 74_37 +1 known silent c.414 p.S138 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors NOS1AP HGNC ENSG00000198929 105 0 0 129 49 27.5281 ARHGEF19 0 genome.wustl.edu 37 1 16525156 16525156 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 16525156 16525156 C T SNP ARHGEF19 ENST00000270747 human ensembl 74_37 -1 known missense c.2335 p.A779T 1.000 superfamily_SH3_domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF19 HGNC ENSG00000142632 90 0 0 56 26 31.7073 POGK 0 genome.wustl.edu 37 1 166818865 166818865 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 166818865 166818865 G A SNP POGK ENST00000367875 human ensembl 74_37 +1 known missense c.1049 p.R350H 0.879 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_Brinker_DNA-bd,pfam_HTH_CenpB_DNA-bd_dom,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Homeodomain-like,smart_Krueppel-associated_box,smart_HTH_CenpB_DNA-bd_dom,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors POGK HGNC ENSG00000143157 136 0 0 50 120 70.5882 ILDR2 0 genome.wustl.edu 37 1 166890585 166890585 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 166890585 166890585 G A SNP ILDR2 ENST00000271417 human ensembl 74_37 -1 known missense c.1243 p.R415W 0.710 NULL pfam_LISCH7,smart_Ig_sub - no_errors ILDR2 HGNC ENSG00000143195 33 0 0 64 6 8.57143 F5 0 genome.wustl.edu 37 1 169529841 169529841 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 169529841 169529841 G A SNP F5 ENST00000367797 human ensembl 74_37 -1 known silent c.537 p.I179 0.000 pfam_Cu-oxidase_3,superfamily_Cupredoxin pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 137 1 0.724638 81 197 70.8633 SELE 0 genome.wustl.edu 37 1 169701061 169701061 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 169701061 169701061 G A SNP SELE ENST00000333360 human ensembl 74_37 -1 known silent c.444 p.C148 1.000 pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,pfscan_EG-like_dom pfam_Sushi_SCR_CCP,pfam_C-type_lectin,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELE HGNC ENSG00000007908 56 0 0 88 8 8.33333 C1orf112 0 genome.wustl.edu 37 1 169796914 169796914 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 169796914 169796914 C T SNP C1orf112 ENST00000286031 human ensembl 74_37 +1 known missense c.1060 p.P354S 0.999 NULL NULL - no_errors C1orf112 HGNC ENSG00000000460 519 0 0 957 100 9.46074 KIFAP3 0 genome.wustl.edu 37 1 169993641 169993641 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 169993641 169993641 T C SNP KIFAP3 ENST00000361580 human ensembl 74_37 -1 known missense c.938 p.D313G 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors KIFAP3 HGNC ENSG00000075945 59 0 0 76 4 5 MYOC 0 genome.wustl.edu 37 1 171605471 171605471 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 171605471 171605471 G A SNP MYOC ENST00000037502 human ensembl 74_37 -1 known missense c.1109 p.P370L 0.999 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors MYOC HGNC ENSG00000034971 154 0 0 218 27 11.0204 CROCC 0 genome.wustl.edu 37 1 17298923 17298923 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 17298923 17298923 C T SNP CROCC ENST00000375541 human ensembl 74_37 +1 known silent c.6036 p.S2012 0.000 NULL superfamily_Prefoldin,superfamily_t-SNARE - no_errors CROCC HGNC ENSG00000058453 68 0 0 24 21 46.6667 SLC9C2 0 genome.wustl.edu 37 1 173494007 173494007 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 173494007 173494007 G A SNP SLC9C2 ENST00000367714 human ensembl 74_37 -1 known missense c.2425 p.R809W 0.752 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC ENSG00000162753 176 0 0 197 35 15.0862 PADI2 0 genome.wustl.edu 37 1 17431553 17431553 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 17431553 17431553 C T SNP PADI2 ENST00000375486 human ensembl 74_37 -1 known silent c.96 p.A32 0.145 pfam_PAD_N,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI2 HGNC ENSG00000117115 39 0 0 18 16 47.0588 MRPS14 0 genome.wustl.edu 37 1 174983885 174983885 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 174983885 174983885 G A SNP MRPS14 ENST00000476371 human ensembl 74_37 -1 known missense c.307 p.R103C 1.000 pfam_Ribosomal_S14 pfam_Ribosomal_S14 - no_errors MRPS14 HGNC ENSG00000120333 145 0 0 264 53 16.7192 TNN 0 genome.wustl.edu 37 1 175116086 175116086 + Missense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 175116086 175116086 G T SNP TNN ENST00000239462 human ensembl 74_37 +1 known missense c.3779 p.W1260L 1.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom 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 61 0 0 91 33 26.6129 ANGPTL1 0 genome.wustl.edu 37 1 178834841 178834841 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 178834841 178834841 C T SNP ANGPTL1 ENST00000234816 human ensembl 74_37 -1 known missense c.71 p.G24E 0.996 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPTL1 HGNC ENSG00000116194 143 0 0 250 31 11.032 SOAT1 0 genome.wustl.edu 37 1 179317995 179317995 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 179317995 179317995 C T SNP SOAT1 ENST00000367619 human ensembl 74_37 +1 known missense c.1232 p.T411M 1.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors SOAT1 HGNC ENSG00000057252 178 0 0 209 108 34.0694 LHX4 0 genome.wustl.edu 37 1 180240614 180240614 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 180240614 180240614 G A SNP LHX4 ENST00000263726 human ensembl 74_37 +1 known missense c.551 p.R184Q 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX4 HGNC ENSG00000121454 129 0 0 77 183 70.3846 RGL1 0 genome.wustl.edu 37 1 183869285 183869285 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 183869285 183869285 G A SNP RGL1 ENST00000304685 human ensembl 74_37 +1 known missense c.1337 p.G446D 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 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 RGL1 HGNC ENSG00000143344 85 0 0 161 19 10.5556 SWT1 0 genome.wustl.edu 37 1 185173972 185173972 + Missense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 185173972 185173972 G T SNP SWT1 ENST00000367500 human ensembl 74_37 +1 known missense c.1810 p.A604S 1.000 NULL smart_PIN_dom - no_errors SWT1 HGNC ENSG00000116668 73 0 0 30 56 65.1163 HMCN1 0 genome.wustl.edu 37 1 186088422 186088422 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 186088422 186088422 A G SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.11948 p.H3983R 0.008 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 90 0 0 151 19 11.1765 BRINP3 0 genome.wustl.edu 37 1 190250845 190250845 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 190250845 190250845 A G SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known missense c.272 p.V91A 1.000 pfam_MACPF,smart_MACPF pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 80 0 0 130 16 10.9589 UBR4 0 genome.wustl.edu 37 1 19478961 19478961 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 19478961 19478961 G A SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known missense c.6842 p.T2281M 0.998 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 142 0 0 114 44 27.8481 UBR4 0 genome.wustl.edu 37 1 19487642 19487642 + Splice_Site SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 19487642 19487642 C A SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known splice_site c.5176-1 e38-1 1.000 - - - no_errors UBR4 HGNC ENSG00000127481 38 0 0 26 6 18.75 KCNT2 0 genome.wustl.edu 37 1 196285104 196285104 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 196285104 196285104 C T SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known missense c.2401 p.V801M 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 56 0 0 83 8 8.79121 PQLC2 0 genome.wustl.edu 37 1 19653785 19653785 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 19653785 19653785 C T SNP PQLC2 ENST00000375153 human ensembl 74_37 +1 known missense c.683 p.T228M 1.000 smart_CTNS superfamily_MFS_dom_general_subst_transpt,smart_CTNS - no_errors PQLC2 HGNC ENSG00000040487 81 0 0 68 12 15 CFH 0 genome.wustl.edu 37 1 196694254 196694254 + Missense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 196694254 196694254 G T SNP CFH ENST00000367429 human ensembl 74_37 +1 known missense c.1700 p.R567I 0.498 superfamily_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 55 0 0 64 7 9.85915 ASPM 0 genome.wustl.edu 37 1 197091623 197091623 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 197091623 197091623 T C SNP ASPM ENST00000367409 human ensembl 74_37 -1 known missense c.3493 p.T1165A 0.997 pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,pfscan_CH-domain 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 59 0 0 76 16 17.3913 NEK7 0 genome.wustl.edu 37 1 198288596 198288596 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 198288596 198288596 G A SNP NEK7 ENST00000367385 human ensembl 74_37 +1 known missense c.853 p.V285I 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK7 HGNC ENSG00000151414 88 0 0 103 15 12.7119 ATP6V1G3 0 genome.wustl.edu 37 1 198498278 198498278 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 198498278 198498278 T C SNP ATP6V1G3 ENST00000367381 human ensembl 74_37 -1 known missense c.134 p.E45G 1.000 tigrfam_V-ATPase_G tigrfam_V-ATPase_G - no_errors ATP6V1G3 HGNC ENSG00000151418 142 0 0 180 18 9.09091 PTPRC 0 genome.wustl.edu 37 1 198685924 198685924 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 198685924 198685924 C T SNP PTPRC ENST00000442510 human ensembl 74_37 +1 known missense c.1405 p.R469C 0.048 pirsf_Leukocyte_common_ag,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 56 0 0 59 9 13.2353 PTPRC 0 genome.wustl.edu 37 1 198703545 198703545 + Missense_Mutation SNP A A C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 198703545 198703545 A C SNP PTPRC ENST00000442510 human ensembl 74_37 +1 known missense c.2268 p.E756D 1.000 pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 422 0 0 462 250 35.1124 TMCO4 0 genome.wustl.edu 37 1 20082244 20082244 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 20082244 20082244 C T SNP TMCO4 ENST00000294543 human ensembl 74_37 -1 known missense c.398 p.R133Q 1.000 NULL pfam_DUF726,pfam_DUF900_hydrolase - no_errors TMCO4 HGNC ENSG00000162542 160 0 0 78 56 41.791 CACNA1S 0 genome.wustl.edu 37 1 201041891 201041891 + Missense_Mutation SNP T T A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 201041891 201041891 T A SNP CACNA1S ENST00000362061 human ensembl 74_37 -1 known missense c.2219 p.D740V 1.000 prints_VDCC_L_a1ssu pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 138 0 0 259 22 7.82918 IGFN1 0 genome.wustl.edu 37 1 201187676 201187676 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 201187676 201187676 C T SNP IGFN1 ENST00000335211 human ensembl 74_37 +1 known missense c.9788 p.A3263V 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGFN1 HGNC ENSG00000163395 47 0 0 81 10 10.989 KDM5B 0 genome.wustl.edu 37 1 202718153 202718153 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 202718153 202718153 C T SNP KDM5B ENST00000367264 human ensembl 74_37 -1 known missense c.2044 p.V682I 1.000 NULL 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 KDM5B HGNC ENSG00000117139 127 0 0 181 73 28.7402 FMOD 0 genome.wustl.edu 37 1 203316893 203316893 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 203316893 203316893 C T SNP FMOD ENST00000354955 human ensembl 74_37 -1 known missense c.506 p.R169Q 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors FMOD HGNC ENSG00000122176 253 0 0 388 62 13.7778 ZC3H11A 0 genome.wustl.edu 37 1 203798998 203798998 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 203798998 203798998 G A SNP ZC3H11A ENST00000332127 human ensembl 74_37 +1 known missense c.593 p.R198Q 1.000 NULL smart_Znf_CCCH - no_errors ZC3H11A HGNC ENSG00000058673 53 0 0 27 63 70 REN 0 genome.wustl.edu 37 1 204124992 204124992 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 204124992 204124992 C T SNP REN ENST00000272190 human ensembl 74_37 -1 known missense c.1015 p.G339R 0.997 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors REN HGNC ENSG00000143839 52 0 0 57 12 17.3913 LRRN2 0 genome.wustl.edu 37 1 204587238 204587238 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 204587238 204587238 C T SNP LRRN2 ENST00000367175 human ensembl 74_37 -1 known missense c.1883 p.R628H 0.063 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRN2 HGNC ENSG00000170382 54 0 0 24 74 75.5102 CNTN2 0 genome.wustl.edu 37 1 205034949 205034949 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 205034949 205034949 C T SNP CNTN2 ENST00000331830 human ensembl 74_37 +1 known silent c.1728 p.N576 0.221 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN2 HGNC ENSG00000184144 66 0 0 120 11 8.39695 DSTYK 0 genome.wustl.edu 37 1 205131330 205131330 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 205131330 205131330 C T SNP DSTYK ENST00000367162 human ensembl 74_37 -1 known missense c.1652 p.R551H 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 DSTYK HGNC ENSG00000133059 38 0 0 68 9 11.6883 SLC45A3 0 genome.wustl.edu 37 1 205632102 205632102 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 205632102 205632102 G A SNP SLC45A3 ENST00000367145 human ensembl 74_37 -1 known missense c.817 p.R273W 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A3 HGNC ENSG00000158715 70 0 0 113 32 22.069 NUCKS1 0 genome.wustl.edu 37 1 205687569 205687569 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 205687569 205687569 G A SNP NUCKS1 ENST00000367142 human ensembl 74_37 -1 known missense c.571 p.R191C 1.000 NULL NULL - no_errors NUCKS1 HGNC ENSG00000069275 513 0 0 798 107 11.8232 SLC26A9 0 genome.wustl.edu 37 1 205890727 205890727 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 205890727 205890727 G A SNP SLC26A9 ENST00000340781 human ensembl 74_37 -1 known silent c.2022 p.F674 1.000 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A9 HGNC ENSG00000174502 30 0 0 37 4 9.7561 C1orf116 0 genome.wustl.edu 37 1 207196179 207196179 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 207196179 207196179 G A SNP C1orf116 ENST00000359470 human ensembl 74_37 -1 known silent c.930 p.S310 0.981 NULL NULL - no_errors C1orf116 HGNC ENSG00000182795 88 0 0 57 135 70.3125 CR2 0 genome.wustl.edu 37 1 207647066 207647066 + Nonsense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 207647066 207647066 G T SNP CR2 ENST00000367057 human ensembl 74_37 +1 known nonsense c.2155 p.E719* 0.972 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 250 1 0.398406 335 100 22.9885 KIF17 0 genome.wustl.edu 37 1 20998611 20998611 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 20998611 20998611 G A SNP KIF17 ENST00000247986 human ensembl 74_37 -1 known missense c.2542 p.R848C 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF17 HGNC ENSG00000117245 49 0 0 24 17 41.4634 KCNH1 0 genome.wustl.edu 37 1 210971061 210971061 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 210971061 210971061 G A SNP KCNH1 ENST00000271751 human ensembl 74_37 -1 known silent c.1704 p.C568 0.799 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 79 0 0 111 14 11.2 EIF4G3 0 genome.wustl.edu 37 1 21186948 21186948 + Missense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 21186948 21186948 C A SNP EIF4G3 ENST00000374937 human ensembl 74_37 -1 known missense c.3024 p.E1008D 0.991 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G3 HGNC ENSG00000075151 168 0 0 109 93 46.0396 DTL 0 genome.wustl.edu 37 1 212274406 212274406 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 212274406 212274406 G A SNP DTL ENST00000366991 human ensembl 74_37 +1 known missense c.2074 p.G692R 0.947 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DTL HGNC ENSG00000143476 38 0 0 63 8 11.2676 FAM71A 0 genome.wustl.edu 37 1 212799662 212799662 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 212799662 212799662 G A SNP FAM71A ENST00000294829 human ensembl 74_37 +1 known silent c.1443 p.P481 0.000 NULL pfam_DUF3699 - no_errors FAM71A HGNC ENSG00000162771 135 0 0 200 29 12.6638 PROX1 0 genome.wustl.edu 37 1 214171008 214171008 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 214171008 214171008 G A SNP PROX1 ENST00000261454 human ensembl 74_37 +1 known missense c.1130 p.R377H 1.000 pfam_Homeo_prospero_dom pfam_Homeo_prospero_dom,superfamily_Homeodomain-like - no_errors PROX1 HGNC ENSG00000117707 144 0 0 78 173 68.9243 USH2A 0 genome.wustl.edu 37 1 215848809 215848809 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 215848809 215848809 C T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known silent c.12444 p.L4148 0.072 pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 76 0 0 93 17 15.4545 USH2A 0 genome.wustl.edu 37 1 216073535 216073535 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 216073535 216073535 C T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known silent c.7476 p.S2492 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 81 0 0 124 16 11.4286 USH2A 0 genome.wustl.edu 37 1 216144000 216144000 + Silent SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 216144000 216144000 T C SNP USH2A ENST00000366943 human ensembl 74_37 -1 known silent c.6924 p.A2308 0.485 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 89 0 0 131 16 10.8844 RAB3GAP2 0 genome.wustl.edu 37 1 220356238 220356238 + Silent SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 220356238 220356238 T C SNP RAB3GAP2 ENST00000358951 human ensembl 74_37 -1 known silent c.2034 p.E678 0.463 NULL superfamily_WD40_repeat_dom - no_errors RAB3GAP2 HGNC ENSG00000118873 60 0 0 87 12 12.1212 RAB3GAP2 0 genome.wustl.edu 37 1 220406197 220406197 + Missense_Mutation SNP T T A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 220406197 220406197 T A SNP RAB3GAP2 ENST00000358951 human ensembl 74_37 -1 known missense c.124 p.T42S 0.989 NULL superfamily_WD40_repeat_dom - no_errors RAB3GAP2 HGNC ENSG00000118873 122 0 0 222 27 10.8434 HSPG2 0 genome.wustl.edu 37 1 22169274 22169274 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 22169274 22169274 C T SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.8899 p.A2967T 0.846 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 105 0 0 82 30 26.7857 DEGS1 0 genome.wustl.edu 37 1 224377351 224377351 + Missense_Mutation SNP T T A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 224377351 224377351 T A SNP DEGS1 ENST00000323699 human ensembl 74_37 +1 known missense c.155 p.L52H 0.007 pirsf_Sphingolipid_d4-desaturase pfam_Fatty_acid_desaturase-1,pfam_Sphingolipid_d4-desaturase_N,pirsf_Sphingolipid_d4-desaturase - no_errors DEGS1 HGNC ENSG00000143753 214 0 0 282 31 9.90415 PARP1 0 genome.wustl.edu 37 1 226568804 226568804 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 226568804 226568804 G A SNP PARP1 ENST00000366794 human ensembl 74_37 -1 known missense c.1265 p.T422M 0.852 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pirsf_NAD_ADPRT,pfscan_BRCT_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_Znf_PARP,pfam_PADR1,pfam_WGR_domain,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_WGR_domain,pirsf_NAD_ADPRT,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP1 HGNC ENSG00000143799 87 0 0 142 14 8.97436 OBSCN 0 genome.wustl.edu 37 1 228475407 228475407 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 228475407 228475407 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.9557 p.R3186Q 0.000 pfam_Ig_I-set,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 52 0 0 22 65 74.7126 OBSCN 0 genome.wustl.edu 37 1 228562445 228562445 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 228562445 228562445 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.22655 p.R7552Q 0.974 superfamily_Fibronectin_type3,smart_Ig_sub,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 38 0 0 19 35 64.8148 HIST3H3 0 genome.wustl.edu 37 1 228612739 228612739 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 228612739 228612739 C T SNP HIST3H3 ENST00000366696 human ensembl 74_37 -1 known silent c.288 p.A96 0.686 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST3H3 HGNC ENSG00000168148 108 0 0 56 159 73.9535 ABCB10 0 genome.wustl.edu 37 1 229666124 229666124 + Missense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 229666124 229666124 C A SNP ABCB10 ENST00000344517 human ensembl 74_37 -1 known missense c.1467 p.Q489H 1.000 NULL 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 ABCB10 HGNC ENSG00000135776 234 0 0 374 47 11.1639 C1QC 0 genome.wustl.edu 37 1 22974271 22974271 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 22974271 22974271 G A SNP C1QC ENST00000374637 human ensembl 74_37 +1 known missense c.733 p.D245N 0.930 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 C1QC HGNC ENSG00000159189 72 0 0 58 17 22.6667 COG2 0 genome.wustl.edu 37 1 230805169 230805169 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 230805169 230805169 C T SNP COG2 ENST00000366669 human ensembl 74_37 +1 known missense c.662 p.T221M 1.000 NULL pfam_COG_complex_COG2_C,pfam_COG_su2_N - no_errors COG2 HGNC ENSG00000135775 135 0 0 184 24 11.5385 SIPA1L2 0 genome.wustl.edu 37 1 232579380 232579380 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 232579380 232579380 G A SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known silent c.3405 p.S1135 0.958 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 111 0 0 195 24 10.9589 SIPA1L2 0 genome.wustl.edu 37 1 232619595 232619595 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 232619595 232619595 C T SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known missense c.1924 p.G642S 1.000 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 108 0 0 178 44 19.8198 TARBP1 0 genome.wustl.edu 37 1 234565961 234565961 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 234565961 234565961 C T SNP TARBP1 ENST00000040877 human ensembl 74_37 -1 novel silent c.2481 p.E827 0.000 NULL pfam_SpoU_MeTrfase,superfamily_ARM-type_fold - no_errors TARBP1 HGNC ENSG00000059588 137 0 0 253 22 8 ARID4B 0 genome.wustl.edu 37 1 235386558 235386558 + Nonsense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 235386558 235386558 G A SNP ARID4B ENST00000264183 human ensembl 74_37 -1 known nonsense c.988 p.R330* 1.000 pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd 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 46 0 0 56 7 11.1111 LYST 0 genome.wustl.edu 37 1 235860532 235860532 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 235860532 235860532 T C SNP LYST ENST00000389793 human ensembl 74_37 -1 known missense c.10415 p.Y3472C 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 89 0 0 149 18 10.7784 NID1 0 genome.wustl.edu 37 1 236145041 236145041 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 236145041 236145041 G A SNP NID1 ENST00000264187 human ensembl 74_37 -1 known missense c.3097 p.R1033C 1.000 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID1 HGNC ENSG00000116962 96 0 0 41 103 71.5278 NID1 0 genome.wustl.edu 37 1 236180546 236180546 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 236180546 236180546 G A SNP NID1 ENST00000264187 human ensembl 74_37 -1 known missense c.2156 p.S719L 0.014 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID1 HGNC ENSG00000116962 181 0 0 280 42 13.0435 ERO1LB 0 genome.wustl.edu 37 1 236384168 236384168 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 236384168 236384168 C T SNP ERO1LB ENST00000354619 human ensembl 74_37 -1 known missense c.1307 p.R436Q 1.000 pfam_Ero1,pirsf_Ero1 pfam_Ero1,pirsf_Ero1 - no_errors ERO1LB HGNC ENSG00000086619 129 0 0 60 125 67.5676 EDARADD 0 genome.wustl.edu 37 1 236645868 236645868 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 236645868 236645868 C T SNP EDARADD ENST00000334232 human ensembl 74_37 +1 known silent c.567 p.A189 0.775 pfam_Death_domain,superfamily_DEATH-like_dom pfam_Death_domain,superfamily_DEATH-like_dom - no_errors EDARADD HGNC ENSG00000186197 138 0 0 319 30 8.59599 ACTN2 0 genome.wustl.edu 37 1 236907965 236907965 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 236907965 236907965 C T SNP ACTN2 ENST00000366578 human ensembl 74_37 +1 known missense c.1295 p.A432V 0.994 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN2 HGNC ENSG00000077522 42 0 0 82 12 12.766 ASAP3 0 genome.wustl.edu 37 1 23763747 23763747 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 23763747 23763747 G A SNP ASAP3 ENST00000336689 human ensembl 74_37 -1 known silent c.1218 p.S406 0.005 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ASAP3 HGNC ENSG00000088280 17 0 0 6 3 33.3333 RYR2 0 genome.wustl.edu 37 1 237713941 237713941 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 237713941 237713941 G A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.3158 p.R1053H 1.000 pfam_Ryanodine_rcpt,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,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 15 0 0 15 5 25 RYR2 0 genome.wustl.edu 37 1 237754062 237754062 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 237754062 237754062 C T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known silent c.3924 p.C1308 0.954 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 210 0 0 334 44 11.6402 CHRM3 0 genome.wustl.edu 37 1 240070844 240070844 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 240070844 240070844 G A SNP CHRM3 ENST00000255380 human ensembl 74_37 +1 known silent c.93 p.P31 0.655 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M3_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM3 HGNC ENSG00000133019 138 0 0 75 145 65.9091 MYOM3 0 genome.wustl.edu 37 1 24390570 24390570 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 24390570 24390570 G A SNP MYOM3 ENST00000330966 human ensembl 74_37 -1 known missense c.3623 p.T1208M 0.437 smart_Ig_sub,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM3 HGNC ENSG00000142661 125 0 0 81 31 27.6786 MYOM3 0 genome.wustl.edu 37 1 24413139 24413139 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 24413139 24413139 G A SNP MYOM3 ENST00000330966 human ensembl 74_37 -1 known missense c.1796 p.P599L 0.008 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM3 HGNC ENSG00000142661 54 0 0 28 27 49.0909 C1orf101 0 genome.wustl.edu 37 1 244756729 244756729 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 244756729 244756729 T C SNP C1orf101 ENST00000366531 human ensembl 74_37 +1 known missense c.1769 p.L590S 0.993 NULL NULL - no_errors C1orf101 HGNC ENSG00000179397 153 0 0 163 83 33.7398 PANK4 0 genome.wustl.edu 37 1 2452733 2452733 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 2452733 2452733 G A SNP PANK4 ENST00000378466 human ensembl 74_37 -1 known missense c.229 p.P77S 1.000 pfam_Type_II_PanK,pirsf_PanK_long,tigrfam_Type_II_PanK pfam_Type_II_PanK,pfam_DUF89,superfamily_DUF89,pirsf_PanK_long,tigrfam_Type_II_PanK - no_errors PANK4 HGNC ENSG00000157881 159 0 0 122 31 20.2614 KIF26B 0 genome.wustl.edu 37 1 245775157 245775157 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 245775157 245775157 C T SNP KIF26B ENST00000407071 human ensembl 74_37 +1 known silent c.1977 p.A659 0.029 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 KIF26B HGNC ENSG00000162849 41 0 0 27 61 69.3182 KIF26B 0 genome.wustl.edu 37 1 245848859 245848859 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 245848859 245848859 C T SNP KIF26B ENST00000407071 human ensembl 74_37 +1 known silent c.2574 p.S858 0.942 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 48 0 0 23 54 70.1299 KIF26B 0 genome.wustl.edu 37 1 245848905 245848905 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 245848905 245848905 G A SNP KIF26B ENST00000407071 human ensembl 74_37 +1 known missense c.2620 p.A874T 0.997 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 36 0 0 39 21 35 OR6F1 0 genome.wustl.edu 37 1 247875749 247875749 + Missense_Mutation SNP A A C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 247875749 247875749 A C SNP OR6F1 ENST00000302084 human ensembl 74_37 -1 known missense c.309 p.F103L 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 OR6F1 HGNC ENSG00000169214 76 0 0 136 15 9.93377 OR2T1 0 genome.wustl.edu 37 1 248570229 248570229 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 248570229 248570229 C T SNP OR2T1 ENST00000366474 human ensembl 74_37 +1 known missense c.934 p.P312S 0.984 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T1 HGNC ENSG00000175143 181 0 0 320 41 11.3573 OR2T1 0 genome.wustl.edu 37 1 248570402 248570402 + Silent SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 248570402 248570402 T C SNP OR2T1 ENST00000366474 human ensembl 74_37 +1 known silent c.1107 p.F369 0.007 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T1 HGNC ENSG00000175143 181 0 0 325 54 14.248 ZNF672 0 genome.wustl.edu 37 1 249142111 249142111 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 249142111 249142111 C T SNP ZNF672 ENST00000306562 human ensembl 74_37 +1 known missense c.638 p.T213M 0.030 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF672 HGNC ENSG00000171161 8 0 0 4 14 77.7778 PGBD2 0 genome.wustl.edu 37 1 249212032 249212032 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 249212032 249212032 A G SNP PGBD2 ENST00000329291 human ensembl 74_37 +1 known missense c.1249 p.S417G 0.060 NULL NULL - no_errors PGBD2 HGNC ENSG00000185220 80 0 0 106 42 28.3784 SEPN1 0 genome.wustl.edu 37 1 26140434 26140434 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 26140434 26140434 G A SNP SEPN1 ENST00000354177 human ensembl 74_37 +1 known missense c.1348 p.E450K 1.000 NULL pfscan_EF_hand_dom - no_errors SEPN1 HGNC ENSG00000162430 116 0 0 97 34 25.9542 ZNF683 0 genome.wustl.edu 37 1 26691418 26691418 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 26691418 26691418 T C SNP ZNF683 ENST00000403843 human ensembl 74_37 -1 known missense c.619 p.T207A 0.002 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF683 HGNC ENSG00000176083 56 0 0 59 15 20.2703 SLC9A1 0 genome.wustl.edu 37 1 27428295 27428295 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 27428295 27428295 G A SNP SLC9A1 ENST00000263980 human ensembl 74_37 -1 known missense c.1958 p.T653M 1.000 tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_1,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A1 HGNC ENSG00000090020 28 0 0 17 9 34.6154 WDTC1 0 genome.wustl.edu 37 1 27620579 27620579 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 27620579 27620579 G A SNP WDTC1 ENST00000319394 human ensembl 74_37 +1 known silent c.729 p.P243 0.109 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDTC1 HGNC ENSG00000142784 107 0 0 59 37 38.5417 AHDC1 0 genome.wustl.edu 37 1 27873887 27873887 + Silent SNP G G C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 27873887 27873887 G C SNP AHDC1 ENST00000247087 human ensembl 74_37 -1 known silent c.4740 p.G1580 1.000 NULL NULL - no_errors AHDC1 HGNC ENSG00000126705 200 0 0 108 95 46.798 FGR 0 genome.wustl.edu 37 1 27943412 27943412 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 27943412 27943412 C T SNP FGR ENST00000374003 human ensembl 74_37 -1 known missense c.638 p.R213Q 0.996 pfam_SH2,smart_SH2,pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors FGR HGNC ENSG00000000938 179 0 0 110 29 20.8633 YTHDF2 0 genome.wustl.edu 37 1 29069723 29069723 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 29069723 29069723 G A SNP YTHDF2 ENST00000373812 human ensembl 74_37 +1 known missense c.941 p.S314N 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDF2 HGNC ENSG00000198492 96 0 0 45 40 47.0588 TINAGL1 0 genome.wustl.edu 37 1 32050770 32050770 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 32050770 32050770 C T SNP TINAGL1 ENST00000271064 human ensembl 74_37 +1 known silent c.876 p.C292 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom - no_errors TINAGL1 HGNC ENSG00000142910 178 0 0 158 37 18.9744 DCDC2B 0 genome.wustl.edu 37 1 32678164 32678164 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 32678164 32678164 G A SNP DCDC2B ENST00000409358 human ensembl 74_37 +1 known missense c.601 p.G201R 0.998 pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors DCDC2B HGNC ENSG00000222046 72 0 0 37 51 57.9545 FAM167B 0 genome.wustl.edu 37 1 32713256 32713256 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 32713256 32713256 C T SNP FAM167B ENST00000373582 human ensembl 74_37 +1 known silent c.234 p.S78 0.747 NULL pfam_FAM167 - no_errors FAM167B HGNC ENSG00000183615 70 0 0 53 45 45.9184 KIAA1522 0 genome.wustl.edu 37 1 33235544 33235544 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 33235544 33235544 G A SNP KIAA1522 ENST00000401073 human ensembl 74_37 +1 known missense c.764 p.R255H 0.500 NULL NULL - no_errors KIAA1522 HGNC ENSG00000162522 44 0 0 24 3 11.1111 S100PBP 0 genome.wustl.edu 37 1 33291743 33291743 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 33291743 33291743 T C SNP S100PBP ENST00000373475 human ensembl 74_37 +1 known missense c.43 p.S15P 0.912 NULL NULL - no_errors S100PBP HGNC ENSG00000116497 212 0 0 127 30 19.1083 PRDM16 0 genome.wustl.edu 37 1 3348572 3348572 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 3348572 3348572 G A SNP PRDM16 ENST00000270722 human ensembl 74_37 +1 known silent c.3564 p.P1188 1.000 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 77 0 0 60 20 25 CSMD2 0 genome.wustl.edu 37 1 34204903 34204903 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 34204903 34204903 C T SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.2206 p.V736I 0.999 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 124 0 0 52 40 43.4783 ZMYM4 0 genome.wustl.edu 37 1 35862182 35862182 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 35862182 35862182 G A SNP ZMYM4 ENST00000314607 human ensembl 74_37 +1 known missense c.2941 p.V981M 0.769 NULL pfam_DUF3504,pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM4 HGNC ENSG00000146463 173 0 0 100 68 40.4762 COL8A2 0 genome.wustl.edu 37 1 36563271 36563271 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 36563271 36563271 C T SNP COL8A2 ENST00000303143 human ensembl 74_37 -1 known missense c.2011 p.D671N 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A2 HGNC ENSG00000171812 114 0 0 42 52 55.3191 LRRC47 0 genome.wustl.edu 37 1 3703793 3703793 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 3703793 3703793 G A SNP LRRC47 ENST00000378251 human ensembl 74_37 -1 known missense c.697 p.R233C 0.364 NULL pfam_Leu-rich_rpt,pfam_B3/B4_tRNA-bd,smart_Leu-rich_rpt_typical-subtyp,smart_B3/B4_tRNA-bd - no_errors LRRC47 HGNC ENSG00000130764 83 0 0 43 19 30.6452 CEP104 0 genome.wustl.edu 37 1 3751488 3751488 + Splice_Site SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 3751488 3751488 C T SNP CEP104 ENST00000378230 human ensembl 74_37 -1 known splice_site c.1485+1 e10+1 1.000 - - - no_errors CEP104 HGNC ENSG00000116198 19 0 0 12 3 20 HIVEP3 0 genome.wustl.edu 37 1 41978718 41978718 + Silent SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 41978718 41978718 G T SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known silent c.6174 p.T2058 0.017 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 62 0 0 60 21 25.9259 HIVEP3 0 genome.wustl.edu 37 1 42048026 42048026 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 42048026 42048026 G A SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known missense c.2443 p.P815S 0.215 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 126 0 0 89 40 31.0078 LEPRE1 0 genome.wustl.edu 37 1 43221293 43221293 + Nonsense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 43221293 43221293 G A SNP LEPRE1 ENST00000236040 human ensembl 74_37 -1 known nonsense c.1096 p.R366* 0.999 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPRE1 HGNC ENSG00000117385 79 0 0 58 14 19.4444 TIE1 0 genome.wustl.edu 37 1 43772887 43772887 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 43772887 43772887 G A SNP TIE1 ENST00000372476 human ensembl 74_37 +1 known missense c.715 p.D239N 0.995 smart_EG-like_dom,pfscan_EG-like_dom 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 101 0 0 59 23 28.0488 ERI3 0 genome.wustl.edu 37 1 44774067 44774067 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 44774067 44774067 C T SNP ERI3 ENST00000372257 human ensembl 74_37 -1 known missense c.673 p.D225N 1.000 pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors ERI3 HGNC ENSG00000117419 325 0 0 219 67 23.4266 MUTYH 0 genome.wustl.edu 37 1 45797863 45797863 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 45797863 45797863 T C SNP MUTYH ENST00000450313 human ensembl 74_37 -1 known missense c.908 p.E303G 0.686 superfamily_DNA_glycosylase,smart_Endouclease3_FeS-loop_motif pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,superfamily_NUDIX_hydrolase_dom-like,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif - no_errors MUTYH HGNC ENSG00000132781 64 0 0 52 21 28.7671 MAST2 0 genome.wustl.edu 37 1 46496912 46496912 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 46496912 46496912 G A SNP MAST2 ENST00000361297 human ensembl 74_37 +1 known missense c.2942 p.R981Q 0.016 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST2 HGNC ENSG00000086015 52 0 0 47 22 31.8841 UQCRH 0 genome.wustl.edu 37 1 46769468 46769468 + Silent SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 46769468 46769468 T C SNP UQCRH ENST00000311672 human ensembl 74_37 +1 known silent c.30 p.L10 0.998 NULL pfam_Ubol_cytC_Rdtase_hinge_dom,superfamily_Ubol_cytC_Rdtase_hinge_dom - no_errors UQCRH HGNC ENSG00000173660 30 0 0 28 25 47.1698 DMBX1 0 genome.wustl.edu 37 1 46977889 46977889 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 46977889 46977889 C T SNP DMBX1 ENST00000371956 human ensembl 74_37 +1 known missense c.872 p.P291L 0.909 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors DMBX1 HGNC ENSG00000197587 73 0 0 39 27 40.9091 SLC5A9 0 genome.wustl.edu 37 1 48701512 48701512 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 48701512 48701512 G A SNP SLC5A9 ENST00000236495 human ensembl 74_37 +1 known missense c.1328 p.R443H 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A9 HGNC ENSG00000117834 88 0 0 76 14 15.5556 BEND5 0 genome.wustl.edu 37 1 49208332 49208332 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 49208332 49208332 G A SNP BEND5 ENST00000371833 human ensembl 74_37 -1 known missense c.857 p.A286V 0.997 NULL pfam_BEN_domain - no_errors BEND5 HGNC ENSG00000162373 133 0 0 107 33 23.5714 OSBPL9 0 genome.wustl.edu 37 1 52238348 52238348 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 52238348 52238348 A G SNP OSBPL9 ENST00000371710 human ensembl 74_37 +1 known missense c.1177 p.I393V 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL9 HGNC ENSG00000117859 220 0 0 163 36 18.0905 C1orf123 0 genome.wustl.edu 37 1 53680369 53680369 + Nonsense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 53680369 53680369 C A SNP C1orf123 ENST00000294360 human ensembl 74_37 -1 known nonsense c.445 p.G149* 1.000 pfam_DUF866_euk pfam_DUF866_euk - no_errors C1orf123 HGNC ENSG00000162384 36 0 0 29 21 42 MROH7-TTC4 0 genome.wustl.edu 37 1 55161148 55161148 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 55161148 55161148 C T SNP MROH7-TTC4 ENST00000414150 human ensembl 74_37 +1 known silent c.2949 p.T983 0.733 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH7-TTC4 HGNC ENSG00000271723 19 0 0 23 14 37.8378 KCNAB2 0 genome.wustl.edu 37 1 6100692 6100692 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 6100692 6100692 G A SNP KCNAB2 ENST00000164247 human ensembl 74_37 +1 known missense c.64 p.G22R 0.998 prints_K_chnl_volt-dep_bsu_KCNAB2 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB2,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB - no_errors KCNAB2 HGNC ENSG00000069424 65 0 0 25 32 56.1404 HES3 0 genome.wustl.edu 37 1 6304653 6304653 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 6304653 6304653 G A SNP HES3 ENST00000377898 human ensembl 74_37 +1 known missense c.127 p.V43M 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors HES3 HGNC ENSG00000173673 28 0 0 25 12 32.4324 RAVER2 0 genome.wustl.edu 37 1 65243477 65243477 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 65243477 65243477 G A SNP RAVER2 ENST00000294428 human ensembl 74_37 +1 known missense c.488 p.R163H 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RAVER2 HGNC ENSG00000162437 297 0 0 150 91 37.7593 LEPR 0 genome.wustl.edu 37 1 66074549 66074549 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 66074549 66074549 C T SNP LEPR ENST00000349533 human ensembl 74_37 +1 known missense c.1717 p.R573C 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_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 104 0 0 50 53 51.4563 TAS1R1 0 genome.wustl.edu 37 1 6637065 6637065 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 6637065 6637065 C T SNP TAS1R1 ENST00000333172 human ensembl 74_37 +1 known missense c.1529 p.T510M 0.000 pfam_GPCR_3_9-Cys_dom 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 TAS1R1 HGNC ENSG00000173662 64 0 0 47 13 21.6667 C1orf173 0 genome.wustl.edu 37 1 75038567 75038567 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 75038567 75038567 C T SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known missense c.2827 p.G943R 0.000 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 204 0 0 90 85 48.5714 CAMTA1 0 genome.wustl.edu 37 1 7811299 7811299 + Missense_Mutation SNP T T A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 7811299 7811299 T A SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known missense c.4730 p.I1577N 1.000 pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS 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 453 0 0 286 215 42.9142 PER3 0 genome.wustl.edu 37 1 7844974 7844974 + Missense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 7844974 7844974 G T SNP PER3 ENST00000361923 human ensembl 74_37 +1 known missense c.37 p.G13W 0.000 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER3 HGNC ENSG00000049246 32 0 0 17 10 37.037 UTS2 0 genome.wustl.edu 37 1 7907911 7907911 + Missense_Mutation SNP A A C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 7907911 7907911 A C SNP UTS2 ENST00000054668 human ensembl 74_37 -1 known missense c.335 p.I112S 0.000 NULL pfam_Urotensin_II - no_errors UTS2 HGNC ENSG00000049247 144 0 0 94 30 24.1935 SLC45A1 0 genome.wustl.edu 37 1 8390765 8390765 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 8390765 8390765 C T SNP SLC45A1 ENST00000377479 human ensembl 74_37 +1 known silent c.1314 p.F438 1.000 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A1 HGNC ENSG00000162426 49 0 0 30 23 43.3962 RERE 0 genome.wustl.edu 37 1 8418812 8418812 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 8418812 8418812 C T SNP RERE ENST00000337907 human ensembl 74_37 -1 known silent c.3783 p.R1261 0.955 pfam_Atrophin-like pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC ENSG00000142599 109 0 0 69 51 42.5 RERE 0 genome.wustl.edu 37 1 8418948 8418948 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 8418948 8418948 C T SNP RERE ENST00000337907 human ensembl 74_37 -1 known missense c.3647 p.R1216H 1.000 pfam_Atrophin-like pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC ENSG00000142599 139 0 0 71 60 45.8015 ENO1 0 genome.wustl.edu 37 1 8927208 8927208 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 8927208 8927208 C T SNP ENO1 ENST00000234590 human ensembl 74_37 -1 known missense c.412 p.A138T 1.000 pirsf_Enolase,tigrfam_Enolase pfam_Enolase_C,pfam_Enolase_N,pirsf_Enolase,prints_Enolase,tigrfam_Enolase - no_errors ENO1 HGNC ENSG00000074800 59 0 0 47 8 14.5455 PKN2 0 genome.wustl.edu 37 1 89298837 89298837 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 89298837 89298837 C T SNP PKN2 ENST00000370521 human ensembl 74_37 +1 known silent c.2748 p.F916 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom 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_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN2 HGNC ENSG00000065243 55 0 0 28 11 28.2051 RBMXL1 0 genome.wustl.edu 37 1 89449493 89449493 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 89449493 89449493 C T SNP RBMXL1 ENST00000321792 human ensembl 74_37 -1 known missense c.17 p.R6H 1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL1 HGNC ENSG00000213516 310 0 0 179 108 37.6307 PLEKHN1 0 genome.wustl.edu 37 1 905733 905733 + Missense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 905733 905733 G T SNP PLEKHN1 ENST00000379409 human ensembl 74_37 +1 known missense c.260 p.R87M 0.972 NULL smart_Pleckstrin_homology - no_errors PLEKHN1 HGNC ENSG00000187583 62 0 0 62 11 15.0685 PLEKHN1 0 genome.wustl.edu 37 1 906784 906784 + Missense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 906784 906784 G T SNP PLEKHN1 ENST00000379409 human ensembl 74_37 +1 known missense c.945 p.K315N 1.000 smart_Pleckstrin_homology smart_Pleckstrin_homology - no_errors PLEKHN1 HGNC ENSG00000187583 10 0 0 2 3 60 SLC2A5 0 genome.wustl.edu 37 1 9107748 9107748 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 9107748 9107748 C T SNP SLC2A5 ENST00000377424 human ensembl 74_37 -1 known silent c.339 p.A113 0.005 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Fru_transpt_5,tigrfam_Sugar/inositol_transpt - no_errors SLC2A5 HGNC ENSG00000142583 187 1 0.531915 145 41 22.043 HFM1 0 genome.wustl.edu 37 1 91728052 91728052 + Nonsense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 91728052 91728052 C A SNP HFM1 ENST00000370425 human ensembl 74_37 -1 known nonsense c.4072 p.G1358* 0.986 NULL 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 172 0 0 75 50 40 CDC7 0 genome.wustl.edu 37 1 91989636 91989636 + Missense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 91989636 91989636 G T SNP CDC7 ENST00000234626 human ensembl 74_37 +1 known missense c.1369 p.D457Y 1.000 pfam_Prot_kinase_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,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDC7 HGNC ENSG00000097046 145 0 0 73 24 24.7423 H6PD 0 genome.wustl.edu 37 1 9305383 9305383 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 9305383 9305383 C T SNP H6PD ENST00000377403 human ensembl 74_37 +1 known silent c.390 p.H130 0.046 pfam_G6P_DH_NAD-bd pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,prints_G6P_DH,tigrfam_6-phosphogluconolactonase_DevB - no_errors H6PD HGNC ENSG00000049239 164 0 0 120 34 22.0779 CCDC18 0 genome.wustl.edu 37 1 93680390 93680390 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 93680390 93680390 G A SNP CCDC18 ENST00000557479 human ensembl 74_37 +1 known missense c.1940 p.R647H 0.970 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC18 HGNC ENSG00000122483 42 0 0 29 5 14.7059 DPYD 0 genome.wustl.edu 37 1 98058844 98058844 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 98058844 98058844 C T SNP DPYD ENST00000370192 human ensembl 74_37 -1 known missense c.1058 p.R353H 0.981 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH - no_errors DPYD HGNC ENSG00000188641 145 0 0 87 65 42.7632 PDZD7 0 genome.wustl.edu 37 10 102782103 102782103 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 102782103 102782103 G A SNP PDZD7 ENST00000370215 human ensembl 74_37 -1 known silent c.582 p.C194 0.990 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD7 HGNC ENSG00000186862 42 0 0 30 22 42.3077 LBX1 0 genome.wustl.edu 37 10 102988373 102988373 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 102988373 102988373 G A SNP LBX1 ENST00000370193 human ensembl 74_37 -1 known missense c.200 p.A67V 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors LBX1 HGNC ENSG00000138136 13 0 0 3 5 62.5 NOLC1 0 genome.wustl.edu 37 10 103919661 103919661 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 103919661 103919661 A G SNP NOLC1 ENST00000405356 human ensembl 74_37 +1 known missense c.898 p.S300G 1.000 NULL pfam_SRP40_C,pfscan_LisH_dimerisation - no_errors NOLC1 HGNC ENSG00000166197 23 0 0 10 5 33.3333 TRIM8 0 genome.wustl.edu 37 10 104416970 104416970 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 104416970 104416970 G A SNP TRIM8 ENST00000302424 human ensembl 74_37 +1 known silent c.1515 p.P505 0.954 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors TRIM8 HGNC ENSG00000171206 55 0 0 35 12 25.5319 PDCD11 0 genome.wustl.edu 37 10 105178301 105178301 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 105178301 105178301 C T SNP PDCD11 ENST00000369797 human ensembl 74_37 +1 known silent c.2016 p.H672 0.267 superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 96 0 0 33 45 57.6923 NEURL 0 genome.wustl.edu 37 10 105331561 105331561 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 105331561 105331561 C T SNP NEURL ENST00000369780 human ensembl 74_37 +1 known missense c.631 p.R211W 0.810 pfscan_Neu_Z pfam_Neu_Z,smart_Neu_Z,pfscan_Neu_Z,pfscan_Znf_RING - no_errors NEURL HGNC ENSG00000107954 43 0 0 24 12 33.3333 TACC2 0 genome.wustl.edu 37 10 123996964 123996964 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 123996964 123996964 C T SNP TACC2 ENST00000334433 human ensembl 74_37 +1 known missense c.8182 p.R2728C 1.000 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 45 0 0 10 21 67.7419 C10orf137 0 genome.wustl.edu 37 10 127442350 127442350 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 127442350 127442350 T C SNP C10orf137 ENST00000356792 human ensembl 74_37 +1 known missense c.3481 p.S1161P 1.000 NULL NULL - no_errors C10orf137 HGNC ENSG00000107938 119 0 0 60 27 31.0345 MKI67 0 genome.wustl.edu 37 10 129910073 129910073 + Missense_Mutation SNP A A T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 129910073 129910073 A T SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known missense c.2096 p.V699E 0.000 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 172 0 0 36 85 70.2479 MCM10 0 genome.wustl.edu 37 10 13213236 13213236 + Nonsense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 13213236 13213236 C T SNP MCM10 ENST00000484800 human ensembl 74_37 +1 known nonsense c.322 p.R108* 0.015 NULL pfam_Rep_factor_Mcm10,pfam_Znf_Mcm10/DnaG - no_errors MCM10 HGNC ENSG00000065328 52 0 0 28 14 33.3333 LRRC27 0 genome.wustl.edu 37 10 134161674 134161674 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 134161674 134161674 C T SNP LRRC27 ENST00000368613 human ensembl 74_37 +1 known missense c.740 p.A247V 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC27 HGNC ENSG00000148814 95 0 0 38 18 32.1429 CUBN 0 genome.wustl.edu 37 10 16918974 16918974 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 16918974 16918974 C T SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.9028 p.A3010T 0.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 99 0 0 81 30 27.027 CUBN 0 genome.wustl.edu 37 10 16941114 16941114 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 16941114 16941114 C T SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.8479 p.E2827K 0.679 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 147 0 0 113 70 38.2514 CACNB2 0 genome.wustl.edu 37 10 18690886 18690886 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 18690886 18690886 G A SNP CACNB2 ENST00000324631 human ensembl 74_37 +1 known missense c.247 p.D83N 1.000 pfam_VDCC_L_bsu pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b2su - no_errors CACNB2 HGNC ENSG00000165995 77 0 0 54 32 37.2093 NSUN6 0 genome.wustl.edu 37 10 18834977 18834977 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 18834977 18834977 G A SNP NSUN6 ENST00000377304 human ensembl 74_37 -1 known missense c.1295 p.P432L 0.000 NULL pfam_Fmu/NOL1/Nop2p,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_PUA,superfamily_PUA-like_domain,pfscan_PUA,prints_RCMT - no_errors NSUN6 HGNC ENSG00000241058 266 0 0 184 121 39.6721 C10orf67 0 genome.wustl.edu 37 10 23611427 23611427 + Missense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 23611427 23611427 G T SNP C10orf67 ENST00000323327 human ensembl 74_37 -1 known missense c.370 p.Q124K 0.121 NULL NULL - no_errors C10orf67 HGNC ENSG00000179133 71 0 0 37 14 27.451 KIAA1217 0 genome.wustl.edu 37 10 24783528 24783528 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 24783528 24783528 G A SNP KIAA1217 ENST00000376454 human ensembl 74_37 +1 known silent c.1779 p.A593 0.069 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 90 0 0 61 29 32.2222 GPR158 0 genome.wustl.edu 37 10 25464598 25464598 + Silent SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 25464598 25464598 C A SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known silent c.249 p.A83 1.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 73 0 0 72 12 14.2857 GAD2 0 genome.wustl.edu 37 10 26508086 26508086 + Missense_Mutation SNP A A T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 26508086 26508086 A T SNP GAD2 ENST00000259271 human ensembl 74_37 +1 known missense c.401 p.D134V 1.000 superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase - no_errors GAD2 HGNC ENSG00000136750 125 0 0 154 34 18.0851 GAD2 0 genome.wustl.edu 37 10 26508097 26508097 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 26508097 26508097 C T SNP GAD2 ENST00000259271 human ensembl 74_37 +1 known missense c.412 p.P138S 1.000 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase - no_errors GAD2 HGNC ENSG00000136750 125 0 0 161 29 15.2632 PITRM1 0 genome.wustl.edu 37 10 3207490 3207490 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 3207490 3207490 G A SNP PITRM1 ENST00000380989 human ensembl 74_37 -1 known silent c.570 p.S190 0.000 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 14 0 0 1 4 80 DIP2C 0 genome.wustl.edu 37 10 323321 323321 + Nonsense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 323321 323321 G A SNP DIP2C ENST00000280886 human ensembl 74_37 -1 known nonsense c.4615 p.R1539* 1.000 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2C HGNC ENSG00000151240 77 0 0 63 40 38.835 PARD3 0 genome.wustl.edu 37 10 34667035 34667035 + Splice_Site SNP C C G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 34667035 34667035 C G SNP PARD3 ENST00000374789 human ensembl 74_37 -1 known splice_site c.1400-1 e10-1 1.000 - - - no_errors PARD3 HGNC ENSG00000148498 160 0 0 119 69 36.7021 HSD17B7P2 0 genome.wustl.edu 37 10 38647366 38647366 + RNA SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 38647366 38647366 T C SNP HSD17B7P2 ENST00000494540 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors HSD17B7P2 HGNC ENSG00000099251 49 0 0 58 8 12.1212 BMS1 0 genome.wustl.edu 37 10 43288456 43288456 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 43288456 43288456 C T SNP BMS1 ENST00000374518 human ensembl 74_37 +1 known missense c.953 p.A318V 0.998 superfamily_P-loop_NTPase pfam_BMS1_TSR1_C,pfam_AARP2CN,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AARP2CN - no_errors BMS1 HGNC ENSG00000165733 236 0 0 161 106 39.7004 ZFAND4 0 genome.wustl.edu 37 10 46121631 46121631 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 46121631 46121631 C T SNP ZFAND4 ENST00000344646 human ensembl 74_37 -1 known missense c.1640 p.R547Q 0.999 NULL pfam_Ubiquitin_dom,pfam_Znf_AN1,smart_Ubiquitin_dom,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors ZFAND4 HGNC ENSG00000172671 153 0 0 127 45 26.1628 SYT15 0 genome.wustl.edu 37 10 46961987 46961987 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 46961987 46961987 G A SNP SYT15 ENST00000374323 human ensembl 74_37 -1 known missense c.1408 p.R470C 0.008 superfamily_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYT15 HGNC ENSG00000204176 143 0 0 143 32 18.2857 MAPK8 0 genome.wustl.edu 37 10 49618095 49618095 + Missense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 49618095 49618095 G T SNP MAPK8 ENST00000360332 human ensembl 74_37 +1 known missense c.334 p.D112Y 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_JNK pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_JNK - no_errors MAPK8 HGNC ENSG00000107643 241 0 0 145 70 32.5581 NCOA4 0 genome.wustl.edu 37 10 51580588 51580588 + Silent SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 51580588 51580588 T C SNP NCOA4 ENST00000452682 human ensembl 74_37 +1 known silent c.222 p.R74 0.945 pfam_ARA70 pfam_ARA70 - no_errors NCOA4 HGNC ENSG00000138293 210 1 0.473934 142 79 35.7466 UCN3 0 genome.wustl.edu 37 10 5416059 5416059 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 5416059 5416059 G A SNP UCN3 ENST00000380433 human ensembl 74_37 +1 known missense c.376 p.V126I 1.000 pfam_Urocortin_II/III pfam_Urocortin_II/III - no_errors UCN3 HGNC ENSG00000178473 34 0 0 33 17 34 NET1 0 genome.wustl.edu 37 10 5493826 5493826 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 5493826 5493826 C T SNP NET1 ENST00000355029 human ensembl 74_37 +1 known missense c.289 p.R97C 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors NET1 HGNC ENSG00000173848 243 1 0.409836 176 122 40.9396 PCDH15 0 genome.wustl.edu 37 10 55913038 55913038 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 55913038 55913038 C T SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.1606 p.A536T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 131 0 0 118 19 13.8686 PCDH15 0 genome.wustl.edu 37 10 55944974 55944974 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 55944974 55944974 C T SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.1360 p.V454I 0.732 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 126 1 0.787402 96 48 33.3333 PHYHIPL 0 genome.wustl.edu 37 10 60936660 60936660 + Missense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 60936660 60936660 C A SNP PHYHIPL ENST00000373880 human ensembl 74_37 +1 known missense c.47 p.P16H 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PHYHIPL HGNC ENSG00000165443 26 0 0 24 14 36.8421 DNA2 0 genome.wustl.edu 37 10 70204681 70204681 + Missense_Mutation SNP C C G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 70204681 70204681 C G SNP DNA2 ENST00000399180 human ensembl 74_37 -1 known missense c.1475 p.S492T 1.000 NULL pfam_DNA_replication_fac_Dna2_N,superfamily_P-loop_NTPase - no_errors DNA2 HGNC ENSG00000138346 54 0 0 30 23 43.3962 SAR1A 0 genome.wustl.edu 37 10 71921671 71921671 + Missense_Mutation SNP T T A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 71921671 71921671 T A SNP SAR1A ENST00000373238 human ensembl 74_37 -1 known missense c.1 p.M1L 1.000 NULL pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gprotein_alpha_su,pfam_MIRO-like,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors SAR1A HGNC ENSG00000079332 78 0 0 55 34 38.2022 PALD1 0 genome.wustl.edu 37 10 72292382 72292382 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 72292382 72292382 C T SNP PALD1 ENST00000263563 human ensembl 74_37 +1 known silent c.639 p.H213 0.948 NULL smart_Tyr_Pase_cat - no_errors PALD1 HGNC ENSG00000107719 133 0 0 97 46 32.1678 ADAMTS14 0 genome.wustl.edu 37 10 72468410 72468410 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 72468410 72468410 G A SNP ADAMTS14 ENST00000373208 human ensembl 74_37 +1 known missense c.746 p.R249Q 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 67 0 0 41 29 41.4286 C10orf54 0 genome.wustl.edu 37 10 73521520 73521520 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 73521520 73521520 G A SNP C10orf54 ENST00000394957 human ensembl 74_37 -1 known missense c.346 p.R116C 0.070 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors C10orf54 HGNC ENSG00000107738 57 0 0 43 27 38.5714 P4HA1 0 genome.wustl.edu 37 10 74813170 74813170 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 74813170 74813170 C T SNP P4HA1 ENST00000263556 human ensembl 74_37 -1 known silent c.642 p.A214 0.428 pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors P4HA1 HGNC ENSG00000122884 179 0 0 110 63 36.4162 TTC18 0 genome.wustl.edu 37 10 75051670 75051670 + Missense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 75051670 75051670 C A SNP TTC18 ENST00000310715 human ensembl 74_37 -1 known missense c.2083 p.A695S 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC18 HGNC ENSG00000156042 191 0 0 153 73 32.3009 SYNPO2L 0 genome.wustl.edu 37 10 75406755 75406755 + Missense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 75406755 75406755 C A SNP SYNPO2L ENST00000394810 human ensembl 74_37 -1 known missense c.2655 p.Q885H 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2L HGNC ENSG00000166317 185 1 0.537634 114 84 42.4242 SYNPO2L 0 genome.wustl.edu 37 10 75407677 75407677 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 75407677 75407677 G A SNP SYNPO2L ENST00000394810 human ensembl 74_37 -1 known missense c.1733 p.S578F 0.211 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2L HGNC ENSG00000166317 34 0 0 31 6 16.2162 ZSWIM8 0 genome.wustl.edu 37 10 75554008 75554008 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 75554008 75554008 G A SNP ZSWIM8 ENST00000398706 human ensembl 74_37 +1 known missense c.2729 p.R910Q 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM8 HGNC ENSG00000214655 194 0 0 145 102 41.2955 VCL 0 genome.wustl.edu 37 10 75849850 75849850 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 75849850 75849850 C T SNP VCL ENST00000211998 human ensembl 74_37 +1 known missense c.1246 p.R416W 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin - no_errors VCL HGNC ENSG00000035403 104 0 0 88 39 30.7087 VCL 0 genome.wustl.edu 37 10 75864999 75864999 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 75864999 75864999 C T SNP VCL ENST00000211998 human ensembl 74_37 +1 known silent c.2322 p.S774 0.875 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin - no_errors VCL HGNC ENSG00000035403 66 0 0 52 33 38.8235 KAT6B 0 genome.wustl.edu 37 10 76735912 76735912 + Nonsense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 76735912 76735912 G A SNP KAT6B ENST00000287239 human ensembl 74_37 +1 known nonsense c.1817 p.W606* 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 137 0 0 105 62 37.1257 ITIH2 0 genome.wustl.edu 37 10 7763613 7763613 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 7763613 7763613 C T SNP ITIH2 ENST00000358415 human ensembl 74_37 +1 known missense c.740 p.A247V 0.993 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH2 HGNC ENSG00000151655 132 0 0 107 51 32.2785 TAF3 0 genome.wustl.edu 37 10 7866287 7866287 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 7866287 7866287 G A SNP TAF3 ENST00000344293 human ensembl 74_37 +1 known missense c.173 p.R58Q 1.000 pfam_BTP,superfamily_Histone-fold,smart_BTP pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors TAF3 HGNC ENSG00000165632 260 0 0 180 99 35.4839 DLG5 0 genome.wustl.edu 37 10 79576791 79576791 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 79576791 79576791 G A SNP DLG5 ENST00000372391 human ensembl 74_37 -1 known missense c.3848 p.P1283L 0.999 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 96 0 0 105 56 34.7826 TAF3 0 genome.wustl.edu 37 10 8055778 8055778 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 8055778 8055778 G A SNP TAF3 ENST00000344293 human ensembl 74_37 +1 known missense c.2653 p.D885N 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors TAF3 HGNC ENSG00000165632 128 0 0 96 50 34.2466 PPIF 0 genome.wustl.edu 37 10 81113511 81113511 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 81113511 81113511 C T SNP PPIF ENST00000394579 human ensembl 74_37 +1 known missense c.461 p.T154M 0.002 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIF HGNC ENSG00000108179 127 0 0 85 58 40.5594 MAT1A 0 genome.wustl.edu 37 10 82033595 82033595 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 82033595 82033595 T C SNP MAT1A ENST00000372213 human ensembl 74_37 -1 known missense c.1130 p.Y377C 0.999 pfam_S-AdoMet_synt_C,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase pfam_S-AdoMet_synt_C,pfam_S-AdoMet_synt_central,pfam_S-AdoMet_synt_N,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase - no_errors MAT1A HGNC ENSG00000151224 268 1 0.371747 261 36 12.1212 LRIT1 0 genome.wustl.edu 37 10 85997427 85997427 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 85997427 85997427 G A SNP LRIT1 ENST00000372105 human ensembl 74_37 -1 known silent c.138 p.N46 0.999 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRIT1 HGNC ENSG00000148602 82 0 0 74 40 35.0877 ENSG00000271880 0 genome.wustl.edu 37 10 88753279 88753279 + RNA SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 88753279 88753279 G A SNP ENSG00000271880 ENST00000433214 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-96C23.5 Clone_based_vega_gene ENSG00000271880 122 0 0 48 54 52.9412 LIPF 0 genome.wustl.edu 37 10 90427430 90427430 + Missense_Mutation SNP T T A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 90427430 90427430 T A SNP LIPF ENST00000394375 human ensembl 74_37 +1 known missense c.240 p.N80K 0.001 pfam_AB_hydrolase_lipase pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1 - no_errors LIPF HGNC ENSG00000182333 110 0 0 22 41 65.0794 MYOF 0 genome.wustl.edu 37 10 95126257 95126257 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 95126257 95126257 C T SNP MYOF ENST00000359263 human ensembl 74_37 -1 known missense c.2645 p.R882H 1.000 smart_Peroxin/Ferlin pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors MYOF HGNC ENSG00000138119 142 0 0 64 20 23.8095 CCNJ 0 genome.wustl.edu 37 10 97816658 97816658 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 97816658 97816658 G A SNP CCNJ ENST00000465148 human ensembl 74_37 +1 known missense c.481 p.E161K 1.000 pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like pfam_Cyclin_C-dom,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNJ HGNC ENSG00000107443 212 1 0.469484 49 86 63.7037 TM9SF3 0 genome.wustl.edu 37 10 98287884 98287884 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 98287884 98287884 C T SNP TM9SF3 ENST00000371142 human ensembl 74_37 -1 known missense c.1445 p.G482D 1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF3 HGNC ENSG00000077147 170 0 0 55 24 30.3797 UBTD1 0 genome.wustl.edu 37 10 99329961 99329961 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 99329961 99329961 C T SNP UBTD1 ENST00000370664 human ensembl 74_37 +1 known missense c.365 p.P122L 1.000 NULL pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBTD1 HGNC ENSG00000165886 138 0 0 41 65 61.3208 CRTAC1 0 genome.wustl.edu 37 10 99677301 99677301 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 99677301 99677301 G A SNP CRTAC1 ENST00000370597 human ensembl 74_37 -1 known missense c.671 p.A224V 0.868 NULL pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom - no_errors CRTAC1 HGNC ENSG00000095713 69 0 0 16 29 64.4444 PGR 0 genome.wustl.edu 37 11 100999400 100999400 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 100999400 100999400 G A SNP PGR ENST00000325455 human ensembl 74_37 -1 known silent c.402 p.C134 0.640 pfam_Progest_rcpt pfam_Progest_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Progest_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors PGR HGNC ENSG00000082175 27 0 0 11 8 42.1053 BIRC3 0 genome.wustl.edu 37 11 102195710 102195710 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 102195710 102195710 T C SNP BIRC3 ENST00000263464 human ensembl 74_37 +1 known missense c.470 p.L157S 0.594 NULL pfam_BIR,pfam_CARD,superfamily_DEATH-like_dom,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC3 HGNC ENSG00000023445 338 0 0 246 72 22.6415 MMP10 0 genome.wustl.edu 37 11 102650238 102650238 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 102650238 102650238 T C SNP MMP10 ENST00000279441 human ensembl 74_37 -1 known missense c.344 p.Y115C 1.000 pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo 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 MMP10 HGNC ENSG00000166670 68 0 0 42 11 20.7547 MMP12 0 genome.wustl.edu 37 11 102743616 102743616 + RNA SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 102743616 102743616 C A SNP MMP12 ENST00000326227 human ensembl 74_37 -1 known rna NULL NULL 0.341 - - - no_errors MMP12 HGNC ENSG00000110347 33 0 0 24 7 22.5806 DDI1 0 genome.wustl.edu 37 11 103908686 103908686 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 103908686 103908686 C T SNP DDI1 ENST00000302259 human ensembl 74_37 +1 known missense c.1136 p.S379F 0.017 NULL pfam_Peptidase_aspartic_DDI1-type,pfam_Ubiquitin_dom,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors DDI1 HGNC ENSG00000170967 60 0 0 41 18 30.5085 AMPD3 0 genome.wustl.edu 37 11 10508902 10508902 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 10508902 10508902 C T SNP AMPD3 ENST00000396553 human ensembl 74_37 +1 known silent c.930 p.N310 0.925 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 178 0 0 51 80 61.0687 ELMOD1 0 genome.wustl.edu 37 11 107518326 107518326 + Nonsense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 107518326 107518326 C T SNP ELMOD1 ENST00000265840 human ensembl 74_37 +1 known nonsense c.553 p.Q185* 1.000 pfam_Engulfment_cell_motility_ELMO pfam_Engulfment_cell_motility_ELMO - no_errors ELMOD1 HGNC ENSG00000110675 57 0 0 25 21 45.6522 ELMOD1 0 genome.wustl.edu 37 11 107535878 107535878 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 107535878 107535878 G A SNP ELMOD1 ENST00000265840 human ensembl 74_37 +1 known silent c.960 p.A320 0.005 NULL pfam_Engulfment_cell_motility_ELMO - no_errors ELMOD1 HGNC ENSG00000110675 162 0 0 103 95 47.9798 PPP2R1B 0 genome.wustl.edu 37 11 111612776 111612776 + Splice_Site SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 111612776 111612776 C A SNP PPP2R1B ENST00000311129 human ensembl 74_37 -1 known splice_site c.1789+1 e14+1 1.000 - - - no_errors PPP2R1B HGNC ENSG00000137713 156 0 0 59 50 45.8716 BCO2 0 genome.wustl.edu 37 11 112050109 112050109 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 112050109 112050109 G A SNP BCO2 ENST00000357685 human ensembl 74_37 +1 known missense c.197 p.R66Q 0.000 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors BCO2 HGNC ENSG00000197580 143 0 0 80 45 36 APOA5 0 genome.wustl.edu 37 11 116661100 116661100 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 116661100 116661100 C T SNP APOA5 ENST00000227665 human ensembl 74_37 -1 known missense c.845 p.R282H 0.361 pfam_ApoA1_A4_E pfam_ApoA1_A4_E - no_errors APOA5 HGNC ENSG00000110243 85 0 0 78 28 26.4151 RNF214 0 genome.wustl.edu 37 11 117110519 117110519 + Silent SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 117110519 117110519 T C SNP RNF214 ENST00000300650 human ensembl 74_37 +1 known silent c.621 p.T207 1.000 NULL pfscan_Znf_RING - no_errors RNF214 HGNC ENSG00000167257 47 0 0 26 6 18.75 MPZL2 0 genome.wustl.edu 37 11 118130803 118130803 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 118130803 118130803 C T SNP MPZL2 ENST00000438295 human ensembl 74_37 -1 known missense c.550 p.A184T 0.688 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Myelin_P0 - no_errors MPZL2 HGNC ENSG00000149573 409 0 0 305 79 20.5729 ARCN1 0 genome.wustl.edu 37 11 118454555 118454555 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 118454555 118454555 G A SNP ARCN1 ENST00000264028 human ensembl 74_37 +1 known missense c.479 p.R160H 1.000 NULL 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 109 0 0 106 29 21.4815 HYOU1 0 genome.wustl.edu 37 11 118923438 118923438 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 118923438 118923438 G A SNP HYOU1 ENST00000404233 human ensembl 74_37 -1 known missense c.898 p.R300W 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HYOU1 HGNC ENSG00000149428 39 0 0 21 13 38.2353 VPS11 0 genome.wustl.edu 37 11 118942339 118942339 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 118942339 118942339 G A SNP VPS11 ENST00000300793 human ensembl 74_37 +1 known missense c.667 p.V223M 0.279 superfamily_WD40_repeat_dom,pirsf_VPS11 pfam_VPS11_C,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_RING,pirsf_VPS11,pfscan_Znf_RING - no_errors VPS11 HGNC ENSG00000160695 56 0 0 57 15 20.8333 HMBS 0 genome.wustl.edu 37 11 118963179 118963179 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 118963179 118963179 C T SNP HMBS ENST00000278715 human ensembl 74_37 +1 known silent c.717 p.H239 0.143 superfamily_Porphobilinogen_deaminase_C,pirsf_4pyrrol_synth_OHMeBilane_synth,tigrfam_4pyrrol_synth_OHMeBilane_synth pfam_Porphobilin_deaminase_N,pfam_Porphobilinogen_deaminase_C,superfamily_Porphobilinogen_deaminase_C,pirsf_4pyrrol_synth_OHMeBilane_synth,prints_4pyrrol_synth_OHMeBilane_synth,tigrfam_4pyrrol_synth_OHMeBilane_synth - no_errors HMBS HGNC ENSG00000256269 174 0 0 151 52 25.6158 PDZD3 0 genome.wustl.edu 37 11 119058109 119058109 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 119058109 119058109 G A SNP PDZD3 ENST00000392817 human ensembl 74_37 +1 known missense c.659 p.R220Q 0.885 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD3 HGNC ENSG00000172367 40 0 0 27 12 30.7692 PVRL1 0 genome.wustl.edu 37 11 119549159 119549159 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 119549159 119549159 G A SNP PVRL1 ENST00000264025 human ensembl 74_37 -1 known silent c.396 p.G132 1.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PVRL1 HGNC ENSG00000110400 108 0 0 113 17 13.0769 TMEM136 0 genome.wustl.edu 37 11 120200762 120200762 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 120200762 120200762 C T SNP TMEM136 ENST00000314475 human ensembl 74_37 +1 known silent c.342 p.C114 0.996 pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom - no_errors TMEM136 HGNC ENSG00000181264 130 0 0 64 45 41.2844 SORL1 0 genome.wustl.edu 37 11 121458822 121458822 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 121458822 121458822 G A SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known missense c.3908 p.R1303H 0.825 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 107 0 0 60 23 27.7108 OR10G8 0 genome.wustl.edu 37 11 123900949 123900949 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 123900949 123900949 C T SNP OR10G8 ENST00000431524 human ensembl 74_37 +1 known missense c.620 p.S207L 0.009 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G8 HGNC ENSG00000234560 144 0 0 105 37 26.0563 OR10G8 0 genome.wustl.edu 37 11 123901012 123901012 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 123901012 123901012 G A SNP OR10G8 ENST00000431524 human ensembl 74_37 +1 known missense c.683 p.R228H 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G8 HGNC ENSG00000234560 130 0 0 66 43 39.4495 OR10G8 0 genome.wustl.edu 37 11 123901055 123901055 + Silent SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 123901055 123901055 C A SNP OR10G8 ENST00000431524 human ensembl 74_37 +1 known silent c.726 p.S242 0.994 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 OR10G8 HGNC ENSG00000234560 127 0 0 65 51 43.9655 OR8D1 0 genome.wustl.edu 37 11 124180456 124180456 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 124180456 124180456 G A SNP OR8D1 ENST00000357821 human ensembl 74_37 -1 known silent c.207 p.V69 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D1 HGNC ENSG00000196341 95 0 0 37 47 55.9524 OR8A1 0 genome.wustl.edu 37 11 124440462 124440462 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 124440462 124440462 C T SNP OR8A1 ENST00000284287 human ensembl 74_37 +1 known silent c.498 p.Y166 0.006 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8A1 HGNC ENSG00000196119 96 0 0 59 29 32.9545 ESAM 0 genome.wustl.edu 37 11 124623849 124623849 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 124623849 124623849 G A SNP ESAM ENST00000278927 human ensembl 74_37 -1 known missense c.866 p.A289V 0.994 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors ESAM HGNC ENSG00000149564 39 0 0 31 6 16.2162 MSANTD2 0 genome.wustl.edu 37 11 124644863 124644863 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 124644863 124644863 C T SNP MSANTD2 ENST00000374979 human ensembl 74_37 -1 known missense c.518 p.R173H 1.000 NULL NULL - no_errors MSANTD2 HGNC ENSG00000120458 16 0 0 5 3 37.5 FEZ1 0 genome.wustl.edu 37 11 125325904 125325904 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 125325904 125325904 G A SNP FEZ1 ENST00000278919 human ensembl 74_37 -1 known missense c.766 p.R256C 1.000 pfam_FEZ pfam_FEZ - no_errors FEZ1 HGNC ENSG00000149557 85 0 0 88 13 12.8713 DCPS 0 genome.wustl.edu 37 11 126213223 126213223 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 126213223 126213223 G A SNP DCPS ENST00000263579 human ensembl 74_37 +1 known missense c.658 p.A220T 0.994 superfamily_HIT-like,pirsf_DcpS/DCS2 pfam_DcpS/DCS2,superfamily_HIT-like,superfamily_Scavenger_mRNA_decap_enz_N,pirsf_DcpS/DCS2 - no_errors DCPS HGNC ENSG00000110063 31 0 0 17 11 39.2857 PRDM10 0 genome.wustl.edu 37 11 129800997 129800997 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 129800997 129800997 G A SNP PRDM10 ENST00000358825 human ensembl 74_37 -1 known missense c.1444 p.H482Y 0.277 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PRDM10 HGNC ENSG00000170325 129 0 0 90 20 18.1818 IGSF9B 0 genome.wustl.edu 37 11 133790169 133790169 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 133790169 133790169 C T SNP IGSF9B ENST00000321016 human ensembl 74_37 -1 known missense c.3451 p.E1151K 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF9B HGNC ENSG00000080854 92 0 0 37 33 47.1429 IGSF9B 0 genome.wustl.edu 37 11 133806075 133806075 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 133806075 133806075 C T SNP IGSF9B ENST00000321016 human ensembl 74_37 -1 known missense c.694 p.V232I 0.987 pfam_Ig_I-set,smart_Fibronectin_type3,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF9B HGNC ENSG00000080854 17 0 0 7 3 30 B3GAT1 0 genome.wustl.edu 37 11 134253993 134253993 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 134253993 134253993 G A SNP B3GAT1 ENST00000537389 human ensembl 74_37 -1 known missense c.241 p.R81C 1.000 NULL pfam_Glyco_trans_43 - no_errors B3GAT1 HGNC ENSG00000109956 19 0 0 14 6 30 BTBD10 0 genome.wustl.edu 37 11 13435172 13435172 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 13435172 13435172 C T SNP BTBD10 ENST00000278174 human ensembl 74_37 -1 known missense c.713 p.R238H 1.000 superfamily_BTB/POZ_fold,smart_BTB/POZ-like superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors BTBD10 HGNC ENSG00000148925 59 0 0 13 22 62.8571 PDE3B 0 genome.wustl.edu 37 11 14889180 14889180 + Silent SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 14889180 14889180 T C SNP PDE3B ENST00000282096 human ensembl 74_37 +1 known silent c.3015 p.A1005 0.996 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3B HGNC ENSG00000152270 108 0 0 51 18 26.087 USH1C 0 genome.wustl.edu 37 11 17553007 17553007 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 17553007 17553007 G A SNP USH1C ENST00000005226 human ensembl 74_37 -1 known missense c.187 p.R63W 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors USH1C HGNC ENSG00000006611 46 0 0 12 18 60 KIAA1549L 0 genome.wustl.edu 37 11 33667548 33667548 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 33667548 33667548 G A SNP KIAA1549L ENST00000389726 human ensembl 74_37 +1 known missense c.4853 p.R1618H 1.000 NULL NULL - no_errors KIAA1549L HGNC ENSG00000110427 19 0 0 5 3 37.5 CD44 0 genome.wustl.edu 37 11 35219744 35219744 + Missense_Mutation SNP T T G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 35219744 35219744 T G SNP CD44 ENST00000428726 human ensembl 74_37 +1 known missense c.873 p.S291R 1.000 NULL pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_CD44_antigen,prints_Link - no_errors CD44 HGNC ENSG00000026508 91 0 0 29 33 53.2258 CD44 0 genome.wustl.edu 37 11 35229754 35229754 + Splice_Site SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 35229754 35229754 G A SNP CD44 ENST00000428726 human ensembl 74_37 +1 known splice_site c.1516+1 e12+1 1.000 - - - no_errors CD44 HGNC ENSG00000026508 120 1 0.826446 28 54 65.8537 CKAP5 0 genome.wustl.edu 37 11 46818455 46818455 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 46818455 46818455 G A SNP CKAP5 ENST00000415402 human ensembl 74_37 -1 known silent c.1374 p.A458 1.000 pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,superfamily_Homing_endonucl,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC ENSG00000175216 173 0 0 45 68 60.177 AGBL2 0 genome.wustl.edu 37 11 47732018 47732018 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 47732018 47732018 C T SNP AGBL2 ENST00000357610 human ensembl 74_37 -1 known missense c.143 p.R48Q 0.412 NULL pfam_Peptidase_M14 - no_errors AGBL2 HGNC ENSG00000165923 161 0 0 38 56 59.5745 NUP160 0 genome.wustl.edu 37 11 47801897 47801897 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 47801897 47801897 C T SNP NUP160 ENST00000378460 human ensembl 74_37 -1 known missense c.4219 p.A1407T 0.023 NULL pfam_Nucleoporin_Nup160 - no_errors NUP160 HGNC ENSG00000030066 92 0 0 32 18 36 OR4A5 0 genome.wustl.edu 37 11 51411679 51411679 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 51411679 51411679 G A SNP OR4A5 ENST00000319760 human ensembl 74_37 -1 known silent c.717 p.S239 0.120 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A5 HGNC ENSG00000221840 107 0 0 77 21 21.4286 OR5L1 0 genome.wustl.edu 37 11 55579400 55579400 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 55579400 55579400 C T SNP OR5L1 ENST00000333973 human ensembl 74_37 +1 known missense c.458 p.T153M 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L1 HGNC ENSG00000186117 206 1 0.483092 155 39 20.1031 OR5AP2 0 genome.wustl.edu 37 11 56409551 56409551 + Missense_Mutation SNP G G C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 56409551 56409551 G C SNP OR5AP2 ENST00000544374 human ensembl 74_37 -1 known missense c.368 p.A123G 0.909 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 OR5AP2 HGNC ENSG00000172464 86 0 0 52 10 16.129 APLNR 0 genome.wustl.edu 37 11 57004212 57004212 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 57004212 57004212 C T SNP APLNR ENST00000257254 human ensembl 74_37 -1 known silent c.267 p.T89 0.087 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_ATII_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_APJ_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt - no_errors APLNR HGNC ENSG00000134817 36 0 0 37 9 19.5652 TNKS1BP1 0 genome.wustl.edu 37 11 57077112 57077112 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 57077112 57077112 C T SNP TNKS1BP1 ENST00000358252 human ensembl 74_37 -1 known missense c.3073 p.G1025R 0.031 NULL NULL - no_errors TNKS1BP1 HGNC ENSG00000149115 110 0 0 49 47 48.9583 SLC43A3 0 genome.wustl.edu 37 11 57185284 57185284 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 57185284 57185284 C T SNP SLC43A3 ENST00000352187 human ensembl 74_37 -1 known missense c.608 p.R203H 0.979 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC43A3 HGNC ENSG00000134802 75 0 0 73 14 16.092 SERPING1 0 genome.wustl.edu 37 11 57373534 57373534 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 57373534 57373534 G A SNP SERPING1 ENST00000278407 human ensembl 74_37 +1 known missense c.737 p.S246N 0.997 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPING1 HGNC ENSG00000149131 199 0 0 173 54 23.7885 GLYATL2 0 genome.wustl.edu 37 11 58604560 58604560 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 58604560 58604560 G A SNP GLYATL2 ENST00000287275 human ensembl 74_37 -1 known missense c.404 p.P135L 0.000 pfam_Glycine_N-acyltransferase_N,superfamily_Acyl_CoA_acyltransferase pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,pfam_FR47,superfamily_Acyl_CoA_acyltransferase - no_errors GLYATL2 HGNC ENSG00000156689 115 0 0 57 44 43.5644 DTX4 0 genome.wustl.edu 37 11 58972233 58972233 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 58972233 58972233 G A SNP DTX4 ENST00000227451 human ensembl 74_37 +1 known missense c.1711 p.V571I 1.000 NULL pfam_WWE-dom,pfam_Znf_C3HC4_RING-type,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX4 HGNC ENSG00000110042 15 0 0 28 7 20 DDB1 0 genome.wustl.edu 37 11 61079550 61079550 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 61079550 61079550 C T SNP DDB1 ENST00000301764 human ensembl 74_37 -1 known silent c.2076 p.A692 0.068 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors DDB1 HGNC ENSG00000167986 138 0 0 85 72 45.8599 PPP1R32 0 genome.wustl.edu 37 11 61254449 61254449 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 61254449 61254449 C T SNP PPP1R32 ENST00000338608 human ensembl 74_37 +1 known silent c.864 p.S288 0.989 NULL NULL - no_errors PPP1R32 HGNC ENSG00000162148 360 0 0 268 73 21.4076 RPLP0P2 0 genome.wustl.edu 37 11 61404305 61404305 + RNA SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 61404305 61404305 G A SNP RPLP0P2 ENST00000496593 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RPLP0P2 HGNC ENSG00000243742 39 0 0 39 16 29.0909 FADS3 0 genome.wustl.edu 37 11 61646251 61646251 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 61646251 61646251 G A SNP FADS3 ENST00000278829 human ensembl 74_37 -1 known silent c.591 p.H197 0.001 pfam_Fatty_acid_desaturase-1,pirsf_Fatty_acid/sphinglp_desaturase 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 FADS3 HGNC ENSG00000221968 45 0 0 47 11 18.9655 SCGB1A1 0 genome.wustl.edu 37 11 62186576 62186576 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 62186576 62186576 C T SNP SCGB1A1 ENST00000278282 human ensembl 74_37 +1 known silent c.9 p.L3 0.392 pfam_Secretoglobin,prints_Uteroglobin pfam_Secretoglobin,superfamily_Secretoglobin,smart_Secretoglobin,prints_Uteroglobin - no_errors SCGB1A1 HGNC ENSG00000149021 52 0 0 33 13 28.2609 AHNAK 0 genome.wustl.edu 37 11 62292852 62292852 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 62292852 62292852 C T SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.9037 p.V3013I 0.014 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 354 0 0 285 62 17.8674 AHNAK 0 genome.wustl.edu 37 11 62301276 62301276 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 62301276 62301276 C T SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.613 p.V205M 0.889 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 86 0 0 42 46 52.2727 LRRN4CL 0 genome.wustl.edu 37 11 62455516 62455516 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 62455516 62455516 G A SNP LRRN4CL ENST00000317449 human ensembl 74_37 -1 known silent c.465 p.A155 0.010 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LRRN4CL HGNC ENSG00000177363 26 0 0 21 9 30 RTN3 0 genome.wustl.edu 37 11 63517468 63517468 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 63517468 63517468 G A SNP RTN3 ENST00000377819 human ensembl 74_37 +1 known missense c.2536 p.D846N 1.000 pfam_Reticulon,pfscan_Reticulon pfam_Reticulon,pfscan_Reticulon - no_errors RTN3 HGNC ENSG00000133318 32 0 0 15 19 55.8824 GPR137 0 genome.wustl.edu 37 11 64056781 64056781 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 64056781 64056781 C T SNP GPR137 ENST00000313074 human ensembl 74_37 +1 known missense c.1198 p.L400F 0.023 NULL NULL - no_errors GPR137 HGNC ENSG00000173264 187 0 0 128 91 41.5525 RPS6KA4 0 genome.wustl.edu 37 11 64129375 64129375 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 64129375 64129375 G A SNP RPS6KA4 ENST00000334205 human ensembl 74_37 +1 known silent c.807 p.A269 0.373 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_LipoPS_kinase,pfam_Pkinase_C,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,pfscan_Prot_kinase_dom - no_errors RPS6KA4 HGNC ENSG00000162302 164 0 0 100 85 45.9459 RPS6KA4 0 genome.wustl.edu 37 11 64138137 64138137 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 64138137 64138137 C T SNP RPS6KA4 ENST00000334205 human ensembl 74_37 +1 known missense c.2060 p.T687M 0.995 superfamily_Kinase-like_dom,pirsf_Ribosomal_S6_kinase_II pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,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,pfscan_Prot_kinase_dom - no_errors RPS6KA4 HGNC ENSG00000162302 8 0 0 1 6 85.7143 RASGRP2 0 genome.wustl.edu 37 11 64507150 64507150 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 64507150 64507150 C T SNP RASGRP2 ENST00000377494 human ensembl 74_37 -1 known silent c.654 p.P218 0.040 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRP2 HGNC ENSG00000068831 184 0 0 173 31 15.1961 SF1 0 genome.wustl.edu 37 11 64534544 64534544 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 64534544 64534544 C T SNP SF1 ENST00000377390 human ensembl 74_37 -1 known missense c.1410 p.M470I 1.000 NULL pfam_KH_dom_type_1,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_KH_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_KH_dom_type_1 - no_errors SF1 HGNC ENSG00000168066 45 0 0 38 11 22.449 CDC42BPG 0 genome.wustl.edu 37 11 64597185 64597185 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 64597185 64597185 G A SNP CDC42BPG ENST00000342711 human ensembl 74_37 -1 known missense c.3725 p.A1242V 0.028 pfam_Citron,smart_Citron 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 25 0 0 17 4 19.0476 CDC42BPG 0 genome.wustl.edu 37 11 64597675 64597675 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 64597675 64597675 G A SNP CDC42BPG ENST00000342711 human ensembl 74_37 -1 known missense c.3358 p.R1120C 1.000 pfam_Citron,smart_Citron 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 24 0 0 18 7 28 CDC42BPG 0 genome.wustl.edu 37 11 64602006 64602006 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 64602006 64602006 G A SNP CDC42BPG ENST00000342711 human ensembl 74_37 -1 known missense c.2219 p.S740L 0.996 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 12 0 0 7 5 41.6667 EHD1 0 genome.wustl.edu 37 11 64622105 64622105 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 64622105 64622105 G A SNP EHD1 ENST00000320631 human ensembl 74_37 -1 known silent c.1305 p.D435 0.836 NULL pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD1 HGNC ENSG00000110047 172 0 0 117 40 25.4777 ATG2A 0 genome.wustl.edu 37 11 64665443 64665443 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 64665443 64665443 C T SNP ATG2A ENST00000421419 human ensembl 74_37 -1 known missense c.4868 p.R1623H 0.012 NULL pfam_Autophagy-rel_C - no_errors ATG2A HGNC ENSG00000110046 107 0 0 60 32 34.7826 EHBP1L1 0 genome.wustl.edu 37 11 65347604 65347604 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 65347604 65347604 G A SNP EHBP1L1 ENST00000309295 human ensembl 74_37 +1 known missense c.365 p.R122H 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1L1 HGNC ENSG00000173442 30 0 0 18 21 53.8462 SIPA1 0 genome.wustl.edu 37 11 65408617 65408617 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 65408617 65408617 C T SNP SIPA1 ENST00000394224 human ensembl 74_37 +1 known silent c.225 p.H75 0.987 NULL pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1 HGNC ENSG00000213445 71 0 0 20 25 55.5556 KAT5 0 genome.wustl.edu 37 11 65482089 65482089 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 65482089 65482089 C T SNP KAT5 ENST00000341318 human ensembl 74_37 +1 known missense c.814 p.R272W 1.000 superfamily_Acyl_CoA_acyltransferase pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors KAT5 HGNC ENSG00000172977 128 0 0 71 48 40.3361 SART1 0 genome.wustl.edu 37 11 65746292 65746292 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 65746292 65746292 C T SNP SART1 ENST00000312397 human ensembl 74_37 +1 known missense c.2291 p.T764M 1.000 NULL pfam_SART_1 - no_errors SART1 HGNC ENSG00000175467 197 0 0 166 48 22.4299 DNHD1 0 genome.wustl.edu 37 11 6591961 6591961 + Nonsense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 6591961 6591961 C T SNP DNHD1 ENST00000254579 human ensembl 74_37 +1 known nonsense c.13219 p.R4407* 0.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 24 0 0 7 8 53.3333 KLC2 0 genome.wustl.edu 37 11 66032646 66032646 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 66032646 66032646 G A SNP KLC2 ENST00000316924 human ensembl 74_37 +1 known missense c.1274 p.R425H 1.000 NULL pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,prints_Kinesin_light,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KLC2 HGNC ENSG00000174996 119 0 0 92 25 21.3675 PELI3 0 genome.wustl.edu 37 11 66243148 66243148 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 66243148 66243148 C T SNP PELI3 ENST00000320740 human ensembl 74_37 +1 known missense c.920 p.A307V 0.762 pfam_Pellino_fam pfam_Pellino_fam - no_errors PELI3 HGNC ENSG00000174516 59 0 0 41 27 39.7059 PELI3 0 genome.wustl.edu 37 11 66243489 66243489 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 66243489 66243489 G A SNP PELI3 ENST00000320740 human ensembl 74_37 +1 known missense c.1261 p.V421I 1.000 pfam_Pellino_fam pfam_Pellino_fam - no_errors PELI3 HGNC ENSG00000174516 28 0 0 31 17 35.4167 PC 0 genome.wustl.edu 37 11 66620737 66620737 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 66620737 66620737 G A SNP PC ENST00000393958 human ensembl 74_37 -1 known missense c.1486 p.R496W 1.000 pirsf_Pyruv_COase,tigrfam_Pyruv_COase pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Carboxylase_cons_dom,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_PYR_CT,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pirsf_Pyruv_COase,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_PYR_CT,pfscan_Biotin_lipoyl,tigrfam_Pyruv_COase - no_errors PC HGNC ENSG00000173599 111 0 0 47 36 43.3735 PC 0 genome.wustl.edu 37 11 66638798 66638798 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 66638798 66638798 C T SNP PC ENST00000393958 human ensembl 74_37 -1 known missense c.475 p.A159T 1.000 pfam_CbamoylP_synth_lsu-like_ATP-bd,pirsf_Pyruv_COase,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,tigrfam_Pyruv_COase pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Carboxylase_cons_dom,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_PYR_CT,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pirsf_Pyruv_COase,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_PYR_CT,pfscan_Biotin_lipoyl,tigrfam_Pyruv_COase - no_errors PC HGNC ENSG00000173599 165 0 0 82 63 43.4483 ANKRD13D 0 genome.wustl.edu 37 11 67059125 67059125 + Missense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 67059125 67059125 G T SNP ANKRD13D ENST00000511455 human ensembl 74_37 +1 known missense c.449 p.R150L 1.000 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 ANKRD13D HGNC ENSG00000172932 111 1 0.892857 76 30 28.3019 RPS6KB2 0 genome.wustl.edu 37 11 67200859 67200859 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 67200859 67200859 A G SNP RPS6KB2 ENST00000312629 human ensembl 74_37 +1 known missense c.847 p.R283G 0.980 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,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,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_dom - no_errors RPS6KB2 HGNC ENSG00000175634 121 0 0 70 51 42.1488 RPS6KB2 0 genome.wustl.edu 37 11 67200902 67200902 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 67200902 67200902 G A SNP RPS6KB2 ENST00000312629 human ensembl 74_37 +1 known missense c.890 p.R297Q 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,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,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_dom - no_errors RPS6KB2 HGNC ENSG00000175634 97 0 0 46 34 42.5 LRP5 0 genome.wustl.edu 37 11 68177535 68177535 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 68177535 68177535 G A SNP LRP5 ENST00000294304 human ensembl 74_37 +1 known missense c.2245 p.G749R 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_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 51 0 0 19 20 51.2821 LRP5 0 genome.wustl.edu 37 11 68183972 68183972 + Nonsense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 68183972 68183972 C T SNP LRP5 ENST00000294304 human ensembl 74_37 +1 known nonsense c.3004 p.R1002* 0.959 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 47 0 0 36 9 20 LRP5 0 genome.wustl.edu 37 11 68216420 68216420 + Missense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 68216420 68216420 C A SNP LRP5 ENST00000294304 human ensembl 74_37 +1 known missense c.4730 p.P1577H 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6 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 44 0 0 41 21 33.871 MTL5 0 genome.wustl.edu 37 11 68517738 68517738 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 68517738 68517738 C T SNP MTL5 ENST00000255087 human ensembl 74_37 -1 known missense c.391 p.A131T 0.003 NULL pfam_CRC,superfamily_Thionin - no_errors MTL5 HGNC ENSG00000132749 18 0 0 3 12 80 CTTN 0 genome.wustl.edu 37 11 70281703 70281703 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 70281703 70281703 G A SNP CTTN ENST00000538675 human ensembl 74_37 +1 known missense c.794 p.R265Q 0.000 NULL pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors CTTN HGNC ENSG00000085733 16 0 0 2 4 66.6667 SHANK2 0 genome.wustl.edu 37 11 70331846 70331846 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 70331846 70331846 T C SNP SHANK2 ENST00000338508 human ensembl 74_37 -1 known missense c.4555 p.T1519A 1.000 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 164 1 0.606061 113 49 30.2469 SHANK2 0 genome.wustl.edu 37 11 70332491 70332491 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 70332491 70332491 T C SNP SHANK2 ENST00000338508 human ensembl 74_37 -1 known missense c.3910 p.M1304V 0.968 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 117 0 0 102 28 21.5385 STARD10 0 genome.wustl.edu 37 11 72470300 72470300 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 72470300 72470300 C T SNP STARD10 ENST00000334805 human ensembl 74_37 -1 known missense c.334 p.A112T 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 46 0 0 24 15 38.4615 ARHGEF17 0 genome.wustl.edu 37 11 73021101 73021101 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 73021101 73021101 C T SNP ARHGEF17 ENST00000263674 human ensembl 74_37 +1 known missense c.1418 p.T473M 0.987 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF17 HGNC ENSG00000110237 82 0 0 46 9 16.3636 TMEM135 0 genome.wustl.edu 37 11 87006867 87006867 + Splice_Site SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 87006867 87006867 T C SNP TMEM135 ENST00000305494 human ensembl 74_37 +1 known splice_site c.551+2 e7+2 1.000 - - - no_errors TMEM135 HGNC ENSG00000166575 100 1 0.990099 49 16 24.6154 ASCL3 0 genome.wustl.edu 37 11 8959399 8959399 + Nonsense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 8959399 8959399 G A SNP ASCL3 ENST00000325884 human ensembl 74_37 -1 known nonsense c.310 p.Q104* 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors ASCL3 HGNC ENSG00000176009 130 0 0 32 55 63.2184 FAT3 0 genome.wustl.edu 37 11 92534487 92534487 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 92534487 92534487 C T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.8308 p.R2770C 1.000 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 67 0 0 43 13 23.2143 KDM4D 0 genome.wustl.edu 37 11 94731569 94731569 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 94731569 94731569 G A SNP KDM4D ENST00000335080 human ensembl 74_37 +1 known missense c.1033 p.V345M 0.073 NULL pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4D HGNC ENSG00000186280 62 0 0 52 14 21.2121 UHRF1BP1L 0 genome.wustl.edu 37 12 100452762 100452762 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 100452762 100452762 G A SNP UHRF1BP1L ENST00000279907 human ensembl 74_37 -1 known missense c.2293 p.R765W 1.000 NULL NULL - no_errors UHRF1BP1L HGNC ENSG00000111647 207 0 0 128 91 41.5525 UTP20 0 genome.wustl.edu 37 12 101774925 101774925 + Missense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 101774925 101774925 G T SNP UTP20 ENST00000261637 human ensembl 74_37 +1 known missense c.7592 p.S2531I 1.000 NULL pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 122 0 0 82 38 31.6667 GNPTAB 0 genome.wustl.edu 37 12 102179952 102179952 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 102179952 102179952 G A SNP GNPTAB ENST00000299314 human ensembl 74_37 -1 known missense c.409 p.P137S 1.000 NULL pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_hand_dom,pfscan_Notch_dom - no_errors GNPTAB HGNC ENSG00000111670 45 0 0 24 23 48.9362 PAH 0 genome.wustl.edu 37 12 103260410 103260410 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 103260410 103260410 C T SNP PAH ENST00000553106 human ensembl 74_37 -1 known missense c.473 p.R158Q 1.000 pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Phe-4-hydroxylase_tetra pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Phe-4-hydroxylase_tetra - no_errors PAH HGNC ENSG00000171759 85 0 0 52 30 36.5854 HSP90B1 0 genome.wustl.edu 37 12 104335416 104335416 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 104335416 104335416 C T SNP HSP90B1 ENST00000299767 human ensembl 74_37 +1 known missense c.1240 p.R414C 1.000 pirsf_Hsp90_fam,pfam_Hsp90_fam,superfamily_Ribosomal_S5_D2-typ_fold pirsf_Hsp90_fam,pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,prints_Hsp90_N - no_errors HSP90B1 HGNC ENSG00000166598 155 0 0 149 32 17.6796 C12orf45 0 genome.wustl.edu 37 12 105388285 105388285 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 105388285 105388285 G A SNP C12orf45 ENST00000552951 human ensembl 74_37 +1 known silent c.369 p.S123 0.022 NULL NULL - no_errors C12orf45 HGNC ENSG00000151131 41 0 0 31 18 36.7347 POLR3B 0 genome.wustl.edu 37 12 106853057 106853057 + Silent SNP T T G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 106853057 106853057 T G SNP POLR3B ENST00000228347 human ensembl 74_37 +1 known silent c.2481 p.L827 1.000 pfam_DNA-dir_RNA_pol_su2_6 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_5 - no_errors POLR3B HGNC ENSG00000013503 152 0 0 99 64 39.2638 YBX3 0 genome.wustl.edu 37 12 10865878 10865878 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 10865878 10865878 G A SNP YBX3 ENST00000228251 human ensembl 74_37 -1 known missense c.505 p.R169C 1.000 NULL pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot,prints_CSP_DNA-bd - no_errors YBX3 HGNC ENSG00000060138 128 0 0 228 76 25 CMKLR1 0 genome.wustl.edu 37 12 108685895 108685895 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 108685895 108685895 A G SNP CMKLR1 ENST00000312143 human ensembl 74_37 -1 known missense c.845 p.L282P 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt,prints_Anphylx_rcpt,prints_ATII_rcpt - no_errors CMKLR1 HGNC ENSG00000174600 56 0 0 42 24 36.3636 SSH1 0 genome.wustl.edu 37 12 109181948 109181948 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 109181948 109181948 G A SNP SSH1 ENST00000326495 human ensembl 74_37 -1 known missense c.2966 p.T989M 0.944 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH1 HGNC ENSG00000084112 382 0 0 285 149 34.3318 SSH1 0 genome.wustl.edu 37 12 109182915 109182915 + Nonsense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 109182915 109182915 G A SNP SSH1 ENST00000326495 human ensembl 74_37 -1 known nonsense c.1999 p.R667* 0.987 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH1 HGNC ENSG00000084112 37 0 0 31 14 31.1111 DAO 0 genome.wustl.edu 37 12 109278977 109278977 + Splice_Site SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 109278977 109278977 G A SNP DAO ENST00000228476 human ensembl 74_37 +1 known splice_site c.194+1 e1+1 1.000 - - - no_errors DAO HGNC ENSG00000110887 115 0 0 119 75 38.6598 TAS2R8 0 genome.wustl.edu 37 12 10959062 10959062 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 10959062 10959062 T C SNP TAS2R8 ENST00000240615 human ensembl 74_37 -1 known missense c.518 p.H173R 0.001 pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors TAS2R8 HGNC ENSG00000121314 71 0 0 82 24 22.6415 UBE3B 0 genome.wustl.edu 37 12 109924288 109924288 + Missense_Mutation SNP T T A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 109924288 109924288 T A SNP UBE3B ENST00000342494 human ensembl 74_37 +1 known missense c.355 p.S119T 1.000 NULL pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3B HGNC ENSG00000151148 73 0 0 71 35 33.0189 GIT2 0 genome.wustl.edu 37 12 110371863 110371863 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 110371863 110371863 G A SNP GIT2 ENST00000355312 human ensembl 74_37 -1 known silent c.2031 p.H677 0.007 pfam_GIT1_C pfam_GIT1_C,pfam_GIT_SHD,pfam_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_ArfGAP,smart_Ankyrin_rpt,smart_GIT_SHD,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_ArfGAP,prints_ArfGAP - no_errors GIT2 HGNC ENSG00000139436 122 0 0 69 41 37.2727 ATXN2 0 genome.wustl.edu 37 12 111953972 111953972 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 111953972 111953972 C T SNP ATXN2 ENST00000377617 human ensembl 74_37 -1 known missense c.1841 p.R614H 1.000 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2 HGNC ENSG00000204842 60 0 0 45 30 40 NAA25 0 genome.wustl.edu 37 12 112528572 112528572 + Missense_Mutation SNP A A C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 112528572 112528572 A C SNP NAA25 ENST00000261745 human ensembl 74_37 -1 known missense c.241 p.S81A 1.000 pfscan_TPR-contain_dom pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom - no_errors NAA25 HGNC ENSG00000111300 185 0 0 118 84 41.5842 RPH3A 0 genome.wustl.edu 37 12 113328684 113328684 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 113328684 113328684 C T SNP RPH3A ENST00000389385 human ensembl 74_37 +1 known missense c.1651 p.R551C 0.994 superfamily_C2_dom pfam_C2_dom,pfam_Znf_FYVE-typ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom - no_errors RPH3A HGNC ENSG00000089169 36 0 0 25 8 24.2424 OAS1 0 genome.wustl.edu 37 12 113354353 113354353 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 113354353 113354353 C T SNP OAS1 ENST00000445409 human ensembl 74_37 +1 known silent c.694 p.L232 1.000 pfam_2-5-oligoAdlate_synth_1_dom2/C pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS1 HGNC ENSG00000089127 91 0 0 75 31 29.2453 OAS3 0 genome.wustl.edu 37 12 113405786 113405786 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 113405786 113405786 G A SNP OAS3 ENST00000228928 human ensembl 74_37 +1 known missense c.2911 p.G971R 0.176 pfam_2-5-oligoAdlate_synth_1_dom2/C pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS3 HGNC ENSG00000111331 73 0 0 60 27 31.0345 DTX1 0 genome.wustl.edu 37 12 113496004 113496004 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 113496004 113496004 C T SNP DTX1 ENST00000257600 human ensembl 74_37 +1 known missense c.7 p.R3W 0.993 NULL pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX1 HGNC ENSG00000135144 19 0 0 3 6 66.6667 DTX1 0 genome.wustl.edu 37 12 113531347 113531347 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 113531347 113531347 T C SNP DTX1 ENST00000257600 human ensembl 74_37 +1 known missense c.1007 p.M336T 1.000 NULL pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX1 HGNC ENSG00000135144 16 0 0 23 7 23.3333 IQCD 0 genome.wustl.edu 37 12 113633672 113633672 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 113633672 113633672 G A SNP IQCD ENST00000416617 human ensembl 74_37 -1 known missense c.1058 p.A353V 0.000 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCD HGNC ENSG00000166578 93 0 0 77 60 43.7956 TPCN1 0 genome.wustl.edu 37 12 113733834 113733834 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 113733834 113733834 G A SNP TPCN1 ENST00000541517 human ensembl 74_37 +1 known missense c.2620 p.A874T 0.000 NULL pfam_Ion_trans_dom - no_errors TPCN1 HGNC ENSG00000186815 52 0 0 30 26 46.4286 MED13L 0 genome.wustl.edu 37 12 116429759 116429759 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 116429759 116429759 G A SNP MED13L ENST00000281928 human ensembl 74_37 -1 known silent c.3000 p.N1000 0.807 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13L HGNC ENSG00000123066 31 0 0 19 17 47.2222 FBXO21 0 genome.wustl.edu 37 12 117584029 117584029 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 117584029 117584029 G A SNP FBXO21 ENST00000330622 human ensembl 74_37 -1 known missense c.1750 p.R584C 1.000 pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,tigrfam_Hemimethylated_DNA-bd_dom pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,superfamily_F-box_dom,tigrfam_Hemimethylated_DNA-bd_dom - no_errors FBXO21 HGNC ENSG00000135108 118 0 0 79 51 39.2308 NOS1 0 genome.wustl.edu 37 12 117723956 117723956 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 117723956 117723956 G A SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known missense c.1243 p.R415W 0.997 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 111 0 0 95 49 34.0278 CIT 0 genome.wustl.edu 37 12 120156546 120156546 + Missense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 120156546 120156546 G T SNP CIT ENST00000261833 human ensembl 74_37 -1 known missense c.3835 p.L1279I 1.000 pirsf_Citron_Rho-interacting_kinase pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,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,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CIT HGNC ENSG00000122966 118 1 0.840336 89 61 40.6667 RAB35 0 genome.wustl.edu 37 12 120536951 120536951 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 120536951 120536951 G A SNP RAB35 ENST00000229340 human ensembl 74_37 -1 known missense c.235 p.R79W 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB35 HGNC ENSG00000111737 91 0 0 56 27 32.5301 MSI1 0 genome.wustl.edu 37 12 120784005 120784005 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 120784005 120784005 G A SNP MSI1 ENST00000257552 human ensembl 74_37 -1 known missense c.980 p.S327L 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MSI1 HGNC ENSG00000135097 10 0 0 6 5 45.4545 VPS37B 0 genome.wustl.edu 37 12 123351700 123351700 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 123351700 123351700 C T SNP VPS37B ENST00000267202 human ensembl 74_37 -1 known missense c.821 p.R274Q 0.999 NULL pfam_Mod_r - no_errors VPS37B HGNC ENSG00000139722 18 0 0 19 14 42.4242 SNRNP35 0 genome.wustl.edu 37 12 123950395 123950395 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 123950395 123950395 G A SNP SNRNP35 ENST00000412157 human ensembl 74_37 +1 known missense c.323 p.R108H 0.994 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SNRNP35 HGNC ENSG00000184209 128 0 0 91 22 19.469 UBC 0 genome.wustl.edu 37 12 125398244 125398244 + Missense_Mutation SNP T T A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 125398244 125398244 T A SNP UBC ENST00000339647 human ensembl 74_37 -1 known missense c.74 p.N25I 1.000 pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBC HGNC ENSG00000150991 279 0 0 260 63 19.5046 DHX37 0 genome.wustl.edu 37 12 125438714 125438714 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 125438714 125438714 G A SNP DHX37 ENST00000308736 human ensembl 74_37 -1 known missense c.2497 p.R833W 0.969 pfam_Helicase-assoc_dom,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX37 HGNC ENSG00000150990 36 0 0 40 13 24.5283 RIMBP2 0 genome.wustl.edu 37 12 130926716 130926716 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 130926716 130926716 G A SNP RIMBP2 ENST00000261655 human ensembl 74_37 -1 known missense c.1130 p.S377L 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 79 0 0 44 30 40.5405 SFSWAP 0 genome.wustl.edu 37 12 132281733 132281733 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 132281733 132281733 G A SNP SFSWAP ENST00000261674 human ensembl 74_37 +1 known missense c.2545 p.E849K 1.000 NULL pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp - no_errors SFSWAP HGNC ENSG00000061936 256 0 0 209 109 34.2767 KIAA1467 0 genome.wustl.edu 37 12 13229019 13229019 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 13229019 13229019 G A SNP KIAA1467 ENST00000197268 human ensembl 74_37 +1 known silent c.1584 p.A528 0.002 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors KIAA1467 HGNC ENSG00000084444 107 0 0 96 123 56.1644 MMP17 0 genome.wustl.edu 37 12 132326280 132326280 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 132326280 132326280 C T SNP MMP17 ENST00000360564 human ensembl 74_37 +1 known missense c.818 p.P273L 0.998 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,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,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP17 HGNC ENSG00000198598 35 0 0 34 18 34.6154 MMP17 0 genome.wustl.edu 37 12 132329675 132329675 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 132329675 132329675 C T SNP MMP17 ENST00000360564 human ensembl 74_37 +1 known silent c.981 p.D327 0.888 superfamily_Hemopexin-like_dom,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,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP17 HGNC ENSG00000198598 60 0 0 47 23 32.8571 ULK1 0 genome.wustl.edu 37 12 132399752 132399752 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 132399752 132399752 C T SNP ULK1 ENST00000321867 human ensembl 74_37 +1 known missense c.1498 p.R500W 1.000 pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK1 HGNC ENSG00000177169 18 0 0 18 4 18.1818 ULK1 0 genome.wustl.edu 37 12 132402081 132402081 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 132402081 132402081 C T SNP ULK1 ENST00000321867 human ensembl 74_37 +1 known missense c.2308 p.R770C 0.067 pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK1 HGNC ENSG00000177169 14 0 0 19 5 20.8333 PGAM5 0 genome.wustl.edu 37 12 133291446 133291446 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 133291446 133291446 G A SNP PGAM5 ENST00000498926 human ensembl 74_37 +1 known missense c.194 p.R65Q 1.000 NULL pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1 - no_errors PGAM5 HGNC ENSG00000247077 124 1 0.8 22 44 66.6667 ANKLE2 0 genome.wustl.edu 37 12 133331277 133331277 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 133331277 133331277 G A SNP ANKLE2 ENST00000357997 human ensembl 74_37 -1 known silent c.624 p.D208 0.039 NULL pfam_LEM_dom,superfamily_LEM/LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM_dom - no_errors ANKLE2 HGNC ENSG00000176915 127 0 0 30 47 61.039 GRIN2B 0 genome.wustl.edu 37 12 13715904 13715904 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 13715904 13715904 G A SNP GRIN2B ENST00000609686 human ensembl 74_37 -1 known missense c.4268 p.A1423V 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 GRIN2B HGNC ENSG00000273079 95 0 0 80 34 29.8246 ATF7IP 0 genome.wustl.edu 37 12 14589054 14589054 + Nonsense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 14589054 14589054 C T SNP ATF7IP ENST00000261168 human ensembl 74_37 +1 known nonsense c.1660 p.R554* 1.000 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ATF7IP HGNC ENSG00000171681 48 0 0 49 14 22.2222 WBP11 0 genome.wustl.edu 37 12 14949857 14949857 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 14949857 14949857 G A SNP WBP11 ENST00000261167 human ensembl 74_37 -1 known missense c.271 p.R91C 1.000 pfam_WW_dom-bd_prot_11 pfam_WW_dom-bd_prot_11 - no_errors WBP11 HGNC ENSG00000084463 140 0 0 149 19 11.3095 RECQL 0 genome.wustl.edu 37 12 21644581 21644581 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 21644581 21644581 G A SNP RECQL ENST00000421138 human ensembl 74_37 -1 known missense c.86 p.T29M 0.204 NULL pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL HGNC ENSG00000004700 44 0 0 49 15 23.4375 KCNJ8 0 genome.wustl.edu 37 12 21926413 21926413 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 21926413 21926413 C T SNP KCNJ8 ENST00000240662 human ensembl 74_37 -1 known silent c.138 p.A46 1.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.1 - no_errors KCNJ8 HGNC ENSG00000121361 119 0 0 144 23 13.7725 KCNJ8 0 genome.wustl.edu 37 12 21926484 21926484 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 21926484 21926484 G A SNP KCNJ8 ENST00000240662 human ensembl 74_37 -1 known missense c.67 p.R23C 1.000 pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.1 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_Kir6.1 - no_errors KCNJ8 HGNC ENSG00000121361 108 0 0 74 108 59.3407 IQSEC3 0 genome.wustl.edu 37 12 248347 248347 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 248347 248347 C T SNP IQSEC3 ENST00000326261 human ensembl 74_37 +1 known silent c.1818 p.S606 0.000 NULL pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC3 HGNC ENSG00000120645 12 0 0 11 8 42.1053 LRMP 0 genome.wustl.edu 37 12 25232353 25232353 + Silent SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 25232353 25232353 A G SNP LRMP ENST00000354454 human ensembl 74_37 +1 known silent c.93 p.L31 0.006 pfam_MRVI1 pfam_MRVI1 - no_errors LRMP HGNC ENSG00000118308 224 0 0 286 46 13.8554 ITPR2 0 genome.wustl.edu 37 12 26634090 26634090 + Nonsense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 26634090 26634090 G A SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known nonsense c.6097 p.R2033* 0.998 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 ITPR2 HGNC ENSG00000123104 114 0 0 115 37 24.3421 STK38L 0 genome.wustl.edu 37 12 27450697 27450697 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 27450697 27450697 A G SNP STK38L ENST00000389032 human ensembl 74_37 +1 known missense c.44 p.N15S 1.000 NULL 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 STK38L HGNC ENSG00000211455 136 0 0 186 36 16.2162 DDX11 0 genome.wustl.edu 37 12 31244773 31244773 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 31244773 31244773 G A SNP DDX11 ENST00000407793 human ensembl 74_37 +1 known missense c.1210 p.G404S 0.314 pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors DDX11 HGNC ENSG00000013573 107 0 0 144 12 7.69231 DNM1L 0 genome.wustl.edu 37 12 32893374 32893374 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 32893374 32893374 G A SNP DNM1L ENST00000553257 human ensembl 74_37 +1 known missense c.1955 p.R652Q 1.000 pfam_GED,smart_GED pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_GED,prints_Dynamin_SF - no_errors DNM1L HGNC ENSG00000087470 46 0 0 39 15 27.7778 SYT10 0 genome.wustl.edu 37 12 33532867 33532867 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 33532867 33532867 C T SNP SYT10 ENST00000228567 human ensembl 74_37 -1 known missense c.1400 p.C467Y 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT10 HGNC ENSG00000110975 187 0 0 133 77 36.6667 PARP11 0 genome.wustl.edu 37 12 3938135 3938135 + Missense_Mutation SNP T T G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 3938135 3938135 T G SNP PARP11 ENST00000228820 human ensembl 74_37 -1 known missense c.209 p.N70T 1.000 pfam_WWE-dom,pfscan_WWE-dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP11 HGNC ENSG00000111224 131 0 0 179 61 25.4167 C12orf40 0 genome.wustl.edu 37 12 40044126 40044126 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 40044126 40044126 G A SNP C12orf40 ENST00000324616 human ensembl 74_37 +1 known missense c.656 p.R219Q 0.000 NULL NULL - no_errors C12orf40 HGNC ENSG00000180116 17 0 0 10 5 33.3333 CNTN1 0 genome.wustl.edu 37 12 41422874 41422874 + Silent SNP A A C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 41422874 41422874 A C SNP CNTN1 ENST00000347616 human ensembl 74_37 +1 known silent c.2833 p.R945 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN1 HGNC ENSG00000018236 193 0 0 153 87 36.25 KDM5A 0 genome.wustl.edu 37 12 422354 422354 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 422354 422354 C T SNP KDM5A ENST00000399788 human ensembl 74_37 -1 known silent c.2904 p.R968 0.969 pfam_Lys_sp_deMease_like_dom 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 66 0 0 81 38 31.9328 ANO6 0 genome.wustl.edu 37 12 45816814 45816814 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 45816814 45816814 C T SNP ANO6 ENST00000425752 human ensembl 74_37 +1 known missense c.2495 p.A832V 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO6 HGNC ENSG00000177119 121 0 0 67 49 42.2414 KDM5A 0 genome.wustl.edu 37 12 463370 463370 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 463370 463370 G A SNP KDM5A ENST00000399788 human ensembl 74_37 -1 known missense c.901 p.R301W 1.000 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 130 0 0 137 50 26.738 SLC38A4 0 genome.wustl.edu 37 12 47170743 47170743 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 47170743 47170743 G A SNP SLC38A4 ENST00000266579 human ensembl 74_37 -1 known missense c.1118 p.T373M 0.994 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A4 HGNC ENSG00000139209 113 0 0 95 53 35.8108 COL2A1 0 genome.wustl.edu 37 12 48393747 48393747 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 48393747 48393747 C T SNP COL2A1 ENST00000380518 human ensembl 74_37 -1 known missense c.247 p.G83R 1.000 pfam_VWF_C,smart_VWF_C,pfscan_VWF_C 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 COL2A1 HGNC ENSG00000139219 93 0 0 92 37 28.6822 SENP1 0 genome.wustl.edu 37 12 48440801 48440801 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 48440801 48440801 A G SNP SENP1 ENST00000004980 human ensembl 74_37 -1 known missense c.1736 p.F579S 1.000 pfam_Peptidase_C48,pfscan_Peptidase_C48 pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP1 HGNC ENSG00000079387 69 0 0 64 17 20.9877 PFKM 0 genome.wustl.edu 37 12 48529151 48529151 + Silent SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 48529151 48529151 C A SNP PFKM ENST00000312352 human ensembl 74_37 +1 known silent c.921 p.A307 1.000 pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKM HGNC ENSG00000152556 77 0 0 75 30 28.5714 CACNB3 0 genome.wustl.edu 37 12 49220151 49220151 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 49220151 49220151 G A SNP CACNB3 ENST00000301050 human ensembl 74_37 +1 known silent c.744 p.A248 0.726 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,prints_VDCC_L_bsu,prints_VDCC_L_b3su - no_errors CACNB3 HGNC ENSG00000167535 44 0 0 64 21 24.7059 MCRS1 0 genome.wustl.edu 37 12 49958367 49958367 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 49958367 49958367 C T SNP MCRS1 ENST00000357123 human ensembl 74_37 -1 known missense c.493 p.D165N 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MCRS1 HGNC ENSG00000187778 20 0 0 14 14 50 NCKAP5L 0 genome.wustl.edu 37 12 50186646 50186646 + Missense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 50186646 50186646 G T SNP NCKAP5L ENST00000335999 human ensembl 74_37 -1 known missense c.3464 p.P1155Q 0.009 NULL NULL - no_errors NCKAP5L HGNC ENSG00000167566 17 0 0 11 10 47.619 BCDIN3D 0 genome.wustl.edu 37 12 50232398 50232398 + Missense_Mutation SNP T T G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 50232398 50232398 T G SNP BCDIN3D ENST00000333924 human ensembl 74_37 -1 known missense c.635 p.K212T 1.000 pfam_Bin3 pfam_Bin3 - no_errors BCDIN3D HGNC ENSG00000186666 104 0 0 68 41 37.6147 KRT7 0 genome.wustl.edu 37 12 52629114 52629114 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 52629114 52629114 G A SNP KRT7 ENST00000331817 human ensembl 74_37 +1 known missense c.500 p.R167Q 0.002 pfam_IF,prints_Keratin_II pfam_IF,superfamily_Prefoldin,superfamily_Chorismate_mutase_type_II,prints_Keratin_II - no_errors KRT7 HGNC ENSG00000135480 66 0 0 60 30 33.3333 KRT85 0 genome.wustl.edu 37 12 52757945 52757945 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 52757945 52757945 G A SNP KRT85 ENST00000257901 human ensembl 74_37 -1 known silent c.693 p.D231 0.957 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT85 HGNC ENSG00000135443 180 0 0 156 61 28.1106 KRT72 0 genome.wustl.edu 37 12 52981619 52981619 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 52981619 52981619 G A SNP KRT72 ENST00000293745 human ensembl 74_37 -1 known missense c.1106 p.T369M 0.006 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT72 HGNC ENSG00000170486 54 0 0 31 19 38 TENC1 0 genome.wustl.edu 37 12 53449006 53449006 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 53449006 53449006 C T SNP TENC1 ENST00000314276 human ensembl 74_37 +1 known missense c.589 p.R197C 1.000 pfscan_Phosphatase_tensin-typ pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TENC1 HGNC ENSG00000111077 116 0 0 96 47 32.8671 TENC1 0 genome.wustl.edu 37 12 53453017 53453017 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 53453017 53453017 C T SNP TENC1 ENST00000314276 human ensembl 74_37 +1 known missense c.1622 p.P541L 0.979 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TENC1 HGNC ENSG00000111077 21 0 0 15 12 44.4444 MFSD5 0 genome.wustl.edu 37 12 53647601 53647601 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 53647601 53647601 A G SNP MFSD5 ENST00000534842 human ensembl 74_37 +1 known missense c.1303 p.M435V 1.000 pfam_DUF791,pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_DUF791,pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD5 HGNC ENSG00000182544 191 0 0 125 89 41.5888 MAP3K12 0 genome.wustl.edu 37 12 53878889 53878889 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 53878889 53878889 C T SNP MAP3K12 ENST00000267079 human ensembl 74_37 -1 known missense c.991 p.V331M 1.000 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,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 62 0 0 56 25 30.8642 SMUG1 0 genome.wustl.edu 37 12 54576089 54576089 + Missense_Mutation SNP C C G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 54576089 54576089 C G SNP SMUG1 ENST00000337581 human ensembl 74_37 -1 known missense c.604 p.V202L 1.000 pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like - no_errors SMUG1 HGNC ENSG00000123415 118 0 0 92 40 30.303 GPR84 0 genome.wustl.edu 37 12 54757083 54757083 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 54757083 54757083 T C SNP GPR84 ENST00000267015 human ensembl 74_37 -1 known missense c.553 p.I185V 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR84 HGNC ENSG00000139572 98 0 0 79 33 29.4643 ITGA5 0 genome.wustl.edu 37 12 54799470 54799470 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 54799470 54799470 C T SNP ITGA5 ENST00000293379 human ensembl 74_37 -1 known missense c.994 p.A332T 1.000 pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA5 HGNC ENSG00000161638 96 0 0 105 15 12.5 SMARCC2 0 genome.wustl.edu 37 12 56565506 56565506 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 56565506 56565506 G A SNP SMARCC2 ENST00000267064 human ensembl 74_37 -1 known silent c.2049 p.V683 0.985 superfamily_Chromodomain-like pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 130 0 0 114 51 30.9091 SMARCC2 0 genome.wustl.edu 37 12 56572248 56572248 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 56572248 56572248 A G SNP SMARCC2 ENST00000267064 human ensembl 74_37 -1 known missense c.1250 p.V417A 1.000 superfamily_Chromodomain-like pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 147 0 0 121 48 28.4024 SMARCC2 0 genome.wustl.edu 37 12 56572298 56572298 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 56572298 56572298 C T SNP SMARCC2 ENST00000267064 human ensembl 74_37 -1 known silent c.1200 p.T400 0.945 superfamily_Chromodomain-like pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 136 0 0 122 53 30.2857 ANKRD52 0 genome.wustl.edu 37 12 56639313 56639313 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 56639313 56639313 T C SNP ANKRD52 ENST00000267116 human ensembl 74_37 -1 known missense c.2252 p.D751G 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD52 HGNC ENSG00000139645 59 0 0 66 8 10.8108 ANO2 0 genome.wustl.edu 37 12 5674753 5674753 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 5674753 5674753 C T SNP ANO2 ENST00000356134 human ensembl 74_37 -1 known missense c.2701 p.A901T 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO2 HGNC ENSG00000047617 14 0 0 6 14 70 STAT2 0 genome.wustl.edu 37 12 56750261 56750261 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 56750261 56750261 C T SNP STAT2 ENST00000314128 human ensembl 74_37 -1 known missense c.95 p.R32Q 0.998 pfam_STAT_TF_prot_interaction,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT2 HGNC ENSG00000170581 107 0 0 67 46 40.708 ATP5B 0 genome.wustl.edu 37 12 57032994 57032994 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 57032994 57032994 C T SNP ATP5B ENST00000262030 human ensembl 74_37 -1 known missense c.1385 p.R462H 1.000 pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_F1-cplx_bsu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1_a/bsu_N,smart_AAA+_ATPase,tigrfam_ATPase_F1-cplx_bsu - no_errors ATP5B HGNC ENSG00000110955 160 0 0 100 69 40.8284 NAB2 0 genome.wustl.edu 37 12 57486315 57486315 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 57486315 57486315 C T SNP NAB2 ENST00000300131 human ensembl 74_37 +1 known missense c.1042 p.R348C 0.828 pfam_NAB_co-repressor_dom pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed - no_errors NAB2 HGNC ENSG00000166886 68 0 0 53 38 41.7582 LRP1 0 genome.wustl.edu 37 12 57587452 57587452 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 57587452 57587452 C T SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known silent c.7788 p.D2596 0.721 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_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 37 0 0 36 10 21.7391 SHMT2 0 genome.wustl.edu 37 12 57626076 57626076 + Splice_Site SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 57626076 57626076 G A SNP SHMT2 ENST00000328923 human ensembl 74_37 +1 known splice_site c.594+1 e5+1 1.000 - - - no_errors SHMT2 HGNC ENSG00000182199 115 0 0 88 67 43.2258 ARHGAP9 0 genome.wustl.edu 37 12 57868256 57868256 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 57868256 57868256 C T SNP ARHGAP9 ENST00000356411 human ensembl 74_37 -1 known missense c.1790 p.R597H 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP9 HGNC ENSG00000123329 63 0 0 49 36 42.3529 DDIT3 0 genome.wustl.edu 37 12 57910804 57910804 + Missense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 57910804 57910804 C A SNP DDIT3 ENST00000551116 human ensembl 74_37 -1 known missense c.367 p.G123W 0.000 smart_bZIP,pirsf_DNA_damage_induc_transcript_3,pfscan_bZIP pfam_bZIP,smart_bZIP,pirsf_DNA_damage_induc_transcript_3,pfscan_bZIP - no_errors DDIT3 HGNC ENSG00000175197 195 0 0 181 43 19.1964 KIF5A 0 genome.wustl.edu 37 12 57970115 57970115 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 57970115 57970115 C T SNP KIF5A ENST00000455537 human ensembl 74_37 +1 known missense c.2152 p.R718W 1.000 superfamily_Prefoldin pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5A HGNC ENSG00000155980 49 0 0 51 17 25 AVPR1A 0 genome.wustl.edu 37 12 63541204 63541204 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 63541204 63541204 T C SNP AVPR1A ENST00000299178 human ensembl 74_37 -1 known missense c.1192 p.T398A 0.006 pfam_DUF1856 pfam_GPCR_Rhodpsn,pfam_DUF1856,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_V1A_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors AVPR1A HGNC ENSG00000166148 202 0 0 143 78 35.2941 SCNN1A 0 genome.wustl.edu 37 12 6457297 6457297 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 6457297 6457297 C T SNP SCNN1A ENST00000358945 human ensembl 74_37 -1 known silent c.1818 p.L606 0.996 NULL pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1A HGNC ENSG00000111319 47 0 0 76 8 9.52381 C12orf66 0 genome.wustl.edu 37 12 64587771 64587771 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 64587771 64587771 G A SNP C12orf66 ENST00000398055 human ensembl 74_37 -1 known missense c.1189 p.R397C 1.000 pfam_DUF2003 pfam_DUF2003 - no_errors C12orf66 HGNC ENSG00000174206 192 0 0 116 84 42 C12orf66 0 genome.wustl.edu 37 12 64588374 64588374 + Missense_Mutation SNP G G C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 64588374 64588374 G C SNP C12orf66 ENST00000398055 human ensembl 74_37 -1 known missense c.586 p.H196D 1.000 pfam_DUF2003 pfam_DUF2003 - no_errors C12orf66 HGNC ENSG00000174206 62 0 0 65 12 15.5844 NCAPD2 0 genome.wustl.edu 37 12 6619909 6619909 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 6619909 6619909 G A SNP NCAPD2 ENST00000315579 human ensembl 74_37 +1 known missense c.377 p.R126H 0.970 pirsf_Condensin_cplx_su1 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 - no_errors NCAPD2 HGNC ENSG00000010292 171 0 0 115 118 50.6438 CHD4 0 genome.wustl.edu 37 12 6709063 6709063 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 6709063 6709063 C T SNP CHD4 ENST00000309577 human ensembl 74_37 -1 known missense c.1358 p.R453Q 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger 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 298 1 0.334448 340 123 26.5659 MDM2 0 genome.wustl.edu 37 12 69222698 69222698 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 69222698 69222698 C T SNP MDM2 ENST00000462284 human ensembl 74_37 +1 known missense c.671 p.T224M 0.011 superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4 pfam_SWIB_MDM2_domain,pfam_Znf_RanBP2,superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RanBP2,pfscan_Znf_RING - no_errors MDM2 HGNC ENSG00000135679 220 0 0 127 58 31.3514 TPI1 0 genome.wustl.edu 37 12 6978285 6978285 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 6978285 6978285 G A SNP TPI1 ENST00000229270 human ensembl 74_37 +1 known missense c.373 p.G125R 1.000 pfam_Triosephosphate_isomerase,superfamily_Triosephosphate_isomerase,tigrfam_Triosephosphate_isomerase pfam_Triosephosphate_isomerase,superfamily_Triosephosphate_isomerase,tigrfam_Triosephosphate_isomerase - no_errors TPI1 HGNC ENSG00000111669 278 0 0 347 52 13.0326 TBC1D15 0 genome.wustl.edu 37 12 72312239 72312239 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 72312239 72312239 G A SNP TBC1D15 ENST00000550746 human ensembl 74_37 +1 known missense c.1561 p.D521N 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_DUF3548,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D15 HGNC ENSG00000121749 207 0 0 189 29 13.3028 ACSM4 0 genome.wustl.edu 37 12 7480936 7480936 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 7480936 7480936 C T SNP ACSM4 ENST00000399422 human ensembl 74_37 +1 novel silent c.1710 p.N570 0.994 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSM4 HGNC ENSG00000215009 9 0 0 7 6 46.1538 CD163L1 0 genome.wustl.edu 37 12 7527057 7527057 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 7527057 7527057 G A SNP CD163L1 ENST00000313599 human ensembl 74_37 -1 known silent c.3390 p.D1130 0.998 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD163L1 HGNC ENSG00000177675 99 0 0 114 43 27.3885 CD163L1 0 genome.wustl.edu 37 12 7527911 7527911 + Silent SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 7527911 7527911 A G SNP CD163L1 ENST00000313599 human ensembl 74_37 -1 known silent c.2967 p.C989 0.655 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD163L1 HGNC ENSG00000177675 105 0 0 148 18 10.8434 FAM90A1 0 genome.wustl.edu 37 12 8375278 8375278 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 8375278 8375278 C T SNP FAM90A1 ENST00000307435 human ensembl 74_37 -1 known missense c.535 p.V179I 0.001 NULL NULL - no_errors FAM90A1 HGNC ENSG00000171847 89 0 0 72 63 46.6667 KITLG 0 genome.wustl.edu 37 12 88912486 88912486 + Missense_Mutation SNP T T G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 88912486 88912486 T G SNP KITLG ENST00000228280 human ensembl 74_37 -1 known missense c.351 p.E117D 0.001 pfam_SCF,superfamily_4_helix_cytokine-like_core,pirsf_SCF pfam_SCF,superfamily_4_helix_cytokine-like_core,pirsf_SCF - no_errors KITLG HGNC ENSG00000049130 152 0 0 115 33 22.2973 PZP 0 genome.wustl.edu 37 12 9346768 9346768 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 9346768 9346768 C T SNP PZP ENST00000261336 human ensembl 74_37 -1 known missense c.1159 p.A387T 0.003 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,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 PZP HGNC ENSG00000126838 145 0 0 182 54 22.8814 PZP 0 genome.wustl.edu 37 12 9354947 9354947 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 9354947 9354947 C T SNP PZP ENST00000261336 human ensembl 74_37 -1 known missense c.448 p.V150M 0.155 pfam_A2M_N pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,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 PZP HGNC ENSG00000126838 54 0 0 54 35 39.3258 TMTC4 0 genome.wustl.edu 37 13 101287179 101287179 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 13 101287179 101287179 G A SNP TMTC4 ENST00000342624 human ensembl 74_37 -1 known silent c.1386 p.A462 0.114 NULL pfam_TPR_1,pfam_DUF1736,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC4 HGNC ENSG00000125247 105 0 0 65 45 40.9091 KDELC1 0 genome.wustl.edu 37 13 103449325 103449325 + Missense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 13 103449325 103449325 C A SNP KDELC1 ENST00000376004 human ensembl 74_37 -1 known missense c.217 p.V73L 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_LipoPS_modifying,pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,smart_LipoPS_modifying,pfscan_Filamin/ABP280_repeat-like - no_errors KDELC1 HGNC ENSG00000134901 147 0 0 102 57 35.8491 ARHGEF7 0 genome.wustl.edu 37 13 111935585 111935585 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 13 111935585 111935585 G A SNP ARHGEF7 ENST00000375741 human ensembl 74_37 +1 known missense c.1888 p.G630S 0.999 NULL pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain - no_errors ARHGEF7 HGNC ENSG00000102606 14 0 0 12 8 40 TUBGCP3 0 genome.wustl.edu 37 13 113213653 113213653 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 13 113213653 113213653 G A SNP TUBGCP3 ENST00000261965 human ensembl 74_37 -1 known missense c.313 p.R105C 0.992 NULL pfam_TUBGCP - no_errors TUBGCP3 HGNC ENSG00000126216 46 0 0 49 30 37.9747 DCUN1D2 0 genome.wustl.edu 37 13 114113678 114113678 + Missense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 13 114113678 114113678 G T SNP DCUN1D2 ENST00000478244 human ensembl 74_37 -1 known missense c.649 p.L217M 1.000 pfam_PONY_dom pfam_PONY_dom,superfamily_UBA-like - no_errors DCUN1D2 HGNC ENSG00000150401 228 1 0.436681 138 79 36.4055 CHAMP1 0 genome.wustl.edu 37 13 115091245 115091245 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 13 115091245 115091245 C T SNP CHAMP1 ENST00000361283 human ensembl 74_37 +1 known missense c.1928 p.A643V 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CHAMP1 HGNC ENSG00000198824 139 0 0 95 50 34.4828 MPHOSPH8 0 genome.wustl.edu 37 13 20216355 20216355 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 13 20216355 20216355 A G SNP MPHOSPH8 ENST00000414242 human ensembl 74_37 +1 known missense c.314 p.E105G 1.000 pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow pfam_Ankyrin_rpt,pfam_Chromo_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Chromo_domain/shadow - no_errors MPHOSPH8 HGNC ENSG00000196199 97 0 0 77 27 25.9615 ZMYM5 0 genome.wustl.edu 37 13 20426165 20426165 + Missense_Mutation SNP T T A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 13 20426165 20426165 T A SNP ZMYM5 ENST00000337963 human ensembl 74_37 -1 known missense c.156 p.E52D 0.996 NULL pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM5 HGNC ENSG00000132950 134 0 0 60 58 49.1525 ZMYM2 0 genome.wustl.edu 37 13 20567633 20567633 + Nonsense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 13 20567633 20567633 C T SNP ZMYM2 ENST00000382869 human ensembl 74_37 +1 known nonsense c.421 p.R141* 1.000 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM2 HGNC ENSG00000121741 142 0 0 72 55 43.3071 SKA3 0 genome.wustl.edu 37 13 21746558 21746558 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 13 21746558 21746558 T C SNP SKA3 ENST00000314759 human ensembl 74_37 -1 known missense c.251 p.E84G 0.998 NULL NULL - no_errors SKA3 HGNC ENSG00000165480 62 0 0 21 21 50 FGF9 0 genome.wustl.edu 37 13 22255181 22255181 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 13 22255181 22255181 G A SNP FGF9 ENST00000382353 human ensembl 74_37 +1 known missense c.278 p.G93D 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF9 HGNC ENSG00000102678 75 0 0 57 16 21.9178 PARP4 0 genome.wustl.edu 37 13 25017846 25017846 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 13 25017846 25017846 C T SNP PARP4 ENST00000381989 human ensembl 74_37 -1 known missense c.3389 p.R1130Q 0.618 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP4 HGNC ENSG00000102699 190 0 0 105 73 41.0112 AMER2 0 genome.wustl.edu 37 13 25745465 25745465 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 13 25745465 25745465 G A SNP AMER2 ENST00000515384 human ensembl 74_37 -1 known missense c.293 p.T98M 0.165 NULL pfam_Uncharacterised_FAM123 - no_errors AMER2 HGNC ENSG00000165566 67 0 0 29 25 46.2963 WASF3 0 genome.wustl.edu 37 13 27256954 27256954 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 13 27256954 27256954 G A SNP WASF3 ENST00000335327 human ensembl 74_37 +1 known silent c.1194 p.P398 0.019 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF3 HGNC ENSG00000132970 55 0 0 39 33 45.8333 USP12 0 genome.wustl.edu 37 13 27690720 27690720 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 13 27690720 27690720 G A SNP USP12 ENST00000282344 human ensembl 74_37 -1 known missense c.62 p.S21L 1.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP12 HGNC ENSG00000152484 59 0 0 25 24 48.9796 FRY 0 genome.wustl.edu 37 13 32758750 32758750 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 13 32758750 32758750 G A SNP FRY ENST00000380250 human ensembl 74_37 +1 known missense c.3068 p.R1023Q 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 52 0 0 24 28 53.8462 FRY 0 genome.wustl.edu 37 13 32808830 32808830 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 13 32808830 32808830 G A SNP FRY ENST00000380250 human ensembl 74_37 +1 known missense c.5647 p.A1883T 0.884 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 72 0 0 32 36 52.9412 PDS5B 0 genome.wustl.edu 37 13 33273992 33273992 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 13 33273992 33273992 G A SNP PDS5B ENST00000315596 human ensembl 74_37 +1 known missense c.1726 p.A576T 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 89 0 0 46 28 37.8378 STARD13 0 genome.wustl.edu 37 13 33704015 33704015 + Nonsense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 13 33704015 33704015 G A SNP STARD13 ENST00000336934 human ensembl 74_37 -1 known nonsense c.799 p.R267* 0.019 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD13 HGNC ENSG00000133121 143 0 0 78 65 45.4545 DCLK1 0 genome.wustl.edu 37 13 36700037 36700037 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 13 36700037 36700037 G A SNP DCLK1 ENST00000360631 human ensembl 74_37 -1 known missense c.238 p.R80W 1.000 pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK1 HGNC ENSG00000133083 112 0 0 80 22 21.5686 FREM2 0 genome.wustl.edu 37 13 39425239 39425239 + Missense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 13 39425239 39425239 G T SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.6736 p.A2246S 1.000 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 100 1 0.990099 66 19 22.3529 GTF2F2 0 genome.wustl.edu 37 13 45781604 45781604 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 13 45781604 45781604 G A SNP GTF2F2 ENST00000340473 human ensembl 74_37 +1 known missense c.350 p.R117Q 1.000 pfam_TFIIF_beta,superfamily_TFIIF_interaction,pirsf_TFIIF-beta_subgr pfam_TFIIF_beta,superfamily_TFIIF_interaction,pirsf_TFIIF-beta_subgr - no_errors GTF2F2 HGNC ENSG00000188342 63 0 0 61 21 25.6098 RB1 0 genome.wustl.edu 37 13 48936983 48936983 + Nonsense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 13 48936983 48936983 C T SNP RB1 ENST00000267163 human ensembl 74_37 +1 known nonsense c.751 p.R251* 1.000 NULL pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 100 0 0 55 46 45.5446 KPNA3 0 genome.wustl.edu 37 13 50306789 50306789 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 13 50306789 50306789 G A SNP KPNA3 ENST00000261667 human ensembl 74_37 -1 known missense c.239 p.A80V 1.000 pfam_Importin-a_IBB,superfamily_ARM-type_fold pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA3 HGNC ENSG00000102753 171 0 0 129 27 17.3077 DIAPH3 0 genome.wustl.edu 37 13 60498968 60498968 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 13 60498968 60498968 G A SNP DIAPH3 ENST00000400324 human ensembl 74_37 -1 known missense c.2111 p.S704L 0.299 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 DIAPH3 HGNC ENSG00000139734 31 0 0 13 4 23.5294 PCDH9 0 genome.wustl.edu 37 13 67477675 67477675 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 13 67477675 67477675 C T SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known silent c.3099 p.T1033 1.000 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 87 0 0 40 26 39.3939 KLHL1 0 genome.wustl.edu 37 13 70293601 70293601 + Missense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 13 70293601 70293601 C A SNP KLHL1 ENST00000377844 human ensembl 74_37 -1 known missense c.1915 p.G639C 1.000 pfam_Kelch_1,smart_Kelch_1 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 126 0 0 56 58 50.8772 BORA 0 genome.wustl.edu 37 13 73303213 73303213 + Nonsense_Mutation SNP T T A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 13 73303213 73303213 T A SNP BORA ENST00000377815 human ensembl 74_37 +1 known nonsense c.32 p.L11* 1.000 NULL prints_Aurora_borealis_protien - no_errors BORA HGNC ENSG00000136122 209 0 0 134 36 21.1765 TBC1D4 0 genome.wustl.edu 37 13 75900464 75900464 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 13 75900464 75900464 C T SNP TBC1D4 ENST00000377636 human ensembl 74_37 -1 known silent c.1902 p.P634 0.449 NULL pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D4 HGNC ENSG00000136111 67 0 0 40 24 37.5 MYCBP2 0 genome.wustl.edu 37 13 77799624 77799624 + Nonsense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 13 77799624 77799624 G A SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known nonsense c.2803 p.R935* 1.000 superfamily_RCC1/BLIP-II,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 109 0 0 49 44 47.3118 SLITRK5 0 genome.wustl.edu 37 13 88329083 88329083 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 13 88329083 88329083 G A SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known silent c.1440 p.L480 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 82 0 0 50 36 41.8605 DZIP1 0 genome.wustl.edu 37 13 96293698 96293698 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 13 96293698 96293698 G A SNP DZIP1 ENST00000347108 human ensembl 74_37 -1 known missense c.448 p.R150C 0.858 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors DZIP1 HGNC ENSG00000134874 50 0 0 27 30 52.6316 UGGT2 0 genome.wustl.edu 37 13 96665656 96665656 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 13 96665656 96665656 C T SNP UGGT2 ENST00000376747 human ensembl 74_37 -1 known missense c.565 p.E189K 1.000 NULL pfam_UDP-g_GGtrans,pfam_Glyco_trans_8 - no_errors UGGT2 HGNC ENSG00000102595 66 0 0 43 18 29.5082 MBNL2 0 genome.wustl.edu 37 13 98009776 98009776 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 13 98009776 98009776 A G SNP MBNL2 ENST00000376673 human ensembl 74_37 +1 known missense c.845 p.Q282R 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors MBNL2 HGNC ENSG00000139793 182 0 0 131 41 23.8372 CYP46A1 0 genome.wustl.edu 37 14 100165852 100165852 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 100165852 100165852 C T SNP CYP46A1 ENST00000261835 human ensembl 74_37 +1 known missense c.332 p.A111V 0.042 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 - no_errors CYP46A1 HGNC ENSG00000036530 388 0 0 113 365 76.3598 DEGS2 0 genome.wustl.edu 37 14 100615561 100615561 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 100615561 100615561 G A SNP DEGS2 ENST00000305631 human ensembl 74_37 -1 known missense c.569 p.T190M 0.058 pfam_Fatty_acid_desaturase-1,pirsf_Sphingolipid_d4-desaturase pfam_Fatty_acid_desaturase-1,pfam_Sphingolipid_d4-desaturase_N,pirsf_Sphingolipid_d4-desaturase - no_errors DEGS2 HGNC ENSG00000168350 75 0 0 19 84 81.5534 DYNC1H1 0 genome.wustl.edu 37 14 102478440 102478440 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 102478440 102478440 G A SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known missense c.6847 p.V2283M 0.997 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 121 0 0 154 31 16.7568 DYNC1H1 0 genome.wustl.edu 37 14 102516461 102516461 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 102516461 102516461 G A SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known missense c.13738 p.A4580T 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 86 0 0 68 39 36.4486 TRAF3 0 genome.wustl.edu 37 14 103342016 103342016 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 103342016 103342016 G A SNP TRAF3 ENST00000392745 human ensembl 74_37 +1 known missense c.353 p.R118Q 1.000 superfamily_TRAF-like,pirsf_TNF_rcpt--assoc_TRAF pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF3 HGNC ENSG00000131323 173 0 0 54 140 72.1649 CKB 0 genome.wustl.edu 37 14 103988481 103988481 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 103988481 103988481 G A SNP CKB ENST00000348956 human ensembl 74_37 -1 known missense c.227 p.A76V 1.000 pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N - no_errors CKB HGNC ENSG00000166165 18 0 0 14 10 41.6667 SIVA1 0 genome.wustl.edu 37 14 105222982 105222982 + Nonsense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 105222982 105222982 C T SNP SIVA1 ENST00000329967 human ensembl 74_37 +1 known nonsense c.355 p.R119* 0.303 pfam_Siva_cd27-bd,pirsf_Siva_cd27-bd pfam_Siva_cd27-bd,pirsf_Siva_cd27-bd - no_errors SIVA1 HGNC ENSG00000184990 69 0 0 18 70 79.5455 CEP170B 0 genome.wustl.edu 37 14 105355887 105355887 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 105355887 105355887 T C SNP CEP170B ENST00000453495 human ensembl 74_37 +1 known missense c.3778 p.S1260P 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170B HGNC ENSG00000099814 24 0 0 21 6 22.2222 AHNAK2 0 genome.wustl.edu 37 14 105414483 105414483 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 105414483 105414483 C T SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.7305 p.T2435 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 274 0 0 94 240 71.8563 CDCA4 0 genome.wustl.edu 37 14 105477987 105477987 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 105477987 105477987 G A SNP CDCA4 ENST00000336219 human ensembl 74_37 -1 known missense c.280 p.R94C 1.000 NULL pfam_SERTA,pfscan_SERTA - no_errors CDCA4 HGNC ENSG00000170779 60 0 0 16 40 71.4286 ENSG00000244306 0 genome.wustl.edu 37 14 19856986 19856986 + RNA SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 19856986 19856986 G A SNP ENSG00000244306 ENST00000551334 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CTD-2314B22.3 Clone_based_vega_gene ENSG00000244306 106 0 0 86 7 7.52688 OR4M1 0 genome.wustl.edu 37 14 20248864 20248864 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 20248864 20248864 G A SNP OR4M1 ENST00000315957 human ensembl 74_37 +1 known missense c.383 p.R128Q 0.299 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4M1 HGNC ENSG00000176299 274 0 0 287 67 18.9266 OR4K2 0 genome.wustl.edu 37 14 20344587 20344587 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 20344587 20344587 A G SNP OR4K2 ENST00000298642 human ensembl 74_37 +1 known missense c.161 p.H54R 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_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K2 HGNC ENSG00000165762 378 1 0.263852 338 77 18.5542 RNASE11 0 genome.wustl.edu 37 14 21052301 21052301 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 21052301 21052301 G A SNP RNASE11 ENST00000398008 human ensembl 74_37 -1 known silent c.333 p.N111 0.000 pfam_RNaseA_domain,superfamily_RNaseA_domain pfam_RNaseA_domain,superfamily_RNaseA_domain - no_errors RNASE11 HGNC ENSG00000173464 135 0 0 128 33 20.4969 METTL3 0 genome.wustl.edu 37 14 21968680 21968680 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 21968680 21968680 C T SNP METTL3 ENST00000298717 human ensembl 74_37 -1 known missense c.1261 p.V421I 1.000 pfam_MT-A70-like,pfscan_MT-A70-like pfam_MT-A70-like,pfscan_MT-A70-like - no_errors METTL3 HGNC ENSG00000165819 105 0 0 41 99 70.7143 OR10G3 0 genome.wustl.edu 37 14 22038380 22038380 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 22038380 22038380 G A SNP OR10G3 ENST00000303532 human ensembl 74_37 -1 known missense c.496 p.R166C 0.991 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G3 HGNC ENSG00000169208 121 1 0.819672 132 34 20.4819 RNF31 0 genome.wustl.edu 37 14 24618732 24618732 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 24618732 24618732 G A SNP RNF31 ENST00000324103 human ensembl 74_37 +1 known missense c.749 p.R250H 1.000 NULL pfam_PUB_domain,pfam_Znf_C6HC,superfamily_UBA-like,superfamily_DEATH-like_dom,superfamily_Znf_FYVE_PHD,smart_Znf_RanBP2,smart_Znf_C6HC,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RanBP2 - no_errors RNF31 HGNC ENSG00000092098 174 1 0.571429 50 147 74.6193 REC8 0 genome.wustl.edu 37 14 24647327 24647327 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 24647327 24647327 C T SNP REC8 ENST00000311457 human ensembl 74_37 +1 known missense c.892 p.R298C 0.005 NULL pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu - no_errors REC8 HGNC ENSG00000100918 78 0 0 96 21 17.9487 RABGGTA 0 genome.wustl.edu 37 14 24738722 24738722 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 24738722 24738722 G A SNP RABGGTA ENST00000216840 human ensembl 74_37 -1 known silent c.606 p.R202 0.999 NULL pfam_Prenyl_trans_a,pfam_RabGGT_asu_insert-domain,pfam_Leu-rich_rpt,superfamily_RabGGT_asu_insert-domain,pfscan_Prenyl_trans_a - no_errors RABGGTA HGNC ENSG00000100949 165 0 0 143 41 22.2826 NOP9 0 genome.wustl.edu 37 14 24773247 24773247 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 24773247 24773247 G A SNP NOP9 ENST00000267425 human ensembl 74_37 +1 known missense c.1411 p.V471M 0.870 superfamily_ARM-type_fold superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt - no_errors NOP9 HGNC ENSG00000196943 69 0 0 43 26 37.6812 ADCY4 0 genome.wustl.edu 37 14 24801132 24801132 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 24801132 24801132 G A SNP ADCY4 ENST00000310677 human ensembl 74_37 -1 known silent c.531 p.N177 0.916 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY4 HGNC ENSG00000129467 10 0 0 7 12 63.1579 NFATC4 0 genome.wustl.edu 37 14 24843636 24843636 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 24843636 24843636 C T SNP NFATC4 ENST00000413692 human ensembl 74_37 +1 known missense c.2026 p.P676S 1.000 pfam_IPT,superfamily_Ig_E-set,smart_IPT,prints_NFAT pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC4 HGNC ENSG00000100968 50 0 0 20 60 75 PRKD1 0 genome.wustl.edu 37 14 30135384 30135384 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 30135384 30135384 C T SNP PRKD1 ENST00000331968 human ensembl 74_37 -1 known missense c.434 p.R145H 1.000 smart_Prot_Kinase_C-like_PE/DAG-bd pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD1 HGNC ENSG00000184304 211 0 0 51 166 76.4977 RALGAPA1 0 genome.wustl.edu 37 14 36230206 36230206 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 36230206 36230206 G A SNP RALGAPA1 ENST00000258840 human ensembl 74_37 -1 known missense c.376 p.R126W 1.000 NULL pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA1 HGNC ENSG00000174373 52 0 0 8 31 79.4872 CLEC14A 0 genome.wustl.edu 37 14 38724080 38724080 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 38724080 38724080 G A SNP CLEC14A ENST00000342213 human ensembl 74_37 -1 known missense c.1148 p.T383M 0.053 NULL superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC14A HGNC ENSG00000176435 51 0 0 49 7 12.5 MIA2 0 genome.wustl.edu 37 14 39717065 39717065 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 39717065 39717065 G A SNP MIA2 ENST00000556784 human ensembl 74_37 +1 putative silent c.1284 p.T428 0.000 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA2 HGNC ENSG00000150526 56 0 0 51 17 25 FANCM 0 genome.wustl.edu 37 14 45645327 45645327 + Missense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 45645327 45645327 C A SNP FANCM ENST00000267430 human ensembl 74_37 +1 known missense c.3370 p.P1124T 0.002 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 161 0 0 149 8 5.09554 L2HGDH 0 genome.wustl.edu 37 14 50734515 50734515 + Silent SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 50734515 50734515 G T SNP L2HGDH ENST00000267436 human ensembl 74_37 -1 known silent c.1020 p.P340 1.000 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase - no_errors L2HGDH HGNC ENSG00000087299 123 0 0 121 26 17.6871 TXNDC16 0 genome.wustl.edu 37 14 52937396 52937396 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 52937396 52937396 T C SNP TXNDC16 ENST00000281741 human ensembl 74_37 -1 known missense c.1315 p.T439A 0.960 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC16 HGNC ENSG00000087301 31 0 0 14 30 68.1818 DAAM1 0 genome.wustl.edu 37 14 59789836 59789836 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 59789836 59789836 G A SNP DAAM1 ENST00000351081 human ensembl 74_37 +1 known missense c.667 p.V223M 1.000 pfam_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin - no_errors DAAM1 HGNC ENSG00000100592 37 0 0 17 10 37.037 GPR135 0 genome.wustl.edu 37 14 59930747 59930747 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 59930747 59930747 G A SNP GPR135 ENST00000395116 human ensembl 74_37 -1 known missense c.1198 p.R400C 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR135 HGNC ENSG00000181619 62 0 0 53 20 27.3973 GPR135 0 genome.wustl.edu 37 14 59931429 59931429 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 59931429 59931429 C T SNP GPR135 ENST00000395116 human ensembl 74_37 -1 known silent c.516 p.A172 0.309 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR135 HGNC ENSG00000181619 8 0 0 8 6 42.8571 PRKCH 0 genome.wustl.edu 37 14 61923899 61923899 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 61923899 61923899 C T SNP PRKCH ENST00000332981 human ensembl 74_37 +1 known silent c.966 p.L322 0.032 pirsf_Prot_kin_PKC_delta pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKCH HGNC ENSG00000027075 52 0 0 9 29 76.3158 PLEKHG3 0 genome.wustl.edu 37 14 65194559 65194559 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 65194559 65194559 C T SNP PLEKHG3 ENST00000394691 human ensembl 74_37 +1 known silent c.210 p.N70 0.000 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 35 0 0 9 34 79.0698 SPTB 0 genome.wustl.edu 37 14 65260238 65260238 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 65260238 65260238 C T SNP SPTB ENST00000389722 human ensembl 74_37 -1 known missense c.2143 p.E715K 0.990 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTB HGNC ENSG00000070182 57 0 0 62 17 21.519 MAP3K9 0 genome.wustl.edu 37 14 71206776 71206776 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 71206776 71206776 C T SNP MAP3K9 ENST00000555993 human ensembl 74_37 -1 known missense c.1673 p.R558H 1.000 pirsf_MAPKKK9/10/11,superfamily_Kinase-like_dom pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,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 MAP3K9 HGNC ENSG00000006432 94 0 0 24 73 75.2577 MAP3K9 0 genome.wustl.edu 37 14 71209088 71209088 + Missense_Mutation SNP T T G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 71209088 71209088 T G SNP MAP3K9 ENST00000555993 human ensembl 74_37 -1 known missense c.1547 p.N516T 1.000 pirsf_MAPKKK9/10/11,superfamily_Kinase-like_dom pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,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 MAP3K9 HGNC ENSG00000006432 188 0 0 172 43 20 MAP3K9 0 genome.wustl.edu 37 14 71227784 71227784 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 71227784 71227784 C T SNP MAP3K9 ENST00000555993 human ensembl 74_37 -1 known silent c.936 p.T312 0.005 pirsf_MAPKKK9/10/11,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_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,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 MAP3K9 HGNC ENSG00000006432 95 0 0 32 89 73.5537 SIPA1L1 0 genome.wustl.edu 37 14 72139238 72139238 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 72139238 72139238 G A SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known silent c.3003 p.A1001 0.001 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 47 0 0 11 30 73.1707 TMEM63C 0 genome.wustl.edu 37 14 77708714 77708714 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 77708714 77708714 C T SNP TMEM63C ENST00000298351 human ensembl 74_37 +1 known silent c.1089 p.V363 0.001 pfam_DUF221 pfam_DUF221 - no_errors TMEM63C HGNC ENSG00000165548 286 0 0 272 65 19.2878 POMT2 0 genome.wustl.edu 37 14 77746241 77746241 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 77746241 77746241 C T SNP POMT2 ENST00000261534 human ensembl 74_37 -1 known missense c.1816 p.A606T 0.999 NULL pfam_Glyco_trans_39,pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif - no_errors POMT2 HGNC ENSG00000009830 36 0 0 33 12 26.6667 TSHR 0 genome.wustl.edu 37 14 81575006 81575006 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 81575006 81575006 G A SNP TSHR ENST00000554435 human ensembl 74_37 +1 known missense c.806 p.R269H 0.000 NULL prints_TSH_rcpt,prints_FSH_rcpt - no_errors TSHR HGNC ENSG00000165409 131 0 0 154 28 15.3846 STON2 0 genome.wustl.edu 37 14 81743649 81743649 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 81743649 81743649 G A SNP STON2 ENST00000267540 human ensembl 74_37 -1 known missense c.2006 p.A669V 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON2 HGNC ENSG00000140022 92 0 0 68 23 25.2747 NRDE2 0 genome.wustl.edu 37 14 90752830 90752830 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 90752830 90752830 G A SNP NRDE2 ENST00000354366 human ensembl 74_37 -1 known silent c.3165 p.D1055 0.000 NULL pfam_NRDE-2 - no_errors NRDE2 HGNC ENSG00000119720 38 0 0 9 48 84.2105 TTC7B 0 genome.wustl.edu 37 14 91084274 91084274 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 91084274 91084274 T C SNP TTC7B ENST00000357056 human ensembl 74_37 -1 known missense c.1867 p.S623G 1.000 NULL pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC7B HGNC ENSG00000165914 150 0 0 166 38 18.6275 GPR68 0 genome.wustl.edu 37 14 91700968 91700968 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 91700968 91700968 C T SNP GPR68 ENST00000238699 human ensembl 74_37 -1 known missense c.457 p.V153M 0.007 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_OGR1_rcpt,prints_GPCR_Rhodpsn,prints_Psych_rcpt - no_errors GPR68 HGNC ENSG00000119714 42 0 0 33 16 32.6531 CATSPERB 0 genome.wustl.edu 37 14 92159484 92159484 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 92159484 92159484 G A SNP CATSPERB ENST00000256343 human ensembl 74_37 -1 known missense c.817 p.R273C 0.000 NULL superfamily_Sialidases - no_errors CATSPERB HGNC ENSG00000133962 87 0 0 71 15 17.4419 OTUB2 0 genome.wustl.edu 37 14 94512115 94512115 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 94512115 94512115 G A SNP OTUB2 ENST00000203664 human ensembl 74_37 +1 known silent c.552 p.S184 0.068 pfam_Peptidase_C65_otubain,pirsf_Ubiquitin_thioesterase_Otubain,pfscan_OTU pfam_Peptidase_C65_otubain,pirsf_Ubiquitin_thioesterase_Otubain,pfscan_OTU - no_errors OTUB2 HGNC ENSG00000089723 45 0 0 39 16 29.0909 ATG2B 0 genome.wustl.edu 37 14 96770925 96770925 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 96770925 96770925 C T SNP ATG2B ENST00000359933 human ensembl 74_37 -1 known silent c.4749 p.S1583 0.508 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC ENSG00000066739 198 0 0 179 43 19.3694 SETD3 0 genome.wustl.edu 37 14 99865307 99865307 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 99865307 99865307 C T SNP SETD3 ENST00000331768 human ensembl 74_37 -1 known silent c.1494 p.P498 0.430 superfamily_Rubisco_LSMT_subst-bd pfam_Rubisco_LSMT_subst-bd,pfam_SET_dom,superfamily_Rubisco_LSMT_subst-bd - no_errors SETD3 HGNC ENSG00000183576 259 0 0 72 213 74.7368 DNM1P46 0 genome.wustl.edu 37 15 100339971 100339971 + RNA SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 100339971 100339971 G A SNP DNM1P46 ENST00000341853 human ensembl 74_37 -1 known rna NULL NULL 0.990 - - - no_errors DNM1P46 HGNC ENSG00000182397 35 0 0 13 22 62.8571 CERS3 0 genome.wustl.edu 37 15 101042044 101042044 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 101042044 101042044 G A SNP CERS3 ENST00000284382 human ensembl 74_37 -1 known missense c.11 p.T4M 0.056 pirsf_Longevity_assurance_LAG1_LAC1 pirsf_Longevity_assurance_LAG1_LAC1,pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_TLC-dom,pfscan_TLC-dom,pfscan_Homeobox_dom - no_errors CERS3 HGNC ENSG00000154227 104 0 0 40 32 44.4444 LRRK1 0 genome.wustl.edu 37 15 101549173 101549173 + Silent SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 101549173 101549173 C A SNP LRRK1 ENST00000388948 human ensembl 74_37 +1 known silent c.894 p.P298 0.978 smart_Leu-rich_rpt_typical-subtyp pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors LRRK1 HGNC ENSG00000154237 66 0 0 38 24 38.7097 GABRA5 0 genome.wustl.edu 37 15 27193302 27193302 + Missense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 27193302 27193302 C A SNP GABRA5 ENST00000335625 human ensembl 74_37 +1 known missense c.1311 p.F437L 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_GABBAa5_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA5 HGNC ENSG00000186297 33 0 0 19 5 20.8333 OCA2 0 genome.wustl.edu 37 15 28326980 28326980 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 28326980 28326980 G A SNP OCA2 ENST00000354638 human ensembl 74_37 -1 known missense c.41 p.A14V 0.000 NULL pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB - no_errors OCA2 HGNC ENSG00000104044 21 0 0 16 8 33.3333 HERC2 0 genome.wustl.edu 37 15 28474693 28474693 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 28474693 28474693 A G SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.5033 p.L1678P 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 201 0 0 146 45 23.5602 RYR3 0 genome.wustl.edu 37 15 33938666 33938666 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 33938666 33938666 G A SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.3880 p.V1294I 0.971 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 164 0 0 76 63 45.3237 RYR3 0 genome.wustl.edu 37 15 34118461 34118461 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 34118461 34118461 C T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.11155 p.R3719W 1.000 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 100 1 0.990099 71 15 17.4419 CHRM5 0 genome.wustl.edu 37 15 34354946 34354946 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 34354946 34354946 A G SNP CHRM5 ENST00000383263 human ensembl 74_37 +1 known missense c.28 p.T10A 0.745 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M5_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM5 HGNC ENSG00000184984 134 0 0 101 23 18.5484 MAPKBP1 0 genome.wustl.edu 37 15 42115755 42115755 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 42115755 42115755 C T SNP MAPKBP1 ENST00000456763 human ensembl 74_37 +1 known missense c.3727 p.R1243W 0.096 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MAPKBP1 HGNC ENSG00000137802 59 0 0 44 25 36.2319 JMJD7-PLA2G4B 0 genome.wustl.edu 37 15 42137955 42137955 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 42137955 42137955 C T SNP JMJD7-PLA2G4B ENST00000382448 human ensembl 74_37 +1 known missense c.2170 p.R724C 1.000 pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_JmjC_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_JmjC_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors JMJD7-PLA2G4B HGNC ENSG00000168970 75 0 0 65 12 15.5844 SPTBN5 0 genome.wustl.edu 37 15 42162711 42162711 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 42162711 42162711 G A SNP SPTBN5 ENST00000320955 human ensembl 74_37 -1 known missense c.5495 p.A1832V 0.019 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 40 0 0 39 10 20.4082 EHD4 0 genome.wustl.edu 37 15 42193248 42193248 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 42193248 42193248 C T SNP EHD4 ENST00000220325 human ensembl 74_37 -1 known silent c.1221 p.T407 0.927 NULL pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD4 HGNC ENSG00000103966 34 0 0 21 31 59.6154 TTBK2 0 genome.wustl.edu 37 15 43067378 43067378 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 43067378 43067378 C T SNP TTBK2 ENST00000267890 human ensembl 74_37 -1 known silent c.1953 p.T651 0.950 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTBK2 HGNC ENSG00000128881 140 0 0 91 26 22.2222 TGM7 0 genome.wustl.edu 37 15 43571937 43571937 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 43571937 43571937 G A SNP TGM7 ENST00000452443 human ensembl 74_37 -1 known missense c.1564 p.R522W 0.000 superfamily_Transglutaminase_C pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM7 HGNC ENSG00000159495 160 1 0.621118 122 44 26.506 ZSCAN29 0 genome.wustl.edu 37 15 43661137 43661137 + Missense_Mutation SNP T T G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 43661137 43661137 T G SNP ZSCAN29 ENST00000396976 human ensembl 74_37 -1 known missense c.507 p.K169N 1.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN29 HGNC ENSG00000140265 542 1 0.184162 419 98 18.9555 STRC 0 genome.wustl.edu 37 15 43896937 43896937 + Silent SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 43896937 43896937 C A SNP STRC ENST00000450892 human ensembl 74_37 -1 known silent c.4038 p.L1346 1.000 NULL NULL - no_errors STRC HGNC ENSG00000242866 58 0 0 49 11 18.3333 DUOX2 0 genome.wustl.edu 37 15 45386840 45386840 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 45386840 45386840 G A SNP DUOX2 ENST00000389039 human ensembl 74_37 -1 known missense c.4445 p.T1482M 1.000 pfam_Fe_red_NAD-bd_6 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,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin - no_errors DUOX2 HGNC ENSG00000140279 34 0 0 20 25 55.5556 HMGN2P46 0 genome.wustl.edu 37 15 45847976 45847976 + RNA SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 45847976 45847976 G A SNP HMGN2P46 ENST00000313559 human ensembl 74_37 +1 known rna NULL NULL 0.504 - - - no_errors HMGN2P46 HGNC ENSG00000179362 69 0 0 48 19 28.3582 FBN1 0 genome.wustl.edu 37 15 48780614 48780614 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 48780614 48780614 G A SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known silent c.3159 p.C1053 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 116 0 0 72 25 25.7732 DMXL2 0 genome.wustl.edu 37 15 51778359 51778359 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 51778359 51778359 C T SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known missense c.5393 p.R1798H 1.000 pfam_Rav1p_C pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 86 0 0 53 21 28.3784 PYGO1 0 genome.wustl.edu 37 15 55838476 55838476 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 55838476 55838476 C T SNP PYGO1 ENST00000302000 human ensembl 74_37 -1 known silent c.1005 p.S335 0.830 superfamily_Znf_FYVE_PHD pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PYGO1 HGNC ENSG00000171016 331 1 0.301205 222 57 20.4301 RNF111 0 genome.wustl.edu 37 15 59358996 59358996 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 59358996 59358996 C T SNP RNF111 ENST00000434298 human ensembl 74_37 +1 known missense c.1400 p.T467M 0.007 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF111 HGNC ENSG00000157450 127 0 0 55 46 45.5446 BNIP2 0 genome.wustl.edu 37 15 59963459 59963459 + Nonsense_Mutation SNP A A T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 59963459 59963459 A T SNP BNIP2 ENST00000267859 human ensembl 74_37 -1 known nonsense c.993 p.Y331* 1.000 superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors BNIP2 HGNC ENSG00000140299 21 0 0 11 3 21.4286 VPS13C 0 genome.wustl.edu 37 15 62217710 62217710 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 62217710 62217710 G A SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known missense c.6554 p.T2185M 0.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 26 0 0 14 5 26.3158 TLN2 0 genome.wustl.edu 37 15 63031668 63031668 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 63031668 63031668 C T SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known missense c.3809 p.A1270V 1.000 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 67 0 0 65 25 27.7778 TLN2 0 genome.wustl.edu 37 15 63047743 63047743 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 63047743 63047743 G A SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known missense c.4489 p.A1497T 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 41 0 0 25 27 51.9231 HERC1 0 genome.wustl.edu 37 15 63950833 63950833 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 63950833 63950833 C T SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known missense c.9509 p.R3170H 1.000 NULL 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 57 0 0 40 21 34.4262 HERC1 0 genome.wustl.edu 37 15 63984649 63984649 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 63984649 63984649 C T SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known missense c.5791 p.E1931K 1.000 superfamily_ARM-type_fold 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 80 0 0 43 25 36.7647 CSNK1G1 0 genome.wustl.edu 37 15 64495365 64495365 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 64495365 64495365 G A SNP CSNK1G1 ENST00000303052 human ensembl 74_37 -1 known silent c.1023 p.H341 1.000 pfam_Casein_kinase-1_gamma_C pfam_Prot_kinase_dom,pfam_Casein_kinase-1_gamma_C,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 CSNK1G1 HGNC ENSG00000169118 56 0 0 27 19 41.3043 TRIP4 0 genome.wustl.edu 37 15 64716345 64716345 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 64716345 64716345 C T SNP TRIP4 ENST00000261884 human ensembl 74_37 +1 known missense c.1474 p.R492C 1.000 pfam_ASCH_domain,superfamily_PUA-like_domain pfam_ASCH_domain,pfam_Znf_C2HC5,superfamily_PUA-like_domain - no_errors TRIP4 HGNC ENSG00000103671 97 0 0 67 17 20.2381 OAZ2 0 genome.wustl.edu 37 15 64982608 64982608 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 64982608 64982608 G A SNP OAZ2 ENST00000326005 human ensembl 74_37 -1 known silent c.318 p.I106 1.000 pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase - no_errors OAZ2 HGNC ENSG00000180304 269 0 0 210 52 19.8473 IGDCC4 0 genome.wustl.edu 37 15 65681620 65681620 + Splice_Site SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 65681620 65681620 A G SNP IGDCC4 ENST00000352385 human ensembl 74_37 -1 novel splice_site c.2536+2 e14+2 1.000 - - - no_errors IGDCC4 HGNC ENSG00000103742 57 0 0 40 14 25.9259 DENND4A 0 genome.wustl.edu 37 15 65983356 65983356 + Silent SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 65983356 65983356 A G SNP DENND4A ENST00000443035 human ensembl 74_37 -1 known silent c.3573 p.R1191 0.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat - no_errors DENND4A HGNC ENSG00000174485 26 0 0 24 3 11.1111 MEGF11 0 genome.wustl.edu 37 15 66273116 66273116 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 66273116 66273116 C T SNP MEGF11 ENST00000409699 human ensembl 74_37 -1 known silent c.762 p.T254 1.000 pfam_EGF_extracell,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom pfam_EGF_laminin,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_EMI_domain - no_errors MEGF11 HGNC ENSG00000157890 15 0 0 10 6 37.5 MYO9A 0 genome.wustl.edu 37 15 72119141 72119141 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 72119141 72119141 C T SNP MYO9A ENST00000424560 human ensembl 74_37 -1 known missense c.7640 p.G2547D 0.997 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9A HGNC ENSG00000066933 185 0 0 83 64 43.5374 CELF6 0 genome.wustl.edu 37 15 72580692 72580692 + Silent SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 72580692 72580692 A G SNP CELF6 ENST00000569547 human ensembl 74_37 -1 known silent c.1275 p.A425 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF6 Uniprot_gn ENSG00000273025 358 0 0 250 65 20.6349 PML 0 genome.wustl.edu 37 15 74315212 74315212 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 74315212 74315212 G A SNP PML ENST00000268058 human ensembl 74_37 +1 known missense c.646 p.A216T 0.991 pfscan_Znf_B-box pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC ENSG00000140464 21 0 0 9 9 50 PML 0 genome.wustl.edu 37 15 74327978 74327978 + Nonsense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 74327978 74327978 C T SNP PML ENST00000268059 human ensembl 74_37 +1 known nonsense c.2176 p.R726* 0.000 NULL pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC ENSG00000140464 160 0 0 119 27 18.4932 PML 0 genome.wustl.edu 37 15 74328197 74328197 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 74328197 74328197 C T SNP PML ENST00000268059 human ensembl 74_37 +1 known missense c.2395 p.P799S 0.008 NULL pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC ENSG00000140464 255 0 0 183 60 24.6914 CLK3 0 genome.wustl.edu 37 15 74922173 74922173 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 74922173 74922173 C T SNP CLK3 ENST00000395066 human ensembl 74_37 +1 known silent c.1866 p.G622 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 CLK3 HGNC ENSG00000179335 16 0 0 8 10 55.5556 CSPG4 0 genome.wustl.edu 37 15 75980151 75980151 + Missense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 75980151 75980151 G T SNP CSPG4 ENST00000308508 human ensembl 74_37 -1 known missense c.3255 p.D1085E 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 132 1 0.75188 96 23 19.3277 LOC645752 0 genome.wustl.edu 37 15 78212577 78212577 + RNA SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 78212577 78212577 G A SNP LOC645752 ENST00000567226 human ensembl 74_37 -1 known rna NULL NULL 0.009 - - - no_errors RP11-114H24.2 Clone_based_vega_gene ENSG00000260776 39 0 0 23 7 23.3333 IREB2 0 genome.wustl.edu 37 15 78755308 78755308 + Nonsense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 78755308 78755308 C T SNP IREB2 ENST00000258886 human ensembl 74_37 +1 known nonsense c.151 p.R51* 1.000 superfamily_Acoase/IPM_deHydtase_lsu_aba pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 - no_errors IREB2 HGNC ENSG00000136381 274 0 0 127 79 38.3495 HYKK 0 genome.wustl.edu 37 15 78825820 78825820 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 78825820 78825820 C T SNP HYKK ENST00000388988 human ensembl 74_37 +1 known silent c.930 p.C310 0.008 NULL pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom - no_errors HYKK HGNC ENSG00000188266 130 0 0 66 21 24.1379 CHRNB4 0 genome.wustl.edu 37 15 78917337 78917337 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 78917337 78917337 C T SNP CHRNB4 ENST00000412074 human ensembl 74_37 -1 putative missense c.656 p.R219H 0.000 NULL pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNB4 HGNC ENSG00000117971 21 0 0 6 7 53.8462 RASGRF1 0 genome.wustl.edu 37 15 79296445 79296445 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 79296445 79296445 G A SNP RASGRF1 ENST00000419573 human ensembl 74_37 -1 known silent c.2196 p.R732 0.108 pfam_Ras-like_Gua-exchang_fac_N,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_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 73 0 0 55 46 45.5446 MESDC2 0 genome.wustl.edu 37 15 81271690 81271690 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 81271690 81271690 C T SNP MESDC2 ENST00000261758 human ensembl 74_37 -1 known missense c.575 p.G192D 1.000 pfam_Mesoderm_development_cand-2 pfam_Mesoderm_development_cand-2 - no_errors MESDC2 HGNC ENSG00000117899 125 0 0 96 19 16.5217 STARD5 0 genome.wustl.edu 37 15 81605643 81605643 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 81605643 81605643 C T SNP STARD5 ENST00000302824 human ensembl 74_37 -1 known missense c.596 p.R199Q 0.001 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 STARD5 HGNC ENSG00000172345 150 0 0 70 50 41.6667 EFTUD1 0 genome.wustl.edu 37 15 82450185 82450185 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 82450185 82450185 G A SNP EFTUD1 ENST00000268206 human ensembl 74_37 -1 known silent c.1899 p.L633 0.997 superfamily_EFG_III-V pfam_EF_GTP-bd_dom,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_EFG_III-V,superfamily_Transl_B-barrel,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EFTUD1 HGNC ENSG00000140598 91 0 0 57 18 24 SH3GL3 0 genome.wustl.edu 37 15 84287033 84287033 + Silent SNP T T G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 84287033 84287033 T G SNP SH3GL3 ENST00000324537 human ensembl 74_37 +1 known silent c.1062 p.P354 0.996 superfamily_SH3_domain pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors SH3GL3 HGNC ENSG00000140600 101 0 0 74 12 13.9535 ADAMTSL3 0 genome.wustl.edu 37 15 84611421 84611421 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 84611421 84611421 C T SNP ADAMTSL3 ENST00000286744 human ensembl 74_37 +1 known silent c.2191 p.L731 0.997 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 100 0 0 62 35 36.0825 ZSCAN2 0 genome.wustl.edu 37 15 85164376 85164376 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 85164376 85164376 G A SNP ZSCAN2 ENST00000448803 human ensembl 74_37 +1 known missense c.950 p.R317K 0.999 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN2 HGNC ENSG00000176371 142 0 0 86 31 26.4957 ALPK3 0 genome.wustl.edu 37 15 85383049 85383049 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 85383049 85383049 G A SNP ALPK3 ENST00000258888 human ensembl 74_37 +1 known missense c.1145 p.R382H 1.000 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 ALPK3 HGNC ENSG00000136383 101 0 0 63 14 18.1818 ALPK3 0 genome.wustl.edu 37 15 85383150 85383150 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 85383150 85383150 C T SNP ALPK3 ENST00000258888 human ensembl 74_37 +1 known missense c.1246 p.R416C 1.000 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 ALPK3 HGNC ENSG00000136383 50 0 0 24 18 42.8571 AGBL1 0 genome.wustl.edu 37 15 86800191 86800191 + Silent SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 86800191 86800191 C A SNP AGBL1 ENST00000441037 human ensembl 74_37 +1 known silent c.705 p.A235 0.006 superfamily_ARM-type_fold pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 39 0 0 36 15 29.4118 ACAN 0 genome.wustl.edu 37 15 89414619 89414619 + Missense_Mutation SNP A A T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 89414619 89414619 A T SNP ACAN ENST00000439576 human ensembl 74_37 +1 known missense c.6953 p.E2318V 1.000 NULL 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 32 0 0 43 7 14 HAPLN3 0 genome.wustl.edu 37 15 89424613 89424613 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 89424613 89424613 G A SNP HAPLN3 ENST00000359595 human ensembl 74_37 -1 known silent c.468 p.S156 0.858 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link - no_errors HAPLN3 HGNC ENSG00000140511 125 0 0 101 42 29.3706 FANCI 0 genome.wustl.edu 37 15 89828432 89828432 + Nonsense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 89828432 89828432 C T SNP FANCI ENST00000310775 human ensembl 74_37 +1 known nonsense c.1804 p.R602* 1.000 NULL NULL - no_errors FANCI HGNC ENSG00000140525 182 1 0.546448 93 77 45.2941 SEMA4B 0 genome.wustl.edu 37 15 90771715 90771715 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 90771715 90771715 G A SNP SEMA4B ENST00000332496 human ensembl 74_37 +1 known missense c.2354 p.R785Q 1.000 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA4B HGNC ENSG00000185033 24 0 0 11 3 21.4286 ZNF774 0 genome.wustl.edu 37 15 90904335 90904335 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 90904335 90904335 C T SNP ZNF774 ENST00000354377 human ensembl 74_37 +1 known silent c.1272 p.I424 0.203 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF774 HGNC ENSG00000196391 69 0 0 65 4 5.7971 IQGAP1 0 genome.wustl.edu 37 15 91035845 91035845 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 91035845 91035845 C T SNP IQGAP1 ENST00000268182 human ensembl 74_37 +1 known silent c.4530 p.Y1510 0.004 pfam_RasGAP_C pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_WW_dom,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP - no_errors IQGAP1 HGNC ENSG00000140575 83 0 0 43 45 51.1364 BLM 0 genome.wustl.edu 37 15 91292843 91292843 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 91292843 91292843 G A SNP BLM ENST00000355112 human ensembl 74_37 +1 known silent c.345 p.P115 0.000 NULL pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors BLM HGNC ENSG00000197299 108 0 0 54 49 47.5728 FES 0 genome.wustl.edu 37 15 91430230 91430230 + Nonsense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 91430230 91430230 C T SNP FES ENST00000328850 human ensembl 74_37 +1 known nonsense c.427 p.R143* 0.995 pirsf_Tyr_kinase_non-rcpt_Fes_subgr,superfamily_t-SNARE 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,superfamily_t-SNARE,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 FES HGNC ENSG00000182511 46 0 0 56 8 12.5 MAN2A2 0 genome.wustl.edu 37 15 91448606 91448606 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 91448606 91448606 C T SNP MAN2A2 ENST00000360468 human ensembl 74_37 +1 known silent c.258 p.P86 0.095 NULL pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2A2 HGNC ENSG00000196547 149 0 0 88 44 33.3333 VPS33B 0 genome.wustl.edu 37 15 91553068 91553068 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 91553068 91553068 C T SNP VPS33B ENST00000333371 human ensembl 74_37 -1 known silent c.366 p.A122 0.348 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS33B HGNC ENSG00000184056 117 0 0 73 43 37.069 CHD2 0 genome.wustl.edu 37 15 93482924 93482924 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 93482924 93482924 G A SNP CHD2 ENST00000420239 human ensembl 74_37 +1 known missense c.668 p.R223H 1.000 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CHD2 HGNC ENSG00000173575 139 1 0.714286 61 54 46.9565 NR2F2 0 genome.wustl.edu 37 15 96880779 96880779 + Silent SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 96880779 96880779 C A SNP NR2F2 ENST00000394166 human ensembl 74_37 +1 known silent c.1173 p.P391 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,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_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors NR2F2 HGNC ENSG00000185551 270 0 0 218 34 13.4921 IGF1R 0 genome.wustl.edu 37 15 99440008 99440008 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 99440008 99440008 G A SNP IGF1R ENST00000268035 human ensembl 74_37 +1 known missense c.976 p.G326S 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom 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 75 0 0 51 14 21.5385 RSL1D1 0 genome.wustl.edu 37 16 11933826 11933826 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 11933826 11933826 C T SNP RSL1D1 ENST00000571133 human ensembl 74_37 -1 known missense c.872 p.R291Q 0.000 NULL pfam_Ribosomal_L1/biogenesis,superfamily_Ribosomal_L1-like - no_errors RSL1D1 HGNC ENSG00000171490 202 0 0 173 76 30.5221 TPSD1 0 genome.wustl.edu 37 16 1306689 1306689 + Splice_Site SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 1306689 1306689 G A SNP TPSD1 ENST00000211076 human ensembl 74_37 +1 known splice_site c.254+1 e2+1 0.150 - - - no_errors TPSD1 HGNC ENSG00000095917 83 0 0 37 24 39.3443 NPRL3 0 genome.wustl.edu 37 16 139794 139794 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 139794 139794 G A SNP NPRL3 ENST00000399953 human ensembl 74_37 -1 known missense c.1268 p.P423L 0.000 NULL pfam_NPR3,superfamily_Galactose-bd-like - no_errors NPRL3 HGNC ENSG00000103148 9 0 0 3 4 57.1429 CLCN7 0 genome.wustl.edu 37 16 1502843 1502843 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 1502843 1502843 G A SNP CLCN7 ENST00000382745 human ensembl 74_37 -1 known silent c.1266 p.A422 0.020 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-7 - no_errors CLCN7 HGNC ENSG00000103249 9 0 0 1 4 80 PTX4 0 genome.wustl.edu 37 16 1537873 1537873 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 1537873 1537873 C T SNP PTX4 ENST00000447419 human ensembl 74_37 -1 known silent c.240 p.A80 0.000 NULL pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors PTX4 HGNC ENSG00000251692 209 0 0 112 130 53.719 TELO2 0 genome.wustl.edu 37 16 1545568 1545568 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 1545568 1545568 G A SNP TELO2 ENST00000262319 human ensembl 74_37 +1 known missense c.557 p.R186H 0.991 NULL pfam_Telomere_length_regulation_dom,superfamily_ARM-type_fold - no_errors TELO2 HGNC ENSG00000100726 140 0 0 85 36 29.7521 NPIPA5 0 genome.wustl.edu 37 16 15457799 15457799 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 15457799 15457799 A G SNP NPIPA5 ENST00000360151 human ensembl 74_37 -1 novel missense c.770 p.I257T 0.000 NULL NULL - no_errors NPIPA5 HGNC ENSG00000183793 158 0 0 161 32 16.5803 NDE1 0 genome.wustl.edu 37 16 15788102 15788102 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 15788102 15788102 C T SNP NDE1 ENST00000396353 human ensembl 74_37 +1 known missense c.784 p.R262W 1.000 pfam_NUDE_C pfam_NUDE_C - no_errors NDE1 HGNC ENSG00000072864 33 0 0 37 10 21.2766 IFT140 0 genome.wustl.edu 37 16 1633330 1633330 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 1633330 1633330 C T SNP IFT140 ENST00000426508 human ensembl 74_37 -1 known missense c.1417 p.A473T 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT140 HGNC ENSG00000187535 51 0 0 32 7 17.9487 CRAMP1L 0 genome.wustl.edu 37 16 1710020 1710020 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 1710020 1710020 G A SNP CRAMP1L ENST00000293925 human ensembl 74_37 +1 known missense c.2369 p.R790H 0.981 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors CRAMP1L HGNC ENSG00000007545 28 0 0 10 5 33.3333 SPSB3 0 genome.wustl.edu 37 16 1828000 1828000 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 1828000 1828000 G A SNP SPSB3 ENST00000301717 human ensembl 74_37 -1 known missense c.542 p.T181M 0.998 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 51 0 0 46 14 23.3333 IGFALS 0 genome.wustl.edu 37 16 1841082 1841082 + Missense_Mutation SNP A A C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 1841082 1841082 A C SNP IGFALS ENST00000415638 human ensembl 74_37 -1 known missense c.1451 p.L484R 0.991 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors IGFALS HGNC ENSG00000099769 26 0 0 16 15 48.3871 TMC5 0 genome.wustl.edu 37 16 19492724 19492724 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 19492724 19492724 G A SNP TMC5 ENST00000396229 human ensembl 74_37 +1 known missense c.2300 p.G767D 0.868 pfam_TMC pfam_TMC - no_errors TMC5 HGNC ENSG00000103534 221 0 0 225 49 17.8832 ZNF598 0 genome.wustl.edu 37 16 2050479 2050479 + Missense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 2050479 2050479 G T SNP ZNF598 ENST00000431526 human ensembl 74_37 -1 known missense c.1205 p.P402H 0.957 NULL superfamily_PAH,smart_Znf_C2H2-like,pfscan_Znf_RING - no_errors ZNF598 HGNC ENSG00000167962 30 0 0 24 18 42.8571 DNAH3 0 genome.wustl.edu 37 16 20996750 20996750 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 20996750 20996750 G A SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known silent c.7314 p.S2438 0.593 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 39 0 0 22 15 40.5405 TMEM159 0 genome.wustl.edu 37 16 21185430 21185430 + Missense_Mutation SNP T T G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 21185430 21185430 T G SNP TMEM159 ENST00000573487 human ensembl 74_37 +1 known missense c.437 p.V146G 0.283 NULL NULL - no_errors TMEM159 HGNC ENSG00000011638 117 0 0 107 28 20.7407 ZP2 0 genome.wustl.edu 37 16 21213561 21213561 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 21213561 21213561 C T SNP ZP2 ENST00000219593 human ensembl 74_37 -1 known missense c.1151 p.S384N 0.665 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP2 HGNC ENSG00000103310 58 0 0 36 19 34.5455 TSC2 0 genome.wustl.edu 37 16 2121606 2121606 + Silent SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 2121606 2121606 C A SNP TSC2 ENST00000219476 human ensembl 74_37 +1 known silent c.1935 p.V645 1.000 pfam_Tuberin-type_domain 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 39 0 0 47 16 25.3968 USP31 0 genome.wustl.edu 37 16 23079454 23079454 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 23079454 23079454 C T SNP USP31 ENST00000219689 human ensembl 74_37 -1 known silent c.3972 p.P1324 0.385 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP31 HGNC ENSG00000103404 208 0 0 115 90 43.9024 GGA2 0 genome.wustl.edu 37 16 23504692 23504692 + Missense_Mutation SNP A A C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 23504692 23504692 A C SNP GGA2 ENST00000309859 human ensembl 74_37 -1 known missense c.340 p.L114V 0.674 pfam_VHS,superfamily_ENTH_VHS,smart_VHS_subgr,pfscan_VHS pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ENTH_VHS,superfamily_Coatomer/clathrin_app_Ig-like,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA2 HGNC ENSG00000103365 79 0 0 68 27 28.4211 TNRC6A 0 genome.wustl.edu 37 16 24788435 24788435 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 24788435 24788435 G A SNP TNRC6A ENST00000395799 human ensembl 74_37 +1 known silent c.345 p.P115 0.006 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 52 0 0 44 7 13.7255 TBC1D24 0 genome.wustl.edu 37 16 2546268 2546268 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 2546268 2546268 G A SNP TBC1D24 ENST00000293970 human ensembl 74_37 +1 known missense c.119 p.R40H 1.000 NULL pfam_TLDc,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,smart_TLDc - no_errors TBC1D24 HGNC ENSG00000162065 66 0 0 60 18 23.0769 AMDHD2 0 genome.wustl.edu 37 16 2577803 2577803 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 2577803 2577803 C T SNP AMDHD2 ENST00000413459 human ensembl 74_37 +1 known missense c.445 p.R149W 0.955 superfamily_Metal-dep_hydrolase_composite pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite - no_errors AMDHD2 HGNC ENSG00000162066 22 0 0 20 8 28.5714 SULT1A2 0 genome.wustl.edu 37 16 28606997 28606997 + Splice_Site SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 28606997 28606997 C A SNP SULT1A2 ENST00000335715 human ensembl 74_37 -1 known splice_site c.149-1 e2-1 1.000 - - - no_errors SULT1A2 HGNC ENSG00000197165 97 0 0 108 13 10.7438 SULT1A1 0 genome.wustl.edu 37 16 28619925 28619925 + Splice_Site SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 28619925 28619925 C A SNP SULT1A1 ENST00000314752 human ensembl 74_37 -1 known splice_site c.149-1 e2-1 1.000 - - - no_errors SULT1A1 HGNC ENSG00000196502 53 0 0 33 19 36.5385 TUFM 0 genome.wustl.edu 37 16 28857350 28857350 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 28857350 28857350 G A SNP TUFM ENST00000313511 human ensembl 74_37 -1 known missense c.130 p.R44C 0.993 NULL pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EFTu/EF1A_bac/org - no_errors TUFM HGNC ENSG00000178952 68 0 0 53 13 19.697 FLYWCH1 0 genome.wustl.edu 37 16 2979879 2979879 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 2979879 2979879 G A SNP FLYWCH1 ENST00000399667 human ensembl 74_37 +1 known missense c.193 p.V65I 0.000 NULL pfam_Znf_FLYWCH - no_errors FLYWCH1 HGNC ENSG00000059122 39 0 0 37 11 22.9167 TAOK2 0 genome.wustl.edu 37 16 29996571 29996571 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 29996571 29996571 C T SNP TAOK2 ENST00000308893 human ensembl 74_37 +1 known missense c.1460 p.A487V 0.996 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TAOK2 HGNC ENSG00000149930 175 0 0 151 71 31.982 SEPHS2 0 genome.wustl.edu 37 16 30455815 30455815 + Nonsense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 30455815 30455815 G A SNP SEPHS2 ENST00000542752 human ensembl 74_37 -1 known nonsense c.1063 p.R355* 1.000 pfam_AIR_synth_C_dom,superfamily_AIR_synth_C_dom,pirsf_SelD,tigrfam_SelD pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD - no_errors SEPHS2 HGNC ENSG00000179918 88 0 0 72 36 33.3333 ZNF764 0 genome.wustl.edu 37 16 30566704 30566704 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 30566704 30566704 C T SNP ZNF764 ENST00000252797 human ensembl 74_37 -1 known silent c.1038 p.P346 0.300 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 ZNF764 HGNC ENSG00000169951 15 0 0 5 10 66.6667 ZNF764 0 genome.wustl.edu 37 16 30566822 30566822 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 30566822 30566822 C T SNP ZNF764 ENST00000252797 human ensembl 74_37 -1 known missense c.920 p.R307H 0.999 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 ZNF764 HGNC ENSG00000169951 14 0 0 17 14 45.1613 ZNF785 0 genome.wustl.edu 37 16 30594308 30594308 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 30594308 30594308 C T SNP ZNF785 ENST00000395216 human ensembl 74_37 -1 known missense c.791 p.R264H 0.054 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 ZNF785 HGNC ENSG00000197162 55 0 0 41 21 33.871 CLDN6 0 genome.wustl.edu 37 16 3065782 3065782 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 3065782 3065782 G A SNP CLDN6 ENST00000328796 human ensembl 74_37 -1 known missense c.241 p.R81C 0.938 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin6 - no_errors CLDN6 HGNC ENSG00000184697 100 0 0 34 41 54.6667 SRCAP 0 genome.wustl.edu 37 16 30732215 30732215 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 30732215 30732215 G A SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known missense c.3169 p.G1057R 0.073 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 118 0 0 120 25 17.2414 SRCAP 0 genome.wustl.edu 37 16 30734042 30734042 + Missense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 30734042 30734042 C A SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known missense c.3865 p.L1289I 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 260 0 0 243 137 36.0526 SRCAP 0 genome.wustl.edu 37 16 30744600 30744600 + Splice_Site SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 30744600 30744600 G A SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known splice_site c.6128-1 e26-1 1.000 - - - no_errors SRCAP HGNC ENSG00000080603 85 0 0 106 28 20.8955 RNF40 0 genome.wustl.edu 37 16 30785352 30785352 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 30785352 30785352 C T SNP RNF40 ENST00000324685 human ensembl 74_37 +1 known missense c.2923 p.R975C 1.000 smart_Znf_RING,pfscan_Znf_RING smart_Znf_RING,pfscan_Znf_RING - no_errors RNF40 HGNC ENSG00000103549 154 0 0 149 30 16.7598 ORAI3 0 genome.wustl.edu 37 16 30964716 30964716 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 30964716 30964716 G A SNP ORAI3 ENST00000318663 human ensembl 74_37 +1 known missense c.439 p.V147M 0.998 pfam_CRAC_channel pfam_CRAC_channel - no_errors ORAI3 HGNC ENSG00000175938 209 0 0 179 51 22.1739 SETD1A 0 genome.wustl.edu 37 16 30990970 30990970 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 30990970 30990970 G A SNP SETD1A ENST00000262519 human ensembl 74_37 +1 known missense c.3863 p.R1288H 1.000 NULL pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1A HGNC ENSG00000099381 28 0 0 20 16 44.4444 ZNF668 0 genome.wustl.edu 37 16 31072900 31072900 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 31072900 31072900 G A SNP ZNF668 ENST00000426488 human ensembl 74_37 -1 known missense c.1418 p.A473V 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF668 HGNC ENSG00000167394 157 0 0 160 30 15.7895 PRSS53 0 genome.wustl.edu 37 16 31099137 31099137 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 31099137 31099137 G A SNP PRSS53 ENST00000280606 human ensembl 74_37 -1 known silent c.69 p.A23 0.999 pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS53 HGNC ENSG00000151006 34 0 0 44 21 32.3077 TRIM72 0 genome.wustl.edu 37 16 31230743 31230743 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 31230743 31230743 G A SNP TRIM72 ENST00000322122 human ensembl 74_37 +1 known missense c.620 p.R207Q 0.971 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM72 HGNC ENSG00000177238 92 0 0 76 32 29.6296 ARMC5 0 genome.wustl.edu 37 16 31470964 31470964 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 31470964 31470964 T C SNP ARMC5 ENST00000408912 human ensembl 74_37 +1 known missense c.404 p.L135P 1.000 NULL superfamily_ARM-type_fold,superfamily_BTB/POZ_fold,smart_Armadillo,pfscan_Armadillo,pfscan_BTB/POZ-like - no_errors ARMC5 HGNC ENSG00000140691 21 0 0 23 7 23.3333 ITFG3 0 genome.wustl.edu 37 16 314861 314861 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 314861 314861 C T SNP ITFG3 ENST00000301678 human ensembl 74_37 +1 known missense c.1499 p.P500L 0.997 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors ITFG3 HGNC ENSG00000167930 50 0 0 20 12 37.5 SLC5A2 0 genome.wustl.edu 37 16 31501450 31501450 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 31501450 31501450 G A SNP SLC5A2 ENST00000330498 human ensembl 74_37 +1 known missense c.1691 p.R564Q 1.000 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A2 HGNC ENSG00000140675 76 0 0 71 15 17.4419 RGS11 0 genome.wustl.edu 37 16 321227 321227 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 321227 321227 G A SNP RGS11 ENST00000397770 human ensembl 74_37 -1 known silent c.837 p.D279 0.000 smart_G-protein_gamma-like_dom pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS11 HGNC ENSG00000076344 33 0 0 19 15 44.1176 ZNF263 0 genome.wustl.edu 37 16 3340004 3340004 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 3340004 3340004 G A SNP ZNF263 ENST00000219069 human ensembl 74_37 +1 known missense c.1498 p.A500T 0.993 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 59 0 0 44 8 15.3846 TRAP1 0 genome.wustl.edu 37 16 3714425 3714425 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 3714425 3714425 C T SNP TRAP1 ENST00000246957 human ensembl 74_37 -1 known silent c.1419 p.S473 0.103 pfam_Hsp90_fam,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Hsp90_fam 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 16 0 0 16 4 20 GLIS2 0 genome.wustl.edu 37 16 4382338 4382338 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 4382338 4382338 G A SNP GLIS2 ENST00000262366 human ensembl 74_37 +1 known silent c.57 p.A19 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS2 HGNC ENSG00000126603 42 0 0 25 9 26.4706 CORO7-PAM16 0 genome.wustl.edu 37 16 4457512 4457512 + Missense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 4457512 4457512 C A SNP CORO7-PAM16 ENST00000572467 human ensembl 74_37 -1 known missense c.477 p.Q159H 0.999 pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_DUF1900,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO7-PAM16 HGNC ENSG00000103426 12 0 0 2 5 71.4286 NETO2 0 genome.wustl.edu 37 16 47117523 47117523 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 47117523 47117523 G A SNP NETO2 ENST00000562435 human ensembl 74_37 -1 known missense c.1187 p.P396L 1.000 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 - no_errors NETO2 HGNC ENSG00000171208 189 1 0.526316 166 52 23.8532 ZNF500 0 genome.wustl.edu 37 16 4802835 4802835 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 4802835 4802835 C T SNP ZNF500 ENST00000219478 human ensembl 74_37 -1 known missense c.985 p.E329K 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF500 HGNC ENSG00000103199 67 0 0 68 17 20 ABCC11 0 genome.wustl.edu 37 16 48232052 48232052 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 48232052 48232052 C T SNP ABCC11 ENST00000356608 human ensembl 74_37 -1 known silent c.2217 p.S739 0.940 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC11 HGNC ENSG00000121270 134 1 0.740741 98 55 35.9477 UBN1 0 genome.wustl.edu 37 16 4903054 4903054 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 4903054 4903054 C T SNP UBN1 ENST00000262376 human ensembl 74_37 +1 known missense c.136 p.R46W 1.000 NULL NULL - no_errors UBN1 HGNC ENSG00000118900 98 0 0 77 22 22.2222 PPL 0 genome.wustl.edu 37 16 4933850 4933850 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 4933850 4933850 C T SNP PPL ENST00000345988 human ensembl 74_37 -1 known silent c.4806 p.A1602 0.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 137 0 0 56 52 48.1481 ZNF423 0 genome.wustl.edu 37 16 49670971 49670971 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 49670971 49670971 C T SNP ZNF423 ENST00000262383 human ensembl 74_37 -1 known missense c.2092 p.D698N 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 85 0 0 104 21 16.8 SALL1 0 genome.wustl.edu 37 16 51174641 51174641 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 51174641 51174641 G A SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known missense c.1492 p.R498C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 152 0 0 122 63 34.0541 NLRC5 0 genome.wustl.edu 37 16 57060074 57060074 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 57060074 57060074 G A SNP NLRC5 ENST00000262510 human ensembl 74_37 +1 known missense c.1219 p.A407T 0.541 NULL pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 206 1 0.483092 159 86 35.102 KIFC3 0 genome.wustl.edu 37 16 57794729 57794729 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 57794729 57794729 C T SNP KIFC3 ENST00000379655 human ensembl 74_37 -1 known missense c.2141 p.R714H 0.997 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC3 HGNC ENSG00000140859 85 0 0 64 31 32.6316 ZNF319 0 genome.wustl.edu 37 16 58031068 58031068 + Nonsense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 58031068 58031068 C A SNP ZNF319 ENST00000299237 human ensembl 74_37 -1 known nonsense c.1102 p.E368* 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF319 HGNC ENSG00000166188 108 0 0 104 45 30.2013 PRSS54 0 genome.wustl.edu 37 16 58324952 58324952 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 58324952 58324952 C T SNP PRSS54 ENST00000219301 human ensembl 74_37 -1 known silent c.174 p.S58 0.078 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 - no_errors PRSS54 HGNC ENSG00000103023 89 0 0 84 51 37.7778 CES4A 0 genome.wustl.edu 37 16 67042892 67042892 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 67042892 67042892 G A SNP CES4A ENST00000338718 human ensembl 74_37 +1 known missense c.1400 p.G467E 0.000 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES4A HGNC ENSG00000172824 250 0 0 167 96 36.5019 EXOC3L1 0 genome.wustl.edu 37 16 67221173 67221173 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 67221173 67221173 G A SNP EXOC3L1 ENST00000314586 human ensembl 74_37 -1 known missense c.995 p.A332V 0.000 pfam_Sec6 pfam_Sec6 - no_errors EXOC3L1 HGNC ENSG00000179044 51 0 0 44 18 29.0323 PLEKHG4 0 genome.wustl.edu 37 16 67322226 67322226 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 67322226 67322226 G A SNP PLEKHG4 ENST00000360461 human ensembl 74_37 +1 known missense c.3377 p.R1126H 0.885 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4 HGNC ENSG00000196155 145 0 0 118 81 40.7035 PSKH1 0 genome.wustl.edu 37 16 67942751 67942751 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 67942751 67942751 C T SNP PSKH1 ENST00000291041 human ensembl 74_37 +1 known silent c.99 p.D33 0.998 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 PSKH1 HGNC ENSG00000159792 81 0 0 47 33 41.25 NFATC3 0 genome.wustl.edu 37 16 68156559 68156559 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 68156559 68156559 G A SNP NFATC3 ENST00000346183 human ensembl 74_37 +1 known missense c.773 p.R258K 1.000 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC3 HGNC ENSG00000072736 110 0 0 99 16 13.913 SMPD3 0 genome.wustl.edu 37 16 68404954 68404954 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 68404954 68404954 C T SNP SMPD3 ENST00000219334 human ensembl 74_37 -1 known silent c.1131 p.Q377 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors SMPD3 HGNC ENSG00000103056 61 0 0 66 16 19.5122 TANGO6 0 genome.wustl.edu 37 16 68893837 68893837 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 68893837 68893837 A G SNP TANGO6 ENST00000261778 human ensembl 74_37 +1 known missense c.145 p.T49A 1.000 NULL pfam_DUF2435,pfam_DUF2411,superfamily_ARM-type_fold - no_errors TANGO6 HGNC ENSG00000103047 46 0 0 38 24 38.7097 HAS3 0 genome.wustl.edu 37 16 69143442 69143442 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 69143442 69143442 C T SNP HAS3 ENST00000306560 human ensembl 74_37 +1 known silent c.144 p.Y48 0.992 NULL pfam_Chitin_synth_fng,pfam_Glyco_trans_2 - no_errors HAS3 HGNC ENSG00000103044 59 0 0 65 15 18.75 ST3GAL2 0 genome.wustl.edu 37 16 70432300 70432300 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 70432300 70432300 G A SNP ST3GAL2 ENST00000342907 human ensembl 74_37 -1 known missense c.134 p.T45M 0.031 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL2 HGNC ENSG00000157350 67 0 0 74 16 17.7778 CHST4 0 genome.wustl.edu 37 16 71570700 71570700 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 71570700 71570700 C T SNP CHST4 ENST00000338482 human ensembl 74_37 +1 known silent c.120 p.P40 0.397 superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST4 HGNC ENSG00000140835 126 0 0 110 84 43.299 RHOT2 0 genome.wustl.edu 37 16 720500 720500 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 720500 720500 C T SNP RHOT2 ENST00000315082 human ensembl 74_37 +1 known silent c.483 p.Y161 0.158 pirsf_Rho_GTPase_Mt,pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase pirsf_Rho_GTPase_Mt,pfam_EF_hand_assoc_2,pfam_MIRO-like,pfam_EF_hand_assoc_1,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,pfscan_EF_hand_dom - no_errors RHOT2 HGNC ENSG00000140983 191 0 0 89 87 49.4318 RHOT2 0 genome.wustl.edu 37 16 722106 722106 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 722106 722106 C T SNP RHOT2 ENST00000315082 human ensembl 74_37 +1 known missense c.1120 p.R374W 1.000 pirsf_Rho_GTPase_Mt,pfam_EF_hand_assoc_1 pirsf_Rho_GTPase_Mt,pfam_EF_hand_assoc_2,pfam_MIRO-like,pfam_EF_hand_assoc_1,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,pfscan_EF_hand_dom - no_errors RHOT2 HGNC ENSG00000140983 255 0 0 149 112 42.9119 ZFHX3 0 genome.wustl.edu 37 16 72845839 72845839 + Nonsense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 72845839 72845839 G A SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known nonsense c.3628 p.R1210* 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 384 1 0.25974 289 196 40.4124 ZFHX3 0 genome.wustl.edu 37 16 72993280 72993280 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 72993280 72993280 G A SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known silent c.765 p.C255 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 226 0 0 167 91 35.2713 WDR24 0 genome.wustl.edu 37 16 737600 737600 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 737600 737600 G A SNP WDR24 ENST00000248142 human ensembl 74_37 -1 known silent c.1011 p.N337 0.247 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 - no_errors WDR24 HGNC ENSG00000127580 49 0 0 33 7 17.5 PSMD7 0 genome.wustl.edu 37 16 74338254 74338254 + Silent SNP A A T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 74338254 74338254 A T SNP PSMD7 ENST00000219313 human ensembl 74_37 +1 known silent c.492 p.A164 0.982 NULL pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors PSMD7 HGNC ENSG00000103035 133 0 0 102 58 36.25 GLG1 0 genome.wustl.edu 37 16 74537581 74537581 + Nonsense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 74537581 74537581 G A SNP GLG1 ENST00000205061 human ensembl 74_37 -1 known nonsense c.622 p.R208* 1.000 pfam_Cys-rich_GLG1_repeat pfam_Cys-rich_GLG1_repeat - no_errors GLG1 HGNC ENSG00000090863 221 0 0 192 54 21.9512 BCAR1 0 genome.wustl.edu 37 16 75263717 75263717 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 75263717 75263717 C T SNP BCAR1 ENST00000418647 human ensembl 74_37 -1 known missense c.2443 p.V815M 0.883 pfam_CAS_DUF3513 pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors BCAR1 HGNC ENSG00000050820 114 0 0 101 57 36.0759 KARS 0 genome.wustl.edu 37 16 75669879 75669879 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 75669879 75669879 C T SNP KARS ENST00000319410 human ensembl 74_37 -1 known silent c.684 p.P228 0.194 pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,tigrfam_Lys-tRNA-ligase_II pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pfscan_aa-tRNA-synth_II,prints_Lys-tRNA-synth_II_C,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Lys-tRNA-ligase_II - no_errors KARS HGNC ENSG00000065427 60 0 0 37 19 33.9286 CNTNAP4 0 genome.wustl.edu 37 16 76523682 76523682 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 76523682 76523682 C T SNP CNTNAP4 ENST00000307431 human ensembl 74_37 +1 known missense c.1979 p.A660V 1.000 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP4 HGNC ENSG00000152910 23 0 0 10 10 50 FAM173A 0 genome.wustl.edu 37 16 772358 772358 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 772358 772358 G A SNP FAM173A ENST00000569529 human ensembl 74_37 +1 known missense c.509 p.R170H 0.913 NULL NULL - no_errors FAM173A HGNC ENSG00000103254 16 0 0 8 5 38.4615 ADAMTS18 0 genome.wustl.edu 37 16 77356245 77356245 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 77356245 77356245 G A SNP ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known silent c.2151 p.D717 0.990 prints_Peptidase_M12B_ADAM-TS pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,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 ADAMTS18 HGNC ENSG00000140873 190 0 0 128 65 33.6788 CMIP 0 genome.wustl.edu 37 16 81694495 81694495 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 81694495 81694495 G A SNP CMIP ENST00000537098 human ensembl 74_37 +1 known missense c.688 p.A230T 1.000 NULL NULL - no_errors CMIP HGNC ENSG00000153815 427 0 0 350 181 34.0866 MLYCD 0 genome.wustl.edu 37 16 83948686 83948686 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 83948686 83948686 G A SNP MLYCD ENST00000262430 human ensembl 74_37 +1 known silent c.1074 p.S358 0.001 pfam_Malonyl_CoA_deC pfam_Malonyl_CoA_deC - no_errors MLYCD HGNC ENSG00000103150 280 0 0 285 50 14.9254 SLC38A8 0 genome.wustl.edu 37 16 84070450 84070450 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 84070450 84070450 A G SNP SLC38A8 ENST00000299709 human ensembl 74_37 -1 known missense c.245 p.V82A 0.805 pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease - no_errors SLC38A8 HGNC ENSG00000166558 32 0 0 29 18 38.2979 USP10 0 genome.wustl.edu 37 16 84812551 84812551 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 84812551 84812551 G A SNP USP10 ENST00000570191 human ensembl 74_37 +1 known missense c.2272 p.V758I 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Ataxin-2_C,pfscan_Peptidase_C19/C67 - no_errors USP10 HGNC ENSG00000103194 44 0 0 30 6 16.6667 GSE1 0 genome.wustl.edu 37 16 85689448 85689448 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 85689448 85689448 G A SNP GSE1 ENST00000253458 human ensembl 74_37 +1 known missense c.914 p.R305H 0.998 NULL pfam_GSE-like - no_errors GSE1 HGNC ENSG00000131149 61 0 0 41 30 42.2535 COX4I1 0 genome.wustl.edu 37 16 85838591 85838591 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 85838591 85838591 G A SNP COX4I1 ENST00000253452 human ensembl 74_37 +1 known missense c.122 p.R41Q 1.000 pfam_Cyt_c_oxidase_su4_fam,superfamily_Cyt_c_oxidase_su4_fam,prints_Cyt_c_oxidase_su4 pfam_Cyt_c_oxidase_su4_fam,superfamily_Cyt_c_oxidase_su4_fam,prints_Cyt_c_oxidase_su4 - no_errors COX4I1 HGNC ENSG00000131143 72 0 0 56 28 33.3333 MTHFSD 0 genome.wustl.edu 37 16 86565672 86565672 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 86565672 86565672 C T SNP MTHFSD ENST00000360900 human ensembl 74_37 -1 known missense c.1097 p.R366H 0.120 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_FTHF_cligase,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MTHFSD HGNC ENSG00000103248 18 0 0 14 9 39.1304 METTL22 0 genome.wustl.edu 37 16 8738424 8738424 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 8738424 8738424 A G SNP METTL22 ENST00000381920 human ensembl 74_37 +1 known missense c.1021 p.T341A 1.000 NULL pfam_Nicotinamide_N-MeTfrase-like - no_errors METTL22 HGNC ENSG00000067365 414 0 0 534 96 15.2381 ZC3H18 0 genome.wustl.edu 37 16 88643558 88643558 + Silent SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 88643558 88643558 G T SNP ZC3H18 ENST00000301011 human ensembl 74_37 +1 known silent c.27 p.R9 0.998 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 59 0 0 70 12 14.6341 TMEM186 0 genome.wustl.edu 37 16 8889849 8889849 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 8889849 8889849 C T SNP TMEM186 ENST00000333050 human ensembl 74_37 -1 known missense c.602 p.R201H 0.003 NULL NULL - no_errors TMEM186 HGNC ENSG00000184857 201 0 0 227 38 14.3396 CBFA2T3 0 genome.wustl.edu 37 16 88945800 88945800 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 88945800 88945800 G A SNP CBFA2T3 ENST00000268679 human ensembl 74_37 -1 known missense c.1540 p.R514C 1.000 prints_ETO pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG16 - no_errors CBFA2T3 HGNC ENSG00000129993 47 0 0 34 24 41.3793 ANKRD11 0 genome.wustl.edu 37 16 89350037 89350037 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 89350037 89350037 C T SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known silent c.2913 p.A971 0.000 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 290 0 0 225 53 19.0647 CARHSP1 0 genome.wustl.edu 37 16 8953080 8953080 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 8953080 8953080 C T SNP CARHSP1 ENST00000311052 human ensembl 74_37 -1 known missense c.106 p.G36S 1.000 NULL pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot - no_errors CARHSP1 HGNC ENSG00000153048 24 0 0 27 8 22.8571 FANCA 0 genome.wustl.edu 37 16 89805603 89805603 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 89805603 89805603 C T SNP FANCA ENST00000389301 human ensembl 74_37 -1 known missense c.4105 p.V1369M 0.104 prints_Fanconia pfam_Fanconia,prints_Fanconia - no_errors FANCA HGNC ENSG00000187741 83 0 0 76 12 13.6364 USP7 0 genome.wustl.edu 37 16 8996253 8996253 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 8996253 8996253 G A SNP USP7 ENST00000344836 human ensembl 74_37 -1 known silent c.1926 p.A642 0.016 NULL pfam_Peptidase_C19/C67,pfam_MATH,pfam_USP7_ICP0-binding_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19/C67 - no_errors USP7 HGNC ENSG00000187555 48 0 0 56 22 28.2051 DEF8 0 genome.wustl.edu 37 16 90016024 90016024 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 90016024 90016024 G A SNP DEF8 ENST00000268676 human ensembl 74_37 +1 known missense c.151 p.A51T 0.000 NULL pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DEF8 HGNC ENSG00000140995 83 0 0 56 33 37.0787 DBNDD1 0 genome.wustl.edu 37 16 90075744 90075744 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 90075744 90075744 G A SNP DBNDD1 ENST00000568838 human ensembl 74_37 -1 known silent c.486 p.V162 0.016 pfam_Dysbindin pfam_Dysbindin - no_errors DBNDD1 HGNC ENSG00000003249 115 0 0 93 69 42.5926 MYH13 0 genome.wustl.edu 37 17 10216651 10216651 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 10216651 10216651 G A SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known silent c.4005 p.H1335 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 116 0 0 87 54 38.2979 MYH3 0 genome.wustl.edu 37 17 10536067 10536067 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 10536067 10536067 C T SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known missense c.4682 p.R1561Q 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 336 0 0 232 113 32.7536 MYH3 0 genome.wustl.edu 37 17 10538859 10538859 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 10538859 10538859 C T SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known missense c.3997 p.A1333T 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 154 0 0 106 61 36.5269 ADPRM 0 genome.wustl.edu 37 17 10608653 10608653 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 10608653 10608653 A G SNP ADPRM ENST00000379774 human ensembl 74_37 +1 known missense c.410 p.H137R 0.005 pfam_PEstase_dom pfam_PEstase_dom - no_errors ADPRM HGNC ENSG00000170222 178 0 0 105 26 19.8473 DNAH9 0 genome.wustl.edu 37 17 11790241 11790241 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 11790241 11790241 G A SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.11071 p.D3691N 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 DNAH9 HGNC ENSG00000007174 120 0 0 98 47 32.4138 MYO1C 0 genome.wustl.edu 37 17 1377960 1377960 + Missense_Mutation SNP T T A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 1377960 1377960 T A SNP MYO1C ENST00000359786 human ensembl 74_37 -1 known missense c.1741 p.I581F 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1C HGNC ENSG00000197879 185 0 0 260 44 14.4737 INPP5K 0 genome.wustl.edu 37 17 1399650 1399650 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 1399650 1399650 C T SNP INPP5K ENST00000421807 human ensembl 74_37 -1 known missense c.1148 p.G383E 0.565 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5K HGNC ENSG00000132376 10 0 0 2 4 66.6667 SLC43A2 0 genome.wustl.edu 37 17 1489235 1489235 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 1489235 1489235 C T SNP SLC43A2 ENST00000382147 human ensembl 74_37 -1 known missense c.1201 p.E401K 0.998 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC43A2 HGNC ENSG00000167703 52 0 0 50 32 39.0244 SCARF1 0 genome.wustl.edu 37 17 1538542 1538542 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 1538542 1538542 C T SNP SCARF1 ENST00000263071 human ensembl 74_37 -1 known missense c.2003 p.R668Q 0.012 NULL pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors SCARF1 HGNC ENSG00000074660 28 0 0 22 14 38.8889 TVP23C 0 genome.wustl.edu 37 17 15441469 15441469 + Splice_Site SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 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 105 1 0.943396 130 7 5.10949 ZNF286A 0 genome.wustl.edu 37 17 15619679 15619679 + Missense_Mutation SNP C C G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 15619679 15619679 C G SNP ZNF286A ENST00000413242 human ensembl 74_37 +1 known missense c.641 p.S214C 0.985 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 ZNF286A HGNC ENSG00000255104 94 0 0 49 26 34.6667 PRPF8 0 genome.wustl.edu 37 17 1578462 1578462 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 1578462 1578462 A G SNP PRPF8 ENST00000304992 human ensembl 74_37 -1 known missense c.3044 p.V1015A 0.999 pfam_RRM_spliceosomal_PrP8 pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_PRO8NT,pfam_Prp8_U5-snRNA-bd,pfam_PROCT,pfam_RRM_spliceosomal_PrP8,pfam_JAB_MPN_dom,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB_MPN_dom - no_errors PRPF8 HGNC ENSG00000174231 73 0 0 67 13 16.25 RAI1 0 genome.wustl.edu 37 17 17699661 17699661 + Silent SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 17699661 17699661 A G SNP RAI1 ENST00000353383 human ensembl 74_37 +1 known silent c.3399 p.S1133 0.000 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 83 0 0 66 12 15.3846 MYO15A 0 genome.wustl.edu 37 17 18022482 18022482 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 18022482 18022482 G A SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known missense c.368 p.R123H 0.003 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 22 0 0 20 12 37.5 MYO15A 0 genome.wustl.edu 37 17 18051508 18051508 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 18051508 18051508 C T SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known silent c.6675 p.D2225 0.976 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 47 0 0 39 22 36.0656 EPN2 0 genome.wustl.edu 37 17 19237344 19237344 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 19237344 19237344 G A SNP EPN2 ENST00000314728 human ensembl 74_37 +1 known missense c.1703 p.R568Q 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 40 0 0 23 15 39.4737 MAPK7 0 genome.wustl.edu 37 17 19284526 19284526 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 19284526 19284526 G A SNP MAPK7 ENST00000308406 human ensembl 74_37 +1 known missense c.1004 p.R335H 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 MAPK7 HGNC ENSG00000166484 79 0 0 53 31 36.9048 ULK2 0 genome.wustl.edu 37 17 19720162 19720162 + Silent SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 19720162 19720162 T C SNP ULK2 ENST00000361658 human ensembl 74_37 -1 known silent c.996 p.L332 0.994 pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_dom,pfam_Ser/Thr_kinase_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK2 HGNC ENSG00000083290 106 0 0 89 19 17.5926 LOC440416 0 genome.wustl.edu 37 17 20805664 20805664 + RNA SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 20805664 20805664 C T SNP LOC440416 ENST00000577537 human ensembl 74_37 +1 known rna NULL NULL 0.772 - - - no_errors RP11-344E13.3 Clone_based_vega_gene ENSG00000233098 112 0 0 75 54 41.8605 SMG6 0 genome.wustl.edu 37 17 2203723 2203723 + Silent SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 2203723 2203723 A G SNP SMG6 ENST00000263073 human ensembl 74_37 -1 known silent c.324 p.G108 0.981 NULL pfam_EST1,smart_PIN_dom - no_errors SMG6 HGNC ENSG00000070366 340 0 0 346 62 15.1961 SGSM2 0 genome.wustl.edu 37 17 2275534 2275534 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 2275534 2275534 G A SNP SGSM2 ENST00000268989 human ensembl 74_37 +1 known missense c.1628 p.R543Q 1.000 NULL pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM2 HGNC ENSG00000141258 96 0 0 107 22 17.0543 NOS2 0 genome.wustl.edu 37 17 26084327 26084327 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 26084327 26084327 G A SNP NOS2 ENST00000313735 human ensembl 74_37 -1 known missense c.3407 p.A1136V 0.496 pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS2 HGNC ENSG00000007171 49 0 0 54 25 31.6456 NOS2 0 genome.wustl.edu 37 17 26105953 26105953 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 26105953 26105953 G A SNP NOS2 ENST00000313735 human ensembl 74_37 -1 known silent c.1134 p.I378 0.942 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS2 HGNC ENSG00000007171 117 0 0 92 52 36.1111 NLK 0 genome.wustl.edu 37 17 26370267 26370267 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 26370267 26370267 C T SNP NLK ENST00000407008 human ensembl 74_37 +1 known missense c.368 p.A123V 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 NLK HGNC ENSG00000087095 92 0 0 65 36 35.6436 VTN 0 genome.wustl.edu 37 17 26696542 26696542 + Missense_Mutation SNP A A C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 26696542 26696542 A C SNP VTN ENST00000226218 human ensembl 74_37 -1 known missense c.515 p.L172R 0.998 pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat 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 99 0 0 92 18 16.3636 SPAG5 0 genome.wustl.edu 37 17 26919486 26919486 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 26919486 26919486 C T SNP SPAG5 ENST00000321765 human ensembl 74_37 -1 known missense c.776 p.R259H 0.001 NULL NULL - no_errors SPAG5 HGNC ENSG00000076382 105 0 0 86 28 24.5614 FLOT2 0 genome.wustl.edu 37 17 27211256 27211256 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 27211256 27211256 G A SNP FLOT2 ENST00000394908 human ensembl 74_37 -1 known missense c.209 p.T70M 1.000 pfam_Band_7 pfam_Band_7,smart_Band_7 - no_errors FLOT2 HGNC ENSG00000132589 108 0 0 81 34 29.5652 DHRS13 0 genome.wustl.edu 37 17 27225700 27225700 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 27225700 27225700 C T SNP DHRS13 ENST00000378895 human ensembl 74_37 -1 known missense c.893 p.R298Q 0.984 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH - no_errors DHRS13 HGNC ENSG00000167536 28 0 0 18 11 37.931 MYO18A 0 genome.wustl.edu 37 17 27416998 27416998 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 27416998 27416998 G A SNP MYO18A ENST00000354329 human ensembl 74_37 -1 known missense c.5507 p.T1836M 1.000 pfam_Myosin_tail,superfamily_Regulat_G_prot_signal_superfam 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 54 0 0 44 30 40.5405 MYO1D 0 genome.wustl.edu 37 17 30965803 30965803 + Silent SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 30965803 30965803 A G SNP MYO1D ENST00000318217 human ensembl 74_37 -1 known silent c.2646 p.R882 1.000 pfam_Myosin_tail_2 pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1D HGNC ENSG00000176658 195 0 0 122 54 30.6818 OR1A2 0 genome.wustl.edu 37 17 3100941 3100941 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 3100941 3100941 G A SNP OR1A2 ENST00000381951 human ensembl 74_37 +1 known silent c.129 p.L43 0.411 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1A2 HGNC ENSG00000172150 350 1 0.2849 247 136 35.5091 TMEM98 0 genome.wustl.edu 37 17 31258553 31258553 + Missense_Mutation SNP A A T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 31258553 31258553 A T SNP TMEM98 ENST00000394642 human ensembl 74_37 +1 known missense c.7 p.T3S 1.000 NULL NULL - no_errors TMEM98 HGNC ENSG00000006042 12 0 0 9 3 25 TMEM98 0 genome.wustl.edu 37 17 31258602 31258602 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 31258602 31258602 C T SNP TMEM98 ENST00000394642 human ensembl 74_37 +1 known missense c.56 p.S19L 0.008 NULL NULL - no_errors TMEM98 HGNC ENSG00000006042 14 0 0 6 6 50 TMEM132E 0 genome.wustl.edu 37 17 32964376 32964376 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 32964376 32964376 C T SNP TMEM132E ENST00000321639 human ensembl 74_37 +1 known missense c.2080 p.R694C 0.643 NULL NULL - no_errors TMEM132E HGNC ENSG00000181291 161 1 0.617284 113 59 34.3023 LIG3 0 genome.wustl.edu 37 17 33319650 33319650 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 33319650 33319650 C T SNP LIG3 ENST00000378526 human ensembl 74_37 +1 known missense c.1394 p.P465L 0.974 superfamily_DNA_ligase_ATP-dep_N,tigrfam_DNA_ligase_ATP-dep pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG3 HGNC ENSG00000005156 81 0 0 78 45 36.5854 SLFN5 0 genome.wustl.edu 37 17 33592375 33592375 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 33592375 33592375 C T SNP SLFN5 ENST00000299977 human ensembl 74_37 +1 known missense c.2144 p.A715V 0.001 superfamily_P-loop_NTPase pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN5 HGNC ENSG00000166750 120 0 0 104 21 16.8 CCL18 0 genome.wustl.edu 37 17 34391748 34391748 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 34391748 34391748 G A SNP CCL18 ENST00000004921 human ensembl 74_37 +1 known missense c.46 p.A16T 0.000 superfamily_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL18 HGNC ENSG00000006074 152 0 0 128 92 41.8182 GGNBP2 0 genome.wustl.edu 37 17 34937873 34937873 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 34937873 34937873 C T SNP GGNBP2 ENST00000304718 human ensembl 74_37 +1 known missense c.1120 p.R374C 1.000 NULL NULL - no_errors GGNBP2 HGNC ENSG00000005955 89 0 0 72 42 36.8421 AATF 0 genome.wustl.edu 37 17 35413944 35413944 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 35413944 35413944 G A SNP AATF ENST00000225402 human ensembl 74_37 +1 known missense c.1663 p.D555N 0.000 NULL pfam_AATF_C - no_errors AATF HGNC ENSG00000108270 87 0 0 65 39 37.5 ACACA 0 genome.wustl.edu 37 17 35601610 35601610 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 35601610 35601610 G A SNP ACACA ENST00000353139 human ensembl 74_37 -1 known missense c.2636 p.T879M 1.000 pfam_AcCoA_COase_cen 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,pfam_Dala_Dala_lig_C,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_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 140 0 0 131 28 17.6101 ACACA 0 genome.wustl.edu 37 17 35615209 35615209 + Silent SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 35615209 35615209 A G SNP ACACA ENST00000353139 human ensembl 74_37 -1 known silent c.1587 p.F529 1.000 pfscan_Biotin_carboxylation_dom 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,pfam_Dala_Dala_lig_C,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_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 110 0 0 66 53 44.5378 MLLT6 0 genome.wustl.edu 37 17 36874180 36874180 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 36874180 36874180 T C SNP MLLT6 ENST00000325718 human ensembl 74_37 +1 known missense c.1916 p.L639P 1.000 NULL superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MLLT6 HGNC ENSG00000108292 122 1 0.813008 142 16 10.1266 STAC2 0 genome.wustl.edu 37 17 37370565 37370565 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 37370565 37370565 G A SNP STAC2 ENST00000333461 human ensembl 74_37 -1 known missense c.862 p.R288W 0.997 superfamily_SH3_domain pfam_SH3_2,pfam_SH3_domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_SH3_domain,prints_p67phox - no_errors STAC2 HGNC ENSG00000141750 107 0 0 91 55 37.6712 MED24 0 genome.wustl.edu 37 17 38182435 38182435 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 38182435 38182435 C T SNP MED24 ENST00000394128 human ensembl 74_37 -1 known silent c.1959 p.E653 1.000 pfam_Mediator_Med24_N pfam_Mediator_Med24_N - no_errors MED24 HGNC ENSG00000008838 162 0 0 137 32 18.9349 MSL1 0 genome.wustl.edu 37 17 38282638 38282638 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 38282638 38282638 G A SNP MSL1 ENST00000398532 human ensembl 74_37 +1 known missense c.971 p.R324Q 1.000 NULL NULL - no_errors MSL1 HGNC ENSG00000188895 54 0 0 47 12 20.339 RARA 0 genome.wustl.edu 37 17 38487581 38487581 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 38487581 38487581 G A SNP RARA ENST00000254066 human ensembl 74_37 +1 known silent c.111 p.P37 0.196 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 75 0 0 71 21 22.8261 ZZEF1 0 genome.wustl.edu 37 17 3921213 3921213 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 3921213 3921213 G A SNP ZZEF1 ENST00000381638 human ensembl 74_37 -1 known missense c.7558 p.R2520W 1.000 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 77 0 0 62 45 42.0561 KRT33A 0 genome.wustl.edu 37 17 39506942 39506942 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 39506942 39506942 G A SNP KRT33A ENST00000007735 human ensembl 74_37 -1 known silent c.78 p.C26 1.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT33A HGNC ENSG00000006059 53 0 0 58 29 33.3333 KAT2A 0 genome.wustl.edu 37 17 40266961 40266961 + Missense_Mutation SNP A A T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 40266961 40266961 A T SNP KAT2A ENST00000225916 human ensembl 74_37 -1 known missense c.1968 p.N656K 0.908 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,pfscan_Bromodomain,pfscan_GNAT_dom,prints_Bromodomain - no_errors KAT2A HGNC ENSG00000108773 277 0 0 266 121 31.2661 STAT5B 0 genome.wustl.edu 37 17 40369449 40369449 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 40369449 40369449 G A SNP STAT5B ENST00000293328 human ensembl 74_37 -1 known silent c.1203 p.C401 0.394 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5B HGNC ENSG00000173757 61 0 0 80 15 15.7895 PSMC3IP 0 genome.wustl.edu 37 17 40729486 40729486 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 40729486 40729486 C T SNP PSMC3IP ENST00000393795 human ensembl 74_37 -1 known missense c.128 p.G43D 1.000 pfam_TBPIP,pfam_BlaI_family pfam_TBPIP,pfam_BlaI_family - no_errors PSMC3IP HGNC ENSG00000131470 46 0 0 59 28 32.1839 TUBG1 0 genome.wustl.edu 37 17 40764454 40764454 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 40764454 40764454 C T SNP TUBG1 ENST00000251413 human ensembl 74_37 +1 known silent c.409 p.L137 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_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_Gamma_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin,prints_Alpha_tubulin - no_errors TUBG1 HGNC ENSG00000131462 238 0 0 267 52 16.3009 WNK4 0 genome.wustl.edu 37 17 40947807 40947807 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 40947807 40947807 G A SNP WNK4 ENST00000246914 human ensembl 74_37 +1 known missense c.3187 p.G1063R 0.002 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK4 HGNC ENSG00000126562 64 0 0 47 40 45.977 AOC3 0 genome.wustl.edu 37 17 41004568 41004568 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 41004568 41004568 A G SNP AOC3 ENST00000308423 human ensembl 74_37 +1 known missense c.1208 p.D403G 1.000 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC3 HGNC ENSG00000131471 107 0 0 74 34 31.4815 VAT1 0 genome.wustl.edu 37 17 41170095 41170095 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 41170095 41170095 T C SNP VAT1 ENST00000355653 human ensembl 74_37 -1 known missense c.724 p.T242A 1.000 pfam_ADH_C,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors VAT1 HGNC ENSG00000108828 178 0 0 115 68 37.1585 HDAC5 0 genome.wustl.edu 37 17 42171000 42171000 + Missense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 42171000 42171000 C A SNP HDAC5 ENST00000225983 human ensembl 74_37 -1 known missense c.300 p.Q100H 1.000 pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC5 HGNC ENSG00000108840 32 0 0 23 14 37.8378 SLC4A1 0 genome.wustl.edu 37 17 42337820 42337820 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 42337820 42337820 C T SNP SLC4A1 ENST00000262418 human ensembl 74_37 -1 known missense c.437 p.R146Q 1.000 pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,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 43 0 0 57 13 18.5714 SLC25A39 0 genome.wustl.edu 37 17 42398592 42398592 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 42398592 42398592 G A SNP SLC25A39 ENST00000377095 human ensembl 74_37 -1 known silent c.525 p.T175 0.031 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 66 0 0 52 28 35 GPATCH8 0 genome.wustl.edu 37 17 42477060 42477060 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 42477060 42477060 G A SNP GPATCH8 ENST00000591680 human ensembl 74_37 -1 known silent c.2385 p.C795 1.000 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 90 0 0 73 42 36.5217 FZD2 0 genome.wustl.edu 37 17 42636577 42636577 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 42636577 42636577 G A SNP FZD2 ENST00000315323 human ensembl 74_37 +1 known silent c.1521 p.P507 0.876 pfam_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD2 HGNC ENSG00000180340 45 0 0 40 17 29.8246 NMT1 0 genome.wustl.edu 37 17 43175800 43175800 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 43175800 43175800 G A SNP NMT1 ENST00000258960 human ensembl 74_37 +1 known missense c.764 p.R255H 1.000 pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase - no_errors NMT1 HGNC ENSG00000136448 236 0 0 171 109 38.9286 FMNL1 0 genome.wustl.edu 37 17 43314658 43314658 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 43314658 43314658 G A SNP FMNL1 ENST00000328118 human ensembl 74_37 +1 known missense c.734 p.S245N 1.000 pfam_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FMNL1 HGNC ENSG00000184922 46 0 0 34 15 30.6122 ARHGAP27 0 genome.wustl.edu 37 17 43481991 43481991 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 43481991 43481991 G A SNP ARHGAP27 ENST00000524404 human ensembl 74_37 -1 known missense c.178 p.L60F 0.003 NULL NULL - no_errors ARHGAP27 HGNC ENSG00000159314 54 0 0 48 24 33.3333 KANSL1 0 genome.wustl.edu 37 17 44108975 44108975 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 44108975 44108975 C T SNP KANSL1 ENST00000262419 human ensembl 74_37 -1 known missense c.3185 p.R1062H 1.000 NULL NULL - no_errors KANSL1 HGNC ENSG00000120071 41 0 0 31 29 48.3333 MYBBP1A 0 genome.wustl.edu 37 17 4451585 4451585 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 4451585 4451585 G A SNP MYBBP1A ENST00000381556 human ensembl 74_37 -1 known missense c.1577 p.T526M 0.000 pfam_DNA_pol_V,superfamily_ARM-type_fold pfam_DNA_pol_V,superfamily_ARM-type_fold - no_errors MYBBP1A HGNC ENSG00000132382 130 0 0 102 50 32.8947 GOSR2 0 genome.wustl.edu 37 17 45008537 45008537 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 45008537 45008537 G A SNP GOSR2 ENST00000439730 human ensembl 74_37 +1 known missense c.167 p.S56N 1.000 superfamily_t-SNARE superfamily_t-SNARE - no_errors GOSR2 HGNC ENSG00000108433 44 0 0 55 13 19.1176 ALOX15 0 genome.wustl.edu 37 17 4535278 4535278 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 4535278 4535278 G A SNP ALOX15 ENST00000545513 human ensembl 74_37 -1 known missense c.1781 p.T594M 0.023 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 60 0 0 47 25 34.7222 SCRN2 0 genome.wustl.edu 37 17 45917699 45917699 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 45917699 45917699 C T SNP SCRN2 ENST00000290216 human ensembl 74_37 -1 known missense c.214 p.A72T 1.000 pfam_Pept_C45_AAT pfam_Peptidase_C69,pfam_Pept_C45_AAT - no_errors SCRN2 HGNC ENSG00000141295 50 0 0 46 36 43.9024 PNPO 0 genome.wustl.edu 37 17 46023331 46023331 + Missense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 46023331 46023331 G T SNP PNPO ENST00000225573 human ensembl 74_37 +1 known missense c.522 p.Q174H 1.000 superfamily_Split_barrel_FMN-bd,tigrfam_Pyridox_Oxase pfam_Pyridox_Oxase_FMN-bd,pfam_Pyridoxamine_oxidase_dimer_C,superfamily_Split_barrel_FMN-bd,tigrfam_Pyridox_Oxase - no_errors PNPO HGNC ENSG00000108439 104 0 0 106 31 22.6277 ARRB2 0 genome.wustl.edu 37 17 4621918 4621918 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 4621918 4621918 G A SNP ARRB2 ENST00000269260 human ensembl 74_37 +1 known missense c.718 p.A240T 1.000 pfam_Arrestin_C-like,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin - no_errors ARRB2 HGNC ENSG00000141480 196 0 0 157 84 34.8548 NGFR 0 genome.wustl.edu 37 17 47583814 47583814 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 47583814 47583814 G A SNP NGFR ENST00000172229 human ensembl 74_37 +1 known missense c.362 p.R121H 0.000 pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_16 - no_errors NGFR HGNC ENSG00000064300 19 0 0 19 13 40.625 SPOP 0 genome.wustl.edu 37 17 47684663 47684663 + Missense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 47684663 47684663 C A SNP SPOP ENST00000347630 human ensembl 74_37 -1 known missense c.786 p.K262N 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH - no_errors SPOP HGNC ENSG00000121067 245 0 0 185 101 35.3147 COL1A1 0 genome.wustl.edu 37 17 48266814 48266814 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 48266814 48266814 C T SNP COL1A1 ENST00000225964 human ensembl 74_37 -1 known missense c.2753 p.R918H 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 COL1A1 HGNC ENSG00000108821 127 1 0.78125 107 56 34.3558 COL1A1 0 genome.wustl.edu 37 17 48275325 48275325 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 48275325 48275325 G A SNP COL1A1 ENST00000225964 human ensembl 74_37 -1 known silent c.627 p.G209 1.000 pfam_Collagen 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 COL1A1 HGNC ENSG00000108821 51 0 0 28 33 54.0984 RNF167 0 genome.wustl.edu 37 17 4848102 4848102 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 4848102 4848102 G A SNP RNF167 ENST00000262482 human ensembl 74_37 +1 known missense c.844 p.E282K 0.819 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF167 HGNC ENSG00000108523 186 1 0.534759 148 100 40.3226 CAMTA2 0 genome.wustl.edu 37 17 4872938 4872938 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 4872938 4872938 C T SNP CAMTA2 ENST00000414043 human ensembl 74_37 -1 known missense c.3317 p.R1106Q 1.000 superfamily_P-loop_NTPase 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 100 0 0 73 48 39.6694 WFIKKN2 0 genome.wustl.edu 37 17 48918374 48918374 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 48918374 48918374 G A SNP WFIKKN2 ENST00000311378 human ensembl 74_37 +1 known silent c.1725 p.L575 0.031 NULL 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 35 0 0 33 15 31.25 INCA1 0 genome.wustl.edu 37 17 4892783 4892783 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 4892783 4892783 C T SNP INCA1 ENST00000396829 human ensembl 74_37 -1 known missense c.335 p.R112Q 0.998 NULL NULL - no_errors INCA1 HGNC ENSG00000196388 404 0 0 344 120 25.8621 SPAG9 0 genome.wustl.edu 37 17 49052278 49052278 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 49052278 49052278 C T SNP SPAG9 ENST00000262013 human ensembl 74_37 -1 known missense c.3554 p.R1185H 1.000 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors SPAG9 HGNC ENSG00000008294 84 0 0 61 27 30.6818 DERL2 0 genome.wustl.edu 37 17 5383798 5383798 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 5383798 5383798 G A SNP DERL2 ENST00000158771 human ensembl 74_37 -1 known silent c.432 p.F144 0.899 pfam_DER1 pfam_DER1 - no_errors DERL2 HGNC ENSG00000072849 239 1 0.416667 186 105 36.0825 VPS53 0 genome.wustl.edu 37 17 559148 559148 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 559148 559148 G A SNP VPS53 ENST00000437048 human ensembl 74_37 -1 known missense c.418 p.R140C 1.000 pfam_Vps53_N,pfam_Vacuolar_sorting-assoc_54 pfam_Vps53_N,pfam_Vacuolar_sorting-assoc_54 - no_errors VPS53 HGNC ENSG00000141252 74 0 0 60 19 24.0506 VPS53 0 genome.wustl.edu 37 17 559154 559154 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 559154 559154 C T SNP VPS53 ENST00000437048 human ensembl 74_37 -1 known missense c.412 p.A138T 1.000 pfam_Vps53_N,pfam_Vacuolar_sorting-assoc_54 pfam_Vps53_N,pfam_Vacuolar_sorting-assoc_54 - no_errors VPS53 HGNC ENSG00000141252 75 0 0 55 20 26.6667 EPX 0 genome.wustl.edu 37 17 56280505 56280505 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 56280505 56280505 G A SNP EPX ENST00000225371 human ensembl 74_37 +1 known missense c.1772 p.R591Q 0.004 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors EPX HGNC ENSG00000121053 163 1 0.609756 122 58 32.2222 MPO 0 genome.wustl.edu 37 17 56355357 56355357 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 56355357 56355357 G A SNP MPO ENST00000340482 human ensembl 74_37 -1 known silent c.1131 p.S377 0.939 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors MPO HGNC ENSG00000005381 79 0 0 52 48 48 MTMR4 0 genome.wustl.edu 37 17 56572432 56572432 + Missense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 56572432 56572432 C A SNP MTMR4 ENST00000323456 human ensembl 74_37 -1 known missense c.3071 p.R1024M 0.994 NULL pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-sp_Pase - no_errors MTMR4 HGNC ENSG00000108389 171 0 0 162 34 17.3469 MTMR4 0 genome.wustl.edu 37 17 56573381 56573381 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 56573381 56573381 C T SNP MTMR4 ENST00000323456 human ensembl 74_37 -1 known missense c.2122 p.A708T 0.000 NULL pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-sp_Pase - no_errors MTMR4 HGNC ENSG00000108389 483 1 0.206612 340 207 37.8428 TEX14 0 genome.wustl.edu 37 17 56657025 56657025 + Splice_Site SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 56657025 56657025 C A SNP TEX14 ENST00000240361 human ensembl 74_37 -1 known splice_site c.3376+1 e20+1 0.999 - - - no_errors TEX14 HGNC ENSG00000121101 71 0 0 96 17 15.0442 WSCD1 0 genome.wustl.edu 37 17 6023841 6023841 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 6023841 6023841 C T SNP WSCD1 ENST00000317744 human ensembl 74_37 +1 known missense c.1588 p.R530W 1.000 superfamily_P-loop_NTPase pfam_WSC_carb-bd,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD1 HGNC ENSG00000179314 81 0 0 72 43 37.3913 METTL2A 0 genome.wustl.edu 37 17 60522244 60522244 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 60522244 60522244 G A SNP METTL2A ENST00000311506 human ensembl 74_37 +1 known missense c.856 p.G286R 1.000 pfam_Methyltransf_12,pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pirsf_MeTrfase pfam_Methyltransf_12,pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pirsf_MeTrfase - no_errors METTL2A HGNC ENSG00000087995 40 0 0 36 22 37.931 TANC2 0 genome.wustl.edu 37 17 61498030 61498030 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 61498030 61498030 C T SNP TANC2 ENST00000424789 human ensembl 74_37 +1 known missense c.4687 p.R1563C 0.999 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 37 0 0 39 28 41.791 SCN4A 0 genome.wustl.edu 37 17 62018341 62018341 + Missense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 62018341 62018341 C A SNP SCN4A ENST00000435607 human ensembl 74_37 -1 known missense c.5301 p.E1767D 1.000 NULL 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 90 0 0 51 40 43.956 SCN4A 0 genome.wustl.edu 37 17 62026852 62026852 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 62026852 62026852 C T SNP SCN4A ENST00000435607 human ensembl 74_37 -1 known missense c.2890 p.V964I 1.000 pfam_Na_trans_assoc 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 17 0 0 20 11 35.4839 AXIN2 0 genome.wustl.edu 37 17 63532595 63532595 + Missense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 63532595 63532595 G T SNP AXIN2 ENST00000307078 human ensembl 74_37 -1 known missense c.1984 p.L662M 1.000 NULL pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN2 HGNC ENSG00000168646 67 0 0 51 41 44.5652 PITPNM3 0 genome.wustl.edu 37 17 6371643 6371643 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 6371643 6371643 C T SNP PITPNM3 ENST00000262483 human ensembl 74_37 -1 known missense c.1792 p.V598M 0.006 NULL pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD - no_errors PITPNM3 HGNC ENSG00000091622 92 0 0 68 55 44.7154 PRKCA 0 genome.wustl.edu 37 17 64685129 64685129 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 64685129 64685129 C T SNP PRKCA ENST00000413366 human ensembl 74_37 +1 known silent c.882 p.D294 0.262 pirsf_Protein_kinase_C_a/b/g pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCA HGNC ENSG00000154229 40 0 0 23 8 25.8065 CACNG5 0 genome.wustl.edu 37 17 64880774 64880774 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 64880774 64880774 C T SNP CACNG5 ENST00000169565 human ensembl 74_37 +1 known missense c.566 p.T189M 0.985 pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g5su - no_errors CACNG5 HGNC ENSG00000075429 107 0 0 81 38 31.9328 CACNG4 0 genome.wustl.edu 37 17 65026895 65026895 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 65026895 65026895 G A SNP CACNG4 ENST00000262138 human ensembl 74_37 +1 known silent c.759 p.S253 0.919 NULL pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g4su,prints_VDCC_gsu,prints_Claudin - no_errors CACNG4 HGNC ENSG00000075461 116 0 0 69 46 40 ABCA8 0 genome.wustl.edu 37 17 66873710 66873710 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 66873710 66873710 G A SNP ABCA8 ENST00000430352 human ensembl 74_37 -1 known silent c.4149 p.Y1383 0.129 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA8 HGNC ENSG00000141338 237 0 0 186 89 32.3636 ABCA9 0 genome.wustl.edu 37 17 67047247 67047247 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 67047247 67047247 G A SNP ABCA9 ENST00000340001 human ensembl 74_37 -1 known silent c.21 p.S7 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA9 HGNC ENSG00000154258 92 0 0 77 12 13.4831 KCNJ16 0 genome.wustl.edu 37 17 68128528 68128528 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 68128528 68128528 C T SNP KCNJ16 ENST00000283936 human ensembl 74_37 +1 known silent c.300 p.G100 0.772 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir5,prints_K_chnl_inward-rec_Kir - no_errors KCNJ16 HGNC ENSG00000153822 108 0 0 82 45 35.4331 SLC16A11 0 genome.wustl.edu 37 17 6945061 6945061 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 6945061 6945061 G A SNP SLC16A11 ENST00000308009 human ensembl 74_37 -1 known silent c.1353 p.P451 0.000 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A11 HGNC ENSG00000174326 48 0 0 39 20 33.8983 SDK2 0 genome.wustl.edu 37 17 71410842 71410842 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 71410842 71410842 G A SNP SDK2 ENST00000392650 human ensembl 74_37 -1 known missense c.2425 p.R809C 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 SDK2 HGNC ENSG00000069188 63 0 0 63 22 25.8824 NEURL4 0 genome.wustl.edu 37 17 7226287 7226287 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 7226287 7226287 G A SNP NEURL4 ENST00000399464 human ensembl 74_37 -1 known missense c.2573 p.S858L 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Neu_Z pfam_Neu_Z,superfamily_ConA-like_lec_gl_sf,smart_Neu_Z,pfscan_Neu_Z - no_errors NEURL4 HGNC ENSG00000215041 79 0 0 55 39 41.4894 BTBD17 0 genome.wustl.edu 37 17 72352847 72352847 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 72352847 72352847 C T SNP BTBD17 ENST00000375366 human ensembl 74_37 -1 known silent c.1386 p.L462 1.000 NULL pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD17 HGNC ENSG00000204347 55 0 0 66 8 10.8108 GPRC5C 0 genome.wustl.edu 37 17 72436546 72436546 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 72436546 72436546 A G SNP GPRC5C ENST00000392627 human ensembl 74_37 +1 known missense c.766 p.M256V 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPRC5C HGNC ENSG00000170412 63 0 0 44 29 39.726 CD300C 0 genome.wustl.edu 37 17 72540925 72540925 + Missense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 72540925 72540925 C A SNP CD300C ENST00000330793 human ensembl 74_37 -1 known missense c.223 p.A75S 0.001 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD300C HGNC ENSG00000167850 115 0 0 74 40 35.0877 SLC16A5 0 genome.wustl.edu 37 17 73096200 73096200 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 73096200 73096200 G A SNP SLC16A5 ENST00000329783 human ensembl 74_37 +1 known missense c.442 p.V148I 0.607 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A5 HGNC ENSG00000170190 33 0 0 23 22 48.8889 GGA3 0 genome.wustl.edu 37 17 73237565 73237565 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 73237565 73237565 G A SNP GGA3 ENST00000245541 human ensembl 74_37 -1 known missense c.862 p.R288W 1.000 pfam_GAT,pfscan_GAT pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA3 HGNC ENSG00000125447 283 0 0 192 95 33.101 SPEM1 0 genome.wustl.edu 37 17 7324658 7324658 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 7324658 7324658 G A SNP SPEM1 ENST00000323675 human ensembl 74_37 +1 known missense c.664 p.G222S 0.001 NULL NULL - no_errors SPEM1 HGNC ENSG00000181323 51 0 0 28 35 55.5556 CASKIN2 0 genome.wustl.edu 37 17 73498689 73498689 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 73498689 73498689 G A SNP CASKIN2 ENST00000321617 human ensembl 74_37 -1 known silent c.2466 p.T822 0.108 NULL 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 CASKIN2 HGNC ENSG00000177303 12 0 0 8 6 42.8571 RECQL5 0 genome.wustl.edu 37 17 73627237 73627237 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 73627237 73627237 A G SNP RECQL5 ENST00000317905 human ensembl 74_37 -1 known missense c.1541 p.L514P 1.000 NULL pfam_RecQ_helicase-like_5,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,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL5 HGNC ENSG00000108469 78 0 0 75 24 24.2424 ITGB4 0 genome.wustl.edu 37 17 73723516 73723516 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 73723516 73723516 C T SNP ITGB4 ENST00000200181 human ensembl 74_37 +1 known missense c.194 p.A65V 0.000 pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu 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 40 0 0 36 19 34.5455 UNC13D 0 genome.wustl.edu 37 17 73832710 73832710 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 73832710 73832710 C T SNP UNC13D ENST00000412096 human ensembl 74_37 -1 known missense c.1241 p.R414H 0.953 NULL pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors UNC13D HGNC ENSG00000092929 68 0 0 48 24 33.3333 POLR2A 0 genome.wustl.edu 37 17 7399276 7399276 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 7399276 7399276 C T SNP POLR2A ENST00000322644 human ensembl 74_37 +1 known missense c.110 p.T37M 1.000 pfam_RNA_pol_Rpb1_1 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 125 0 0 88 40 31.25 QRICH2 0 genome.wustl.edu 37 17 74289677 74289677 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 74289677 74289677 G A SNP QRICH2 ENST00000262765 human ensembl 74_37 -1 known silent c.633 p.P211 0.000 NULL NULL - no_errors QRICH2 HGNC ENSG00000129646 110 0 0 94 38 28.7879 SENP3 0 genome.wustl.edu 37 17 7468002 7468002 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 7468002 7468002 G A SNP SENP3 ENST00000429205 human ensembl 74_37 +1 known missense c.776 p.R259H 0.956 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP3 HGNC ENSG00000161956 59 0 0 51 18 26.087 TP53 0 genome.wustl.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 7577121 7577121 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.817 p.R273C 0.830 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 49 0 0 29 10 25.641 TP53 0 genome.wustl.edu 37 17 7579365 7579365 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 7579365 7579365 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.322 p.G108S 0.925 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 105 0 0 73 50 40.6504 EFNB3 0 genome.wustl.edu 37 17 7612612 7612612 + Silent SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 7612612 7612612 T C SNP EFNB3 ENST00000226091 human ensembl 74_37 +1 known silent c.741 p.G247 1.000 NULL pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNB3 HGNC ENSG00000108947 45 0 0 19 14 42.4242 DNAH17 0 genome.wustl.edu 37 17 76482323 76482323 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 76482323 76482323 C T SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known missense c.7042 p.A2348T 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_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 47 0 0 38 20 34.4828 DNAH17 0 genome.wustl.edu 37 17 76547694 76547694 + Nonsense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 76547694 76547694 G A SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known nonsense c.2314 p.R772* 0.999 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 89 0 0 74 43 36.7521 DNAH2 0 genome.wustl.edu 37 17 7661859 7661859 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 7661859 7661859 C T SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known missense c.2098 p.R700C 0.999 pfam_Dynein_heavy_dom-1 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 219 1 0.454545 231 51 18.0851 DNAH2 0 genome.wustl.edu 37 17 7674180 7674180 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 7674180 7674180 C T SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known missense c.4291 p.R1431C 1.000 pfam_Dynein_heavy_dom-2 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 225 1 0.442478 141 89 38.6957 DNAH2 0 genome.wustl.edu 37 17 7683501 7683501 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 7683501 7683501 G A SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known missense c.5749 p.E1917K 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase 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 406 0 0 301 181 37.5519 LGALS3BP 0 genome.wustl.edu 37 17 76968461 76968461 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 76968461 76968461 G A SNP LGALS3BP ENST00000262776 human ensembl 74_37 -1 known silent c.955 p.L319 0.808 pfam_BACK,smart_BACK pfam_SRCR,pfam_BACK,superfamily_Srcr_rcpt-rel,superfamily_BTB/POZ_fold,smart_Srcr_rcpt-rel,smart_BACK,pfscan_BTB/POZ-like,pfscan_SRCR,prints_SRCR - no_errors LGALS3BP HGNC ENSG00000108679 74 0 0 48 29 37.6623 C1QTNF1 0 genome.wustl.edu 37 17 77044096 77044096 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 77044096 77044096 G A SNP C1QTNF1 ENST00000354124 human ensembl 74_37 +1 known missense c.802 p.A268T 1.000 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 C1QTNF1 HGNC ENSG00000173918 53 0 0 42 6 12.5 KDM6B 0 genome.wustl.edu 37 17 7752883 7752883 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 7752883 7752883 C T SNP KDM6B ENST00000254846 human ensembl 74_37 +1 known missense c.3277 p.R1093C 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM6B HGNC ENSG00000132510 31 0 0 24 21 46.6667 RNF213 0 genome.wustl.edu 37 17 78318681 78318681 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 78318681 78318681 G A SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known silent c.6546 p.T2182 0.004 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 121 0 0 81 50 38.1679 TRAPPC1 0 genome.wustl.edu 37 17 7834358 7834358 + Nonsense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 7834358 7834358 G A SNP TRAPPC1 ENST00000303731 human ensembl 74_37 -1 known nonsense c.280 p.R94* 0.999 pfam_Sybindin,superfamily_Longin-like_dom pfam_Sybindin,superfamily_Longin-like_dom - no_errors TRAPPC1 HGNC ENSG00000170043 104 0 0 66 45 40.5405 AATK 0 genome.wustl.edu 37 17 79095756 79095756 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 79095756 79095756 G A SNP AATK ENST00000326724 human ensembl 74_37 -1 known silent c.1980 p.G660 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AATK HGNC ENSG00000181409 37 0 0 26 17 39.5349 GUCY2D 0 genome.wustl.edu 37 17 7918329 7918329 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 7918329 7918329 C T SNP GUCY2D ENST00000254854 human ensembl 74_37 +1 known missense c.2729 p.T910I 0.997 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors GUCY2D HGNC ENSG00000132518 69 0 0 48 22 31.4286 BAHCC1 0 genome.wustl.edu 37 17 79411837 79411837 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 79411837 79411837 G A SNP BAHCC1 ENST00000307745 human ensembl 74_37 +1 known missense c.2656 p.A886T 0.631 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors RP11-1055B8.7 Clone_based_vega_gene ENSG00000171282 24 0 0 8 7 46.6667 HGS 0 genome.wustl.edu 37 17 79662032 79662032 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 79662032 79662032 G A SNP HGS ENST00000329138 human ensembl 74_37 +1 known missense c.1054 p.V352M 0.317 pirsf_Ubi-bd_Hrs_VPS27 pfam_VHS,pfam_HRS_helical,pfam_Znf_FYVE,superfamily_ENTH_VHS,superfamily_Znf_FYVE_PHD,smart_VHS_subgr,smart_Znf_FYVE,pirsf_Ubi-bd_Hrs_VPS27,pfscan_Ubiquitin-int_motif,pfscan_VHS,pfscan_Znf_FYVE-rel - no_errors HGS HGNC ENSG00000185359 119 0 0 74 55 42.6357 NOTUM 0 genome.wustl.edu 37 17 79914789 79914789 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 79914789 79914789 G A SNP NOTUM ENST00000409678 human ensembl 74_37 -1 known missense c.857 p.A286V 1.000 pfam_NOTUM pfam_NOTUM - no_errors NOTUM HGNC ENSG00000185269 35 0 0 18 16 47.0588 FASN 0 genome.wustl.edu 37 17 80044375 80044375 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 80044375 80044375 C T SNP FASN ENST00000306749 human ensembl 74_37 -1 known missense c.3487 p.G1163R 0.965 NULL pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 56 0 0 53 22 29.3333 OGFOD3 0 genome.wustl.edu 37 17 80361850 80361850 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 80361850 80361850 G A SNP OGFOD3 ENST00000329197 human ensembl 74_37 -1 known missense c.662 p.T221M 1.000 smart_Pro_4_hyd_alph smart_Pro_4_hyd_alph - no_errors OGFOD3 HGNC ENSG00000181396 16 0 0 12 13 52 TBCD 0 genome.wustl.edu 37 17 80765497 80765497 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 80765497 80765497 C T SNP TBCD ENST00000355528 human ensembl 74_37 +1 known silent c.1101 p.V367 0.657 superfamily_ARM-type_fold pfam_Tubulin_specific_chaperoneD_C,superfamily_ARM-type_fold - no_errors TBCD HGNC ENSG00000141556 10 0 0 6 3 33.3333 MFSD6L 0 genome.wustl.edu 37 17 8701099 8701099 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 8701099 8701099 T C SNP MFSD6L ENST00000329805 human ensembl 74_37 -1 known missense c.1340 p.Y447C 1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors MFSD6L HGNC ENSG00000185156 250 0 0 169 94 35.7414 PIK3R5 0 genome.wustl.edu 37 17 8794082 8794082 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 8794082 8794082 G A SNP PIK3R5 ENST00000447110 human ensembl 74_37 -1 known silent c.630 p.D210 1.000 pfam_PI3K_1B_gamma_p101_su pfam_PI3K_1B_gamma_p101_su - no_errors PIK3R5 HGNC ENSG00000141506 26 0 0 17 7 29.1667 RCVRN 0 genome.wustl.edu 37 17 9808264 9808264 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 9808264 9808264 G A SNP RCVRN ENST00000226193 human ensembl 74_37 -1 known silent c.234 p.D78 0.992 smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors RCVRN HGNC ENSG00000109047 95 0 0 74 54 42.1875 MPPE1 0 genome.wustl.edu 37 18 11884458 11884458 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 18 11884458 11884458 G A SNP MPPE1 ENST00000588072 human ensembl 74_37 -1 known missense c.1177 p.R393C 0.988 NULL pfam_PEstase_dom - no_errors MPPE1 HGNC ENSG00000154889 136 0 0 90 44 32.8358 FAM210A 0 genome.wustl.edu 37 18 13666696 13666696 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 18 13666696 13666696 C T SNP FAM210A ENST00000322247 human ensembl 74_37 -1 known missense c.602 p.R201Q 1.000 pfam_DUF1279 pfam_DUF1279 - no_errors FAM210A HGNC ENSG00000177150 43 0 0 22 9 29.0323 SLC25A52 0 genome.wustl.edu 37 18 29340651 29340651 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 18 29340651 29340651 G A SNP SLC25A52 ENST00000269205 human ensembl 74_37 -1 known missense c.4 p.P2S 0.004 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A52 HGNC ENSG00000141437 130 0 0 92 43 31.8519 TRAPPC8 0 genome.wustl.edu 37 18 29470763 29470763 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 18 29470763 29470763 G A SNP TRAPPC8 ENST00000283351 human ensembl 74_37 -1 known missense c.1663 p.P555S 1.000 NULL NULL - no_errors TRAPPC8 HGNC ENSG00000153339 151 0 0 132 31 19.0184 CCDC178 0 genome.wustl.edu 37 18 30804828 30804828 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 18 30804828 30804828 C T SNP CCDC178 ENST00000406524 human ensembl 74_37 -1 known missense c.1729 p.A577T 0.000 NULL NULL - no_errors CCDC178 HGNC ENSG00000166960 82 0 0 72 17 19.1011 CELF4 0 genome.wustl.edu 37 18 34853049 34853049 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 18 34853049 34853049 G A SNP CELF4 ENST00000420428 human ensembl 74_37 -1 known silent c.879 p.A293 0.947 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF4 HGNC ENSG00000101489 60 0 0 48 25 34.2466 DLGAP1 0 genome.wustl.edu 37 18 3534216 3534216 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 18 3534216 3534216 G A SNP DLGAP1 ENST00000315677 human ensembl 74_37 -1 known missense c.2455 p.R819W 0.933 pfam_GKAP pfam_GKAP - no_errors DLGAP1 HGNC ENSG00000170579 77 0 0 60 44 42.3077 RIT2 0 genome.wustl.edu 37 18 40503663 40503663 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 18 40503663 40503663 G A SNP RIT2 ENST00000590910 human ensembl 74_37 -1 novel missense c.362 p.P121L 0.949 smart_Small_GTPase_Ras pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RIT2 HGNC ENSG00000152214 386 1 0.258398 340 189 35.7278 PIAS2 0 genome.wustl.edu 37 18 44401028 44401028 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 18 44401028 44401028 T C SNP PIAS2 ENST00000585916 human ensembl 74_37 -1 known missense c.1516 p.M506V 1.000 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS2 HGNC ENSG00000078043 122 0 0 131 8 5.7554 KATNAL2 0 genome.wustl.edu 37 18 44595966 44595966 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 18 44595966 44595966 G A SNP KATNAL2 ENST00000245121 human ensembl 74_37 +1 known missense c.787 p.V263I 1.000 pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors KATNAL2 HGNC ENSG00000167216 106 0 0 64 37 36.6337 DCC 0 genome.wustl.edu 37 18 50278490 50278490 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 18 50278490 50278490 G A SNP DCC ENST00000442544 human ensembl 74_37 +1 known missense c.158 p.R53Q 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DCC HGNC ENSG00000187323 63 0 0 42 23 35.3846 EPB41L3 0 genome.wustl.edu 37 18 5397138 5397138 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 18 5397138 5397138 G A SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known silent c.2760 p.A920 0.005 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 140 0 0 105 48 31.3725 EPB41L3 0 genome.wustl.edu 37 18 5397409 5397409 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 18 5397409 5397409 G A SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known missense c.2489 p.T830M 0.005 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 101 0 0 71 37 34.2593 EPB41L3 0 genome.wustl.edu 37 18 5428378 5428378 + Silent SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 18 5428378 5428378 G T SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known silent c.999 p.A333 1.000 pirsf_Band_41_protein,pfam_FERM_PH-like_C,pfscan_FERM_domain pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 217 0 0 207 28 11.9149 ALPK2 0 genome.wustl.edu 37 18 56204775 56204775 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 18 56204775 56204775 C T SNP ALPK2 ENST00000361673 human ensembl 74_37 -1 known missense c.2644 p.G882S 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 70 0 0 56 14 20 RNF152 0 genome.wustl.edu 37 18 59483219 59483219 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 18 59483219 59483219 C T SNP RNF152 ENST00000312828 human ensembl 74_37 -1 known missense c.478 p.V160M 0.991 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF152 HGNC ENSG00000176641 87 0 0 55 37 40.2174 BCL2 0 genome.wustl.edu 37 18 60985399 60985399 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 18 60985399 60985399 C T SNP BCL2 ENST00000333681 human ensembl 74_37 -1 known silent c.501 p.S167 0.489 pfam_Blc2_fam,pfscan_Bcl2-like,prints_Blc2_fam,tigrfam_Bcl2/BclX pfam_Blc2_fam,pfam_Bcl2_BH4,smart_Bcl2_BH4,pfscan_Bcl2-like,pfscan_Bcl2_BH4,prints_Apop_reg_Bcl2,prints_Blc2_fam,prints_Apop_reg_BclX,tigrfam_Bcl2/BclX - no_errors BCL2 HGNC ENSG00000171791 70 0 0 55 28 33.7349 SERPINB13 0 genome.wustl.edu 37 18 61264399 61264399 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 18 61264399 61264399 C T SNP SERPINB13 ENST00000344731 human ensembl 74_37 +1 known silent c.978 p.Y326 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB13 HGNC ENSG00000197641 69 0 0 63 45 41.6667 CDH7 0 genome.wustl.edu 37 18 63548083 63548083 + Nonsense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 18 63548083 63548083 C T SNP CDH7 ENST00000323011 human ensembl 74_37 +1 known nonsense c.2311 p.R771* 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC ENSG00000081138 123 0 0 116 30 20.5479 CDH19 0 genome.wustl.edu 37 18 64176286 64176286 + Nonsense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 18 64176286 64176286 C A SNP CDH19 ENST00000262150 human ensembl 74_37 -1 known nonsense c.1774 p.G592* 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH19 HGNC ENSG00000071991 151 1 0.657895 84 36 30 RTTN 0 genome.wustl.edu 37 18 67755229 67755229 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 18 67755229 67755229 C T SNP RTTN ENST00000255674 human ensembl 74_37 -1 known missense c.4298 p.R1433Q 1.000 NULL superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 93 0 0 79 14 15.0538 RTTN 0 genome.wustl.edu 37 18 67833395 67833395 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 18 67833395 67833395 A G SNP RTTN ENST00000255674 human ensembl 74_37 -1 known missense c.1832 p.L611P 0.620 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 93 0 0 49 34 40.9639 LAMA1 0 genome.wustl.edu 37 18 6977842 6977842 + Missense_Mutation SNP G G C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 18 6977842 6977842 G C SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.6229 p.Q2077E 1.000 pfam_Laminin_II pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,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 LAMA1 HGNC ENSG00000101680 40 0 0 41 8 16.3265 ZNF407 0 genome.wustl.edu 37 18 72345057 72345057 + Silent SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 18 72345057 72345057 T C SNP ZNF407 ENST00000299687 human ensembl 74_37 +1 known silent c.2082 p.G694 0.008 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ENSG00000215421 62 0 0 35 19 35.1852 ZNF516 0 genome.wustl.edu 37 18 74154389 74154389 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 18 74154389 74154389 C T SNP ZNF516 ENST00000443185 human ensembl 74_37 -1 known missense c.622 p.A208T 0.007 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF516 HGNC ENSG00000101493 56 0 0 25 21 45.6522 ZNF236 0 genome.wustl.edu 37 18 74593458 74593458 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 18 74593458 74593458 G A SNP ZNF236 ENST00000253159 human ensembl 74_37 +1 known silent c.1401 p.P467 0.996 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 63 0 0 53 26 32.9114 ZNF236 0 genome.wustl.edu 37 18 74607053 74607053 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 18 74607053 74607053 G A SNP ZNF236 ENST00000253159 human ensembl 74_37 +1 known missense c.1496 p.R499H 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 124 0 0 122 13 9.62963 GALR1 0 genome.wustl.edu 37 18 74962969 74962969 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 18 74962969 74962969 C T SNP GALR1 ENST00000299727 human ensembl 74_37 +1 known silent c.465 p.G155 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Galanin_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GAL1_rcpt,prints_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_NPY_rcpt - no_errors GALR1 HGNC ENSG00000166573 67 0 0 47 26 35.6164 SALL3 0 genome.wustl.edu 37 18 76752284 76752284 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 18 76752284 76752284 C T SNP SALL3 ENST00000537592 human ensembl 74_37 +1 known missense c.293 p.S98L 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 14 0 0 9 9 50 PPP4R1 0 genome.wustl.edu 37 18 9563518 9563518 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 18 9563518 9563518 C T SNP PPP4R1 ENST00000400556 human ensembl 74_37 -1 known missense c.1604 p.R535H 0.427 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R1 HGNC ENSG00000154845 92 0 0 78 31 28.4404 PPAN-P2RY11 0 genome.wustl.edu 37 19 10220616 10220616 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 10220616 10220616 G A SNP PPAN-P2RY11 ENST00000393796 human ensembl 74_37 +1 known silent c.618 p.A206 0.930 pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix pfam_Brix,pfam_GPCR_Rhodpsn,superfamily_Anticodon-bd,smart_Brix,prints_GPCR_Rhodpsn,pfscan_Brix,pfscan_GPCR_Rhodpsn_7TM - no_errors PPAN-P2RY11 HGNC ENSG00000243207 156 0 0 45 89 66.4179 ICAM1 0 genome.wustl.edu 37 19 10394744 10394744 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 10394744 10394744 C T SNP ICAM1 ENST00000264832 human ensembl 74_37 +1 known missense c.673 p.R225W 0.000 NULL pfam_ICAM_N,smart_Ig_sub,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM1 HGNC ENSG00000090339 143 0 0 70 23 24.7312 DNM2 0 genome.wustl.edu 37 19 10909172 10909172 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 10909172 10909172 A G SNP DNM2 ENST00000314646 human ensembl 74_37 +1 known missense c.1346 p.Y449C 1.000 pfam_Dynamin_central pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF - no_errors DNM2 HGNC ENSG00000079805 51 0 0 32 8 20 KANK2 0 genome.wustl.edu 37 19 11287398 11287398 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 11287398 11287398 G A SNP KANK2 ENST00000432929 human ensembl 74_37 -1 known missense c.1640 p.P547L 0.044 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK2 HGNC ENSG00000197256 103 0 0 37 51 57.9545 ELAVL3 0 genome.wustl.edu 37 19 11577463 11577463 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 11577463 11577463 G A SNP ELAVL3 ENST00000359227 human ensembl 74_37 -1 known silent c.189 p.G63 0.026 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_ELAD_HUD_SF 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 123 0 0 29 47 61.8421 ZNF799 0 genome.wustl.edu 37 19 12502776 12502776 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 12502776 12502776 G A SNP ZNF799 ENST00000430385 human ensembl 74_37 -1 known missense c.436 p.R146C 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 ZNF799 HGNC ENSG00000196466 200 0 0 59 80 57.554 MAN2B1 0 genome.wustl.edu 37 19 12774210 12774210 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 12774210 12774210 G A SNP MAN2B1 ENST00000456935 human ensembl 74_37 -1 known missense c.830 p.P277L 0.995 pfam_Glyco_hydro_38_N,superfamily_Glyco_hydro/deAcase_b/a-brl pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B1 HGNC ENSG00000104774 125 0 0 28 27 49.0909 DAND5 0 genome.wustl.edu 37 19 13084419 13084419 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 13084419 13084419 G A SNP DAND5 ENST00000317060 human ensembl 74_37 +1 known missense c.541 p.E181K 0.001 pfam_DAN,pirsf_Cerberus pfam_DAN,pirsf_Cerberus - no_errors DAND5 HGNC ENSG00000179284 79 0 0 26 50 65.7895 CACNA1A 0 genome.wustl.edu 37 19 13386663 13386663 + Splice_Site SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 13386663 13386663 C T SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known splice_site c.3989+1 e24+1 1.000 - - - no_errors CACNA1A HGNC ENSG00000141837 30 0 0 7 12 63.1579 CC2D1A 0 genome.wustl.edu 37 19 14031642 14031642 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 14031642 14031642 C T SNP CC2D1A ENST00000318003 human ensembl 74_37 +1 known silent c.1548 p.D516 0.980 smart_DM14 pfam_C2_dom,superfamily_C2_dom,smart_DM14,smart_C2_dom - no_errors CC2D1A HGNC ENSG00000132024 109 0 0 109 35 24.3056 RFX1 0 genome.wustl.edu 37 19 14074439 14074439 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 14074439 14074439 G A SNP RFX1 ENST00000254325 human ensembl 74_37 -1 known silent c.2481 p.G827 1.000 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX1 HGNC ENSG00000132005 21 0 0 9 6 40 GIPC1 0 genome.wustl.edu 37 19 14593574 14593574 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 14593574 14593574 C T SNP GIPC1 ENST00000345425 human ensembl 74_37 -1 known missense c.215 p.R72H 1.000 pirsf_UCP038083_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ - no_errors GIPC1 HGNC ENSG00000123159 16 0 0 13 9 40.9091 ZNF333 0 genome.wustl.edu 37 19 14805828 14805828 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 14805828 14805828 G A SNP ZNF333 ENST00000292530 human ensembl 74_37 +1 known missense c.10 p.V4I 0.072 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,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF333 HGNC ENSG00000160961 188 0 0 202 60 22.9008 ILVBL 0 genome.wustl.edu 37 19 15226182 15226182 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 15226182 15226182 C T SNP ILVBL ENST00000263383 human ensembl 74_37 -1 known missense c.1780 p.E594K 0.972 pfam_TPP_enzyme-bd_C pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_TPP_enzyme-bd_C,pfam_Thiamin_PyroP_enz_cen_dom - no_errors ILVBL HGNC ENSG00000105135 122 0 0 88 50 36.2319 AKAP8L 0 genome.wustl.edu 37 19 15508372 15508372 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 15508372 15508372 C T SNP AKAP8L ENST00000397410 human ensembl 74_37 -1 known missense c.1364 p.G455D 0.994 pfam_AKAP95 pfam_AKAP95 - no_errors AKAP8L HGNC ENSG00000011243 49 0 0 38 6 13.6364 PGLYRP2 0 genome.wustl.edu 37 19 15582776 15582776 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 15582776 15582776 G A SNP PGLYRP2 ENST00000292609 human ensembl 74_37 -1 known missense c.1268 p.T423M 0.000 pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain - no_errors PGLYRP2 HGNC ENSG00000161031 65 0 0 56 34 37.7778 OR10H2 0 genome.wustl.edu 37 19 15839443 15839443 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 15839443 15839443 C T SNP OR10H2 ENST00000305899 human ensembl 74_37 +1 known missense c.590 p.A197V 0.000 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 OR10H2 HGNC ENSG00000171942 141 0 0 113 49 30.2469 CYP4F11 0 genome.wustl.edu 37 19 16034771 16034771 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 16034771 16034771 G A SNP CYP4F11 ENST00000248041 human ensembl 74_37 -1 known missense c.769 p.R257C 0.222 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 CYP4F11 HGNC ENSG00000171903 172 0 0 159 90 36.1446 TPM4 0 genome.wustl.edu 37 19 16192765 16192765 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 16192765 16192765 G A SNP TPM4 ENST00000344824 human ensembl 74_37 +1 known missense c.283 p.V95I 0.996 pfam_Tropomyosin,prints_Tropomyosin pfam_Tropomyosin,prints_Tropomyosin - no_errors TPM4 HGNC ENSG00000167460 60 0 0 44 42 48.8372 AP1M1 0 genome.wustl.edu 37 19 16314282 16314282 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 16314282 16314282 C T SNP AP1M1 ENST00000444449 human ensembl 74_37 +1 known missense c.55 p.R19W 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu,prints_Clathrin_mu 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 AP1M1 HGNC ENSG00000072958 78 0 0 48 29 37.6623 SIN3B 0 genome.wustl.edu 37 19 16976300 16976300 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 16976300 16976300 C T SNP SIN3B ENST00000379803 human ensembl 74_37 +1 known missense c.1559 p.P520L 0.064 pfam_HDAC_interact,smart_HDAC_interact pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3B HGNC ENSG00000127511 61 0 0 65 13 16.6667 SIN3B 0 genome.wustl.edu 37 19 16986963 16986963 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 16986963 16986963 G A SNP SIN3B ENST00000379803 human ensembl 74_37 +1 known missense c.2786 p.R929H 1.000 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3B HGNC ENSG00000127511 23 0 0 24 5 17.2414 CPAMD8 0 genome.wustl.edu 37 19 17036131 17036131 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 17036131 17036131 G A SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known missense c.3563 p.P1188L 1.000 pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom - no_errors CPAMD8 HGNC ENSG00000160111 106 0 0 73 45 38.1356 NR2F6 0 genome.wustl.edu 37 19 17343253 17343253 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 17343253 17343253 G A SNP NR2F6 ENST00000291442 human ensembl 74_37 -1 known missense c.1123 p.R375C 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd 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_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR2F6 HGNC ENSG00000160113 48 0 0 60 16 21.0526 NR2F6 0 genome.wustl.edu 37 19 17343353 17343353 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 17343353 17343353 C T SNP NR2F6 ENST00000291442 human ensembl 74_37 -1 known silent c.1023 p.A341 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core 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_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR2F6 HGNC ENSG00000160113 34 0 0 19 5 20.8333 MAP1S 0 genome.wustl.edu 37 19 17844226 17844226 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 17844226 17844226 C T SNP MAP1S ENST00000324096 human ensembl 74_37 +1 known missense c.3013 p.R1005C 0.001 NULL NULL - no_errors MAP1S HGNC ENSG00000130479 14 0 0 14 7 33.3333 FCHO1 0 genome.wustl.edu 37 19 17885236 17885236 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 17885236 17885236 G A SNP FCHO1 ENST00000252771 human ensembl 74_37 +1 known missense c.869 p.R290H 1.000 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 82 0 0 57 32 35.9551 PIK3R2 0 genome.wustl.edu 37 19 18273783 18273783 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 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 63 0 0 48 19 28.3582 KIAA1683 0 genome.wustl.edu 37 19 18378235 18378235 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 18378235 18378235 C T SNP KIAA1683 ENST00000392413 human ensembl 74_37 -1 known missense c.115 p.A39T 0.025 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 250 0 0 207 92 30.7692 LSM4 0 genome.wustl.edu 37 19 18420513 18420513 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 18420513 18420513 G A SNP LSM4 ENST00000593829 human ensembl 74_37 -1 known silent c.303 p.G101 0.995 superfamily_LSM_dom pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors LSM4 HGNC ENSG00000130520 53 0 0 62 7 10.1449 HOMER3 0 genome.wustl.edu 37 19 19049618 19049618 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 19049618 19049618 C T SNP HOMER3 ENST00000392351 human ensembl 74_37 -1 known silent c.90 p.A30 0.979 pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors HOMER3 HGNC ENSG00000051128 15 0 0 4 4 50 SUGP2 0 genome.wustl.edu 37 19 19115211 19115211 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 19115211 19115211 C T SNP SUGP2 ENST00000337018 human ensembl 74_37 -1 known missense c.2695 p.D899N 0.340 NULL pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP2 HGNC ENSG00000064607 36 0 0 40 18 31.0345 SUGP1 0 genome.wustl.edu 37 19 19390106 19390106 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 19390106 19390106 C T SNP SUGP1 ENST00000247001 human ensembl 74_37 -1 known missense c.1444 p.G482S 1.000 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 22 0 0 27 14 34.1463 CILP2 0 genome.wustl.edu 37 19 19655452 19655452 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 19655452 19655452 G A SNP CILP2 ENST00000291495 human ensembl 74_37 +1 known missense c.2098 p.E700K 0.001 NULL pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors CILP2 HGNC ENSG00000160161 9 0 0 8 4 33.3333 CSNK1G2 0 genome.wustl.edu 37 19 1978933 1978933 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 1978933 1978933 C T SNP CSNK1G2 ENST00000255641 human ensembl 74_37 +1 known missense c.523 p.R175C 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Casein_kinase-1_gamma_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK1G2 HGNC ENSG00000133275 73 0 0 15 36 70.5882 ZNF257 0 genome.wustl.edu 37 19 22271354 22271354 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 22271354 22271354 C T SNP ZNF257 ENST00000594947 human ensembl 74_37 +1 known missense c.802 p.R268W 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF257 HGNC ENSG00000197134 56 0 0 36 12 25 ZNF555 0 genome.wustl.edu 37 19 2853436 2853436 + Missense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 2853436 2853436 G T SNP ZNF555 ENST00000334241 human ensembl 74_37 +1 known missense c.1373 p.G458V 0.999 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF555 HGNC ENSG00000186300 101 0 0 31 31 50 ZNF555 0 genome.wustl.edu 37 19 2853909 2853909 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 2853909 2853909 A G SNP ZNF555 ENST00000334241 human ensembl 74_37 +1 known missense c.1846 p.R616G 0.926 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 ZNF555 HGNC ENSG00000186300 158 0 0 47 50 51.5464 CELF5 0 genome.wustl.edu 37 19 3251010 3251010 + Missense_Mutation SNP G G C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 3251010 3251010 G C SNP CELF5 ENST00000292672 human ensembl 74_37 +1 known missense c.287 p.R96T 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF5 HGNC ENSG00000161082 130 0 0 52 44 45.8333 ANKRD27 0 genome.wustl.edu 37 19 33098606 33098606 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 33098606 33098606 C T SNP ANKRD27 ENST00000306065 human ensembl 74_37 -1 known missense c.2308 p.A770T 0.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_VPS9,superfamily_Ankyrin_rpt-contain_dom,smart_VPS9_subgr,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_VPS9,prints_Ankyrin_rpt - no_errors ANKRD27 HGNC ENSG00000105186 23 0 0 22 12 35.2941 GPI 0 genome.wustl.edu 37 19 34857702 34857702 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 34857702 34857702 C T SNP GPI ENST00000415930 human ensembl 74_37 +1 known silent c.345 p.G115 0.891 pfam_G6P_Isomerase pfam_G6P_Isomerase,prints_G6P_Isomerase - no_errors GPI HGNC ENSG00000105220 135 0 0 142 19 11.8012 SCGB2B2 0 genome.wustl.edu 37 19 35085142 35085142 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 35085142 35085142 T C SNP SCGB2B2 ENST00000379204 human ensembl 74_37 -1 known missense c.184 p.N62D 0.184 pfam_Secretoglobin,pfam_Allergen_Fel_d_1_chain2,superfamily_Secretoglobin pfam_Secretoglobin,pfam_Allergen_Fel_d_1_chain2,superfamily_Secretoglobin - no_errors SCGB2B2 HGNC ENSG00000205209 134 0 0 137 17 11.039 PRODH2 0 genome.wustl.edu 37 19 36291029 36291029 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 36291029 36291029 C T SNP PRODH2 ENST00000301175 human ensembl 74_37 -1 known missense c.1522 p.V508M 1.000 pfam_Proline_DH pfam_Proline_DH - no_errors PRODH2 HGNC ENSG00000250799 9 0 0 10 6 37.5 PRODH2 0 genome.wustl.edu 37 19 36297695 36297695 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 36297695 36297695 G A SNP PRODH2 ENST00000301175 human ensembl 74_37 -1 known missense c.944 p.A315V 0.997 pfam_Proline_DH pfam_Proline_DH - no_errors PRODH2 HGNC ENSG00000250799 18 0 0 14 9 39.1304 CLIP3 0 genome.wustl.edu 37 19 36510207 36510207 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 36510207 36510207 G A SNP CLIP3 ENST00000360535 human ensembl 74_37 -1 known missense c.920 p.T307M 1.000 pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain - no_errors CLIP3 HGNC ENSG00000105270 44 0 0 21 12 36.3636 WDR62 0 genome.wustl.edu 37 19 36594488 36594488 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 36594488 36594488 C T SNP WDR62 ENST00000401500 human ensembl 74_37 +1 known missense c.3758 p.S1253L 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR62 HGNC ENSG00000075702 63 0 0 57 30 34.4828 ZFP82 0 genome.wustl.edu 37 19 36896513 36896513 + Missense_Mutation SNP T T G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 36896513 36896513 T G SNP ZFP82 ENST00000392161 human ensembl 74_37 -1 known missense c.198 p.K66N 0.915 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 ZFP82 HGNC ENSG00000181007 81 0 0 52 24 31.5789 CATSPERG 0 genome.wustl.edu 37 19 38861304 38861304 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 38861304 38861304 G A SNP CATSPERG ENST00000409235 human ensembl 74_37 +1 known missense c.3352 p.A1118T 0.000 NULL NULL - no_errors CATSPERG HGNC ENSG00000099338 174 0 0 126 71 36.0406 EEF2 0 genome.wustl.edu 37 19 3979814 3979814 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 3979814 3979814 T C SNP EEF2 ENST00000309311 human ensembl 74_37 -1 known missense c.1597 p.M533V 1.000 superfamily_EFG_III-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 68 0 0 29 28 49.1228 SAMD4B 0 genome.wustl.edu 37 19 39860699 39860699 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 39860699 39860699 G A SNP SAMD4B ENST00000314471 human ensembl 74_37 +1 known missense c.601 p.V201M 0.993 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM - no_errors SAMD4B HGNC ENSG00000179134 16 0 0 14 7 33.3333 SUPT5H 0 genome.wustl.edu 37 19 39962263 39962263 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 39962263 39962263 C T SNP SUPT5H ENST00000432763 human ensembl 74_37 +1 known missense c.1843 p.R615C 1.000 superfamily_Translation_prot_SH3-like,smart_KOW,pirsf_TF_Spt5 pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N_dom,smart_KOW,pirsf_TF_Spt5 - no_errors SUPT5H HGNC ENSG00000196235 53 0 0 33 35 51.4706 TIMM50 0 genome.wustl.edu 37 19 39973790 39973790 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 39973790 39973790 G A SNP TIMM50 ENST00000314349 human ensembl 74_37 +1 known missense c.616 p.D206N 1.000 NULL pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF - no_errors TIMM50 HGNC ENSG00000105197 206 0 0 181 96 34.657 EID2 0 genome.wustl.edu 37 19 40030583 40030583 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 40030583 40030583 G A SNP EID2 ENST00000390658 human ensembl 74_37 -1 known missense c.137 p.A46V 0.019 NULL NULL - no_errors EID2 HGNC ENSG00000176396 10 0 0 14 5 26.3158 PIAS4 0 genome.wustl.edu 37 19 4033135 4033135 + Silent SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 4033135 4033135 C A SNP PIAS4 ENST00000262971 human ensembl 74_37 +1 known silent c.945 p.I315 0.998 pfscan_Znf_MIZ pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS4 HGNC ENSG00000105229 88 0 0 53 16 23.1884 FCGBP 0 genome.wustl.edu 37 19 40368809 40368809 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 40368809 40368809 G A SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.12539 p.A4180V 0.002 pfam_VWF_type-D,smart_VWF_type-D 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 250 0 0 249 41 14.1379 ZNF546 0 genome.wustl.edu 37 19 40520374 40520374 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 40520374 40520374 C T SNP ZNF546 ENST00000347077 human ensembl 74_37 +1 known silent c.1197 p.Y399 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 ZNF546 HGNC ENSG00000187187 64 0 0 43 11 20.3704 PLD3 0 genome.wustl.edu 37 19 40882551 40882551 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 40882551 40882551 C T SNP PLD3 ENST00000356508 human ensembl 74_37 +1 known missense c.1055 p.A352V 0.979 NULL pfam_PLipase_D/transphosphatidylase,smart_PLipase_D/transphosphatidylase,pfscan_PLipase_D/transphosphatidylase - no_errors PLD3 HGNC ENSG00000105223 98 0 0 68 26 27.6596 CEACAM21 0 genome.wustl.edu 37 19 42091829 42091829 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 42091829 42091829 G A SNP CEACAM21 ENST00000401445 human ensembl 74_37 +1 known silent c.831 p.Q277 0.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM21 HGNC ENSG00000007129 124 0 0 91 46 33.5766 ATP1A3 0 genome.wustl.edu 37 19 42482414 42482414 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 42482414 42482414 G A SNP ATP1A3 ENST00000302102 human ensembl 74_37 -1 known silent c.1695 p.D565 0.902 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 ATP1A3 HGNC ENSG00000105409 32 0 0 11 11 50 GRIK5 0 genome.wustl.edu 37 19 42510873 42510873 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 42510873 42510873 G A SNP GRIK5 ENST00000301218 human ensembl 74_37 -1 known missense c.1961 p.S654L 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK5 HGNC ENSG00000105737 45 0 0 45 22 32.8358 CCDC94 0 genome.wustl.edu 37 19 4251122 4251122 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 4251122 4251122 G A SNP CCDC94 ENST00000262962 human ensembl 74_37 +1 known missense c.224 p.R75H 1.000 pfam_CWC16 pfam_CWC16 - no_errors CCDC94 HGNC ENSG00000105248 81 0 0 24 41 63.0769 TMEM145 0 genome.wustl.edu 37 19 42818487 42818487 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 42818487 42818487 C T SNP TMEM145 ENST00000301204 human ensembl 74_37 +1 known missense c.184 p.R62C 0.999 NULL pfam_Intimal_thickness-rel_rcpt - no_errors TMEM145 HGNC ENSG00000167619 164 0 0 148 101 40.5622 PSG3 0 genome.wustl.edu 37 19 43244496 43244496 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 43244496 43244496 G A SNP PSG3 ENST00000327495 human ensembl 74_37 -1 known missense c.41 p.T14I 0.005 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG3 HGNC ENSG00000221826 252 0 0 174 125 41.806 PSG6 0 genome.wustl.edu 37 19 43411249 43411249 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 43411249 43411249 C T SNP PSG6 ENST00000292125 human ensembl 74_37 -1 known silent c.1065 p.A355 0.002 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG6 HGNC ENSG00000170848 407 0 0 295 162 35.4486 ZNF230 0 genome.wustl.edu 37 19 44514757 44514757 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 44514757 44514757 T C SNP ZNF230 ENST00000429154 human ensembl 74_37 +1 known missense c.566 p.V189A 0.906 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 189 0 0 143 86 37.5546 ZNF223 0 genome.wustl.edu 37 19 44570344 44570344 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 44570344 44570344 C T SNP ZNF223 ENST00000591793 human ensembl 74_37 +1 known silent c.693 p.S231 0.000 NULL 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 ZNF223 Uniprot_gn ENSG00000267022 110 0 0 65 42 39.2523 ZNF223 0 genome.wustl.edu 37 19 44571192 44571192 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 44571192 44571192 A G SNP ZNF223 ENST00000591793 human ensembl 74_37 +1 known missense c.1541 p.D514G 0.003 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 ZNF223 Uniprot_gn ENSG00000267022 172 0 0 168 36 17.6471 MARK4 0 genome.wustl.edu 37 19 45766418 45766418 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 45766418 45766418 G A SNP MARK4 ENST00000262891 human ensembl 74_37 +1 known silent c.300 p.L100 0.551 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,pfam_UBA/Ts_N,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors MARK4 HGNC ENSG00000007047 12 0 0 15 11 42.3077 RSPH6A 0 genome.wustl.edu 37 19 46307526 46307526 + Missense_Mutation SNP T T G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 46307526 46307526 T G SNP RSPH6A ENST00000221538 human ensembl 74_37 -1 known missense c.1637 p.Q546P 1.000 pfam_Radial_spoke pfam_Radial_spoke - no_errors RSPH6A HGNC ENSG00000104941 42 0 0 52 28 35 NANOS2 0 genome.wustl.edu 37 19 46417555 46417555 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 46417555 46417555 C T SNP NANOS2 ENST00000341294 human ensembl 74_37 -1 known missense c.397 p.G133R 0.861 NULL pfam_Znf_nanos-typ - no_errors NANOS2 HGNC ENSG00000188425 25 0 0 22 22 50 CCDC61 0 genome.wustl.edu 37 19 46498681 46498681 + Splice_Site SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 46498681 46498681 A G SNP CCDC61 ENST00000263284 human ensembl 74_37 +1 known splice_site c.81-2 e2-2 0.581 - - - no_errors CCDC61 HGNC ENSG00000104983 18 0 0 18 11 37.931 CALM3 0 genome.wustl.edu 37 19 47111779 47111779 + Missense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 47111779 47111779 G T SNP CALM3 ENST00000291295 human ensembl 74_37 +1 known missense c.219 p.M73I 1.000 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin pfam_EF_hand_dom,pfam_EF-hand_Ca_insen,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors CALM3 HGNC ENSG00000160014 97 0 0 77 32 29.3578 STRN4 0 genome.wustl.edu 37 19 47228739 47228739 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 47228739 47228739 G A SNP STRN4 ENST00000391910 human ensembl 74_37 -1 known missense c.1436 p.T479M 0.958 superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_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 48 0 0 39 19 32.7586 ZC3H4 0 genome.wustl.edu 37 19 47570247 47570247 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 47570247 47570247 C T SNP ZC3H4 ENST00000253048 human ensembl 74_37 -1 known missense c.3278 p.R1093Q 0.994 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H4 HGNC ENSG00000130749 14 0 0 11 5 31.25 FEM1A 0 genome.wustl.edu 37 19 4793005 4793005 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 4793005 4793005 G A SNP FEM1A ENST00000269856 human ensembl 74_37 +1 known missense c.1139 p.R380H 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors FEM1A HGNC ENSG00000141965 109 0 0 60 32 34.7826 NTN5 0 genome.wustl.edu 37 19 49167960 49167960 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 49167960 49167960 G A SNP NTN5 ENST00000270235 human ensembl 74_37 -1 known silent c.696 p.G232 0.454 pfam_EGF_laminin,smart_EGF_laminin pfam_Netrin_module_non-TIMP,pfam_EGF_laminin,superfamily_TIMP-like_OB-fold,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Netrin_domain - no_errors NTN5 HGNC ENSG00000142233 9 0 0 16 5 23.8095 TBC1D17 0 genome.wustl.edu 37 19 50388000 50388000 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 50388000 50388000 C T SNP TBC1D17 ENST00000221543 human ensembl 74_37 +1 known missense c.1429 p.L477F 0.995 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_DUF3548,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D17 HGNC ENSG00000104946 75 0 0 60 32 34.7826 IL4I1 0 genome.wustl.edu 37 19 50397580 50397580 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 50397580 50397580 C T SNP IL4I1 ENST00000341114 human ensembl 74_37 -1 known missense c.578 p.R193H 0.000 pfam_Amino_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_AlaDH/PNT_NAD(H)-bd,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase - no_errors IL4I1 HGNC ENSG00000104951 45 0 0 32 16 33.3333 ATF5 0 genome.wustl.edu 37 19 50436176 50436176 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 50436176 50436176 C T SNP ATF5 ENST00000423777 human ensembl 74_37 +1 known missense c.676 p.R226C 1.000 pfam_bZIP,smart_bZIP,pfscan_bZIP pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors ATF5 HGNC ENSG00000169136 38 0 0 35 19 35.1852 SIGLEC16 0 genome.wustl.edu 37 19 50475301 50475301 + RNA SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 50475301 50475301 T C SNP SIGLEC16 ENST00000602139 human ensembl 74_37 +1 known rna NULL NULL 0.738 - - - no_errors SIGLEC16 HGNC ENSG00000161643 90 0 0 87 27 23.6842 ZNF473 0 genome.wustl.edu 37 19 50548669 50548669 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 50548669 50548669 C T SNP ZNF473 ENST00000270617 human ensembl 74_37 +1 known silent c.969 p.N323 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF473 HGNC ENSG00000142528 150 0 0 97 62 38.9937 MYBPC2 0 genome.wustl.edu 37 19 50957548 50957548 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 50957548 50957548 C T SNP MYBPC2 ENST00000357701 human ensembl 74_37 +1 known missense c.1936 p.R646C 0.996 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC2 HGNC ENSG00000086967 47 0 0 52 25 32.4675 KDM4B 0 genome.wustl.edu 37 19 5110672 5110672 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 5110672 5110672 G A SNP KDM4B ENST00000159111 human ensembl 74_37 +1 known missense c.958 p.V320M 0.998 NULL pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC ENSG00000127663 64 0 0 24 35 59.322 SIGLECL1 0 genome.wustl.edu 37 19 51767344 51767344 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 51767344 51767344 G A SNP SIGLECL1 ENST00000316401 human ensembl 74_37 +1 known silent c.18 p.Q6 0.000 NULL NULL - no_errors SIGLECL1 HGNC ENSG00000179213 118 0 0 120 19 13.6691 ZNF836 0 genome.wustl.edu 37 19 52659206 52659206 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 52659206 52659206 G A SNP ZNF836 ENST00000322146 human ensembl 74_37 -1 known missense c.1730 p.T577M 0.161 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 ZNF836 HGNC ENSG00000196267 340 0 0 211 121 36.4458 ZNF534 0 genome.wustl.edu 37 19 52942412 52942412 + Nonsense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 52942412 52942412 C T SNP ZNF534 ENST00000332323 human ensembl 74_37 +1 known nonsense c.1738 p.R580* 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF534 HGNC ENSG00000198633 29 0 0 13 8 38.0952 ENSG00000269349 0 genome.wustl.edu 37 19 53015473 53015473 + RNA SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 53015473 53015473 G A SNP ENSG00000269349 ENST00000599143 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-3099C6.5 Clone_based_vega_gene ENSG00000269349 75 0 0 60 41 40.5941 ZNF415 0 genome.wustl.edu 37 19 53612860 53612860 + Silent SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 53612860 53612860 A G SNP ZNF415 ENST00000448501 human ensembl 74_37 -1 known silent c.582 p.H194 0.009 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2 - no_errors ZNF415 HGNC ENSG00000170954 175 0 0 117 44 27.3292 ZNF347 0 genome.wustl.edu 37 19 53645180 53645180 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 53645180 53645180 G A SNP ZNF347 ENST00000452676 human ensembl 74_37 -1 known missense c.904 p.R302C 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF347 HGNC ENSG00000197937 226 0 0 184 43 18.9427 ZNF845 0 genome.wustl.edu 37 19 53855133 53855133 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 53855133 53855133 G A SNP ZNF845 ENST00000458035 human ensembl 74_37 +1 known missense c.1205 p.R402H 0.015 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 ZNF845 HGNC ENSG00000213799 185 0 0 114 62 35.2273 TFPT 0 genome.wustl.edu 37 19 54611543 54611543 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 54611543 54611543 G A SNP TFPT ENST00000391759 human ensembl 74_37 -1 known silent c.432 p.G144 1.000 NULL NULL - no_errors TFPT HGNC ENSG00000105619 24 0 0 10 5 33.3333 CNOT3 0 genome.wustl.edu 37 19 54646870 54646870 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 54646870 54646870 G A SNP CNOT3 ENST00000221232 human ensembl 74_37 +1 known missense c.41 p.C14Y 1.000 pfam_Not_N,pirsf_CCR4-NOT_su3/5 pfam_Not_N,pfam_NOT,pirsf_CCR4-NOT_su3/5 - no_errors CNOT3 HGNC ENSG00000088038 282 0 0 247 113 31.3889 LILRB2 0 genome.wustl.edu 37 19 54783463 54783463 + Missense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 54783463 54783463 G T SNP LILRB2 ENST00000391749 human ensembl 74_37 -1 known missense c.395 p.P132H 0.979 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB2 HGNC ENSG00000131042 136 0 0 102 58 36.25 LILRA5 0 genome.wustl.edu 37 19 54822684 54822684 + Nonsense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 54822684 54822684 C A SNP LILRA5 ENST00000301219 human ensembl 74_37 -1 known nonsense c.712 p.G238* 0.909 NULL smart_Ig_sub,smart_Ig_sub2 - no_errors LILRA5 HGNC ENSG00000187116 93 0 0 78 50 39.0625 LAIR1 0 genome.wustl.edu 37 19 54866902 54866902 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 54866902 54866902 G A SNP LAIR1 ENST00000391742 human ensembl 74_37 -1 known missense c.839 p.T280M 0.000 NULL smart_Ig_sub - no_errors LAIR1 HGNC ENSG00000167613 182 0 0 160 85 34.6939 TNNT1 0 genome.wustl.edu 37 19 55652654 55652654 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 55652654 55652654 C T SNP TNNT1 ENST00000588981 human ensembl 74_37 -1 known missense c.209 p.R70H 1.000 pfam_Troponin pfam_Troponin - no_errors TNNT1 HGNC ENSG00000105048 82 0 0 63 26 29.2135 HSPBP1 0 genome.wustl.edu 37 19 55785912 55785912 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 55785912 55785912 G A SNP HSPBP1 ENST00000255631 human ensembl 74_37 -1 known missense c.494 p.A165V 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HSPBP1 HGNC ENSG00000133265 33 0 0 19 11 36.6667 EPN1 0 genome.wustl.edu 37 19 56189998 56189998 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 56189998 56189998 C T SNP EPN1 ENST00000411543 human ensembl 74_37 +1 known missense c.338 p.S113L 1.000 superfamily_ENTH_VHS 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 EPN1 HGNC ENSG00000063245 12 0 0 17 8 32 NLRP13 0 genome.wustl.edu 37 19 56443465 56443465 + Silent SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 56443465 56443465 A G SNP NLRP13 ENST00000342929 human ensembl 74_37 -1 known silent c.213 p.L71 0.001 pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN 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 NLRP13 HGNC ENSG00000173572 108 0 0 78 42 35 SAFB 0 genome.wustl.edu 37 19 5661786 5661786 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 5661786 5661786 G A SNP SAFB ENST00000588852 human ensembl 74_37 +1 known missense c.2120 p.R707Q 0.995 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SAFB HGNC ENSG00000160633 12 0 0 1 3 75 ZNF582 0 genome.wustl.edu 37 19 56901845 56901845 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 56901845 56901845 G A SNP ZNF582 ENST00000301310 human ensembl 74_37 -1 known missense c.35 p.A12V 0.966 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 ZNF582 HGNC ENSG00000018869 175 1 0.568182 88 58 39.726 ZNF667 0 genome.wustl.edu 37 19 56953616 56953616 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 56953616 56953616 C T SNP ZNF667 ENST00000342634 human ensembl 74_37 -1 known missense c.1132 p.G378R 0.988 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF667 HGNC ENSG00000198046 184 0 0 134 55 29.1005 ZNF71 0 genome.wustl.edu 37 19 57133303 57133303 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 57133303 57133303 C T SNP ZNF71 ENST00000328070 human ensembl 74_37 +1 known silent c.648 p.C216 0.742 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF71 HGNC ENSG00000197951 59 0 0 45 25 35.7143 ZNF772 0 genome.wustl.edu 37 19 57984945 57984945 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 57984945 57984945 G A SNP ZNF772 ENST00000343280 human ensembl 74_37 -1 known silent c.1167 p.H389 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 ZNF772 HGNC ENSG00000197128 199 0 0 134 70 34.3137 ZNF773 0 genome.wustl.edu 37 19 58016049 58016049 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 58016049 58016049 G A SNP ZNF773 ENST00000282292 human ensembl 74_37 +1 known missense c.58 p.V20M 0.981 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 ZNF773 HGNC ENSG00000152439 170 0 0 134 81 37.6744 ZNF587 0 genome.wustl.edu 37 19 58371174 58371174 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 58371174 58371174 C T SNP ZNF587 ENST00000339656 human ensembl 74_37 +1 known missense c.1394 p.A465V 0.005 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 ZNF587 HGNC ENSG00000198466 290 1 0.343643 233 118 33.6182 ZNF814 0 genome.wustl.edu 37 19 58385236 58385236 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 58385236 58385236 C T SNP ZNF814 ENST00000435989 human ensembl 74_37 -1 known missense c.1522 p.V508I 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF814 HGNC ENSG00000204514 83 0 0 62 48 43.6364 ZSCAN1 0 genome.wustl.edu 37 19 58564970 58564970 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 58564970 58564970 C T SNP ZSCAN1 ENST00000282326 human ensembl 74_37 +1 known missense c.778 p.R260C 0.000 NULL 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 ZSCAN1 HGNC ENSG00000152467 82 0 0 66 38 36.5385 ZNF135 0 genome.wustl.edu 37 19 58574815 58574815 + Silent SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 58574815 58574815 A G SNP ZNF135 ENST00000401053 human ensembl 74_37 +1 known silent c.198 p.G66 0.007 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 ZNF135 HGNC ENSG00000176293 58 0 0 72 14 16.2791 ZNF584 0 genome.wustl.edu 37 19 58921369 58921369 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 58921369 58921369 C T SNP ZNF584 ENST00000306910 human ensembl 74_37 +1 known missense c.80 p.S27F 0.685 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 ZNF584 HGNC ENSG00000171574 133 0 0 125 24 16.1074 RFX2 0 genome.wustl.edu 37 19 6001988 6001988 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 6001988 6001988 C T SNP RFX2 ENST00000303657 human ensembl 74_37 -1 known missense c.1697 p.R566Q 0.999 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX2 HGNC ENSG00000087903 105 0 0 30 53 63.8554 C3 0 genome.wustl.edu 37 19 6707512 6707512 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 6707512 6707512 C T SNP C3 ENST00000245907 human ensembl 74_37 -1 known missense c.2012 p.R671H 0.984 NULL pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 96 0 0 32 34 51.5152 SH2D3A 0 genome.wustl.edu 37 19 6760665 6760665 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 6760665 6760665 G A SNP SH2D3A ENST00000245908 human ensembl 74_37 -1 known missense c.403 p.R135W 0.000 NULL pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,prints_SH2 - no_errors SH2D3A HGNC ENSG00000125731 13 0 0 4 11 73.3333 MISP 0 genome.wustl.edu 37 19 757886 757886 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 757886 757886 C T SNP MISP ENST00000215582 human ensembl 74_37 +1 known missense c.940 p.R314W 0.005 NULL NULL - no_errors MISP HGNC ENSG00000099812 66 0 0 14 26 65 LRRC8E 0 genome.wustl.edu 37 19 7964277 7964277 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 7964277 7964277 G A SNP LRRC8E ENST00000306708 human ensembl 74_37 +1 known silent c.870 p.T290 0.550 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8E HGNC ENSG00000171017 61 0 0 25 19 43.1818 HNRNPM 0 genome.wustl.edu 37 19 8553714 8553714 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 8553714 8553714 C T SNP HNRNPM ENST00000325495 human ensembl 74_37 +1 known silent c.2169 p.D723 1.000 smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_HnRNP_M_PY-NLS,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPM HGNC ENSG00000099783 114 0 0 34 48 58.5366 MUC16 0 genome.wustl.edu 37 19 9026243 9026243 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 9026243 9026243 C T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.36743 p.R12248H 0.000 pfam_SEA_dom,smart_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 219 0 0 73 106 59.2179 MUC16 0 genome.wustl.edu 37 19 9063743 9063743 + Silent SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 9063743 9063743 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.23703 p.A7901 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 169 0 0 89 26 22.6087 MUC16 0 genome.wustl.edu 37 19 9066225 9066225 + Missense_Mutation SNP A A T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 9066225 9066225 A T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.21221 p.L7074H 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 123 0 0 83 23 21.6981 OR7D2 0 genome.wustl.edu 37 19 9296685 9296685 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 9296685 9296685 C T SNP OR7D2 ENST00000344248 human ensembl 74_37 +1 known silent c.228 p.C76 0.005 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7D2 HGNC ENSG00000188000 170 0 0 51 80 61.0687 AFF3 0 genome.wustl.edu 37 2 100167951 100167951 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 100167951 100167951 G A SNP AFF3 ENST00000356421 human ensembl 74_37 -1 known silent c.3741 p.S1247 0.912 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 34 0 0 32 12 27.2727 TBC1D8 0 genome.wustl.edu 37 2 101648754 101648754 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 101648754 101648754 C T SNP TBC1D8 ENST00000409318 human ensembl 74_37 -1 known missense c.1912 p.D638N 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_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D8 HGNC ENSG00000204634 41 0 0 32 24 42.8571 CNOT11 0 genome.wustl.edu 37 2 101881315 101881315 + Nonsense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 101881315 101881315 C T SNP CNOT11 ENST00000289382 human ensembl 74_37 +1 known nonsense c.841 p.R281* 1.000 NULL pfam_DUF2363 - no_errors CNOT11 HGNC ENSG00000158435 76 0 0 61 36 37.1134 SLC9A4 0 genome.wustl.edu 37 2 103149075 103149075 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 103149075 103149075 G A SNP SLC9A4 ENST00000295269 human ensembl 74_37 +1 known silent c.2325 p.S775 0.006 NULL pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger - no_errors SLC9A4 HGNC ENSG00000180251 54 0 0 38 10 20.8333 TMEM182 0 genome.wustl.edu 37 2 103378794 103378794 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 103378794 103378794 T C SNP TMEM182 ENST00000412401 human ensembl 74_37 +1 known missense c.118 p.S40P 1.000 NULL NULL - no_errors TMEM182 HGNC ENSG00000170417 186 0 0 145 93 39.0756 ODC1 0 genome.wustl.edu 37 2 10582277 10582277 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 10582277 10582277 C T SNP ODC1 ENST00000234111 human ensembl 74_37 -1 known silent c.774 p.A258 0.000 pfam_De-COase2_N,superfamily_Ala_racemase/Decarboxylase_C pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase - no_errors ODC1 HGNC ENSG00000115758 82 0 0 73 19 20.6522 GPR45 0 genome.wustl.edu 37 2 105859168 105859168 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 105859168 105859168 G A SNP GPR45 ENST00000258456 human ensembl 74_37 +1 known missense c.853 p.V285I 0.814 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 - no_errors GPR45 HGNC ENSG00000135973 306 0 0 216 134 38.2857 EDAR 0 genome.wustl.edu 37 2 109547467 109547467 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 109547467 109547467 C T SNP EDAR ENST00000376651 human ensembl 74_37 -1 known missense c.4 p.A2T 0.994 NULL pfam_Death_domain,superfamily_DEATH-like_dom - no_errors EDAR HGNC ENSG00000135960 135 1 0.735294 104 68 39.5349 ZC3H8 0 genome.wustl.edu 37 2 112994207 112994207 + Nonsense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 112994207 112994207 G A SNP ZC3H8 ENST00000272570 human ensembl 74_37 -1 known nonsense c.436 p.R146* 0.998 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H8 HGNC ENSG00000144161 54 0 0 61 17 21.7949 IL1RN 0 genome.wustl.edu 37 2 113890256 113890256 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 113890256 113890256 C T SNP IL1RN ENST00000259206 human ensembl 74_37 +1 known silent c.351 p.S117 0.013 pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1RA/IL-36 pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1RA/IL-36,prints_IL-1 - no_errors IL1RN HGNC ENSG00000136689 102 0 0 75 45 37.5 PTPN4 0 genome.wustl.edu 37 2 120643418 120643418 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 120643418 120643418 G A SNP PTPN4 ENST00000263708 human ensembl 74_37 +1 known missense c.635 p.R212H 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain,prints_Band_41_fam pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors PTPN4 HGNC ENSG00000088179 150 0 0 86 44 33.8462 GLI2 0 genome.wustl.edu 37 2 121732661 121732661 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 121732661 121732661 C T SNP GLI2 ENST00000361492 human ensembl 74_37 +1 known silent c.1344 p.Y448 0.807 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 76 0 0 62 30 32.6087 GLI2 0 genome.wustl.edu 37 2 121747789 121747789 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 121747789 121747789 G A SNP GLI2 ENST00000361492 human ensembl 74_37 +1 known silent c.4299 p.P1433 0.002 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 77 0 0 63 29 31.5217 CNTNAP5 0 genome.wustl.edu 37 2 125555832 125555832 + Missense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 125555832 125555832 C A SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.3149 p.P1050H 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 86 0 0 80 13 13.9785 PROC 0 genome.wustl.edu 37 2 128186358 128186358 + Missense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 128186358 128186358 G T SNP PROC ENST00000453608 human ensembl 74_37 +1 known missense c.1387 p.A463S 0.410 pirsf_Pept_S1A_FX,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1 - no_errors PROC HGNC ENSG00000115718 175 0 0 100 103 50.7389 WDR33 0 genome.wustl.edu 37 2 128480901 128480901 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 128480901 128480901 C T SNP WDR33 ENST00000322313 human ensembl 74_37 -1 known missense c.1217 p.R406Q 1.000 pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR33 HGNC ENSG00000136709 207 0 0 103 77 42.7778 AMMECR1L 0 genome.wustl.edu 37 2 128622774 128622774 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 128622774 128622774 C T SNP AMMECR1L ENST00000272647 human ensembl 74_37 -1 known missense c.827 p.R276Q 1.000 pfam_AMMECR1_domain,superfamily_AMMECR1_domain,pfscan_AMMECR1_domain,tigrfam_AMMECR1 pfam_AMMECR1_domain,superfamily_AMMECR1_domain,pfscan_AMMECR1_domain,tigrfam_AMMECR1 - no_errors AMMECR1L HGNC ENSG00000144233 86 0 0 62 43 40.9524 CCDC74B 0 genome.wustl.edu 37 2 130898849 130898849 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 130898849 130898849 C T SNP CCDC74B ENST00000392984 human ensembl 74_37 -1 known missense c.871 p.G291S 0.007 NULL NULL - no_errors CCDC74B HGNC ENSG00000152076 73 0 0 62 21 25.3012 MZT2B 0 genome.wustl.edu 37 2 130948162 130948162 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 130948162 130948162 G A SNP MZT2B ENST00000281871 human ensembl 74_37 +1 known missense c.440 p.G147D 0.532 NULL NULL - no_errors MZT2B HGNC ENSG00000152082 106 0 0 79 31 28.1818 IMP4 0 genome.wustl.edu 37 2 131103164 131103164 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 131103164 131103164 G A SNP IMP4 ENST00000259239 human ensembl 74_37 +1 known missense c.331 p.A111T 1.000 pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix - no_errors IMP4 HGNC ENSG00000136718 55 0 0 35 23 39.6552 CFC1 0 genome.wustl.edu 37 2 131356243 131356243 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 131356243 131356243 C T SNP CFC1 ENST00000259216 human ensembl 74_37 -1 known silent c.219 p.P73 0.000 NULL pfam_Cryptic/Cripto_CFC-dom,pfscan_EG-like_dom - no_errors CFC1 HGNC ENSG00000136698 143 1 0.694444 143 23 13.8554 GPR148 0 genome.wustl.edu 37 2 131487749 131487749 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 131487749 131487749 C T SNP GPR148 ENST00000309926 human ensembl 74_37 +1 known missense c.1025 p.A342V 0.001 pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR148 HGNC ENSG00000173302 34 0 0 25 4 13.7931 AMER3 0 genome.wustl.edu 37 2 131521709 131521709 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 131521709 131521709 C T SNP AMER3 ENST00000321420 human ensembl 74_37 +1 known silent c.2064 p.N688 0.000 NULL pfam_Uncharacterised_FAM123 - no_errors AMER3 HGNC ENSG00000178171 17 0 0 17 7 29.1667 POTEE 0 genome.wustl.edu 37 2 131976089 131976089 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 131976089 131976089 C T SNP POTEE ENST00000356920 human ensembl 74_37 +1 known silent c.114 p.S38 0.038 NULL 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 POTEE HGNC ENSG00000188219 276 0 0 213 106 33.2288 POTEE 0 genome.wustl.edu 37 2 131976377 131976377 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 131976377 131976377 C T SNP POTEE ENST00000356920 human ensembl 74_37 +1 known silent c.402 p.H134 0.007 NULL 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 POTEE HGNC ENSG00000188219 139 0 0 108 46 29.8701 THSD7B 0 genome.wustl.edu 37 2 138378257 138378257 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 138378257 138378257 A G SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known missense c.3769 p.T1257A 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 THSD7B HGNC ENSG00000144229 184 0 0 138 64 31.6832 LRP1B 0 genome.wustl.edu 37 2 141680638 141680638 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 141680638 141680638 C T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.3215 p.R1072H 0.997 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 148 0 0 75 61 44.8529 EPC2 0 genome.wustl.edu 37 2 149543879 149543879 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 149543879 149543879 A G SNP EPC2 ENST00000258484 human ensembl 74_37 +1 known missense c.2357 p.N786S 1.000 pfam_Enhancer_polycomb_C pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N - no_errors EPC2 HGNC ENSG00000135999 27 0 0 22 6 21.4286 LYPD6B 0 genome.wustl.edu 37 2 150061784 150061784 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 150061784 150061784 G A SNP LYPD6B ENST00000280115 human ensembl 74_37 +1 known missense c.95 p.R32H 0.000 NULL NULL - no_errors LYPD6B HGNC ENSG00000150556 155 0 0 113 82 42.0513 RBM43 0 genome.wustl.edu 37 2 152108096 152108096 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 152108096 152108096 T C SNP RBM43 ENST00000331426 human ensembl 74_37 -1 known missense c.398 p.K133R 0.335 NULL pfscan_RRM_dom - no_errors RBM43 HGNC ENSG00000184898 222 0 0 154 105 40.5405 NEB 0 genome.wustl.edu 37 2 152406166 152406166 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 152406166 152406166 C T SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.20033 p.R6678H 0.614 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 16 0 0 16 11 40.7407 ARL5A 0 genome.wustl.edu 37 2 152670756 152670756 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 152670756 152670756 C T SNP ARL5A ENST00000295087 human ensembl 74_37 -1 known missense c.182 p.R61H 1.000 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL5A HGNC ENSG00000162980 154 0 0 123 12 8.88889 PRPF40A 0 genome.wustl.edu 37 2 153527837 153527837 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 153527837 153527837 G A SNP PRPF40A ENST00000410080 human ensembl 74_37 -1 known missense c.1429 p.R477C 1.000 pfam_FF_domain,superfamily_FF_domain,smart_FF_domain pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom,prints_Antifreeze_1 - no_errors PRPF40A HGNC ENSG00000196504 81 0 0 62 29 31.8681 PRPF40A 0 genome.wustl.edu 37 2 153529040 153529040 + Nonsense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 153529040 153529040 C A SNP PRPF40A ENST00000410080 human ensembl 74_37 -1 known nonsense c.1303 p.E435* 1.000 pfam_FF_domain,superfamily_FF_domain,smart_FF_domain pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom,prints_Antifreeze_1 - no_errors PRPF40A HGNC ENSG00000196504 94 0 0 52 20 27.7778 KCNJ3 0 genome.wustl.edu 37 2 155711597 155711597 + Silent SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 155711597 155711597 A G SNP KCNJ3 ENST00000295101 human ensembl 74_37 +1 known silent c.1278 p.K426 1.000 pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.1 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.1,prints_K_chnl_inward-rec_Kir - no_errors KCNJ3 HGNC ENSG00000162989 157 0 0 94 49 34.2657 GALNT5 0 genome.wustl.edu 37 2 158114723 158114723 + Silent SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 158114723 158114723 G T SNP GALNT5 ENST00000259056 human ensembl 74_37 +1 known silent c.129 p.R43 0.007 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 192 0 0 199 45 18.4426 ACVR1C 0 genome.wustl.edu 37 2 158485127 158485127 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 158485127 158485127 G A SNP ACVR1C ENST00000243349 human ensembl 74_37 -1 known silent c.30 p.R10 0.999 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ACVR1C HGNC ENSG00000123612 13 0 0 12 5 29.4118 PKP4 0 genome.wustl.edu 37 2 159481645 159481645 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 159481645 159481645 C T SNP PKP4 ENST00000389759 human ensembl 74_37 +1 known missense c.859 p.R287W 0.158 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP4 HGNC ENSG00000144283 59 0 0 27 20 42.5532 BAZ2B 0 genome.wustl.edu 37 2 160229665 160229665 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 160229665 160229665 C T SNP BAZ2B ENST00000392783 human ensembl 74_37 -1 known silent c.4104 p.A1368 0.877 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 143 0 0 89 17 16.0377 MARCH7 0 genome.wustl.edu 37 2 160599719 160599719 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 160599719 160599719 A G SNP MARCH7 ENST00000259050 human ensembl 74_37 +1 known missense c.301 p.T101A 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH7 HGNC ENSG00000136536 149 0 0 80 62 43.662 FIGN 0 genome.wustl.edu 37 2 164467078 164467078 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 164467078 164467078 A G SNP FIGN ENST00000333129 human ensembl 74_37 -1 known missense c.1264 p.Y422H 1.000 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGN HGNC ENSG00000182263 157 0 0 99 32 24.4275 SCN3A 0 genome.wustl.edu 37 2 165946973 165946973 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 165946973 165946973 C T SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known missense c.5690 p.R1897H 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 86 0 0 50 27 35.0649 SCN9A 0 genome.wustl.edu 37 2 167128940 167128940 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 167128940 167128940 C T SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known missense c.3323 p.S1108N 1.000 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 15 0 0 8 3 27.2727 CERS6 0 genome.wustl.edu 37 2 169571639 169571639 + Missense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 169571639 169571639 G T SNP CERS6 ENST00000392687 human ensembl 74_37 +1 known missense c.738 p.E246D 1.000 pfam_TLC-dom,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeobox_dom - no_errors CERS6 HGNC ENSG00000172292 167 1 0.595238 90 28 23.7288 ABCB11 0 genome.wustl.edu 37 2 169826024 169826024 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 169826024 169826024 C T SNP ABCB11 ENST00000263817 human ensembl 74_37 -1 known missense c.1847 p.R616H 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 ABCB11 HGNC ENSG00000073734 31 0 0 17 20 54.0541 LRP2 0 genome.wustl.edu 37 2 170062856 170062856 + Silent SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 170062856 170062856 T C SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known silent c.7374 p.P2458 0.926 smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 62 0 0 27 23 46 DYNC1I2 0 genome.wustl.edu 37 2 172584891 172584891 + Missense_Mutation SNP T T A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 172584891 172584891 T A SNP DYNC1I2 ENST00000397119 human ensembl 74_37 +1 known missense c.1220 p.I407N 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I2 HGNC ENSG00000077380 25 0 0 20 4 16.6667 CHN1 0 genome.wustl.edu 37 2 175742756 175742756 + Missense_Mutation SNP A A C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 175742756 175742756 A C SNP CHN1 ENST00000409900 human ensembl 74_37 -1 known missense c.361 p.L121V 1.000 smart_SH2,pirsf_N-chimaerin pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SH2,superfamily_Rho_GTPase_activation_prot,smart_SH2,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pirsf_N-chimaerin,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_DAG/PE-bd - no_errors CHN1 HGNC ENSG00000128656 120 0 0 92 34 26.9841 ATP5G3 0 genome.wustl.edu 37 2 176043783 176043783 + Splice_Site SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 176043783 176043783 A G SNP ATP5G3 ENST00000284727 human ensembl 74_37 -1 known splice_site c.314+2 e3+2 1.000 - - - no_errors ATP5G3 HGNC ENSG00000154518 64 0 0 42 9 17.6471 PLEKHA3 0 genome.wustl.edu 37 2 179368490 179368490 + Missense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 179368490 179368490 C A SNP PLEKHA3 ENST00000234453 human ensembl 74_37 +1 known missense c.779 p.P260H 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA3 HGNC ENSG00000116095 89 0 0 52 13 20 TTN 0 genome.wustl.edu 37 2 179408004 179408004 + Missense_Mutation SNP G G C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 179408004 179408004 G C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.88992 p.S29664R 1.000 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 220 1 0.452489 155 32 17.1123 TTN 0 genome.wustl.edu 37 2 179436698 179436698 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 179436698 179436698 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.66457 p.L22153 0.142 pfam_Ig_I-set,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,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 55 0 0 25 20 44.4444 TTN 0 genome.wustl.edu 37 2 179458949 179458949 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 179458949 179458949 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.50467 p.D16823N 0.999 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,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 88 0 0 56 16 22.2222 TTN 0 genome.wustl.edu 37 2 179472320 179472320 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 179472320 179472320 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.45391 p.R15131C 0.999 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2 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 333 0 0 261 96 26.8908 TTN 0 genome.wustl.edu 37 2 179480434 179480434 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 179480434 179480434 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.40690 p.R13564C 0.991 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 212 0 0 121 109 47.3913 TTN 0 genome.wustl.edu 37 2 179500910 179500910 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 179500910 179500910 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.33684 p.Q11228 1.000 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 38 0 0 19 16 45.7143 TTN 0 genome.wustl.edu 37 2 179641444 179641444 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 179641444 179641444 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.5147 p.R1716H 1.000 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 81 0 0 36 23 38.9831 TTN 0 genome.wustl.edu 37 2 179645962 179645962 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 179645962 179645962 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.3409 p.G1137S 1.000 pfam_Ig_I-set,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 52 0 0 36 15 29.4118 CWC22 0 genome.wustl.edu 37 2 180851432 180851432 + Missense_Mutation SNP T T G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 180851432 180851432 T G SNP CWC22 ENST00000295749 human ensembl 74_37 -1 known missense c.196 p.M66L 0.447 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI - no_errors CWC22 HGNC ENSG00000163510 28 0 0 6 9 60 KCNS3 0 genome.wustl.edu 37 2 18112795 18112795 + Nonsense_Mutation SNP A A T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 18112795 18112795 A T SNP KCNS3 ENST00000304101 human ensembl 74_37 +1 known nonsense c.520 p.R174* 0.001 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_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv2 - no_errors KCNS3 HGNC ENSG00000170745 71 0 0 30 36 54.5455 KCNS3 0 genome.wustl.edu 37 2 18112796 18112796 + Missense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 18112796 18112796 G T SNP KCNS3 ENST00000304101 human ensembl 74_37 +1 known missense c.521 p.R174I 0.031 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_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv2 - no_errors KCNS3 HGNC ENSG00000170745 72 0 0 30 35 53.8462 NCKAP1 0 genome.wustl.edu 37 2 183853877 183853877 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 183853877 183853877 G A SNP NCKAP1 ENST00000360982 human ensembl 74_37 -1 known silent c.846 p.D282 0.981 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1 - no_errors NCKAP1 HGNC ENSG00000061676 81 0 0 56 14 20 FSIP2 0 genome.wustl.edu 37 2 186673680 186673680 + Silent SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 186673680 186673680 A G SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known silent c.19914 p.Q6638 0.845 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 77 0 0 58 10 14.7059 COL3A1 0 genome.wustl.edu 37 2 189875587 189875587 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 189875587 189875587 A G SNP COL3A1 ENST00000304636 human ensembl 74_37 +1 known missense c.4225 p.T1409A 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL3A1 HGNC ENSG00000168542 165 0 0 128 69 35.0254 COL3A1 0 genome.wustl.edu 37 2 189876400 189876400 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 189876400 189876400 G A SNP COL3A1 ENST00000304636 human ensembl 74_37 +1 known missense c.4301 p.R1434H 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL3A1 HGNC ENSG00000168542 110 0 0 97 54 35.7616 PMS1 0 genome.wustl.edu 37 2 190742022 190742022 + Missense_Mutation SNP C C G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 190742022 190742022 C G SNP PMS1 ENST00000441310 human ensembl 74_37 +1 known missense c.2659 p.Q887E 1.000 NULL pfam_DNA_mismatch_repair_C,pfam_HMG_box_dom,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom,tigrfam_DNA_mismatch_repair_N - no_errors PMS1 HGNC ENSG00000064933 77 0 0 67 15 18.2927 DNAH7 0 genome.wustl.edu 37 2 196602680 196602680 + Missense_Mutation SNP G G C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 196602680 196602680 G C SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.12040 p.R4014G 0.996 pfam_Dynein_heavy_dom 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 73 0 0 38 18 32.1429 DNAH7 0 genome.wustl.edu 37 2 196834720 196834720 + Silent SNP T T A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 196834720 196834720 T A SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known silent c.2157 p.L719 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 82 0 0 52 14 21.2121 DNAH7 0 genome.wustl.edu 37 2 196922786 196922786 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 196922786 196922786 G A SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known silent c.70 p.L24 0.005 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 68 0 0 56 19 25.3333 PGAP1 0 genome.wustl.edu 37 2 197784835 197784835 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 197784835 197784835 C T SNP PGAP1 ENST00000354764 human ensembl 74_37 -1 known missense c.187 p.A63T 0.956 NULL pfam_PGAP1-like - no_errors PGAP1 HGNC ENSG00000197121 132 0 0 77 39 33.6207 SF3B1 0 genome.wustl.edu 37 2 198260814 198260814 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 198260814 198260814 C T SNP SF3B1 ENST00000335508 human ensembl 74_37 -1 known missense c.3505 p.V1169I 1.000 superfamily_ARM-type_fold pfam_SF3b_su1,superfamily_ARM-type_fold - no_errors SF3B1 HGNC ENSG00000115524 185 0 0 94 42 30.8824 MARS2 0 genome.wustl.edu 37 2 198571363 198571363 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 198571363 198571363 G A SNP MARS2 ENST00000282276 human ensembl 74_37 +1 known missense c.1234 p.A412T 1.000 superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Met-tRNA_synth pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth - no_errors MARS2 HGNC ENSG00000247626 211 0 0 200 42 17.3554 SATB2 0 genome.wustl.edu 37 2 200137067 200137067 + Missense_Mutation SNP T T A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 200137067 200137067 T A SNP SATB2 ENST00000260926 human ensembl 74_37 -1 known missense c.2069 p.K690M 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors SATB2 HGNC ENSG00000119042 144 0 0 150 69 31.5068 TYW5 0 genome.wustl.edu 37 2 200804837 200804837 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 200804837 200804837 C T SNP TYW5 ENST00000354611 human ensembl 74_37 -1 known missense c.323 p.R108Q 1.000 pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors TYW5 HGNC ENSG00000162971 144 0 0 94 34 26.5625 WDR35 0 genome.wustl.edu 37 2 20145702 20145702 + Nonsense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 20145702 20145702 G A SNP WDR35 ENST00000345530 human ensembl 74_37 -1 known nonsense c.1723 p.R575* 0.991 superfamily_WD40_repeat_dom,pirsf_WD_repeat_p35 pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR35 HGNC ENSG00000118965 234 0 0 103 82 44.3243 AOX1 0 genome.wustl.edu 37 2 201505841 201505841 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 201505841 201505841 C T SNP AOX1 ENST00000374700 human ensembl 74_37 +1 known silent c.2589 p.G863 0.999 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 72 0 0 79 17 17.7083 MPP4 0 genome.wustl.edu 37 2 202549797 202549797 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 202549797 202549797 C T SNP MPP4 ENST00000359962 human ensembl 74_37 -1 known silent c.564 p.A188 0.002 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP4 HGNC ENSG00000082126 12 0 0 16 6 27.2727 ALS2 0 genome.wustl.edu 37 2 202574690 202574690 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 202574690 202574690 G A SNP ALS2 ENST00000264276 human ensembl 74_37 -1 known silent c.4194 p.Y1398 0.988 NULL pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_RCC1/BLIP-II,superfamily_DH-domain,smart_MORN,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain,prints_Reg_chr_condens - no_errors ALS2 HGNC ENSG00000003393 99 0 0 78 44 36.0656 FAM117B 0 genome.wustl.edu 37 2 203622081 203622081 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 203622081 203622081 C T SNP FAM117B ENST00000392238 human ensembl 74_37 +1 known missense c.1250 p.S417L 0.994 NULL NULL - no_errors FAM117B HGNC ENSG00000138439 87 0 0 74 36 32.7273 CREB1 0 genome.wustl.edu 37 2 208440098 208440098 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 208440098 208440098 C T SNP CREB1 ENST00000432329 human ensembl 74_37 +1 known missense c.650 p.P217L 1.000 NULL pfam_Coactivator_CBP_pKID,pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_Coactivator_CBP_pKID,pfscan_bZIP,prints_Leuzip_CREB - no_errors CREB1 HGNC ENSG00000118260 139 0 0 121 43 26.2195 C2orf43 0 genome.wustl.edu 37 2 20974571 20974571 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 20974571 20974571 G A SNP C2orf43 ENST00000237822 human ensembl 74_37 -1 known missense c.467 p.P156L 0.991 pfam_DUF2305 pfam_DUF2305 - no_errors C2orf43 HGNC ENSG00000118961 133 0 0 90 45 33.3333 MAP2 0 genome.wustl.edu 37 2 210595034 210595034 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 210595034 210595034 G A SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known silent c.5397 p.S1799 0.608 NULL pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 47 0 0 22 19 46.3415 SPAG16 0 genome.wustl.edu 37 2 214354767 214354767 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 214354767 214354767 C T SNP SPAG16 ENST00000331683 human ensembl 74_37 +1 known silent c.1023 p.D341 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,prints_G-protein_beta_WD-40_rep - no_errors SPAG16 HGNC ENSG00000144451 106 0 0 76 7 8.43373 SPAG16 0 genome.wustl.edu 37 2 214878683 214878683 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 214878683 214878683 G A SNP SPAG16 ENST00000331683 human ensembl 74_37 +1 known missense c.1409 p.C470Y 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 SPAG16 HGNC ENSG00000144451 203 0 0 112 23 17.037 FN1 0 genome.wustl.edu 37 2 216272844 216272844 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 216272844 216272844 C T SNP FN1 ENST00000354785 human ensembl 74_37 -1 known silent c.2505 p.Q835 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 145 0 0 95 64 40.2516 FN1 0 genome.wustl.edu 37 2 216293030 216293030 + Silent SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 216293030 216293030 G T SNP FN1 ENST00000354785 human ensembl 74_37 -1 known silent c.717 p.S239 1.000 pfam_Fibronectin_type1,smart_Fibronectin_type1,pfscan_Fibronectin_type1 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 94 0 0 64 36 36 FN1 0 genome.wustl.edu 37 2 216300396 216300396 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 216300396 216300396 C T SNP FN1 ENST00000354785 human ensembl 74_37 -1 known missense c.130 p.A44T 0.355 NULL pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 19 0 0 29 3 9.375 TNS1 0 genome.wustl.edu 37 2 218749845 218749845 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 218749845 218749845 C T SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known missense c.784 p.V262I 0.999 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 72 0 0 69 35 33.6538 CXCR2P1 0 genome.wustl.edu 37 2 218925148 218925148 + RNA SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 218925148 218925148 C T SNP CXCR2P1 ENST00000439871 human ensembl 74_37 -1 known rna NULL NULL 0.414 - - - no_errors CXCR2P1 HGNC ENSG00000229754 115 0 0 69 53 43.4426 BCS1L 0 genome.wustl.edu 37 2 219525928 219525928 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 219525928 219525928 G A SNP BCS1L ENST00000359273 human ensembl 74_37 +1 known missense c.218 p.R73H 0.990 pfam_BCS1_N pfam_BCS1_N,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors BCS1L HGNC ENSG00000074582 223 0 0 162 89 35.4582 PRKAG3 0 genome.wustl.edu 37 2 219695073 219695073 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 219695073 219695073 G A SNP PRKAG3 ENST00000233944 human ensembl 74_37 -1 known silent c.261 p.T87 0.009 NULL pfam_CBS_dom,smart_CBS_dom - no_errors PRKAG3 HGNC ENSG00000115592 53 0 0 47 33 41.25 SPEG 0 genome.wustl.edu 37 2 220343908 220343908 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 220343908 220343908 C T SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel silent c.5070 p.T1690 0.997 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_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 49 0 0 23 18 43.9024 SLC4A3 0 genome.wustl.edu 37 2 220499298 220499298 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 220499298 220499298 G A SNP SLC4A3 ENST00000273063 human ensembl 74_37 +1 known missense c.1799 p.R600H 1.000 pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC ENSG00000114923 58 0 0 31 26 45.614 SCG2 0 genome.wustl.edu 37 2 224463151 224463151 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 224463151 224463151 G A SNP SCG2 ENST00000305409 human ensembl 74_37 -1 known missense c.850 p.R284C 0.999 pfam_Granin pfam_Granin - no_errors SCG2 HGNC ENSG00000171951 354 0 0 175 145 45.3125 TRIP12 0 genome.wustl.edu 37 2 230633979 230633979 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 230633979 230633979 G A SNP TRIP12 ENST00000283943 human ensembl 74_37 -1 known silent c.5646 p.C1882 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC ENSG00000153827 125 0 0 81 25 23.5849 TRIP12 0 genome.wustl.edu 37 2 230672494 230672494 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 230672494 230672494 G A SNP TRIP12 ENST00000283943 human ensembl 74_37 -1 known missense c.2282 p.A761V 1.000 superfamily_ARM-type_fold,pfscan_WWE-dom pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC ENSG00000153827 64 0 0 39 9 18.75 SP140 0 genome.wustl.edu 37 2 231134660 231134660 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 231134660 231134660 G A SNP SP140 ENST00000392045 human ensembl 74_37 +1 known missense c.1436 p.G479D 0.001 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain - no_errors SP140 HGNC ENSG00000079263 81 0 0 47 29 38.1579 SP140L 0 genome.wustl.edu 37 2 231222653 231222653 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 231222653 231222653 C T SNP SP140L ENST00000415673 human ensembl 74_37 +1 known missense c.241 p.R81W 0.011 pfam_Sp100 pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain - no_errors SP140L HGNC ENSG00000185404 250 0 0 120 89 42.5837 PSMD1 0 genome.wustl.edu 37 2 232011002 232011002 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 232011002 232011002 G A SNP PSMD1 ENST00000308696 human ensembl 74_37 +1 known missense c.2047 p.V683M 1.000 pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2 pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2 - no_errors PSMD1 HGNC ENSG00000173692 145 1 0.684932 106 30 22.0588 C2orf57 0 genome.wustl.edu 37 2 232458076 232458076 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 232458076 232458076 G A SNP C2orf57 ENST00000313965 human ensembl 74_37 +1 known silent c.414 p.A138 0.000 NULL NULL - no_errors C2orf57 HGNC ENSG00000177673 107 0 0 54 50 48.0769 ALPPL2 0 genome.wustl.edu 37 2 233274497 233274497 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 233274497 233274497 C T SNP ALPPL2 ENST00000295453 human ensembl 74_37 +1 known missense c.1514 p.A505V 0.000 NULL pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPPL2 HGNC ENSG00000163286 17 0 0 28 4 12.5 SH3BP4 0 genome.wustl.edu 37 2 235950856 235950856 + Silent SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 235950856 235950856 T C SNP SH3BP4 ENST00000344528 human ensembl 74_37 +1 known silent c.1443 p.P481 1.000 NULL pfam_SH3_2,pfam_SH3_domain,pfam_ZU5,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors SH3BP4 HGNC ENSG00000130147 75 0 0 66 22 25 AGAP1 0 genome.wustl.edu 37 2 237028934 237028934 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 237028934 237028934 G A SNP AGAP1 ENST00000304032 human ensembl 74_37 +1 known missense c.2213 p.R738Q 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom 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 48 0 0 60 17 22.0779 ASB1 0 genome.wustl.edu 37 2 239342333 239342333 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 239342333 239342333 G A SNP ASB1 ENST00000264607 human ensembl 74_37 +1 known missense c.188 p.R63Q 0.883 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB1 HGNC ENSG00000065802 69 0 0 41 27 39.7059 OR6B2 0 genome.wustl.edu 37 2 240969167 240969167 + Missense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 240969167 240969167 C A SNP OR6B2 ENST00000402971 human ensembl 74_37 -1 known missense c.680 p.R227L 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6B2 HGNC ENSG00000182083 46 0 0 48 14 22.5806 PRR21 0 genome.wustl.edu 37 2 240982128 240982128 + Missense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 240982128 240982128 G T SNP PRR21 ENST00000408934 human ensembl 74_37 -1 known missense c.272 p.P91H 0.001 NULL NULL - no_errors PRR21 HGNC ENSG00000221961 78 0 0 61 37 37.7551 ANKMY1 0 genome.wustl.edu 37 2 241463321 241463321 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 241463321 241463321 T C SNP ANKMY1 ENST00000272972 human ensembl 74_37 -1 known missense c.1546 p.M516V 0.722 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt pfam_Ankyrin_rpt,pfam_MORN,pfam_Znf_MYND,superfamily_Ankyrin_rpt-contain_dom,smart_MORN,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_MYND - no_errors ANKMY1 HGNC ENSG00000144504 64 0 0 44 16 26.6667 ANKMY1 0 genome.wustl.edu 37 2 241465683 241465683 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 241465683 241465683 G A SNP ANKMY1 ENST00000272972 human ensembl 74_37 -1 known missense c.866 p.A289V 0.978 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_MORN,pfam_Znf_MYND,superfamily_Ankyrin_rpt-contain_dom,smart_MORN,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_MYND - no_errors ANKMY1 HGNC ENSG00000144504 84 0 0 67 60 47.2441 PASK 0 genome.wustl.edu 37 2 242065999 242065999 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 242065999 242065999 G A SNP PASK ENST00000358649 human ensembl 74_37 -1 known silent c.2331 p.S777 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAS_fold,superfamily_Kinase-like_dom,superfamily_PAS,smart_PAS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAS,pfscan_Prot_kinase_dom,tigrfam_PAS - no_errors PASK HGNC ENSG00000115687 98 0 0 72 35 32.7103 PPP1R7 0 genome.wustl.edu 37 2 242102698 242102698 + Splice_Site SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 242102698 242102698 A G SNP PPP1R7 ENST00000234038 human ensembl 74_37 +1 known splice_site c.598-2 e7-2 1.000 - - - no_errors PPP1R7 HGNC ENSG00000115685 440 0 0 411 97 19.0945 HDLBP 0 genome.wustl.edu 37 2 242169367 242169367 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 242169367 242169367 C T SNP HDLBP ENST00000310931 human ensembl 74_37 -1 known missense c.3601 p.V1201M 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC ENSG00000115677 20 0 0 19 4 17.3913 HDLBP 0 genome.wustl.edu 37 2 242173273 242173273 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 242173273 242173273 C T SNP HDLBP ENST00000310931 human ensembl 74_37 -1 known missense c.3250 p.V1084M 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 107 0 0 91 15 14.1509 THAP4 0 genome.wustl.edu 37 2 242572368 242572368 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 242572368 242572368 C T SNP THAP4 ENST00000407315 human ensembl 74_37 -1 known missense c.1204 p.V402I 0.001 NULL pfam_DUF1794,pfam_Znf_C2CH,superfamily_Calycin-like,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP4 HGNC ENSG00000176946 31 0 0 12 9 42.8571 ITSN2 0 genome.wustl.edu 37 2 24431159 24431159 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 24431159 24431159 G A SNP ITSN2 ENST00000355123 human ensembl 74_37 -1 known missense c.4625 p.A1542V 0.997 superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN2 HGNC ENSG00000198399 179 0 0 117 72 38.0952 DNMT3A 0 genome.wustl.edu 37 2 25464524 25464524 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 25464524 25464524 C T SNP DNMT3A ENST00000264709 human ensembl 74_37 -1 known silent c.1989 p.S663 0.579 pfam_C5_MeTfrase pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom - no_errors DNMT3A HGNC ENSG00000119772 35 0 0 18 20 52.6316 KIF3C 0 genome.wustl.edu 37 2 26177191 26177191 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 26177191 26177191 C T SNP KIF3C ENST00000264712 human ensembl 74_37 -1 known missense c.1834 p.V612M 0.990 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3C HGNC ENSG00000084731 90 0 0 40 35 46.6667 OTOF 0 genome.wustl.edu 37 2 26707419 26707419 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 26707419 26707419 G A SNP OTOF ENST00000272371 human ensembl 74_37 -1 known silent c.1128 p.D376 1.000 pfam_FerIin-domain,superfamily_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 41 0 0 39 9 18.75 SLC30A3 0 genome.wustl.edu 37 2 27478206 27478206 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 27478206 27478206 G A SNP SLC30A3 ENST00000233535 human ensembl 74_37 -1 known missense c.1141 p.R381C 1.000 NULL pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A3 HGNC ENSG00000115194 69 0 0 49 45 47.8723 C2orf16 0 genome.wustl.edu 37 2 27799940 27799940 + Missense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 27799940 27799940 G T SNP C2orf16 ENST00000408964 human ensembl 74_37 +1 known missense c.501 p.L167F 0.012 NULL NULL - no_errors C2orf16 HGNC ENSG00000221843 115 0 0 77 21 21.4286 TTC27 0 genome.wustl.edu 37 2 32958960 32958960 + Nonsense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 32958960 32958960 C A SNP TTC27 ENST00000317907 human ensembl 74_37 +1 known nonsense c.1299 p.C433* 1.000 NULL pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC27 HGNC ENSG00000018699 163 0 0 109 31 22.1429 TTC27 0 genome.wustl.edu 37 2 32961762 32961762 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 32961762 32961762 G A SNP TTC27 ENST00000317907 human ensembl 74_37 +1 known missense c.1331 p.R444H 1.000 NULL pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC27 HGNC ENSG00000018699 101 0 0 68 24 26.087 LTBP1 0 genome.wustl.edu 37 2 33360021 33360021 + Nonsense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 33360021 33360021 C T SNP LTBP1 ENST00000354476 human ensembl 74_37 +1 known nonsense c.1195 p.R399* 1.000 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 38 0 0 18 14 43.75 LTBP1 0 genome.wustl.edu 37 2 33572510 33572510 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 33572510 33572510 C T SNP LTBP1 ENST00000354476 human ensembl 74_37 +1 known silent c.3936 p.C1312 0.984 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 113 0 0 79 15 15.9574 MYADML 0 genome.wustl.edu 37 2 33952620 33952620 + RNA SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 33952620 33952620 C T SNP MYADML ENST00000474610 human ensembl 74_37 -1 known rna NULL NULL 0.194 - - - no_errors MYADML HGNC ENSG00000239649 40 0 0 25 7 21.875 OXER1 0 genome.wustl.edu 37 2 42990174 42990174 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 42990174 42990174 G A SNP OXER1 ENST00000378661 human ensembl 74_37 -1 known silent c.1146 p.D382 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors OXER1 HGNC ENSG00000162881 80 0 0 45 40 47.0588 ABCG5 0 genome.wustl.edu 37 2 44055164 44055164 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 44055164 44055164 G A SNP ABCG5 ENST00000260645 human ensembl 74_37 -1 known missense c.592 p.R198W 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCG5 HGNC ENSG00000138075 49 0 0 26 29 52.7273 ABCG8 0 genome.wustl.edu 37 2 44079964 44079964 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 44079964 44079964 C T SNP ABCG8 ENST00000272286 human ensembl 74_37 +1 known silent c.921 p.I307 0.000 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,pfscan_ABC_transporter-like - no_errors ABCG8 HGNC ENSG00000143921 157 0 0 77 62 44.6043 PPP1R21 0 genome.wustl.edu 37 2 48685352 48685352 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 48685352 48685352 C T SNP PPP1R21 ENST00000294952 human ensembl 74_37 +1 known missense c.361 p.R121W 1.000 NULL pfam_KLRAQ/TTKRSYEDQ_C,pfam_Unchr_KLRAQ/TTKRSYEDQ_N,superfamily_Ferritin-like_SF - no_errors PPP1R21 HGNC ENSG00000162869 122 0 0 41 36 46.7532 FSHR 0 genome.wustl.edu 37 2 49217735 49217735 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 49217735 49217735 T C SNP FSHR ENST00000406846 human ensembl 74_37 -1 known missense c.416 p.H139R 1.000 prints_FSH_rcpt,prints_TSH_rcpt pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_7TM,prints_FSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt - no_errors FSHR HGNC ENSG00000170820 118 0 0 127 22 14.7651 USP34 0 genome.wustl.edu 37 2 61447484 61447484 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 61447484 61447484 G A SNP USP34 ENST00000398571 human ensembl 74_37 -1 known missense c.8008 p.R2670W 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 518 0 0 369 109 22.8033 USP34 0 genome.wustl.edu 37 2 61463296 61463296 + Missense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 61463296 61463296 C A SNP USP34 ENST00000398571 human ensembl 74_37 -1 known missense c.6918 p.K2306N 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 54 0 0 26 12 31.5789 USP34 0 genome.wustl.edu 37 2 61577479 61577479 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 61577479 61577479 C T SNP USP34 ENST00000398571 human ensembl 74_37 -1 known missense c.1423 p.A475T 1.000 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 96 0 0 70 27 27.8351 GFPT1 0 genome.wustl.edu 37 2 69590695 69590695 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 69590695 69590695 G A SNP GFPT1 ENST00000357308 human ensembl 74_37 -1 known missense c.331 p.R111C 1.000 pfam_GATase_dom pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT1 HGNC ENSG00000198380 77 0 0 56 9 13.8462 DYSF 0 genome.wustl.edu 37 2 71742778 71742778 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 71742778 71742778 G A SNP DYSF ENST00000413539 human ensembl 74_37 +1 known missense c.782 p.R261H 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom 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 192 0 0 130 83 38.9671 PRADC1 0 genome.wustl.edu 37 2 73456018 73456018 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 73456018 73456018 G A SNP PRADC1 ENST00000258083 human ensembl 74_37 -1 known silent c.351 p.N117 0.978 pfam_Protease-assoc_domain pfam_Protease-assoc_domain - no_errors PRADC1 HGNC ENSG00000135617 27 0 0 16 11 40.7407 ALMS1 0 genome.wustl.edu 37 2 73717195 73717195 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 73717195 73717195 G A SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known silent c.8106 p.P2702 0.001 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 312 1 0.319489 243 147 37.6923 ALMS1 0 genome.wustl.edu 37 2 73829423 73829423 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 73829423 73829423 C T SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known missense c.12223 p.R4075W 1.000 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 68 0 0 57 39 40.625 STAMBP 0 genome.wustl.edu 37 2 74074539 74074539 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 74074539 74074539 G A SNP STAMBP ENST00000339566 human ensembl 74_37 +1 known missense c.401 p.R134Q 0.703 NULL pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors STAMBP HGNC ENSG00000124356 53 0 0 44 23 34.3284 CCDC142 0 genome.wustl.edu 37 2 74701736 74701736 + Silent SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 74701736 74701736 T C SNP CCDC142 ENST00000393965 human ensembl 74_37 -1 known silent c.2190 p.Q730 0.965 NULL NULL - no_errors CCDC142 HGNC ENSG00000135637 43 0 0 39 10 20.4082 HK2 0 genome.wustl.edu 37 2 75094895 75094895 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 75094895 75094895 G A SNP HK2 ENST00000290573 human ensembl 74_37 +1 known missense c.359 p.R120Q 0.507 pfam_Hexokinase_N pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK2 HGNC ENSG00000159399 452 1 0.220751 394 168 29.8932 POLE4 0 genome.wustl.edu 37 2 75187275 75187275 + Splice_Site SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 75187275 75187275 T C SNP POLE4 ENST00000483063 human ensembl 74_37 +1 known splice_site c.340+2 e3+2 1.000 - - - no_errors POLE4 HGNC ENSG00000115350 163 1 0.609756 158 31 16.4021 LRRTM4 0 genome.wustl.edu 37 2 77746577 77746577 + Missense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 77746577 77746577 G T SNP LRRTM4 ENST00000409911 human ensembl 74_37 -1 known missense c.421 p.L141I 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM4 HGNC ENSG00000176204 78 0 0 65 9 12.1622 TCF7L1 0 genome.wustl.edu 37 2 85510676 85510676 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 85510676 85510676 C T SNP TCF7L1 ENST00000282111 human ensembl 74_37 +1 known missense c.500 p.T167M 0.990 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 TCF7L1 HGNC ENSG00000152284 242 0 0 177 96 35.1648 ELMOD3 0 genome.wustl.edu 37 2 85604560 85604560 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 85604560 85604560 C T SNP ELMOD3 ENST00000315658 human ensembl 74_37 +1 known missense c.701 p.A234V 1.000 pfam_Engulfment_cell_motility_ELMO pfam_Engulfment_cell_motility_ELMO - no_errors ELMOD3 HGNC ENSG00000115459 46 0 0 29 26 47.2727 USP39 0 genome.wustl.edu 37 2 85852703 85852703 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 85852703 85852703 C T SNP USP39 ENST00000409470 human ensembl 74_37 +1 known silent c.612 p.N204 1.000 NULL pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP39 HGNC ENSG00000168883 147 0 0 120 63 34.4262 KDM3A 0 genome.wustl.edu 37 2 86705018 86705018 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 86705018 86705018 G A SNP KDM3A ENST00000312912 human ensembl 74_37 +1 known missense c.1958 p.R653Q 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3A HGNC ENSG00000115548 115 0 0 91 54 37.2414 RGPD1 0 genome.wustl.edu 37 2 87141004 87141004 + Missense_Mutation SNP A A T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 87141004 87141004 A T SNP RGPD1 ENST00000398193 human ensembl 74_37 +1 known missense c.32 p.Y11F 0.426 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_2,pfam_TPR_1,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD1 HGNC ENSG00000187627 10 0 0 13 3 18.75 TEX37 0 genome.wustl.edu 37 2 88828701 88828701 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 88828701 88828701 C T SNP TEX37 ENST00000303254 human ensembl 74_37 +1 known silent c.252 p.P84 0.001 NULL NULL - no_errors TEX37 HGNC ENSG00000172073 154 0 0 110 59 34.9112 TEX37 0 genome.wustl.edu 37 2 88828929 88828929 + Missense_Mutation SNP T T A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 88828929 88828929 T A SNP TEX37 ENST00000303254 human ensembl 74_37 +1 known missense c.480 p.H160Q 0.002 NULL NULL - no_errors TEX37 HGNC ENSG00000172073 109 0 0 109 23 17.4242 ENSG00000240040 0 genome.wustl.edu 37 2 89111034 89111034 + RNA SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 89111034 89111034 G T SNP ENSG00000240040 ENST00000452230 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors AC096579.13 Clone_based_vega_gene ENSG00000240040 16 0 0 5 5 50 FAHD2A 0 genome.wustl.edu 37 2 96072707 96072707 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 96072707 96072707 G A SNP FAHD2A ENST00000233379 human ensembl 74_37 +1 known silent c.264 p.L88 0.947 NULL pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel - no_errors FAHD2A HGNC ENSG00000115042 25 0 0 24 4 14.2857 ADRA2B 0 genome.wustl.edu 37 2 96781764 96781764 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 96781764 96781764 G A SNP ADRA2B ENST00000409345 human ensembl 74_37 -1 known missense c.125 p.S42L 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2B_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA2B HGNC ENSG00000222040 31 0 0 13 5 27.7778 CNNM3 0 genome.wustl.edu 37 2 97493617 97493617 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 97493617 97493617 T C SNP CNNM3 ENST00000305510 human ensembl 74_37 +1 known missense c.1669 p.Y557H 1.000 superfamily_cNMP-bd-like pfam_DUF21,superfamily_RNA_pol_subH/Rpb5_C,superfamily_cNMP-bd-like - no_errors CNNM3 HGNC ENSG00000168763 74 0 0 66 15 18.5185 ANKRD36 0 genome.wustl.edu 37 2 97866079 97866079 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 97866079 97866079 C T SNP ANKRD36 ENST00000420699 human ensembl 74_37 +1 known missense c.2764 p.R922W 0.001 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36 HGNC ENSG00000135976 57 0 0 48 14 22.5806 ACTR1B 0 genome.wustl.edu 37 2 98274730 98274730 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 98274730 98274730 G A SNP ACTR1B ENST00000289228 human ensembl 74_37 -1 known missense c.707 p.T236M 0.996 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTR1B HGNC ENSG00000115073 53 0 0 34 21 38.1818 TMEM131 0 genome.wustl.edu 37 2 98409165 98409165 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 98409165 98409165 C T SNP TMEM131 ENST00000186436 human ensembl 74_37 -1 known silent c.3828 p.A1276 0.154 NULL pfam_DUF3651_TMEM131 - no_errors TMEM131 HGNC ENSG00000075568 55 0 0 40 32 44.4444 LYG1 0 genome.wustl.edu 37 2 99907721 99907721 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 99907721 99907721 G A SNP LYG1 ENST00000308528 human ensembl 74_37 -1 known silent c.312 p.G104 0.000 superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23 superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23 - no_errors LYG1 HGNC ENSG00000144214 91 0 0 73 24 24.7423 ANKEF1 0 genome.wustl.edu 37 20 10025143 10025143 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 10025143 10025143 C T SNP ANKEF1 ENST00000378380 human ensembl 74_37 +1 known silent c.648 p.N216 0.580 superfamily_Ankyrin_rpt-contain_dom,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,pfscan_EF_hand_dom,prints_Ankyrin_rpt - no_errors ANKEF1 HGNC ENSG00000132623 217 0 0 182 39 17.6471 SPTLC3 0 genome.wustl.edu 37 20 13052982 13052982 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 13052982 13052982 C T SNP SPTLC3 ENST00000399002 human ensembl 74_37 +1 known missense c.382 p.R128W 1.000 NULL pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase - no_errors SPTLC3 HGNC ENSG00000172296 432 0 0 234 171 42.2222 KIF16B 0 genome.wustl.edu 37 20 16254045 16254045 + Missense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 16254045 16254045 C A SNP KIF16B ENST00000354981 human ensembl 74_37 -1 known missense c.3807 p.R1269S 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Kinesin_motor_dom,pfam_Phox,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,superfamily_Phox,smart_Kinesin_motor_dom,smart_Phox,pfscan_Phox,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF16B HGNC ENSG00000089177 72 0 0 49 11 18.3333 BFSP1 0 genome.wustl.edu 37 20 17489623 17489623 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 17489623 17489623 G A SNP BFSP1 ENST00000377873 human ensembl 74_37 -1 known missense c.646 p.R216W 0.998 superfamily_Prefoldin pfam_IF,superfamily_Prefoldin - no_errors BFSP1 HGNC ENSG00000125864 18 0 0 8 6 42.8571 GGTLC1 0 genome.wustl.edu 37 20 23966583 23966583 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 23966583 23966583 C T SNP GGTLC1 ENST00000278765 human ensembl 74_37 -1 known silent c.333 p.P111 0.999 pfam_GGT_peptidase,prints_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGTLC1 HGNC ENSG00000149435 134 0 0 89 24 21.2389 SNRPB 0 genome.wustl.edu 37 20 2446420 2446420 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 2446420 2446420 G A SNP SNRPB ENST00000438552 human ensembl 74_37 -1 known silent c.201 p.L67 0.188 pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN - no_errors SNRPB HGNC ENSG00000125835 127 0 0 96 24 20 PCED1A 0 genome.wustl.edu 37 20 2818988 2818988 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 2818988 2818988 C T SNP PCED1A ENST00000360652 human ensembl 74_37 -1 known missense c.731 p.R244Q 0.889 NULL NULL - no_errors PCED1A HGNC ENSG00000132635 129 0 0 91 17 15.7407 TTLL9 0 genome.wustl.edu 37 20 30497598 30497598 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 30497598 30497598 G A SNP TTLL9 ENST00000375938 human ensembl 74_37 +1 known missense c.377 p.R126H 0.921 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL9 HGNC ENSG00000131044 54 0 0 60 5 7.69231 TTLL9 0 genome.wustl.edu 37 20 30507704 30507704 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 30507704 30507704 G A SNP TTLL9 ENST00000375938 human ensembl 74_37 +1 known missense c.542 p.R181H 1.000 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL9 HGNC ENSG00000131044 86 0 0 88 42 32.3077 TM9SF4 0 genome.wustl.edu 37 20 30720866 30720866 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 30720866 30720866 C T SNP TM9SF4 ENST00000398022 human ensembl 74_37 +1 known silent c.66 p.S22 0.001 NULL pfam_EMP70 - no_errors TM9SF4 HGNC ENSG00000101337 95 0 0 114 19 14.2857 TM9SF4 0 genome.wustl.edu 37 20 30749115 30749115 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 30749115 30749115 G A SNP TM9SF4 ENST00000398022 human ensembl 74_37 +1 known missense c.1726 p.G576R 1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF4 HGNC ENSG00000101337 62 0 0 68 13 16.0494 ASXL1 0 genome.wustl.edu 37 20 31022934 31022934 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 31022934 31022934 G A SNP ASXL1 ENST00000375687 human ensembl 74_37 +1 known missense c.2419 p.V807I 0.000 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 115 0 0 84 48 36.3636 ASXL1 0 genome.wustl.edu 37 20 31023718 31023718 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 31023718 31023718 G A SNP ASXL1 ENST00000375687 human ensembl 74_37 +1 known missense c.3203 p.R1068Q 0.700 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 155 0 0 136 74 35.2381 BPIFB2 0 genome.wustl.edu 37 20 31600673 31600673 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 31600673 31600673 C T SNP BPIFB2 ENST00000170150 human ensembl 74_37 +1 known missense c.268 p.R90C 0.007 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB2 HGNC ENSG00000078898 282 1 0.353357 192 138 41.8182 FAM83C 0 genome.wustl.edu 37 20 33875137 33875137 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 33875137 33875137 C T SNP FAM83C ENST00000374408 human ensembl 74_37 -1 known missense c.1445 p.R482Q 0.000 NULL pfam_DUF1669 - no_errors FAM83C HGNC ENSG00000125998 91 0 0 82 42 33.871 SIGLEC1 0 genome.wustl.edu 37 20 3672109 3672109 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 3672109 3672109 G A SNP SIGLEC1 ENST00000344754 human ensembl 74_37 -1 known missense c.4469 p.A1490V 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC1 HGNC ENSG00000088827 145 0 0 85 54 38.8489 SIGLEC1 0 genome.wustl.edu 37 20 3683941 3683941 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 3683941 3683941 C T SNP SIGLEC1 ENST00000344754 human ensembl 74_37 -1 known silent c.1131 p.L377 0.009 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC1 HGNC ENSG00000088827 97 0 0 56 37 39.7849 KIAA1755 0 genome.wustl.edu 37 20 36848128 36848128 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 36848128 36848128 G A SNP KIAA1755 ENST00000279024 human ensembl 74_37 -1 known silent c.2460 p.D820 0.036 NULL superfamily_CRAL-TRIO_dom - no_errors KIAA1755 HGNC ENSG00000149633 153 0 0 140 77 35.4839 ACTR5 0 genome.wustl.edu 37 20 37400240 37400240 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 37400240 37400240 C T SNP ACTR5 ENST00000243903 human ensembl 74_37 +1 known silent c.1605 p.Y535 0.921 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related - no_errors ACTR5 HGNC ENSG00000101442 92 0 0 95 24 20.1681 PPP1R16B 0 genome.wustl.edu 37 20 37536484 37536484 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 37536484 37536484 C T SNP PPP1R16B ENST00000299824 human ensembl 74_37 +1 known silent c.934 p.L312 0.990 superfamily_Ankyrin_rpt-contain_dom,pirsf_Pase-1_reg_su_16AB_euk pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R16B HGNC ENSG00000101445 76 0 0 59 43 42.1569 FAM83D 0 genome.wustl.edu 37 20 37580403 37580403 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 37580403 37580403 G A SNP FAM83D ENST00000217429 human ensembl 74_37 +1 known missense c.1088 p.R363Q 1.000 NULL pfam_DUF1669 - no_errors FAM83D HGNC ENSG00000101447 149 0 0 120 70 36.8421 TOP1 0 genome.wustl.edu 37 20 39713178 39713178 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 39713178 39713178 C T SNP TOP1 ENST00000361337 human ensembl 74_37 +1 known missense c.584 p.P195L 1.000 NULL pfam_TopoI_DNA-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_DNA-bd_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk,prints_TopoI - no_errors TOP1 HGNC ENSG00000198900 9 0 0 8 4 33.3333 PLCG1 0 genome.wustl.edu 37 20 39788291 39788291 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 39788291 39788291 G A SNP PLCG1 ENST00000244007 human ensembl 74_37 +1 known missense c.263 p.R88Q 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pirsf_PLC-gamma,pfscan_Pleckstrin_homology pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_dom,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2 - no_errors PLCG1 HGNC ENSG00000124181 74 0 0 70 40 36.3636 ZHX3 0 genome.wustl.edu 37 20 39833083 39833083 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 39833083 39833083 G A SNP ZHX3 ENST00000309060 human ensembl 74_37 -1 known silent c.474 p.S158 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors ZHX3 HGNC ENSG00000174306 129 0 0 103 54 34.3949 JPH2 0 genome.wustl.edu 37 20 42788616 42788616 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 42788616 42788616 C T SNP JPH2 ENST00000372980 human ensembl 74_37 -1 known missense c.811 p.E271K 0.868 pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH2 HGNC ENSG00000149596 10 0 0 5 9 64.2857 OSER1 0 genome.wustl.edu 37 20 42826091 42826091 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 42826091 42826091 C T SNP OSER1 ENST00000255174 human ensembl 74_37 -1 known silent c.480 p.E160 0.997 pfam_DUF776 pfam_DUF776 - no_errors OSER1 HGNC ENSG00000132823 145 0 0 97 63 39.375 SERINC3 0 genome.wustl.edu 37 20 43129822 43129822 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 43129822 43129822 C T SNP SERINC3 ENST00000255175 human ensembl 74_37 -1 known missense c.1175 p.R392Q 1.000 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC3 HGNC ENSG00000132824 102 0 0 87 57 39.5833 ZSWIM1 0 genome.wustl.edu 37 20 44512444 44512444 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 44512444 44512444 C T SNP ZSWIM1 ENST00000372520 human ensembl 74_37 +1 known missense c.1213 p.R405C 0.000 pfscan_Znf_SWIM pfam_Znf_SWIM,pfscan_Znf_SWIM - no_errors ZSWIM1 HGNC ENSG00000168612 61 0 0 83 18 17.8218 SLC12A5 0 genome.wustl.edu 37 20 44685204 44685204 + Splice_Site SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 44685204 44685204 G A SNP SLC12A5 ENST00000454036 human ensembl 74_37 +1 known splice_site c.3179+1 e23+1 1.000 - - - no_errors SLC12A5 HGNC ENSG00000124140 41 0 0 46 9 16.3636 SLC12A5 0 genome.wustl.edu 37 20 44685838 44685838 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 44685838 44685838 C T SNP SLC12A5 ENST00000454036 human ensembl 74_37 +1 known missense c.3224 p.T1075M 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 108 0 0 89 52 36.8794 CDH22 0 genome.wustl.edu 37 20 44806829 44806829 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 44806829 44806829 G A SNP CDH22 ENST00000372262 human ensembl 74_37 -1 known silent c.1671 p.T557 0.548 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,superfamily_MFS_dom_general_subst_transpt,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH22 HGNC ENSG00000149654 53 0 0 37 21 36.2069 SLC13A3 0 genome.wustl.edu 37 20 45192105 45192105 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 45192105 45192105 G A SNP SLC13A3 ENST00000279027 human ensembl 74_37 -1 known missense c.1580 p.T527M 0.996 pfam_Na/sul_symport,pfam_Cit_transptr-like_dom pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A3 HGNC ENSG00000158296 34 0 0 47 12 20.339 SULF2 0 genome.wustl.edu 37 20 46331303 46331303 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 46331303 46331303 C T SNP SULF2 ENST00000359930 human ensembl 74_37 -1 known missense c.527 p.R176Q 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF2 HGNC ENSG00000196562 46 0 0 34 31 47.6923 ZFAS1 0 genome.wustl.edu 37 20 47895640 47895640 + Splice_Site SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 47895640 47895640 G T SNP ZFAS1 ENST00000326677 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.954 - - - no_errors ZFAS1 HGNC ENSG00000177410 23 0 0 15 4 21.0526 SLC23A2 0 genome.wustl.edu 37 20 4864313 4864313 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 4864313 4864313 C T SNP SLC23A2 ENST00000338244 human ensembl 74_37 -1 known missense c.799 p.G267R 1.000 pfam_Xant/urac/vitC pfam_Xant/urac/vitC - no_errors SLC23A2 HGNC ENSG00000089057 151 0 0 122 33 21.2903 ATP9A 0 genome.wustl.edu 37 20 50273505 50273505 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 50273505 50273505 C T SNP ATP9A ENST00000338821 human ensembl 74_37 -1 known missense c.1478 p.R493H 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 ATP9A HGNC ENSG00000054793 31 0 0 18 17 48.5714 SALL4 0 genome.wustl.edu 37 20 50406728 50406728 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 50406728 50406728 G A SNP SALL4 ENST00000217086 human ensembl 74_37 -1 known missense c.2294 p.S765L 0.831 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 59 0 0 38 23 37.7049 AURKA 0 genome.wustl.edu 37 20 54961464 54961464 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 54961464 54961464 G A SNP AURKA ENST00000312783 human ensembl 74_37 -1 known silent c.168 p.R56 0.209 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 AURKA HGNC ENSG00000087586 128 0 0 126 27 17.6471 ZBP1 0 genome.wustl.edu 37 20 56179814 56179814 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 56179814 56179814 C T SNP ZBP1 ENST00000371173 human ensembl 74_37 -1 known missense c.1105 p.A369T 0.000 NULL pfam_dsRNA_A_deaminase,smart_dsRNA_A_deaminase - no_errors ZBP1 HGNC ENSG00000124256 89 0 0 86 40 31.746 GNAS 0 genome.wustl.edu 37 20 57484421 57484421 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 57484421 57484421 G A SNP GNAS ENST00000354359 human ensembl 74_37 +1 known missense c.605 p.R202H 1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,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_S,prints_Gprotein_alpha_su - no_errors GNAS HGNC ENSG00000087460 109 0 0 79 43 35.2459 ZNF831 0 genome.wustl.edu 37 20 57767105 57767105 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 57767105 57767105 C T SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel missense c.1031 p.S344L 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 34 0 0 29 13 30.9524 PHACTR3 0 genome.wustl.edu 37 20 58330401 58330401 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 58330401 58330401 G A SNP PHACTR3 ENST00000371015 human ensembl 74_37 +1 known missense c.523 p.A175T 0.000 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR3 HGNC ENSG00000087495 44 0 0 29 10 25.641 LRRN4 0 genome.wustl.edu 37 20 6022502 6022502 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 6022502 6022502 G A SNP LRRN4 ENST00000378858 human ensembl 74_37 -1 known silent c.1389 p.P463 0.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LRRN4 HGNC ENSG00000125872 134 0 0 137 35 20.3488 OSBPL2 0 genome.wustl.edu 37 20 60856153 60856153 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 60856153 60856153 C T SNP OSBPL2 ENST00000313733 human ensembl 74_37 +1 known silent c.714 p.C238 0.988 pfam_Oxysterol-bd pfam_Oxysterol-bd - no_errors OSBPL2 HGNC ENSG00000130703 170 0 0 196 63 24.3243 LAMA5 0 genome.wustl.edu 37 20 60886548 60886548 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 60886548 60886548 C T SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.9851 p.G3284D 0.001 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,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,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 28 0 0 19 4 17.3913 C20orf166-AS1 0 genome.wustl.edu 37 20 61143777 61143777 + RNA SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 61143777 61143777 G A SNP C20orf166-AS1 ENST00000412495 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors C20orf166-AS1 HGNC ENSG00000174403 131 0 0 111 81 42.1875 SLCO4A1 0 genome.wustl.edu 37 20 61288414 61288414 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 61288414 61288414 C T SNP SLCO4A1 ENST00000217159 human ensembl 74_37 +1 known missense c.608 p.A203V 0.001 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 SLCO4A1 HGNC ENSG00000101187 32 0 0 31 21 40.3846 COL9A3 0 genome.wustl.edu 37 20 61461755 61461755 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 61461755 61461755 G A SNP COL9A3 ENST00000343916 human ensembl 74_37 +1 known missense c.1205 p.R402Q 0.895 NULL pfam_Collagen - no_errors COL9A3 HGNC ENSG00000092758 10 0 0 4 4 50 EEF1A2 0 genome.wustl.edu 37 20 62120472 62120472 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 62120472 62120472 C T SNP EEF1A2 ENST00000217182 human ensembl 74_37 -1 known missense c.1063 p.A355T 0.907 pfam_Transl_elong_EFTu/EF1A_C,superfamily_Transl_elong_EF1A/Init_IF2_C,tigrfam_Transl_elong_EF1A_euk/arc pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc - no_errors EEF1A2 HGNC ENSG00000101210 37 0 0 47 22 31.8841 RTEL1 0 genome.wustl.edu 37 20 62324311 62324311 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 62324311 62324311 G A SNP RTEL1 ENST00000318100 human ensembl 74_37 +1 known missense c.2806 p.G936S 0.000 NULL pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors RTEL1 HGNC ENSG00000258366 270 2 0.735294 274 54 16.4634 ZNF512B 0 genome.wustl.edu 37 20 62593712 62593712 + Missense_Mutation SNP G G C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 62593712 62593712 G C SNP ZNF512B ENST00000217130 human ensembl 74_37 -1 known missense c.2179 p.P727A 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF512B HGNC ENSG00000196700 126 0 0 111 36 24.4898 MYT1 0 genome.wustl.edu 37 20 62848432 62848432 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 62848432 62848432 C T SNP MYT1 ENST00000536311 human ensembl 74_37 +1 known silent c.1644 p.F548 0.869 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 163 0 0 121 72 37.3057 ADAMTS5 0 genome.wustl.edu 37 21 28302347 28302347 + Missense_Mutation SNP T T G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 21 28302347 28302347 T G SNP ADAMTS5 ENST00000284987 human ensembl 74_37 -1 known missense c.2083 p.N695H 1.000 prints_Peptidase_M12B_ADAM-TS 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_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ENSG00000154736 246 0 0 185 52 21.9409 KRTAP27-1 0 genome.wustl.edu 37 21 31709603 31709603 + Silent SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 21 31709603 31709603 G T SNP KRTAP27-1 ENST00000382835 human ensembl 74_37 -1 known silent c.384 p.A128 0.002 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP27-1 HGNC ENSG00000206107 299 0 0 211 64 23.2727 KRTAP13-4 0 genome.wustl.edu 37 21 31802630 31802630 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 21 31802630 31802630 C T SNP KRTAP13-4 ENST00000334068 human ensembl 74_37 +1 known missense c.37 p.R13C 0.083 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP13-4 HGNC ENSG00000186971 153 0 0 130 29 18.239 KRTAP20-2 0 genome.wustl.edu 37 21 32007651 32007651 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 21 32007651 32007651 C T SNP KRTAP20-2 ENST00000330798 human ensembl 74_37 +1 known silent c.69 p.G23 0.002 pfam_KRTAP_type6/8/16/19/20 pfam_KRTAP_type6/8/16/19/20 - no_errors KRTAP20-2 HGNC ENSG00000184032 153 0 0 91 38 29.4574 OLIG1 0 genome.wustl.edu 37 21 34443010 34443010 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 21 34443010 34443010 C T SNP OLIG1 ENST00000382348 human ensembl 74_37 +1 known missense c.458 p.T153M 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors OLIG1 HGNC ENSG00000184221 18 0 0 10 4 28.5714 SON 0 genome.wustl.edu 37 21 34931600 34931600 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 21 34931600 34931600 C T SNP SON ENST00000356577 human ensembl 74_37 +1 known missense c.6386 p.S2129L 1.000 NULL pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_dsRNA-bd_dom - no_errors SON HGNC ENSG00000159140 160 0 0 74 77 50.9934 ITSN1 0 genome.wustl.edu 37 21 35147078 35147078 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 21 35147078 35147078 C T SNP ITSN1 ENST00000381285 human ensembl 74_37 +1 known missense c.1351 p.R451W 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,superfamily_P-loop_NTPase,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN1 HGNC ENSG00000205726 86 0 0 60 16 21.0526 DOPEY2 0 genome.wustl.edu 37 21 37571375 37571375 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 21 37571375 37571375 A G SNP DOPEY2 ENST00000399151 human ensembl 74_37 +1 known missense c.146 p.Q49R 1.000 pfam_Dopey_N pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 86 0 0 40 36 47.3684 BRWD1 0 genome.wustl.edu 37 21 40636521 40636521 + Missense_Mutation SNP G G C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 21 40636521 40636521 G C SNP BRWD1 ENST00000333229 human ensembl 74_37 -1 known missense c.1750 p.P584A 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC ENSG00000185658 79 0 0 39 29 42.6471 DSCAM 0 genome.wustl.edu 37 21 41457607 41457607 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 21 41457607 41457607 C T SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known missense c.4054 p.E1352K 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_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 127 0 0 101 28 21.7054 FAM3B 0 genome.wustl.edu 37 21 42694901 42694901 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 21 42694901 42694901 C T SNP FAM3B ENST00000357985 human ensembl 74_37 +1 known missense c.71 p.S24L 0.002 NULL NULL - no_errors FAM3B HGNC ENSG00000183844 117 0 0 65 54 45.3782 C2CD2 0 genome.wustl.edu 37 21 43338273 43338273 + Missense_Mutation SNP C C G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 21 43338273 43338273 C G SNP C2CD2 ENST00000380486 human ensembl 74_37 -1 known missense c.661 p.G221R 0.000 NULL pfam_C2_dom,superfamily_C2_dom - no_errors C2CD2 HGNC ENSG00000157617 65 0 0 57 20 25.974 ZBTB21 0 genome.wustl.edu 37 21 43412172 43412172 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 21 43412172 43412172 G A SNP ZBTB21 ENST00000310826 human ensembl 74_37 -1 known missense c.2033 p.A678V 0.992 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB21 HGNC ENSG00000173276 197 0 0 170 45 20.9302 ABCG1 0 genome.wustl.edu 37 21 43714712 43714712 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 21 43714712 43714712 G A SNP ABCG1 ENST00000398437 human ensembl 74_37 +1 known missense c.2188 p.V730I 1.000 pfam_ABC_2_trans,tigrfam_Pigment_permease pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease - no_errors ABCG1 HGNC ENSG00000160179 95 0 0 37 33 47.1429 TMPRSS3 0 genome.wustl.edu 37 21 43815560 43815560 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 21 43815560 43815560 C T SNP TMPRSS3 ENST00000380399 human ensembl 74_37 -1 known silent c.219 p.A73 0.968 NULL pfam_Peptidase_S1,pfam_SRCR,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_LDrepeatLR_classA_rpt,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS3 HGNC ENSG00000160183 47 0 0 24 8 25 RRP1 0 genome.wustl.edu 37 21 45217944 45217944 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 21 45217944 45217944 C T SNP RRP1 ENST00000497547 human ensembl 74_37 +1 known silent c.774 p.D258 0.000 NULL pfam_Nop52 - no_errors RRP1 HGNC ENSG00000160214 28 0 0 35 9 20.4545 PWP2 0 genome.wustl.edu 37 21 45548015 45548015 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 21 45548015 45548015 G A SNP PWP2 ENST00000291576 human ensembl 74_37 +1 known silent c.2343 p.A781 0.000 pfam_SSU_processome_Utp12 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 59 0 0 31 33 51.5625 KRTAP10-5 0 genome.wustl.edu 37 21 45999796 45999796 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 21 45999796 45999796 G A SNP KRTAP10-5 ENST00000400372 human ensembl 74_37 -1 known silent c.660 p.S220 0.115 NULL NULL - no_errors KRTAP10-5 HGNC ENSG00000241123 174 0 0 151 42 21.7617 COL18A1 0 genome.wustl.edu 37 21 46875743 46875743 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 21 46875743 46875743 C T SNP COL18A1 ENST00000359759 human ensembl 74_37 +1 known missense c.299 p.P100L 0.000 pfam_DUF959_COL18_N pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 157 1 0.632911 100 37 27.0073 COL18A1 0 genome.wustl.edu 37 21 46875780 46875780 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 21 46875780 46875780 C T SNP COL18A1 ENST00000359759 human ensembl 74_37 +1 known silent c.336 p.A112 0.753 pfam_DUF959_COL18_N pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 119 0 0 91 30 24.7934 COL18A1 0 genome.wustl.edu 37 21 46924418 46924418 + Missense_Mutation SNP G G C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 21 46924418 46924418 G C SNP COL18A1 ENST00000359759 human ensembl 74_37 +1 known missense c.4061 p.G1354A 0.877 NULL pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 11 0 0 15 6 28.5714 COL6A1 0 genome.wustl.edu 37 21 47422235 47422235 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 21 47422235 47422235 G A SNP COL6A1 ENST00000361866 human ensembl 74_37 +1 known missense c.2170 p.A724T 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A1 HGNC ENSG00000142156 20 0 0 6 4 40 MCM3AP 0 genome.wustl.edu 37 21 47693430 47693430 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 21 47693430 47693430 C T SNP MCM3AP ENST00000291688 human ensembl 74_37 -1 known missense c.2068 p.E690K 1.000 pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ENSG00000160294 59 0 0 42 10 19.2308 PCNT 0 genome.wustl.edu 37 21 47831963 47831963 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 21 47831963 47831963 G A SNP PCNT ENST00000359568 human ensembl 74_37 +1 known silent c.5976 p.P1992 0.000 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 41 0 0 32 10 23.8095 DIP2A 0 genome.wustl.edu 37 21 47957385 47957385 + Silent SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 21 47957385 47957385 C A SNP DIP2A ENST00000318711 human ensembl 74_37 +1 known silent c.1737 p.V579 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2A HGNC ENSG00000160305 116 0 0 88 22 20 CCT8L2 0 genome.wustl.edu 37 22 17072886 17072886 + Silent SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 22 17072886 17072886 G T SNP CCT8L2 ENST00000359963 human ensembl 74_37 -1 known silent c.555 p.A185 0.300 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1 - no_errors CCT8L2 HGNC ENSG00000198445 97 0 0 64 25 28.0899 MICAL3 0 genome.wustl.edu 37 22 18364065 18364065 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 22 18364065 18364065 C T SNP MICAL3 ENST00000429452 human ensembl 74_37 -1 known missense c.2246 p.R749Q 0.997 NULL pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC ENSG00000243156 105 0 0 61 19 23.75 LZTR1 0 genome.wustl.edu 37 22 21351028 21351028 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 22 21351028 21351028 C T SNP LZTR1 ENST00000215739 human ensembl 74_37 +1 known missense c.2263 p.R755W 1.000 superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors LZTR1 HGNC ENSG00000099949 30 0 0 9 10 52.6316 ENSG00000211683 0 genome.wustl.edu 37 22 23980961 23980961 + RNA SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 22 23980961 23980961 C T SNP ENSG00000211683 ENST00000390329 human ensembl 74_37 -1 known rna NULL NULL 0.251 - - - no_errors KB-1572G7.3 Clone_based_vega_gene ENSG00000211683 64 0 0 13 32 71.1111 CABIN1 0 genome.wustl.edu 37 22 24530314 24530314 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 22 24530314 24530314 T C SNP CABIN1 ENST00000263119 human ensembl 74_37 +1 known missense c.4678 p.W1560R 1.000 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 40 0 0 22 10 31.25 FAM211B 0 genome.wustl.edu 37 22 24982177 24982177 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 22 24982177 24982177 G A SNP FAM211B ENST00000318753 human ensembl 74_37 -1 known missense c.625 p.R209C 0.997 NULL NULL - no_errors FAM211B HGNC ENSG00000178026 167 0 0 64 74 53.6232 SGSM1 0 genome.wustl.edu 37 22 25264776 25264776 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 22 25264776 25264776 G A SNP SGSM1 ENST00000400359 human ensembl 74_37 +1 known silent c.1245 p.T415 0.064 NULL pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC ENSG00000167037 128 0 0 44 48 52.1739 SGSM1 0 genome.wustl.edu 37 22 25297852 25297852 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 22 25297852 25297852 T C SNP SGSM1 ENST00000400359 human ensembl 74_37 +1 known missense c.2828 p.V943A 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC ENSG00000167037 19 0 0 3 8 72.7273 LIF 0 genome.wustl.edu 37 22 30639980 30639980 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 22 30639980 30639980 G A SNP LIF ENST00000249075 human ensembl 74_37 -1 known missense c.269 p.P90L 0.998 pfam_Leukemia_IF/oncostatin,superfamily_4_helix_cytokine-like_core,smart_Leukemia_IF/oncostatin,prints_Leukemia_IF pfam_Leukemia_IF/oncostatin,superfamily_4_helix_cytokine-like_core,smart_Leukemia_IF/oncostatin,prints_Leukemia_IF - no_errors LIF HGNC ENSG00000128342 74 0 0 18 23 56.0976 PLA2G3 0 genome.wustl.edu 37 22 31534698 31534698 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 22 31534698 31534698 C T SNP PLA2G3 ENST00000215885 human ensembl 74_37 -1 known missense c.602 p.R201Q 1.000 pfam_PLipase_A2,superfamily_PLipase_A2_dom pfam_PLipase_A2,superfamily_PLipase_A2_dom - no_errors PLA2G3 HGNC ENSG00000100078 166 0 0 59 75 55.9701 LARGE 0 genome.wustl.edu 37 22 33712182 33712182 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 22 33712182 33712182 C T SNP LARGE ENST00000354992 human ensembl 74_37 -1 known missense c.1340 p.R447Q 1.000 NULL pfam_Glyco_trans_8 - no_errors LARGE HGNC ENSG00000133424 62 0 0 27 12 30.7692 POLR2F 0 genome.wustl.edu 37 22 38421669 38421669 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 22 38421669 38421669 G A SNP POLR2F ENST00000405557 human ensembl 74_37 +1 putative missense c.377 p.R126H 0.000 NULL pfam_Pol_omega/K/RPB6,superfamily_Pol_omega/K/RPB6 - no_errors POLR2F HGNC ENSG00000100142 26 0 0 6 10 62.5 CSNK1E 0 genome.wustl.edu 37 22 38690489 38690489 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 22 38690489 38690489 G A SNP CSNK1E ENST00000359867 human ensembl 74_37 -1 known missense c.937 p.R313C 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 CSNK1E HGNC ENSG00000213923 8 0 0 1 4 80 SUN2 0 genome.wustl.edu 37 22 39146907 39146907 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 22 39146907 39146907 G A SNP SUN2 ENST00000216064 human ensembl 74_37 -1 known silent c.420 p.Y140 0.000 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUN2 HGNC ENSG00000100242 51 0 0 11 34 75.5556 APOBEC3B 0 genome.wustl.edu 37 22 39388141 39388141 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 22 39388141 39388141 G A SNP APOBEC3B ENST00000333467 human ensembl 74_37 +1 known missense c.1121 p.R374Q 0.001 NULL pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3B HGNC ENSG00000179750 39 0 0 17 19 52.7778 ATF4 0 genome.wustl.edu 37 22 39918438 39918438 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 22 39918438 39918438 G A SNP ATF4 ENST00000337304 human ensembl 74_37 +1 known missense c.887 p.R296H 1.000 pfam_bZIP,smart_bZIP,pfscan_bZIP pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors ATF4 HGNC ENSG00000128272 22 0 0 13 13 50 EP300 0 genome.wustl.edu 37 22 41551082 41551082 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 22 41551082 41551082 C T SNP EP300 ENST00000263253 human ensembl 74_37 +1 known missense c.3226 p.R1076C 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain 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 481 1 0.207469 129 220 63.0372 ZC3H7B 0 genome.wustl.edu 37 22 41721836 41721836 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 22 41721836 41721836 G A SNP ZC3H7B ENST00000351589 human ensembl 74_37 +1 known missense c.199 p.D67N 0.992 NULL pfam_Znf_CCCH,pfam_TPR_1,smart_TPR_repeat,smart_Znf_CCCH,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ZC3H7B HGNC ENSG00000100403 18 0 0 9 6 40 ACO2 0 genome.wustl.edu 37 22 41911943 41911943 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 22 41911943 41911943 C T SNP ACO2 ENST00000396512 human ensembl 74_37 +1 novel missense c.857 p.T286M 0.000 superfamily_Acoase/IPM_deHydtase_lsu_aba pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba - no_errors ACO2 HGNC ENSG00000100412 20 0 0 4 4 50 PRR5 0 genome.wustl.edu 37 22 45132994 45132994 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 22 45132994 45132994 C T SNP PRR5 ENST00000336985 human ensembl 74_37 +1 known missense c.1034 p.P345L 1.000 NULL pfam_HbrB - no_errors PRR5 HGNC ENSG00000186654 69 0 0 20 27 57.4468 CELSR1 0 genome.wustl.edu 37 22 46835250 46835250 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 22 46835250 46835250 G A SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known silent c.4242 p.N1414 1.000 pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 80 0 0 29 55 65.4762 CELSR1 0 genome.wustl.edu 37 22 46860057 46860057 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 22 46860057 46860057 C T SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known missense c.3730 p.V1244I 1.000 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 73 0 0 15 26 63.4146 PLXNB2 0 genome.wustl.edu 37 22 50717119 50717119 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 22 50717119 50717119 C T SNP PLXNB2 ENST00000359337 human ensembl 74_37 -1 known missense c.4553 p.R1518H 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot 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 18 0 0 5 6 54.5455 PLXNB2 0 genome.wustl.edu 37 22 50720108 50720108 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 22 50720108 50720108 A G SNP PLXNB2 ENST00000359337 human ensembl 74_37 -1 known missense c.3409 p.C1137R 0.998 NULL 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 38 0 0 35 9 20.4545 PPP6R2 0 genome.wustl.edu 37 22 50877078 50877078 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 22 50877078 50877078 G A SNP PPP6R2 ENST00000216061 human ensembl 74_37 +1 known missense c.2015 p.R672H 0.000 NULL pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R2 HGNC ENSG00000100239 91 0 0 25 29 53.7037 CPT1B 0 genome.wustl.edu 37 22 51014750 51014750 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 22 51014750 51014750 C T SNP CPT1B ENST00000312108 human ensembl 74_37 -1 known silent c.576 p.V192 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT1B HGNC ENSG00000205560 131 0 0 65 27 29.3478 ATP2B2 0 genome.wustl.edu 37 3 10413525 10413525 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 10413525 10413525 C T SNP ATP2B2 ENST00000352432 human ensembl 74_37 -1 known missense c.1627 p.A543T 0.952 superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_plasma 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 92 0 0 64 19 22.8916 SLC6A11 0 genome.wustl.edu 37 3 10979960 10979960 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 10979960 10979960 A G SNP SLC6A11 ENST00000254488 human ensembl 74_37 +1 known missense c.1771 p.S591G 1.000 NULL pfam_Na/ntran_symport,superfamily_S-AdoMet_deCO2ase_core,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT3 - no_errors SLC6A11 HGNC ENSG00000132164 105 0 0 54 51 48.5714 PHLDB2 0 genome.wustl.edu 37 3 111604216 111604216 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 111604216 111604216 G A SNP PHLDB2 ENST00000393925 human ensembl 74_37 +1 known missense c.1292 p.R431Q 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB2 HGNC ENSG00000144824 142 0 0 86 29 25.2174 BOC 0 genome.wustl.edu 37 3 112998786 112998786 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 112998786 112998786 C T SNP BOC ENST00000273395 human ensembl 74_37 +1 known silent c.2139 p.P713 0.002 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_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors BOC HGNC ENSG00000144857 84 0 0 75 28 27.1845 ATP6V1A 0 genome.wustl.edu 37 3 113513952 113513952 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 113513952 113513952 C T SNP ATP6V1A ENST00000273398 human ensembl 74_37 +1 known missense c.1127 p.A376V 1.000 pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,superfamily_P-loop_NTPase,tigrfam_ATPase_V1-cplx_asu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1_a/bsu_N,tigrfam_ATPase_V1-cplx_asu - no_errors ATP6V1A HGNC ENSG00000114573 108 0 0 66 15 18.5185 TMEM39A 0 genome.wustl.edu 37 3 119153616 119153616 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 119153616 119153616 C T SNP TMEM39A ENST00000319172 human ensembl 74_37 -1 known missense c.1226 p.R409H 1.000 pfam_Uncharacterised_TMEM39 pfam_Uncharacterised_TMEM39 - no_errors TMEM39A HGNC ENSG00000176142 148 0 0 115 31 21.2329 POGLUT1 0 genome.wustl.edu 37 3 119204224 119204224 + Nonsense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 119204224 119204224 C T SNP POGLUT1 ENST00000295588 human ensembl 74_37 +1 known nonsense c.628 p.R210* 1.000 pfam_LipoPS_modifying,smart_LipoPS_modifying pfam_LipoPS_modifying,smart_LipoPS_modifying - no_errors POGLUT1 HGNC ENSG00000163389 80 0 0 38 26 40.625 CD80 0 genome.wustl.edu 37 3 119263442 119263442 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 119263442 119263442 C T SNP CD80 ENST00000264246 human ensembl 74_37 -1 known missense c.373 p.A125T 0.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD80 HGNC ENSG00000121594 133 0 0 57 52 47.7064 POLQ 0 genome.wustl.edu 37 3 121256027 121256027 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 121256027 121256027 C T SNP POLQ ENST00000264233 human ensembl 74_37 -1 known missense c.660 p.M220I 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 109 0 0 79 13 14.1304 PDIA5 0 genome.wustl.edu 37 3 122873884 122873884 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 122873884 122873884 G A SNP PDIA5 ENST00000316218 human ensembl 74_37 +1 known missense c.1340 p.R447Q 0.996 pfam_Thioredoxin_domain,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,prints_Thioredoxin - no_errors PDIA5 HGNC ENSG00000065485 152 0 0 101 28 21.7054 ADCY5 0 genome.wustl.edu 37 3 123022985 123022985 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 123022985 123022985 A G SNP ADCY5 ENST00000462833 human ensembl 74_37 -1 known missense c.2488 p.S830P 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 ADCY5 HGNC ENSG00000173175 47 0 0 45 15 25 MYLK 0 genome.wustl.edu 37 3 123359271 123359271 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 123359271 123359271 C T SNP MYLK ENST00000360304 human ensembl 74_37 -1 known missense c.4700 p.R1567Q 0.003 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_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,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 MYLK HGNC ENSG00000065534 142 0 0 117 30 20.4082 ZNF148 0 genome.wustl.edu 37 3 125032418 125032418 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 125032418 125032418 A G SNP ZNF148 ENST00000360647 human ensembl 74_37 -1 known missense c.67 p.S23P 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF148 HGNC ENSG00000163848 195 1 0.510204 123 37 23.125 KLF15 0 genome.wustl.edu 37 3 126071431 126071431 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 126071431 126071431 G A SNP KLF15 ENST00000296233 human ensembl 74_37 -1 known missense c.335 p.A112V 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF15 HGNC ENSG00000163884 52 0 0 24 6 20 PLXNA1 0 genome.wustl.edu 37 3 126708091 126708091 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 126708091 126708091 G A SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known missense c.655 p.V219M 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 PLXNA1 HGNC ENSG00000114554 107 0 0 57 44 43.5644 PLXNA1 0 genome.wustl.edu 37 3 126748890 126748890 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 126748890 126748890 C T SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known missense c.5044 p.R1682W 0.979 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA1 HGNC ENSG00000114554 104 0 0 87 29 25 SEC61A1 0 genome.wustl.edu 37 3 127778967 127778967 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 127778967 127778967 C T SNP SEC61A1 ENST00000243253 human ensembl 74_37 +1 known silent c.375 p.I125 0.949 pfam_SecY/SEC61-alpha,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha pfam_SecY/SEC61-alpha,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha - no_errors SEC61A1 HGNC ENSG00000058262 158 0 0 86 68 44.1558 ASTE1 0 genome.wustl.edu 37 3 130735111 130735111 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 130735111 130735111 C T SNP ASTE1 ENST00000264992 human ensembl 74_37 -1 known missense c.1586 p.R529Q 0.000 NULL pfam_XPG_DNA_repair_N - no_errors ASTE1 HGNC ENSG00000034533 154 0 0 124 31 20 NUDT16 0 genome.wustl.edu 37 3 131102022 131102022 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 131102022 131102022 G A SNP NUDT16 ENST00000521288 human ensembl 74_37 +1 known missense c.425 p.R142Q 1.000 superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT16 HGNC ENSG00000198585 116 0 0 53 56 51.3761 C3orf36 0 genome.wustl.edu 37 3 133647492 133647492 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 133647492 133647492 C T SNP C3orf36 ENST00000408895 human ensembl 74_37 -1 known silent c.156 p.T52 0.004 NULL NULL - no_errors C3orf36 HGNC ENSG00000221972 58 0 0 35 20 36.3636 CNTN6 0 genome.wustl.edu 37 3 1339643 1339643 + Silent SNP A A C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 1339643 1339643 A C SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known silent c.729 p.S243 0.996 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN6 HGNC ENSG00000134115 142 0 0 79 15 15.9574 A4GNT 0 genome.wustl.edu 37 3 137843624 137843624 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 137843624 137843624 C T SNP A4GNT ENST00000236709 human ensembl 74_37 -1 known missense c.505 p.D169N 0.977 pfam_GlycoTrfase_DXD_sugar-bd_CS pfam_A1-4-GlycosylTfrase_dom,pfam_GlycoTrfase_DXD_sugar-bd_CS - no_errors A4GNT HGNC ENSG00000118017 115 0 0 85 35 29.1667 NME9 0 genome.wustl.edu 37 3 138024846 138024846 + Missense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 138024846 138024846 C A SNP NME9 ENST00000333911 human ensembl 74_37 -1 known missense c.636 p.E212D 1.000 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase - no_errors NME9 HGNC ENSG00000181322 142 0 0 101 25 19.8413 CEP70 0 genome.wustl.edu 37 3 138244336 138244336 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 138244336 138244336 C T SNP CEP70 ENST00000264982 human ensembl 74_37 -1 known missense c.940 p.V314I 0.508 NULL pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CEP70 HGNC ENSG00000114107 97 0 0 73 21 22.3404 CLSTN2 0 genome.wustl.edu 37 3 140277617 140277617 + Silent SNP C C G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 140277617 140277617 C G SNP CLSTN2 ENST00000458420 human ensembl 74_37 +1 known silent c.1959 p.A653 0.066 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC ENSG00000158258 64 0 0 36 41 53.2468 ACPL2 0 genome.wustl.edu 37 3 140997262 140997262 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 140997262 140997262 C T SNP ACPL2 ENST00000286353 human ensembl 74_37 +1 known missense c.158 p.T53M 0.985 NULL pfam_His_Pase_superF_clade-2 - no_errors ACPL2 HGNC ENSG00000155893 140 0 0 89 35 28.2258 GRK7 0 genome.wustl.edu 37 3 141497514 141497514 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 141497514 141497514 G A SNP GRK7 ENST00000264952 human ensembl 74_37 +1 known missense c.388 p.V130M 0.001 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK7 HGNC ENSG00000114124 47 0 0 40 11 21.5686 GRK7 0 genome.wustl.edu 37 3 141499493 141499493 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 141499493 141499493 C T SNP GRK7 ENST00000264952 human ensembl 74_37 +1 known missense c.890 p.S297L 0.287 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_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK7 HGNC ENSG00000114124 63 0 0 43 22 33.8462 GRK7 0 genome.wustl.edu 37 3 141499584 141499584 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 141499584 141499584 C T SNP GRK7 ENST00000264952 human ensembl 74_37 +1 known silent c.981 p.L327 0.000 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_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK7 HGNC ENSG00000114124 51 0 0 35 18 33.9623 TMEM43 0 genome.wustl.edu 37 3 14183166 14183166 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 14183166 14183166 G A SNP TMEM43 ENST00000306077 human ensembl 74_37 +1 known silent c.1074 p.S358 0.002 pfam_TMEM43_fam pfam_TMEM43_fam - no_errors TMEM43 HGNC ENSG00000170876 95 0 0 53 51 49.0385 U2SURP 0 genome.wustl.edu 37 3 142741404 142741404 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 142741404 142741404 G A SNP U2SURP ENST00000473835 human ensembl 74_37 +1 known missense c.918 p.M306I 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom 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 104 0 0 58 39 40.2062 GRIP2 0 genome.wustl.edu 37 3 14552950 14552950 + RNA SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 14552950 14552950 G A SNP GRIP2 ENST00000273083 human ensembl 74_37 -1 known rna NULL NULL 0.335 - - - no_errors GRIP2 HGNC ENSG00000144596 42 0 0 39 10 20.4082 DHX36 0 genome.wustl.edu 37 3 154017706 154017706 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 154017706 154017706 C T SNP DHX36 ENST00000496811 human ensembl 74_37 -1 known silent c.1470 p.A490 0.954 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX36 HGNC ENSG00000174953 74 0 0 69 14 16.8675 VEPH1 0 genome.wustl.edu 37 3 157004348 157004348 + Missense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 157004348 157004348 G T SNP VEPH1 ENST00000362010 human ensembl 74_37 -1 known missense c.2126 p.T709N 1.000 NULL pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors VEPH1 HGNC ENSG00000197415 355 0 0 165 134 44.8161 VEPH1 0 genome.wustl.edu 37 3 157213196 157213196 + RNA SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 157213196 157213196 T C SNP VEPH1 ENST00000483440 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors VEPH1 HGNC ENSG00000197415 125 0 0 62 58 48.3333 SERPINI1 0 genome.wustl.edu 37 3 167542311 167542311 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 167542311 167542311 G A SNP SERPINI1 ENST00000295777 human ensembl 74_37 +1 known missense c.1117 p.D373N 0.997 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINI1 HGNC ENSG00000163536 141 0 0 82 23 21.9048 MECOM 0 genome.wustl.edu 37 3 168833509 168833509 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 168833509 168833509 C T SNP MECOM ENST00000494292 human ensembl 74_37 -1 known silent c.2151 p.S717 1.000 NULL 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 142 0 0 91 23 20.1754 SKIL 0 genome.wustl.edu 37 3 170102361 170102361 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 170102361 170102361 G A SNP SKIL ENST00000259119 human ensembl 74_37 +1 known missense c.1237 p.V413M 1.000 NULL pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put - no_errors SKIL HGNC ENSG00000136603 182 0 0 120 46 27.7108 TNIK 0 genome.wustl.edu 37 3 170784473 170784473 + Nonsense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 170784473 170784473 C A SNP TNIK ENST00000436636 human ensembl 74_37 -1 known nonsense c.3751 p.G1251* 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 47 0 0 26 7 21.2121 ECT2 0 genome.wustl.edu 37 3 172520688 172520688 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 172520688 172520688 G A SNP ECT2 ENST00000427830 human ensembl 74_37 +1 known missense c.1931 p.R644Q 1.000 NULL pfam_DH-domain,pfam_BRCT_dom,superfamily_DH-domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DH-domain,pfscan_BRCT_dom,pfscan_DH-domain - no_errors ECT2 HGNC ENSG00000114346 66 0 0 43 13 23.2143 SPATA16 0 genome.wustl.edu 37 3 172631534 172631534 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 172631534 172631534 G A SNP SPATA16 ENST00000351008 human ensembl 74_37 -1 known silent c.1504 p.L502 1.000 NULL NULL - no_errors SPATA16 HGNC ENSG00000144962 56 0 0 48 17 26.1538 ZMAT3 0 genome.wustl.edu 37 3 178785523 178785523 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 178785523 178785523 G A SNP ZMAT3 ENST00000311417 human ensembl 74_37 -1 known silent c.18 p.H6 0.369 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT3 HGNC ENSG00000172667 200 0 0 133 106 44.3515 PEX5L 0 genome.wustl.edu 37 3 179525581 179525581 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 179525581 179525581 C T SNP PEX5L ENST00000467460 human ensembl 74_37 -1 known silent c.1557 p.A519 0.272 pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5L HGNC ENSG00000114757 208 0 0 170 46 21.2963 ABCC5 0 genome.wustl.edu 37 3 183667837 183667837 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 183667837 183667837 G A SNP ABCC5 ENST00000334444 human ensembl 74_37 -1 known silent c.3021 p.I1007 0.898 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 34 0 0 20 21 51.2195 DVL3 0 genome.wustl.edu 37 3 183888411 183888411 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 183888411 183888411 C T SNP DVL3 ENST00000313143 human ensembl 74_37 +1 known silent c.2019 p.P673 0.057 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 25 0 0 14 16 53.3333 AP2M1 0 genome.wustl.edu 37 3 183898692 183898692 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 183898692 183898692 G A SNP AP2M1 ENST00000292807 human ensembl 74_37 +1 known missense c.485 p.R162Q 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,prints_Clathrin_mu 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 AP2M1 HGNC ENSG00000161203 211 0 0 116 132 53.2258 EIF4G1 0 genome.wustl.edu 37 3 184042671 184042671 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 184042671 184042671 G A SNP EIF4G1 ENST00000352767 human ensembl 74_37 +1 known silent c.2646 p.E882 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G1 HGNC ENSG00000114867 154 1 0.645161 125 32 20.3822 ATP13A5 0 genome.wustl.edu 37 3 193023408 193023408 + Missense_Mutation SNP G G C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 193023408 193023408 G C SNP ATP13A5 ENST00000342358 human ensembl 74_37 -1 known missense c.2618 p.S873C 0.998 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A5 HGNC ENSG00000187527 131 0 0 80 48 37.5 KCNH8 0 genome.wustl.edu 37 3 19322736 19322736 + Missense_Mutation SNP A A C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 19322736 19322736 A C SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known missense c.357 p.E119D 1.000 pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_PAS,smart_PAC,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_EAG,tigrfam_PAS 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 119 0 0 71 19 21.1111 TNK2 0 genome.wustl.edu 37 3 195595367 195595367 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 195595367 195595367 G A SNP TNK2 ENST00000381916 human ensembl 74_37 -1 known missense c.1991 p.A664V 0.962 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors TNK2 HGNC ENSG00000061938 14 0 0 5 7 58.3333 PCYT1A 0 genome.wustl.edu 37 3 195974305 195974305 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 195974305 195974305 C T SNP PCYT1A ENST00000292823 human ensembl 74_37 -1 known missense c.419 p.R140H 1.000 pfam_Cyt_trans-like,tigrfam_Cyt_trans-like pfam_Cyt_trans-like,superfamily_NA-bd_OB-fold,tigrfam_Cyt_trans-like - no_errors PCYT1A HGNC ENSG00000161217 163 0 0 90 77 46.1078 PCYT1A 0 genome.wustl.edu 37 3 195997296 195997296 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 195997296 195997296 C T SNP PCYT1A ENST00000292823 human ensembl 74_37 -1 known missense c.107 p.R36H 1.000 NULL pfam_Cyt_trans-like,superfamily_NA-bd_OB-fold,tigrfam_Cyt_trans-like - no_errors PCYT1A HGNC ENSG00000161217 408 0 0 193 194 50.1292 NRROS 0 genome.wustl.edu 37 3 196387174 196387174 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 196387174 196387174 C T SNP NRROS ENST00000328557 human ensembl 74_37 +1 known silent c.660 p.I220 0.556 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors NRROS HGNC ENSG00000174004 82 0 0 46 15 24.5902 PIGX 0 genome.wustl.edu 37 3 196449408 196449408 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 196449408 196449408 G A SNP PIGX ENST00000296333 human ensembl 74_37 +1 known missense c.299 p.R100Q 0.655 pfam_PIG-X/PBN1,smart_PIG-X/PBN1 pfam_PIG-X/PBN1,smart_PIG-X/PBN1 - no_errors PIGX HGNC ENSG00000163964 308 0 0 177 138 43.8095 CNTN4 0 genome.wustl.edu 37 3 3078938 3078938 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 3078938 3078938 G A SNP CNTN4 ENST00000397461 human ensembl 74_37 +1 known missense c.2018 p.R673H 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 362 0 0 306 79 20.5195 OSBPL10 0 genome.wustl.edu 37 3 31871582 31871582 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 31871582 31871582 C T SNP OSBPL10 ENST00000396556 human ensembl 74_37 -1 known missense c.679 p.A227T 0.998 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL10 HGNC ENSG00000144645 61 0 0 50 17 25.3731 GLB1 0 genome.wustl.edu 37 3 33038803 33038803 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 33038803 33038803 G A SNP GLB1 ENST00000445488 human ensembl 74_37 -1 known missense c.1912 p.R638C 1.000 superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 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 53 0 0 26 20 43.4783 CHL1 0 genome.wustl.edu 37 3 369870 369870 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 369870 369870 G A SNP CHL1 ENST00000256509 human ensembl 74_37 +1 known missense c.218 p.G73D 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CHL1 HGNC ENSG00000134121 202 0 0 87 67 43.5065 OXSR1 0 genome.wustl.edu 37 3 38263141 38263141 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 38263141 38263141 G A SNP OXSR1 ENST00000311806 human ensembl 74_37 +1 known missense c.563 p.G188D 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_Kinase_OSR1/WNK_CCT,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 OXSR1 HGNC ENSG00000172939 145 0 0 146 24 14.1176 XIRP1 0 genome.wustl.edu 37 3 39230773 39230773 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 39230773 39230773 C T SNP XIRP1 ENST00000340369 human ensembl 74_37 -1 known missense c.164 p.R55H 1.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 50 0 0 34 16 32 CCR8 0 genome.wustl.edu 37 3 39374486 39374486 + Missense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 39374486 39374486 C A SNP CCR8 ENST00000326306 human ensembl 74_37 +1 known missense c.664 p.L222M 0.998 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Brdyknn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR8,prints_Chemokine_CXCR4,prints_Brdyknn_rcpt - no_errors CCR8 HGNC ENSG00000179934 123 0 0 50 51 50.495 KLHL40 0 genome.wustl.edu 37 3 42728197 42728197 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 42728197 42728197 G A SNP KLHL40 ENST00000287777 human ensembl 74_37 +1 known missense c.1087 p.V363M 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL40 HGNC ENSG00000157119 79 0 0 38 17 30.9091 HIGD1A 0 genome.wustl.edu 37 3 42835658 42835658 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 42835658 42835658 C T SNP HIGD1A ENST00000452906 human ensembl 74_37 -1 known missense c.130 p.V44I 1.000 pfam_Hypoxia_induced_domain pfam_Hypoxia_induced_domain - no_errors HIGD1A HGNC ENSG00000181061 59 0 0 27 22 44.898 KIF15 0 genome.wustl.edu 37 3 44856549 44856549 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 44856549 44856549 C T SNP KIF15 ENST00000326047 human ensembl 74_37 +1 known missense c.2530 p.L844F 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 KIF15 HGNC ENSG00000163808 91 0 0 61 15 19.7368 ZDHHC3 0 genome.wustl.edu 37 3 45000645 45000645 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 45000645 45000645 C T SNP ZDHHC3 ENST00000296127 human ensembl 74_37 -1 known missense c.284 p.C95Y 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC3 HGNC ENSG00000163812 166 0 0 91 45 33.0882 XCR1 0 genome.wustl.edu 37 3 46062638 46062638 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 46062638 46062638 C T SNP XCR1 ENST00000309285 human ensembl 74_37 -1 known missense c.802 p.A268T 0.271 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_XCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Brdyknn_rcpt - no_errors XCR1 HGNC ENSG00000173578 63 0 0 43 11 20.3704 ITPR1 0 genome.wustl.edu 37 3 4699938 4699938 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 4699938 4699938 G A SNP ITPR1 ENST00000302640 human ensembl 74_37 +1 known missense c.1082 p.R361H 0.998 pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif 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 72 0 0 38 29 43.2836 CSPG5 0 genome.wustl.edu 37 3 47604204 47604204 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 47604204 47604204 G A SNP CSPG5 ENST00000383738 human ensembl 74_37 -1 known silent c.1587 p.C529 1.000 pfam_Neural_ProG_Cyt pfam_Chon_Sulph_att,pfam_Neural_ProG_Cyt - no_errors CSPG5 HGNC ENSG00000114646 189 0 0 189 13 6.43564 CSPG5 0 genome.wustl.edu 37 3 47619349 47619349 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 47619349 47619349 G A SNP CSPG5 ENST00000383738 human ensembl 74_37 -1 known missense c.167 p.A56V 1.000 pfam_Chon_Sulph_att pfam_Chon_Sulph_att,pfam_Neural_ProG_Cyt - no_errors CSPG5 HGNC ENSG00000114646 43 0 0 21 25 54.3478 DHX30 0 genome.wustl.edu 37 3 47889959 47889959 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 47889959 47889959 G A SNP DHX30 ENST00000445061 human ensembl 74_37 +1 known missense c.2494 p.A832T 1.000 superfamily_P-loop_NTPase pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX30 HGNC ENSG00000132153 139 0 0 98 26 20.9677 ITPR1 0 genome.wustl.edu 37 3 4859858 4859858 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 4859858 4859858 G A SNP ITPR1 ENST00000302640 human ensembl 74_37 +1 known missense c.7915 p.V2639I 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,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 41 0 0 26 11 29.7297 COL7A1 0 genome.wustl.edu 37 3 48613861 48613861 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 48613861 48613861 C T SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known missense c.5744 p.R1915H 1.000 pfam_Collagen pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 35 0 0 48 12 20 COL7A1 0 genome.wustl.edu 37 3 48627984 48627984 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 48627984 48627984 C T SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known missense c.1814 p.R605Q 0.049 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 86 0 0 41 53 56.383 QARS 0 genome.wustl.edu 37 3 49137813 49137813 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 49137813 49137813 C T SNP QARS ENST00000306125 human ensembl 74_37 -1 known missense c.1055 p.R352K 1.000 pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,tigrfam_Gln-tRNA-synth pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_Gln-tRNA-synth_Ib_RNA-bd_N,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_Gln-tRNA-synth_Ib_RNA-bd_2,superfamily_Ribosomal_L25/Gln-tRNA_synth,prints_Glu/Gln-tRNA-synth,tigrfam_Gln-tRNA-synth - no_errors QARS HGNC ENSG00000172053 48 0 0 24 21 46.6667 LAMB2 0 genome.wustl.edu 37 3 49162453 49162453 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 49162453 49162453 C T SNP LAMB2 ENST00000305544 human ensembl 74_37 -1 known missense c.2870 p.R957Q 0.697 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin 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 115 0 0 93 22 19.1304 BSN 0 genome.wustl.edu 37 3 49689184 49689184 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 49689184 49689184 G A SNP BSN ENST00000296452 human ensembl 74_37 +1 known missense c.2195 p.R732Q 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 78 0 0 71 25 26.0417 BSN 0 genome.wustl.edu 37 3 49690800 49690800 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 49690800 49690800 C T SNP BSN ENST00000296452 human ensembl 74_37 +1 known missense c.3811 p.R1271W 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 82 0 0 60 16 21.0526 BSN 0 genome.wustl.edu 37 3 49700781 49700781 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 49700781 49700781 C T SNP BSN ENST00000296452 human ensembl 74_37 +1 known silent c.11190 p.S3730 0.008 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 115 0 0 99 28 22.0472 TRAIP 0 genome.wustl.edu 37 3 49881302 49881302 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 49881302 49881302 G A SNP TRAIP ENST00000331456 human ensembl 74_37 -1 known missense c.340 p.R114C 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING - no_errors TRAIP HGNC ENSG00000183763 181 0 0 141 44 23.7838 HYAL1 0 genome.wustl.edu 37 3 50339807 50339807 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 50339807 50339807 C T SNP HYAL1 ENST00000266031 human ensembl 74_37 -1 known missense c.581 p.R194H 0.998 pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors HYAL1 HGNC ENSG00000114378 74 0 0 34 33 49.2537 MAPKAPK3 0 genome.wustl.edu 37 3 50677912 50677912 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 50677912 50677912 G A SNP MAPKAPK3 ENST00000357955 human ensembl 74_37 +1 known missense c.335 p.R112H 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAPKAPK3 HGNC ENSG00000114738 262 0 0 222 59 20.9964 DOCK3 0 genome.wustl.edu 37 3 51263169 51263169 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 51263169 51263169 A G SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known missense c.1342 p.M448V 1.000 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 155 0 0 110 37 25.1701 DOCK3 0 genome.wustl.edu 37 3 51297728 51297728 + Nonsense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 51297728 51297728 C T SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known nonsense c.2326 p.R776* 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 40 0 0 15 15 50 RAD54L2 0 genome.wustl.edu 37 3 51672266 51672266 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 51672266 51672266 C T SNP RAD54L2 ENST00000409535 human ensembl 74_37 +1 known missense c.1789 p.R597C 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L2 HGNC ENSG00000164080 90 0 0 57 14 19.7183 GRM2 0 genome.wustl.edu 37 3 51743220 51743220 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 51743220 51743220 G A SNP GRM2 ENST00000395052 human ensembl 74_37 +1 known missense c.221 p.R74H 0.003 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B - no_errors GRM2 HGNC ENSG00000164082 164 0 0 87 61 41.2162 IQCF1 0 genome.wustl.edu 37 3 51929217 51929217 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 51929217 51929217 G A SNP IQCF1 ENST00000310914 human ensembl 74_37 -1 known missense c.307 p.R103W 0.761 superfamily_P-loop_NTPase pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCF1 HGNC ENSG00000173389 124 0 0 83 27 24.5455 NISCH 0 genome.wustl.edu 37 3 52526377 52526377 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 52526377 52526377 G A SNP NISCH ENST00000345716 human ensembl 74_37 +1 known missense c.4394 p.R1465H 0.130 NULL pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors NISCH HGNC ENSG00000010322 355 1 0.280899 182 143 44 STAB1 0 genome.wustl.edu 37 3 52554531 52554531 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 52554531 52554531 G A SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known missense c.5615 p.R1872H 1.000 NULL pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 60 0 0 27 32 54.2373 PRKCD 0 genome.wustl.edu 37 3 53213676 53213676 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 53213676 53213676 C T SNP PRKCD ENST00000330452 human ensembl 74_37 +1 known missense c.199 p.R67C 1.000 superfamily_C2_dom,pirsf_Prot_kin_PKC_delta pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors PRKCD HGNC ENSG00000163932 21 0 0 15 6 28.5714 LRTM1 0 genome.wustl.edu 37 3 54952676 54952676 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 54952676 54952676 C T SNP LRTM1 ENST00000273286 human ensembl 74_37 -1 known missense c.848 p.R283H 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRTM1 HGNC ENSG00000144771 127 0 0 57 39 40.625 IL17RD 0 genome.wustl.edu 37 3 57132102 57132102 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 57132102 57132102 G A SNP IL17RD ENST00000296318 human ensembl 74_37 -1 known silent c.1629 p.Y543 0.954 NULL pfam_SEFIR,superfamily_TIR_dom - no_errors IL17RD HGNC ENSG00000144730 55 0 0 27 16 37.2093 PRICKLE2 0 genome.wustl.edu 37 3 64085079 64085079 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 64085079 64085079 C T SNP PRICKLE2 ENST00000295902 human ensembl 74_37 -1 known missense c.2183 p.R728H 1.000 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE2 HGNC ENSG00000163637 81 0 0 50 37 42.5287 ADAMTS9 0 genome.wustl.edu 37 3 64587682 64587682 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 64587682 64587682 C T SNP ADAMTS9 ENST00000498707 human ensembl 74_37 -1 known missense c.3955 p.A1319T 0.000 NULL pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS9 HGNC ENSG00000163638 90 0 0 38 39 50.6494 MAGI1 0 genome.wustl.edu 37 3 65342134 65342134 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 65342134 65342134 C T SNP MAGI1 ENST00000402939 human ensembl 74_37 -1 known silent c.4308 p.Q1436 0.008 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 244 0 0 184 57 23.6515 SUCLG2 0 genome.wustl.edu 37 3 67546341 67546341 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 67546341 67546341 C T SNP SUCLG2 ENST00000307227 human ensembl 74_37 -1 known missense c.943 p.A315T 1.000 pfam_CoA_ligase,superfamily_Succinyl-CoA_synth-like,tigrfam_Succ_CoA_synthase_bsu pfam_ATP-grasp_succ-CoA_synth-type,pfam_CoA_ligase,superfamily_Succinyl-CoA_synth-like,tigrfam_Succ_CoA_synthase_bsu - no_errors SUCLG2 HGNC ENSG00000172340 85 0 0 34 31 47.6923 SUCLG2 0 genome.wustl.edu 37 3 67559237 67559237 + Missense_Mutation SNP C C G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 67559237 67559237 C G SNP SUCLG2 ENST00000307227 human ensembl 74_37 -1 known missense c.751 p.G251R 1.000 tigrfam_Succ_CoA_synthase_bsu pfam_ATP-grasp_succ-CoA_synth-type,pfam_CoA_ligase,superfamily_Succinyl-CoA_synth-like,tigrfam_Succ_CoA_synthase_bsu - no_errors SUCLG2 HGNC ENSG00000172340 92 0 0 50 9 15.2542 PDZRN3 0 genome.wustl.edu 37 3 73433934 73433934 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 73433934 73433934 C T SNP PDZRN3 ENST00000263666 human ensembl 74_37 -1 known missense c.1783 p.A595T 0.306 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 91 0 0 44 24 35.2941 SETD5 0 genome.wustl.edu 37 3 9476546 9476546 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 9476546 9476546 G A SNP SETD5 ENST00000402198 human ensembl 74_37 +1 known missense c.368 p.R123Q 1.000 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SETD5 HGNC ENSG00000168137 30 0 0 25 6 19.3548 IL17RE 0 genome.wustl.edu 37 3 9952555 9952555 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 9952555 9952555 C T SNP IL17RE ENST00000421412 human ensembl 74_37 +1 known missense c.908 p.S303L 0.069 NULL pfam_SEFIR - no_errors IL17RE HGNC ENSG00000163701 32 0 0 23 7 23.3333 C4orf17 0 genome.wustl.edu 37 4 100463220 100463220 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 100463220 100463220 A G SNP C4orf17 ENST00000326581 human ensembl 74_37 +1 known missense c.1034 p.N345S 0.000 NULL NULL - no_errors C4orf17 HGNC ENSG00000138813 86 0 0 79 18 18.5567 WDR1 0 genome.wustl.edu 37 4 10084764 10084764 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 10084764 10084764 C T SNP WDR1 ENST00000382452 human ensembl 74_37 -1 known missense c.1078 p.A360T 0.980 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 WDR1 HGNC ENSG00000071127 22 0 0 23 7 23.3333 FGFRL1 0 genome.wustl.edu 37 4 1018336 1018336 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 1018336 1018336 A G SNP FGFRL1 ENST00000264748 human ensembl 74_37 +1 known missense c.956 p.Y319C 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 91 0 0 45 40 47.0588 PPP3CA 0 genome.wustl.edu 37 4 101947156 101947156 + Nonsense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 101947156 101947156 G A SNP PPP3CA ENST00000394854 human ensembl 74_37 -1 known nonsense c.1432 p.R478* 1.000 NULL pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP3CA HGNC ENSG00000138814 230 0 0 107 102 48.8038 RRH 0 genome.wustl.edu 37 4 110754440 110754440 + Silent SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 110754440 110754440 C A SNP RRH ENST00000317735 human ensembl 74_37 +1 known silent c.252 p.A84 0.990 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Peropsin pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Peropsin,prints_GPCR_Rhodpsn - no_errors RRH HGNC ENSG00000180245 66 0 0 32 7 17.9487 HS3ST1 0 genome.wustl.edu 37 4 11401091 11401091 + Missense_Mutation SNP C C G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 11401091 11401091 C G SNP HS3ST1 ENST00000002596 human ensembl 74_37 -1 known missense c.539 p.R180P 0.967 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST1 HGNC ENSG00000002587 74 0 0 47 18 27.6923 NDST4 0 genome.wustl.edu 37 4 115997706 115997706 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 115997706 115997706 C T SNP NDST4 ENST00000264363 human ensembl 74_37 -1 known missense c.487 p.G163S 1.000 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST4 HGNC ENSG00000138653 120 0 0 80 35 30.4348 PRSS12 0 genome.wustl.edu 37 4 119234410 119234410 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 119234410 119234410 C T SNP PRSS12 ENST00000296498 human ensembl 74_37 -1 known missense c.1435 p.E479K 0.998 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,pfam_Peptidase_S1,pfam_Kringle,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_Kringle-like,smart_Kringle,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Kringle,pfscan_SRCR,pfscan_Peptidase_S1,prints_SRCR,prints_Peptidase_S1A - no_errors PRSS12 HGNC ENSG00000164099 72 0 0 56 15 21.1268 TRPC3 0 genome.wustl.edu 37 4 122853805 122853805 + Missense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 122853805 122853805 C A SNP TRPC3 ENST00000379645 human ensembl 74_37 -1 known missense c.608 p.S203I 1.000 superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC ENSG00000138741 53 0 0 37 23 38.3333 FAT4 0 genome.wustl.edu 37 4 126239464 126239464 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 126239464 126239464 G A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.1898 p.R633H 0.953 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 108 0 0 65 17 20.7317 SLC25A31 0 genome.wustl.edu 37 4 128685410 128685410 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 128685410 128685410 T C SNP SLC25A31 ENST00000281154 human ensembl 74_37 +1 known missense c.373 p.F125L 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Aden_trnslctor pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor - no_errors SLC25A31 HGNC ENSG00000151475 81 0 0 60 20 25 HSPA4L 0 genome.wustl.edu 37 4 128726846 128726846 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 128726846 128726846 C T SNP HSPA4L ENST00000439123 human ensembl 74_37 +1 known missense c.1235 p.A412V 1.000 pfam_Hsp_70_fam,prints_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA4L HGNC ENSG00000164070 90 0 0 36 17 32.0755 UVSSA 0 genome.wustl.edu 37 4 1360198 1360198 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 1360198 1360198 G A SNP UVSSA ENST00000389851 human ensembl 74_37 +1 known missense c.1267 p.D423N 0.998 NULL pfam_DUF2043,superfamily_ENTH_VHS - no_errors UVSSA HGNC ENSG00000163945 223 0 0 154 47 23.3831 SLC7A11 0 genome.wustl.edu 37 4 139101903 139101903 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 139101903 139101903 G A SNP SLC7A11 ENST00000280612 human ensembl 74_37 -1 known silent c.1158 p.D386 1.000 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter pfam_AA-permease/SLC12A_dom,pfam_AA_transpt_TM,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter - no_errors SLC7A11 HGNC ENSG00000151012 46 0 0 29 8 21.6216 USP38 0 genome.wustl.edu 37 4 144134834 144134834 + Missense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 144134834 144134834 G T SNP USP38 ENST00000307017 human ensembl 74_37 +1 known missense c.1705 p.A569S 0.374 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP38 HGNC ENSG00000170185 92 0 0 67 23 25.5556 HHIP 0 genome.wustl.edu 37 4 145580917 145580917 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 145580917 145580917 T C SNP HHIP ENST00000296575 human ensembl 74_37 +1 known missense c.758 p.I253T 1.000 superfamily_Quinoprot_gluc/sorb_DH pfam_Folate_rcpt-like,superfamily_Quinoprot_gluc/sorb_DH,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HHIP HGNC ENSG00000164161 196 0 0 146 37 20.2186 ZNF827 0 genome.wustl.edu 37 4 146823705 146823705 + Nonsense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 146823705 146823705 G A SNP ZNF827 ENST00000508784 human ensembl 74_37 -1 known nonsense c.706 p.R236* 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF827 HGNC ENSG00000151612 88 0 0 28 35 55.5556 PRMT10 0 genome.wustl.edu 37 4 148594936 148594936 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 148594936 148594936 C T SNP PRMT10 ENST00000322396 human ensembl 74_37 -1 known missense c.428 p.R143H 1.000 NULL pfam_Ribosomal-L11_MeTrfase_PrmA,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRMT10 HGNC ENSG00000164169 110 0 0 53 46 46.4646 LRBA 0 genome.wustl.edu 37 4 151392889 151392889 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 151392889 151392889 C T SNP LRBA ENST00000357115 human ensembl 74_37 -1 known missense c.6587 p.R2196H 1.000 superfamily_BEACH_dom pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom - no_errors LRBA HGNC ENSG00000198589 73 0 0 51 11 17.7419 LRBA 0 genome.wustl.edu 37 4 151818931 151818931 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 151818931 151818931 C T SNP LRBA ENST00000357115 human ensembl 74_37 -1 known missense c.1964 p.R655Q 1.000 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 - no_errors LRBA HGNC ENSG00000198589 32 0 0 10 4 28.5714 PET112 0 genome.wustl.edu 37 4 152679925 152679925 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 152679925 152679925 G A SNP PET112 ENST00000263985 human ensembl 74_37 -1 known missense c.326 p.P109L 1.000 pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,tigrfam_Apn/Gln-ADT_bsu pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,pfam_Asn/Gln_amidotransferase,superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Asn/Gln_amidotransferase,tigrfam_Apn/Gln-ADT_bsu - no_errors PET112 HGNC ENSG00000059691 176 0 0 111 31 21.831 TRIM2 0 genome.wustl.edu 37 4 154236715 154236715 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 154236715 154236715 C T SNP TRIM2 ENST00000338700 human ensembl 74_37 +1 known missense c.1589 p.A530V 1.000 pfam_NHL_repeat,pfscan_NHL_repeat_subgr pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM2 HGNC ENSG00000109654 142 0 0 112 21 15.7895 KIAA0922 0 genome.wustl.edu 37 4 154519878 154519878 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 154519878 154519878 C T SNP KIAA0922 ENST00000409959 human ensembl 74_37 +1 known missense c.2260 p.R754C 0.983 NULL pfam_DUF3651_TMEM131 - no_errors KIAA0922 HGNC ENSG00000121210 80 0 0 46 8 14.8148 KIAA0922 0 genome.wustl.edu 37 4 154523755 154523755 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 154523755 154523755 G A SNP KIAA0922 ENST00000409959 human ensembl 74_37 +1 known missense c.2515 p.D839N 0.024 NULL pfam_DUF3651_TMEM131 - no_errors KIAA0922 HGNC ENSG00000121210 140 0 0 72 62 46.2687 CC2D2A 0 genome.wustl.edu 37 4 15477538 15477538 + Splice_Site SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 15477538 15477538 G A SNP CC2D2A ENST00000503292 human ensembl 74_37 +1 known splice_site c.1-1 e1-1 0.039 - - - no_errors CC2D2A HGNC ENSG00000048342 9 0 0 7 8 53.3333 GUCY1B3 0 genome.wustl.edu 37 4 156710921 156710921 + Missense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 156710921 156710921 C A SNP GUCY1B3 ENST00000264424 human ensembl 74_37 +1 known missense c.353 p.P118H 1.000 pfam_Heme_NO-bd,superfamily_NO_sig/Golgi_transp_ligand-bd pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1B3 HGNC ENSG00000061918 131 0 0 92 27 22.6891 PDGFC 0 genome.wustl.edu 37 4 157684302 157684302 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 157684302 157684302 G A SNP PDGFC ENST00000502773 human ensembl 74_37 -1 known silent c.978 p.D326 0.897 pfam_PDGF/VEGF_dom,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom pfam_CUB_dom,pfam_PDGF/VEGF_dom,superfamily_CUB_dom,smart_CUB_dom,smart_PDGF/VEGF_dom,pfscan_CUB_dom,pfscan_PDGF/VEGF_dom - no_errors PDGFC HGNC ENSG00000145431 117 0 0 87 23 20.9091 GRIA2 0 genome.wustl.edu 37 4 158284024 158284024 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 158284024 158284024 C T SNP GRIA2 ENST00000264426 human ensembl 74_37 +1 known missense c.2480 p.A827V 1.000 prints_NMDA_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA2 HGNC ENSG00000120251 95 0 0 70 26 27.0833 ETFDH 0 genome.wustl.edu 37 4 159624729 159624729 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 159624729 159624729 A G SNP ETFDH ENST00000511912 human ensembl 74_37 +1 known missense c.1271 p.Q424R 0.999 NULL pfam_ETFD_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Pyridine_nuc-diS_OxRdtase_2 - no_errors ETFDH HGNC ENSG00000171503 119 0 0 75 19 20.2128 FGFBP2 0 genome.wustl.edu 37 4 15964408 15964408 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 15964408 15964408 G A SNP FGFBP2 ENST00000259989 human ensembl 74_37 -1 known silent c.345 p.S115 0.004 pfam_FGF1-bd pfam_FGF1-bd - no_errors FGFBP2 HGNC ENSG00000137441 65 0 0 54 44 44.898 FAM53A 0 genome.wustl.edu 37 4 1643243 1643243 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 1643243 1643243 C T SNP FAM53A ENST00000308132 human ensembl 74_37 -1 known missense c.974 p.C325Y 0.793 NULL NULL - no_errors FAM53A HGNC ENSG00000174137 201 0 0 164 23 12.2995 ENPP6 0 genome.wustl.edu 37 4 185012492 185012492 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 185012492 185012492 G A SNP ENPP6 ENST00000296741 human ensembl 74_37 -1 known silent c.1161 p.D387 0.988 superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ENPP6 HGNC ENSG00000164303 136 0 0 82 55 40.146 ENPP6 0 genome.wustl.edu 37 4 185033921 185033921 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 185033921 185033921 G A SNP ENPP6 ENST00000296741 human ensembl 74_37 -1 known silent c.897 p.Y299 0.272 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ENPP6 HGNC ENSG00000164303 154 0 0 147 28 16 ANKRD37 0 genome.wustl.edu 37 4 186318335 186318335 + Missense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 186318335 186318335 G T SNP ANKRD37 ENST00000335174 human ensembl 74_37 +1 known missense c.59 p.G20V 0.849 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD37 HGNC ENSG00000186352 49 0 0 31 17 35.4167 ANKRD37 0 genome.wustl.edu 37 4 186318402 186318402 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 186318402 186318402 C T SNP ANKRD37 ENST00000335174 human ensembl 74_37 +1 known silent c.126 p.G42 0.244 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD37 HGNC ENSG00000186352 48 0 0 25 16 39.0244 SORBS2 0 genome.wustl.edu 37 4 186544615 186544615 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 186544615 186544615 G A SNP SORBS2 ENST00000284776 human ensembl 74_37 -1 known silent c.1956 p.H652 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC ENSG00000154556 147 0 0 104 34 24.6377 SORBS2 0 genome.wustl.edu 37 4 186545198 186545198 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 186545198 186545198 C T SNP SORBS2 ENST00000284776 human ensembl 74_37 -1 known missense c.1373 p.R458H 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC ENSG00000154556 108 0 0 107 36 25.1748 F11 0 genome.wustl.edu 37 4 187197457 187197457 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 187197457 187197457 C T SNP F11 ENST00000403665 human ensembl 74_37 +1 known missense c.668 p.A223V 0.000 pfam_PAN-1_domain,smart_Apple,pfscan_Pan_app,prints_Apple pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,smart_Apple,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Peptidase_S1,prints_Apple,prints_Peptidase_S1A - no_errors F11 HGNC ENSG00000088926 130 0 0 99 22 18.1818 FAT1 0 genome.wustl.edu 37 4 187531035 187531035 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 187531035 187531035 C T SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.9988 p.D3330N 1.000 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 36 0 0 36 13 26.5306 FAT1 0 genome.wustl.edu 37 4 187540073 187540073 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 187540073 187540073 C T SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.7667 p.R2556Q 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 85 0 0 44 11 20 FAT1 0 genome.wustl.edu 37 4 187627747 187627747 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 187627747 187627747 C T SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.3235 p.V1079I 0.964 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 237 0 0 120 78 39.3939 TRIML2 0 genome.wustl.edu 37 4 189020185 189020185 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 189020185 189020185 T C SNP TRIML2 ENST00000536972 human ensembl 74_37 -1 known missense c.625 p.R209G 0.998 NULL pfam_Znf_B-box,pfscan_Znf_B-box - no_errors TRIML2 HGNC ENSG00000179046 79 0 0 64 12 15.7895 WHSC1 0 genome.wustl.edu 37 4 1918627 1918627 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 1918627 1918627 G A SNP WHSC1 ENST00000382891 human ensembl 74_37 +1 known missense c.790 p.V264I 1.000 pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_box_dom - no_errors WHSC1 HGNC ENSG00000109685 100 0 0 48 52 52 WHSC1 0 genome.wustl.edu 37 4 1962801 1962801 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 1962801 1962801 G A SNP WHSC1 ENST00000382891 human ensembl 74_37 +1 known missense c.3295 p.E1099K 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_box_dom - no_errors WHSC1 HGNC ENSG00000109685 133 0 0 125 30 19.3548 SLIT2 0 genome.wustl.edu 37 4 20482349 20482349 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 20482349 20482349 T C SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known missense c.478 p.Y160H 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 155 0 0 114 42 26.9231 ZNF876P 0 genome.wustl.edu 37 4 206428 206428 + RNA SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 206428 206428 G A SNP ZNF876P ENST00000356347 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors ZNF876P HGNC ENSG00000198155 11 0 0 4 3 42.8571 GPR125 0 genome.wustl.edu 37 4 22389934 22389934 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 22389934 22389934 C T SNP GPR125 ENST00000334304 human ensembl 74_37 -1 known silent c.3360 p.A1120 0.729 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR125 HGNC ENSG00000152990 109 0 0 63 22 25.8824 HAUS3 0 genome.wustl.edu 37 4 2240485 2240485 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 2240485 2240485 G A SNP HAUS3 ENST00000243706 human ensembl 74_37 -1 known missense c.1195 p.R399W 0.652 NULL NULL - no_errors HAUS3 HGNC ENSG00000214367 106 0 0 67 15 18.2927 HTT 0 genome.wustl.edu 37 4 3137631 3137631 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 3137631 3137631 G A SNP HTT ENST00000355072 human ensembl 74_37 +1 known silent c.2634 p.R878 1.000 superfamily_ARM-type_fold pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 106 0 0 67 62 48.062 HTT 0 genome.wustl.edu 37 4 3142344 3142344 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 3142344 3142344 C T SNP HTT ENST00000355072 human ensembl 74_37 +1 known missense c.2906 p.T969M 0.990 superfamily_ARM-type_fold pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 75 0 0 35 33 48.5294 RGS12 0 genome.wustl.edu 37 4 3317958 3317958 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 3317958 3317958 C T SNP RGS12 ENST00000344733 human ensembl 74_37 +1 known missense c.61 p.R21W 0.012 superfamily_PDZ 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 188 0 0 139 40 22.3464 RGS12 0 genome.wustl.edu 37 4 3344688 3344688 + Nonsense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 3344688 3344688 G T SNP RGS12 ENST00000344733 human ensembl 74_37 +1 known nonsense c.1906 p.G636* 0.081 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 111 1 0.892857 89 23 20.5357 TLR1 0 genome.wustl.edu 37 4 38799468 38799468 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 38799468 38799468 T C SNP TLR1 ENST00000308979 human ensembl 74_37 -1 known missense c.985 p.K329E 0.011 pirsf_Toll-like_receptor pirsf_Toll-like_receptor,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 TLR1 HGNC ENSG00000174125 77 0 0 43 33 43.4211 RFC1 0 genome.wustl.edu 37 4 39306531 39306531 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 39306531 39306531 G A SNP RFC1 ENST00000381897 human ensembl 74_37 -1 known silent c.2016 p.Y672 0.998 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_P-loop_NTPase,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom - no_errors RFC1 HGNC ENSG00000035928 334 0 0 248 72 22.5 UCHL1 0 genome.wustl.edu 37 4 41266131 41266131 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 41266131 41266131 C T SNP UCHL1 ENST00000284440 human ensembl 74_37 +1 known missense c.538 p.P180S 1.000 pfam_Peptidase_C12,prints_Peptidase_C12 pfam_Peptidase_C12,prints_Peptidase_C12 - no_errors UCHL1 HGNC ENSG00000154277 163 0 0 67 51 43.2203 ATP8A1 0 genome.wustl.edu 37 4 42416687 42416687 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 42416687 42416687 G A SNP ATP8A1 ENST00000381668 human ensembl 74_37 -1 known silent c.3354 p.H1118 0.952 NULL pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8A1 HGNC ENSG00000124406 142 0 0 75 52 40.9449 GABRA2 0 genome.wustl.edu 37 4 46264100 46264100 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 46264100 46264100 C T SNP GABRA2 ENST00000540012 human ensembl 74_37 -1 known missense c.737 p.R246Q 1.000 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_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa2_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRA2 HGNC ENSG00000151834 124 0 0 78 28 26.4151 CNGA1 0 genome.wustl.edu 37 4 47938555 47938555 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 47938555 47938555 C T SNP CNGA1 ENST00000402813 human ensembl 74_37 -1 known silent c.2163 p.Q721 0.993 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA1 HGNC ENSG00000198515 193 0 0 156 39 20 PDGFRA 0 genome.wustl.edu 37 4 55127488 55127488 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 55127488 55127488 G A SNP PDGFRA ENST00000257290 human ensembl 74_37 +1 known silent c.276 p.A92 0.006 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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 361 0 0 285 92 24.4032 AASDH 0 genome.wustl.edu 37 4 57221419 57221419 + Silent SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 57221419 57221419 A G SNP AASDH ENST00000205214 human ensembl 74_37 -1 known silent c.1032 p.Y344 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like - no_errors AASDH HGNC ENSG00000157426 130 0 0 95 24 20.1681 SRP72 0 genome.wustl.edu 37 4 57340271 57340271 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 57340271 57340271 G A SNP SRP72 ENST00000342756 human ensembl 74_37 +1 known missense c.406 p.V136I 0.998 NULL pfam_Signal_recog_part_SRP72_RNA-bd,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SRP72 HGNC ENSG00000174780 82 0 0 72 17 19.1011 REST 0 genome.wustl.edu 37 4 57797032 57797032 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 57797032 57797032 G A SNP REST ENST00000309042 human ensembl 74_37 +1 known missense c.2008 p.V670M 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors REST HGNC ENSG00000084093 86 0 0 54 16 22.8571 NOA1 0 genome.wustl.edu 37 4 57829782 57829782 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 57829782 57829782 C T SNP NOA1 ENST00000264230 human ensembl 74_37 -1 known missense c.1931 p.R644Q 1.000 NULL superfamily_P-loop_NTPase - no_errors NOA1 HGNC ENSG00000084092 148 0 0 105 22 17.3228 YTHDC1 0 genome.wustl.edu 37 4 69179954 69179954 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 69179954 69179954 G A SNP YTHDC1 ENST00000344157 human ensembl 74_37 -1 known missense c.2047 p.R683W 0.997 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDC1 HGNC ENSG00000083896 46 0 0 21 19 47.5 YTHDC1 0 genome.wustl.edu 37 4 69180007 69180007 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 69180007 69180007 C T SNP YTHDC1 ENST00000344157 human ensembl 74_37 -1 known missense c.1994 p.R665H 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDC1 HGNC ENSG00000083896 55 0 0 24 17 41.4634 YTHDC1 0 genome.wustl.edu 37 4 69185922 69185922 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 69185922 69185922 G A SNP YTHDC1 ENST00000344157 human ensembl 74_37 -1 known missense c.1603 p.R535C 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDC1 HGNC ENSG00000083896 97 0 0 54 10 15.625 TBC1D14 0 genome.wustl.edu 37 4 6925152 6925152 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 6925152 6925152 C T SNP TBC1D14 ENST00000409757 human ensembl 74_37 +1 known silent c.36 p.G12 0.148 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D14 HGNC ENSG00000132405 171 0 0 87 47 35.0746 ADAMTS3 0 genome.wustl.edu 37 4 73414445 73414445 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 73414445 73414445 G A SNP ADAMTS3 ENST00000286657 human ensembl 74_37 -1 known missense c.254 p.T85M 1.000 pfam_Peptidase_M12B_N pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS3 HGNC ENSG00000156140 112 0 0 92 33 26.4 FAM175A 0 genome.wustl.edu 37 4 84403394 84403394 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 84403394 84403394 C T SNP FAM175A ENST00000321945 human ensembl 74_37 -1 known missense c.91 p.G31S 1.000 prints_FAM175 prints_FAM175_BRCA1-A_cplx_Abraxas_su,prints_FAM175,prints_FAM175_BRISC_cplx_Abro1_su - no_errors FAM175A HGNC ENSG00000163322 58 0 0 49 4 7.54717 NKX6-1 0 genome.wustl.edu 37 4 85416952 85416952 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 85416952 85416952 G A SNP NKX6-1 ENST00000295886 human ensembl 74_37 -1 known missense c.716 p.T239M 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_HTH_motif,prints_Homeobox_metazoa - no_errors NKX6-1 HGNC ENSG00000163623 129 0 0 78 21 21.2121 UNC5C 0 genome.wustl.edu 37 4 96469950 96469950 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 96469950 96469950 A G SNP UNC5C ENST00000453304 human ensembl 74_37 -1 known missense c.59 p.L20P 1.000 NULL pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5C HGNC ENSG00000182168 99 0 0 90 26 22.4138 MARCH6 0 genome.wustl.edu 37 5 10377927 10377927 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 10377927 10377927 C T SNP MARCH6 ENST00000274140 human ensembl 74_37 +1 known missense c.37 p.R13W 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH6 HGNC ENSG00000145495 87 0 0 74 25 25.2525 SLC12A7 0 genome.wustl.edu 37 5 1074767 1074767 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 1074767 1074767 C T SNP SLC12A7 ENST00000264930 human ensembl 74_37 -1 known missense c.1987 p.D663N 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 SLC12A7 HGNC ENSG00000113504 62 0 0 30 26 46.4286 CTNND2 0 genome.wustl.edu 37 5 11117589 11117589 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 11117589 11117589 C T SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known silent c.2250 p.A750 0.188 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 133 0 0 85 46 35.1145 TSSK1B 0 genome.wustl.edu 37 5 112769899 112769899 + Missense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 112769899 112769899 G T SNP TSSK1B ENST00000390666 human ensembl 74_37 -1 known missense c.638 p.S213Y 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TSSK1B HGNC ENSG00000212122 70 0 0 56 16 22.2222 AQPEP 0 genome.wustl.edu 37 5 115320327 115320327 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 115320327 115320327 C T SNP AQPEP ENST00000357872 human ensembl 74_37 +1 known missense c.899 p.T300M 1.000 pfam_Peptidase_M1_N,prints_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors AQPEP Uniprot_gn ENSG00000172901 56 0 0 37 8 17.7778 TERT 0 genome.wustl.edu 37 5 1268637 1268637 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 1268637 1268637 G A SNP TERT ENST00000296820 human ensembl 74_37 -1 known missense c.2398 p.R800W 0.947 pfscan_RVT pfam_Telomerase_RBD,smart_Telomerase_RBD,pfscan_RVT,prints_Telomerase_RT - no_errors TERT HGNC ENSG00000164362 38 0 0 25 12 32.4324 FBN2 0 genome.wustl.edu 37 5 127647028 127647028 + Missense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 127647028 127647028 C A SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known missense c.5038 p.G1680C 1.000 pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 56 0 0 32 35 52.2388 IL3 0 genome.wustl.edu 37 5 131396447 131396447 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 131396447 131396447 C T SNP IL3 ENST00000296870 human ensembl 74_37 +1 known silent c.48 p.P16 0.000 pirsf_IL-3 pfam_IL-3,superfamily_4_helix_cytokine-like_core,pirsf_IL-3,prints_IL-3 - no_errors IL3 HGNC ENSG00000164399 117 0 0 57 38 40 IL13 0 genome.wustl.edu 37 5 131993925 131993925 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 131993925 131993925 C T SNP IL13 ENST00000304506 human ensembl 74_37 +1 known missense c.47 p.A16V 0.992 pfam_IL-13,smart_IL-4/IL-13 pfam_IL-13,superfamily_4_helix_cytokine-like_core,smart_IL-4/IL-13,prints_IL-13 - no_errors IL13 HGNC ENSG00000169194 57 0 0 37 25 40.3226 TGFBI 0 genome.wustl.edu 37 5 135382999 135382999 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 135382999 135382999 G A SNP TGFBI ENST00000305126 human ensembl 74_37 +1 known missense c.661 p.D221N 0.998 pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors TGFBI HGNC ENSG00000120708 190 0 0 96 83 46.3687 TRPC7 0 genome.wustl.edu 37 5 135692997 135692997 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 135692997 135692997 G A SNP TRPC7 ENST00000513104 human ensembl 74_37 -1 known missense c.79 p.R27W 1.000 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC7 HGNC ENSG00000069018 109 0 0 66 55 45.4545 BRD8 0 genome.wustl.edu 37 5 137506848 137506848 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 137506848 137506848 G A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.238 p.R80W 1.000 superfamily_Peptidase_M20_dimer pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 156 0 0 99 24 19.5122 DNAH5 0 genome.wustl.edu 37 5 13792325 13792325 + Silent SNP A A T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 13792325 13792325 A T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known silent c.8226 p.G2742 1.000 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,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 56 0 0 55 4 6.77966 PCDHA6 0 genome.wustl.edu 37 5 140209019 140209019 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 140209019 140209019 T C SNP PCDHA6 ENST00000529310 human ensembl 74_37 +1 known missense c.1343 p.M448T 1.000 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 PCDHA6 HGNC ENSG00000081842 149 0 0 60 50 45.4545 PCDHA6 0 genome.wustl.edu 37 5 140209848 140209848 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 140209848 140209848 G A SNP PCDHA6 ENST00000529310 human ensembl 74_37 +1 known silent c.2172 p.S724 0.004 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA6 HGNC ENSG00000081842 98 0 0 56 24 30 PCDHA8 0 genome.wustl.edu 37 5 140222139 140222139 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 140222139 140222139 C T SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known silent c.1233 p.S411 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 PCDHA8 HGNC ENSG00000204962 295 1 0.337838 130 65 33.3333 PCDHA9 0 genome.wustl.edu 37 5 140229442 140229442 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 140229442 140229442 G A SNP PCDHA9 ENST00000532602 human ensembl 74_37 +1 known silent c.1362 p.A454 0.000 superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 147 0 0 102 21 17.0732 PCDHA9 0 genome.wustl.edu 37 5 140229458 140229458 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 140229458 140229458 T C SNP PCDHA9 ENST00000532602 human ensembl 74_37 +1 known missense c.1378 p.Y460H 0.756 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 PCDHA9 HGNC ENSG00000204961 138 0 0 85 23 21.2963 PCDHA12 0 genome.wustl.edu 37 5 140256399 140256399 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 140256399 140256399 G A SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known missense c.1342 p.V448M 1.000 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 PCDHA12 HGNC ENSG00000251664 181 0 0 141 37 20.7865 PCDHB2 0 genome.wustl.edu 37 5 140475611 140475611 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 140475611 140475611 C T SNP PCDHB2 ENST00000194155 human ensembl 74_37 +1 known missense c.1237 p.R413W 0.860 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 PCDHB2 HGNC ENSG00000112852 133 0 0 71 55 43.6508 PCDHB4 0 genome.wustl.edu 37 5 140503193 140503193 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 140503193 140503193 C T SNP PCDHB4 ENST00000194152 human ensembl 74_37 +1 known missense c.1613 p.P538L 0.998 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 PCDHB4 HGNC ENSG00000081818 127 0 0 62 44 41.5094 PCDHB5 0 genome.wustl.edu 37 5 140516326 140516326 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 140516326 140516326 C T SNP PCDHB5 ENST00000231134 human ensembl 74_37 +1 known missense c.1310 p.T437M 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 PCDHB5 HGNC ENSG00000113209 160 0 0 140 34 19.5402 PCDHB11 0 genome.wustl.edu 37 5 140580140 140580140 + Missense_Mutation SNP T T G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 140580140 140580140 T G SNP PCDHB11 ENST00000354757 human ensembl 74_37 +1 known missense c.793 p.S265A 0.003 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 PCDHB11 HGNC ENSG00000197479 382 0 0 259 76 22.6866 PCDHB12 0 genome.wustl.edu 37 5 140589821 140589821 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 140589821 140589821 G A SNP PCDHB12 ENST00000239450 human ensembl 74_37 +1 known missense c.1342 p.A448T 0.452 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 174 0 0 111 44 28.3871 SLC25A2 0 genome.wustl.edu 37 5 140683405 140683405 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 140683405 140683405 C T SNP SLC25A2 ENST00000239451 human ensembl 74_37 -1 known missense c.28 p.A10T 0.973 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 SLC25A2 HGNC ENSG00000120329 52 0 0 24 26 52 PCDHGA2 0 genome.wustl.edu 37 5 140720625 140720625 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 140720625 140720625 C T SNP PCDHGA2 ENST00000394576 human ensembl 74_37 +1 known missense c.2087 p.A696V 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 200 1 0.497512 95 66 40.9938 PCDHGA4 0 genome.wustl.edu 37 5 140735325 140735325 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 140735325 140735325 C T SNP PCDHGA4 ENST00000571252 human ensembl 74_37 +1 known silent c.558 p.A186 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 PCDHGA4 HGNC ENSG00000262576 33 0 0 26 9 25.7143 PCDHGB3 0 genome.wustl.edu 37 5 140751489 140751489 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 140751489 140751489 C T SNP PCDHGB3 ENST00000576222 human ensembl 74_37 +1 known missense c.1528 p.R510W 0.003 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 PCDHGB3 HGNC ENSG00000262209 73 0 0 27 30 52.6316 PCDHGA7 0 genome.wustl.edu 37 5 140762611 140762611 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 140762611 140762611 G A SNP PCDHGA7 ENST00000518325 human ensembl 74_37 +1 known missense c.145 p.A49T 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA7 HGNC ENSG00000253537 117 0 0 74 37 33.3333 PCDHGA7 0 genome.wustl.edu 37 5 140763255 140763255 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 140763255 140763255 G A SNP PCDHGA7 ENST00000518325 human ensembl 74_37 +1 known silent c.789 p.T263 0.000 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 PCDHGA7 HGNC ENSG00000253537 49 0 0 30 8 21.0526 PCDHGC5 0 genome.wustl.edu 37 5 140890602 140890602 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 140890602 140890602 C T SNP PCDHGC5 ENST00000252087 human ensembl 74_37 +1 known silent c.2697 p.H899 0.116 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC5 HGNC ENSG00000240764 201 0 0 101 81 44.5055 PCDH1 0 genome.wustl.edu 37 5 141242997 141242997 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 141242997 141242997 G A SNP PCDH1 ENST00000287008 human ensembl 74_37 -1 known missense c.2899 p.R967C 1.000 pfam_Protocadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH1 HGNC ENSG00000156453 21 0 0 25 8 24.2424 PCDH12 0 genome.wustl.edu 37 5 141325259 141325259 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 141325259 141325259 G A SNP PCDH12 ENST00000231484 human ensembl 74_37 -1 known missense c.3242 p.T1081M 0.003 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH12 HGNC ENSG00000113555 138 0 0 75 68 47.5524 PCDH12 0 genome.wustl.edu 37 5 141325309 141325309 + Silent SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 141325309 141325309 G T SNP PCDH12 ENST00000231484 human ensembl 74_37 -1 known silent c.3192 p.P1064 0.970 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH12 HGNC ENSG00000113555 111 0 0 88 25 22.1239 SLC6A3 0 genome.wustl.edu 37 5 1441511 1441511 + Silent SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 1441511 1441511 C A SNP SLC6A3 ENST00000270349 human ensembl 74_37 -1 known silent c.381 p.G127 0.955 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine - no_errors SLC6A3 HGNC ENSG00000142319 58 0 0 45 35 43.75 FAM105A 0 genome.wustl.edu 37 5 14602314 14602314 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 14602314 14602314 G A SNP FAM105A ENST00000274217 human ensembl 74_37 +1 known missense c.371 p.R124Q 0.114 NULL prints_FAM105,prints_FAM105A - no_errors FAM105A HGNC ENSG00000145569 53 0 0 17 22 56.4103 SPINK5 0 genome.wustl.edu 37 5 147492431 147492431 + Missense_Mutation SNP C C G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 147492431 147492431 C G SNP SPINK5 ENST00000359874 human ensembl 74_37 +1 known missense c.1821 p.F607L 0.897 pfam_Kazal_dom,smart_Kazal_dom pfam_Kazal_dom,smart_Kazal_dom - no_errors SPINK5 HGNC ENSG00000133710 60 0 0 40 10 20 PDE6A 0 genome.wustl.edu 37 5 149323840 149323840 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 149323840 149323840 C T SNP PDE6A ENST00000255266 human ensembl 74_37 -1 known missense c.397 p.V133I 1.000 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6A HGNC ENSG00000132915 188 0 0 135 26 16.1491 SPARC 0 genome.wustl.edu 37 5 151045951 151045951 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 151045951 151045951 G A SNP SPARC ENST00000231061 human ensembl 74_37 -1 known silent c.705 p.F235 0.181 pfam_SPARC/Testican_Ca-bd-dom pfam_SPARC/Testican_Ca-bd-dom,pfam_Follistatin/Osteonectin_EGF,pfam_Kazal_dom,smart_Fol_N,smart_Kazal_dom - no_errors SPARC HGNC ENSG00000113140 59 0 0 43 37 46.25 FAXDC2 0 genome.wustl.edu 37 5 154199997 154199997 + Missense_Mutation SNP T T A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 154199997 154199997 T A SNP FAXDC2 ENST00000326080 human ensembl 74_37 -1 known missense c.881 p.D294V 1.000 NULL pfam_Fatty_acid_hydroxylase - no_errors FAXDC2 HGNC ENSG00000170271 94 0 0 64 21 24.7059 HAVCR1 0 genome.wustl.edu 37 5 156482446 156482446 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 156482446 156482446 T C SNP HAVCR1 ENST00000425854 human ensembl 74_37 -1 known missense c.145 p.R49G 0.008 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors HAVCR1 HGNC ENSG00000113249 48 0 0 43 13 23.2143 EBF1 0 genome.wustl.edu 37 5 158140003 158140003 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 158140003 158140003 G A SNP EBF1 ENST00000313708 human ensembl 74_37 -1 known silent c.1344 p.S448 0.000 NULL pfam_IPT,superfamily_Ig_E-set,superfamily_bHLH_dom,smart_IPT - no_errors EBF1 HGNC ENSG00000164330 61 0 0 36 32 47.0588 FBXL7 0 genome.wustl.edu 37 5 15928282 15928282 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 15928282 15928282 C T SNP FBXL7 ENST00000504595 human ensembl 74_37 +1 known silent c.411 p.C137 0.989 pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom 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 21 0 0 2 6 75 FBXL7 0 genome.wustl.edu 37 5 15928344 15928344 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 15928344 15928344 G A SNP FBXL7 ENST00000504595 human ensembl 74_37 +1 known missense c.473 p.R158H 1.000 superfamily_F-box_dom 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 19 0 0 8 8 50 FBXL7 0 genome.wustl.edu 37 5 15937192 15937192 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 15937192 15937192 C T SNP FBXL7 ENST00000504595 human ensembl 74_37 +1 known missense c.1373 p.T458M 1.000 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 37 0 0 36 9 20 FBXL7 0 genome.wustl.edu 37 5 15937211 15937211 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 15937211 15937211 C T SNP FBXL7 ENST00000504595 human ensembl 74_37 +1 known silent c.1392 p.C464 1.000 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 33 0 0 31 6 16.2162 FABP6 0 genome.wustl.edu 37 5 159665630 159665630 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 159665630 159665630 C T SNP FABP6 ENST00000393980 human ensembl 74_37 +1 known silent c.498 p.G166 0.000 superfamily_Calycin-like,prints_Fatty_acid-bd superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors FABP6 HGNC ENSG00000170231 102 0 0 63 37 37 C5orf54 0 genome.wustl.edu 37 5 159821324 159821324 + Nonsense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 159821324 159821324 G A SNP C5orf54 ENST00000408953 human ensembl 74_37 -1 known nonsense c.1174 p.Q392* 0.999 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom - no_errors C5orf54 HGNC ENSG00000221886 139 0 0 50 43 46.2366 ATP10B 0 genome.wustl.edu 37 5 160033840 160033840 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 160033840 160033840 G A SNP ATP10B ENST00000327245 human ensembl 74_37 -1 known missense c.3092 p.T1031M 1.000 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10B HGNC ENSG00000118322 131 0 0 90 40 30.7692 MYO10 0 genome.wustl.edu 37 5 16675074 16675074 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 16675074 16675074 G A SNP MYO10 ENST00000513610 human ensembl 74_37 -1 known missense c.4852 p.P1618S 1.000 pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 120 0 0 78 27 25.7143 TENM2 0 genome.wustl.edu 37 5 167674043 167674043 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 167674043 167674043 C T SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known silent c.6099 p.Y2033 0.887 superfamily_ConA-like_lec_gl_sf 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 76 0 0 67 16 19.2771 TENM2 0 genome.wustl.edu 37 5 167674297 167674297 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 167674297 167674297 G A SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known missense c.6353 p.R2118H 1.000 superfamily_ConA-like_lec_gl_sf 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 189 0 0 106 83 43.9153 TENM2 0 genome.wustl.edu 37 5 167689674 167689674 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 167689674 167689674 C T SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known silent c.8184 p.G2728 0.927 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 14 0 0 7 5 41.6667 SLIT3 0 genome.wustl.edu 37 5 168112863 168112863 + Nonsense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 168112863 168112863 G T SNP SLIT3 ENST00000519560 human ensembl 74_37 -1 known nonsense c.3384 p.C1128* 1.000 pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 49 0 0 33 7 17.5 SLIT3 0 genome.wustl.edu 37 5 168112913 168112913 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 168112913 168112913 G A SNP SLIT3 ENST00000519560 human ensembl 74_37 -1 known missense c.3334 p.P1112S 1.000 NULL pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 48 0 0 27 15 35.7143 RANBP17 0 genome.wustl.edu 37 5 170337986 170337986 + Missense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 170337986 170337986 C A SNP RANBP17 ENST00000523189 human ensembl 74_37 +1 known missense c.608 p.P203H 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors RANBP17 HGNC ENSG00000204764 105 0 0 47 26 35.6164 RANBP17 0 genome.wustl.edu 37 5 170345805 170345805 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 170345805 170345805 T C SNP RANBP17 ENST00000523189 human ensembl 74_37 +1 known missense c.1043 p.V348A 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors RANBP17 HGNC ENSG00000204764 73 0 0 20 29 59.1837 FGF18 0 genome.wustl.edu 37 5 170883784 170883784 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 170883784 170883784 G A SNP FGF18 ENST00000274625 human ensembl 74_37 +1 known missense c.599 p.R200Q 0.998 NULL pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF18 HGNC ENSG00000156427 87 0 0 47 48 50.5263 ERGIC1 0 genome.wustl.edu 37 5 172315747 172315747 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 172315747 172315747 G A SNP ERGIC1 ENST00000393784 human ensembl 74_37 +1 known silent c.66 p.T22 0.996 NULL pfam_Erv_C - no_errors ERGIC1 HGNC ENSG00000113719 75 0 0 35 34 49.2754 BASP1 0 genome.wustl.edu 37 5 17275821 17275821 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 17275821 17275821 G A SNP BASP1 ENST00000322611 human ensembl 74_37 +1 known missense c.496 p.G166R 1.000 pfam_BASP1 pfam_BASP1 - no_errors BASP1 HGNC ENSG00000176788 18 0 0 3 7 70 EIF4E1B 0 genome.wustl.edu 37 5 176070674 176070674 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 176070674 176070674 C T SNP EIF4E1B ENST00000318682 human ensembl 74_37 +1 known missense c.235 p.R79W 1.000 pfam_TIF_eIF_4E,superfamily_TIF_eIF4e-like_dom pfam_TIF_eIF_4E,superfamily_TIF_eIF4e-like_dom - no_errors EIF4E1B HGNC ENSG00000175766 30 0 0 12 8 40 UNC5A 0 genome.wustl.edu 37 5 176301281 176301281 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 176301281 176301281 C T SNP UNC5A ENST00000329542 human ensembl 74_37 +1 known silent c.1092 p.L364 1.000 NULL pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5A HGNC ENSG00000113763 139 0 0 79 27 25.4717 HK3 0 genome.wustl.edu 37 5 176323157 176323157 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 176323157 176323157 C T SNP HK3 ENST00000292432 human ensembl 74_37 -1 known missense c.4 p.D2N 0.999 NULL pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK3 HGNC ENSG00000160883 43 0 0 30 16 34.7826 FGFR4 0 genome.wustl.edu 37 5 176519354 176519354 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 176519354 176519354 G A SNP FGFR4 ENST00000292408 human ensembl 74_37 +1 known missense c.760 p.G254R 1.000 pirsf_FGF_rcpt_fam,pfscan_Ig-like_dom 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 FGFR4 HGNC ENSG00000160867 28 0 0 25 16 39.0244 FAM193B 0 genome.wustl.edu 37 5 176952097 176952097 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 176952097 176952097 C T SNP FAM193B ENST00000443375 human ensembl 74_37 -1 known missense c.1286 p.R429Q 0.716 NULL NULL - no_errors FAM193B HGNC ENSG00000146067 66 0 0 36 18 33.3333 ZNF354A 0 genome.wustl.edu 37 5 178139553 178139553 + Silent SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 178139553 178139553 T C SNP ZNF354A ENST00000335815 human ensembl 74_37 -1 known silent c.1326 p.E442 0.997 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 ZNF354A HGNC ENSG00000169131 166 0 0 52 39 42.8571 GRM6 0 genome.wustl.edu 37 5 178416364 178416364 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 178416364 178416364 C T SNP GRM6 ENST00000231188 human ensembl 74_37 -1 known missense c.1055 p.R352H 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM6 HGNC ENSG00000113262 174 0 0 128 11 7.91367 TBC1D9B 0 genome.wustl.edu 37 5 179300246 179300246 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 179300246 179300246 T C SNP TBC1D9B ENST00000356834 human ensembl 74_37 -1 known missense c.2189 p.Y730C 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9B HGNC ENSG00000197226 19 0 0 12 3 20 TBC1D9B 0 genome.wustl.edu 37 5 179301925 179301925 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 179301925 179301925 G A SNP TBC1D9B ENST00000356834 human ensembl 74_37 -1 known silent c.2163 p.G721 0.993 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9B HGNC ENSG00000197226 58 0 0 52 14 21.2121 BTNL8 0 genome.wustl.edu 37 5 180377103 180377103 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 180377103 180377103 C T SNP BTNL8 ENST00000340184 human ensembl 74_37 +1 known silent c.1062 p.R354 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,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTNL8 HGNC ENSG00000113303 56 0 0 11 39 78 BTNL9 0 genome.wustl.edu 37 5 180475228 180475228 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 180475228 180475228 C T SNP BTNL9 ENST00000376842 human ensembl 74_37 +1 known silent c.411 p.S137 0.004 pfam_Ig_V-set,smart_Ig_sub pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin - no_errors BTNL9 HGNC ENSG00000165810 39 0 0 27 12 30.7692 SDHA 0 genome.wustl.edu 37 5 231070 231070 + Missense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 231070 231070 G T SNP SDHA ENST00000264932 human ensembl 74_37 +1 known missense c.850 p.G284C 1.000 pfam_FAD_bind_dom,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Succ_DH/fumarate_Rdtase_cat,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg - no_errors SDHA HGNC ENSG00000073578 54 0 0 55 11 16.6667 SDHA 0 genome.wustl.edu 37 5 233710 233710 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 233710 233710 G A SNP SDHA ENST00000264932 human ensembl 74_37 +1 known silent c.1014 p.A338 0.876 pfam_FAD_bind_dom,superfamily_Succ_DH/fumarate_Rdtase_cat,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Succ_DH/fumarate_Rdtase_cat,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg - no_errors SDHA HGNC ENSG00000073578 185 0 0 120 46 27.7108 DROSHA 0 genome.wustl.edu 37 5 31493322 31493322 + Missense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 31493322 31493322 G T SNP DROSHA ENST00000344624 human ensembl 74_37 -1 known missense c.1834 p.L612M 1.000 NULL pfam_RNase_III_dom,pfam_dsRNA-bd_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom - no_errors DROSHA HGNC ENSG00000113360 19 0 0 22 4 15.3846 ADAMTS12 0 genome.wustl.edu 37 5 33527391 33527391 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 33527391 33527391 C T SNP ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known missense c.4687 p.V1563M 0.863 pfscan_PLAC pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 260 0 0 108 211 66.1442 SLC1A3 0 genome.wustl.edu 37 5 36686195 36686195 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 36686195 36686195 C T SNP SLC1A3 ENST00000265113 human ensembl 74_37 +1 known silent c.1453 p.L485 0.996 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A3 HGNC ENSG00000079215 115 0 0 62 108 63.5294 OSMR 0 genome.wustl.edu 37 5 38924544 38924544 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 38924544 38924544 G A SNP OSMR ENST00000274276 human ensembl 74_37 +1 known missense c.1891 p.V631M 0.855 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors OSMR HGNC ENSG00000145623 127 0 0 148 29 16.3842 ANXA2R 0 genome.wustl.edu 37 5 43039821 43039821 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 43039821 43039821 C T SNP ANXA2R ENST00000314890 human ensembl 74_37 -1 known missense c.328 p.A110T 0.000 NULL NULL - no_errors ANXA2R HGNC ENSG00000177721 112 0 0 165 27 14.0625 ZNF131 0 genome.wustl.edu 37 5 43161499 43161499 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 43161499 43161499 G A SNP ZNF131 ENST00000399534 human ensembl 74_37 +1 known missense c.520 p.E174K 1.000 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 ZNF131 HGNC ENSG00000172262 139 0 0 63 116 64.8045 ITGA2 0 genome.wustl.edu 37 5 52361675 52361675 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 52361675 52361675 T C SNP ITGA2 ENST00000296585 human ensembl 74_37 +1 known missense c.1811 p.I604T 1.000 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA2 HGNC ENSG00000164171 95 0 0 92 19 17.1171 KIAA0947 0 genome.wustl.edu 37 5 5476148 5476148 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 5476148 5476148 C T SNP KIAA0947 ENST00000296564 human ensembl 74_37 +1 known missense c.6476 p.A2159V 0.004 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 20 0 0 31 7 18.4211 IL31RA 0 genome.wustl.edu 37 5 55202092 55202092 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 55202092 55202092 G A SNP IL31RA ENST00000447346 human ensembl 74_37 +1 known missense c.1228 p.A410T 0.323 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL31RA HGNC ENSG00000164509 57 0 0 39 13 25 ERCC8 0 genome.wustl.edu 37 5 60195512 60195512 + Silent SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 60195512 60195512 T C SNP ERCC8 ENST00000265038 human ensembl 74_37 -1 known silent c.660 p.S220 0.996 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors ERCC8 HGNC ENSG00000049167 107 0 0 74 18 19.5652 PAPD7 0 genome.wustl.edu 37 5 6739923 6739923 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 6739923 6739923 C T SNP PAPD7 ENST00000230859 human ensembl 74_37 +1 known silent c.216 p.N72 0.115 pfam_Nucleotidyltransferase pfam_PAP_assoc,pfam_Nucleotidyltransferase - no_errors PAPD7 HGNC ENSG00000112941 58 0 0 46 13 22.0339 MARVELD2 0 genome.wustl.edu 37 5 68715902 68715902 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 68715902 68715902 G A SNP MARVELD2 ENST00000325631 human ensembl 74_37 +1 known silent c.690 p.P230 0.053 pfam_Marvel pfam_Occludin_RNApol2_elong_fac_ELL,pfam_Marvel - no_errors MARVELD2 HGNC ENSG00000152939 173 0 0 123 25 16.8919 TMEM171 0 genome.wustl.edu 37 5 72419288 72419288 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 72419288 72419288 G A SNP TMEM171 ENST00000454765 human ensembl 74_37 +1 known missense c.88 p.A30T 0.044 NULL NULL - no_errors TMEM171 HGNC ENSG00000157111 142 0 0 95 35 26.9231 IQGAP2 0 genome.wustl.edu 37 5 75989260 75989260 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 75989260 75989260 C T SNP IQGAP2 ENST00000274364 human ensembl 74_37 +1 known missense c.3986 p.A1329V 0.000 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP - no_errors IQGAP2 HGNC ENSG00000145703 68 0 0 32 22 40.7407 ARSB 0 genome.wustl.edu 37 5 78076234 78076234 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 78076234 78076234 C T SNP ARSB ENST00000264914 human ensembl 74_37 -1 known missense c.1588 p.G530S 1.000 superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSB HGNC ENSG00000113273 126 0 0 98 26 20.9677 BHMT2 0 genome.wustl.edu 37 5 78376543 78376543 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 78376543 78376543 G A SNP BHMT2 ENST00000255192 human ensembl 74_37 +1 known missense c.292 p.A98T 1.000 pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase - no_errors BHMT2 HGNC ENSG00000132840 163 0 0 103 79 43.4066 BHMT 0 genome.wustl.edu 37 5 78416205 78416205 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 78416205 78416205 C T SNP BHMT ENST00000274353 human ensembl 74_37 +1 known silent c.318 p.I106 1.000 pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase - no_errors BHMT HGNC ENSG00000145692 60 0 0 32 21 39.6226 FASTKD3 0 genome.wustl.edu 37 5 7866895 7866895 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 7866895 7866895 G A SNP FASTKD3 ENST00000264669 human ensembl 74_37 -1 known silent c.1302 p.N434 0.000 pfam_FAST_Leu-rich pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD3 HGNC ENSG00000124279 109 0 0 79 13 14.1304 MTRR 0 genome.wustl.edu 37 5 7873574 7873574 + Missense_Mutation SNP T T G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 7873574 7873574 T G SNP MTRR ENST00000264668 human ensembl 74_37 +1 known missense c.299 p.V100G 0.998 pfam_Flavodoxin/NO_synth,pfscan_Flavodoxin/NO_synth pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors MTRR HGNC ENSG00000124275 209 0 0 161 50 23.6967 CMYA5 0 genome.wustl.edu 37 5 79028806 79028806 + Silent SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 79028806 79028806 T C SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known silent c.4218 p.S1406 0.000 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 43 0 0 23 7 23.3333 ZFYVE16 0 genome.wustl.edu 37 5 79733734 79733734 + Silent SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 79733734 79733734 A G SNP ZFYVE16 ENST00000338008 human ensembl 74_37 +1 known silent c.1230 p.A410 0.000 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 97 0 0 51 18 26.087 ACOT12 0 genome.wustl.edu 37 5 80641746 80641746 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 80641746 80641746 C T SNP ACOT12 ENST00000307624 human ensembl 74_37 -1 known missense c.731 p.R244H 0.949 pfam_Thioestr_supf pfam_Thioestr_supf,pfam_START_lipid-bd_dom,pfscan_START_lipid-bd_dom - no_errors ACOT12 HGNC ENSG00000172497 87 0 0 70 25 26.3158 RASA1 0 genome.wustl.edu 37 5 86674344 86674344 + Nonsense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 86674344 86674344 C T SNP RASA1 ENST00000274376 human ensembl 74_37 +1 known nonsense c.2476 p.Q826* 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2 - no_errors RASA1 HGNC ENSG00000145715 66 0 0 54 11 16.9231 GPR98 0 genome.wustl.edu 37 5 89947441 89947441 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 89947441 89947441 T C SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.3310 p.Y1104H 0.005 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 30 0 0 8 6 42.8571 GPR98 0 genome.wustl.edu 37 5 89954001 89954001 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 89954001 89954001 G A SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.4658 p.R1553H 0.997 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 145 0 0 67 29 30.2083 SEMA5A 0 genome.wustl.edu 37 5 9136623 9136623 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 9136623 9136623 G A SNP SEMA5A ENST00000382496 human ensembl 74_37 -1 known missense c.1592 p.A531V 0.005 superfamily_Plexin-like_fold,smart_Plexin-like_fold pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 38 0 0 22 17 43.5897 POU5F2 0 genome.wustl.edu 37 5 93076968 93076968 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 93076968 93076968 G A SNP POU5F2 ENST00000510627 human ensembl 74_37 -1 known missense c.302 p.P101L 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 POU5F2 HGNC ENSG00000248483 45 0 0 21 12 36.3636 ASCC3 0 genome.wustl.edu 37 6 101054868 101054868 + Nonsense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 101054868 101054868 G A SNP ASCC3 ENST00000369162 human ensembl 74_37 -1 known nonsense c.4882 p.R1628* 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 75 0 0 46 14 23.3333 POPDC3 0 genome.wustl.edu 37 6 105606568 105606568 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 105606568 105606568 T C SNP POPDC3 ENST00000254765 human ensembl 74_37 -1 known missense c.653 p.Y218C 1.000 pfam_Popeye_prot,superfamily_cNMP-bd-like pfam_Popeye_prot,superfamily_cNMP-bd-like - no_errors POPDC3 HGNC ENSG00000132429 364 0 0 292 89 23.3596 PREP 0 genome.wustl.edu 37 6 105726225 105726225 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 105726225 105726225 G A SNP PREP ENST00000369110 human ensembl 74_37 -1 known missense c.1927 p.R643C 1.000 pfam_Peptidase_S9,prints_Peptidase_S9A pfam_Pept_S9A_N,pfam_Peptidase_S9,prints_Peptidase_S9A - no_errors PREP HGNC ENSG00000085377 47 0 0 40 12 23.0769 GCNT2 0 genome.wustl.edu 37 6 10587045 10587045 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 10587045 10587045 G A SNP GCNT2 ENST00000265012 human ensembl 74_37 +1 known missense c.823 p.D275N 0.972 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT2 HGNC ENSG00000111846 151 1 0.657895 208 28 11.8644 SOBP 0 genome.wustl.edu 37 6 107908370 107908370 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 107908370 107908370 C T SNP SOBP ENST00000317357 human ensembl 74_37 +1 known silent c.660 p.C220 1.000 NULL NULL - no_errors SOBP HGNC ENSG00000112320 179 0 0 83 66 44.2953 SOBP 0 genome.wustl.edu 37 6 107955624 107955624 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 107955624 107955624 C T SNP SOBP ENST00000317357 human ensembl 74_37 +1 known missense c.1576 p.P526S 1.000 NULL NULL - no_errors SOBP HGNC ENSG00000112320 42 0 0 32 10 23.8095 MAK 0 genome.wustl.edu 37 6 10796375 10796375 + Silent SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 10796375 10796375 T C SNP MAK ENST00000313243 human ensembl 74_37 -1 known silent c.999 p.G333 0.030 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 MAK HGNC ENSG00000111837 154 0 0 256 27 9.54064 GCM2 0 genome.wustl.edu 37 6 10874462 10874462 + Silent SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 10874462 10874462 G T SNP GCM2 ENST00000379491 human ensembl 74_37 -1 known silent c.1287 p.P429 0.000 NULL pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif - no_errors GCM2 HGNC ENSG00000124827 68 0 0 84 9 9.67742 GCM2 0 genome.wustl.edu 37 6 10874821 10874821 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 10874821 10874821 G A SNP GCM2 ENST00000379491 human ensembl 74_37 -1 known silent c.928 p.L310 0.000 NULL pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif - no_errors GCM2 HGNC ENSG00000124827 369 1 0.27027 552 84 13.2075 REV3L 0 genome.wustl.edu 37 6 111696826 111696826 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 111696826 111696826 C T SNP REV3L ENST00000358835 human ensembl 74_37 -1 known missense c.2732 p.G911E 1.000 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 131 0 0 107 33 23.5714 KPNA5 0 genome.wustl.edu 37 6 117043431 117043431 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 117043431 117043431 G A SNP KPNA5 ENST00000356348 human ensembl 74_37 +1 known missense c.899 p.R300Q 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA5 HGNC ENSG00000196911 67 0 0 36 9 20 SOGA3 0 genome.wustl.edu 37 6 127796980 127796980 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 127796980 127796980 A G SNP SOGA3 ENST00000368268 human ensembl 74_37 -1 known missense c.2191 p.S731P 1.000 NULL pfam_SOGA - no_errors SOGA3 HGNC ENSG00000214338 154 0 0 81 85 51.2048 ALDH8A1 0 genome.wustl.edu 37 6 135239851 135239851 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 135239851 135239851 G A SNP ALDH8A1 ENST00000265605 human ensembl 74_37 -1 known missense c.1166 p.T389M 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH8A1 HGNC ENSG00000118514 162 0 0 74 75 50.3356 RANBP9 0 genome.wustl.edu 37 6 13622649 13622649 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 13622649 13622649 G A SNP RANBP9 ENST00000011619 human ensembl 74_37 -1 known missense c.2135 p.A712V 1.000 pfam_CTLH/CRA,smart_CRA_dom pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RANBP9 HGNC ENSG00000010017 122 0 0 160 27 14.4385 IL20RA 0 genome.wustl.edu 37 6 137323028 137323028 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 137323028 137323028 C T SNP IL20RA ENST00000316649 human ensembl 74_37 -1 known silent c.1329 p.P443 0.003 NULL pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3 - no_errors IL20RA HGNC ENSG00000016402 88 0 0 58 49 45.7944 TNFAIP3 0 genome.wustl.edu 37 6 138199687 138199687 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 138199687 138199687 G A SNP TNFAIP3 ENST00000237289 human ensembl 74_37 +1 known missense c.1105 p.A369T 0.000 NULL pfam_Znf_A20,pfam_OTU,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors TNFAIP3 HGNC ENSG00000118503 111 0 0 71 41 36.6071 HECA 0 genome.wustl.edu 37 6 139488290 139488290 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 139488290 139488290 C T SNP HECA ENST00000367658 human ensembl 74_37 +1 known missense c.1141 p.R381W 1.000 NULL superfamily_Glycoside_hydrolase_SF - no_errors HECA HGNC ENSG00000112406 51 0 0 32 18 36 HIVEP2 0 genome.wustl.edu 37 6 143094060 143094060 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 143094060 143094060 C T SNP HIVEP2 ENST00000012134 human ensembl 74_37 -1 known missense c.1816 p.V606M 0.001 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 165 0 0 137 33 19.4118 PHACTR2 0 genome.wustl.edu 37 6 144086828 144086828 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 144086828 144086828 C T SNP PHACTR2 ENST00000440869 human ensembl 74_37 +1 known silent c.1125 p.P375 0.000 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR2 HGNC ENSG00000112419 131 0 0 108 28 20.5882 UTRN 0 genome.wustl.edu 37 6 144814587 144814587 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 144814587 144814587 G A SNP UTRN ENST00000367545 human ensembl 74_37 +1 known missense c.4588 p.A1530T 0.999 smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,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 UTRN HGNC ENSG00000152818 81 0 0 38 12 24 SASH1 0 genome.wustl.edu 37 6 148853974 148853974 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 148853974 148853974 C T SNP SASH1 ENST00000367467 human ensembl 74_37 +1 known missense c.1606 p.R536W 1.000 pfam_rSAM/SH3_domain-containing pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH1 HGNC ENSG00000111961 123 0 0 92 20 17.8571 PPIL4 0 genome.wustl.edu 37 6 149842224 149842224 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 149842224 149842224 C T SNP PPIL4 ENST00000253329 human ensembl 74_37 -1 known silent c.954 p.S318 0.980 pfscan_RRM_dom pfam_Cyclophilin-like_PPIase_dom,pfam_RRM_dom,superfamily_Cyclophilin-like_PPIase_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIL4 HGNC ENSG00000131013 188 0 0 136 29 17.5758 LRP11 0 genome.wustl.edu 37 6 150157316 150157316 + Missense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 150157316 150157316 G T SNP LRP11 ENST00000239367 human ensembl 74_37 -1 known missense c.1157 p.T386N 0.794 NULL pfam_MANSC_N,pfam_LDrepeatLR_classA_rpt,superfamily_PKD_dom,superfamily_LDrepeatLR_classA_rpt,smart_MANSC_N,smart_PKD/Chitinase_dom,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_MANSC,pfscan_PKD_dom - no_errors LRP11 HGNC ENSG00000120256 116 1 0.854701 95 26 21.4876 PLEKHG1 0 genome.wustl.edu 37 6 151161744 151161744 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 151161744 151161744 G A SNP PLEKHG1 ENST00000358517 human ensembl 74_37 +1 known silent c.3870 p.S1290 0.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG1 HGNC ENSG00000120278 107 0 0 63 40 38.835 SYNE1 0 genome.wustl.edu 37 6 152454426 152454426 + Silent SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 152454426 152454426 C A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.25986 p.V8662 1.000 NULL 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 276 0 0 174 23 11.6751 SYNE1 0 genome.wustl.edu 37 6 152462385 152462385 + Missense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 152462385 152462385 C A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.25199 p.S8400I 0.350 NULL 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 151 1 0.657895 113 46 28.9308 SYNE1 0 genome.wustl.edu 37 6 152464870 152464870 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 152464870 152464870 C T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.25007 p.R8336Q 1.000 NULL 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 146 0 0 76 58 43.2836 CNKSR3 0 genome.wustl.edu 37 6 154762478 154762478 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 154762478 154762478 G A SNP CNKSR3 ENST00000607772 human ensembl 74_37 -1 known missense c.455 p.T152M 0.923 pfam_CRIC_domain_Chordata pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,pfscan_PDZ,pfscan_SAM - no_errors CNKSR3 HGNC ENSG00000153721 137 0 0 111 28 20.1439 JARID2 0 genome.wustl.edu 37 6 15512546 15512546 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 15512546 15512546 C T SNP JARID2 ENST00000341776 human ensembl 74_37 +1 known silent c.3060 p.C1020 1.000 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom 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 155 0 0 223 29 11.5079 NOX3 0 genome.wustl.edu 37 6 155776036 155776036 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 155776036 155776036 C T SNP NOX3 ENST00000159060 human ensembl 74_37 -1 known missense c.164 p.R55Q 1.000 NULL pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX3 HGNC ENSG00000074771 21 0 0 18 9 33.3333 SYNJ2 0 genome.wustl.edu 37 6 158492775 158492775 + Missense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 158492775 158492775 G T SNP SYNJ2 ENST00000355585 human ensembl 74_37 +1 known missense c.2082 p.K694N 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 71 0 0 71 9 11.25 SYNJ2 0 genome.wustl.edu 37 6 158507968 158507968 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 158507968 158507968 C T SNP SYNJ2 ENST00000355585 human ensembl 74_37 +1 known missense c.3290 p.S1097L 0.944 NULL pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 70 0 0 39 32 45.0704 SYNJ2 0 genome.wustl.edu 37 6 158516709 158516709 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 158516709 158516709 G A SNP SYNJ2 ENST00000355585 human ensembl 74_37 +1 known silent c.3804 p.P1268 0.989 NULL pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 115 0 0 81 20 19.802 SYNJ2 0 genome.wustl.edu 37 6 158516907 158516907 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 158516907 158516907 G A SNP SYNJ2 ENST00000355585 human ensembl 74_37 +1 known silent c.4002 p.P1334 0.150 NULL pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 110 0 0 76 23 23.2323 TULP4 0 genome.wustl.edu 37 6 158902301 158902301 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 158902301 158902301 C T SNP TULP4 ENST00000367097 human ensembl 74_37 +1 known missense c.1466 p.P489L 0.005 NULL pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 30 0 0 28 10 26.3158 TULP4 0 genome.wustl.edu 37 6 158924381 158924381 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 158924381 158924381 C T SNP TULP4 ENST00000367097 human ensembl 74_37 +1 known missense c.3686 p.P1229L 0.026 NULL pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 75 0 0 49 49 50 EZR 0 genome.wustl.edu 37 6 159191890 159191890 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 159191890 159191890 G A SNP EZR ENST00000337147 human ensembl 74_37 -1 known silent c.996 p.T332 0.998 pirsf_ERM pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain - no_errors EZR HGNC ENSG00000092820 114 0 0 95 29 23.3871 FNDC1 0 genome.wustl.edu 37 6 159653582 159653582 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 159653582 159653582 G A SNP FNDC1 ENST00000297267 human ensembl 74_37 +1 known missense c.2038 p.V680I 0.001 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC ENSG00000164694 36 0 0 20 18 47.3684 FNDC1 0 genome.wustl.edu 37 6 159672348 159672348 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 159672348 159672348 T C SNP FNDC1 ENST00000297267 human ensembl 74_37 +1 known missense c.4849 p.Y1617H 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC ENSG00000164694 35 0 0 24 15 38.4615 LPA 0 genome.wustl.edu 37 6 160953680 160953680 + Silent SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 160953680 160953680 A G SNP LPA ENST00000316300 human ensembl 74_37 -1 known silent c.5844 p.G1948 0.985 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 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 97 0 0 50 19 27.5362 MYLIP 0 genome.wustl.edu 37 6 16130862 16130862 + Silent SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 16130862 16130862 A G SNP MYLIP ENST00000356840 human ensembl 74_37 +1 known silent c.162 p.L54 1.000 pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_N,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,pfscan_Znf_RING,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors MYLIP HGNC ENSG00000007944 100 0 0 170 20 10.5263 MYLIP 0 genome.wustl.edu 37 6 16145303 16145303 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 16145303 16145303 G A SNP MYLIP ENST00000356840 human ensembl 74_37 +1 known missense c.1003 p.V335I 0.981 NULL pfam_FERM_N,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,pfscan_Znf_RING,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors MYLIP HGNC ENSG00000007944 191 1 0.520833 328 37 10.137 MYLIP 0 genome.wustl.edu 37 6 16146931 16146931 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 16146931 16146931 G A SNP MYLIP ENST00000356840 human ensembl 74_37 +1 known silent c.1287 p.Q429 1.000 NULL pfam_FERM_N,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,pfscan_Znf_RING,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors MYLIP HGNC ENSG00000007944 26 0 0 8 23 74.1935 MAP3K4 0 genome.wustl.edu 37 6 161470974 161470974 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 161470974 161470974 C T SNP MAP3K4 ENST00000392142 human ensembl 74_37 +1 known missense c.1670 p.A557V 0.878 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 MAP3K4 HGNC ENSG00000085511 131 0 0 67 43 39.0909 GMPR 0 genome.wustl.edu 37 6 16290815 16290815 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 16290815 16290815 G A SNP GMPR ENST00000259727 human ensembl 74_37 +1 known missense c.820 p.A274T 1.000 pfam_IMP_DH_GMPRt,pirsf_GMP_reduct1,tigrfam_GMP_reduct1 pfam_IMP_DH_GMPRt,pirsf_GMP_reduct1,tigrfam_GMP_reduct1 - no_errors GMPR HGNC ENSG00000137198 140 0 0 270 42 13.4615 ATXN1 0 genome.wustl.edu 37 6 16306824 16306824 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 16306824 16306824 G A SNP ATXN1 ENST00000244769 human ensembl 74_37 -1 known silent c.2184 p.N728 0.996 NULL pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1 HGNC ENSG00000124788 122 0 0 59 150 71.7703 UNC93A 0 genome.wustl.edu 37 6 167719512 167719512 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 167719512 167719512 C T SNP UNC93A ENST00000230256 human ensembl 74_37 +1 known missense c.950 p.T317M 0.995 superfamily_MFS_dom_general_subst_transpt pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93A HGNC ENSG00000112494 153 0 0 119 38 24.2038 UNC93A 0 genome.wustl.edu 37 6 167728784 167728784 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 167728784 167728784 C T SNP UNC93A ENST00000230256 human ensembl 74_37 +1 known silent c.1218 p.C406 0.268 superfamily_MFS_dom_general_subst_transpt pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93A HGNC ENSG00000112494 239 0 0 181 25 12.1359 SMOC2 0 genome.wustl.edu 37 6 168910766 168910766 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 168910766 168910766 G A SNP SMOC2 ENST00000354536 human ensembl 74_37 +1 known missense c.256 p.D86N 1.000 superfamily_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_EF_hand_dom,pfscan_Thyroglobulin_1 - no_errors SMOC2 HGNC ENSG00000112562 67 0 0 44 33 42.8571 FAM120B 0 genome.wustl.edu 37 6 170657408 170657408 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 170657408 170657408 C T SNP FAM120B ENST00000537664 human ensembl 74_37 +1 known silent c.2256 p.V752 0.929 NULL NULL - no_errors FAM120B HGNC ENSG00000112584 77 0 0 53 18 25.3521 TPMT 0 genome.wustl.edu 37 6 18148086 18148086 + Silent SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 18148086 18148086 A G SNP TPMT ENST00000309983 human ensembl 74_37 -1 known silent c.201 p.F67 0.982 pfam_TPMT,pirsf_Thiopurine_S-MeTrfase pfam_TPMT,pirsf_Thiopurine_S-MeTrfase - no_errors TPMT HGNC ENSG00000137364 135 0 0 204 22 9.73451 CDKAL1 0 genome.wustl.edu 37 6 20739811 20739811 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 20739811 20739811 C T SNP CDKAL1 ENST00000274695 human ensembl 74_37 +1 known missense c.433 p.R145C 1.000 pfam_Methylthiotransferase_N,tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase pfam_Methylthiotransferase_N,pfam_rSAM,pfam_TRAM_dom,smart_Elp3/MiaB/NifB,pfscan_TRAM_dom,tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase - no_errors CDKAL1 HGNC ENSG00000145996 39 0 0 59 7 10.6061 GPLD1 0 genome.wustl.edu 37 6 24456738 24456738 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 24456738 24456738 G A SNP GPLD1 ENST00000230036 human ensembl 74_37 -1 known missense c.1136 p.A379V 0.094 smart_Int_alpha_beta-p pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Gprt_PLipase_D - no_errors GPLD1 HGNC ENSG00000112293 137 1 0.724638 193 28 12.6697 KIAA0319 0 genome.wustl.edu 37 6 24596739 24596739 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 24596739 24596739 C T SNP KIAA0319 ENST00000378214 human ensembl 74_37 -1 known missense c.163 p.V55I 0.041 smart_MANSC_N,pfscan_MANSC pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319 HGNC ENSG00000137261 66 0 0 121 20 14.1844 HIST1H2AA 0 genome.wustl.edu 37 6 25726615 25726615 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 25726615 25726615 G A SNP HIST1H2AA ENST00000297012 human ensembl 74_37 -1 known silent c.141 p.G47 0.003 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AA HGNC ENSG00000164508 47 0 0 91 9 9 HIST1H2AD 0 genome.wustl.edu 37 6 26199228 26199228 + Nonsense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 26199228 26199228 G A SNP HIST1H2AD ENST00000341023 human ensembl 74_37 -1 known nonsense c.244 p.R82* 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AD HGNC ENSG00000196866 165 0 0 260 30 10.3448 ZSCAN9 0 genome.wustl.edu 37 6 28194987 28194987 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 28194987 28194987 G A SNP ZSCAN9 ENST00000252207 human ensembl 74_37 +1 known missense c.125 p.R42H 0.001 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN9 HGNC ENSG00000137185 66 0 0 125 11 8.08824 ZSCAN9 0 genome.wustl.edu 37 6 28200739 28200739 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 28200739 28200739 C T SNP ZSCAN9 ENST00000252207 human ensembl 74_37 +1 known missense c.968 p.A323V 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 73 0 0 36 111 75.5102 OR2J3 0 genome.wustl.edu 37 6 29079899 29079899 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 29079899 29079899 A G SNP OR2J3 ENST00000377169 human ensembl 74_37 +1 known missense c.232 p.T78A 0.956 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2J3 HGNC ENSG00000204701 332 1 0.3003 187 382 67.1353 RNF39 0 genome.wustl.edu 37 6 30039064 30039064 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 30039064 30039064 G A SNP RNF39 ENST00000244360 human ensembl 74_37 -1 known missense c.1087 p.R363W 0.326 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 RNF39 HGNC ENSG00000204618 16 0 0 28 4 12.5 ABCF1 0 genome.wustl.edu 37 6 30550937 30550937 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 30550937 30550937 C T SNP ABCF1 ENST00000326195 human ensembl 74_37 +1 known missense c.887 p.A296V 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF1 HGNC ENSG00000204574 104 1 0.952381 165 20 10.8108 PPP1R10 0 genome.wustl.edu 37 6 30570116 30570116 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 30570116 30570116 G A SNP PPP1R10 ENST00000376511 human ensembl 74_37 -1 known silent c.2310 p.H770 0.543 NULL pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH - no_errors PPP1R10 HGNC ENSG00000204569 332 1 0.3003 534 87 14.0097 HLA-B 0 genome.wustl.edu 37 6 31324063 31324063 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 31324063 31324063 G A SNP HLA-B ENST00000412585 human ensembl 74_37 -1 known missense c.500 p.T167I 0.023 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog 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-B HGNC ENSG00000234745 35 0 0 62 7 10.1449 LY6G5C 0 genome.wustl.edu 37 6 31644883 31644883 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 31644883 31644883 C T SNP LY6G5C ENST00000383237 human ensembl 74_37 -1 known missense c.304 p.V102I 0.002 NULL NULL - no_errors LY6G5C HGNC ENSG00000204428 121 0 0 65 135 67.5 VARS 0 genome.wustl.edu 37 6 31746992 31746992 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 31746992 31746992 C T SNP VARS ENST00000375663 human ensembl 74_37 -1 known missense c.3478 p.A1160T 0.994 superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Valyl-tRNA_ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Glutathione_S-Trfase_N,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_GST_C,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_tRNA-bd_arm,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS HGNC ENSG00000204394 20 0 0 7 28 80 NELFE 0 genome.wustl.edu 37 6 31922350 31922350 + Nonsense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 31922350 31922350 G A SNP NELFE ENST00000375429 human ensembl 74_37 -1 known nonsense c.724 p.R242* 0.999 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors NELFE HGNC ENSG00000204356 74 0 0 45 92 67.1533 TNXB 0 genome.wustl.edu 37 6 32052313 32052313 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 32052313 32052313 C T SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.3322 p.V1108M 0.886 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_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 42 0 0 22 46 67.6471 SLC22A23 0 genome.wustl.edu 37 6 3273472 3273472 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 3273472 3273472 C T SNP SLC22A23 ENST00000406686 human ensembl 74_37 -1 known silent c.1878 p.L626 1.000 superfamily_MFS_dom_general_subst_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A23 HGNC ENSG00000137266 182 0 0 293 36 10.9422 TAP1 0 genome.wustl.edu 37 6 32813442 32813442 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 32813442 32813442 G A SNP TAP1 ENST00000354258 human ensembl 74_37 -1 known missense c.2341 p.R781W 0.084 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Ag_transporter2 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,prints_ABC_B2,tigrfam_Ag_transporter2 - no_errors TAP1 HGNC ENSG00000168394 75 0 0 115 18 13.5338 SYNGAP1 0 genome.wustl.edu 37 6 33408670 33408670 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 33408670 33408670 A G SNP SYNGAP1 ENST00000418600 human ensembl 74_37 +1 known missense c.1841 p.Y614C 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors SYNGAP1 HGNC ENSG00000197283 72 0 0 111 18 13.9535 ITPR3 0 genome.wustl.edu 37 6 33659477 33659477 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 33659477 33659477 G A SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known silent c.7311 p.S2437 0.000 pfam_Ion_trans_dom 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 75 0 0 48 102 68 GRM4 0 genome.wustl.edu 37 6 33996039 33996039 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 33996039 33996039 C T SNP GRM4 ENST00000374181 human ensembl 74_37 -1 known silent c.2547 p.P849 0.986 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,prints_GPCR_3_mtglu_rcpt_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B - no_errors GRM4 HGNC ENSG00000124493 128 0 0 237 40 14.4404 UHRF1BP1 0 genome.wustl.edu 37 6 34839689 34839689 + Missense_Mutation SNP T T G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 34839689 34839689 T G SNP UHRF1BP1 ENST00000192788 human ensembl 74_37 +1 known missense c.4184 p.V1395G 0.020 NULL NULL - no_errors UHRF1BP1 HGNC ENSG00000065060 34 0 0 64 11 14.6667 SCUBE3 0 genome.wustl.edu 37 6 35213838 35213838 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 35213838 35213838 C T SNP SCUBE3 ENST00000394681 human ensembl 74_37 +1 known missense c.2765 p.A922V 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom 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 250 0 0 438 46 9.50413 ZNF76 0 genome.wustl.edu 37 6 35259393 35259393 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 35259393 35259393 C T SNP ZNF76 ENST00000373953 human ensembl 74_37 +1 known silent c.810 p.N270 0.155 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF76 HGNC ENSG00000065029 89 0 0 163 20 10.929 LHFPL5 0 genome.wustl.edu 37 6 35773519 35773519 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 35773519 35773519 C T SNP LHFPL5 ENST00000360215 human ensembl 74_37 +1 known silent c.72 p.A24 0.837 NULL pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL5 HGNC ENSG00000197753 199 0 0 297 42 12.3894 C6orf89 0 genome.wustl.edu 37 6 36867235 36867235 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 36867235 36867235 C T SNP C6orf89 ENST00000355190 human ensembl 74_37 +1 known silent c.36 p.A12 1.000 NULL NULL - no_errors C6orf89 HGNC ENSG00000198663 108 0 0 194 26 11.8182 DNAH8 0 genome.wustl.edu 37 6 38835886 38835886 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 38835886 38835886 C T SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.6091 p.L2031F 1.000 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 DNAH8 HGNC ENSG00000124721 145 0 0 223 33 12.8906 MOCS1 0 genome.wustl.edu 37 6 39874300 39874300 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 39874300 39874300 G A SNP MOCS1 ENST00000340692 human ensembl 74_37 -1 known missense c.1744 p.R582W 1.000 pfam_Mopterin_CF_biosynth-C_dom,superfamily_Mopterin_CF_biosynth-C_dom,tigrfam_Mo_CF_biosynth-C 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 139 0 0 216 41 15.9533 MOCS1 0 genome.wustl.edu 37 6 39895297 39895297 + Silent SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 39895297 39895297 G T SNP MOCS1 ENST00000373186 human ensembl 74_37 -1 known silent c.21 p.L7 0.000 NULL pfam_Mob_synth_C,pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_MoaA - no_errors MOCS1 HGNC ENSG00000124615 28 0 0 6 22 78.5714 LRFN2 0 genome.wustl.edu 37 6 40400558 40400558 + Missense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 40400558 40400558 G T SNP LRFN2 ENST00000338305 human ensembl 74_37 -1 known missense c.295 p.L99I 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN2 HGNC ENSG00000156564 48 0 0 91 6 6.18557 ECI2 0 genome.wustl.edu 37 6 4133938 4133938 + Nonsense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 4133938 4133938 G A SNP ECI2 ENST00000380118 human ensembl 74_37 -1 known nonsense c.58 p.Q20* 0.747 NULL pfam_Acyl-CoA-binding_protein,pfam_Crotonase_core_superfam,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein - no_errors ECI2 HGNC ENSG00000198721 128 0 0 166 28 14.433 GNMT 0 genome.wustl.edu 37 6 42931280 42931280 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 42931280 42931280 C T SNP GNMT ENST00000372808 human ensembl 74_37 +1 known missense c.724 p.R242W 1.000 pirsf_Gly/Sar_N_MeTrfase pfam_Methyltransf_12,pfam_Methyltransf_11,pirsf_Gly/Sar_N_MeTrfase - no_errors GNMT HGNC ENSG00000124713 84 0 0 73 12 14.1176 CUL9 0 genome.wustl.edu 37 6 43163827 43163827 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 43163827 43163827 C T SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known silent c.2409 p.V803 0.993 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 170 1 0.584795 136 31 18.5629 TTBK1 0 genome.wustl.edu 37 6 43251223 43251223 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 43251223 43251223 C T SNP TTBK1 ENST00000259750 human ensembl 74_37 +1 known silent c.2745 p.G915 0.062 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 TTBK1 HGNC ENSG00000146216 42 0 0 46 16 25.8065 AARS2 0 genome.wustl.edu 37 6 44278802 44278802 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 44278802 44278802 G A SNP AARS2 ENST00000244571 human ensembl 74_37 -1 known silent c.678 p.Y226 1.000 pfam_Ala-tRNA-synth_IIc_N,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc - no_errors AARS2 HGNC ENSG00000124608 158 0 0 109 29 21.0145 TDRD6 0 genome.wustl.edu 37 6 46656982 46656982 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 46656982 46656982 A G SNP TDRD6 ENST00000316081 human ensembl 74_37 +1 known missense c.1117 p.T373A 1.000 pfam_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 133 1 0.746269 66 61 48.0315 GPR116 0 genome.wustl.edu 37 6 46824635 46824635 + Missense_Mutation SNP A A C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 46824635 46824635 A C SNP GPR116 ENST00000265417 human ensembl 74_37 -1 known missense c.3785 p.I1262S 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like - no_errors GPR116 HGNC ENSG00000069122 84 0 0 61 5 7.57576 GPR116 0 genome.wustl.edu 37 6 46851913 46851913 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 46851913 46851913 G A SNP GPR116 ENST00000265417 human ensembl 74_37 -1 known missense c.424 p.R142C 0.000 prints_GPCR_2_Ig-hepta_rcpt pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like - no_errors GPR116 HGNC ENSG00000069122 127 0 0 82 26 24.0741 PKHD1 0 genome.wustl.edu 37 6 51524706 51524706 + Silent SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 51524706 51524706 T C SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known silent c.10218 p.K3406 1.000 NULL pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 93 0 0 56 17 23.2877 PKHD1 0 genome.wustl.edu 37 6 51920455 51920455 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 51920455 51920455 C T SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.1766 p.R589H 0.000 NULL pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 22 0 0 36 3 7.69231 EFHC1 0 genome.wustl.edu 37 6 52355112 52355112 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 52355112 52355112 G A SNP EFHC1 ENST00000371068 human ensembl 74_37 +1 known silent c.1815 p.S605 0.008 pfscan_EF_hand_dom pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_hand_dom - no_errors EFHC1 HGNC ENSG00000096093 133 0 0 56 49 46.6667 DST 0 genome.wustl.edu 37 6 56325048 56325048 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 56325048 56325048 G A SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.22871 p.T7624M 1.000 NULL 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 74 0 0 38 31 44.9275 DST 0 genome.wustl.edu 37 6 56417016 56417016 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 56417016 56417016 G A SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.16481 p.T5494M 1.000 pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin 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 100 0 0 77 25 24.5098 DST 0 genome.wustl.edu 37 6 56483956 56483956 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 56483956 56483956 G A SNP DST ENST00000370765 human ensembl 74_37 -1 known missense c.4876 p.R1626C 0.641 superfamily_Ig/albumin-bd pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DST HGNC ENSG00000151914 275 0 0 192 53 21.6327 F13A1 0 genome.wustl.edu 37 6 6167822 6167822 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 6167822 6167822 C T SNP F13A1 ENST00000264870 human ensembl 74_37 -1 known missense c.1777 p.G593S 0.006 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors F13A1 HGNC ENSG00000124491 39 0 0 86 8 8.51064 LGSN 0 genome.wustl.edu 37 6 63990219 63990219 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 63990219 63990219 T C SNP LGSN ENST00000370657 human ensembl 74_37 -1 known missense c.1237 p.T413A 0.960 pfam_Gln_synth_cat_dom pfam_Gln_synth_cat_dom,pfam_Gln_synt_beta,superfamily_Gln_synt_beta - no_errors LGSN HGNC ENSG00000146166 183 0 0 111 34 23.4483 PTP4A1 0 genome.wustl.edu 37 6 64290032 64290032 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 64290032 64290032 C T SNP PTP4A1 ENST00000370651 human ensembl 74_37 +1 known missense c.475 p.R159C 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Dual-sp_phosphatase_cat-dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors PTP4A1 HGNC ENSG00000112245 197 0 0 132 53 28.6486 LMBRD1 0 genome.wustl.edu 37 6 70423650 70423650 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 70423650 70423650 C T SNP LMBRD1 ENST00000370577 human ensembl 74_37 -1 known missense c.802 p.A268T 0.118 NULL pfam_LMBR1-like_membr_prot - no_errors LMBRD1 HGNC ENSG00000168216 96 0 0 47 39 45.3488 COL9A1 0 genome.wustl.edu 37 6 70964854 70964854 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 70964854 70964854 G A SNP COL9A1 ENST00000357250 human ensembl 74_37 -1 known missense c.1610 p.T537M 0.818 NULL pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL9A1 HGNC ENSG00000112280 216 0 0 107 96 47.2906 RREB1 0 genome.wustl.edu 37 6 7189437 7189437 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 7189437 7189437 G A SNP RREB1 ENST00000379938 human ensembl 74_37 +1 known missense c.307 p.G103R 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 39 0 0 72 12 14.2857 RREB1 0 genome.wustl.edu 37 6 7229901 7229901 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 7229901 7229901 G A SNP RREB1 ENST00000379938 human ensembl 74_37 +1 known silent c.1569 p.T523 0.003 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 146 0 0 295 22 6.94006 RIMS1 0 genome.wustl.edu 37 6 73000541 73000541 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 73000541 73000541 G A SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known silent c.3714 p.A1238 0.999 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 36 0 0 32 14 30.4348 DSP 0 genome.wustl.edu 37 6 7575663 7575663 + Nonsense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 7575663 7575663 G T SNP DSP ENST00000379802 human ensembl 74_37 +1 known nonsense c.2572 p.E858* 1.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 182 1 0.546448 98 204 67.5497 DSP 0 genome.wustl.edu 37 6 7575669 7575669 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 7575669 7575669 G A SNP DSP ENST00000379802 human ensembl 74_37 +1 known missense c.2578 p.V860I 1.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 177 0 0 97 197 67.0068 PHIP 0 genome.wustl.edu 37 6 79787212 79787212 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 79787212 79787212 G A SNP PHIP ENST00000275034 human ensembl 74_37 -1 known missense c.142 p.R48C 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors PHIP HGNC ENSG00000146247 87 0 0 75 15 16.6667 TXNDC5 0 genome.wustl.edu 37 6 8026607 8026607 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 8026607 8026607 C T SNP TXNDC5 ENST00000539054 human ensembl 74_37 -1 known missense c.40 p.E14K 0.999 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase - no_errors TXNDC5 HGNC ENSG00000239264 96 0 0 50 110 68.75 DOPEY1 0 genome.wustl.edu 37 6 83848112 83848112 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 83848112 83848112 A G SNP DOPEY1 ENST00000349129 human ensembl 74_37 +1 known missense c.4351 p.M1451V 1.000 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 240 0 0 122 37 23.2704 SYNCRIP 0 genome.wustl.edu 37 6 86329116 86329116 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 86329116 86329116 C T SNP SYNCRIP ENST00000369622 human ensembl 74_37 -1 known missense c.1028 p.R343H 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,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 81 0 0 38 31 44.9275 ZNF292 0 genome.wustl.edu 37 6 87967789 87967789 + Missense_Mutation SNP G G C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 87967789 87967789 G C SNP ZNF292 ENST00000369577 human ensembl 74_37 +1 known missense c.4442 p.S1481T 0.073 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 67 0 0 20 21 51.2195 SPACA1 0 genome.wustl.edu 37 6 88767395 88767395 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 88767395 88767395 C T SNP SPACA1 ENST00000237201 human ensembl 74_37 +1 known missense c.331 p.R111W 0.301 NULL NULL - no_errors SPACA1 HGNC ENSG00000118434 102 0 0 70 24 25.5319 GABRR2 0 genome.wustl.edu 37 6 89974265 89974265 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 89974265 89974265 C T SNP GABRR2 ENST00000602399 human ensembl 74_37 -1 known missense c.1027 p.V343I 0.998 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_GABAA_rcpt,prints_GABAAa_rho2_rcpt,prints_GABAAa_rho_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRR2 HGNC ENSG00000111886 104 0 0 55 48 46.6019 MDN1 0 genome.wustl.edu 37 6 90368550 90368550 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 90368550 90368550 C T SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.14800 p.E4934K 0.999 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 293 0 0 236 68 22.3684 FAXC 0 genome.wustl.edu 37 6 99771411 99771411 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 99771411 99771411 G A SNP FAXC ENST00000389677 human ensembl 74_37 -1 known silent c.732 p.R244 1.000 superfamily_Glutathione-S-Trfase_C-like superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like - no_errors FAXC HGNC ENSG00000146267 53 0 0 28 21 42.8571 ACTL6B 0 genome.wustl.edu 37 7 100247661 100247661 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 100247661 100247661 G A SNP ACTL6B ENST00000160382 human ensembl 74_37 -1 known missense c.467 p.A156V 1.000 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL6B HGNC ENSG00000077080 41 0 0 38 7 15.5556 EPHB4 0 genome.wustl.edu 37 7 100411288 100411288 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 100411288 100411288 T C SNP EPHB4 ENST00000358173 human ensembl 74_37 -1 known missense c.1742 p.Y581C 1.000 pirsf_Tyr_kinase_ephrin_rcpt 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_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,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 EPHB4 HGNC ENSG00000196411 538 0 0 461 105 18.5512 SLC12A9 0 genome.wustl.edu 37 7 100453339 100453339 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 100453339 100453339 C T SNP SLC12A9 ENST00000354161 human ensembl 74_37 +1 known missense c.328 p.R110C 1.000 pfam_AA-permease/SLC12A_dom pfam_AA-permease/SLC12A_dom - no_errors SLC12A9 HGNC ENSG00000146828 232 0 0 176 34 16.1905 ACHE 0 genome.wustl.edu 37 7 100491048 100491048 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 100491048 100491048 G A SNP ACHE ENST00000302913 human ensembl 74_37 -1 known missense c.806 p.T269M 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors ACHE HGNC ENSG00000087085 42 0 0 20 21 51.2195 MUC17 0 genome.wustl.edu 37 7 100694940 100694940 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 100694940 100694940 G A SNP MUC17 ENST00000379439 human ensembl 74_37 +1 known missense c.12769 p.G4257S 0.000 NULL pfam_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 58 0 0 40 18 31.0345 RELN 0 genome.wustl.edu 37 7 103175866 103175866 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 103175866 103175866 G A SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.7246 p.P2416S 1.000 superfamily_Sialidases pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 71 0 0 47 14 22.9508 DOCK4 0 genome.wustl.edu 37 7 111398724 111398724 + Nonsense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 111398724 111398724 G A SNP DOCK4 ENST00000428084 human ensembl 74_37 -1 known nonsense c.4285 p.R1429* 1.000 pfam_DOCK_C pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 51 0 0 23 19 45.2381 GPER1 0 genome.wustl.edu 37 7 1131734 1131734 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 1131734 1131734 T C SNP GPER1 ENST00000297469 human ensembl 74_37 +1 known missense c.370 p.Y124H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPER1 HGNC ENSG00000164850 109 0 0 136 33 19.5266 THSD7A 0 genome.wustl.edu 37 7 11521425 11521425 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 11521425 11521425 C T SNP THSD7A ENST00000423059 human ensembl 74_37 -1 known silent c.2007 p.A669 0.081 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 87 0 0 61 30 32.967 KCND2 0 genome.wustl.edu 37 7 119915126 119915126 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 119915126 119915126 G A SNP KCND2 ENST00000331113 human ensembl 74_37 +1 known missense c.440 p.R147H 1.000 prints_K_chnl_volt-dep_Kv4 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 157 0 0 84 75 47.1698 PTPRZ1 0 genome.wustl.edu 37 7 121616899 121616899 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 121616899 121616899 C T SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known missense c.613 p.R205C 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 172 0 0 132 34 20.4819 SLC13A1 0 genome.wustl.edu 37 7 122809246 122809246 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 122809246 122809246 A G SNP SLC13A1 ENST00000194130 human ensembl 74_37 -1 known missense c.509 p.M170T 1.000 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A1 HGNC ENSG00000081800 57 0 0 42 19 31.1475 HYAL4 0 genome.wustl.edu 37 7 123516944 123516944 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 123516944 123516944 C T SNP HYAL4 ENST00000223026 human ensembl 74_37 +1 known missense c.1181 p.A394V 0.069 pirsf_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors HYAL4 HGNC ENSG00000106302 130 0 0 49 46 48.4211 POT1 0 genome.wustl.edu 37 7 124493078 124493078 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 124493078 124493078 G A SNP POT1 ENST00000357628 human ensembl 74_37 -1 known missense c.817 p.R273W 1.000 superfamily_NA-bd_OB-fold pfam_Telomer_end-bd_POT1/Cdc13,superfamily_NA-bd_OB-fold,smart_Telomer_end-bd_POT1/Cdc13 - no_errors POT1 HGNC ENSG00000128513 86 0 0 42 16 27.5862 UNCX 0 genome.wustl.edu 37 7 1275553 1275553 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 1275553 1275553 C T SNP UNCX ENST00000316333 human ensembl 74_37 +1 known missense c.536 p.P179L 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors UNCX HGNC ENSG00000164853 20 0 0 19 16 45.7143 CALU 0 genome.wustl.edu 37 7 128394342 128394342 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 128394342 128394342 A G SNP CALU ENST00000479257 human ensembl 74_37 +1 known missense c.272 p.D91G 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CALU HGNC ENSG00000128595 133 0 0 90 24 21.0526 FLNC 0 genome.wustl.edu 37 7 128475589 128475589 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 128475589 128475589 G A SNP FLNC ENST00000325888 human ensembl 74_37 +1 known missense c.562 p.G188S 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 72 0 0 38 35 47.9452 FLNC 0 genome.wustl.edu 37 7 128485030 128485030 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 128485030 128485030 G A SNP FLNC ENST00000325888 human ensembl 74_37 +1 known missense c.3511 p.G1171S 0.906 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 62 0 0 35 14 28.5714 FLNC 0 genome.wustl.edu 37 7 128498535 128498535 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 128498535 128498535 C T SNP FLNC ENST00000325888 human ensembl 74_37 +1 known silent c.8136 p.D2712 0.982 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 52 0 0 16 23 58.9744 PLXNA4 0 genome.wustl.edu 37 7 131908289 131908289 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 131908289 131908289 G A SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known silent c.2094 p.P698 0.898 pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 30 0 0 13 16 55.1724 NUP205 0 genome.wustl.edu 37 7 135302378 135302378 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 135302378 135302378 T C SNP NUP205 ENST00000285968 human ensembl 74_37 +1 known missense c.3719 p.V1240A 0.999 pfam_Nup186/Nup192/Nup205 pfam_Nup186/Nup192/Nup205 - no_errors NUP205 HGNC ENSG00000155561 103 0 0 58 45 43.6893 SLC13A4 0 genome.wustl.edu 37 7 135406244 135406244 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 135406244 135406244 C T SNP SLC13A4 ENST00000354042 human ensembl 74_37 -1 known missense c.127 p.V43M 1.000 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom,pfam_DctM - no_errors SLC13A4 HGNC ENSG00000164707 66 0 0 31 20 39.2157 TRIM24 0 genome.wustl.edu 37 7 138235817 138235817 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 138235817 138235817 C T SNP TRIM24 ENST00000343526 human ensembl 74_37 +1 known missense c.1153 p.R385W 1.000 smart_Bbox_C pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain - no_errors TRIM24 HGNC ENSG00000122779 162 0 0 75 60 44.4444 EPHA1 0 genome.wustl.edu 37 7 143090863 143090863 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 143090863 143090863 T C SNP EPHA1 ENST00000275815 human ensembl 74_37 -1 known missense c.2597 p.D866G 0.998 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 65 0 0 48 43 47.2527 MICALL2 0 genome.wustl.edu 37 7 1474758 1474758 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 1474758 1474758 G A SNP MICALL2 ENST00000297508 human ensembl 74_37 -1 known missense c.2617 p.R873W 0.011 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICALL2 HGNC ENSG00000164877 80 0 0 65 37 36.2745 CNTNAP2 0 genome.wustl.edu 37 7 147926752 147926752 + Nonsense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 147926752 147926752 C T SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known nonsense c.3262 p.R1088* 0.997 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 69 0 0 34 45 56.962 ZNF425 0 genome.wustl.edu 37 7 148801216 148801216 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 148801216 148801216 C T SNP ZNF425 ENST00000378061 human ensembl 74_37 -1 known missense c.1747 p.A583T 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors ZNF425 HGNC ENSG00000204947 105 0 0 54 22 28.9474 REPIN1 0 genome.wustl.edu 37 7 150068868 150068868 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 150068868 150068868 G A SNP REPIN1 ENST00000489432 human ensembl 74_37 +1 known missense c.709 p.G237S 0.989 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors REPIN1 HGNC ENSG00000214022 16 0 0 16 10 38.4615 GIMAP6 0 genome.wustl.edu 37 7 150324881 150324881 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 150324881 150324881 G A SNP GIMAP6 ENST00000328902 human ensembl 74_37 -1 known silent c.805 p.L269 0.000 NULL pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP6 HGNC ENSG00000133561 123 0 0 89 19 17.5926 ABCB8 0 genome.wustl.edu 37 7 150737658 150737658 + Missense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 150737658 150737658 G T SNP ABCB8 ENST00000297504 human ensembl 74_37 +1 known missense c.1376 p.G459V 1.000 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB8 HGNC ENSG00000197150 177 1 0.561798 138 33 19.2982 CHPF2 0 genome.wustl.edu 37 7 150932674 150932674 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 150932674 150932674 C T SNP CHPF2 ENST00000035307 human ensembl 74_37 +1 known silent c.804 p.G268 0.619 pfam_Chond_GalNAc,pfam_Fringe-like pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHPF2 HGNC ENSG00000033100 54 0 0 60 11 15.493 RHEB 0 genome.wustl.edu 37 7 151164247 151164247 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 151164247 151164247 G A SNP RHEB ENST00000262187 human ensembl 74_37 -1 known silent c.513 p.D171 0.968 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHEB HGNC ENSG00000106615 61 0 0 43 24 35.8209 KMT2C 0 genome.wustl.edu 37 7 151880166 151880166 + Nonsense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 151880166 151880166 G A SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known nonsense c.5158 p.Q1720* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 551 0 0 280 200 41.6667 KMT2C 0 genome.wustl.edu 37 7 151896515 151896515 + Missense_Mutation SNP A A T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 151896515 151896515 A T SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.4122 p.D1374E 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 32 0 0 25 5 16.6667 XRCC2 0 genome.wustl.edu 37 7 152346023 152346023 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 152346023 152346023 G A SNP XRCC2 ENST00000359321 human ensembl 74_37 -1 known missense c.547 p.L183F 0.992 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 190 0 0 101 82 44.8087 INTS1 0 genome.wustl.edu 37 7 1539535 1539535 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 1539535 1539535 G A SNP INTS1 ENST00000389470 human ensembl 74_37 -1 known silent c.1053 p.P351 0.294 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 26 0 0 19 5 20.8333 DPP6 0 genome.wustl.edu 37 7 154677391 154677391 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 154677391 154677391 A G SNP DPP6 ENST00000377770 human ensembl 74_37 +1 known missense c.2182 p.N728D 0.416 pfam_Peptidase_S9 pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC ENSG00000130226 10 0 0 7 3 30 NOM1 0 genome.wustl.edu 37 7 156754923 156754923 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 156754923 156754923 G A SNP NOM1 ENST00000275820 human ensembl 74_37 +1 known missense c.1711 p.V571M 0.958 NULL pfam_Initiation_fac_eIF4g_MI,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI - no_errors NOM1 HGNC ENSG00000146909 248 0 0 146 148 50.3401 PTPRN2 0 genome.wustl.edu 37 7 157387999 157387999 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 157387999 157387999 G A SNP PTPRN2 ENST00000404321 human ensembl 74_37 -1 known silent c.2496 p.H832 0.900 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_Receptor_IA-2,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 PTPRN2 HGNC ENSG00000155093 56 0 0 38 33 46.4789 PTPRN2 0 genome.wustl.edu 37 7 158109560 158109560 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 158109560 158109560 G A SNP PTPRN2 ENST00000404321 human ensembl 74_37 -1 known silent c.297 p.P99 0.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,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 PTPRN2 HGNC ENSG00000155093 60 0 0 42 12 22.2222 ESYT2 0 genome.wustl.edu 37 7 158557481 158557481 + Nonsense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 158557481 158557481 C A SNP ESYT2 ENST00000251527 human ensembl 74_37 -1 known nonsense c.1132 p.G378* 1.000 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 151 1 0.657895 128 23 15.2318 ITGB8 0 genome.wustl.edu 37 7 20371470 20371470 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 20371470 20371470 T C SNP ITGB8 ENST00000222573 human ensembl 74_37 +1 known missense c.41 p.V14A 0.897 pirsf_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_EGF_extracell,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB8 HGNC ENSG00000105855 42 0 0 77 11 12.5 ABCB5 0 genome.wustl.edu 37 7 20793028 20793028 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 20793028 20793028 G A SNP ABCB5 ENST00000258738 human ensembl 74_37 +1 known missense c.2140 p.G714S 1.000 pfam_ABC_transporter-like,pfam_ABC_ATPase_put,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 ABCB5 HGNC ENSG00000004846 96 0 0 63 41 39.4231 DNAH11 0 genome.wustl.edu 37 7 21641034 21641034 + Missense_Mutation SNP T T G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 21641034 21641034 T G SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.3446 p.F1149C 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 DNAH11 HGNC ENSG00000105877 59 0 0 49 20 28.9855 DNAH11 0 genome.wustl.edu 37 7 21934560 21934560 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 21934560 21934560 C T SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.13013 p.T4338M 0.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 111 1 0.892857 91 37 28.9062 CHST12 0 genome.wustl.edu 37 7 2472430 2472430 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 2472430 2472430 C T SNP CHST12 ENST00000258711 human ensembl 74_37 +1 known silent c.156 p.P52 0.000 NULL pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors CHST12 HGNC ENSG00000136213 120 0 0 108 69 38.9831 HOXA3 0 genome.wustl.edu 37 7 27149773 27149773 + Nonsense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 27149773 27149773 G A SNP HOXA3 ENST00000317201 human ensembl 74_37 -1 known nonsense c.487 p.R163* 0.994 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXA3 HGNC ENSG00000105997 137 1 0.724638 114 52 31.3253 GARS 0 genome.wustl.edu 37 7 30656804 30656804 + Silent SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 30656804 30656804 T C SNP GARS ENST00000389266 human ensembl 74_37 +1 known silent c.1269 p.S423 1.000 pfam_aa-tRNA-synt_IIb_cons-dom,pfscan_aa-tRNA-synth_II,tigrfam_tRNA-synt_gly pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_WHEP-TRS,superfamily_Anticodon-bd,superfamily_S15_NS1_RNA-bd,prints_tRNA-synt_gly,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_tRNA-synt_gly - no_errors GARS HGNC ENSG00000106105 137 0 0 141 35 19.8864 ADCYAP1R1 0 genome.wustl.edu 37 7 31102893 31102893 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 31102893 31102893 G A SNP ADCYAP1R1 ENST00000304166 human ensembl 74_37 +1 known missense c.13 p.V5M 0.000 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_PACAP_1_rcpt,prints_GPCR_2_secretin-like - no_errors ADCYAP1R1 HGNC ENSG00000078549 51 0 0 46 24 34.2857 KBTBD2 0 genome.wustl.edu 37 7 32909214 32909214 + Nonsense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 32909214 32909214 G A SNP KBTBD2 ENST00000304056 human ensembl 74_37 -1 known nonsense c.1615 p.R539* 1.000 pirsf_Kelch-like_gigaxonin pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD2 HGNC ENSG00000170852 235 1 0.423729 177 116 39.5904 BMPER 0 genome.wustl.edu 37 7 34118650 34118650 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 34118650 34118650 G A SNP BMPER ENST00000297161 human ensembl 74_37 +1 known silent c.1260 p.S420 0.067 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_VWF_C,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_C,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,pfscan_VWF_C - no_errors BMPER HGNC ENSG00000164619 183 0 0 159 87 35.3659 EEPD1 0 genome.wustl.edu 37 7 36338783 36338783 + Nonsense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 36338783 36338783 C T SNP EEPD1 ENST00000242108 human ensembl 74_37 +1 known nonsense c.1678 p.R560* 0.591 superfamily_Endo/exonuclease/phosphatase 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 47 0 0 32 14 30.4348 AOAH 0 genome.wustl.edu 37 7 36671674 36671674 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 36671674 36671674 C T SNP AOAH ENST00000258749 human ensembl 74_37 -1 known silent c.489 p.P163 0.074 NULL pfam_Lipase_GDSL,pfam_SapB_2,superfamily_Saposin-like,smart_SaposinB,pfscan_SaposinB - no_errors AOAH HGNC ENSG00000136250 27 0 0 23 5 17.8571 ELMO1 0 genome.wustl.edu 37 7 37272712 37272712 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 37272712 37272712 C T SNP ELMO1 ENST00000310758 human ensembl 74_37 -1 known silent c.537 p.A179 0.045 pfam_DUF3361,superfamily_ARM-type_fold pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 48 0 0 39 15 27.7778 VPS41 0 genome.wustl.edu 37 7 38803065 38803065 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 38803065 38803065 C T SNP VPS41 ENST00000310301 human ensembl 74_37 -1 known missense c.1412 p.S471N 1.000 pirsf_VPS41 pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_VPS41,pfscan_Znf_RING - no_errors VPS41 HGNC ENSG00000006715 56 0 0 32 6 15.7895 SDK1 0 genome.wustl.edu 37 7 4169722 4169722 + Silent SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 4169722 4169722 A G SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known silent c.4122 p.K1374 0.998 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 67 0 0 56 16 22.2222 GLI3 0 genome.wustl.edu 37 7 42085067 42085067 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 42085067 42085067 G A SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.742 p.R248C 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 139 0 0 97 70 41.9162 C7orf25 0 genome.wustl.edu 37 7 42950466 42950466 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 42950466 42950466 C T SNP C7orf25 ENST00000431882 human ensembl 74_37 -1 known missense c.208 p.A70T 0.810 NULL pfam_DUF1308 - no_errors C7orf25 HGNC ENSG00000136197 169 0 0 176 24 12 URGCP 0 genome.wustl.edu 37 7 43917744 43917744 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 43917744 43917744 G A SNP URGCP ENST00000453200 human ensembl 74_37 -1 known missense c.1318 p.R440W 0.002 NULL superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors URGCP HGNC ENSG00000106608 202 0 0 141 101 41.7355 DBNL 0 genome.wustl.edu 37 7 44098517 44098517 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 44098517 44098517 C T SNP DBNL ENST00000468694 human ensembl 74_37 +1 known missense c.797 p.P266L 0.998 NULL pfam_Actin-bd_cofilin/tropomyosin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Actin-bd_cofilin/tropomyosin,smart_SH3_domain,pfscan_SH3_domain - no_errors DBNL HGNC ENSG00000136279 55 0 0 68 8 10.5263 GCK 0 genome.wustl.edu 37 7 44185241 44185241 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 44185241 44185241 C T SNP GCK ENST00000345378 human ensembl 74_37 -1 known missense c.1111 p.A371T 1.000 pfam_Hexokinase_C,prints_Hexokinase pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors GCK HGNC ENSG00000106633 23 0 0 20 6 23.0769 NPC1L1 0 genome.wustl.edu 37 7 44556853 44556853 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 44556853 44556853 C T SNP NPC1L1 ENST00000289547 human ensembl 74_37 -1 known silent c.3321 p.L1107 1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors NPC1L1 HGNC ENSG00000015520 205 0 0 205 55 21.1538 DDX56 0 genome.wustl.edu 37 7 44607782 44607782 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 44607782 44607782 C T SNP DDX56 ENST00000258772 human ensembl 74_37 -1 known missense c.1424 p.R475Q 1.000 NULL 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,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX56 HGNC ENSG00000136271 50 0 0 45 17 27.4194 MYO1G 0 genome.wustl.edu 37 7 45005749 45005749 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 45005749 45005749 G A SNP MYO1G ENST00000258787 human ensembl 74_37 -1 known missense c.2080 p.R694C 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO1G HGNC ENSG00000136286 47 0 0 38 22 36.6667 SEPT7P2 0 genome.wustl.edu 37 7 45798706 45798706 + RNA SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 45798706 45798706 G A SNP SEPT7P2 ENST00000428414 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SEPT7P2 HGNC ENSG00000214765 210 0 0 83 20 19.4175 TNS3 0 genome.wustl.edu 37 7 47463779 47463779 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 47463779 47463779 G A SNP TNS3 ENST00000311160 human ensembl 74_37 -1 known silent c.393 p.A131 0.685 smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 61 0 0 48 24 33.3333 PKD1L1 0 genome.wustl.edu 37 7 47884594 47884594 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 47884594 47884594 T C SNP PKD1L1 ENST00000289672 human ensembl 74_37 -1 known missense c.5236 p.S1746G 0.645 NULL pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 45 0 0 53 11 17.1875 ABCA13 0 genome.wustl.edu 37 7 48654929 48654929 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 48654929 48654929 C T SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known silent c.14793 p.N4931 0.001 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 8 0 0 3 5 62.5 ZPBP 0 genome.wustl.edu 37 7 50097611 50097611 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 50097611 50097611 C T SNP ZPBP ENST00000046087 human ensembl 74_37 -1 known missense c.461 p.R154H 0.040 pfam_Sp38-bd,pfscan_Ig-like_dom pfam_Sp38-bd,pfscan_Ig-like_dom - no_errors ZPBP HGNC ENSG00000042813 77 0 0 25 22 46.8085 TNRC18 0 genome.wustl.edu 37 7 5391706 5391706 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 5391706 5391706 G A SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known silent c.5214 p.D1738 0.569 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 34 0 0 14 7 33.3333 SEPT14 0 genome.wustl.edu 37 7 55910750 55910750 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 55910750 55910750 C T SNP SEPT14 ENST00000388975 human ensembl 74_37 -1 known missense c.443 p.R148H 1.000 pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT14 HGNC ENSG00000154997 13 0 0 19 8 29.6296 PSPH 0 genome.wustl.edu 37 7 56088813 56088813 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 56088813 56088813 G A SNP PSPH ENST00000275605 human ensembl 74_37 -1 known silent c.93 p.I31 0.997 pfam_HAD-like_dom,pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,tigrfam_SerB,tigrfam_HAD-SF_hydro_IB_PSP-like pfam_HAD-like_dom,pfam_Pyrimidine_nucleotidase_eu,pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,tigrfam_SerB,tigrfam_HAD-SF_hydro_IB_PSP-like - no_errors PSPH HGNC ENSG00000146733 157 0 0 137 32 18.9349 RNF216 0 genome.wustl.edu 37 7 5754755 5754755 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 5754755 5754755 C T SNP RNF216 ENST00000389902 human ensembl 74_37 -1 known missense c.1762 p.A588T 0.989 NULL smart_Znf_C6HC - no_errors RNF216 HGNC ENSG00000011275 297 0 0 248 119 32.4251 AIMP2 0 genome.wustl.edu 37 7 6063069 6063069 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 6063069 6063069 T C SNP AIMP2 ENST00000223029 human ensembl 74_37 +1 known missense c.710 p.V237A 0.999 superfamily_Glutathione-S-Trfase_C-like superfamily_Glutathione-S-Trfase_C-like - no_errors AIMP2 HGNC ENSG00000106305 120 0 0 93 21 18.4211 CYTH3 0 genome.wustl.edu 37 7 6205191 6205191 + Missense_Mutation SNP C C G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 6205191 6205191 C G SNP CYTH3 ENST00000350796 human ensembl 74_37 -1 known missense c.957 p.E319D 0.780 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors CYTH3 HGNC ENSG00000008256 142 0 0 83 60 41.958 CYTH3 0 genome.wustl.edu 37 7 6210221 6210221 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 6210221 6210221 G A SNP CYTH3 ENST00000350796 human ensembl 74_37 -1 known silent c.768 p.N256 0.968 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors CYTH3 HGNC ENSG00000008256 50 0 0 40 26 39.3939 DAGLB 0 genome.wustl.edu 37 7 6449878 6449878 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 6449878 6449878 C T SNP DAGLB ENST00000297056 human ensembl 74_37 -1 known missense c.1703 p.R568H 0.337 NULL pfam_Lipase_3 - no_errors DAGLB HGNC ENSG00000164535 20 0 0 17 12 41.3793 AUTS2 0 genome.wustl.edu 37 7 70255651 70255651 + Missense_Mutation SNP A A T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 70255651 70255651 A T SNP AUTS2 ENST00000342771 human ensembl 74_37 +1 known missense c.3449 p.D1150V 1.000 NULL prints_AUTS2 - no_errors AUTS2 HGNC ENSG00000158321 32 0 0 69 10 12.6582 FKBP6 0 genome.wustl.edu 37 7 72744212 72744212 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 72744212 72744212 A G SNP FKBP6 ENST00000252037 human ensembl 74_37 +1 known missense c.325 p.R109G 1.000 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP6 HGNC ENSG00000077800 49 0 0 57 9 13.6364 WBSCR22 0 genome.wustl.edu 37 7 73098161 73098161 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 73098161 73098161 C T SNP WBSCR22 ENST00000423166 human ensembl 74_37 +1 known missense c.85 p.R29C 0.000 NULL pfam_Methyltransf_11 - no_errors WBSCR22 HGNC ENSG00000071462 142 0 0 103 26 20.155 PMS2P3 0 genome.wustl.edu 37 7 75157077 75157077 + RNA SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 75157077 75157077 C T SNP PMS2P3 ENST00000394921 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors PMS2P3 HGNC ENSG00000127957 8 0 0 7 3 30 STYXL1 0 genome.wustl.edu 37 7 75630223 75630223 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 75630223 75630223 G A SNP STYXL1 ENST00000248600 human ensembl 74_37 -1 known silent c.795 p.N265 0.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors STYXL1 HGNC ENSG00000127952 115 0 0 61 31 33.6957 SEMA3E 0 genome.wustl.edu 37 7 83032029 83032029 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 83032029 83032029 G A SNP SEMA3E ENST00000307792 human ensembl 74_37 -1 known silent c.1062 p.N354 0.999 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 65 0 0 20 19 48.7179 DBF4 0 genome.wustl.edu 37 7 87530094 87530094 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 87530094 87530094 C T SNP DBF4 ENST00000265728 human ensembl 74_37 +1 known silent c.825 p.G275 0.814 NULL pfam_Znf_DBF,superfamily_BRCT_dom,smart_Znf_DBF - no_errors DBF4 HGNC ENSG00000006634 140 0 0 37 41 52.5641 AKAP9 0 genome.wustl.edu 37 7 91732083 91732083 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 91732083 91732083 G A SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known missense c.11285 p.R3762H 0.672 pfam_PACT_domain pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 259 0 0 135 94 41.048 SAMD9 0 genome.wustl.edu 37 7 92731338 92731338 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 92731338 92731338 G A SNP SAMD9 ENST00000379958 human ensembl 74_37 -1 known missense c.4073 p.A1358V 0.007 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 189 0 0 88 87 49.7143 SAMD9L 0 genome.wustl.edu 37 7 92762803 92762803 + Nonsense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 92762803 92762803 G A SNP SAMD9L ENST00000318238 human ensembl 74_37 -1 known nonsense c.2482 p.R828* 0.000 superfamily_P-loop_NTPase superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 139 1 0.714286 53 58 52.2523 SAMD9L 0 genome.wustl.edu 37 7 92765100 92765100 + Missense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 92765100 92765100 C A SNP SAMD9L ENST00000318238 human ensembl 74_37 -1 known missense c.185 p.W62L 0.109 superfamily_SAM/pointed superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 211 0 0 96 80 45.4545 SLC25A13 0 genome.wustl.edu 37 7 95822392 95822392 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 95822392 95822392 C T SNP SLC25A13 ENST00000416240 human ensembl 74_37 -1 known missense c.572 p.R191H 1.000 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A13 HGNC ENSG00000004864 115 0 0 60 44 42.3077 DLX5 0 genome.wustl.edu 37 7 96651486 96651486 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 96651486 96651486 G A SNP DLX5 ENST00000486603 human ensembl 74_37 -1 putative missense c.551 p.A184V 0.000 smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Distal-less_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors DLX5 HGNC ENSG00000105880 103 0 0 110 7 5.98291 TECPR1 0 genome.wustl.edu 37 7 97862157 97862157 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 97862157 97862157 G A SNP TECPR1 ENST00000379795 human ensembl 74_37 -1 known silent c.1803 p.Y601 0.635 NULL pfam_Beta-propeller_rpt_TECPR,superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin - no_errors TECPR1 HGNC ENSG00000205356 25 0 0 10 5 33.3333 TRRAP 0 genome.wustl.edu 37 7 98491440 98491440 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 98491440 98491440 T C SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.386 p.V129A 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 115 0 0 82 17 17.1717 VPS13B 0 genome.wustl.edu 37 8 100790954 100790954 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 100790954 100790954 C T SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.7549 p.P2517S 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 121 0 0 154 50 24.5098 SNX31 0 genome.wustl.edu 37 8 101601120 101601120 + Nonsense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 101601120 101601120 G A SNP SNX31 ENST00000311812 human ensembl 74_37 -1 known nonsense c.1066 p.Q356* 1.000 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX31 HGNC ENSG00000174226 116 0 0 146 45 23.5602 FZD6 0 genome.wustl.edu 37 8 104312357 104312357 + Silent SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 104312357 104312357 T C SNP FZD6 ENST00000358755 human ensembl 74_37 +1 known silent c.22 p.L8 0.009 NULL pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD6 HGNC ENSG00000164930 89 0 0 49 52 51.4851 SOX7 0 genome.wustl.edu 37 8 10583396 10583396 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 10583396 10583396 C T SNP SOX7 ENST00000553390 human ensembl 74_37 -1 known missense c.1175 p.G392D 1.000 pfam_Sox_C_TAD pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_box_dom - no_errors SOX7 HGNC ENSG00000171056 65 0 0 55 29 34.5238 TRHR 0 genome.wustl.edu 37 8 110099797 110099797 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 110099797 110099797 T C SNP TRHR ENST00000311762 human ensembl 74_37 +1 known missense c.56 p.V19A 0.018 prints_TRH_rcpt_1 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_TRH_rcpt_1,prints_GPCR_Rhodpsn - no_errors TRHR HGNC ENSG00000174417 77 0 0 78 31 28.4404 ENY2 0 genome.wustl.edu 37 8 110348379 110348379 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 110348379 110348379 C T SNP ENY2 ENST00000521688 human ensembl 74_37 +1 known missense c.29 p.A10V 1.000 NULL pfam_TF_enhancer_of_yellow_2 - no_errors ENY2 HGNC ENSG00000120533 56 0 0 25 23 47.9167 BLK 0 genome.wustl.edu 37 8 11400821 11400821 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 11400821 11400821 G A SNP BLK ENST00000259089 human ensembl 74_37 +1 known missense c.88 p.A30T 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors BLK HGNC ENSG00000136573 52 0 0 48 24 33.3333 TRPS1 0 genome.wustl.edu 37 8 116599649 116599649 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 116599649 116599649 T C SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known missense c.2279 p.Y760C 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 384 0 0 265 216 44.9064 SLC30A8 0 genome.wustl.edu 37 8 118170074 118170074 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 118170074 118170074 C T SNP SLC30A8 ENST00000456015 human ensembl 74_37 +1 known missense c.563 p.A188V 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A8 HGNC ENSG00000164756 107 0 0 154 17 9.94152 COL14A1 0 genome.wustl.edu 37 8 121262895 121262895 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 121262895 121262895 T C SNP COL14A1 ENST00000297848 human ensembl 74_37 +1 known missense c.2642 p.I881T 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 106 0 0 120 34 22.0779 MTBP 0 genome.wustl.edu 37 8 121463542 121463542 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 121463542 121463542 G A SNP MTBP ENST00000305949 human ensembl 74_37 +1 known silent c.405 p.R135 0.987 NULL NULL - no_errors MTBP HGNC ENSG00000172167 81 0 0 66 30 31.25 MTBP 0 genome.wustl.edu 37 8 121468864 121468864 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 121468864 121468864 A G SNP MTBP ENST00000305949 human ensembl 74_37 +1 known missense c.701 p.D234G 1.000 NULL NULL - no_errors MTBP HGNC ENSG00000172167 178 0 0 114 25 17.9856 MTBP 0 genome.wustl.edu 37 8 121514817 121514817 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 121514817 121514817 G A SNP MTBP ENST00000305949 human ensembl 74_37 +1 known silent c.1695 p.L565 1.000 NULL NULL - no_errors MTBP HGNC ENSG00000172167 47 0 0 24 13 35.1351 ATAD2 0 genome.wustl.edu 37 8 124346170 124346170 + Missense_Mutation SNP C C G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 124346170 124346170 C G SNP ATAD2 ENST00000287394 human ensembl 74_37 -1 known missense c.3426 p.E1142D 0.491 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 127 0 0 137 24 14.9068 FER1L6 0 genome.wustl.edu 37 8 125110039 125110039 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 125110039 125110039 G A SNP FER1L6 ENST00000399018 human ensembl 74_37 +1 known missense c.4798 p.V1600M 0.996 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom - no_errors FER1L6 HGNC ENSG00000214814 91 0 0 106 18 14.5161 ADCY8 0 genome.wustl.edu 37 8 132051764 132051764 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 132051764 132051764 G A SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known silent c.816 p.G272 0.994 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 42 0 0 37 9 19.5652 OC90 0 genome.wustl.edu 37 8 133041402 133041402 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 133041402 133041402 G A SNP OC90 ENST00000443356 human ensembl 74_37 -1 known silent c.1104 p.C368 0.999 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 OC90 Uniprot_gn ENSG00000258417 98 0 0 152 26 14.6067 KCNQ3 0 genome.wustl.edu 37 8 133153429 133153429 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 133153429 133153429 C T SNP KCNQ3 ENST00000388996 human ensembl 74_37 -1 known missense c.1412 p.R471H 1.000 pfam_K_chnl_volt-dep_KCNQ_C,prints_K_chnl_volt-dep_KCNQ3 pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 125 0 0 116 50 30.1205 DLC1 0 genome.wustl.edu 37 8 13356670 13356670 + Missense_Mutation SNP T T G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 13356670 13356670 T G SNP DLC1 ENST00000276297 human ensembl 74_37 -1 known missense c.911 p.N304T 1.000 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 197 0 0 155 73 32.0175 AGO2 0 genome.wustl.edu 37 8 141551427 141551427 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 141551427 141551427 G A SNP AGO2 ENST00000220592 human ensembl 74_37 -1 known missense c.1870 p.R624C 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO2 HGNC ENSG00000123908 26 0 0 52 6 10.3448 PTP4A3 0 genome.wustl.edu 37 8 142432427 142432427 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 142432427 142432427 G A SNP PTP4A3 ENST00000329397 human ensembl 74_37 +1 known silent c.87 p.T29 0.935 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Dual-sp_phosphatase_cat-dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors PTP4A3 HGNC ENSG00000184489 158 0 0 166 65 28.1385 CYP11B1 0 genome.wustl.edu 37 8 143956469 143956469 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 143956469 143956469 G A SNP CYP11B1 ENST00000292427 human ensembl 74_37 -1 known silent c.1302 p.S434 0.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450 - no_errors CYP11B1 HGNC ENSG00000160882 131 0 0 143 54 27.4112 EPPK1 0 genome.wustl.edu 37 8 144945811 144945811 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 144945811 144945811 G A SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known silent c.1611 p.S537 0.000 NULL pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 15 0 0 12 4 25 PLEC 0 genome.wustl.edu 37 8 144994535 144994535 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 144994535 144994535 C T SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.9865 p.V3289M 0.796 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 18 0 0 13 14 51.8519 PARP10 0 genome.wustl.edu 37 8 145059213 145059213 + Silent SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 145059213 145059213 A G SNP PARP10 ENST00000313028 human ensembl 74_37 -1 known silent c.957 p.I319 0.001 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP10 HGNC ENSG00000178685 123 0 0 94 40 29.8507 FAM203A 0 genome.wustl.edu 37 8 145193655 145193655 + Silent SNP T T A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 145193655 145193655 T A SNP FAM203A ENST00000347708 human ensembl 74_37 +1 known silent c.732 p.I244 0.999 pfam_FAM203_N,superfamily_ARM-type_fold pfam_FAM203_N,pfam_FAM203_C,superfamily_ARM-type_fold - no_errors FAM203A HGNC ENSG00000235173 23 0 0 29 16 35.5556 MROH1 0 genome.wustl.edu 37 8 145267944 145267944 + Nonsense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 145267944 145267944 C T SNP MROH1 ENST00000423230 human ensembl 74_37 +1 known nonsense c.1189 p.R397* 0.002 NULL superfamily_ARM-type_fold - no_errors MROH1 HGNC ENSG00000179832 108 1 0.917431 81 68 45.6376 HSF1 0 genome.wustl.edu 37 8 145535772 145535772 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 145535772 145535772 C T SNP HSF1 ENST00000528838 human ensembl 74_37 +1 known silent c.984 p.T328 0.001 pfam_Vert_HSTF_C pfam_Vert_HSTF_C,pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd - no_errors HSF1 HGNC ENSG00000185122 48 0 0 27 34 55.7377 RECQL4 0 genome.wustl.edu 37 8 145737619 145737619 + Missense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 145737619 145737619 C A SNP RECQL4 ENST00000428558 human ensembl 74_37 -1 known missense c.3144 p.K1048N 0.922 NULL pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DNA_rep_checkpnt_protein,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL4 HGNC ENSG00000160957 27 0 0 38 15 28.3019 TUSC3 0 genome.wustl.edu 37 8 15519671 15519671 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 15519671 15519671 G A SNP TUSC3 ENST00000503731 human ensembl 74_37 +1 known missense c.574 p.V192I 1.000 pfam_OligosaccharylTrfase_OST3/OST6 pfam_OligosaccharylTrfase_OST3/OST6,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TUSC3 HGNC ENSG00000104723 182 0 0 171 30 14.9254 NAT2 0 genome.wustl.edu 37 8 18258091 18258091 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 18258091 18258091 C T SNP NAT2 ENST00000286479 human ensembl 74_37 +1 known missense c.578 p.T193M 0.998 pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase - no_errors NAT2 HGNC ENSG00000156006 174 0 0 115 65 36.1111 ARHGEF10 0 genome.wustl.edu 37 8 1833852 1833852 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 1833852 1833852 C T SNP ARHGEF10 ENST00000398564 human ensembl 74_37 +1 known silent c.1236 p.P412 0.005 superfamily_DH-domain pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10 HGNC ENSG00000104728 76 0 0 71 18 20.2247 PSD3 0 genome.wustl.edu 37 8 18393319 18393319 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 18393319 18393319 C T SNP PSD3 ENST00000440756 human ensembl 74_37 -1 known silent c.3084 p.K1028 1.000 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors PSD3 HGNC ENSG00000156011 179 0 0 133 65 32.8283 ARHGEF10 0 genome.wustl.edu 37 8 1851509 1851509 + Silent SNP A A C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 1851509 1851509 A C SNP ARHGEF10 ENST00000398564 human ensembl 74_37 +1 known silent c.1788 p.T596 0.950 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10 HGNC ENSG00000104728 174 1 0.571429 122 158 56.4286 ARHGEF10 0 genome.wustl.edu 37 8 1853833 1853833 + Nonsense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 1853833 1853833 C T SNP ARHGEF10 ENST00000398564 human ensembl 74_37 +1 known nonsense c.1993 p.R665* 1.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10 HGNC ENSG00000104728 159 0 0 158 55 25.8216 CSGALNACT1 0 genome.wustl.edu 37 8 19362790 19362790 + Missense_Mutation SNP A A C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 19362790 19362790 A C SNP CSGALNACT1 ENST00000311540 human ensembl 74_37 -1 known missense c.556 p.S186A 0.001 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CSGALNACT1 HGNC ENSG00000147408 106 0 0 113 20 15.0376 MYOM2 0 genome.wustl.edu 37 8 2005590 2005590 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 2005590 2005590 G A SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known missense c.388 p.A130T 0.000 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM2 HGNC ENSG00000036448 38 0 0 35 11 23.913 LZTS1 0 genome.wustl.edu 37 8 20110932 20110932 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 20110932 20110932 C T SNP LZTS1 ENST00000265801 human ensembl 74_37 -1 known silent c.510 p.A170 0.013 NULL NULL - no_errors LZTS1 HGNC ENSG00000061337 53 0 0 31 16 34.0426 GFRA2 0 genome.wustl.edu 37 8 21608314 21608314 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 21608314 21608314 G A SNP GFRA2 ENST00000517328 human ensembl 74_37 -1 known missense c.580 p.R194C 0.997 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_a2 - no_errors GFRA2 HGNC ENSG00000168546 84 0 0 84 50 37.3134 HR 0 genome.wustl.edu 37 8 21973889 21973889 + Missense_Mutation SNP T T G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 21973889 21973889 T G SNP HR ENST00000381418 human ensembl 74_37 -1 known missense c.3431 p.E1144A 0.999 smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors HR HGNC ENSG00000168453 38 0 0 41 8 16.3265 LOXL2 0 genome.wustl.edu 37 8 23198655 23198655 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 23198655 23198655 C T SNP LOXL2 ENST00000389131 human ensembl 74_37 -1 known missense c.593 p.R198H 0.998 superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR - no_errors LOXL2 HGNC ENSG00000134013 158 0 0 120 81 40.2985 ENTPD4 0 genome.wustl.edu 37 8 23290530 23290530 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 23290530 23290530 C T SNP ENTPD4 ENST00000358689 human ensembl 74_37 -1 known missense c.1760 p.R587H 1.000 NULL pfam_GDA1_CD39_NTPase - no_errors ENTPD4 HGNC ENSG00000197217 63 0 0 45 28 38.3562 ADAMDEC1 0 genome.wustl.edu 37 8 24256906 24256906 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 24256906 24256906 C T SNP ADAMDEC1 ENST00000256412 human ensembl 74_37 +1 known silent c.930 p.S310 0.995 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAMDEC1 HGNC ENSG00000134028 152 0 0 119 62 34.2541 DOCK5 0 genome.wustl.edu 37 8 25181376 25181376 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 25181376 25181376 C T SNP DOCK5 ENST00000276440 human ensembl 74_37 +1 known missense c.1628 p.S543L 1.000 NULL pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK5 HGNC ENSG00000147459 28 0 0 23 14 37.8378 ADRA1A 0 genome.wustl.edu 37 8 26627853 26627853 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 26627853 26627853 C T SNP ADRA1A ENST00000380586 human ensembl 74_37 -1 known missense c.1214 p.R405H 0.855 prints_ADRA1A_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA1A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA1A HGNC ENSG00000120907 151 0 0 113 67 37.2222 STMN4 0 genome.wustl.edu 37 8 27098744 27098744 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 27098744 27098744 C T SNP STMN4 ENST00000350889 human ensembl 74_37 -1 known missense c.226 p.D76N 1.000 pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam - no_errors STMN4 HGNC ENSG00000015592 124 0 0 86 60 41.0959 CSMD1 0 genome.wustl.edu 37 8 2813159 2813159 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 2813159 2813159 T C SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.9949 p.T3317A 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 92 0 0 100 45 31.0345 CSMD1 0 genome.wustl.edu 37 8 2820881 2820881 + Missense_Mutation SNP C C G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 2820881 2820881 C G SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.9320 p.G3107A 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 254 0 0 233 200 46.1894 EXTL3 0 genome.wustl.edu 37 8 28575713 28575713 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 28575713 28575713 G A SNP EXTL3 ENST00000220562 human ensembl 74_37 +1 known missense c.2137 p.V713I 1.000 pfam_HexNAc_Trfase_a pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXTL3 HGNC ENSG00000012232 125 0 0 112 35 23.8095 LEPROTL1 0 genome.wustl.edu 37 8 29963354 29963354 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 29963354 29963354 C T SNP LEPROTL1 ENST00000321250 human ensembl 74_37 +1 known silent c.372 p.D124 0.973 pfam_VPS55 pfam_VPS55 - no_errors LEPROTL1 HGNC ENSG00000104660 206 0 0 177 65 26.8595 CSMD1 0 genome.wustl.edu 37 8 3009015 3009015 + Missense_Mutation SNP T T G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 3009015 3009015 T G SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.5938 p.S1980R 0.000 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 32 0 0 52 6 10.3448 TEX15 0 genome.wustl.edu 37 8 30701385 30701385 + Nonsense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 30701385 30701385 G A SNP TEX15 ENST00000256246 human ensembl 74_37 -1 known nonsense c.5149 p.R1717* 1.000 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 114 0 0 99 37 27.2059 RNF122 0 genome.wustl.edu 37 8 33406951 33406951 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 33406951 33406951 C T SNP RNF122 ENST00000256257 human ensembl 74_37 -1 known silent c.330 p.P110 0.130 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF122 HGNC ENSG00000133874 101 0 0 88 37 29.6 GPR124 0 genome.wustl.edu 37 8 37688966 37688966 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 37688966 37688966 G A SNP GPR124 ENST00000412232 human ensembl 74_37 +1 known missense c.958 p.V320M 0.995 smart_Ig_sub,pfscan_Ig-like_dom pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR124 HGNC ENSG00000020181 58 0 0 35 38 52.0548 WHSC1L1 0 genome.wustl.edu 37 8 38156990 38156990 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 38156990 38156990 C T SNP WHSC1L1 ENST00000317025 human ensembl 74_37 -1 known silent c.2730 p.S910 1.000 superfamily_Znf_FYVE_PHD pfam_PWWP_dom,pfam_SET_dom,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors WHSC1L1 HGNC ENSG00000147548 89 0 0 56 19 25.3333 FGFR1 0 genome.wustl.edu 37 8 38272143 38272143 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 38272143 38272143 C T SNP FGFR1 ENST00000425967 human ensembl 74_37 -1 known missense c.2075 p.R692Q 1.000 pirsf_FGF_rcpt_fam,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_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 FGFR1 HGNC ENSG00000077782 95 0 0 68 38 35.8491 ADAM32 0 genome.wustl.edu 37 8 39089551 39089551 + Silent SNP A A C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 39089551 39089551 A C SNP ADAM32 ENST00000379907 human ensembl 74_37 +1 known silent c.1531 p.R511 0.592 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich 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 - no_errors ADAM32 HGNC ENSG00000197140 100 0 0 73 35 32.4074 SLC20A2 0 genome.wustl.edu 37 8 42294885 42294885 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 42294885 42294885 C T SNP SLC20A2 ENST00000342228 human ensembl 74_37 -1 known missense c.1145 p.R382Q 0.999 pfam_Phos_transporter pfam_Phos_transporter - no_errors SLC20A2 HGNC ENSG00000168575 115 0 0 89 75 45.7317 POMK 0 genome.wustl.edu 37 8 42977375 42977375 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 42977375 42977375 G A SNP POMK ENST00000331373 human ensembl 74_37 +1 known silent c.408 p.T136 0.437 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom - no_errors POMK HGNC ENSG00000185900 122 0 0 77 46 37.3984 SPIDR 0 genome.wustl.edu 37 8 48352956 48352956 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 48352956 48352956 T C SNP SPIDR ENST00000297423 human ensembl 74_37 +1 known missense c.949 p.C317R 0.998 NULL NULL - no_errors SPIDR HGNC ENSG00000164808 85 0 0 120 37 23.5669 PRKDC 0 genome.wustl.edu 37 8 48696325 48696325 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 48696325 48696325 C T SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known missense c.11150 p.R3717Q 0.966 superfamily_Kinase-like_dom pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,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 PRKDC HGNC ENSG00000253729 45 0 0 68 22 24.4444 MCM4 0 genome.wustl.edu 37 8 48878898 48878898 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 48878898 48878898 C T SNP MCM4 ENST00000262105 human ensembl 74_37 +1 known silent c.984 p.C328 0.013 superfamily_NA-bd_OB-fold,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_4,prints_MCM_DNA-dep_ATPase - no_errors MCM4 HGNC ENSG00000104738 34 0 0 34 12 26.087 SNAI2 0 genome.wustl.edu 37 8 49832962 49832962 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 49832962 49832962 G A SNP SNAI2 ENST00000020945 human ensembl 74_37 -1 known missense c.118 p.P40S 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI2 HGNC ENSG00000019549 255 0 0 354 41 10.3797 ATP6V1H 0 genome.wustl.edu 37 8 54656163 54656163 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 54656163 54656163 G A SNP ATP6V1H ENST00000359530 human ensembl 74_37 -1 known silent c.1365 p.A455 0.433 pfam_ATPase_V1-cplx_hsu_C,superfamily_ARM-type_fold,pirsf_ATPase_V1-cplx_hsu pfam_ATPase_V1-cplx_hsu,pfam_ATPase_V1-cplx_hsu_C,superfamily_ARM-type_fold,pirsf_ATPase_V1-cplx_hsu - no_errors ATP6V1H HGNC ENSG00000047249 49 0 0 31 35 53.0303 SOX17 0 genome.wustl.edu 37 8 55370926 55370926 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 55370926 55370926 G A SNP SOX17 ENST00000297316 human ensembl 74_37 +1 known missense c.228 p.M76I 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom 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 41 0 0 60 23 27.7108 SDR16C5 0 genome.wustl.edu 37 8 57228626 57228626 + Missense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 57228626 57228626 G T SNP SDR16C5 ENST00000303749 human ensembl 74_37 -1 known missense c.281 p.A94D 0.761 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors SDR16C5 HGNC ENSG00000170786 174 0 0 290 34 10.4938 IMPAD1 0 genome.wustl.edu 37 8 57878873 57878873 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 57878873 57878873 G A SNP IMPAD1 ENST00000262644 human ensembl 74_37 -1 known missense c.685 p.R229C 1.000 pfam_Inositol_monophosphatase pfam_Inositol_monophosphatase - no_errors IMPAD1 HGNC ENSG00000104331 97 0 0 133 52 28.1081 CYP7A1 0 genome.wustl.edu 37 8 59409213 59409213 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 59409213 59409213 C T SNP CYP7A1 ENST00000301645 human ensembl 74_37 -1 known silent c.858 p.S286 0.009 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors CYP7A1 HGNC ENSG00000167910 197 0 0 222 76 25.5034 CHD7 0 genome.wustl.edu 37 8 61757467 61757467 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 61757467 61757467 G A SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known missense c.4895 p.R1632H 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 80 0 0 66 48 42.1053 ARMC1 0 genome.wustl.edu 37 8 66516786 66516786 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 66516786 66516786 A G SNP ARMC1 ENST00000276569 human ensembl 74_37 -1 known missense c.692 p.V231A 1.000 pirsf_UCP013899_metal-bd pfam_Armadillo,superfamily_ARM-type_fold,superfamily_HeavyMe-assoc_HMA,pirsf_UCP013899_metal-bd - no_errors ARMC1 HGNC ENSG00000104442 60 0 0 64 27 29.6703 SGK3 0 genome.wustl.edu 37 8 67753312 67753312 + Silent SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 67753312 67753312 T C SNP SGK3 ENST00000345714 human ensembl 74_37 +1 known silent c.945 p.S315 0.997 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Phox,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Phox,pfscan_Prot_kinase_dom - no_errors SGK3 HGNC ENSG00000104205 105 0 0 120 20 14.2857 COPS5 0 genome.wustl.edu 37 8 67969636 67969636 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 67969636 67969636 G A SNP COPS5 ENST00000357849 human ensembl 74_37 -1 known silent c.552 p.G184 0.025 smart_JAB_MPN_dom pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors COPS5 HGNC ENSG00000121022 102 0 0 69 70 50.3597 ARFGEF1 0 genome.wustl.edu 37 8 68152512 68152512 + Missense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 68152512 68152512 G T SNP ARFGEF1 ENST00000262215 human ensembl 74_37 -1 known missense c.2864 p.P955H 1.000 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF1 HGNC ENSG00000066777 85 0 0 57 22 27.8481 C8orf34 0 genome.wustl.edu 37 8 69351764 69351764 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 69351764 69351764 C T SNP C8orf34 ENST00000518698 human ensembl 74_37 +1 known missense c.358 p.P120S 1.000 superfamily_cAMP_dep_PK_reg_su_I/II_a/b superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C8orf34 HGNC ENSG00000165084 65 0 0 47 22 31.8841 SLCO5A1 0 genome.wustl.edu 37 8 70744209 70744209 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 70744209 70744209 C T SNP SLCO5A1 ENST00000260126 human ensembl 74_37 -1 known missense c.700 p.D234N 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 78 0 0 90 13 12.6214 NCOA2 0 genome.wustl.edu 37 8 71037039 71037039 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 71037039 71037039 C T SNP NCOA2 ENST00000452400 human ensembl 74_37 -1 known missense c.3978 p.M1326I 1.000 pfam_DUF1518,pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA2 HGNC ENSG00000140396 108 0 0 101 14 12.1739 NCOA2 0 genome.wustl.edu 37 8 71068415 71068415 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 71068415 71068415 T C SNP NCOA2 ENST00000452400 human ensembl 74_37 -1 known missense c.2185 p.T729A 1.000 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA2 HGNC ENSG00000140396 126 0 0 104 44 29.7297 LOC100132891 0 genome.wustl.edu 37 8 72755775 72755775 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 72755775 72755775 C T SNP LOC100132891 ENST00000537896 human ensembl 74_37 +1 known missense c.139 p.H47Y 0.000 NULL NULL - no_errors RP11-383H13.1 Clone_based_vega_gene ENSG00000235531 13 0 0 14 5 26.3158 PAG1 0 genome.wustl.edu 37 8 81897572 81897572 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 81897572 81897572 G A SNP PAG1 ENST00000220597 human ensembl 74_37 -1 known silent c.315 p.Y105 0.633 NULL NULL - no_errors PAG1 HGNC ENSG00000076641 46 0 0 48 11 18.6441 LRRCC1 0 genome.wustl.edu 37 8 86044119 86044119 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 86044119 86044119 G A SNP LRRCC1 ENST00000360375 human ensembl 74_37 +1 known missense c.1891 p.V631M 0.000 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin - no_errors LRRCC1 HGNC ENSG00000133739 92 0 0 68 33 32.6733 OSGIN2 0 genome.wustl.edu 37 8 90937477 90937477 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 90937477 90937477 T C SNP OSGIN2 ENST00000451899 human ensembl 74_37 +1 known missense c.1367 p.L456S 0.999 NULL NULL - no_errors OSGIN2 HGNC ENSG00000164823 219 0 0 140 111 44.2231 CALB1 0 genome.wustl.edu 37 8 91072926 91072926 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 91072926 91072926 G A SNP CALB1 ENST00000265431 human ensembl 74_37 -1 known silent c.603 p.D201 1.000 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CALB1 HGNC ENSG00000104327 228 0 0 190 79 29.368 RBM12B 0 genome.wustl.edu 37 8 94746632 94746632 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 94746632 94746632 C T SNP RBM12B ENST00000399300 human ensembl 74_37 -1 known silent c.2007 p.R669 0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12B HGNC ENSG00000183808 225 1 0.442478 229 92 28.6604 TMEM67 0 genome.wustl.edu 37 8 94798500 94798500 + Missense_Mutation SNP T T G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 94798500 94798500 T G SNP TMEM67 ENST00000453321 human ensembl 74_37 +1 known missense c.1338 p.D446E 0.980 pfam_Meckelin pfam_Meckelin,superfamily_Growth_fac_rcpt_N_dom - no_errors TMEM67 HGNC ENSG00000164953 128 0 0 141 27 16.0714 POP1 0 genome.wustl.edu 37 8 99168279 99168279 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 99168279 99168279 C T SNP POP1 ENST00000349693 human ensembl 74_37 +1 known missense c.2059 p.R687C 1.000 pfam_POPLD pfam_RNase_P/MRP_POP1,pfam_POPLD - no_errors POP1 HGNC ENSG00000104356 252 1 0.395257 258 72 21.8182 TMOD1 0 genome.wustl.edu 37 9 100328204 100328204 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 100328204 100328204 C T SNP TMOD1 ENST00000259365 human ensembl 74_37 +1 known silent c.693 p.I231 0.928 NULL pfam_Tropomodulin - no_errors TMOD1 HGNC ENSG00000136842 212 0 0 100 78 43.8202 C9orf156 0 genome.wustl.edu 37 9 100667176 100667176 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 100667176 100667176 G A SNP C9orf156 ENST00000375119 human ensembl 74_37 -1 known missense c.1165 p.R389W 0.977 superfamily_UPF0066_YaeB pfam_UPF0066,superfamily_UPF0066_YaeB,tigrfam_UPF0066 - no_errors C9orf156 HGNC ENSG00000136932 91 0 0 52 44 45.8333 GABBR2 0 genome.wustl.edu 37 9 101065539 101065539 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 101065539 101065539 C T SNP GABBR2 ENST00000259455 human ensembl 74_37 -1 known missense c.2396 p.R799Q 0.992 prints_GPCR_3_GABA_rcpt_B2 pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3,pfscan_GPCR_3_C - no_errors GABBR2 HGNC ENSG00000136928 58 0 0 27 30 52.6316 NIPSNAP3B 0 genome.wustl.edu 37 9 107528697 107528697 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 107528697 107528697 C T SNP NIPSNAP3B ENST00000374762 human ensembl 74_37 +1 known missense c.152 p.A51V 0.995 pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel - no_errors NIPSNAP3B HGNC ENSG00000165028 210 0 0 80 67 45.5782 SLC44A1 0 genome.wustl.edu 37 9 108126837 108126837 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 108126837 108126837 C T SNP SLC44A1 ENST00000374720 human ensembl 74_37 +1 known silent c.1089 p.G363 0.998 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A1 HGNC ENSG00000070214 263 0 0 194 45 18.8285 KLF4 0 genome.wustl.edu 37 9 110250404 110250404 + Missense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 110250404 110250404 G T SNP KLF4 ENST00000374672 human ensembl 74_37 -1 known missense c.271 p.L91I 0.900 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF4 HGNC ENSG00000136826 47 0 0 50 13 20.6349 PTPN3 0 genome.wustl.edu 37 9 112200417 112200417 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 112200417 112200417 G A SNP PTPN3 ENST00000374541 human ensembl 74_37 -1 known silent c.564 p.V188 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_PDZ,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN3 HGNC ENSG00000070159 108 0 0 110 27 19.708 MUSK 0 genome.wustl.edu 37 9 113562945 113562945 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 113562945 113562945 G A SNP MUSK ENST00000374448 human ensembl 74_37 +1 known missense c.2287 p.A763T 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_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 181 0 0 125 47 27.3256 PRPF4 0 genome.wustl.edu 37 9 116041300 116041300 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 116041300 116041300 G A SNP PRPF4 ENST00000374198 human ensembl 74_37 +1 known missense c.284 p.R95Q 1.000 NULL pfam_WD40_repeat,pfam_PRP4-like,superfamily_WD40_repeat_dom,smart_SFM,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PRPF4 HGNC ENSG00000136875 122 0 0 55 42 43.299 ORM1 0 genome.wustl.edu 37 9 117087171 117087171 + Missense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 117087171 117087171 G T SNP ORM1 ENST00000259396 human ensembl 74_37 +1 known missense c.430 p.V144F 0.031 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,pirsf_A1A_glycop,prints_A1A_glycop pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,pirsf_A1A_glycop,prints_A1A_glycop - no_errors ORM1 HGNC ENSG00000229314 55 0 0 42 10 19.2308 ORM2 0 genome.wustl.edu 37 9 117093866 117093866 + Silent SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 117093866 117093866 T C SNP ORM2 ENST00000431067 human ensembl 74_37 +1 known silent c.348 p.V116 0.000 pfam_Lipocln_cytosolic_FA-bd_dom,pfam_ApoM,superfamily_Calycin-like,pirsf_A1A_glycop pfam_Lipocln_cytosolic_FA-bd_dom,pfam_ApoM,superfamily_Calycin-like,pirsf_A1A_glycop,prints_A1A_glycop - no_errors ORM2 HGNC ENSG00000228278 103 0 0 126 13 9.35252 AKNA 0 genome.wustl.edu 37 9 117143549 117143549 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 117143549 117143549 C T SNP AKNA ENST00000307564 human ensembl 74_37 -1 known missense c.65 p.R22Q 1.000 NULL pfam_TF_AT-hook - no_errors AKNA HGNC ENSG00000106948 28 0 0 17 4 19.0476 DFNB31 0 genome.wustl.edu 37 9 117188531 117188531 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 117188531 117188531 C T SNP DFNB31 ENST00000362057 human ensembl 74_37 -1 known missense c.1126 p.A376T 0.989 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors DFNB31 HGNC ENSG00000095397 59 0 0 53 14 20.8955 BRINP1 0 genome.wustl.edu 37 9 121971060 121971060 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 121971060 121971060 C T SNP BRINP1 ENST00000265922 human ensembl 74_37 -1 known missense c.1082 p.R361H 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP1 HGNC ENSG00000078725 87 0 0 60 18 23.0769 CNTRL 0 genome.wustl.edu 37 9 123922460 123922460 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 123922460 123922460 G A SNP CNTRL ENST00000238341 human ensembl 74_37 +1 known missense c.4969 p.G1657R 1.000 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 91 0 0 35 30 46.1538 OR1Q1 0 genome.wustl.edu 37 9 125377645 125377645 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 125377645 125377645 C T SNP OR1Q1 ENST00000297913 human ensembl 74_37 +1 known missense c.629 p.A210V 0.032 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1Q1 HGNC ENSG00000165202 165 0 0 111 27 19.5652 OR1B1 0 genome.wustl.edu 37 9 125391435 125391435 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 125391435 125391435 G A SNP OR1B1 ENST00000304833 human ensembl 74_37 -1 known missense c.380 p.A127V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1B1 HGNC ENSG00000171484 56 0 0 31 13 29.5455 CRB2 0 genome.wustl.edu 37 9 126132598 126132598 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 126132598 126132598 C T SNP CRB2 ENST00000373631 human ensembl 74_37 +1 known silent c.1266 p.Y422 0.001 superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB2 HGNC ENSG00000148204 60 0 0 20 26 56.5217 DENND1A 0 genome.wustl.edu 37 9 126144339 126144339 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 126144339 126144339 C T SNP DENND1A ENST00000394219 human ensembl 74_37 -1 known missense c.2435 p.R812H 0.001 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1A HGNC ENSG00000119522 11 0 0 5 9 64.2857 DENND1A 0 genome.wustl.edu 37 9 126145997 126145997 + Missense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 126145997 126145997 C A SNP DENND1A ENST00000394219 human ensembl 74_37 -1 known missense c.1806 p.K602N 0.996 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1A HGNC ENSG00000119522 150 0 0 125 40 24.2424 ARPC5L 0 genome.wustl.edu 37 9 127637424 127637424 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 127637424 127637424 C T SNP ARPC5L ENST00000259477 human ensembl 74_37 +1 known silent c.393 p.H131 0.999 pfam_ARP2/3_p16_Arc,superfamily_ARP2/3_p16_Arc pfam_ARP2/3_p16_Arc,superfamily_ARP2/3_p16_Arc - no_errors ARPC5L HGNC ENSG00000136950 49 0 0 30 28 48.2759 ANGPTL2 0 genome.wustl.edu 37 9 129870758 129870758 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 129870758 129870758 G A SNP ANGPTL2 ENST00000373425 human ensembl 74_37 -1 known missense c.253 p.H85Y 1.000 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPTL2 HGNC ENSG00000136859 55 0 0 32 13 28.8889 GARNL3 0 genome.wustl.edu 37 9 130155448 130155448 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 130155448 130155448 C T SNP GARNL3 ENST00000373387 human ensembl 74_37 +1 known missense c.2957 p.A986V 0.001 NULL pfam_Citron,pfam_Rap_GAP_dom,smart_Citron,pfscan_Rap_GAP_dom - no_errors GARNL3 HGNC ENSG00000136895 126 0 0 87 72 45.283 FAM129B 0 genome.wustl.edu 37 9 130270248 130270248 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 130270248 130270248 G A SNP FAM129B ENST00000373312 human ensembl 74_37 -1 known missense c.1552 p.R518W 0.993 NULL pfscan_Pleckstrin_homology - no_errors FAM129B HGNC ENSG00000136830 119 0 0 67 64 48.855 STXBP1 0 genome.wustl.edu 37 9 130438095 130438095 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 130438095 130438095 G A SNP STXBP1 ENST00000373299 human ensembl 74_37 +1 known missense c.1123 p.G375S 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP1 HGNC ENSG00000136854 30 0 0 22 9 29.0323 GOLGA2 0 genome.wustl.edu 37 9 131022430 131022430 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 131022430 131022430 C T SNP GOLGA2 ENST00000421699 human ensembl 74_37 -1 known silent c.1716 p.S572 0.045 NULL superfamily_CofA_tubulin-bd - no_errors GOLGA2 HGNC ENSG00000167110 167 0 0 68 70 50.7246 GOLGA2 0 genome.wustl.edu 37 9 131022431 131022431 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 131022431 131022431 G A SNP GOLGA2 ENST00000421699 human ensembl 74_37 -1 known missense c.1715 p.S572L 0.991 NULL superfamily_CofA_tubulin-bd - no_errors GOLGA2 HGNC ENSG00000167110 162 0 0 112 28 20 SLC27A4 0 genome.wustl.edu 37 9 131105564 131105564 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 131105564 131105564 C T SNP SLC27A4 ENST00000300456 human ensembl 74_37 +1 known silent c.153 p.R51 0.061 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A4 HGNC ENSG00000167114 46 0 0 39 7 15.2174 GLE1 0 genome.wustl.edu 37 9 131286073 131286073 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 131286073 131286073 G A SNP GLE1 ENST00000309971 human ensembl 74_37 +1 known missense c.845 p.R282Q 0.832 NULL pfam_GLE1 - no_errors GLE1 HGNC ENSG00000119392 34 0 0 23 16 41.0256 USP20 0 genome.wustl.edu 37 9 132632775 132632775 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 132632775 132632775 G A SNP USP20 ENST00000315480 human ensembl 74_37 +1 known missense c.1609 p.V537I 0.998 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP20 HGNC ENSG00000136878 129 0 0 64 61 48.8 TSC1 0 genome.wustl.edu 37 9 135781361 135781361 + Missense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 135781361 135781361 G T SNP TSC1 ENST00000298552 human ensembl 74_37 -1 known missense c.1604 p.P535H 0.931 pfam_Hamartin pfam_Hamartin,superfamily_ARM-type_fold - no_errors TSC1 HGNC ENSG00000165699 80 0 0 41 37 47.4359 SURF6 0 genome.wustl.edu 37 9 136199028 136199028 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 136199028 136199028 C T SNP SURF6 ENST00000372022 human ensembl 74_37 -1 known missense c.763 p.G255S 1.000 pfam_Surf6 pfam_Surf6 - no_errors SURF6 HGNC ENSG00000148296 130 0 0 116 43 27.044 RPL7A 0 genome.wustl.edu 37 9 136216547 136216547 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 136216547 136216547 G A SNP RPL7A ENST00000323345 human ensembl 74_37 +1 known missense c.266 p.R89H 1.000 prints_Ribosomal_L7A/L8 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,prints_Ribosomal_L7A/L8,prints_Ribosomal_L7Ae/L8/Nhp2 - no_errors RPL7A HGNC ENSG00000148303 102 0 0 69 11 13.75 PPP1R26 0 genome.wustl.edu 37 9 138376815 138376815 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 138376815 138376815 C T SNP PPP1R26 ENST00000356818 human ensembl 74_37 +1 known silent c.459 p.G153 0.000 NULL NULL - no_errors PPP1R26 HGNC ENSG00000196422 90 0 0 32 40 55.5556 CARD9 0 genome.wustl.edu 37 9 139264209 139264209 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 139264209 139264209 C T SNP CARD9 ENST00000371732 human ensembl 74_37 -1 known missense c.1070 p.R357Q 0.999 NULL pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors CARD9 HGNC ENSG00000187796 12 0 0 14 6 30 SNAPC4 0 genome.wustl.edu 37 9 139273404 139273404 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 139273404 139273404 C T SNP SNAPC4 ENST00000298532 human ensembl 74_37 -1 known missense c.2875 p.A959T 0.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors SNAPC4 HGNC ENSG00000165684 29 0 0 18 5 21.7391 SEC16A 0 genome.wustl.edu 37 9 139370120 139370120 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 139370120 139370120 C T SNP SEC16A ENST00000313050 human ensembl 74_37 -1 known missense c.1948 p.A650T 0.000 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 28 0 0 15 12 44.4444 NOTCH1 0 genome.wustl.edu 37 9 139395257 139395257 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 139395257 139395257 C T SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known missense c.5681 p.G1894D 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt-contain_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 37 0 0 21 20 48.7805 NDOR1 0 genome.wustl.edu 37 9 140108310 140108310 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 140108310 140108310 C T SNP NDOR1 ENST00000371521 human ensembl 74_37 +1 known silent c.390 p.G130 0.087 pfam_Flavodoxin/NO_synth,pfscan_Flavodoxin/NO_synth,prints_Flavdoxin pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NDOR1 HGNC ENSG00000188566 28 0 0 21 7 25 TOR4A 0 genome.wustl.edu 37 9 140173575 140173575 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 140173575 140173575 C T SNP TOR4A ENST00000357503 human ensembl 74_37 +1 known missense c.434 p.A145V 0.158 superfamily_P-loop_NTPase pfam_Torsin,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors TOR4A HGNC ENSG00000198113 12 0 0 4 6 60 CER1 0 genome.wustl.edu 37 9 14720258 14720258 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 14720258 14720258 C T SNP CER1 ENST00000380911 human ensembl 74_37 -1 known missense c.634 p.A212T 0.394 pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Cerberus,pfscan_Cys_knot_C pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Cerberus,pfscan_Cys_knot_C - no_errors CER1 HGNC ENSG00000147869 90 0 0 75 40 34.7826 DENND4C 0 genome.wustl.edu 37 9 19305410 19305410 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 19305410 19305410 G A SNP DENND4C ENST00000602925 human ensembl 74_37 +1 known missense c.1372 p.A458T 0.006 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4C HGNC ENSG00000137145 334 0 0 280 68 19.5402 KCNV2 0 genome.wustl.edu 37 9 2718724 2718724 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 2718724 2718724 C T SNP KCNV2 ENST00000382082 human ensembl 74_37 +1 known missense c.985 p.R329C 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNV2 HGNC ENSG00000168263 100 0 0 74 41 35.6522 DDX58 0 genome.wustl.edu 37 9 32485255 32485255 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 32485255 32485255 C T SNP DDX58 ENST00000379883 human ensembl 74_37 -1 known silent c.1398 p.R466 0.031 superfamily_P-loop_NTPase pfam_RIG-I_C-RD,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_DEATH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX58 HGNC ENSG00000107201 213 0 0 143 95 39.916 TOPORS 0 genome.wustl.edu 37 9 32543961 32543961 + Nonsense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 32543961 32543961 G A SNP TOPORS ENST00000360538 human ensembl 74_37 -1 known nonsense c.562 p.R188* 0.119 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors TOPORS HGNC ENSG00000197579 181 0 0 108 54 33.3333 RFX3 0 genome.wustl.edu 37 9 3257078 3257078 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 3257078 3257078 A G SNP RFX3 ENST00000382004 human ensembl 74_37 -1 known missense c.1727 p.V576A 1.000 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX3 HGNC ENSG00000080298 169 0 0 144 40 21.7391 NFX1 0 genome.wustl.edu 37 9 33319097 33319097 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 33319097 33319097 C T SNP NFX1 ENST00000379540 human ensembl 74_37 +1 known silent c.1878 p.C626 0.835 NULL pfam_Znf_NFX1,pfam_R3H_ss-bd,smart_Znf_RING,smart_Znf_NFX1,smart_R3H_ss-bd,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_R3H_ss-bd - no_errors NFX1 HGNC ENSG00000086102 72 0 0 52 35 40.2299 RUSC2 0 genome.wustl.edu 37 9 35555990 35555990 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 35555990 35555990 A G SNP RUSC2 ENST00000361226 human ensembl 74_37 +1 known missense c.2698 p.R900G 1.000 NULL pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC2 HGNC ENSG00000198853 66 0 0 93 16 14.6789 TLN1 0 genome.wustl.edu 37 9 35722156 35722156 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 35722156 35722156 C T SNP TLN1 ENST00000314888 human ensembl 74_37 -1 known missense c.908 p.R303H 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain 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 101 0 0 83 45 35.1562 TLN1 0 genome.wustl.edu 37 9 35724274 35724274 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 35724274 35724274 G A SNP TLN1 ENST00000314888 human ensembl 74_37 -1 known missense c.569 p.T190M 1.000 pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain 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 94 0 0 79 43 35.2459 GBA2 0 genome.wustl.edu 37 9 35741827 35741827 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 35741827 35741827 G A SNP GBA2 ENST00000545786 human ensembl 74_37 -1 known missense c.646 p.R216C 0.994 pfam_GBA2_N,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 104 1 0.952381 78 52 40 NPR2 0 genome.wustl.edu 37 9 35809174 35809174 + Missense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 35809174 35809174 C A SNP NPR2 ENST00000342694 human ensembl 74_37 +1 known missense c.3008 p.S1003Y 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors NPR2 HGNC ENSG00000159899 273 0 0 259 62 19.3146 RECK 0 genome.wustl.edu 37 9 36109988 36109988 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 36109988 36109988 C T SNP RECK ENST00000377966 human ensembl 74_37 +1 known silent c.1800 p.V600 1.000 superfamily_Prot_inh_PMP pfam_Kazal_dom,superfamily_Prot_inh_PMP,smart_Kazal_dom - no_errors RECK HGNC ENSG00000122707 260 0 0 203 106 34.3042 GNE 0 genome.wustl.edu 37 9 36229084 36229084 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 36229084 36229084 C T SNP GNE ENST00000396594 human ensembl 74_37 -1 known missense c.1097 p.R366Q 1.000 pfam_UDP_GlcNAc_Epimerase_2,tigrfam_UDP-GlcNAc_Epase pfam_UDP_GlcNAc_Epimerase_2,pfam_ROK,prints_Hexokinase,tigrfam_UDP-GlcNAc_Epase - no_errors GNE HGNC ENSG00000159921 157 0 0 110 61 35.6725 ALDH1B1 0 genome.wustl.edu 37 9 38397269 38397269 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 38397269 38397269 C T SNP ALDH1B1 ENST00000377698 human ensembl 74_37 +1 known silent c.1524 p.V508 0.989 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1B1 HGNC ENSG00000137124 40 0 0 31 17 35.4167 CNTNAP3 0 genome.wustl.edu 37 9 39132956 39132956 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 39132956 39132956 C T SNP CNTNAP3 ENST00000297668 human ensembl 74_37 -1 known missense c.2053 p.G685R 0.997 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP3 HGNC ENSG00000106714 9 0 0 10 3 23.0769 CNTNAP3 0 genome.wustl.edu 37 9 39177488 39177488 + Missense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 39177488 39177488 G T SNP CNTNAP3 ENST00000297668 human ensembl 74_37 -1 known missense c.754 p.L252M 0.001 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP3 HGNC ENSG00000106714 55 0 0 50 5 9.09091 ANKRD20A2 0 genome.wustl.edu 37 9 42368576 42368576 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 42368576 42368576 G A SNP ANKRD20A2 ENST00000377601 human ensembl 74_37 +1 known silent c.162 p.A54 0.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD20A2 HGNC ENSG00000183148 136 0 0 129 16 11.0345 UHRF2 0 genome.wustl.edu 37 9 6506085 6506085 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 6506085 6506085 G A SNP UHRF2 ENST00000276893 human ensembl 74_37 +1 known missense c.2315 p.R772Q 1.000 pfscan_Znf_RING pfam_SRA_YDG,pfam_DUF3590,pfam_Ubiquitin_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Ubiquitin_dom,smart_Znf_PHD,smart_Znf_RING,smart_SRA_YDG,pfscan_SRA_YDG,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Ubiquitin_supergroup - no_errors UHRF2 HGNC ENSG00000147854 178 0 0 106 59 35.7576 PGM5 0 genome.wustl.edu 37 9 70993145 70993145 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 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 97 0 0 97 10 9.34579 TRPM3 0 genome.wustl.edu 37 9 73167808 73167808 + Nonsense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 73167808 73167808 G A SNP TRPM3 ENST00000423814 human ensembl 74_37 -1 known nonsense c.3571 p.R1191* 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 420 0 0 227 180 44.226 TMC1 0 genome.wustl.edu 37 9 75420336 75420336 + Silent SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 75420336 75420336 C A SNP TMC1 ENST00000297784 human ensembl 74_37 +1 known silent c.1605 p.T535 0.460 pfam_TMC pfam_TMC - no_errors TMC1 HGNC ENSG00000165091 320 0 0 258 81 23.8938 ANXA1 0 genome.wustl.edu 37 9 75774283 75774283 + Nonsense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 75774283 75774283 C T SNP ANXA1 ENST00000257497 human ensembl 74_37 +1 known nonsense c.214 p.R72* 1.000 pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinI - no_errors ANXA1 HGNC ENSG00000135046 132 0 0 73 54 42.5197 FOXB2 0 genome.wustl.edu 37 9 79634612 79634612 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 79634612 79634612 G A SNP FOXB2 ENST00000376708 human ensembl 74_37 +1 known silent c.42 p.P14 0.993 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head,prints_Antifreeze_1 - no_errors FOXB2 HGNC ENSG00000204612 13 0 0 5 6 54.5455 GNA14 0 genome.wustl.edu 37 9 80262590 80262590 + Silent SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 80262590 80262590 C A SNP GNA14 ENST00000341700 human ensembl 74_37 -1 known silent c.120 p.L40 1.000 pfam_Gprotein_alpha_su,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_Q - no_errors GNA14 HGNC ENSG00000156049 10 0 0 12 5 29.4118 SPATA31D4 0 genome.wustl.edu 37 9 84547870 84547870 + RNA SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 84547870 84547870 T C SNP SPATA31D4 ENST00000341875 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors SPATA31D4 HGNC ENSG00000189357 31 0 0 16 4 20 KIF27 0 genome.wustl.edu 37 9 86482715 86482715 + Nonsense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 86482715 86482715 G A SNP KIF27 ENST00000297814 human ensembl 74_37 -1 known nonsense c.2818 p.Q940* 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 KIF27 HGNC ENSG00000165115 158 0 0 121 27 18.2432 KIF27 0 genome.wustl.edu 37 9 86506375 86506375 + Silent SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 86506375 86506375 C A SNP KIF27 ENST00000297814 human ensembl 74_37 -1 known silent c.1644 p.L548 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 KIF27 HGNC ENSG00000165115 73 0 0 47 15 24.1935 CDK20 0 genome.wustl.edu 37 9 90588857 90588857 + Nonsense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 90588857 90588857 C A SNP CDK20 ENST00000325303 human ensembl 74_37 -1 known nonsense c.169 p.E57* 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 CDK20 HGNC ENSG00000156345 96 0 0 66 39 37.1429 BICD2 0 genome.wustl.edu 37 9 95481196 95481196 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 95481196 95481196 C T SNP BICD2 ENST00000356884 human ensembl 74_37 -1 known silent c.1731 p.A577 0.295 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc - no_errors BICD2 HGNC ENSG00000185963 25 0 0 9 18 66.6667 PTCH1 0 genome.wustl.edu 37 9 98238356 98238356 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 98238356 98238356 G A SNP PTCH1 ENST00000331920 human ensembl 74_37 -1 known missense c.1688 p.A563V 1.000 pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 44 0 0 20 13 39.3939 ERCC6L2 0 genome.wustl.edu 37 9 98691044 98691044 + Missense_Mutation SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 98691044 98691044 A G SNP ERCC6L2 ENST00000437817 human ensembl 74_37 +1 known missense c.1115 p.D372G 1.000 pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L2 HGNC ENSG00000182150 79 0 0 39 34 46.5753 ARMCX6 0 genome.wustl.edu 37 X 100871578 100871578 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 X 100871578 100871578 C T SNP ARMCX6 ENST00000361910 human ensembl 74_37 -1 known silent c.33 p.A11 0.583 NULL pfam_ARM-rpt_dom - no_errors ARMCX6 HGNC ENSG00000198960 87 0 0 29 29 50 ACSL4 0 genome.wustl.edu 37 X 108904809 108904809 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 X 108904809 108904809 C T SNP ACSL4 ENST00000340800 human ensembl 74_37 -1 known missense c.1771 p.A591T 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL4 HGNC ENSG00000068366 188 0 0 34 56 62.2222 CAPN6 0 genome.wustl.edu 37 X 110497632 110497632 + Splice_Site SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 X 110497632 110497632 C T SNP CAPN6 ENST00000324068 human ensembl 74_37 -1 known splice_site c.166-1 e2-1 1.000 - - - no_errors CAPN6 HGNC ENSG00000077274 159 0 0 66 25 27.4725 KIAA1210 0 genome.wustl.edu 37 X 118222370 118222370 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 X 118222370 118222370 G A SNP KIAA1210 ENST00000402510 human ensembl 74_37 -1 known silent c.2823 p.S941 0.000 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 70 0 0 19 23 54.7619 KIAA1210 0 genome.wustl.edu 37 X 118222628 118222628 + Silent SNP A A G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 X 118222628 118222628 A G SNP KIAA1210 ENST00000402510 human ensembl 74_37 -1 known silent c.2565 p.S855 0.000 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 56 0 0 21 20 48.7805 UBE2A 0 genome.wustl.edu 37 X 118715482 118715482 + Missense_Mutation SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 X 118715482 118715482 T C SNP UBE2A ENST00000371558 human ensembl 74_37 +1 known missense c.164 p.L55P 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 UBE2A HGNC ENSG00000077721 78 0 0 22 37 62.7119 RHOXF1 0 genome.wustl.edu 37 X 119243191 119243191 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 X 119243191 119243191 G A SNP RHOXF1 ENST00000217999 human ensembl 74_37 -1 known missense c.514 p.R172C 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors RHOXF1 HGNC ENSG00000101883 30 0 0 8 18 69.2308 CUL4B 0 genome.wustl.edu 37 X 119680456 119680456 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 X 119680456 119680456 G A SNP CUL4B ENST00000404115 human ensembl 74_37 -1 known silent c.846 p.S282 1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL4B HGNC ENSG00000158290 38 0 0 6 17 73.913 GPR119 0 genome.wustl.edu 37 X 129518496 129518496 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 X 129518496 129518496 G A SNP GPR119 ENST00000276218 human ensembl 74_37 -1 known missense c.926 p.S309L 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR119 HGNC ENSG00000147262 136 0 0 31 71 69.6078 GPR119 0 genome.wustl.edu 37 X 129518542 129518542 + Missense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 X 129518542 129518542 C A SNP GPR119 ENST00000276218 human ensembl 74_37 -1 known missense c.880 p.A294S 0.991 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR119 HGNC ENSG00000147262 116 0 0 31 58 65.1685 FRMD7 0 genome.wustl.edu 37 X 131214290 131214290 + Nonsense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 X 131214290 131214290 G A SNP FRMD7 ENST00000298542 human ensembl 74_37 -1 known nonsense c.910 p.R304* 1.000 pfam_FERM-adjacent pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,pfscan_FERM_domain - no_errors FRMD7 HGNC ENSG00000165694 135 0 0 37 48 56.4706 FHL1 0 genome.wustl.edu 37 X 135288662 135288662 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 X 135288662 135288662 G A SNP FHL1 ENST00000345434 human ensembl 74_37 +1 known missense c.71 p.G24D 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FHL1 HGNC ENSG00000022267 380 1 0.262467 209 88 29.6296 ARHGEF6 0 genome.wustl.edu 37 X 135750258 135750258 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 X 135750258 135750258 C T SNP ARHGEF6 ENST00000250617 human ensembl 74_37 -1 known missense c.2261 p.R754Q 1.000 NULL pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_SM22_calponin - no_errors ARHGEF6 HGNC ENSG00000129675 211 0 0 67 116 63.388 GPM6B 0 genome.wustl.edu 37 X 13801529 13801529 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 X 13801529 13801529 G A SNP GPM6B ENST00000316715 human ensembl 74_37 -1 known silent c.480 p.H160 0.990 pfam_Myelin_PLP,prints_Myelin_PLP pfam_Myelin_PLP,smart_Myelin_PLP,prints_Myelin_PLP - no_errors GPM6B HGNC ENSG00000046653 186 0 0 60 38 38.7755 SPANXN2 0 genome.wustl.edu 37 X 142795351 142795351 + Silent SNP T T C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 X 142795351 142795351 T C SNP SPANXN2 ENST00000370498 human ensembl 74_37 -1 known silent c.327 p.S109 0.001 NULL pfam_SPANX_prot - no_errors SPANXN2 HGNC ENSG00000203924 650 1 0.15361 248 148 37.3737 SLITRK2 0 genome.wustl.edu 37 X 144905393 144905393 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 X 144905393 144905393 C T SNP SLITRK2 ENST00000370490 human ensembl 74_37 +1 known missense c.1450 p.R484W 0.989 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK2 HGNC ENSG00000185985 362 0 0 84 108 56.25 AFF2 0 genome.wustl.edu 37 X 148044334 148044334 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 X 148044334 148044334 G A SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known missense c.2780 p.R927H 0.997 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 115 0 0 20 35 63.6364 GPR50 0 genome.wustl.edu 37 X 150348665 150348665 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 X 150348665 150348665 G A SNP GPR50 ENST00000218316 human ensembl 74_37 +1 known missense c.610 p.V204M 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_Mel_rcpt_1X,prints_GPCR_Rhodpsn,prints_Melatonin_rcpt,prints_NPY_rcpt - no_errors GPR50 HGNC ENSG00000102195 236 0 0 66 124 65.2632 ENSG00000266560 0 genome.wustl.edu 37 X 151283518 151283518 + RNA SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 X 151283518 151283518 G A SNP ENSG00000266560 ENST00000509345 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-1007I13.4 Clone_based_vega_gene ENSG00000266560 192 0 0 55 83 60.1449 GABRA3 0 genome.wustl.edu 37 X 151336738 151336738 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 X 151336738 151336738 G A SNP GABRA3 ENST00000370314 human ensembl 74_37 -1 known missense c.1441 p.R481W 1.000 superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa3_rcpt,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRA3 HGNC ENSG00000011677 166 1 0.598802 41 70 63.0631 ZNF185 0 genome.wustl.edu 37 X 152137958 152137958 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 X 152137958 152137958 G A SNP ZNF185 ENST00000370270 human ensembl 74_37 +1 known missense c.1997 p.R666H 0.200 smart_Znf_LIM,pfscan_Znf_LIM smart_Znf_LIM,pfscan_Znf_LIM - no_errors ZNF185 HGNC ENSG00000147394 21 0 0 7 11 61.1111 HCFC1 0 genome.wustl.edu 37 X 153225598 153225598 + Missense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 X 153225598 153225598 G T SNP HCFC1 ENST00000310441 human ensembl 74_37 -1 known missense c.1099 p.P367T 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 39 0 0 19 12 38.7097 TKTL1 0 genome.wustl.edu 37 X 153551557 153551557 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 X 153551557 153551557 C T SNP TKTL1 ENST00000369915 human ensembl 74_37 +1 known silent c.1191 p.D397 0.997 pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKTL1 HGNC ENSG00000007350 292 0 0 84 116 58 F8 0 genome.wustl.edu 37 X 154158281 154158281 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 X 154158281 154158281 C T SNP F8 ENST00000360256 human ensembl 74_37 -1 known missense c.3784 p.A1262T 0.000 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 131 0 0 52 17 24.6377 RAI2 0 genome.wustl.edu 37 X 17818801 17818801 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 X 17818801 17818801 C T SNP RAI2 ENST00000331511 human ensembl 74_37 -1 known missense c.1330 p.E444K 1.000 NULL NULL - no_errors RAI2 HGNC ENSG00000131831 433 0 0 108 84 43.75 POLA1 0 genome.wustl.edu 37 X 24833131 24833131 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 X 24833131 24833131 G A SNP POLA1 ENST00000379068 human ensembl 74_37 +1 known missense c.3332 p.R1111Q 1.000 pfam_DNA-dir_DNA_pol_B_multi_dom,tigrfam_DNA-dir_DNA_pol_B_pol2 pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,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 POLA1 HGNC ENSG00000101868 144 1 0.689655 30 29 49.1525 CD99 0 genome.wustl.edu 37 X 2609862 2609862 + Missense_Mutation SNP G G T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 X 2609862 2609862 G T SNP CD99 ENST00000381180 human ensembl 74_37 +1 known missense c.101 p.G34V 0.002 NULL NULL - no_errors CD99 HGNC ENSG00000002586 15 0 0 6 6 50 ARSE 0 genome.wustl.edu 37 X 2867386 2867386 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 X 2867386 2867386 C T SNP ARSE ENST00000545496 human ensembl 74_37 -1 known silent c.888 p.T296 0.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ARSE HGNC ENSG00000157399 112 0 0 27 17 38.6364 FAM47B 0 genome.wustl.edu 37 X 34961351 34961351 + Missense_Mutation SNP C C A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 X 34961351 34961351 C A SNP FAM47B ENST00000329357 human ensembl 74_37 +1 known missense c.403 p.P135T 0.015 NULL NULL - no_errors FAM47B HGNC ENSG00000189132 161 0 0 38 32 45.7143 CXorf22 0 genome.wustl.edu 37 X 35969308 35969308 + Silent SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 X 35969308 35969308 G A SNP CXorf22 ENST00000297866 human ensembl 74_37 +1 known silent c.717 p.Q239 0.999 NULL superfamily_PapD-like - no_errors CXorf22 HGNC ENSG00000165164 154 0 0 35 31 46.9697 RBM10 0 genome.wustl.edu 37 X 47040964 47040964 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 X 47040964 47040964 C T SNP RBM10 ENST00000377604 human ensembl 74_37 +1 known silent c.1494 p.R498 0.370 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 30 0 0 5 11 68.75 GNL3L 0 genome.wustl.edu 37 X 54578159 54578159 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 X 54578159 54578159 G A SNP GNL3L ENST00000336470 human ensembl 74_37 +1 known missense c.1022 p.R341H 1.000 NULL pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors GNL3L HGNC ENSG00000130119 80 0 0 18 18 50 AMER1 0 genome.wustl.edu 37 X 63411093 63411093 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 X 63411093 63411093 C T SNP AMER1 ENST00000330258 human ensembl 74_37 -1 known missense c.2074 p.E692K 0.311 NULL pfam_Uncharacterised_FAM123 - no_errors AMER1 HGNC ENSG00000184675 57 0 0 49 14 22.2222 ZC4H2 0 genome.wustl.edu 37 X 64140025 64140025 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 X 64140025 64140025 G A SNP ZC4H2 ENST00000374839 human ensembl 74_37 -1 known missense c.334 p.R112C 1.000 pfam_Znf-C4H2 pfam_Znf-C4H2 - no_errors ZC4H2 HGNC ENSG00000126970 139 0 0 38 49 56.3218 EDA 0 genome.wustl.edu 37 X 69243069 69243069 + Silent SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 X 69243069 69243069 C T SNP EDA ENST00000374552 human ensembl 74_37 +1 known silent c.504 p.G168 1.000 NULL pfam_TNF_dom,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,pfscan_TNF_dom - no_errors EDA HGNC ENSG00000158813 36 0 0 13 9 40.9091 OTUD6A 0 genome.wustl.edu 37 X 69282415 69282415 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 X 69282415 69282415 G A SNP OTUD6A ENST00000338352 human ensembl 74_37 +1 known missense c.41 p.R14H 0.794 NULL pfam_OTU,pfscan_OTU - no_errors OTUD6A HGNC ENSG00000189401 28 0 0 6 12 66.6667 ZMYM3 0 genome.wustl.edu 37 X 70460933 70460933 + Missense_Mutation SNP C C T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 X 70460933 70460933 C T SNP ZMYM3 ENST00000373988 human ensembl 74_37 -1 known missense c.3952 p.D1318N 0.997 pfam_DUF3504 pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM3 HGNC ENSG00000147130 40 0 0 16 5 23.8095 NAP1L2 0 genome.wustl.edu 37 X 72433309 72433309 + Missense_Mutation SNP A A T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 X 72433309 72433309 A T SNP NAP1L2 ENST00000373517 human ensembl 74_37 -1 known missense c.1020 p.N340K 0.999 pfam_NAP_family pfam_NAP_family - no_errors NAP1L2 HGNC ENSG00000186462 194 1 0.512821 52 87 62.5899 FAM9A 0 genome.wustl.edu 37 X 8766403 8766403 + Missense_Mutation SNP G G A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 X 8766403 8766403 G A SNP FAM9A ENST00000381003 human ensembl 74_37 -1 known missense c.338 p.T113M 0.000 NULL NULL - no_errors FAM9A HGNC ENSG00000183304 422 1 0.236407 121 95 43.9815 MXRA8 0 genome.wustl.edu 37 1 1290110 1290110 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 1290110 1290110 G - DEL MXRA8 ENST00000445648 human ensembl 74_37 -1 known frame_shift_del c.901 p.R301fs 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors MXRA8 HGNC ENSG00000162576 16 0 0 10 4 28.5714 ANKRD34A 0 genome.wustl.edu 37 1 145474257 145474258 + Frame_Shift_Del DEL CT CT - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 145474257 145474258 CT - DEL ANKRD34A ENST00000323397 human ensembl 74_37 +1 known frame_shift_del c.929_930 p.R313fs 0.640:0.375 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD34A HGNC ENSG00000181039 68 0 0 109 11 9.16667 HIST2H2BF 0 genome.wustl.edu 37 1 149783804 149783806 + In_Frame_Del DEL CTT CTT - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 149783804 149783806 CTT - DEL HIST2H2BF ENST00000427880 human ensembl 74_37 -1 known in_frame_del c.75_73 p.K25in_frame_del 0.914:1.000:1.000 superfamily_Histone-fold pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST2H2BF HGNC ENSG00000203814 267 0 0 413 65 13.5983 SF3B4 0 genome.wustl.edu 37 1 149895562 149895562 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 149895562 149895562 G - DEL SF3B4 ENST00000271628 human ensembl 74_37 -1 known frame_shift_del c.1147 p.H383fs 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SF3B4 HGNC ENSG00000143368 33 0 0 41 5 10.8696 TARS2 0 genome.wustl.edu 37 1 150477199 150477199 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 150477199 150477199 G - DEL TARS2 ENST00000369064 human ensembl 74_37 +1 known frame_shift_del c.1810 p.K606fs 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 216 0 0 305 43 12.3563 HORMAD1 0 genome.wustl.edu 37 1 150679276 150679276 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 150679276 150679276 G - DEL HORMAD1 ENST00000361824 human ensembl 74_37 -1 known frame_shift_del c.557 p.P186fs 1.000 pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd - no_errors HORMAD1 HGNC ENSG00000143452 123 0 0 130 38 22.619 VPS72 0 genome.wustl.edu 37 1 151149535 151149536 + Frame_Shift_Del DEL AA AA - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 151149535 151149536 AA - DEL VPS72 ENST00000354473 human ensembl 74_37 -1 novel frame_shift_del c.713_712 p.L238fs 0.000:0.002 NULL pfam_YL1,pfam_YL1_C - no_errors VPS72 HGNC ENSG00000163159 29 0 0 52 9 14.7541 LMNA 0 genome.wustl.edu 37 1 156108466 156108467 + Frame_Shift_Ins INS - - G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 156108466 156108467 - G INS LMNA ENST00000368300 human ensembl 74_37 +1 known frame_shift_ins c.1886_1887 p.S632fs 1.000:1.000 NULL pfam_IF,pfam_Lamin_tail_dom,superfamily_Prefoldin - no_errors LMNA HGNC ENSG00000160789 38 0 0 50 4 7.40741 SPTA1 0 genome.wustl.edu 37 1 158656307 158656307 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 158656307 158656307 T - DEL SPTA1 ENST00000368147 human ensembl 74_37 -1 known frame_shift_del c.1 p.M1fs 0.072 NULL pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 60 0 0 99 8 7.47664 IGSF9 0 genome.wustl.edu 37 1 159912846 159912846 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 159912846 159912846 G - DEL IGSF9 ENST00000368094 human ensembl 74_37 -1 known frame_shift_del c.154 p.L52fs 0.980 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF9 HGNC ENSG00000085552 34 0 0 76 7 8.43373 MAEL 0 genome.wustl.edu 37 1 166960642 166960642 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 166960642 166960642 C - DEL MAEL ENST00000367872 human ensembl 74_37 +1 known frame_shift_del c.253 p.P85fs 0.930 pfam_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,superfamily_CH-domain - no_errors MAEL HGNC ENSG00000143194 324 0 0 503 40 7.36648 ADCY10 0 genome.wustl.edu 37 1 167865906 167865906 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 167865906 167865906 G - DEL ADCY10 ENST00000367851 human ensembl 74_37 -1 known frame_shift_del c.666 p.N223fs 0.005 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 320 0 0 412 168 28.9655 F5 0 genome.wustl.edu 37 1 169492452 169492453 + Frame_Shift_Ins INS - - GTTCC TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 169492452 169492453 - GTTCC INS F5 ENST00000367797 human ensembl 74_37 -1 known frame_shift_ins c.6031_6030 p.S2010fs 1.000:1.000 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_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 101 0 0 153 31 16.8478 PAPPA2 0 genome.wustl.edu 37 1 176762723 176762724 + Frame_Shift_Ins INS - - C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 176762723 176762724 - C INS PAPPA2 ENST00000367662 human ensembl 74_37 +1 known frame_shift_ins c.5048_5049 p.S1686fs 0.498:0.506 NULL pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 117 0 0 275 19 6.46259 ENSG00000184909 0 genome.wustl.edu 37 1 178514876 178514887 + In_Frame_Del DEL AACAGTGATCTT AACAGTGATCTT - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 AACAGTGATCTT AACAGTGATCTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 178514876 178514887 AACAGTGATCTT - DEL ENSG00000184909 ENST00000367636 human ensembl 74_37 +1 novel in_frame_del c.262_273 p.NSDL88in_frame_del 0.004:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000 NULL NULL - no_errors C1ORF220 Uniprot_gn ENSG00000184909 82 0 0 132 27 16.9811 DHX9 0 genome.wustl.edu 37 1 182852698 182852698 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 182852698 182852698 C - DEL DHX9 ENST00000367549 human ensembl 74_37 +1 known frame_shift_del c.3188 p.L1065fs 0.984 pfam_DUF1605 pfam_dsRNA-bd_dom,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_dsRNA-bd_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom - no_errors DHX9 HGNC ENSG00000135829 184 0 0 369 29 7.28643 HMCN1 0 genome.wustl.edu 37 1 186052065 186052066 + Frame_Shift_Ins INS - - A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 186052065 186052066 - A INS HMCN1 ENST00000271588 human ensembl 74_37 +1 known frame_shift_ins c.8856_8857 p.Y2954fs 1.000:1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 49 0 0 74 35 32.1101 PRG4 0 genome.wustl.edu 37 1 186277936 186277936 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 186277936 186277936 A - DEL PRG4 ENST00000445192 human ensembl 74_37 +1 known frame_shift_del c.3085 p.K1030fs 0.367 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 184 0 0 243 32 11.6364 ASPM 0 genome.wustl.edu 37 1 197094038 197094038 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 197094038 197094038 T - DEL ASPM ENST00000367409 human ensembl 74_37 -1 known frame_shift_del c.3130 p.T1044fs 1.000 superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,pfscan_CH-domain 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 150 0 0 219 17 7.20339 CACNA1S 0 genome.wustl.edu 37 1 201030493 201030494 + Frame_Shift_Ins INS - - A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 201030493 201030494 - A INS CACNA1S ENST00000362061 human ensembl 74_37 -1 known frame_shift_ins c.3157_3156 p.A1052fs 1.000:0.840 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 98 0 0 174 21 10.7692 GPR37L1 0 genome.wustl.edu 37 1 202092168 202092168 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 202092168 202092168 C - DEL GPR37L1 ENST00000367282 human ensembl 74_37 +1 known frame_shift_del c.77 p.L28fs 0.002 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn - no_errors GPR37L1 HGNC ENSG00000170075 57 0 0 65 50 43.4783 TMEM183A 0 genome.wustl.edu 37 1 202977912 202977913 + Frame_Shift_Ins INS - - A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 202977912 202977913 - A INS TMEM183A ENST00000367242 human ensembl 74_37 +1 known frame_shift_ins c.341_342 p.K117fs 1.000:1.000 NULL superfamily_F-box_dom - no_errors TMEM183A HGNC ENSG00000163444 65 0 0 117 9 7.14286 SOX13 0 genome.wustl.edu 37 1 204091104 204091104 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 204091104 204091104 C - DEL SOX13 ENST00000367204 human ensembl 74_37 +1 known frame_shift_del c.852 p.L286fs 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX13 HGNC ENSG00000143842 28 0 0 56 4 6.66667 KIF17 0 genome.wustl.edu 37 1 20991166 20991166 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 20991166 20991166 G - DEL KIF17 ENST00000247986 human ensembl 74_37 -1 known frame_shift_del c.3001 p.R1001fs 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF17 HGNC ENSG00000117245 162 0 0 148 33 18.232 CENPF 0 genome.wustl.edu 37 1 214818826 214818826 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 214818826 214818826 A - DEL CENPF ENST00000366955 human ensembl 74_37 +1 known frame_shift_del c.5913 p.T1974fs 0.005 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 99 0 0 179 21 10.5 MIA3 0 genome.wustl.edu 37 1 222801059 222801059 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 222801059 222801059 A - DEL MIA3 ENST00000344441 human ensembl 74_37 +1 known frame_shift_del c.497 p.N168fs 0.008 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA3 HGNC ENSG00000154305 113 0 0 185 17 8.41584 DISP1 0 genome.wustl.edu 37 1 223178178 223178178 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 223178178 223178178 A - DEL DISP1 ENST00000284476 human ensembl 74_37 +1 novel frame_shift_del c.3439 p.K1148fs 0.278 NULL pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 137 0 0 233 24 9.33852 ITPKB 0 genome.wustl.edu 37 1 226923661 226923661 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 226923661 226923661 C - DEL ITPKB ENST00000272117 human ensembl 74_37 -1 known frame_shift_del c.1499 p.G500fs 0.001 NULL pfam_IPK - no_errors ITPKB HGNC ENSG00000143772 98 0 0 114 41 26.4516 OBSCN 0 genome.wustl.edu 37 1 228559450 228559450 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 228559450 228559450 G - DEL OBSCN ENST00000422127 human ensembl 74_37 +1 known frame_shift_del c.20971 p.A6993fs 0.000 NULL 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 39 0 0 103 7 6.36364 EPHB2 0 genome.wustl.edu 37 1 23240246 23240246 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 23240246 23240246 A - DEL EPHB2 ENST00000400191 human ensembl 74_37 +1 known frame_shift_del c.3051 p.K1020fs 0.270 NULL 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_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB2 HGNC ENSG00000133216 19 0 0 13 3 18.75 COA6 0 genome.wustl.edu 37 1 234510029 234510029 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 234510029 234510029 G - DEL COA6 ENST00000366615 human ensembl 74_37 +1 novel frame_shift_del c.266 p.A91fs 1.000 pfam_Cyt_c_oxidase_su6B,superfamily_Cyt_c_oxidase_su6B pfam_Cyt_c_oxidase_su6B,superfamily_Cyt_c_oxidase_su6B - no_errors COA6 HGNC ENSG00000168275 122 0 0 204 16 7.27273 TBCE 0 genome.wustl.edu 37 1 235602175 235602175 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 235602175 235602175 A - DEL TBCE ENST00000543662 human ensembl 74_37 +1 known frame_shift_del c.1361 p.N456fs 0.629 NULL pfam_CAP-Gly_domain,pfam_Ribosomal_S21e,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors TBCE HGNC ENSG00000116957 100 0 0 192 18 8.57143 FMN2 0 genome.wustl.edu 37 1 240286531 240286538 + Frame_Shift_Del DEL AGAAGCAG AGAAGCAG - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 AGAAGCAG AGAAGCAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 240286531 240286538 AGAAGCAG - DEL FMN2 ENST00000319653 human ensembl 74_37 +1 known frame_shift_del c.1668_1675 p.A558fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 pfscan_DEP_dom pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 116 0 0 113 40 26.1438 KMO 0 genome.wustl.edu 37 1 241753558 241753558 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 241753558 241753558 A - DEL KMO ENST00000366559 human ensembl 74_37 +1 known frame_shift_del c.1253 p.K420fs 1.000 NULL pfam_mOase_FAD-bd,prints_Rng_hydrolase-like - no_errors KMO HGNC ENSG00000117009 242 0 0 361 43 10.6436 ARID1A 0 genome.wustl.edu 37 1 27107226 27107227 + Frame_Shift_Ins INS - - T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 27107226 27107227 - T INS ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_ins c.6837_6838 p.L2280fs 1.000:1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 125 0 0 110 13 10.5691 COL8A2 0 genome.wustl.edu 37 1 36564698 36564699 + Frame_Shift_Ins INS - - C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 36564698 36564699 - C INS COL8A2 ENST00000303143 human ensembl 74_37 -1 known frame_shift_ins c.584_583 p.E195fs 0.996:0.999 NULL pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A2 HGNC ENSG00000171812 23 0 0 17 6 26.087 SH3D21 0 genome.wustl.edu 37 1 36785689 36785689 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 36785689 36785689 G - DEL SH3D21 ENST00000453908 human ensembl 74_37 +1 known frame_shift_del c.1425 p.D477fs 0.000 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors SH3D21 HGNC ENSG00000214193 118 0 0 100 17 14.5299 LSM10 0 genome.wustl.edu 37 1 36859374 36859375 + Frame_Shift_Ins INS - - G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 36859374 36859375 - G INS LSM10 ENST00000315732 human ensembl 74_37 -1 known frame_shift_ins c.357_356 p.N121fs 0.636:0.347 NULL pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors LSM10 HGNC ENSG00000181817 133 0 0 83 38 31.405 GRIK3 0 genome.wustl.edu 37 1 37291403 37291403 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 37291403 37291403 G - DEL GRIK3 ENST00000373091 human ensembl 74_37 -1 known frame_shift_del c.1555 p.L519fs 1.000 pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK3 HGNC ENSG00000163873 119 0 0 110 11 9.09091 PABPC4 0 genome.wustl.edu 37 1 40028016 40028016 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 40028016 40028016 G - DEL PABPC4 ENST00000372858 human ensembl 74_37 -1 known frame_shift_del c.1741 p.Q581fs 1.000 pfam_PABP_HYD,superfamily_PABP_HYD,smart_PABP_HYD,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 PABPC4 HGNC ENSG00000090621 161 0 0 168 23 12.0419 PTPRF 0 genome.wustl.edu 37 1 44010782 44010783 + Frame_Shift_Ins INS - - C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 44010782 44010783 - C INS PTPRF ENST00000359947 human ensembl 74_37 +1 known frame_shift_ins c.36_37 p.L13fs 1.000:1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC ENSG00000142949 12 0 0 9 3 25 POMGNT1 0 genome.wustl.edu 37 1 46654982 46654982 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 46654982 46654982 G - DEL POMGNT1 ENST00000371986 human ensembl 74_37 -1 known frame_shift_del c.1917 p.G641fs 1.000 NULL pfam_Glyco_trans_13 - no_errors POMGNT1 HGNC ENSG00000085998 143 0 0 151 18 10.6509 CPT2 0 genome.wustl.edu 37 1 53676493 53676493 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 53676493 53676493 T - DEL CPT2 ENST00000371486 human ensembl 74_37 +1 known frame_shift_del c.1147 p.F384fs 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT2 HGNC ENSG00000157184 59 0 0 27 19 41.3043 INADL 0 genome.wustl.edu 37 1 62253580 62253580 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 62253580 62253580 C - DEL INADL ENST00000371158 human ensembl 74_37 +1 known frame_shift_del c.1004 p.P337fs 0.133 superfamily_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors INADL HGNC ENSG00000132849 100 0 0 77 25 24.5098 RPL22 0 genome.wustl.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 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 58 0 0 34 40 54.0541 ESPN 0 genome.wustl.edu 37 1 6505882 6505882 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 6505882 6505882 C - DEL ESPN ENST00000377828 human ensembl 74_37 +1 known frame_shift_del c.1351 p.P452fs 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_WH2_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_WH2_dom - no_errors ESPN HGNC ENSG00000187017 40 0 0 8 18 69.2308 JAK1 0 genome.wustl.edu 37 1 65301142 65301143 + Frame_Shift_Ins INS - - GTGAC TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 65301142 65301143 - GTGAC INS JAK1 ENST00000342505 human ensembl 74_37 -1 known frame_shift_ins c.3306_3305 p.R1103fs 0.443:0.904 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,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_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors JAK1 HGNC ENSG00000162434 112 0 0 107 16 13.0081 JAK1 0 genome.wustl.edu 37 1 65330630 65330630 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 65330630 65330630 T - DEL JAK1 ENST00000342505 human ensembl 74_37 -1 known frame_shift_del c.1016 p.N339fs 0.934 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors JAK1 HGNC ENSG00000162434 83 0 0 43 31 41.8919 LRRIQ3 0 genome.wustl.edu 37 1 74648381 74648381 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 74648381 74648381 T - DEL LRRIQ3 ENST00000354431 human ensembl 74_37 -1 known frame_shift_del c.414 p.G139fs 1.000 NULL pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ3 HGNC ENSG00000162620 95 0 0 58 14 19.4444 CLCA3P 0 genome.wustl.edu 37 1 87108246 87108246 + RNA DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 87108246 87108246 A - DEL CLCA3P ENST00000284054 human ensembl 74_37 +1 known rna NULL NULL 0.018 - - - no_errors CLCA3P HGNC ENSG00000153923 44 0 0 33 6 15.3846 MTF2 0 genome.wustl.edu 37 1 93599280 93599280 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 1 93599280 93599280 A - DEL MTF2 ENST00000370298 human ensembl 74_37 +1 known frame_shift_del c.1181 p.G397fs 0.994 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MTF2 HGNC ENSG00000143033 72 0 0 39 28 41.791 CCDC18 0 genome.wustl.edu 37 1 93667516 93667516 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 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 56 0 0 48 9 15.7895 PROSER2 0 genome.wustl.edu 37 10 11911605 11911605 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 11911605 11911605 C - DEL PROSER2 ENST00000277570 human ensembl 74_37 +1 known frame_shift_del c.508 p.R172fs 0.000 NULL NULL - no_errors PROSER2 HGNC ENSG00000148426 17 0 0 25 5 16.6667 FANK1 0 genome.wustl.edu 37 10 127697969 127697969 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 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 101 0 0 40 26 39.3939 MSRB2 0 genome.wustl.edu 37 10 23393123 23393123 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 23393123 23393123 A - DEL MSRB2 ENST00000376510 human ensembl 74_37 +1 known frame_shift_del c.169 p.K57fs 1.000 pfam_Met_Sox_Rdtase_MsrB,superfamily_Mss4-like,tigrfam_Met_Sox_Rdtase_MsrB pfam_Met_Sox_Rdtase_MsrB,superfamily_Mss4-like,tigrfam_Met_Sox_Rdtase_MsrB - no_errors MSRB2 HGNC ENSG00000148450 105 0 0 129 15 10.4167 SVIL 0 genome.wustl.edu 37 10 29760116 29760116 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 29760116 29760116 C - DEL SVIL ENST00000355867 human ensembl 74_37 -1 known frame_shift_del c.5586 p.M1863fs 0.474 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors SVIL HGNC ENSG00000197321 52 0 0 41 8 16.3265 SVILP1 0 genome.wustl.edu 37 10 30982595 30982596 + RNA DEL AG AG - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 30982595 30982596 AG - DEL SVILP1 ENST00000435645 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors SVILP1 HGNC ENSG00000234814 46 0 0 63 11 14.8649 ZFAND4 0 genome.wustl.edu 37 10 46121400 46121400 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 46121400 46121400 A - DEL ZFAND4 ENST00000344646 human ensembl 74_37 -1 known frame_shift_del c.1871 p.L624fs 0.871 NULL pfam_Ubiquitin_dom,pfam_Znf_AN1,smart_Ubiquitin_dom,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors ZFAND4 HGNC ENSG00000172671 94 0 0 86 45 34.3511 LRRC18 0 genome.wustl.edu 37 10 50121776 50121777 + Frame_Shift_Ins INS - - C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 50121776 50121777 - C INS LRRC18 ENST00000374160 human ensembl 74_37 -1 known frame_shift_ins c.425_424 p.A142fs 0.276:0.289 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC18 HGNC ENSG00000165383 55 0 0 43 13 23.2143 JMJD1C 0 genome.wustl.edu 37 10 64960289 64960289 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 64960289 64960289 T - DEL JMJD1C ENST00000399262 human ensembl 74_37 -1 known frame_shift_del c.5223 p.G1742fs 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 50 0 0 32 14 30.4348 JMJD1C 0 genome.wustl.edu 37 10 64968499 64968499 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 64968499 64968499 T - DEL JMJD1C ENST00000399262 human ensembl 74_37 -1 known frame_shift_del c.2930 p.N977fs 0.979 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 164 0 0 163 24 12.8342 MBL1P 0 genome.wustl.edu 37 10 81680656 81680656 + RNA DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 81680656 81680656 A - DEL MBL1P ENST00000480805 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MBL1P HGNC ENSG00000242600 12 0 0 6 8 57.1429 LRIT1 0 genome.wustl.edu 37 10 86001144 86001144 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 86001144 86001144 G - DEL LRIT1 ENST00000372105 human ensembl 74_37 -1 known frame_shift_del c.52 p.Q18fs 0.600 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRIT1 HGNC ENSG00000148602 44 0 0 36 3 7.69231 ACTA2 0 genome.wustl.edu 37 10 90697897 90697897 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 10 90697897 90697897 C - DEL ACTA2 ENST00000224784 human ensembl 74_37 -1 known frame_shift_del c.911 p.G304fs 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTA2 HGNC ENSG00000107796 180 0 0 70 63 47.3684 MFRP 0 genome.wustl.edu 37 11 119213688 119213688 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 119213688 119213688 G - DEL MFRP ENST00000449574 human ensembl 74_37 -1 known frame_shift_del c.1150 p.H384fs 0.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Frizzled_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Frizzled_dom,pfscan_CUB_dom,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors MFRP HGNC ENSG00000235718 16 0 0 19 6 24 ROBO4 0 genome.wustl.edu 37 11 124755013 124755013 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 124755013 124755013 C - DEL ROBO4 ENST00000306534 human ensembl 74_37 -1 known frame_shift_del c.2925 p.M976fs 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO4 HGNC ENSG00000154133 108 0 0 79 31 28.1818 THYN1 0 genome.wustl.edu 37 11 134119775 134119777 + In_Frame_Del DEL CTT CTT - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 134119775 134119777 CTT - DEL THYN1 ENST00000341541 human ensembl 74_37 -1 known in_frame_del c.331_329 p.E110in_frame_del 1.000:0.957:0.866 pfam_EVE_domain,superfamily_PUA-like_domain pfam_EVE_domain,superfamily_PUA-like_domain - no_errors THYN1 HGNC ENSG00000151500 190 0 0 134 50 27.1739 TRIM51HP 0 genome.wustl.edu 37 11 55065032 55065032 + RNA DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 55065032 55065032 T - DEL TRIM51HP ENST00000526016 human ensembl 74_37 -1 putative rna NULL NULL 0.010 - - - no_errors TRIM51HP HGNC ENSG00000166007 63 0 0 50 22 30.5556 TRIM51 0 genome.wustl.edu 37 11 55653610 55653610 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 55653610 55653610 A - DEL TRIM51 ENST00000449290 human ensembl 74_37 +1 known frame_shift_del c.423 p.M144fs 0.001 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM51 HGNC ENSG00000124900 56 0 0 43 11 20.3704 FAM111A 0 genome.wustl.edu 37 11 58920087 58920087 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 58920087 58920087 A - DEL FAM111A ENST00000361723 human ensembl 74_37 +1 known frame_shift_del c.946 p.M318fs 0.000 NULL pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom - no_errors FAM111A HGNC ENSG00000166801 83 0 0 28 32 53.3333 OR4D6 0 genome.wustl.edu 37 11 59224768 59224768 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 59224768 59224768 T - DEL OR4D6 ENST00000300127 human ensembl 74_37 +1 known frame_shift_del c.335 p.F114fs 0.941 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 OR4D6 HGNC ENSG00000166884 270 0 0 211 50 19.1571 FAM160A2 0 genome.wustl.edu 37 11 6239226 6239226 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 6239226 6239226 G - DEL FAM160A2 ENST00000265978 human ensembl 74_37 -1 known frame_shift_del c.1632 p.A545fs 0.386 NULL pfam_RetinoicA-induced_16-like - no_errors FAM160A2 HGNC ENSG00000051009 90 0 0 45 17 27.4194 ARHGEF17 0 genome.wustl.edu 37 11 73020921 73020921 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 73020921 73020921 G - DEL ARHGEF17 ENST00000263674 human ensembl 74_37 +1 known frame_shift_del c.1238 p.G414fs 0.999 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF17 HGNC ENSG00000110237 67 0 0 67 20 22.9885 GAB2 0 genome.wustl.edu 37 11 77961288 77961301 + Frame_Shift_Del DEL GGTTTGACACAGGG GGTTTGACACAGGG - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 GGTTTGACACAGGG GGTTTGACACAGGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 77961288 77961301 GGTTTGACACAGGG - DEL GAB2 ENST00000361507 human ensembl 74_37 -1 known frame_shift_del c.535_522 p.P175fs 1.000:1.000:0.776:0.550:0.004:0.856:0.849:0.834:0.760:0.011:0.000:0.988:0.982:0.948 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB2 HGNC ENSG00000033327 243 0 0 135 61 31.1224 CEP57 0 genome.wustl.edu 37 11 95555113 95555113 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 11 95555113 95555113 A - DEL CEP57 ENST00000325542 human ensembl 74_37 +1 known frame_shift_del c.778 p.K262fs 1.000 pfam_Cep57_MT-bd_dom pfam_Cep57_MT-bd_dom - no_errors CEP57 HGNC ENSG00000166037 53 0 0 33 8 19.5122 ATXN2 0 genome.wustl.edu 37 12 111923563 111923566 + Frame_Shift_Del DEL AAAC AAAC - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 AAAC AAAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 111923563 111923566 AAAC - DEL ATXN2 ENST00000377617 human ensembl 74_37 -1 known frame_shift_del c.2891_2888 p.C963fs 1.000:1.000:1.000:1.000 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2 HGNC ENSG00000204842 107 0 0 101 32 24.0602 NOS1 0 genome.wustl.edu 37 12 117703230 117703230 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 117703230 117703230 C - DEL NOS1 ENST00000317775 human ensembl 74_37 -1 known frame_shift_del c.2027 p.G676fs 1.000 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 20 0 0 18 5 21.7391 HIP1R 0 genome.wustl.edu 37 12 123345518 123345521 + Frame_Shift_Del DEL CAGT CAGT - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 CAGT CAGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 123345518 123345521 CAGT - DEL HIP1R ENST00000253083 human ensembl 74_37 +1 known frame_shift_del c.2822_2825 p.V942fs 0.001:0.000:1.000:1.000 pfam_ILWEQ_dom,smart_ILWEQ_dom,pfscan_ILWEQ_dom pfam_ANTH_dom,pfam_ILWEQ_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_ILWEQ_dom,pfscan_Epsin-like_N,pfscan_ILWEQ_dom - no_errors HIP1R HGNC ENSG00000130787 48 0 0 44 8 15.3846 TMEM132D 0 genome.wustl.edu 37 12 130184704 130184705 + Frame_Shift_Ins INS - - G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 130184704 130184705 - G INS TMEM132D ENST00000422113 human ensembl 74_37 -1 known frame_shift_ins c.619_618 p.T206fs 0.073:0.027 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 44 0 0 42 7 14.2857 SFSWAP 0 genome.wustl.edu 37 12 132262751 132262751 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 132262751 132262751 A - DEL SFSWAP ENST00000261674 human ensembl 74_37 +1 known frame_shift_del c.2284 p.R764fs 1.000 NULL pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp - no_errors SFSWAP HGNC ENSG00000061936 86 0 0 57 15 20.8333 GOLT1B 0 genome.wustl.edu 37 12 21661406 21661406 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 21661406 21661406 T - DEL GOLT1B ENST00000229314 human ensembl 74_37 +1 known frame_shift_del c.207 p.L72fs 0.588 pfam_Vesicle_transpt_Got1/SFT2 pfam_Vesicle_transpt_Got1/SFT2 - no_errors GOLT1B HGNC ENSG00000111711 146 0 0 154 49 24.1379 LINC00477 0 genome.wustl.edu 37 12 24736562 24736562 + RNA DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 24736562 24736562 A - DEL LINC00477 ENST00000483544 human ensembl 74_37 -1 known rna NULL NULL 0.301 - - - no_errors LINC00477 HGNC ENSG00000197503 128 0 0 158 39 19.797 ITPR2 0 genome.wustl.edu 37 12 26551894 26551894 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 26551894 26551894 A - DEL ITPR2 ENST00000381340 human ensembl 74_37 -1 known frame_shift_del c.7611 p.F2537fs 1.000 pfam_Ion_trans_dom pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 30 0 0 43 9 17.3077 TEAD4 0 genome.wustl.edu 37 12 3131115 3131115 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 3131115 3131115 A - DEL TEAD4 ENST00000359864 human ensembl 74_37 +1 known frame_shift_del c.829 p.K278fs 1.000 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD4 HGNC ENSG00000197905 180 0 0 329 22 6.26781 PUS7L 0 genome.wustl.edu 37 12 44142360 44142361 + Frame_Shift_Ins INS - - A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 44142360 44142361 - A INS PUS7L ENST00000344862 human ensembl 74_37 -1 known frame_shift_ins c.963_962 p.L321fs 1.000:1.000 pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,tigrfam_PsdUridine_synth_TruD pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD - no_errors PUS7L HGNC ENSG00000129317 94 0 0 77 25 24.5098 KMT2D 0 genome.wustl.edu 37 12 49426113 49426115 + In_Frame_Del DEL AGA AGA - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 49426113 49426115 AGA - DEL KMT2D ENST00000301067 human ensembl 74_37 -1 known in_frame_del c.12375_12373 p.S4125in_frame_del 0.945:0.950:0.531 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 58 0 0 53 15 22.0588 KMT2D 0 genome.wustl.edu 37 12 49434005 49434005 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 49434005 49434005 G - DEL KMT2D ENST00000301067 human ensembl 74_37 -1 known frame_shift_del c.7548 p.N2517fs 0.004 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 41 0 0 34 12 26.087 KMT2D 0 genome.wustl.edu 37 12 49434492 49434492 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 49434492 49434492 G - DEL KMT2D ENST00000301067 human ensembl 74_37 -1 known frame_shift_del c.7061 p.P2354fs 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 69 0 0 63 18 22.2222 POU6F1 0 genome.wustl.edu 37 12 51584206 51584206 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 51584206 51584206 G - DEL POU6F1 ENST00000333640 human ensembl 74_37 -1 known frame_shift_del c.730 p.Q244fs 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,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,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU6F1 HGNC ENSG00000184271 255 0 0 269 37 12.0915 TENC1 0 genome.wustl.edu 37 12 53452903 53452903 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 53452903 53452903 C - DEL TENC1 ENST00000314276 human ensembl 74_37 +1 known frame_shift_del c.1508 p.P505fs 0.202 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TENC1 HGNC ENSG00000111077 101 0 0 84 27 24.3243 SRGAP1 0 genome.wustl.edu 37 12 64521663 64521663 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 64521663 64521663 C - DEL SRGAP1 ENST00000355086 human ensembl 74_37 +1 known frame_shift_del c.2563 p.P856fs 1.000 superfamily_SH3_domain pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC ENSG00000196935 149 0 0 125 56 30.9392 IRAK3 0 genome.wustl.edu 37 12 66610954 66610954 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 66610954 66610954 A - DEL IRAK3 ENST00000261233 human ensembl 74_37 +1 known frame_shift_del c.592 p.M200fs 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_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Death_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom - no_errors IRAK3 HGNC ENSG00000090376 613 0 0 542 68 11.1475 GPR162 0 genome.wustl.edu 37 12 6933720 6933721 + Frame_Shift_Ins INS - - G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 6933720 6933721 - G INS GPR162 ENST00000311268 human ensembl 74_37 +1 known frame_shift_ins c.656_657 p.G222fs 0.576:0.499 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR162,prints_GCR_153/162 - no_errors GPR162 HGNC ENSG00000250510 57 0 0 132 10 7.04225 ATN1 0 genome.wustl.edu 37 12 7045700 7045700 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 7045700 7045700 C - DEL ATN1 ENST00000356654 human ensembl 74_37 +1 known frame_shift_del c.1270 p.K426fs 1.000 pfam_Atrophin-like,prints_Atrophin-1 pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 209 0 0 233 183 43.9904 VEZT 0 genome.wustl.edu 37 12 95650969 95650969 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 12 95650969 95650969 T - DEL VEZT ENST00000436874 human ensembl 74_37 +1 known frame_shift_del c.212 p.S74fs 0.065 NULL NULL - no_errors VEZT HGNC ENSG00000028203 26 0 0 29 11 27.5 GRK1 0 genome.wustl.edu 37 13 114322049 114322049 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 13 114322049 114322049 C - DEL GRK1 ENST00000335678 human ensembl 74_37 +1 known frame_shift_del c.348 p.Q118fs 0.989 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK1 HGNC ENSG00000185974 56 0 0 52 13 20 ZMYM2 0 genome.wustl.edu 37 13 20638677 20638677 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 13 20638677 20638677 A - DEL ZMYM2 ENST00000382869 human ensembl 74_37 +1 known frame_shift_del c.3124 p.K1044fs 1.000 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM2 HGNC ENSG00000121741 12 0 0 14 2 12.5 SACS 0 genome.wustl.edu 37 13 23909222 23909222 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 13 23909222 23909222 T - DEL SACS ENST00000382292 human ensembl 74_37 -1 known frame_shift_del c.8793 p.K2931fs 0.967 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 191 0 0 138 19 12.1019 RNF17 0 genome.wustl.edu 37 13 25362211 25362211 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 13 25362211 25362211 A - DEL RNF17 ENST00000255324 human ensembl 74_37 +1 known frame_shift_del c.697 p.N235fs 1.000 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING - no_errors RNF17 HGNC ENSG00000132972 68 0 0 31 23 42.5926 ZC3H13 0 genome.wustl.edu 37 13 46538103 46538103 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 13 46538103 46538103 C - DEL ZC3H13 ENST00000242848 human ensembl 74_37 -1 known frame_shift_del c.4546 p.A1516fs 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 141 0 0 97 15 13.3929 CKAP2 0 genome.wustl.edu 37 13 53049034 53049034 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 13 53049034 53049034 A - DEL CKAP2 ENST00000378037 human ensembl 74_37 +1 known frame_shift_del c.1810 p.K606fs 0.999 NULL NULL - no_errors CKAP2 HGNC ENSG00000136108 66 0 0 37 20 35.0877 KLF5 0 genome.wustl.edu 37 13 73636789 73636790 + Frame_Shift_Del DEL CA CA - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 13 73636789 73636790 CA - DEL KLF5 ENST00000377687 human ensembl 74_37 +1 known frame_shift_del c.1052_1053 p.Q352fs 0.660:0.244 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF5 HGNC ENSG00000102554 201 0 0 141 28 16.568 EDNRB 0 genome.wustl.edu 37 13 78475267 78475267 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 13 78475267 78475267 A - DEL EDNRB ENST00000334286 human ensembl 74_37 -1 known frame_shift_del c.877 p.Y293fs 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Endthln_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt - no_errors EDNRB HGNC ENSG00000136160 115 0 0 82 18 18 DLK1 0 genome.wustl.edu 37 14 101200555 101200555 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 101200555 101200555 C - DEL DLK1 ENST00000341267 human ensembl 74_37 +1 known frame_shift_del c.474 p.P160fs 1.000 pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DLK1 HGNC ENSG00000185559 102 0 0 114 15 11.6279 DYNC1H1 0 genome.wustl.edu 37 14 102498794 102498796 + In_Frame_Del DEL GAG GAG - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 102498794 102498796 GAG - DEL DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known in_frame_del c.10069_10071 p.E3358in_frame_del 1.000:1.000:1.000 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 94 0 0 81 8 8.98876 INF2 0 genome.wustl.edu 37 14 105174185 105174185 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 105174185 105174185 C - DEL INF2 ENST00000392634 human ensembl 74_37 +1 known frame_shift_del c.1581 p.V530fs 0.011 NULL 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 17 0 0 12 7 36.8421 ZNF219 0 genome.wustl.edu 37 14 21558707 21558707 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 21558707 21558707 C - DEL ZNF219 ENST00000360947 human ensembl 74_37 -1 known frame_shift_del c.2157 p.Q720fs 0.012 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Histamine_H3_rcpt - no_errors ZNF219 HGNC ENSG00000165804 41 0 0 33 18 35.2941 IPO4 0 genome.wustl.edu 37 14 24656872 24656873 + Frame_Shift_Ins INS - - CT TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 24656872 24656873 - CT INS IPO4 ENST00000354464 human ensembl 74_37 -1 known frame_shift_ins c.409_408 p.M136fs 1.000:1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_HEAT_type_2,pfscan_Importin-beta_N - no_errors IPO4 HGNC ENSG00000196497 124 0 0 132 24 15.3846 CBLN3 0 genome.wustl.edu 37 14 24898055 24898055 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 24898055 24898055 G - DEL CBLN3 ENST00000267406 human ensembl 74_37 -1 known frame_shift_del c.206 p.P69fs 0.868 smart_C1q,pfscan_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN3 HGNC ENSG00000139899 30 0 0 34 3 8.10811 G2E3 0 genome.wustl.edu 37 14 31074771 31074772 + Frame_Shift_Ins INS - - A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 31074771 31074772 - A INS G2E3 ENST00000206595 human ensembl 74_37 +1 known frame_shift_ins c.1071_1072 p.T360fs 1.000:0.994 superfamily_HECT pfam_HECT,superfamily_HECT,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_HECT,pfscan_HECT - no_errors G2E3 HGNC ENSG00000092140 31 0 0 12 7 36.8421 ARHGAP5 0 genome.wustl.edu 37 14 32562696 32562696 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 32562696 32562696 A - DEL ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known frame_shift_del c.2821 p.N943fs 1.000 NULL pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 90 0 0 69 13 15.8537 FAM179B 0 genome.wustl.edu 37 14 45540973 45540973 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 45540973 45540973 A - DEL FAM179B ENST00000361577 human ensembl 74_37 +1 known frame_shift_del c.4869 p.K1624fs 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FAM179B HGNC ENSG00000198718 107 0 0 77 17 18.0851 SAMD4A 0 genome.wustl.edu 37 14 55236839 55236840 + Frame_Shift_Ins INS - - A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 55236839 55236840 - A INS SAMD4A ENST00000392067 human ensembl 74_37 +1 known frame_shift_ins c.1614_1615 p.R540fs 1.000:1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM - no_errors SAMD4A HGNC ENSG00000020577 123 0 0 132 49 27.0718 KCNH5 0 genome.wustl.edu 37 14 63174626 63174626 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 63174626 63174626 T - DEL KCNH5 ENST00000322893 human ensembl 74_37 -1 known frame_shift_del c.2567 p.N856fs 1.000 NULL pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_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-assoc_C,tigrfam_PAS - no_errors KCNH5 HGNC ENSG00000140015 217 0 0 153 58 27.4882 SYNE2 0 genome.wustl.edu 37 14 64586329 64586330 + Splice_Site INS - - A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 64586329 64586330 - A INS SYNE2 ENST00000358025 human ensembl 74_37 +1 known splice_site_ins c.13023+2_13023+1 e66+2 1.000:0.982 - - - no_errors SYNE2 HGNC ENSG00000054654 69 0 0 58 27 31.7647 TGFB3 0 genome.wustl.edu 37 14 76429701 76429701 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 76429701 76429701 C - DEL TGFB3 ENST00000238682 human ensembl 74_37 -1 known frame_shift_del c.884 p.G295fs 0.039 pirsf_TGF-beta,prints_Transform_grow_fac_b3 pirsf_TGF-beta,pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Transform_grow_fac_b3,prints_TGF-beta - no_errors TGFB3 HGNC ENSG00000119699 122 0 0 100 35 25.9259 CPSF2 0 genome.wustl.edu 37 14 92601793 92601795 + In_Frame_Del DEL AGA AGA - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 92601793 92601795 AGA - DEL CPSF2 ENST00000298875 human ensembl 74_37 +1 known in_frame_del c.498_500 p.E169in_frame_del 0.997:1.000:1.000 pfam_Beta-lactamas-like,smart_Beta-lactamas-like pfam_Beta_Casp,pfam_RMMBL,pfam_Beta-lactamas-like,smart_Beta-lactamas-like - no_errors CPSF2 HGNC ENSG00000165934 159 0 0 125 21 14.3836 UNC79 0 genome.wustl.edu 37 14 94088050 94088050 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 94088050 94088050 A - DEL UNC79 ENST00000553484 human ensembl 74_37 +1 known frame_shift_del c.4537 p.K1515fs 1.000 superfamily_ARM-type_fold superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 114 0 0 84 31 26.9565 SERPINA4 0 genome.wustl.edu 37 14 95035870 95035870 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 14 95035870 95035870 T - DEL SERPINA4 ENST00000298841 human ensembl 74_37 +1 known frame_shift_del c.1222 p.S409fs 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA4 HGNC ENSG00000100665 112 0 0 107 34 24.1135 SNHG14 0 genome.wustl.edu 37 15 25227367 25227367 + RNA DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 25227367 25227367 T - DEL SNHG14 ENST00000551361 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 22 0 0 6 2 25 HERC2 0 genome.wustl.edu 37 15 28525215 28525215 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 28525215 28525215 T - DEL HERC2 ENST00000261609 human ensembl 74_37 -1 known frame_shift_del c.541 p.S181fs 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 99 0 0 83 23 21.6981 CAPN3 0 genome.wustl.edu 37 15 42695177 42695179 + In_Frame_Del DEL CTC CTC - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 42695177 42695179 CTC - DEL CAPN3 ENST00000397163 human ensembl 74_37 +1 known in_frame_del c.1722_1724 p.S575in_frame_del 1.000:1.000:1.000 pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN3 HGNC ENSG00000092529 125 0 0 129 11 7.85714 TTBK2 0 genome.wustl.edu 37 15 43044817 43044817 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 43044817 43044817 T - DEL TTBK2 ENST00000267890 human ensembl 74_37 -1 known frame_shift_del c.2627 p.N876fs 0.081 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTBK2 HGNC ENSG00000128881 136 0 0 113 24 17.5182 SHC4 0 genome.wustl.edu 37 15 49254948 49254948 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 49254948 49254948 G - DEL SHC4 ENST00000332408 human ensembl 74_37 -1 known frame_shift_del c.265 p.R89fs 1.000 NULL pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2 - no_errors SHC4 HGNC ENSG00000185634 95 0 0 102 13 11.3043 FGF7 0 genome.wustl.edu 37 15 49776644 49776644 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 49776644 49776644 A - DEL FGF7 ENST00000267843 human ensembl 74_37 +1 known frame_shift_del c.528 p.T179fs 0.929 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF7 HGNC ENSG00000140285 43 0 0 37 6 13.9535 HDC 0 genome.wustl.edu 37 15 50534550 50534550 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 50534550 50534550 T - DEL HDC ENST00000267845 human ensembl 74_37 -1 known frame_shift_del c.1896 p.K632fs 0.991 NULL pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC - no_errors HDC HGNC ENSG00000140287 182 0 0 133 43 24.4318 WDR72 0 genome.wustl.edu 37 15 53908071 53908071 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 53908071 53908071 T - DEL WDR72 ENST00000360509 human ensembl 74_37 -1 known frame_shift_del c.2332 p.M778fs 0.082 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR72 HGNC ENSG00000166415 405 0 0 322 55 14.5889 RFX7 0 genome.wustl.edu 37 15 56386881 56386881 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 56386881 56386881 G - DEL RFX7 ENST00000423270 human ensembl 74_37 -1 known frame_shift_del c.3045 p.S1016fs 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX7 HGNC ENSG00000181827 114 0 0 50 24 32.4324 ZNF280D 0 genome.wustl.edu 37 15 56958908 56958908 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 56958908 56958908 T - DEL ZNF280D ENST00000267807 human ensembl 74_37 -1 known frame_shift_del c.1822 p.S608fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280D HGNC ENSG00000137871 61 0 0 26 14 35 NEIL1 0 genome.wustl.edu 37 15 75644674 75644674 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 15 75644674 75644674 C - DEL NEIL1 ENST00000355059 human ensembl 74_37 +1 known frame_shift_del c.564 p.F191fs 1.000 pfam_DNA_glyclase/AP_lyase_DNA-bd,superfamily_Ribosomal_S13-like_H2TH pfam_Endonuclease-VIII_DNA-bd,pfam_DNA_glycosylase/AP_lyase_cat,pfam_DNA_glyclase/AP_lyase_DNA-bd,superfamily_DNA_glycosylase/AP_lyase_cat,superfamily_Ribosomal_S13-like_H2TH,smart_DNA_glycosylase/AP_lyase_cat,pfscan_DNA_glycosylase/AP_lyase_cat - no_errors NEIL1 HGNC ENSG00000140398 113 0 0 94 25 21.0084 TICRR 0 genome.wustl.edu 37 15 90167670 90167670 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 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 304 0 0 181 96 34.657 TVP23A 0 genome.wustl.edu 37 16 10867203 10867203 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 10867203 10867203 A - DEL TVP23A ENST00000299866 human ensembl 74_37 -1 known frame_shift_del c.420 p.F140fs 1.000 pfam_DUF846_euk pfam_DUF846_euk - no_errors TVP23A HGNC ENSG00000166676 80 0 0 122 13 9.62963 NDE1 0 genome.wustl.edu 37 16 15788046 15788046 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 15788046 15788046 C - DEL NDE1 ENST00000396353 human ensembl 74_37 +1 known frame_shift_del c.728 p.L245fs 0.982 pfam_NUDE_C pfam_NUDE_C - no_errors NDE1 HGNC ENSG00000072864 48 0 0 55 13 19.1176 NUBP2 0 genome.wustl.edu 37 16 1836796 1836796 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 1836796 1836796 C - DEL NUBP2 ENST00000262302 human ensembl 74_37 +1 known frame_shift_del c.174 p.R60fs 0.649 pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_ATPase_MipZ/NubP2/Cfd1,superfamily_P-loop_NTPase pfam_ATPase-like_ParA/MinD,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_ATPase_MipZ/NubP2/Cfd1,pfam_Anion-transp_ATPase-like_dom,pfam_ArgK,superfamily_P-loop_NTPase - no_errors NUBP2 HGNC ENSG00000095906 50 0 0 34 20 37.037 LOC81691 0 genome.wustl.edu 37 16 20843544 20843544 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 20843544 20843544 A - DEL LOC81691 ENST00000261377 human ensembl 74_37 +1 known frame_shift_del c.1225 p.N410fs 0.002 NULL pfam_Exonuclease_RNaseT/DNA_pol3,pfam_RRM_dom,superfamily_RNaseH-like_dom,smart_Exonuclease,smart_RRM_dom,pfscan_RRM_dom - no_errors AC004381.6 Clone_based_vega_gene ENSG00000005189 64 0 0 62 23 27.0588 PALB2 0 genome.wustl.edu 37 16 23646981 23646981 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 23646981 23646981 T - DEL PALB2 ENST00000261584 human ensembl 74_37 -1 known frame_shift_del c.886 p.M296fs 0.000 NULL superfamily_WD40_repeat_dom - no_errors PALB2 HGNC ENSG00000083093 187 0 0 146 83 36.2445 ERN2 0 genome.wustl.edu 37 16 23703340 23703340 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 23703340 23703340 G - DEL ERN2 ENST00000256797 human ensembl 74_37 -1 known frame_shift_del c.2464 p.Q822fs 0.000 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_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom - no_errors ERN2 HGNC ENSG00000134398 428 0 0 376 145 27.8311 ATXN2L 0 genome.wustl.edu 37 16 28847350 28847350 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 28847350 28847350 G - DEL ATXN2L ENST00000395547 human ensembl 74_37 +1 known frame_shift_del c.2992 p.1002fs 1.000 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2L HGNC ENSG00000168488 157 0 0 169 36 17.561 ZNF668 0 genome.wustl.edu 37 16 31072706 31072706 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 31072706 31072706 G - DEL ZNF668 ENST00000426488 human ensembl 74_37 -1 known frame_shift_del c.1612 p.Q538fs 0.963 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF668 HGNC ENSG00000167394 145 0 0 111 45 28.8462 CREBBP 0 genome.wustl.edu 37 16 3843434 3843434 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 3843434 3843434 T - DEL CREBBP ENST00000262367 human ensembl 74_37 -1 known frame_shift_del c.1169 p.N390fs 1.000 pfam_Znf_TAZ,superfamily_Znf_TAZ,smart_Znf_TAZ,pfscan_Znf_TAZ pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 253 0 0 171 67 28.1513 GPR97 0 genome.wustl.edu 37 16 57717983 57717984 + Frame_Shift_Ins INS - - G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 57717983 57717984 - G INS GPR97 ENST00000333493 human ensembl 74_37 +1 known frame_shift_ins c.1021_1022 p.A343fs 0.000:0.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56 - no_errors GPR97 HGNC ENSG00000182885 144 0 0 198 33 14.2857 SF3B3 0 genome.wustl.edu 37 16 70605046 70605046 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 70605046 70605046 C - DEL SF3B3 ENST00000302516 human ensembl 74_37 +1 known frame_shift_del c.3457 p.P1154fs 1.000 pfam_Cleavage/polyA-sp_fac_asu_C pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom - no_errors SF3B3 HGNC ENSG00000189091 253 0 0 233 76 24.5955 CYBA 0 genome.wustl.edu 37 16 88713177 88713204 + Frame_Shift_Del DEL GGCCCGAACATAGTAATTCCTGGTAAAG GGCCCGAACATAGTAATTCCTGGTAAAG - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 GGCCCGAACATAGTAATTCCTGGTAAAG GGCCCGAACATAGTAATTCCTGGTAAAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 16 88713177 88713204 GGCCCGAACATAGTAATTCCTGGTAAAG - DEL CYBA ENST00000261623 human ensembl 74_37 -1 known frame_shift_del c.273_246 p.F83fs 0.900:0.996:0.995:0.991:1.000:1.000:1.000:0.988:0.123:0.340:0.991:1.000:1.000:1.000:1.000:0.975:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.999:0.997:0.999:0.987:0.952 pfam_Cyt_b558_asu,pirsf_Cyt_b558_asu pfam_Cyt_b558_asu,pirsf_Cyt_b558_asu - no_errors CYBA HGNC ENSG00000051523 110 0 0 89 9 9.18367 ENSG00000205325 0 genome.wustl.edu 37 17 14673543 14673543 + RNA DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 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 83 0 0 90 10 10 GAS2L2 0 genome.wustl.edu 37 17 34077135 34077135 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 34077135 34077135 G - DEL GAS2L2 ENST00000254466 human ensembl 74_37 -1 known frame_shift_del c.588 p.R197fs 0.719 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L2 HGNC ENSG00000132139 47 0 0 29 19 39.5833 SRCIN1 0 genome.wustl.edu 37 17 36707420 36707421 + Frame_Shift_Ins INS - - G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 36707420 36707421 - G INS SRCIN1 ENST00000264659 human ensembl 74_37 -1 known frame_shift_ins c.2933_2932 p.R978fs 0.999:1.000 NULL pfam_AIP3_C - no_errors SRCIN1 HGNC ENSG00000017373 29 0 0 32 11 25.5814 WIPF2 0 genome.wustl.edu 37 17 38430089 38430089 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 38430089 38430089 C - DEL WIPF2 ENST00000323571 human ensembl 74_37 +1 known frame_shift_del c.1018 p.P341fs 1.000 NULL smart_WH2_dom,pfscan_WH2_dom - no_errors WIPF2 HGNC ENSG00000171475 81 0 0 105 13 11.0169 ZZEF1 0 genome.wustl.edu 37 17 3947670 3947671 + Splice_Site INS - - A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 3947670 3947671 - A INS ZZEF1 ENST00000381638 human ensembl 74_37 -1 known splice_site_ins c.6016-3_6016-2 e38-2 0.934:0.745 - - - no_errors ZZEF1 HGNC ENSG00000074755 68 0 0 67 9 11.8421 PELP1 0 genome.wustl.edu 37 17 4575894 4575894 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 4575894 4575894 G - DEL PELP1 ENST00000301396 human ensembl 74_37 -1 known frame_shift_del c.2824 p.L942fs 0.989 NULL pfam_Uncharacterised_NUC202,superfamily_ARM-type_fold - no_errors PELP1 HGNC ENSG00000141456 28 0 0 20 13 39.3939 XYLT2 0 genome.wustl.edu 37 17 48433967 48433967 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 48433967 48433967 C - DEL XYLT2 ENST00000017003 human ensembl 74_37 +1 known frame_shift_del c.1578 p.G529fs 1.000 pfam_XylT pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 115 0 0 92 31 25.2033 CAMTA2 0 genome.wustl.edu 37 17 4875738 4875738 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 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 38 0 0 43 14 24.5614 PRR11 0 genome.wustl.edu 37 17 57247171 57247171 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 57247171 57247171 A - DEL PRR11 ENST00000262293 human ensembl 74_37 +1 known frame_shift_del c.58 p.E23fs 0.749 NULL NULL - no_errors PRR11 HGNC ENSG00000068489 85 0 0 92 16 14.8148 CEP95 0 genome.wustl.edu 37 17 62529013 62529014 + Frame_Shift_Del DEL TA TA - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 62529013 62529014 TA - DEL CEP95 ENST00000556440 human ensembl 74_37 +1 known frame_shift_del c.1729_1730 p.Y577fs 1.000:0.998 NULL superfamily_CH-domain - no_errors CEP95 HGNC ENSG00000258890 67 0 0 38 19 33.3333 BPTF 0 genome.wustl.edu 37 17 65907557 65907557 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 65907557 65907557 A - DEL BPTF ENST00000321892 human ensembl 74_37 +1 known frame_shift_del c.3935 p.N1313fs 0.003 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 53 0 0 56 7 11.1111 ABCA10 0 genome.wustl.edu 37 17 67218780 67218780 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 67218780 67218780 T - DEL ABCA10 ENST00000269081 human ensembl 74_37 -1 known frame_shift_del c.93 p.K31fs 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ENSG00000154263 107 0 0 90 30 25 MIF4GD 0 genome.wustl.edu 37 17 73263638 73263641 + Frame_Shift_Del DEL CTGT CTGT - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 CTGT CTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 73263638 73263641 CTGT - DEL MIF4GD ENST00000577542 human ensembl 74_37 -1 known frame_shift_del c.545_542 p.D181fs 1.000:1.000:1.000:1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold - no_errors MIF4GD HGNC ENSG00000125457 87 0 0 98 37 27.4074 DNAH17 0 genome.wustl.edu 37 17 76425216 76425217 + Frame_Shift_Ins INS - - G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 76425216 76425217 - G INS DNAH17 ENST00000389840 human ensembl 74_37 -1 known frame_shift_ins c.12373_12372 p.N4124fs 1.000:0.993 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 206 0 0 188 61 24.498 CARD14 0 genome.wustl.edu 37 17 78172264 78172264 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 78172264 78172264 G - DEL CARD14 ENST00000344227 human ensembl 74_37 +1 known frame_shift_del c.1725 p.D577fs 1.000 pfscan_PDZ pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD,pfscan_PDZ,pfscan_Guanylate_kin-like - no_errors CARD14 HGNC ENSG00000141527 93 0 0 77 46 37.3984 RNF213 0 genome.wustl.edu 37 17 78320756 78320756 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 78320756 78320756 C - DEL RNF213 ENST00000582970 human ensembl 74_37 +1 known frame_shift_del c.8621 p.H2876fs 0.003 superfamily_P-loop_NTPase,smart_AAA+_ATPase superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 27 0 0 28 8 22.2222 MYH10 0 genome.wustl.edu 37 17 8415786 8415786 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 17 8415786 8415786 T - DEL MYH10 ENST00000396239 human ensembl 74_37 -1 known frame_shift_del c.2905 p.M969fs 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 65 0 0 41 22 34.9206 TTC39C 0 genome.wustl.edu 37 18 21662977 21662977 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 18 21662977 21662977 A - DEL TTC39C ENST00000317571 human ensembl 74_37 +1 known frame_shift_del c.916 p.E308fs 1.000 pfam_OMP_IML2_mit/TPR_39 pfam_OMP_IML2_mit/TPR_39,pfam_Cohesin_loading_factor - no_errors TTC39C HGNC ENSG00000168234 191 0 0 136 46 25.2747 COLEC12 0 genome.wustl.edu 37 18 321746 321747 + Frame_Shift_Del DEL CA CA - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 18 321746 321747 CA - DEL COLEC12 ENST00000400256 human ensembl 74_37 -1 known frame_shift_del c.2125_2124 p.A709fs 1.000:0.750 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin 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 348 0 0 340 51 13.0435 FHOD3 0 genome.wustl.edu 37 18 34205516 34205516 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 18 34205516 34205516 C - DEL FHOD3 ENST00000257209 human ensembl 74_37 +1 known frame_shift_del c.1000 p.S336fs 0.999 superfamily_ARM-type_fold pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD3 HGNC ENSG00000134775 81 0 0 51 31 37.8049 MBD2 0 genome.wustl.edu 37 18 51750459 51750459 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 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 37 0 0 36 6 14.2857 VPS4B 0 genome.wustl.edu 37 18 61067333 61067334 + Frame_Shift_Ins INS - - T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 18 61067333 61067334 - T INS VPS4B ENST00000238497 human ensembl 74_37 -1 known frame_shift_ins c.738_737 p.N246fs 1.000:1.000 pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase - no_errors VPS4B HGNC ENSG00000119541 120 0 0 94 43 31.3869 ICAM3 0 genome.wustl.edu 37 19 10446011 10446011 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 10446011 10446011 G - DEL ICAM3 ENST00000160262 human ensembl 74_37 -1 known frame_shift_del c.668 p.P223fs 0.000 NULL pfam_ICAM_N,smart_Ig_sub,pfscan_Ig-like_dom,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM3 HGNC ENSG00000076662 38 0 0 16 3 15.7895 ZNF791 0 genome.wustl.edu 37 19 12739124 12739125 + Frame_Shift_Del DEL AC AC - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 12739124 12739125 AC - DEL ZNF791 ENST00000343325 human ensembl 74_37 +1 known frame_shift_del c.781_782 p.M263fs 0.010:0.021 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 ZNF791 HGNC ENSG00000173875 90 0 0 51 22 30.137 MRI1 0 genome.wustl.edu 37 19 13882968 13882968 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 13882968 13882968 C - DEL MRI1 ENST00000040663 human ensembl 74_37 +1 known frame_shift_del c.983 p.H330fs 1.000 pfam_IF-2B-related,tigrfam_IF-2BI_MTNA,tigrfam_Initiation_fac_2B_a/b/d pfam_IF-2B-related,tigrfam_IF-2BI_MTNA,tigrfam_Initiation_fac_2B_a/b/d - no_errors MRI1 HGNC ENSG00000037757 129 0 0 51 36 41.3793 PODNL1 0 genome.wustl.edu 37 19 14046562 14046562 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 14046562 14046562 G - DEL PODNL1 ENST00000339560 human ensembl 74_37 -1 known frame_shift_del c.487 p.L163fs 0.980 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors PODNL1 HGNC ENSG00000132000 22 0 0 20 8 28.5714 DCAF15 0 genome.wustl.edu 37 19 14070217 14070220 + Frame_Shift_Del DEL CCGA CCGA - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 CCGA CCGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 14070217 14070220 CCGA - DEL DCAF15 ENST00000254337 human ensembl 74_37 +1 known frame_shift_del c.1145_1148 p.S382fs 0.000:0.000:0.998:1.000 NULL NULL - no_errors DCAF15 HGNC ENSG00000132017 101 0 0 104 13 11.1111 OR7C2 0 genome.wustl.edu 37 19 15052604 15052604 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 15052604 15052604 T - DEL OR7C2 ENST00000248072 human ensembl 74_37 +1 known frame_shift_del c.304 p.F104fs 0.012 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7C2 HGNC ENSG00000127529 87 0 0 65 22 25.2874 OCEL1 0 genome.wustl.edu 37 19 17337840 17337840 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 17337840 17337840 C - DEL OCEL1 ENST00000215061 human ensembl 74_37 +1 known frame_shift_del c.284 p.R97fs 0.001 NULL pfam_Occludin_RNApol2_elong_fac_ELL - no_errors OCEL1 HGNC ENSG00000099330 176 0 0 188 44 18.9655 NCAN 0 genome.wustl.edu 37 19 19329920 19329921 + Frame_Shift_Ins INS - - T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 19329920 19329921 - T INS NCAN ENST00000252575 human ensembl 74_37 +1 known frame_shift_ins c.270_271 p.L90fs 0.173:0.214 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd_dom,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,prints_AntifreezeII - no_errors NCAN HGNC ENSG00000130287 45 0 0 48 16 25 ZNF567 0 genome.wustl.edu 37 19 37210375 37210375 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 37210375 37210375 A - DEL ZNF567 ENST00000536254 human ensembl 74_37 +1 known frame_shift_del c.749 p.K252fs 0.991 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 ZNF567 HGNC ENSG00000189042 50 0 0 32 15 31.9149 FCGBP 0 genome.wustl.edu 37 19 40433821 40433822 + Frame_Shift_Ins INS - - G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 40433821 40433822 - G INS FCGBP ENST00000221347 human ensembl 74_37 -1 known frame_shift_ins c.448_447 p.G149fs 0.003:0.000 NULL 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 86 0 0 76 13 14.6067 MEGF8 0 genome.wustl.edu 37 19 42838298 42838298 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 42838298 42838298 G - DEL MEGF8 ENST00000251268 human ensembl 74_37 +1 known frame_shift_del c.491 p.G166fs 1.000 smart_EG-like_dom pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 40 0 0 46 11 19.2982 APOC1 0 genome.wustl.edu 37 19 45419666 45419666 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 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 30 0 0 31 12 27.907 GLTSCR1 0 genome.wustl.edu 37 19 48197891 48197891 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 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 22 0 0 44 3 6.38298 MAMSTR 0 genome.wustl.edu 37 19 49216596 49216596 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 49216596 49216596 G - DEL MAMSTR ENST00000318083 human ensembl 74_37 -1 known frame_shift_del c.1176 p.S393fs 1.000 NULL pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom - no_errors MAMSTR HGNC ENSG00000176909 25 0 0 29 8 21.6216 PPFIA3 0 genome.wustl.edu 37 19 49631327 49631329 + In_Frame_Del DEL AGA AGA - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 49631327 49631329 AGA - DEL PPFIA3 ENST00000334186 human ensembl 74_37 +1 known in_frame_del c.197_199 p.K67in_frame_del 1.000:0.997:1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA3 HGNC ENSG00000177380 25 0 0 27 2 6.89655 PTPRS 0 genome.wustl.edu 37 19 5222730 5222731 + Frame_Shift_Ins INS - - G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 5222730 5222731 - G INS PTPRS ENST00000372412 human ensembl 74_37 -1 known frame_shift_ins c.3076_3075 p.V1025fs 0.900:0.579 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 36 0 0 13 5 27.7778 U2AF2 0 genome.wustl.edu 37 19 56171886 56171887 + Frame_Shift_Ins INS - - C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 19 56171886 56171887 - C INS U2AF2 ENST00000308924 human ensembl 74_37 +1 known frame_shift_ins c.235_236 p.R81fs 0.998:1.000 tigrfam_U2AF_lg pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_U2AF_lg - no_errors U2AF2 HGNC ENSG00000063244 45 0 0 30 16 34.7826 ANAPC1 0 genome.wustl.edu 37 2 112614257 112614258 + Splice_Site INS - - T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 112614257 112614258 - T INS ANAPC1 ENST00000341068 human ensembl 74_37 -1 known splice_site_ins c.1450-2_1450-1 e12-1 0.994:0.992 - - - no_errors ANAPC1 HGNC ENSG00000153107 64 0 0 108 8 6.89655 ZC3H6 0 genome.wustl.edu 37 2 113067706 113067707 + Frame_Shift_Ins INS - - A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 113067706 113067707 - A INS ZC3H6 ENST00000343936 human ensembl 74_37 +1 known frame_shift_ins c.581_582 p.Q197fs 1.000:0.998 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H6 HGNC ENSG00000188177 35 0 0 19 6 24 EPB41L5 0 genome.wustl.edu 37 2 120889210 120889211 + Frame_Shift_Del DEL AG AG - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 120889210 120889211 AG - DEL EPB41L5 ENST00000263713 human ensembl 74_37 +1 known frame_shift_del c.1518_1519 p.K508fs 0.973:0.994 NULL pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L5 HGNC ENSG00000115109 103 0 0 76 32 29.6296 RAB3GAP1 0 genome.wustl.edu 37 2 135893332 135893332 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 135893332 135893332 T - DEL RAB3GAP1 ENST00000264158 human ensembl 74_37 +1 known frame_shift_del c.1753 p.F586fs 1.000 NULL NULL - no_errors RAB3GAP1 HGNC ENSG00000115839 95 0 0 88 11 11.1111 FIGN 0 genome.wustl.edu 37 2 164467489 164467489 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 164467489 164467489 G - DEL FIGN ENST00000333129 human ensembl 74_37 -1 known frame_shift_del c.853 p.L285fs 1.000 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGN HGNC ENSG00000182263 116 0 0 67 32 32.3232 CSRNP3 0 genome.wustl.edu 37 2 166535340 166535340 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 166535340 166535340 A - DEL CSRNP3 ENST00000314499 human ensembl 74_37 +1 known frame_shift_del c.835 p.N280fs 1.000 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP3 HGNC ENSG00000178662 92 0 0 44 24 35.2941 KCNS3 0 genome.wustl.edu 37 2 18113028 18113029 + Frame_Shift_Ins INS - - A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 18113028 18113029 - A INS KCNS3 ENST00000304101 human ensembl 74_37 +1 known frame_shift_ins c.753_754 p.N252fs 1.000:0.998 pfam_Ion_trans_dom,prints_K_chnl,prints_K_chnl_volt-dep_Kv2 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 158 0 0 136 62 31.3131 ZNF804A 0 genome.wustl.edu 37 2 185801911 185801912 + Frame_Shift_Ins INS - - A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 185801911 185801912 - A INS ZNF804A ENST00000302277 human ensembl 74_37 +1 known frame_shift_ins c.1788_1789 p.R598fs 1.000:1.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 110 0 0 98 7 6.66667 SLC39A10 0 genome.wustl.edu 37 2 196545516 196545516 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 196545516 196545516 T - DEL SLC39A10 ENST00000359634 human ensembl 74_37 +1 known frame_shift_del c.750 p.P253fs 0.176 NULL pfam_ZIP - no_errors SLC39A10 HGNC ENSG00000196950 112 0 0 92 49 34.7518 DNAH7 0 genome.wustl.edu 37 2 196801373 196801374 + Frame_Shift_Ins INS - - A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 196801373 196801374 - A INS DNAH7 ENST00000312428 human ensembl 74_37 -1 known frame_shift_ins c.3222_3221 p.L1074fs 1.000:1.000 pfam_Dynein_heavy_dom-2 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 86 0 0 74 24 24.4898 ZDBF2 0 genome.wustl.edu 37 2 207174428 207174428 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 207174428 207174428 A - DEL ZDBF2 ENST00000374423 human ensembl 74_37 +1 known frame_shift_del c.5176 p.K1728fs 0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 61 0 0 49 18 26.8657 ZDBF2 0 genome.wustl.edu 37 2 207174869 207174869 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 207174869 207174869 A - DEL ZDBF2 ENST00000374423 human ensembl 74_37 +1 known frame_shift_del c.5617 p.K1875fs 0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 66 0 0 41 23 35.9375 UNC80 0 genome.wustl.edu 37 2 210650858 210650859 + Frame_Shift_Ins INS - - C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 210650858 210650859 - C INS UNC80 ENST00000439458 human ensembl 74_37 +1 known frame_shift_ins c.669_670 p.G224fs 1.000:1.000 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 120 0 0 103 22 17.6 ABCA12 0 genome.wustl.edu 37 2 215884317 215884317 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 215884317 215884317 T - DEL ABCA12 ENST00000272895 human ensembl 74_37 -1 known frame_shift_del c.1491 p.V498fs 0.826 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 100 0 0 88 19 17.757 COL4A3 0 genome.wustl.edu 37 2 228137810 228137810 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 228137810 228137810 C - DEL COL4A3 ENST00000396578 human ensembl 74_37 +1 known frame_shift_del c.1904 p.G637fs 0.857 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A3 HGNC ENSG00000169031 111 0 0 48 20 29.4118 TMEM178A 0 genome.wustl.edu 37 2 39893267 39893267 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 39893267 39893267 C - DEL TMEM178A ENST00000281961 human ensembl 74_37 +1 known frame_shift_del c.153 p.P53fs 1.000 NULL NULL - no_errors TMEM178A HGNC ENSG00000152154 12 0 0 11 2 15.3846 MSH2 0 genome.wustl.edu 37 2 47637247 47637248 + Frame_Shift_Del DEL TC TC - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 47637247 47637248 TC - DEL MSH2 ENST00000233146 human ensembl 74_37 +1 known frame_shift_del c.381_382 p.Q130fs 1.000:1.000 pfam_DNA_mismatch_repair_MutS-lik_N,pirsf_DNA_mismatch_repair_MSH2 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_MSH2 - no_errors MSH2 HGNC ENSG00000095002 391 0 0 185 162 46.6859 MSH6 0 genome.wustl.edu 37 2 48030692 48030692 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 48030692 48030692 T - DEL MSH6 ENST00000234420 human ensembl 74_37 +1 known frame_shift_del c.3306 p.F1104fs 0.298 pfam_DNA_mismatch_repair_MutS_C,superfamily_P-loop_NTPase,pirsf_DNA_mismatch_repair_Msh6 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP_dom,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_PWWP_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP_dom - no_errors MSH6 HGNC ENSG00000116062 149 0 0 96 20 17.2414 KIDINS220 0 genome.wustl.edu 37 2 8871749 8871749 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 8871749 8871749 G - DEL KIDINS220 ENST00000256707 human ensembl 74_37 -1 known frame_shift_del c.4417 p.L1473fs 1.000 NULL pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 120 0 0 95 22 18.8034 EIF2AK3 0 genome.wustl.edu 37 2 88874269 88874270 + Frame_Shift_Del DEL CT CT - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 88874269 88874270 CT - DEL EIF2AK3 ENST00000303236 human ensembl 74_37 -1 known frame_shift_del c.2732_2731 p.R911fs 0.973:0.970 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EIF2AK3 HGNC ENSG00000172071 186 0 0 211 34 13.8776 ZNF2 0 genome.wustl.edu 37 2 95847120 95847120 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 95847120 95847120 T - DEL ZNF2 ENST00000340539 human ensembl 74_37 +1 known frame_shift_del c.547 p.F184fs 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF2 HGNC ENSG00000163067 109 0 0 97 33 25.3846 FAHD2A 0 genome.wustl.edu 37 2 96078466 96078466 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 96078466 96078466 C - DEL FAHD2A ENST00000233379 human ensembl 74_37 +1 known frame_shift_del c.836 p.P281fs 0.997 pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel - no_errors FAHD2A HGNC ENSG00000115042 45 0 0 55 18 24.6575 STARD7 0 genome.wustl.edu 37 2 96859066 96859067 + Frame_Shift_Ins INS - - T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 96859066 96859067 - T INS STARD7 ENST00000337288 human ensembl 74_37 -1 known frame_shift_ins c.574_573 p.W191fs 1.000:1.000 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 STARD7 HGNC ENSG00000084090 137 0 0 157 31 16.4894 SNRNP200 0 genome.wustl.edu 37 2 96952162 96952162 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 2 96952162 96952162 G - DEL SNRNP200 ENST00000323853 human ensembl 74_37 -1 known frame_shift_del c.3890 p.P1297fs 1.000 superfamily_P-loop_NTPase 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 172 0 0 161 66 29.0749 CD93 0 genome.wustl.edu 37 20 23065992 23065992 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 23065992 23065992 C - DEL CD93 ENST00000246006 human ensembl 74_37 -1 known frame_shift_del c.838 p.D280fs 0.033 pirsf_CD93/CD141,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom 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 232 0 0 229 25 9.84252 CST1 0 genome.wustl.edu 37 20 23729754 23729754 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 23729754 23729754 C - DEL CST1 ENST00000304749 human ensembl 74_37 -1 known frame_shift_del c.241 p.V81fs 0.000 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST1 HGNC ENSG00000170373 207 0 0 169 78 31.5789 DSN1 0 genome.wustl.edu 37 20 35390884 35390884 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 35390884 35390884 T - DEL DSN1 ENST00000373745 human ensembl 74_37 -1 known frame_shift_del c.570 p.K190fs 1.000 pfam_Dsn1/Mis13 pfam_Dsn1/Mis13 - no_errors DSN1 HGNC ENSG00000149636 37 0 0 39 23 37.0968 NNAT 0 genome.wustl.edu 37 20 36151130 36151131 + Frame_Shift_Ins INS - - G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 36151130 36151131 - G INS NNAT ENST00000062104 human ensembl 74_37 +1 known frame_shift_ins c.215_216 p.E74fs 0.998:1.000 NULL NULL - no_errors NNAT HGNC ENSG00000053438 30 0 0 24 5 17.2414 VSTM2L 0 genome.wustl.edu 37 20 36572417 36572420 + Frame_Shift_Del DEL AGCT AGCT - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 AGCT AGCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 36572417 36572420 AGCT - DEL VSTM2L ENST00000373461 human ensembl 74_37 +1 known frame_shift_del c.377_380 p.K126fs 1.000:1.000:1.000:1.000 pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors VSTM2L HGNC ENSG00000132821 26 0 0 32 12 27.2727 SIGLEC1 0 genome.wustl.edu 37 20 3678674 3678674 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 3678674 3678674 G - DEL SIGLEC1 ENST00000344754 human ensembl 74_37 -1 known frame_shift_del c.1893 p.A632fs 0.002 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC1 HGNC ENSG00000088827 48 0 0 35 4 10.2564 GDAP1L1 0 genome.wustl.edu 37 20 42907848 42907848 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 42907848 42907848 C - DEL GDAP1L1 ENST00000342560 human ensembl 74_37 +1 known frame_shift_del c.1012 p.P339fs 1.000 NULL pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like - no_errors GDAP1L1 HGNC ENSG00000124194 154 0 0 152 46 23.2323 ADNP 0 genome.wustl.edu 37 20 49509399 49509400 + Frame_Shift_Ins INS - - T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 49509399 49509400 - T INS ADNP ENST00000349014 human ensembl 74_37 -1 known frame_shift_ins c.1852_1851 p.D617fs 1.000:0.985 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP HGNC ENSG00000101126 403 0 0 309 143 31.6372 PCK1 0 genome.wustl.edu 37 20 56140816 56140817 + Frame_Shift_Del DEL GA GA - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 56140816 56140817 GA - DEL PCK1 ENST00000319441 human ensembl 74_37 +1 known frame_shift_del c.1825_1826 p.E611fs 0.285:0.300 pfam_PEP_carboxykinase_GTP,pirsf_PEP_carboxykinase_GTP pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP - no_errors PCK1 HGNC ENSG00000124253 65 0 0 51 20 28.169 SYCP2 0 genome.wustl.edu 37 20 58467047 58467047 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 58467047 58467047 T - DEL SYCP2 ENST00000357552 human ensembl 74_37 -1 known frame_shift_del c.2362 p.M788fs 0.029 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 64 0 0 52 5 8.77193 FAM217B 0 genome.wustl.edu 37 20 58519406 58519406 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 58519406 58519406 A - DEL FAM217B ENST00000358293 human ensembl 74_37 +1 known frame_shift_del c.408 p.K137fs 0.000 NULL NULL - no_errors FAM217B HGNC ENSG00000196227 134 0 0 101 32 24.0602 YTHDF1 0 genome.wustl.edu 37 20 61834924 61834924 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 20 61834924 61834924 A - DEL YTHDF1 ENST00000370339 human ensembl 74_37 -1 known frame_shift_del c.368 p.F123fs 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDF1 HGNC ENSG00000149658 87 0 0 58 37 38.9474 NRIP1 0 genome.wustl.edu 37 21 16338330 16338330 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 21 16338330 16338330 T - DEL NRIP1 ENST00000318948 human ensembl 74_37 -1 known frame_shift_del c.2184 p.E729fs 0.998 NULL NULL - no_errors NRIP1 HGNC ENSG00000180530 89 0 0 79 10 11.236 SCAF4 0 genome.wustl.edu 37 21 33073349 33073350 + Frame_Shift_Ins INS - - T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 21 33073349 33073350 - T INS SCAF4 ENST00000286835 human ensembl 74_37 -1 known frame_shift_ins c.736_735 p.A245fs 1.000:1.000 NULL pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF4 HGNC ENSG00000156304 130 0 0 99 21 17.5 ITSN1 0 genome.wustl.edu 37 21 35237482 35237483 + Frame_Shift_Ins INS - - G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 21 35237482 35237483 - G INS ITSN1 ENST00000381285 human ensembl 74_37 +1 known frame_shift_ins c.3918_3919 p.E1307fs 0.003:1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,superfamily_P-loop_NTPase,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN1 HGNC ENSG00000205726 30 0 0 33 8 19.5122 TTC3 0 genome.wustl.edu 37 21 38538053 38538054 + Frame_Shift_Ins INS - - A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 21 38538053 38538054 - A INS TTC3 ENST00000354749 human ensembl 74_37 +1 known frame_shift_ins c.3537_3538 p.R1181fs 0.999:0.996 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 314 0 0 172 91 34.6008 DSCAM 0 genome.wustl.edu 37 21 41385179 41385180 + Frame_Shift_Ins INS - - G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 21 41385179 41385180 - G INS DSCAM ENST00000400454 human ensembl 74_37 -1 known frame_shift_ins c.5821_5820 p.T1940fs 0.996:0.998 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 87 0 0 52 16 23.5294 TRPM2 0 genome.wustl.edu 37 21 45786736 45786736 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 21 45786736 45786736 G - DEL TRPM2 ENST00000300482 human ensembl 74_37 +1 known frame_shift_del c.523 p.A177fs 0.996 NULL pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 80 0 0 56 18 24.3243 ITGB2 0 genome.wustl.edu 37 21 46330678 46330678 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 21 46330678 46330678 G - DEL ITGB2 ENST00000302347 human ensembl 74_37 -1 known frame_shift_del c.20 p.P7fs 0.000 pirsf_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB2 HGNC ENSG00000160255 43 0 0 45 9 16.6667 TUBA3FP 0 genome.wustl.edu 37 22 21363319 21363319 + RNA DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 22 21363319 21363319 G - DEL TUBA3FP ENST00000292748 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors TUBA3FP HGNC ENSG00000161149 77 0 0 23 25 52.0833 DNAJB7 0 genome.wustl.edu 37 22 41257751 41257753 + In_Frame_Del DEL TCA TCA - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 TCA TCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 22 41257751 41257753 TCA - DEL DNAJB7 ENST00000307221 human ensembl 74_37 -1 known in_frame_del c.248_246 p.D82in_frame_del 0.010:0.012:0.010 superfamily_ConA-like_lec_gl_sf pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_ConA-like_lec_gl_sf,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB7 HGNC ENSG00000172404 271 0 0 102 85 45.4545 ALG12 0 genome.wustl.edu 37 22 50297990 50297991 + Frame_Shift_Ins INS - - G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 22 50297990 50297991 - G INS ALG12 ENST00000330817 human ensembl 74_37 -1 known frame_shift_ins c.1157_1156 p.Q386fs 0.074:0.002 NULL pfam_GPI_mannosylTrfase - no_errors ALG12 HGNC ENSG00000182858 79 0 0 47 6 11.3208 FBXO40 0 genome.wustl.edu 37 3 121341633 121341633 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 121341633 121341633 G - DEL FBXO40 ENST00000338040 human ensembl 74_37 +1 known frame_shift_del c.1357 p.G454fs 0.000 NULL superfamily_F-box_dom,superfamily_TRAF-like,pfscan_F-box_dom,pfscan_Znf_TRAF - no_errors FBXO40 HGNC ENSG00000163833 101 0 0 73 27 27 EAF2 0 genome.wustl.edu 37 3 121573569 121573569 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 121573569 121573569 A - DEL EAF2 ENST00000273668 human ensembl 74_37 +1 known frame_shift_del c.237 p.K81fs 1.000 pfam_Tscrpt_elong_fac_Eaf_N pfam_Tscrpt_elong_fac_Eaf_N - no_errors EAF2 HGNC ENSG00000145088 47 0 0 40 9 18.3673 ZBTB38 0 genome.wustl.edu 37 3 141164024 141164024 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 141164024 141164024 A - DEL ZBTB38 ENST00000321464 human ensembl 74_37 +1 known frame_shift_del c.2797 p.M935fs 0.570 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 70 0 0 56 14 20 ANKRD28 0 genome.wustl.edu 37 3 15756165 15756166 + Splice_Site INS - - G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 15756165 15756166 - G INS ANKRD28 ENST00000383777 human ensembl 74_37 -1 known splice_site_ins c.1006-3_1006-2 e9-2 1.000:0.998 - - - no_errors ANKRD28 HGNC ENSG00000206560 28 0 0 26 12 31.5789 GFM1 0 genome.wustl.edu 37 3 158363466 158363467 + Frame_Shift_Ins INS - - A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 158363466 158363467 - A INS GFM1 ENST00000486715 human ensembl 74_37 +1 known frame_shift_ins c.130_131 p.I46fs 1.000:1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,tigrfam_Transl_elong_EFG/EF2,tigrfam_Small_GTP-bd_dom 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_Transl_elong_EFG/EF2,tigrfam_Small_GTP-bd_dom - no_errors GFM1 HGNC ENSG00000168827 146 0 0 73 33 31.1321 ZBBX 0 genome.wustl.edu 37 3 167023670 167023670 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 167023670 167023670 T - DEL ZBBX ENST00000307529 human ensembl 74_37 -1 known frame_shift_del c.1486 p.I496fs 0.000 NULL pfam_Znf_B-box - no_errors ZBBX HGNC ENSG00000169064 50 0 0 26 16 38.0952 GOLIM4 0 genome.wustl.edu 37 3 167728581 167728581 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 167728581 167728581 T - DEL GOLIM4 ENST00000470487 human ensembl 74_37 -1 known frame_shift_del c.1891 p.R631fs 0.970 NULL NULL - no_errors GOLIM4 HGNC ENSG00000173905 251 0 0 187 42 18.3406 ATP13A3 0 genome.wustl.edu 37 3 194140681 194140682 + Frame_Shift_Ins INS - - A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 194140681 194140682 - A INS ATP13A3 ENST00000256031 human ensembl 74_37 -1 known frame_shift_ins c.3329_3328 p.S1110fs 1.000:0.990 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,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A3 HGNC ENSG00000133657 45 0 0 12 11 47.8261 THRB 0 genome.wustl.edu 37 3 24206518 24206519 + Frame_Shift_Ins INS - - T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 24206518 24206519 - T INS THRB ENST00000280696 human ensembl 74_37 -1 putative frame_shift_ins c.328_327 p.G109fs 1.000:1.000 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_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors THRB HGNC ENSG00000151090 50 0 0 58 12 17.1429 ANO10 0 genome.wustl.edu 37 3 43647212 43647213 + Frame_Shift_Ins INS - - T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 43647212 43647213 - T INS ANO10 ENST00000292246 human ensembl 74_37 -1 known frame_shift_ins c.133_132 p.D44fs 1.000:1.000 NULL pfam_Anoctamin - no_errors ANO10 HGNC ENSG00000160746 106 0 0 107 11 9.32203 ZDHHC3 0 genome.wustl.edu 37 3 44968294 44968294 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 44968294 44968294 T - DEL ZDHHC3 ENST00000296127 human ensembl 74_37 -1 known frame_shift_del c.871 p.T291fs 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC3 HGNC ENSG00000163812 65 0 0 65 14 17.7215 SLC26A6 0 genome.wustl.edu 37 3 48666128 48666129 + Frame_Shift_Ins INS - - C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 48666128 48666129 - C INS SLC26A6 ENST00000395550 human ensembl 74_37 -1 known frame_shift_ins c.1619_1618 p.V540fs 1.000:0.967 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A6 HGNC ENSG00000225697 56 0 0 51 7 12.069 DOCK3 0 genome.wustl.edu 37 3 51417604 51417604 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 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 78 0 0 47 26 35.6164 PXK 0 genome.wustl.edu 37 3 58368271 58368271 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 58368271 58368271 A - DEL PXK ENST00000356151 human ensembl 74_37 +1 known frame_shift_del c.232 p.K79fs 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Phox,superfamily_Kinase-like_dom,smart_Phox,pfscan_Phox,pfscan_WH2_dom,pfscan_Prot_kinase_dom - no_errors PXK HGNC ENSG00000168297 98 0 0 67 18 21.1765 FAM86DP 0 genome.wustl.edu 37 3 75480039 75480040 + RNA INS - - CA TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 75480039 75480040 - CA INS FAM86DP ENST00000459803 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors FAM86DP HGNC ENSG00000244026 46 0 0 39 14 26.4151 FILIP1L 0 genome.wustl.edu 37 3 99568705 99568706 + Frame_Shift_Ins INS - - T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 3 99568705 99568706 - T INS FILIP1L ENST00000354552 human ensembl 74_37 -1 known frame_shift_ins c.1815_1814 p.N605fs 1.000:1.000 NULL pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin - no_errors FILIP1L HGNC ENSG00000168386 199 0 0 102 54 34.6154 KIAA1109 0 genome.wustl.edu 37 4 123271208 123271209 + Frame_Shift_Ins INS - - A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 123271208 123271209 - A INS KIAA1109 ENST00000264501 human ensembl 74_37 +1 known frame_shift_ins c.13828_13829 p.S4612fs 1.000:1.000 pfam_Fragile_site-assoc_C pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 166 0 0 97 53 35.3333 INPP4B 0 genome.wustl.edu 37 4 143007332 143007332 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 143007332 143007332 T - DEL INPP4B ENST00000509777 human ensembl 74_37 -1 known frame_shift_del c.2452 p.R818fs 1.000 NULL superfamily_C2_dom - no_errors INPP4B HGNC ENSG00000109452 83 0 0 54 11 16.9231 GRIA2 0 genome.wustl.edu 37 4 158262473 158262475 + In_Frame_Del DEL CTC CTC - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 158262473 158262475 CTC - DEL GRIA2 ENST00000264426 human ensembl 74_37 +1 known in_frame_del c.1902_1904 p.S636in_frame_del 1.000:1.000:1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,prints_NMDA_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA2 HGNC ENSG00000120251 250 0 0 201 73 26.6423 DOK7 0 genome.wustl.edu 37 4 3495150 3495150 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 3495150 3495150 C - DEL DOK7 ENST00000389653 human ensembl 74_37 +1 known frame_shift_del c.1437 p.H481fs 0.466 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors DOK7 HGNC ENSG00000175920 13 0 0 7 5 41.6667 TBC1D1 0 genome.wustl.edu 37 4 38097685 38097685 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 38097685 38097685 A - DEL TBC1D1 ENST00000261439 human ensembl 74_37 +1 known frame_shift_del c.2372 p.M793fs 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D1 HGNC ENSG00000065882 177 0 0 153 39 20.3125 CNGA1 0 genome.wustl.edu 37 4 47939172 47939172 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 4 47939172 47939172 T - DEL CNGA1 ENST00000402813 human ensembl 74_37 -1 known frame_shift_del c.1546 p.T516fs 1.000 superfamily_cNMP-bd-like pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA1 HGNC ENSG00000198515 310 0 0 239 54 18.43 SLCO6A1 0 genome.wustl.edu 37 5 101794149 101794149 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 101794149 101794149 A - DEL SLCO6A1 ENST00000379807 human ensembl 74_37 -1 known frame_shift_del c.1068 p.F356fs 0.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO6A1 HGNC ENSG00000205359 116 0 0 86 18 17.3077 KDM3B 0 genome.wustl.edu 37 5 137756625 137756625 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 137756625 137756625 C - DEL KDM3B ENST00000314358 human ensembl 74_37 +1 known frame_shift_del c.3946 p.P1317fs 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC ENSG00000120733 139 0 0 108 21 16.2791 SLC23A1 0 genome.wustl.edu 37 5 138716491 138716492 + Frame_Shift_Ins INS - - G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 138716491 138716492 - G INS SLC23A1 ENST00000353963 human ensembl 74_37 -1 known frame_shift_ins c.393_392 p.E132fs 0.002:0.007 pfam_Xant/urac/vitC pfam_Xant/urac/vitC - no_errors SLC23A1 HGNC ENSG00000170482 12 0 0 4 2 33.3333 PPARGC1B 0 genome.wustl.edu 37 5 149212972 149212974 + In_Frame_Del DEL GAG GAG - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 149212972 149212974 GAG - DEL PPARGC1B ENST00000309241 human ensembl 74_37 +1 known in_frame_del c.1336_1338 p.E449in_frame_del 0.984:0.988:0.988 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1B HGNC ENSG00000155846 18 0 0 8 4 33.3333 TCOF1 0 genome.wustl.edu 37 5 149755011 149755011 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 149755011 149755011 C - DEL TCOF1 ENST00000451292 human ensembl 74_37 +1 known frame_shift_del c.1598 p.S535fs 0.000 pfam_TCS_treacle pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS - no_errors TCOF1 HGNC ENSG00000070814 132 0 0 82 24 22.6415 HAND1 0 genome.wustl.edu 37 5 153857162 153857163 + Frame_Shift_Del DEL AG AG - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 153857162 153857163 AG - DEL HAND1 ENST00000231121 human ensembl 74_37 -1 known frame_shift_del c.407_406 p.L136fs 1.000:0.995 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors HAND1 HGNC ENSG00000113196 122 0 0 80 36 31.0345 GRM6 0 genome.wustl.edu 37 5 178418555 178418555 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 178418555 178418555 C - DEL GRM6 ENST00000231188 human ensembl 74_37 -1 known frame_shift_del c.727 p.V243fs 0.986 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM6 HGNC ENSG00000113262 282 0 0 237 44 15.6584 GNB2L1 0 genome.wustl.edu 37 5 180664038 180664039 + Frame_Shift_Del DEL AG AG - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 180664038 180664039 AG - DEL GNB2L1 ENST00000512805 human ensembl 74_37 -1 known frame_shift_del c.893_892 p.L298fs 1.000:1.000 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 GNB2L1 HGNC ENSG00000204628 51 0 0 36 4 10 FBXO4 0 genome.wustl.edu 37 5 41934430 41934430 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 41934430 41934430 T - DEL FBXO4 ENST00000296812 human ensembl 74_37 +1 known frame_shift_del c.918 p.*308fs 0.009 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO4 HGNC ENSG00000151876 79 0 0 51 7 12.069 FLJ33360 0 genome.wustl.edu 37 5 6312456 6312457 + RNA INS - - A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 6312456 6312457 - A INS FLJ33360 ENST00000507444 human ensembl 74_37 -1 known rna NULL NULL 0.005:0.001 - - - no_errors CTD-2324F15.2 Clone_based_vega_gene ENSG00000250490 13 0 0 4 2 33.3333 SREK1IP1 0 genome.wustl.edu 37 5 64050152 64050152 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 64050152 64050152 T - DEL SREK1IP1 ENST00000513458 human ensembl 74_37 -1 known frame_shift_del c.51 p.K17fs 1.000 superfamily_Znf_CCHC,pfscan_Znf_CCHC superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors SREK1IP1 HGNC ENSG00000153006 118 0 0 89 8 8.24742 IQGAP2 0 genome.wustl.edu 37 5 75927724 75927724 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 75927724 75927724 A - DEL IQGAP2 ENST00000274364 human ensembl 74_37 +1 known frame_shift_del c.1653 p.K553fs 0.000 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP - no_errors IQGAP2 HGNC ENSG00000145703 88 0 0 43 13 23.2143 AP3B1 0 genome.wustl.edu 37 5 77334907 77334907 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 77334907 77334907 T - DEL AP3B1 ENST00000255194 human ensembl 74_37 -1 known frame_shift_del c.2769 p.K923fs 0.419 pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta - no_errors AP3B1 HGNC ENSG00000132842 70 0 0 60 12 16.6667 HAPLN1 0 genome.wustl.edu 37 5 82948434 82948434 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 82948434 82948434 T - DEL HAPLN1 ENST00000274341 human ensembl 74_37 -1 known frame_shift_del c.310 p.T104fs 1.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link - no_errors HAPLN1 HGNC ENSG00000145681 230 0 0 160 30 15.7895 GPR98 0 genome.wustl.edu 37 5 90106341 90106342 + Frame_Shift_Ins INS - - T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 90106341 90106342 - T INS GPR98 ENST00000405460 human ensembl 74_37 +1 known frame_shift_ins c.15264_15265 p.Y5090fs 0.951:0.001 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 117 0 0 53 38 41.7582 KIAA0825 0 genome.wustl.edu 37 5 93856536 93856537 + Frame_Shift_Ins INS - - A TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 93856536 93856537 - A INS KIAA0825 ENST00000427991 human ensembl 74_37 -1 known frame_shift_ins c.387_386 p.S131fs 1.000:0.992 NULL NULL - no_errors KIAA0825 HGNC ENSG00000185261 51 0 0 44 8 15.3846 RHOBTB3 0 genome.wustl.edu 37 5 95072635 95072635 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 5 95072635 95072635 G - DEL RHOBTB3 ENST00000379982 human ensembl 74_37 +1 known frame_shift_del c.271 p.G92fs 0.998 pfam_Small_GTPase,superfamily_P-loop_NTPase pfam_BTB_POZ,pfam_Small_GTPase,superfamily_BTB/POZ_fold,superfamily_P-loop_NTPase,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors RHOBTB3 HGNC ENSG00000164292 124 0 0 71 21 22.8261 GCNT2 0 genome.wustl.edu 37 6 10557410 10557410 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 10557410 10557410 C - DEL GCNT2 ENST00000316170 human ensembl 74_37 +1 known frame_shift_del c.754 p.H254fs 1.000 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT2 HGNC ENSG00000111846 131 0 0 110 114 50.8929 FAM26D 0 genome.wustl.edu 37 6 116879071 116879072 + Frame_Shift_Del DEL CT CT - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 116879071 116879072 CT - DEL FAM26D ENST00000368596 human ensembl 74_37 +1 known frame_shift_del c.642_643 p.L216fs 1.000:1.000 NULL NULL - no_errors FAM26D HGNC ENSG00000164451 159 0 0 142 30 17.4419 MED23 0 genome.wustl.edu 37 6 131917158 131917158 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 131917158 131917158 A - DEL MED23 ENST00000368058 human ensembl 74_37 -1 known frame_shift_del c.2942 p.L981fs 1.000 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC ENSG00000112282 218 0 0 155 28 15.3005 HECA 0 genome.wustl.edu 37 6 139488146 139488147 + Frame_Shift_Ins INS - - G TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 139488146 139488147 - G INS HECA ENST00000367658 human ensembl 74_37 +1 known frame_shift_ins c.997_998 p.H336fs 1.000:1.000 superfamily_Glycoside_hydrolase_SF superfamily_Glycoside_hydrolase_SF - no_errors HECA HGNC ENSG00000112406 135 0 0 109 22 16.7939 GPR126 0 genome.wustl.edu 37 6 142736194 142736194 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 142736194 142736194 T - DEL GPR126 ENST00000367609 human ensembl 74_37 +1 known frame_shift_del c.2630 p.S879fs 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_CUB_dom,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Pentaxin,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR126 HGNC ENSG00000112414 68 0 0 69 9 11.5385 HIVEP2 0 genome.wustl.edu 37 6 143086006 143086006 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 143086006 143086006 T - DEL HIVEP2 ENST00000012134 human ensembl 74_37 -1 known frame_shift_del c.5448 p.K1816fs 0.982 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 74 0 0 63 10 13.6986 HIVEP2 0 genome.wustl.edu 37 6 143095843 143095843 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 143095843 143095843 T - DEL HIVEP2 ENST00000012134 human ensembl 74_37 -1 known frame_shift_del c.33 p.A12fs 0.954 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 296 0 0 279 40 12.5392 PHACTR2 0 genome.wustl.edu 37 6 144081696 144081696 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 144081696 144081696 A - DEL PHACTR2 ENST00000440869 human ensembl 74_37 +1 known frame_shift_del c.613 p.N207fs 1.000 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR2 HGNC ENSG00000112419 78 0 0 47 28 37.3333 SHPRH 0 genome.wustl.edu 37 6 146275964 146275964 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 146275964 146275964 T - DEL SHPRH ENST00000367503 human ensembl 74_37 -1 known frame_shift_del c.495 p.E166fs 0.391 NULL 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 111 0 0 102 12 10.5263 PLEKHG1 0 genome.wustl.edu 37 6 151152789 151152789 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 151152789 151152789 A - DEL PLEKHG1 ENST00000358517 human ensembl 74_37 +1 known frame_shift_del c.2542 p.N849fs 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG1 HGNC ENSG00000120278 165 0 0 107 14 11.5702 SYNE1 0 genome.wustl.edu 37 6 152751776 152751776 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 152751776 152751776 A - DEL SYNE1 ENST00000265368 human ensembl 74_37 -1 known frame_shift_del c.4530 p.F1510fs 1.000 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 341 0 0 195 100 33.8983 MYCT1 0 genome.wustl.edu 37 6 153019117 153019117 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 153019117 153019117 T - DEL MYCT1 ENST00000367245 human ensembl 74_37 +1 known frame_shift_del c.80 p.F29fs 0.997 NULL NULL - no_errors MYCT1 HGNC ENSG00000120279 78 0 0 43 23 34.8485 HIST1H1A 0 genome.wustl.edu 37 6 26017548 26017548 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 26017548 26017548 T - DEL HIST1H1A ENST00000244573 human ensembl 74_37 -1 known frame_shift_del c.413 p.K138fs 1.000 NULL pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1A HGNC ENSG00000124610 278 0 0 227 272 54.509 SCAND3 0 genome.wustl.edu 37 6 28542708 28542708 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 28542708 28542708 T - DEL SCAND3 ENST00000452236 human ensembl 74_37 -1 known frame_shift_del c.1774 p.S592fs 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC ENSG00000232040 48 0 0 36 70 66.0377 NOTCH4 0 genome.wustl.edu 37 6 32178635 32178635 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 32178635 32178635 G - DEL NOTCH4 ENST00000375023 human ensembl 74_37 -1 known frame_shift_del c.2759 p.P920fs 0.998 pirsf_Notch,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_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 73 0 0 148 16 9.7561 CUL9 0 genome.wustl.edu 37 6 43155053 43155054 + Frame_Shift_Del DEL AG AG - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 43155053 43155054 AG - DEL CUL9 ENST00000252050 human ensembl 74_37 +1 known frame_shift_del c.1457_1458 p.K487fs 0.887:0.400 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 262 0 0 200 40 16.6667 GTPBP2 0 genome.wustl.edu 37 6 43592411 43592413 + In_Frame_Del DEL GAA GAA - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 43592411 43592413 GAA - DEL GTPBP2 ENST00000307126 human ensembl 74_37 -1 known in_frame_del c.936_934 p.F312in_frame_del 1.000:1.000:1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel - no_errors GTPBP2 HGNC ENSG00000172432 79 0 0 93 9 8.82353 TDRD6 0 genome.wustl.edu 37 6 46658609 46658609 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 46658609 46658609 A - DEL TDRD6 ENST00000316081 human ensembl 74_37 +1 known frame_shift_del c.2744 p.N917fs 0.695 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 175 0 0 102 62 37.8049 PTCHD4 0 genome.wustl.edu 37 6 48036112 48036112 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 48036112 48036112 G - DEL PTCHD4 ENST00000339488 human ensembl 74_37 -1 known frame_shift_del c.280 p.L94fs 1.000 NULL pfam_Patched,pfscan_SSD - no_errors PTCHD4 HGNC ENSG00000244694 165 0 0 97 40 29.1971 FILIP1 0 genome.wustl.edu 37 6 76124575 76124576 + Frame_Shift_Ins INS - - T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 76124575 76124576 - T INS FILIP1 ENST00000237172 human ensembl 74_37 -1 known frame_shift_ins c.114_113 p.K39fs 1.000:1.000 NULL pfam_Cortactin-binding_p2_N,prints_Tropomyosin - no_errors FILIP1 HGNC ENSG00000118407 372 0 0 299 35 10.479 FILIP1 0 genome.wustl.edu 37 6 76124598 76124598 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 76124598 76124598 T - DEL FILIP1 ENST00000237172 human ensembl 74_37 -1 known frame_shift_del c.91 p.S31fs 0.857 NULL pfam_Cortactin-binding_p2_N,prints_Tropomyosin - no_errors FILIP1 HGNC ENSG00000118407 307 0 0 254 20 7.29927 TTK 0 genome.wustl.edu 37 6 80751897 80751897 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 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 58 0 0 34 11 24.4444 DOPEY1 0 genome.wustl.edu 37 6 83848062 83848063 + Frame_Shift_Ins INS - - T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 6 83848062 83848063 - T INS DOPEY1 ENST00000349129 human ensembl 74_37 +1 known frame_shift_ins c.4301_4302 p.Y1436fs 1.000:1.000 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 307 0 0 189 43 18.5345 C7orf50 0 genome.wustl.edu 37 7 1037311 1037311 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 1037311 1037311 G - DEL C7orf50 ENST00000357429 human ensembl 74_37 -1 known frame_shift_del c.535 p.L179fs 0.001 NULL pfam_DUF2373 - no_errors C7orf50 HGNC ENSG00000146540 49 0 0 56 9 13.8462 LAMB4 0 genome.wustl.edu 37 7 107763584 107763584 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 107763584 107763584 A - DEL LAMB4 ENST00000205386 human ensembl 74_37 -1 known frame_shift_del c.26 p.L9fs 0.768 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB4 HGNC ENSG00000091128 122 0 0 62 34 35.4167 C7orf34 0 genome.wustl.edu 37 7 142636732 142636732 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 142636732 142636732 C - DEL C7orf34 ENST00000409607 human ensembl 74_37 +1 known frame_shift_del c.89 p.Q32fs 0.999 NULL NULL - no_errors C7orf34 HGNC ENSG00000165131 63 0 0 57 10 14.9254 NOS3 0 genome.wustl.edu 37 7 150698398 150698398 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 150698398 150698398 G - DEL NOS3 ENST00000297494 human ensembl 74_37 +1 known frame_shift_del c.1313 p.G440fs 1.000 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS3 HGNC ENSG00000164867 111 0 0 112 20 15.1515 ITGB8 0 genome.wustl.edu 37 7 20371449 20371450 + Frame_Shift_Ins INS - - T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 20371449 20371450 - T INS ITGB8 ENST00000222573 human ensembl 74_37 +1 known frame_shift_ins c.20_21 p.T10fs 0.625:0.529 pirsf_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_EGF_extracell,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB8 HGNC ENSG00000105855 49 0 0 55 30 35.2941 VPS41 0 genome.wustl.edu 37 7 38869900 38869900 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 38869900 38869900 A - DEL VPS41 ENST00000310301 human ensembl 74_37 -1 known frame_shift_del c.275 p.L92fs 1.000 superfamily_WD40_repeat_dom,pirsf_VPS41 pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_VPS41,pfscan_Znf_RING - no_errors VPS41 HGNC ENSG00000006715 745 0 0 866 119 12.0812 DTX2 0 genome.wustl.edu 37 7 76112249 76112249 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 7 76112249 76112249 A - DEL DTX2 ENST00000324432 human ensembl 74_37 +1 known frame_shift_del c.693 p.H232fs 0.794 NULL pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX2 HGNC ENSG00000091073 406 0 0 458 69 13.093 UBR5 0 genome.wustl.edu 37 8 103289349 103289349 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 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 210 0 0 239 30 11.1524 EIF3E 0 genome.wustl.edu 37 8 109240554 109240557 + Frame_Shift_Del DEL AAAC AAAC - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 AAAC AAAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 109240554 109240557 AAAC - DEL EIF3E ENST00000220849 human ensembl 74_37 -1 known frame_shift_del c.664_661 p.V221fs 1.000:1.000:1.000:1.000 pirsf_eIF3e pfam_eIF3e_N,pfam_PCI_dom,smart_PCI_dom,pirsf_eIF3e - no_errors EIF3E HGNC ENSG00000104408 164 0 0 173 35 16.8269 FER1L6 0 genome.wustl.edu 37 8 125061917 125061917 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 125061917 125061917 C - DEL FER1L6 ENST00000399018 human ensembl 74_37 +1 known frame_shift_del c.2794 p.R934fs 1.000 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom - no_errors FER1L6 HGNC ENSG00000214814 90 0 0 108 19 14.9606 PHF20L1 0 genome.wustl.edu 37 8 133826909 133826909 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 133826909 133826909 A - DEL PHF20L1 ENST00000395386 human ensembl 74_37 +1 putative frame_shift_del c.958 p.N322fs 1.000 NULL pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Tudor-like_plant - no_errors PHF20L1 HGNC ENSG00000129292 137 0 0 117 41 25.9494 AGO2 0 genome.wustl.edu 37 8 141561430 141561430 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 141561430 141561430 G - DEL AGO2 ENST00000220592 human ensembl 74_37 -1 known frame_shift_del c.1375 p.Q459fs 1.000 NULL pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO2 HGNC ENSG00000123908 122 0 0 216 53 19.7026 SPATC1 0 genome.wustl.edu 37 8 145095141 145095141 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 145095141 145095141 C - DEL SPATC1 ENST00000377470 human ensembl 74_37 +1 known frame_shift_del c.543 p.L183fs 0.954 NULL NULL - no_errors SPATC1 HGNC ENSG00000186583 40 0 0 44 8 15.3846 OPLAH 0 genome.wustl.edu 37 8 145109979 145109979 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 145109979 145109979 G - DEL OPLAH ENST00000426825 human ensembl 74_37 -1 known frame_shift_del c.2362 p.H788fs 1.000 pfam_Hydantoinase_B pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N - no_errors OPLAH HGNC ENSG00000178814 26 0 0 18 8 30.7692 OPLAH 0 genome.wustl.edu 37 8 145114852 145114852 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 145114852 145114852 C - DEL OPLAH ENST00000426825 human ensembl 74_37 -1 known frame_shift_del c.84 p.H29fs 0.920 pfam_Hydant_A_N pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N - no_errors OPLAH HGNC ENSG00000178814 63 0 0 61 8 11.5942 ADCK5 0 genome.wustl.edu 37 8 145616191 145616191 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 145616191 145616191 C - DEL ADCK5 ENST00000308860 human ensembl 74_37 +1 known frame_shift_del c.478 p.E162fs 1.000 NULL pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK5 HGNC ENSG00000173137 47 0 0 73 4 5.19481 MTUS1 0 genome.wustl.edu 37 8 17601140 17601142 + In_Frame_Del DEL GAG GAG - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 17601140 17601142 GAG - DEL MTUS1 ENST00000262102 human ensembl 74_37 -1 known in_frame_del c.2260_2258 p.P753in_frame_del 0.933:0.000:0.006 NULL superfamily_Ferritin-like_SF - no_errors MTUS1 HGNC ENSG00000129422 142 0 0 165 28 14.5078 CHMP7 0 genome.wustl.edu 37 8 23106785 23106785 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 23106785 23106785 G - DEL CHMP7 ENST00000313219 human ensembl 74_37 +1 known frame_shift_del c.362 p.V123fs 1.000 NULL pfam_Snf7 - no_errors CHMP7 HGNC ENSG00000147457 93 0 0 111 24 17.7778 PRKDC 0 genome.wustl.edu 37 8 48701555 48701555 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 48701555 48701555 T - DEL PRKDC ENST00000314191 human ensembl 74_37 -1 known frame_shift_del c.10811 p.N3604fs 0.000 NULL pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,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 PRKDC HGNC ENSG00000253729 76 0 0 73 20 21.5054 RRS1 0 genome.wustl.edu 37 8 67341501 67341501 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 67341501 67341501 C - DEL RRS1 ENST00000320270 human ensembl 74_37 +1 known frame_shift_del c.135 p.P47fs 1.000 pfam_Ribosom_reg pfam_Ribosom_reg - no_errors RRS1 HGNC ENSG00000179041 13 0 0 14 8 36.3636 SULF1 0 genome.wustl.edu 37 8 70514026 70514026 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 70514026 70514026 T - DEL SULF1 ENST00000260128 human ensembl 74_37 +1 known frame_shift_del c.1023 p.F343fs 0.786 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 423 0 0 428 219 33.8485 JPH1 0 genome.wustl.edu 37 8 75157302 75157302 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 75157302 75157302 T - DEL JPH1 ENST00000342232 human ensembl 74_37 -1 known frame_shift_del c.1367 p.Y456fs 1.000 pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH1 HGNC ENSG00000104369 184 0 0 172 60 25.8621 PEX2 0 genome.wustl.edu 37 8 77896154 77896155 + Frame_Shift_Ins INS - - T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 8 77896154 77896155 - T INS PEX2 ENST00000357039 human ensembl 74_37 -1 known frame_shift_ins c.261_260 p.N87fs 0.980:1.000 pfam_Pex_N pfam_Pex_N,smart_Znf_RING,pfscan_Znf_RING - no_errors PEX2 HGNC ENSG00000164751 64 0 0 47 27 36.4865 MURC 0 genome.wustl.edu 37 9 103340768 103340768 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 103340768 103340768 A - DEL MURC ENST00000307584 human ensembl 74_37 +1 known frame_shift_del c.343 p.V117fs 0.992 NULL NULL - no_errors MURC HGNC ENSG00000170681 147 0 0 70 34 32.6923 PBX3 0 genome.wustl.edu 37 9 128728156 128728158 + In_Frame_Del DEL CTC CTC - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 128728156 128728158 CTC - DEL PBX3 ENST00000373489 human ensembl 74_37 +1 known in_frame_del c.1259_1261 p.P421in_frame_del 1.000:0.998:1.000 NULL pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PBX3 HGNC ENSG00000167081 275 0 0 176 86 32.8244 MPDZ 0 genome.wustl.edu 37 9 13113979 13113980 + Frame_Shift_Del DEL AG AG - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 13113979 13113980 AG - DEL MPDZ ENST00000319217 human ensembl 74_37 -1 known frame_shift_del c.5508_5507 p.S1836fs 0.999:0.997 superfamily_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 11 0 0 9 8 47.0588 SET 0 genome.wustl.edu 37 9 131456206 131456207 + In_Frame_Ins INS - - AGAAGA TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 131456206 131456207 - AGAAGA INS SET ENST00000372692 human ensembl 74_37 +1 known in_frame_ins c.734_735 p.248in_frame_insEE 1.000:0.989 NULL pfam_NAP_family - no_errors SET HGNC ENSG00000119335 96 0 0 67 7 9.45946 FIBCD1 0 genome.wustl.edu 37 9 133799256 133799256 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 133799256 133799256 G - DEL FIBCD1 ENST00000372338 human ensembl 74_37 -1 known frame_shift_del c.724 p.R242fs 0.701 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FIBCD1 HGNC ENSG00000130720 90 0 0 76 15 16.4835 LAMC3 0 genome.wustl.edu 37 9 133936593 133936594 + Frame_Shift_Ins INS - - C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 133936593 133936594 - C INS LAMC3 ENST00000361069 human ensembl 74_37 +1 known frame_shift_ins c.2330_2331 p.G781fs 1.000:1.000 pfam_EGF_laminin,smart_EG-like_dom,smart_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 32 0 0 45 4 8.16327 RECK 0 genome.wustl.edu 37 9 36112461 36112461 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 36112461 36112461 A - DEL RECK ENST00000377966 human ensembl 74_37 +1 known frame_shift_del c.2048 p.N685fs 0.002 NULL pfam_Kazal_dom,superfamily_Prot_inh_PMP,smart_Kazal_dom - no_errors RECK HGNC ENSG00000122707 65 0 0 51 17 25 GLIS3 0 genome.wustl.edu 37 9 3879545 3879545 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 3879545 3879545 C - DEL GLIS3 ENST00000381971 human ensembl 74_37 -1 known frame_shift_del c.2179 p.A727fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS3 HGNC ENSG00000107249 77 0 0 80 27 25.2336 RANBP6 0 genome.wustl.edu 37 9 6012690 6012690 + Frame_Shift_Del DEL T T - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 6012690 6012690 T - DEL RANBP6 ENST00000259569 human ensembl 74_37 -1 known frame_shift_del c.2918 p.N973fs 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors RANBP6 HGNC ENSG00000137040 108 0 0 78 36 31.5789 PIP5K1B 0 genome.wustl.edu 37 9 71509429 71509432 + Frame_Shift_Del DEL AAAG AAAG - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 AAAG AAAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 71509429 71509432 AAAG - DEL PIP5K1B ENST00000478500 human ensembl 74_37 +1 known frame_shift_del c.766_769 p.K256fs 1.000:1.000:0.999:1.000 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 PIP5K1B HGNC ENSG00000107242 166 0 0 123 24 16.3265 TLE1 0 genome.wustl.edu 37 9 84199147 84199148 + Frame_Shift_Ins INS - - C TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 84199147 84199148 - C INS TLE1 ENST00000376499 human ensembl 74_37 -1 known frame_shift_ins c.2279_2278 p.D760fs 1.000:1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE1 HGNC ENSG00000196781 118 0 0 80 32 28.5714 KIF27 0 genome.wustl.edu 37 9 86452186 86452186 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 86452186 86452186 G - DEL KIF27 ENST00000297814 human ensembl 74_37 -1 known frame_shift_del c.3936 p.S1313fs 0.992 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF27 HGNC ENSG00000165115 185 0 0 147 35 19.2308 PHF2 0 genome.wustl.edu 37 9 96428119 96428119 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 9 96428119 96428119 A - DEL PHF2 ENST00000359246 human ensembl 74_37 +1 known frame_shift_del c.2089 p.N698fs 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 199 0 0 166 37 18.2266 BCORL1 0 genome.wustl.edu 37 X 129190011 129190011 + Frame_Shift_Del DEL C C - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 X 129190011 129190011 C - DEL BCORL1 ENST00000303743 human ensembl 74_37 +1 known frame_shift_del c.5258 p.P1755fs 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 141 0 0 103 29 21.9697 SLC9A6 0 genome.wustl.edu 37 X 135080645 135080646 + Frame_Shift_Ins INS - - T TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 X 135080645 135080646 - T INS SLC9A6 ENST00000370695 human ensembl 74_37 +1 known frame_shift_ins c.608_609 p.R206fs 1.000:1.000 pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A6 HGNC ENSG00000198689 105 0 0 58 31 34.8315 SLC9A7 0 genome.wustl.edu 37 X 46466404 46466404 + Frame_Shift_Del DEL G G - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 X 46466404 46466404 G - DEL SLC9A7 ENST00000328306 human ensembl 74_37 -1 known frame_shift_del c.2161 p.L721fs 0.929 NULL pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A7 HGNC ENSG00000065923 137 0 0 45 17 27.4194 FAM133A 0 genome.wustl.edu 37 X 92964569 92964569 + Frame_Shift_Del DEL A A - TCGA-CG-4460-01A-01D-1158-08 TCGA-CG-4460-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b79d62d-1500-4193-b48c-048581dd2003 bcc5cd9d-de36-4ac1-bb97-b78f43276a89 X 92964569 92964569 A - DEL FAM133A ENST00000322139 human ensembl 74_37 +1 known frame_shift_del c.151 p.T53fs 0.964 NULL NULL - no_errors FAM133A HGNC ENSG00000179083 37 0 0 14 11 44