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 SLC35A3 0 genome.wustl.edu 37 1 100480964 100480964 + Silent SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 100480964 100480964 A G SNP SLC35A3 ENST00000370153 human ensembl 74_37 +1 known silent c.867 p.V289 0.860 pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt pfam_Nuc_sug_transpt,pfam_UAA,pfam_DMT,pfam_Tpt_PEP_trans_dom,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt - no_errors SLC35A3 HGNC ENSG00000117620 51 0 0 62 9 12.6761 AMY2B 0 genome.wustl.edu 37 1 104114826 104114826 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 104114826 104114826 C A SNP AMY2B ENST00000361355 human ensembl 74_37 +1 known missense c.263 p.S88Y 1.000 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,prints_Alpha_amylase pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2B HGNC ENSG00000240038 182 0 0 166 23 12.1693 CORT 0 genome.wustl.edu 37 1 10510133 10510133 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 10510133 10510133 G A SNP CORT ENST00000320498 human ensembl 74_37 +1 known missense c.3 p.M1I 0.002 NULL pfam_Somatostatin/Cortistatin_C - no_errors CORT HGNC ENSG00000241563 216 0 0 214 37 14.741 SARS 0 genome.wustl.edu 37 1 109756660 109756660 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 109756660 109756660 C A SNP SARS ENST00000369923 human ensembl 74_37 +1 known missense c.46 p.P16T 1.000 pfam_Ser-tRNA-synth_1_N,superfamily_tRNA-bd_arm,pirsf_Ser-tRNA-ligase_type_1,tigrfam_Ser-tRNA-ligase_type_1 pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Ser-tRNA-synth_1_N,superfamily_tRNA-bd_arm,pirsf_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,prints_Ser-tRNA-ligase_type_1,tigrfam_Ser-tRNA-ligase_type_1 - no_errors SARS HGNC ENSG00000031698 43 0 0 55 8 12.6984 AMPD2 0 genome.wustl.edu 37 1 110173646 110173646 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 110173646 110173646 A G SNP AMPD2 ENST00000256578 human ensembl 74_37 +1 known missense c.2512 p.I838V 1.000 pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD2 HGNC ENSG00000116337 29 0 0 42 4 8.69565 GSTM4 0 genome.wustl.edu 37 1 110201405 110201405 + RNA SNP T T G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 110201405 110201405 T G SNP GSTM4 ENST00000493171 human ensembl 74_37 +1 known rna NULL NULL 0.015 - - - no_errors GSTM4 HGNC ENSG00000168765 52 0 0 46 9 16.3636 CSF1 0 genome.wustl.edu 37 1 110459942 110459942 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 110459942 110459942 G A SNP CSF1 ENST00000329608 human ensembl 74_37 +1 known missense c.253 p.A85T 1.000 pfam_MCSF-1,superfamily_4_helix_cytokine-like_core,pirsf_MCSF-1 pfam_MCSF-1,superfamily_4_helix_cytokine-like_core,pirsf_MCSF-1 - no_errors CSF1 HGNC ENSG00000184371 204 0 0 237 26 9.88593 AHCYL1 0 genome.wustl.edu 37 1 110561200 110561200 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 110561200 110561200 G A SNP AHCYL1 ENST00000369799 human ensembl 74_37 +1 known silent c.1245 p.T415 0.285 pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_IlvN,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase - no_errors AHCYL1 HGNC ENSG00000168710 47 0 0 45 8 15.0943 KCND3 0 genome.wustl.edu 37 1 112525054 112525054 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 112525054 112525054 G A SNP KCND3 ENST00000315987 human ensembl 74_37 -1 known missense c.295 p.R99C 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 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 103 0 0 108 18 14.2857 IGSF3 0 genome.wustl.edu 37 1 117146314 117146314 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 117146314 117146314 G A SNP IGSF3 ENST00000318837 human ensembl 74_37 -1 known missense c.1616 p.A539V 0.994 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF3 HGNC ENSG00000143061 65 0 0 67 8 10.6667 PTGFRN 0 genome.wustl.edu 37 1 117487714 117487714 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 117487714 117487714 G T SNP PTGFRN ENST00000393203 human ensembl 74_37 +1 known missense c.832 p.V278F 1.000 pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PTGFRN HGNC ENSG00000134247 41 0 0 47 4 7.84314 MAN1A2 0 genome.wustl.edu 37 1 117910865 117910865 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 117910865 117910865 G A SNP MAN1A2 ENST00000356554 human ensembl 74_37 +1 known silent c.60 p.G20 1.000 NULL pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1A2 HGNC ENSG00000198162 122 0 0 119 13 9.84848 HMGCS2 0 genome.wustl.edu 37 1 120301892 120301892 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 120301892 120301892 G A SNP HMGCS2 ENST00000369406 human ensembl 74_37 -1 known silent c.699 p.T233 0.998 pfam_HMG_CoA_synt_C,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk pfam_HMG_CoA_synt_C,pfam_HMG_CoA_synth_N,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk - no_errors HMGCS2 HGNC ENSG00000134240 52 0 0 70 7 9.09091 NOTCH2 0 genome.wustl.edu 37 1 120458270 120458270 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 120458270 120458270 G A SNP NOTCH2 ENST00000256646 human ensembl 74_37 -1 known missense c.7075 p.P2359S 1.000 pirsf_Notch pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 139 0 0 145 17 10.4938 NOTCH2 0 genome.wustl.edu 37 1 120461946 120461946 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 120461946 120461946 C A SNP NOTCH2 ENST00000256646 human ensembl 74_37 -1 known missense c.5770 p.G1924C 1.000 pirsf_Notch,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 88 0 0 78 11 12.3596 ACAP3 0 genome.wustl.edu 37 1 1229825 1229825 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 1229825 1229825 G A SNP ACAP3 ENST00000353662 human ensembl 74_37 -1 known missense c.1871 p.A624V 0.015 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_ArfGAP,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,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 ACAP3 HGNC ENSG00000131584 11 0 0 12 4 25 CPSF3L 0 genome.wustl.edu 37 1 1248918 1248918 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 1248918 1248918 G A SNP CPSF3L ENST00000540437 human ensembl 74_37 -1 known missense c.1030 p.R344W 1.000 pfam_Beta_Casp pfam_Beta_Casp,pfam_Beta-lactamas-like,pfam_RMMBL,smart_Beta-lactamas-like - no_errors CPSF3L HGNC ENSG00000127054 71 0 0 58 11 15.942 TAS1R3 0 genome.wustl.edu 37 1 1268468 1268468 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 1268468 1268468 G T SNP TAS1R3 ENST00000339381 human ensembl 74_37 +1 known missense c.1443 p.E481D 0.000 superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R3 HGNC ENSG00000169962 32 0 0 30 3 9.09091 SEC22B 0 genome.wustl.edu 37 1 145103928 145103928 + RNA SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 145103928 145103928 G A SNP SEC22B ENST00000453618 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SEC22B HGNC ENSG00000223380 25 0 0 16 5 23.8095 ECM1 0 genome.wustl.edu 37 1 150483519 150483519 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 150483519 150483519 C T SNP ECM1 ENST00000369049 human ensembl 74_37 +1 known missense c.634 p.R212C 0.313 pfam_ECM1 pfam_ECM1,superfamily_Serum_albumin-like - no_errors ECM1 HGNC ENSG00000143369 207 0 0 260 36 12.1622 SETDB1 0 genome.wustl.edu 37 1 150936529 150936529 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 150936529 150936529 G A SNP SETDB1 ENST00000271640 human ensembl 74_37 +1 known missense c.3728 p.R1243H 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom 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 62 0 0 80 9 10.1124 PIP5K1A 0 genome.wustl.edu 37 1 151210663 151210663 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 151210663 151210663 G A SNP PIP5K1A ENST00000368888 human ensembl 74_37 +1 known missense c.1151 p.G384D 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 PIP5K1A HGNC ENSG00000143398 66 0 0 52 11 17.4603 TUFT1 0 genome.wustl.edu 37 1 151546755 151546755 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 151546755 151546755 A G SNP TUFT1 ENST00000538902 human ensembl 74_37 +1 known missense c.661 p.S221G 0.991 NULL superfamily_Prefoldin - no_errors TUFT1 HGNC ENSG00000143367 75 0 0 82 11 11.828 KPRP 0 genome.wustl.edu 37 1 152733782 152733782 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 152733782 152733782 A G SNP KPRP ENST00000368773 human ensembl 74_37 +1 known missense c.1718 p.E573G 0.063 NULL NULL - no_errors KPRP HGNC ENSG00000203786 70 0 0 64 6 8.57143 NUP210L 0 genome.wustl.edu 37 1 154127427 154127427 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 154127427 154127427 G A SNP NUP210L ENST00000368559 human ensembl 74_37 -1 known missense c.94 p.R32C 0.000 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 36 0 0 39 6 13.3333 AQP10 0 genome.wustl.edu 37 1 154295464 154295464 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 154295464 154295464 A G SNP AQP10 ENST00000324978 human ensembl 74_37 +1 known missense c.239 p.H80R 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 98 0 0 124 9 6.76692 PBXIP1 0 genome.wustl.edu 37 1 154918618 154918618 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 154918618 154918618 C T SNP PBXIP1 ENST00000542459 human ensembl 74_37 -1 known missense c.1067 p.R356K 0.008 NULL NULL - no_errors PBXIP1 HGNC ENSG00000163346 202 0 0 234 39 14.2857 DCST2 0 genome.wustl.edu 37 1 155005160 155005160 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 155005160 155005160 T C SNP DCST2 ENST00000368424 human ensembl 74_37 -1 known missense c.524 p.D175G 0.961 NULL pfam_DC_STAMP-like - no_errors DCST2 HGNC ENSG00000163354 101 0 0 83 12 12.6316 GBA 0 genome.wustl.edu 37 1 155208382 155208382 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 155208382 155208382 A G SNP GBA ENST00000327247 human ensembl 74_37 -1 known missense c.514 p.Y172H 0.959 pfam_Glyco_hydro_30,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_30 pfam_Glyco_hydro_30,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_30 - no_errors GBA HGNC ENSG00000177628 66 0 0 63 15 19.2308 PKLR 0 genome.wustl.edu 37 1 155263028 155263028 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 155263028 155263028 G A SNP PKLR ENST00000342741 human ensembl 74_37 -1 known missense c.1376 p.A459V 0.989 pfam_Pyrv_Knase_C,superfamily_Pyrv_Knase_C,tigrfam_Pyr_Knase pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase - no_errors PKLR HGNC ENSG00000143627 104 0 0 101 16 13.6752 GON4L 0 genome.wustl.edu 37 1 155736194 155736194 + Nonsense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 155736194 155736194 G A SNP GON4L ENST00000368331 human ensembl 74_37 -1 known nonsense c.3070 p.R1024* 0.000 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 121 0 0 128 14 9.85915 MEX3A 0 genome.wustl.edu 37 1 156046402 156046402 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 156046402 156046402 T C SNP MEX3A ENST00000532414 human ensembl 74_37 -1 known missense c.1526 p.H509R 1.000 pfscan_Znf_RING pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3A HGNC ENSG00000254726 60 0 0 46 8 14.8148 SMG5 0 genome.wustl.edu 37 1 156233269 156233269 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 156233269 156233269 T C SNP SMG5 ENST00000361813 human ensembl 74_37 -1 known missense c.1948 p.M650V 0.414 NULL pfam_EST1,smart_PIN_dom - no_errors SMG5 HGNC ENSG00000198952 110 0 0 134 17 11.2583 HAPLN2 0 genome.wustl.edu 37 1 156593317 156593317 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 156593317 156593317 G A SNP HAPLN2 ENST00000255039 human ensembl 74_37 +1 known missense c.35 p.R12H 0.000 NULL 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 HAPLN2 HGNC ENSG00000132702 45 0 0 50 9 15.2542 FCRL5 0 genome.wustl.edu 37 1 157490846 157490846 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 157490846 157490846 C T SNP FCRL5 ENST00000356953 human ensembl 74_37 -1 known missense c.2476 p.G826R 0.007 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL5 HGNC ENSG00000143297 95 0 0 88 11 11.1111 IGSF9 0 genome.wustl.edu 37 1 159900506 159900506 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 159900506 159900506 C T SNP IGSF9 ENST00000368094 human ensembl 74_37 -1 known missense c.1789 p.E597K 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 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 51 0 0 56 9 13.8462 ATP1A2 0 genome.wustl.edu 37 1 160106432 160106432 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 160106432 160106432 G A SNP ATP1A2 ENST00000361216 human ensembl 74_37 +1 known missense c.2636 p.R879Q 0.997 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_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 ATP1A2 HGNC ENSG00000018625 83 0 0 94 7 6.93069 B4GALT3 0 genome.wustl.edu 37 1 161144895 161144895 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 161144895 161144895 G A SNP B4GALT3 ENST00000319769 human ensembl 74_37 -1 known missense c.377 p.A126V 1.000 pfam_Galactosyl_T_C pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT3 HGNC ENSG00000158850 143 0 0 147 18 10.9091 HSPA6 0 genome.wustl.edu 37 1 161495457 161495457 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 161495457 161495457 G A SNP HSPA6 ENST00000309758 human ensembl 74_37 +1 known missense c.1009 p.V337I 0.959 pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA6 HGNC ENSG00000173110 29 0 0 43 4 8.51064 FCRLA 0 genome.wustl.edu 37 1 161681172 161681172 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 161681172 161681172 C A SNP FCRLA ENST00000367959 human ensembl 74_37 +1 known missense c.476 p.A159E 0.003 smart_Ig_sub,pfscan_Ig-like_dom smart_Ig_sub,pfscan_Ig-like_dom - no_errors FCRLA HGNC ENSG00000132185 62 0 0 63 10 13.6986 SPEN 0 genome.wustl.edu 37 1 16262530 16262530 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 16262530 16262530 T C SNP SPEN ENST00000375759 human ensembl 74_37 +1 known silent c.9795 p.G3265 0.015 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 109 1 0.909091 131 20 13.245 FBXO42 0 genome.wustl.edu 37 1 16580211 16580211 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 16580211 16580211 C A SNP FBXO42 ENST00000375592 human ensembl 74_37 -1 known missense c.783 p.W261C 1.000 pfam_Kelch_2,pfam_Kelch_1 pfam_Kelch_2,pfam_Kelch_1,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO42 HGNC ENSG00000037637 65 0 0 71 4 5.33333 CROCCP3 0 genome.wustl.edu 37 1 16817243 16817243 + RNA SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 16817243 16817243 C T SNP CROCCP3 ENST00000263511 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CROCCP3 HGNC ENSG00000080947 19 0 0 27 3 10 PADI3 0 genome.wustl.edu 37 1 17597615 17597615 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 17597615 17597615 C T SNP PADI3 ENST00000375460 human ensembl 74_37 +1 known missense c.989 p.A330V 0.987 pfam_PAD_C,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 PADI3 HGNC ENSG00000142619 43 0 0 57 6 9.52381 ARHGEF10L 0 genome.wustl.edu 37 1 17975156 17975156 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 17975156 17975156 G T SNP ARHGEF10L ENST00000361221 human ensembl 74_37 +1 known missense c.2380 p.A794S 1.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10L HGNC ENSG00000074964 43 0 0 51 12 19.0476 TOR1AIP2 0 genome.wustl.edu 37 1 179815697 179815697 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 179815697 179815697 G T SNP TOR1AIP2 ENST00000367612 human ensembl 74_37 -1 known missense c.922 p.L308M 1.000 pfam_Lamina-ass_polypeptide_CLAP1C pfam_Lamina-ass_polypeptide_CLAP1C - no_errors TOR1AIP2 HGNC ENSG00000169905 134 0 0 137 21 13.2911 TMEM52 0 genome.wustl.edu 37 1 1849798 1849798 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 1849798 1849798 G A SNP TMEM52 ENST00000310991 human ensembl 74_37 -1 known silent c.243 p.L81 0.983 NULL NULL - no_errors TMEM52 HGNC ENSG00000178821 44 0 0 52 4 7.14286 PRG4 0 genome.wustl.edu 37 1 186269238 186269238 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 186269238 186269238 C T SNP PRG4 ENST00000445192 human ensembl 74_37 +1 known missense c.92 p.A31V 1.000 pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,pfscan_Somatomedin_B_dom 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 108 0 0 99 17 14.6552 AKR7A2 0 genome.wustl.edu 37 1 19632540 19632540 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 19632540 19632540 C T SNP AKR7A2 ENST00000235835 human ensembl 74_37 -1 known missense c.890 p.R297Q 0.997 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom - no_errors AKR7A2 HGNC ENSG00000053371 105 0 0 77 19 19.7917 CAMSAP2 0 genome.wustl.edu 37 1 200730172 200730172 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 200730172 200730172 T C SNP CAMSAP2 ENST00000236925 human ensembl 74_37 +1 known silent c.345 p.T115 0.991 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC ENSG00000118200 87 0 0 97 14 12.6126 PKP1 0 genome.wustl.edu 37 1 201252855 201252855 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 201252855 201252855 G A SNP PKP1 ENST00000263946 human ensembl 74_37 +1 known missense c.25 p.A9T 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP1 HGNC ENSG00000081277 33 0 0 21 4 16 TNNT2 0 genome.wustl.edu 37 1 201330226 201330226 + RNA SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 201330226 201330226 G A SNP TNNT2 ENST00000460780 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TNNT2 HGNC ENSG00000118194 12 0 0 19 4 17.3913 NAV1 0 genome.wustl.edu 37 1 201778663 201778663 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 201778663 201778663 A G SNP NAV1 ENST00000367296 human ensembl 74_37 +1 known missense c.4399 p.K1467E 1.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 27 0 0 32 3 8.57143 ADIPOR1 0 genome.wustl.edu 37 1 202914151 202914151 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 202914151 202914151 C T SNP ADIPOR1 ENST00000340990 human ensembl 74_37 -1 known missense c.577 p.V193I 1.000 pfam_HlyIII-related pfam_HlyIII-related - no_errors ADIPOR1 HGNC ENSG00000159346 127 0 0 118 20 14.4928 ADIPOR1 0 genome.wustl.edu 37 1 202917467 202917467 + Missense_Mutation SNP G G C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 202917467 202917467 G C SNP ADIPOR1 ENST00000340990 human ensembl 74_37 -1 known missense c.223 p.H75D 1.000 NULL pfam_HlyIII-related - no_errors ADIPOR1 HGNC ENSG00000159346 71 0 0 78 8 9.30233 CHIT1 0 genome.wustl.edu 37 1 203186140 203186140 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 203186140 203186140 C T SNP CHIT1 ENST00000367229 human ensembl 74_37 -1 known silent c.1278 p.G426 0.765 pfam_Chitin-bd_dom,superfamily_Chitin-bd_dom,smart_Chitin-bd_dom,pfscan_Chitin-bd_dom pfam_Glyco_hydro18cat,pfam_Chitin-bd_dom,superfamily_Glycoside_hydrolase_SF,superfamily_Chitin-bd_dom,smart_Chitinase_II,smart_Chitin-bd_dom,pfscan_Chitin-bd_dom - no_errors CHIT1 HGNC ENSG00000133063 132 0 0 133 15 10.1351 ZC3H11A 0 genome.wustl.edu 37 1 203821508 203821508 + Nonsense_Mutation SNP C C G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 203821508 203821508 C G SNP ZC3H11A ENST00000332127 human ensembl 74_37 +1 known nonsense c.2414 p.S805* 0.993 NULL smart_Znf_CCCH - no_errors ZC3H11A HGNC ENSG00000058673 30 0 0 56 3 5.08475 DSTYK 0 genome.wustl.edu 37 1 205128728 205128728 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 205128728 205128728 C T SNP DSTYK ENST00000367162 human ensembl 74_37 -1 known missense c.2185 p.A729T 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DSTYK HGNC ENSG00000133059 26 0 0 32 7 17.9487 LEMD1 0 genome.wustl.edu 37 1 205350918 205350918 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 205350918 205350918 G A SNP LEMD1 ENST00000367154 human ensembl 74_37 -1 known missense c.272 p.A91V 0.000 NULL pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom - no_errors LEMD1 HGNC ENSG00000186007 143 0 0 145 24 14.2012 CENPF 0 genome.wustl.edu 37 1 214813825 214813825 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 214813825 214813825 A G SNP CENPF ENST00000366955 human ensembl 74_37 +1 known missense c.2144 p.Q715R 0.100 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 48 0 0 64 16 20 ECE1 0 genome.wustl.edu 37 1 21562343 21562343 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 21562343 21562343 G A SNP ECE1 ENST00000374893 human ensembl 74_37 -1 known silent c.1566 p.D522 0.960 NULL pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECE1 HGNC ENSG00000117298 162 0 0 166 26 13.5417 RAP1GAP 0 genome.wustl.edu 37 1 21926004 21926004 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 21926004 21926004 C T SNP RAP1GAP ENST00000290101 human ensembl 74_37 -1 known missense c.1951 p.G651R 1.000 NULL pfam_Rap_GAP_dom,pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Rap_GAP_dom - no_errors RAP1GAP HGNC ENSG00000076864 87 0 0 80 15 15.7895 MARC2 0 genome.wustl.edu 37 1 220953575 220953575 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 220953575 220953575 T C SNP MARC2 ENST00000366913 human ensembl 74_37 +1 known missense c.878 p.L293P 1.000 pfam_MoCF_Sase_C,superfamily_Pyrv_Knase-like_insert_dom pfam_MOSC_N,pfam_MoCF_Sase_C,superfamily_Pyrv_Knase-like_insert_dom - no_errors MARC2 HGNC ENSG00000117791 145 0 0 142 18 11.25 HSPG2 0 genome.wustl.edu 37 1 22173013 22173013 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 22173013 22173013 G A SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known silent c.8244 p.C2748 0.871 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 92 0 0 87 16 15.534 DISP1 0 genome.wustl.edu 37 1 223177842 223177842 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 223177842 223177842 A G SNP DISP1 ENST00000284476 human ensembl 74_37 +1 novel missense c.3103 p.N1035D 0.994 pfam_Patched,pfam_MMPL_dom pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 148 0 0 200 34 14.5299 DISP1 0 genome.wustl.edu 37 1 223177922 223177922 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 223177922 223177922 C T SNP DISP1 ENST00000284476 human ensembl 74_37 +1 novel silent c.3183 p.R1061 0.997 pfam_Patched,pfam_MMPL_dom pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 69 0 0 78 17 17.8947 PARP1 0 genome.wustl.edu 37 1 226568810 226568810 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 226568810 226568810 G A SNP PARP1 ENST00000366794 human ensembl 74_37 -1 known missense c.1259 p.T420M 1.000 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 51 0 0 61 10 14.0845 ITPKB 0 genome.wustl.edu 37 1 226924476 226924476 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 226924476 226924476 C T SNP ITPKB ENST00000272117 human ensembl 74_37 -1 known silent c.684 p.S228 0.000 NULL pfam_IPK - no_errors ITPKB HGNC ENSG00000143772 130 0 0 149 25 14.3678 ADCK3 0 genome.wustl.edu 37 1 227152742 227152742 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 227152742 227152742 C T SNP ADCK3 ENST00000366777 human ensembl 74_37 +1 known silent c.219 p.G73 0.001 NULL pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK3 HGNC ENSG00000163050 65 0 0 58 10 14.7059 OBSCN 0 genome.wustl.edu 37 1 228470812 228470812 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 228470812 228470812 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.8564 p.T2855M 0.001 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 12 0 0 11 5 31.25 URB2 0 genome.wustl.edu 37 1 229787056 229787056 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 229787056 229787056 G A SNP URB2 ENST00000258243 human ensembl 74_37 +1 known silent c.4224 p.R1408 0.596 pfam_Urb2/Npa2_C pfam_Urb2/Npa2_C - no_errors URB2 HGNC ENSG00000135763 37 0 0 43 8 15.6863 SPRTN 0 genome.wustl.edu 37 1 231474173 231474173 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 231474173 231474173 G T SNP SPRTN ENST00000295050 human ensembl 74_37 +1 known missense c.44 p.W15L 1.000 NULL pfam_SprT-like_domain,smart_SprT-like_domain,smart_Znf_Rad18_put - no_errors SPRTN HGNC ENSG00000010072 88 0 0 130 15 10.3448 PCNXL2 0 genome.wustl.edu 37 1 233397843 233397843 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 233397843 233397843 C T SNP PCNXL2 ENST00000258229 human ensembl 74_37 -1 known missense c.428 p.R143H 0.000 NULL pfam_Pecanex,superfamily_Trypsin-like_Pept_dom - no_errors PCNXL2 HGNC ENSG00000135749 115 0 0 128 23 15.2318 ARID4B 0 genome.wustl.edu 37 1 235377281 235377281 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 235377281 235377281 C T SNP ARID4B ENST00000264183 human ensembl 74_37 -1 known silent c.1644 p.E548 1.000 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4B HGNC ENSG00000054267 69 0 0 77 13 14.4444 LYST 0 genome.wustl.edu 37 1 235866168 235866168 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 235866168 235866168 G A SNP LYST ENST00000389793 human ensembl 74_37 -1 known missense c.10253 p.A3418V 1.000 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom 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 252 0 0 236 45 16.0142 RYR2 0 genome.wustl.edu 37 1 237777706 237777706 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 237777706 237777706 C T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.5272 p.R1758W 0.690 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 52 0 0 50 5 9.09091 CHRM3 0 genome.wustl.edu 37 1 240071274 240071274 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 240071274 240071274 A G SNP CHRM3 ENST00000255380 human ensembl 74_37 +1 known missense c.523 p.T175A 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_rcpt 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 142 0 0 123 30 19.6078 FMN2 0 genome.wustl.edu 37 1 240256612 240256612 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 240256612 240256612 C T SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known silent c.1203 p.P401 0.000 NULL pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 43 0 0 66 16 19.5122 NLRP3 0 genome.wustl.edu 37 1 247588581 247588581 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 247588581 247588581 T C SNP NLRP3 ENST00000336119 human ensembl 74_37 +1 known silent c.1836 p.I612 0.007 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP3 HGNC ENSG00000162711 47 0 0 47 7 12.963 OR2T34 0 genome.wustl.edu 37 1 248737350 248737350 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 248737350 248737350 C T SNP OR2T34 ENST00000328782 human ensembl 74_37 -1 known missense c.709 p.A237T 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T34 HGNC ENSG00000183310 158 0 0 231 29 11.1538 MTFR1L 0 genome.wustl.edu 37 1 26152890 26152890 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 26152890 26152890 A G SNP MTFR1L ENST00000374300 human ensembl 74_37 +1 known missense c.227 p.Y76C 1.000 pfam_Mtfr1 pfam_Mtfr1 - no_errors MTFR1L HGNC ENSG00000117640 42 0 0 40 8 16.6667 PAQR7 0 genome.wustl.edu 37 1 26189692 26189692 + Silent SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 26189692 26189692 G T SNP PAQR7 ENST00000374296 human ensembl 74_37 -1 known silent c.639 p.A213 0.998 pfam_HlyIII-related pfam_HlyIII-related - no_errors PAQR7 HGNC ENSG00000182749 77 0 0 86 8 8.51064 PIGV 0 genome.wustl.edu 37 1 27117357 27117357 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 27117357 27117357 C T SNP PIGV ENST00000078527 human ensembl 74_37 +1 known silent c.51 p.S17 0.932 pfam_GPI_Mannosyltransferase_2 pfam_GPI_Mannosyltransferase_2 - no_errors PIGV HGNC ENSG00000060642 64 0 0 65 17 20.7317 NR0B2 0 genome.wustl.edu 37 1 27240396 27240396 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 27240396 27240396 C T SNP NR0B2 ENST00000254227 human ensembl 74_37 -1 known silent c.36 p.Q12 0.298 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt - no_errors NR0B2 HGNC ENSG00000131910 62 0 0 67 12 15.1899 C1orf172 0 genome.wustl.edu 37 1 27277975 27277975 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 27277975 27277975 G A SNP C1orf172 ENST00000320567 human ensembl 74_37 -1 known silent c.897 p.R299 0.019 NULL NULL - no_errors C1orf172 HGNC ENSG00000175707 42 0 0 51 13 20.3125 MECR 0 genome.wustl.edu 37 1 29522757 29522757 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 29522757 29522757 T C SNP MECR ENST00000263702 human ensembl 74_37 -1 known missense c.844 p.M282V 1.000 pfam_ADH_C,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors MECR HGNC ENSG00000116353 52 0 0 37 8 17.7778 CSMD2 0 genome.wustl.edu 37 1 34011768 34011768 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 34011768 34011768 C T SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.8969 p.R2990H 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 CSMD2 HGNC ENSG00000121904 37 0 0 53 5 8.62069 AGO1 0 genome.wustl.edu 37 1 36359342 36359342 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 36359342 36359342 C T SNP AGO1 ENST00000373204 human ensembl 74_37 +1 known missense c.580 p.R194C 1.000 pfam_DUF1785,superfamily_PAZ_dom 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 AGO1 HGNC ENSG00000092847 48 0 0 48 5 9.43396 NDUFS5 0 genome.wustl.edu 37 1 39500070 39500070 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 39500070 39500070 C T SNP NDUFS5 ENST00000372967 human ensembl 74_37 +1 known missense c.223 p.R75C 0.524 pfam_NADH_UbQ_OxRdtase_FeS-su5,pfam_Cyt_c_biogenesis_Cmc1-like pfam_NADH_UbQ_OxRdtase_FeS-su5,pfam_Cyt_c_biogenesis_Cmc1-like - no_errors NDUFS5 HGNC ENSG00000168653 69 0 0 75 7 8.53659 MACF1 0 genome.wustl.edu 37 1 39753194 39753194 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 39753194 39753194 G A SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known missense c.1760 p.R587Q 1.000 smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 158 1 0.628931 187 33 15 SMAP2 0 genome.wustl.edu 37 1 40881993 40881993 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 40881993 40881993 C T SNP SMAP2 ENST00000372718 human ensembl 74_37 +1 known missense c.827 p.T276M 1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors SMAP2 HGNC ENSG00000084070 120 0 0 114 20 14.9254 TIE1 0 genome.wustl.edu 37 1 43773592 43773592 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 43773592 43773592 T C SNP TIE1 ENST00000372476 human ensembl 74_37 +1 known missense c.1039 p.S347P 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TIE1 HGNC ENSG00000066056 43 0 0 43 5 10.4167 KDM4A 0 genome.wustl.edu 37 1 44118953 44118953 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 44118953 44118953 C T SNP KDM4A ENST00000372396 human ensembl 74_37 +1 known missense c.107 p.S36F 1.000 pfam_TF_JmjN,smart_TF_JmjN,pfscan_TF_JmjN 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 KDM4A HGNC ENSG00000066135 95 0 0 116 23 16.5468 TOE1 0 genome.wustl.edu 37 1 45808537 45808537 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 45808537 45808537 C T SNP TOE1 ENST00000372090 human ensembl 74_37 +1 known missense c.775 p.R259W 1.000 pfam_RNase_CAF1,superfamily_RNaseH-like_dom pfam_RNase_CAF1,pfam_Znf_CCCH,superfamily_RNaseH-like_dom - no_errors TOE1 HGNC ENSG00000132773 27 0 0 40 6 13.0435 RAD54L 0 genome.wustl.edu 37 1 46740228 46740228 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 46740228 46740228 A G SNP RAD54L ENST00000371975 human ensembl 74_37 +1 known missense c.1708 p.M570V 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_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_Rad54_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L HGNC ENSG00000085999 128 0 0 133 26 16.3522 CYP4A11 0 genome.wustl.edu 37 1 47400814 47400814 + Silent SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 47400814 47400814 G T SNP CYP4A11 ENST00000371904 human ensembl 74_37 -1 known silent c.648 p.S216 0.929 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-II,prints_Cyt_P450_E_grp-IV - no_errors CYP4A11 HGNC ENSG00000187048 80 0 0 98 11 10.0917 NRD1 0 genome.wustl.edu 37 1 52254957 52254957 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 52254957 52254957 G A SNP NRD1 ENST00000354831 human ensembl 74_37 -1 known missense c.3611 p.A1204V 1.000 NULL pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors NRD1 HGNC ENSG00000078618 121 0 0 109 18 14.1732 KTI12 0 genome.wustl.edu 37 1 52498938 52498938 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 52498938 52498938 C T SNP KTI12 ENST00000371614 human ensembl 74_37 -1 known missense c.496 p.A166T 0.000 pfam_Chromatin_KTI12 pfam_Chromatin_KTI12,superfamily_P-loop_NTPase - no_errors KTI12 HGNC ENSG00000198841 105 0 0 115 17 12.8788 LRP8 0 genome.wustl.edu 37 1 53715091 53715091 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 53715091 53715091 C T SNP LRP8 ENST00000306052 human ensembl 74_37 -1 known silent c.2814 p.P938 1.000 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd_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_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP8 HGNC ENSG00000157193 83 0 0 87 11 11.2245 LRRC42 0 genome.wustl.edu 37 1 54428072 54428072 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 54428072 54428072 G T SNP LRRC42 ENST00000319223 human ensembl 74_37 +1 known missense c.917 p.W306L 1.000 NULL NULL - no_errors LRRC42 HGNC ENSG00000116212 36 0 0 60 4 6.25 HES3 0 genome.wustl.edu 37 1 6304439 6304439 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 6304439 6304439 G A SNP HES3 ENST00000377898 human ensembl 74_37 +1 known missense c.14 p.R5H 0.999 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 67 0 0 71 9 11.25 DEPDC1 0 genome.wustl.edu 37 1 68947796 68947796 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 68947796 68947796 G A SNP DEPDC1 ENST00000456315 human ensembl 74_37 -1 known silent c.1695 p.C565 1.000 superfamily_Rho_GTPase_activation_prot pfam_DEP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC1 HGNC ENSG00000024526 117 0 0 142 18 11.25 C1orf173 0 genome.wustl.edu 37 1 75055401 75055401 + Missense_Mutation SNP T T G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 75055401 75055401 T G SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known missense c.2090 p.K697T 0.096 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 199 1 0.5 187 28 13.0233 PIGK 0 genome.wustl.edu 37 1 77635038 77635038 + Silent SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 77635038 77635038 A G SNP PIGK ENST00000370812 human ensembl 74_37 -1 known silent c.282 p.P94 0.992 pfam_Peptidase_C13,prints_Peptidase_C13 pfam_Peptidase_C13,prints_Peptidase_C13 - no_errors PIGK HGNC ENSG00000142892 80 0 0 63 12 16 CAMTA1 0 genome.wustl.edu 37 1 7797391 7797391 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 7797391 7797391 C A SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known missense c.3419 p.P1140H 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom 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 119 0 0 138 22 13.75 UTS2 0 genome.wustl.edu 37 1 7910965 7910965 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 7910965 7910965 G A SNP UTS2 ENST00000054668 human ensembl 74_37 -1 known missense c.166 p.R56C 0.000 NULL pfam_Urotensin_II - no_errors UTS2 HGNC ENSG00000049247 76 0 0 99 6 5.71429 C1orf52 0 genome.wustl.edu 37 1 85725277 85725277 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 85725277 85725277 C T SNP C1orf52 ENST00000471115 human ensembl 74_37 -1 known missense c.40 p.A14T 0.947 NULL NULL - no_errors C1orf52 HGNC ENSG00000162642 9 0 0 13 4 23.5294 GTF2B 0 genome.wustl.edu 37 1 89325946 89325946 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 89325946 89325946 G A SNP GTF2B ENST00000370500 human ensembl 74_37 -1 known silent c.282 p.D94 1.000 NULL pfam_TFIIB_cyclin,pfam_Znf_TFIIB,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pfscan_Znf_TFIIB,prints_TFIIB - no_errors GTF2B HGNC ENSG00000137947 63 0 0 81 10 10.989 CCBL2 0 genome.wustl.edu 37 1 89408751 89408751 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 89408751 89408751 T C SNP CCBL2 ENST00000260508 human ensembl 74_37 -1 known silent c.1239 p.S413 0.987 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors CCBL2 HGNC ENSG00000137944 131 0 0 160 19 10.6145 TGFBR3 0 genome.wustl.edu 37 1 92161320 92161320 + Silent SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 92161320 92161320 C A SNP TGFBR3 ENST00000212355 human ensembl 74_37 -1 known silent c.2346 p.L782 1.000 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors TGFBR3 HGNC ENSG00000069702 104 0 0 92 16 14.8148 H6PD 0 genome.wustl.edu 37 1 9305527 9305527 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 9305527 9305527 T C SNP H6PD ENST00000377403 human ensembl 74_37 +1 known silent c.534 p.H178 0.942 pfam_G6P_DH_NAD-bd,prints_G6P_DH pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,prints_G6P_DH,tigrfam_6-phosphogluconolactonase_DevB - no_errors H6PD HGNC ENSG00000049239 79 0 0 110 17 13.3858 MTF2 0 genome.wustl.edu 37 1 93583921 93583921 + Nonsense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 93583921 93583921 C T SNP MTF2 ENST00000370298 human ensembl 74_37 +1 known nonsense c.652 p.Q218* 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MTF2 HGNC ENSG00000143033 70 0 0 55 7 11.2903 CCDC18 0 genome.wustl.edu 37 1 93659237 93659237 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 93659237 93659237 G A SNP CCDC18 ENST00000557479 human ensembl 74_37 +1 known missense c.988 p.E330K 0.194 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC18 HGNC ENSG00000122483 49 0 0 47 9 16.0714 ABCA4 0 genome.wustl.edu 37 1 94466610 94466610 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 94466610 94466610 C T SNP ABCA4 ENST00000370225 human ensembl 74_37 -1 known missense c.6334 p.V2112I 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 100 0 0 87 7 7.44681 DNMBP 0 genome.wustl.edu 37 10 101715833 101715833 + Silent SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 101715833 101715833 G T SNP DNMBP ENST00000342239 human ensembl 74_37 -1 known silent c.1398 p.S466 0.076 NULL pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors DNMBP HGNC ENSG00000107554 147 0 0 138 14 9.21053 DNMBP 0 genome.wustl.edu 37 10 101716831 101716831 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 101716831 101716831 G T SNP DNMBP ENST00000342239 human ensembl 74_37 -1 known missense c.400 p.H134N 1.000 superfamily_SH3_domain pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors DNMBP HGNC ENSG00000107554 47 0 0 44 7 13.7255 SORCS3 0 genome.wustl.edu 37 10 106865237 106865237 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 106865237 106865237 T C SNP SORCS3 ENST00000369701 human ensembl 74_37 +1 known silent c.1176 p.S392 0.980 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 98 0 0 111 20 15.2672 ABLIM1 0 genome.wustl.edu 37 10 116247739 116247739 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 116247739 116247739 G A SNP ABLIM1 ENST00000277895 human ensembl 74_37 -1 known missense c.1019 p.T340M 0.897 NULL pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM1 HGNC ENSG00000099204 197 0 0 201 40 16.5975 UPF2 0 genome.wustl.edu 37 10 11990443 11990443 + Missense_Mutation SNP T T A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 11990443 11990443 T A SNP UPF2 ENST00000356352 human ensembl 74_37 -1 known missense c.3099 p.E1033D 0.998 NULL pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors UPF2 HGNC ENSG00000151461 31 0 0 37 3 7.5 FGFR2 0 genome.wustl.edu 37 10 123325059 123325059 + Missense_Mutation SNP T T G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 123325059 123325059 T G SNP FGFR2 ENST00000457416 human ensembl 74_37 -1 known missense c.269 p.E90A 1.000 pirsf_FGF_rcpt_fam,smart_Ig_sub,smart_Ig_sub2,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 FGFR2 HGNC ENSG00000066468 143 0 0 140 16 10.2564 MMP21 0 genome.wustl.edu 37 10 127462527 127462527 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 127462527 127462527 G A SNP MMP21 ENST00000368808 human ensembl 74_37 -1 known silent c.570 p.S190 0.338 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 MMP21 HGNC ENSG00000154485 16 0 0 19 6 24 EBF3 0 genome.wustl.edu 37 10 131757223 131757223 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 131757223 131757223 G A SNP EBF3 ENST00000355311 human ensembl 74_37 -1 known silent c.460 p.L154 1.000 NULL pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF3 HGNC ENSG00000108001 61 0 0 74 9 10.8434 PPP2R2D 0 genome.wustl.edu 37 10 133753565 133753565 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 133753565 133753565 T C SNP PPP2R2D ENST00000455566 human ensembl 74_37 +1 known missense c.136 p.Y46H 1.000 superfamily_WD40_repeat_dom,pirsf_PP2A_PR55,prints_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2D HGNC ENSG00000175470 39 0 0 33 7 17.5 INPP5A 0 genome.wustl.edu 37 10 134563059 134563059 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 134563059 134563059 C T SNP INPP5A ENST00000368594 human ensembl 74_37 +1 known silent c.771 p.A257 0.239 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5A HGNC ENSG00000068383 85 0 0 115 13 10.1562 ADAM8 0 genome.wustl.edu 37 10 135084567 135084567 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 135084567 135084567 G A SNP ADAM8 ENST00000445355 human ensembl 74_37 -1 known missense c.1382 p.P461L 0.015 pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,prints_Blood-coag_inhib_Disintegrin pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,pfam_ADAM_Cys-rich,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM8 HGNC ENSG00000151651 55 0 0 71 7 8.97436 SPAG6 0 genome.wustl.edu 37 10 22676794 22676794 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 22676794 22676794 G A SNP SPAG6 ENST00000376603 human ensembl 74_37 +1 known missense c.949 p.V317M 1.000 pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_HEAT,pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold,smart_Armadillo - no_errors SPAG6 HGNC ENSG00000077327 52 0 0 64 11 14.6667 APBB1IP 0 genome.wustl.edu 37 10 26800783 26800783 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 26800783 26800783 T C SNP APBB1IP ENST00000376236 human ensembl 74_37 +1 known silent c.639 p.C213 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc - no_errors APBB1IP HGNC ENSG00000077420 84 0 0 98 17 14.7826 MASTL 0 genome.wustl.edu 37 10 27459730 27459730 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 27459730 27459730 C T SNP MASTL ENST00000375940 human ensembl 74_37 +1 known silent c.1842 p.C614 0.639 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 MASTL HGNC ENSG00000120539 38 0 0 35 3 7.89474 MKX 0 genome.wustl.edu 37 10 28024160 28024160 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 28024160 28024160 T C SNP MKX ENST00000375790 human ensembl 74_37 -1 known silent c.492 p.S164 0.209 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors MKX HGNC ENSG00000150051 81 0 0 64 8 11.1111 SVIL 0 genome.wustl.edu 37 10 29839919 29839919 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 29839919 29839919 G T SNP SVIL ENST00000355867 human ensembl 74_37 -1 known missense c.434 p.A145D 0.000 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors SVIL HGNC ENSG00000197321 73 0 0 95 10 9.52381 ANKRD30A 0 genome.wustl.edu 37 10 37486356 37486356 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 37486356 37486356 G T SNP ANKRD30A ENST00000361713 human ensembl 74_37 +1 known missense c.2496 p.K832N 0.001 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 90 0 0 112 11 8.94309 CSGALNACT2 0 genome.wustl.edu 37 10 43662530 43662530 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 43662530 43662530 C A SNP CSGALNACT2 ENST00000374466 human ensembl 74_37 +1 known missense c.1238 p.P413H 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CSGALNACT2 HGNC ENSG00000169826 36 0 0 43 7 14 ASAH2C 0 genome.wustl.edu 37 10 48004041 48004041 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 48004041 48004041 G T SNP ASAH2C ENST00000426610 human ensembl 74_37 -1 known missense c.1606 p.L536I 1.000 pfam_Ceramidase_alk pfam_Ceramidase_alk - no_errors ASAH2C HGNC ENSG00000072444 106 0 0 83 21 20.1923 GDF2 0 genome.wustl.edu 37 10 48413645 48413645 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 48413645 48413645 T C SNP GDF2 ENST00000249598 human ensembl 74_37 -1 known missense c.1223 p.D408G 1.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors GDF2 HGNC ENSG00000128802 24 0 0 32 3 8.57143 FRMPD2 0 genome.wustl.edu 37 10 49448448 49448448 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 49448448 49448448 C T SNP FRMPD2 ENST00000374201 human ensembl 74_37 -1 known missense c.655 p.E219K 0.002 NULL pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC ENSG00000170324 44 0 0 42 11 20.7547 BICC1 0 genome.wustl.edu 37 10 60272971 60272971 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 60272971 60272971 G A SNP BICC1 ENST00000373886 human ensembl 74_37 +1 known missense c.68 p.S23N 1.000 NULL pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1 - no_errors BICC1 HGNC ENSG00000122870 22 0 0 35 3 7.89474 LOC101928781 0 genome.wustl.edu 37 10 63212538 63212538 + RNA SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 63212538 63212538 G T SNP LOC101928781 ENST00000389640 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-809M12.1 Clone_based_vega_gene ENSG00000237233 28 0 0 38 6 13.6364 PPA1 0 genome.wustl.edu 37 10 71964629 71964629 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 71964629 71964629 C T SNP PPA1 ENST00000373232 human ensembl 74_37 -1 known missense c.838 p.V280M 1.000 superfamily_Pyrophosphatase pfam_Pyrophosphatase,superfamily_Pyrophosphatase - no_errors PPA1 HGNC ENSG00000180817 45 0 0 41 7 14.5833 SFMBT2 0 genome.wustl.edu 37 10 7290596 7290596 + Silent SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 7290596 7290596 G T SNP SFMBT2 ENST00000361972 human ensembl 74_37 -1 known silent c.886 p.R296 0.996 smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC ENSG00000198879 46 0 0 57 9 13.6364 POLR3A 0 genome.wustl.edu 37 10 79769344 79769344 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 79769344 79769344 C A SNP POLR3A ENST00000372371 human ensembl 74_37 -1 known missense c.1860 p.K620N 1.000 pfam_RNA_pol_Rpb1_3 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N - no_errors POLR3A HGNC ENSG00000148606 127 0 0 147 21 12.5 POLR3A 0 genome.wustl.edu 37 10 79769644 79769644 + Missense_Mutation SNP A A C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 79769644 79769644 A C SNP POLR3A ENST00000372371 human ensembl 74_37 -1 known missense c.1748 p.L583R 1.000 pfam_RNA_pol_Rpb1_3 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N - no_errors POLR3A HGNC ENSG00000148606 78 0 0 80 12 13.0435 ANXA11 0 genome.wustl.edu 37 10 81927003 81927003 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 81927003 81927003 G A SNP ANXA11 ENST00000265447 human ensembl 74_37 -1 known missense c.628 p.R210W 0.988 pfam_Annexin_repeat pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXI,prints_AnnexinVII - no_errors ANXA11 HGNC ENSG00000122359 61 0 0 64 8 11.1111 NRG3 0 genome.wustl.edu 37 10 84498345 84498345 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 84498345 84498345 C T SNP NRG3 ENST00000404547 human ensembl 74_37 +1 known silent c.966 p.G322 1.000 pfscan_EG-like_dom pfscan_EG-like_dom - no_errors NRG3 HGNC ENSG00000185737 62 0 0 77 19 19.7917 LRIT1 0 genome.wustl.edu 37 10 86001138 86001138 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 86001138 86001138 G A SNP LRIT1 ENST00000372105 human ensembl 74_37 -1 known missense c.58 p.R20W 0.001 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 32 0 0 32 7 17.9487 GRID1 0 genome.wustl.edu 37 10 87615817 87615817 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 87615817 87615817 C T SNP GRID1 ENST00000327946 human ensembl 74_37 -1 known missense c.1082 p.G361D 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 87 0 0 92 19 17.1171 ACTA2 0 genome.wustl.edu 37 10 90708624 90708624 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 90708624 90708624 C T SNP ACTA2 ENST00000224784 human ensembl 74_37 -1 known missense c.64 p.G22S 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTA2 HGNC ENSG00000107796 109 0 0 115 14 10.8527 TNKS2 0 genome.wustl.edu 37 10 93590876 93590876 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 93590876 93590876 C T SNP TNKS2 ENST00000371627 human ensembl 74_37 +1 known missense c.1213 p.H405Y 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS2 HGNC ENSG00000107854 127 0 0 143 23 13.8554 PLCE1 0 genome.wustl.edu 37 10 95791856 95791856 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 95791856 95791856 G A SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known silent c.1053 p.L351 1.000 superfamily_Ras_GEF_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 57 0 0 62 10 13.8889 NOC3L 0 genome.wustl.edu 37 10 96094000 96094000 + Nonsense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 96094000 96094000 G T SNP NOC3L ENST00000371350 human ensembl 74_37 -1 known nonsense c.2337 p.Y779* 0.161 pirsf_Nucleolar_cplx-assoc_3 pfam_CCAAT-binding_factor,pfam_NOC3p,superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3 - no_errors NOC3L HGNC ENSG00000173145 39 0 0 38 6 13.6364 MUC6 0 genome.wustl.edu 37 11 1018569 1018569 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 1018569 1018569 G T SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known missense c.4232 p.T1411K 0.002 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 184 1 0.540541 207 21 9.21053 CASP5 0 genome.wustl.edu 37 11 104872823 104872823 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 104872823 104872823 C T SNP CASP5 ENST00000393141 human ensembl 74_37 -1 known missense c.688 p.V230M 0.000 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP5 HGNC ENSG00000137757 89 0 0 100 18 15.2542 AMPD3 0 genome.wustl.edu 37 11 10517233 10517233 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 10517233 10517233 G A SNP AMPD3 ENST00000396553 human ensembl 74_37 +1 known silent c.1383 p.K461 1.000 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 33 0 0 43 9 17.3077 GUCY1A2 0 genome.wustl.edu 37 11 106579331 106579331 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 106579331 106579331 C T SNP GUCY1A2 ENST00000282249 human ensembl 74_37 -1 known missense c.1991 p.R664H 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase 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 GUCY1A2 HGNC ENSG00000152402 51 0 0 69 4 5.47945 ATM 0 genome.wustl.edu 37 11 108114793 108114793 + Nonsense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 108114793 108114793 G T SNP ATM ENST00000278616 human ensembl 74_37 +1 known nonsense c.610 p.G204* 1.000 NULL pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 44 0 0 47 6 11.3208 MUC2 0 genome.wustl.edu 37 11 1085752 1085752 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 1085752 1085752 C T SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known silent c.2673 p.C891 0.966 pfam_VWF_type-D,smart_VWC_out,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 68 0 0 67 7 9.45946 DDX10 0 genome.wustl.edu 37 11 108709179 108709179 + Nonsense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 108709179 108709179 G T SNP DDX10 ENST00000322536 human ensembl 74_37 +1 known nonsense c.1972 p.E658* 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX10 HGNC ENSG00000178105 59 0 0 60 8 11.7647 BCO2 0 genome.wustl.edu 37 11 112071463 112071463 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 112071463 112071463 G A SNP BCO2 ENST00000357685 human ensembl 74_37 +1 known silent c.993 p.T331 0.000 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors BCO2 HGNC ENSG00000197580 147 0 0 147 14 8.69565 ATP5L 0 genome.wustl.edu 37 11 118272414 118272414 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 118272414 118272414 A G SNP ATP5L ENST00000300688 human ensembl 74_37 +1 known missense c.34 p.T12A 1.000 pfam_ATPase_F0-cplx_gsu_mt,pirsf_ATP-Synthase_su_G_mt_met pfam_ATPase_F0-cplx_gsu_mt,pirsf_ATP-Synthase_su_G_mt_met - no_errors ATP5L HGNC ENSG00000167283 30 0 0 34 7 17.0732 KMT2A 0 genome.wustl.edu 37 11 118343133 118343133 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 118343133 118343133 G A SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known missense c.1259 p.R420Q 0.998 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 116 0 0 115 20 14.8148 ABCG4 0 genome.wustl.edu 37 11 119025561 119025561 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 119025561 119025561 C T SNP ABCG4 ENST00000307417 human ensembl 74_37 +1 known missense c.622 p.R208C 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 ABCG4 HGNC ENSG00000172350 201 0 0 192 38 16.5217 NLRX1 0 genome.wustl.edu 37 11 119052945 119052945 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 119052945 119052945 C A SNP NLRX1 ENST00000292199 human ensembl 74_37 +1 known missense c.2497 p.R833S 0.005 smart_Leu-rich_rpt_RNase_inh_sub-typ superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRX1 HGNC ENSG00000160703 83 0 0 90 12 11.7647 THY1 0 genome.wustl.edu 37 11 119290951 119290951 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 119290951 119290951 G A SNP THY1 ENST00000284240 human ensembl 74_37 -1 known silent c.183 p.H61 0.979 pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors THY1 HGNC ENSG00000154096 147 1 0.675676 150 18 10.7143 TBCEL 0 genome.wustl.edu 37 11 120930727 120930727 + Nonsense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 120930727 120930727 C T SNP TBCEL ENST00000422003 human ensembl 74_37 +1 known nonsense c.889 p.R297* 1.000 NULL pfscan_Ubiquitin_supergroup - no_errors TBCEL HGNC ENSG00000154114 32 0 0 32 8 20 SCN3B 0 genome.wustl.edu 37 11 123513213 123513213 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 123513213 123513213 T C SNP SCN3B ENST00000299333 human ensembl 74_37 -1 known missense c.386 p.E129G 0.999 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom - no_errors SCN3B HGNC ENSG00000166257 94 0 0 93 16 14.6789 OR8B3 0 genome.wustl.edu 37 11 124266650 124266650 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 124266650 124266650 G A SNP OR8B3 ENST00000354597 human ensembl 74_37 -1 known missense c.598 p.L200F 0.005 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 OR8B3 HGNC ENSG00000196661 111 0 0 128 16 11.1111 FEZ1 0 genome.wustl.edu 37 11 125324074 125324074 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 125324074 125324074 C T SNP FEZ1 ENST00000278919 human ensembl 74_37 -1 known silent c.972 p.L324 1.000 NULL pfam_FEZ - no_errors FEZ1 HGNC ENSG00000149557 42 0 0 33 8 19.5122 ARHGAP32 0 genome.wustl.edu 37 11 128840449 128840449 + Silent SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 128840449 128840449 G T SNP ARHGAP32 ENST00000310343 human ensembl 74_37 -1 known silent c.4617 p.A1539 0.988 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 43 0 0 76 5 6.17284 ARHGAP32 0 genome.wustl.edu 37 11 129062071 129062071 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 129062071 129062071 C T SNP ARHGAP32 ENST00000310343 human ensembl 74_37 -1 known missense c.23 p.S8N 0.463 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 167 0 0 183 25 12.0192 ADAMTS8 0 genome.wustl.edu 37 11 130281444 130281444 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 130281444 130281444 G A SNP ADAMTS8 ENST00000257359 human ensembl 74_37 -1 known missense c.1618 p.R540W 0.940 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS8,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS8 HGNC ENSG00000134917 63 0 0 82 14 14.5833 GLB1L3 0 genome.wustl.edu 37 11 134153716 134153716 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 134153716 134153716 A G SNP GLB1L3 ENST00000431683 human ensembl 74_37 +1 known missense c.613 p.I205V 1.000 pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1L3 HGNC ENSG00000166105 19 0 0 18 4 18.1818 NAV2 0 genome.wustl.edu 37 11 19954794 19954794 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 19954794 19954794 G A SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known missense c.1073 p.S358N 0.194 NULL pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 238 0 0 265 36 11.9601 INS-IGF2 0 genome.wustl.edu 37 11 2170546 2170546 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 2170546 2170546 A G SNP INS-IGF2 ENST00000356578 human ensembl 74_37 -1 known missense c.217 p.S73P 0.000 pfam_Insulin-like,smart_Insulin-like pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Insulin - no_errors INS-IGF2 HGNC ENSG00000129965 106 0 0 119 16 11.8519 SLC17A6 0 genome.wustl.edu 37 11 22398954 22398954 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 22398954 22398954 C T SNP SLC17A6 ENST00000263160 human ensembl 74_37 +1 known missense c.1417 p.R473C 1.000 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A6 HGNC ENSG00000091664 39 0 0 50 5 9.09091 PSMD13 0 genome.wustl.edu 37 11 252595 252595 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 252595 252595 A G SNP PSMD13 ENST00000431206 human ensembl 74_37 +1 known missense c.1132 p.T378A 1.000 NULL pfam_PCI_dom,smart_PCI_dom - no_errors PSMD13 HGNC ENSG00000185627 67 0 0 114 14 10.9375 ANO3 0 genome.wustl.edu 37 11 26620415 26620415 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 26620415 26620415 G A SNP ANO3 ENST00000256737 human ensembl 74_37 +1 known missense c.1541 p.R514H 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO3 HGNC ENSG00000134343 28 0 0 38 4 9.52381 ANO3 0 genome.wustl.edu 37 11 26677939 26677939 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 26677939 26677939 G T SNP ANO3 ENST00000256737 human ensembl 74_37 +1 known missense c.2674 p.G892C 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO3 HGNC ENSG00000134343 105 0 0 67 17 20.2381 CARS 0 genome.wustl.edu 37 11 3022438 3022438 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 3022438 3022438 T C SNP CARS ENST00000380525 human ensembl 74_37 -1 known missense c.2402 p.K801R 1.000 NULL pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase - no_errors CARS HGNC ENSG00000110619 86 0 0 78 10 11.3636 IFITM1 0 genome.wustl.edu 37 11 314946 314946 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 314946 314946 G A SNP IFITM1 ENST00000328221 human ensembl 74_37 +1 known missense c.211 p.D71N 0.365 pfam_CD225/Dispanin_fam pfam_CD225/Dispanin_fam - no_errors IFITM1 HGNC ENSG00000185885 43 0 0 62 6 8.82353 EHF 0 genome.wustl.edu 37 11 34668230 34668230 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 34668230 34668230 C T SNP EHF ENST00000257831 human ensembl 74_37 +1 known silent c.342 p.N114 0.496 pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors EHF HGNC ENSG00000135373 156 0 0 179 21 10.5 EHF 0 genome.wustl.edu 37 11 34680408 34680408 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 34680408 34680408 G A SNP EHF ENST00000257831 human ensembl 74_37 +1 known missense c.833 p.R278H 1.000 pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors EHF HGNC ENSG00000135373 47 0 0 51 9 15 PAMR1 0 genome.wustl.edu 37 11 35457486 35457486 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 35457486 35457486 C A SNP PAMR1 ENST00000278360 human ensembl 74_37 -1 known missense c.1349 p.G450V 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_EG-like_dom,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1 - no_errors PAMR1 HGNC ENSG00000149090 105 0 0 110 17 13.3858 TRIM21 0 genome.wustl.edu 37 11 4406671 4406671 + Silent SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 4406671 4406671 A G SNP TRIM21 ENST00000254436 human ensembl 74_37 -1 known silent c.1272 p.T424 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Ubox_domain,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,prints_Znf_B-box_chordata - no_errors TRIM21 HGNC ENSG00000132109 21 0 0 20 2 9.09091 TRIM68 0 genome.wustl.edu 37 11 4621712 4621712 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 4621712 4621712 C A SNP TRIM68 ENST00000300747 human ensembl 74_37 -1 known missense c.1252 p.V418F 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_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,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM68 HGNC ENSG00000167333 103 0 0 92 7 7.07071 DGKZ 0 genome.wustl.edu 37 11 46400607 46400607 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 46400607 46400607 C T SNP DGKZ ENST00000454345 human ensembl 74_37 +1 known missense c.3049 p.H1017Y 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKZ HGNC ENSG00000149091 24 0 0 20 5 20 AMBRA1 0 genome.wustl.edu 37 11 46529844 46529844 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 46529844 46529844 T C SNP AMBRA1 ENST00000458649 human ensembl 74_37 -1 known missense c.2236 p.M746V 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 53 0 0 41 10 19.6078 MADD 0 genome.wustl.edu 37 11 47307995 47307995 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 47307995 47307995 C T SNP MADD ENST00000311027 human ensembl 74_37 +1 known missense c.2563 p.R855W 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors MADD HGNC ENSG00000110514 167 1 0.595238 177 21 10.6061 LOC440040 0 genome.wustl.edu 37 11 49597897 49597897 + RNA SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 49597897 49597897 G A SNP LOC440040 ENST00000527477 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-707M1.1 Clone_based_vega_gene ENSG00000205035 39 0 0 45 8 15.0943 OR4C46 0 genome.wustl.edu 37 11 51515609 51515609 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 51515609 51515609 G T SNP OR4C46 ENST00000328188 human ensembl 74_37 +1 known missense c.328 p.G110C 0.008 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 OR4C46 HGNC ENSG00000185926 97 0 0 109 15 12.0968 OR51B4 0 genome.wustl.edu 37 11 5322281 5322281 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 5322281 5322281 C A SNP OR51B4 ENST00000380224 human ensembl 74_37 -1 known missense c.896 p.S299I 0.066 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51B4 HGNC ENSG00000183251 46 0 0 67 9 11.8421 OR5D13 0 genome.wustl.edu 37 11 55541473 55541473 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 55541473 55541473 T C SNP OR5D13 ENST00000361760 human ensembl 74_37 +1 known missense c.560 p.V187A 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 OR5D13 HGNC ENSG00000198877 109 0 0 124 25 16.7785 OR5A1 0 genome.wustl.edu 37 11 59211096 59211096 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 59211096 59211096 A G SNP OR5A1 ENST00000302030 human ensembl 74_37 +1 known missense c.455 p.Y152C 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR5A1 HGNC ENSG00000172320 284 0 0 299 47 13.5838 DAK 0 genome.wustl.edu 37 11 61110054 61110054 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 61110054 61110054 C T SNP DAK ENST00000394900 human ensembl 74_37 +1 known silent c.699 p.T233 0.000 pfam_Dak1,tigrfam_DhaK_ATP pfam_Dak1,pfam_DhaL_dom,superfamily_DhaL_dom,tigrfam_DhaK_ATP - no_errors DAK HGNC ENSG00000149476 107 0 0 87 17 16.3462 RAB3IL1 0 genome.wustl.edu 37 11 61672063 61672063 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 61672063 61672063 G A SNP RAB3IL1 ENST00000394836 human ensembl 74_37 -1 known missense c.854 p.T285M 0.004 NULL pfam_Sec2p - no_errors RAB3IL1 HGNC ENSG00000167994 26 0 0 31 5 13.8889 INCENP 0 genome.wustl.edu 37 11 61897874 61897874 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 61897874 61897874 C T SNP INCENP ENST00000394818 human ensembl 74_37 +1 known missense c.875 p.T292M 0.000 NULL pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd - no_errors INCENP HGNC ENSG00000149503 146 0 0 145 21 12.6506 AHNAK 0 genome.wustl.edu 37 11 62286120 62286120 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 62286120 62286120 C T SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.15769 p.A5257T 0.823 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 122 0 0 153 14 8.38323 AHNAK 0 genome.wustl.edu 37 11 62299988 62299988 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 62299988 62299988 G T SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.1901 p.P634H 1.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 105 0 0 135 17 11.1842 HNRNPUL2 0 genome.wustl.edu 37 11 62491094 62491094 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 62491094 62491094 C T SNP HNRNPUL2 ENST00000301785 human ensembl 74_37 -1 known missense c.856 p.G286R 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_SAP_dom,pfam_Zeta_toxin_domain,pfam_Chromatin_KTI12,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom - no_errors HNRNPUL2 HGNC ENSG00000214753 28 0 0 31 3 8.82353 PLA2G16 0 genome.wustl.edu 37 11 63357621 63357621 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 63357621 63357621 C T SNP PLA2G16 ENST00000323646 human ensembl 74_37 -1 known missense c.338 p.C113Y 1.000 pfam_LRAT-like_dom pfam_LRAT-like_dom - no_errors PLA2G16 HGNC ENSG00000176485 95 0 0 103 21 16.9355 MARK2 0 genome.wustl.edu 37 11 63667452 63667452 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 63667452 63667452 C T SNP MARK2 ENST00000402010 human ensembl 74_37 +1 known missense c.638 p.P213L 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK2 HGNC ENSG00000072518 157 0 0 166 25 13.089 TRPT1 0 genome.wustl.edu 37 11 63992361 63992361 + Missense_Mutation SNP T T G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 63992361 63992361 T G SNP TRPT1 ENST00000394546 human ensembl 74_37 -1 known missense c.239 p.D80A 0.129 pfam_Ptrans_KptA/Tpt1 pfam_Ptrans_KptA/Tpt1 - no_errors TRPT1 HGNC ENSG00000149743 17 0 0 19 2 9.52381 SMPD1 0 genome.wustl.edu 37 11 6412941 6412941 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 6412941 6412941 C T SNP SMPD1 ENST00000342245 human ensembl 74_37 +1 known silent c.646 p.L216 0.789 pfam_PEstase_dom,pirsf_Sphingomy_PDE pfam_PEstase_dom,superfamily_Saposin-like,smart_SaposinB,pirsf_Sphingomy_PDE,pfscan_SaposinB - no_errors SMPD1 HGNC ENSG00000166311 40 0 0 46 4 8 HPX 0 genome.wustl.edu 37 11 6461427 6461427 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 6461427 6461427 G A SNP HPX ENST00000265983 human ensembl 74_37 -1 known missense c.304 p.R102C 1.000 pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Hemopexin_chordata pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Hemopexin_chordata - no_errors HPX HGNC ENSG00000110169 81 0 0 68 12 15 MALAT1 0 genome.wustl.edu 37 11 65272709 65272709 + RNA SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 65272709 65272709 T C SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MALAT1 HGNC ENSG00000251562 46 0 0 45 8 15.0943 SCYL1 0 genome.wustl.edu 37 11 65294590 65294590 + Splice_Site SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 65294590 65294590 T C SNP SCYL1 ENST00000270176 human ensembl 74_37 +1 known splice_site c.849+2 e6+2 1.000 - - - no_errors SCYL1 HGNC ENSG00000142186 77 0 0 63 7 10 LTBP3 0 genome.wustl.edu 37 11 65319752 65319752 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 65319752 65319752 C T SNP LTBP3 ENST00000301873 human ensembl 74_37 -1 known missense c.1312 p.A438T 0.019 pfam_TB_dom,superfamily_TB_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP3 HGNC ENSG00000168056 107 0 0 141 14 9.03226 SIPA1 0 genome.wustl.edu 37 11 65409996 65409996 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 65409996 65409996 G A SNP SIPA1 ENST00000394224 human ensembl 74_37 +1 known silent c.870 p.L290 1.000 NULL pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1 HGNC ENSG00000213445 15 0 0 19 3 13.6364 SIPA1 0 genome.wustl.edu 37 11 65417935 65417935 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 65417935 65417935 G A SNP SIPA1 ENST00000394224 human ensembl 74_37 +1 known silent c.2967 p.Q989 0.999 NULL pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1 HGNC ENSG00000213445 51 0 0 78 6 7.14286 CTSW 0 genome.wustl.edu 37 11 65650127 65650127 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 65650127 65650127 G A SNP CTSW ENST00000307886 human ensembl 74_37 +1 known missense c.586 p.V196I 0.582 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSW HGNC ENSG00000172543 69 0 0 78 9 10.3448 CATSPER1 0 genome.wustl.edu 37 11 65792833 65792833 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 65792833 65792833 C T SNP CATSPER1 ENST00000312106 human ensembl 74_37 -1 known missense c.1018 p.G340S 0.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER1 HGNC ENSG00000175294 58 0 0 59 6 9.23077 NPAS4 0 genome.wustl.edu 37 11 66188741 66188741 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 66188741 66188741 G A SNP NPAS4 ENST00000311034 human ensembl 74_37 +1 known missense c.91 p.E31K 1.000 NULL pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors NPAS4 HGNC ENSG00000174576 46 0 0 49 4 7.54717 ENSG00000255680 0 genome.wustl.edu 37 11 6640672 6640672 + RNA SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 6640672 6640672 T C SNP ENSG00000255680 ENST00000545572 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors RP11-732A19.9 Clone_based_vega_gene ENSG00000255680 114 0 0 121 23 15.9722 SPTBN2 0 genome.wustl.edu 37 11 66460509 66460509 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 66460509 66460509 G T SNP SPTBN2 ENST00000309996 human ensembl 74_37 -1 known missense c.4917 p.D1639E 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN2 HGNC ENSG00000173898 89 0 0 97 11 10.1852 LRFN4 0 genome.wustl.edu 37 11 66625483 66625483 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 66625483 66625483 C T SNP LRFN4 ENST00000309602 human ensembl 74_37 +1 known missense c.268 p.R90C 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN4 HGNC ENSG00000173621 55 0 0 80 10 11.1111 KDM2A 0 genome.wustl.edu 37 11 67021875 67021875 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 67021875 67021875 A G SNP KDM2A ENST00000529006 human ensembl 74_37 +1 known missense c.3293 p.E1098G 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2A HGNC ENSG00000173120 72 0 0 89 16 15.2381 OR10A5 0 genome.wustl.edu 37 11 6867802 6867802 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 6867802 6867802 G A SNP OR10A5 ENST00000379831 human ensembl 74_37 +1 known missense c.901 p.E301K 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A5 HGNC ENSG00000166363 107 0 0 108 14 11.4754 SHANK2 0 genome.wustl.edu 37 11 70332482 70332482 + Missense_Mutation SNP A A T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 70332482 70332482 A T SNP SHANK2 ENST00000338508 human ensembl 74_37 -1 known missense c.3919 p.S1307T 0.992 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 118 0 0 141 24 14.5455 ARHGEF17 0 genome.wustl.edu 37 11 73074493 73074493 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 73074493 73074493 G A SNP ARHGEF17 ENST00000263674 human ensembl 74_37 +1 known missense c.5239 p.D1747N 1.000 superfamily_WD40_repeat_dom pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF17 HGNC ENSG00000110237 24 0 0 50 4 7.40741 P4HA3 0 genome.wustl.edu 37 11 74015430 74015430 + Silent SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 74015430 74015430 A G SNP P4HA3 ENST00000331597 human ensembl 74_37 -1 known silent c.228 p.H76 1.000 pfam_Pro_4_hyd_alph_N pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors P4HA3 HGNC ENSG00000149380 140 0 0 164 17 9.39227 CAPN5 0 genome.wustl.edu 37 11 76825449 76825449 + Missense_Mutation SNP G G C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 76825449 76825449 G C SNP CAPN5 ENST00000278559 human ensembl 74_37 +1 known missense c.668 p.S223T 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN5 HGNC ENSG00000149260 265 0 0 275 36 11.5756 PCF11 0 genome.wustl.edu 37 11 82877707 82877707 + Missense_Mutation SNP A A C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 82877707 82877707 A C SNP PCF11 ENST00000298281 human ensembl 74_37 +1 known missense c.1768 p.S590R 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom - no_errors PCF11 HGNC ENSG00000165494 76 0 0 81 13 13.8298 SYTL2 0 genome.wustl.edu 37 11 85436230 85436230 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 85436230 85436230 C A SNP SYTL2 ENST00000359152 human ensembl 74_37 -1 known missense c.2842 p.V948L 0.557 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYTL2 HGNC ENSG00000137501 77 0 0 86 10 10.4167 ST5 0 genome.wustl.edu 37 11 8732756 8732756 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 8732756 8732756 A G SNP ST5 ENST00000313726 human ensembl 74_37 -1 known missense c.2195 p.M732T 1.000 pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_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 ST5 HGNC ENSG00000166444 69 0 0 79 14 15.0538 CTSC 0 genome.wustl.edu 37 11 88045562 88045562 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 88045562 88045562 T C SNP CTSC ENST00000227266 human ensembl 74_37 -1 known missense c.479 p.Q160R 0.001 NULL pfam_Peptidase_C1A_C,pfam_CathepsinC_exc,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSC HGNC ENSG00000109861 110 0 0 118 16 11.9403 GRM5 0 genome.wustl.edu 37 11 88300827 88300827 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 88300827 88300827 C A SNP GRM5 ENST00000305447 human ensembl 74_37 -1 known missense c.2024 p.G675V 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C - no_errors GRM5 HGNC ENSG00000168959 47 0 0 48 11 18.6441 GRM5 0 genome.wustl.edu 37 11 88780392 88780392 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 88780392 88780392 C T SNP GRM5 ENST00000305447 human ensembl 74_37 -1 known missense c.649 p.V217M 0.999 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C - no_errors GRM5 HGNC ENSG00000168959 74 0 0 90 11 10.8911 IPO7 0 genome.wustl.edu 37 11 9444593 9444593 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 9444593 9444593 A G SNP IPO7 ENST00000379719 human ensembl 74_37 +1 known missense c.947 p.Y316C 1.000 pfam_Cse1,superfamily_ARM-type_fold pfam_Importin-beta_N,pfam_Cse1,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO7 HGNC ENSG00000205339 63 0 0 86 9 9.47368 C12orf42 0 genome.wustl.edu 37 12 103696165 103696165 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 103696165 103696165 C T SNP C12orf42 ENST00000378113 human ensembl 74_37 -1 known silent c.804 p.A268 0.000 NULL NULL - no_errors C12orf42 HGNC ENSG00000179088 135 0 0 116 20 14.7059 KLRD1 0 genome.wustl.edu 37 12 10460612 10460612 + RNA SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 10460612 10460612 C T SNP KLRD1 ENST00000538997 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors KLRD1 HGNC ENSG00000134539 29 0 0 43 6 12.2449 APPL2 0 genome.wustl.edu 37 12 105600917 105600917 + Nonsense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 105600917 105600917 G T SNP APPL2 ENST00000551662 human ensembl 74_37 -1 known nonsense c.561 p.Y187* 1.000 NULL pfam_PTB/PI_dom,pfam_Pleckstrin_homology,pfam_PTB,smart_Pleckstrin_homology,smart_PTB/PI_dom,pfscan_Pleckstrin_homology,pfscan_PTB/PI_dom - no_errors APPL2 HGNC ENSG00000136044 82 0 0 95 16 14.4144 RFX4 0 genome.wustl.edu 37 12 107109241 107109241 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 107109241 107109241 G A SNP RFX4 ENST00000357881 human ensembl 74_37 +1 known missense c.1084 p.V362M 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX4 HGNC ENSG00000111783 60 0 0 55 13 19.1176 ENSG00000257579 0 genome.wustl.edu 37 12 108003894 108003894 + RNA SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 108003894 108003894 C T SNP ENSG00000257579 ENST00000548473 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-128P10.1 Clone_based_vega_gene ENSG00000257579 62 0 0 65 11 14.4737 WSCD2 0 genome.wustl.edu 37 12 108641980 108641980 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 108641980 108641980 C T SNP WSCD2 ENST00000261400 human ensembl 74_37 +1 known missense c.1618 p.R540C 1.000 superfamily_P-loop_NTPase pfam_WSC_carb-bd,superfamily_P-loop_NTPase,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD2 HGNC ENSG00000075035 55 0 0 66 11 14.2857 KCTD10 0 genome.wustl.edu 37 12 109889606 109889606 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 109889606 109889606 C T SNP KCTD10 ENST00000228495 human ensembl 74_37 -1 known missense c.736 p.E246K 1.000 NULL pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD10 HGNC ENSG00000110906 36 0 0 36 8 18.1818 MVK 0 genome.wustl.edu 37 12 110017685 110017685 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 110017685 110017685 C A SNP MVK ENST00000228510 human ensembl 74_37 +1 known missense c.305 p.A102D 0.000 superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_Mev_gal_kin pfam_GHMP_kinase_N_dom,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,prints_Mevalonate/galactokinase,prints_Galkinase,tigrfam_Mev_gal_kin - no_errors MVK HGNC ENSG00000110921 50 0 0 57 8 12.3077 NAA25 0 genome.wustl.edu 37 12 112481496 112481496 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 112481496 112481496 C T SNP NAA25 ENST00000261745 human ensembl 74_37 -1 known missense c.2183 p.R728H 0.986 NULL pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom - no_errors NAA25 HGNC ENSG00000111300 90 0 0 115 19 14.1791 HECTD4 0 genome.wustl.edu 37 12 112717172 112717172 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 112717172 112717172 A G SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known missense c.1115 p.L372P 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 109 0 0 95 18 15.9292 OAS3 0 genome.wustl.edu 37 12 113384577 113384577 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 113384577 113384577 G A SNP OAS3 ENST00000228928 human ensembl 74_37 +1 known silent c.666 p.T222 0.929 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 10 0 0 19 2 9.52381 LHX5 0 genome.wustl.edu 37 12 113906065 113906065 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 113906065 113906065 C A SNP LHX5 ENST00000261731 human ensembl 74_37 -1 known missense c.542 p.R181L 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 LHX5 HGNC ENSG00000089116 60 0 0 67 9 11.8421 TBX5 0 genome.wustl.edu 37 12 114841585 114841585 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 114841585 114841585 G A SNP TBX5 ENST00000310346 human ensembl 74_37 -1 known missense c.119 p.S40L 0.053 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX5 HGNC ENSG00000089225 128 0 0 101 16 13.6752 PRB2 0 genome.wustl.edu 37 12 11546301 11546301 + Silent SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 11546301 11546301 A G SNP PRB2 ENST00000389362 human ensembl 74_37 -1 known silent c.711 p.S237 0.022 NULL NULL - no_errors PRB2 HGNC ENSG00000121335 448 0 0 462 74 13.806 RNF34 0 genome.wustl.edu 37 12 121854119 121854119 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 121854119 121854119 C T SNP RNF34 ENST00000392465 human ensembl 74_37 +1 known missense c.167 p.T56M 0.082 superfamily_Znf_FYVE_PHD superfamily_Znf_FYVE_PHD,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF34 HGNC ENSG00000170633 217 0 0 209 18 7.92952 BCL7A 0 genome.wustl.edu 37 12 122468687 122468687 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 122468687 122468687 C T SNP BCL7A ENST00000538010 human ensembl 74_37 +1 known silent c.174 p.D58 0.947 NULL pfam_BCL7 - no_errors BCL7A HGNC ENSG00000110987 56 0 0 64 9 12.3288 LRRC43 0 genome.wustl.edu 37 12 122677438 122677438 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 122677438 122677438 G A SNP LRRC43 ENST00000339777 human ensembl 74_37 +1 known silent c.1236 p.S412 0.000 NULL NULL - no_errors LRRC43 HGNC ENSG00000158113 47 0 0 60 9 13.0435 B3GNT4 0 genome.wustl.edu 37 12 122691022 122691022 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 122691022 122691022 G A SNP B3GNT4 ENST00000324189 human ensembl 74_37 +1 known missense c.224 p.R75Q 0.010 NULL pfam_Glyco_trans_31,pfam_Fringe-like - no_errors B3GNT4 HGNC ENSG00000176383 219 0 0 246 31 11.1913 HCAR2 0 genome.wustl.edu 37 12 123187448 123187448 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 123187448 123187448 C T SNP HCAR2 ENST00000328880 human ensembl 74_37 -1 known missense c.383 p.R128Q 0.961 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors HCAR2 HGNC ENSG00000182782 96 0 0 109 16 12.8 DNAH10 0 genome.wustl.edu 37 12 124343781 124343781 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 124343781 124343781 G A SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.6361 p.V2121I 1.000 pfam_ATPase_dyneun-rel_AAA,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,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 18 0 0 30 3 9.09091 AACS 0 genome.wustl.edu 37 12 125591695 125591695 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 125591695 125591695 G T SNP AACS ENST00000316519 human ensembl 74_37 +1 known missense c.796 p.G266C 0.671 pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth - no_errors AACS HGNC ENSG00000081760 74 0 0 79 13 14.1304 DUSP16 0 genome.wustl.edu 37 12 12630318 12630318 + Nonsense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 12630318 12630318 G A SNP DUSP16 ENST00000228862 human ensembl 74_37 -1 known nonsense c.1447 p.R483* 0.000 NULL 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_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP16 HGNC ENSG00000111266 136 0 0 111 22 16.5414 TMEM132D 0 genome.wustl.edu 37 12 129566363 129566363 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 129566363 129566363 C T SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known missense c.1864 p.A622T 0.955 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 63 0 0 54 9 14.2857 SFSWAP 0 genome.wustl.edu 37 12 132241151 132241151 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 132241151 132241151 C T SNP SFSWAP ENST00000261674 human ensembl 74_37 +1 known missense c.1682 p.S561L 0.015 NULL pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp - no_errors SFSWAP HGNC ENSG00000061936 42 0 0 34 6 15 GRIN2B 0 genome.wustl.edu 37 12 13716856 13716856 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 13716856 13716856 C T SNP GRIN2B ENST00000609686 human ensembl 74_37 -1 known missense c.3316 p.E1106K 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 54 0 0 75 11 12.7907 PLBD1 0 genome.wustl.edu 37 12 14659149 14659149 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 14659149 14659149 G A SNP PLBD1 ENST00000240617 human ensembl 74_37 -1 known missense c.1426 p.R476C 1.000 pfam_PLipase_B-like pfam_PLipase_B-like - no_errors PLBD1 HGNC ENSG00000121316 46 0 0 64 7 9.85915 ABCC9 0 genome.wustl.edu 37 12 21968783 21968783 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 21968783 21968783 T C SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known missense c.3937 p.K1313E 1.000 superfamily_P-loop_NTPase,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,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 87 0 0 72 13 15.2941 ABCC9 0 genome.wustl.edu 37 12 22068751 22068751 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 22068751 22068751 G T SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known missense c.667 p.L223M 1.000 prints_Sulphorea_rcpt pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 69 0 0 61 9 12.8571 IQSEC3 0 genome.wustl.edu 37 12 248455 248455 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 248455 248455 G A SNP IQSEC3 ENST00000326261 human ensembl 74_37 +1 known silent c.1926 p.S642 0.738 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 4 26.6667 ITPR2 0 genome.wustl.edu 37 12 26580933 26580933 + Silent SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 26580933 26580933 A G SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known silent c.6858 p.G2286 0.999 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 34 0 0 47 7 12.963 ALG10 0 genome.wustl.edu 37 12 34177054 34177054 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 34177054 34177054 T C SNP ALG10 ENST00000266483 human ensembl 74_37 +1 known missense c.329 p.L110S 0.999 pfam_Alg10,pirsf_Alg10 pfam_Alg10,pirsf_Alg10 - no_errors ALG10 HGNC ENSG00000139133 134 0 0 136 17 11.1111 GXYLT1 0 genome.wustl.edu 37 12 42491723 42491723 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 42491723 42491723 A G SNP GXYLT1 ENST00000398675 human ensembl 74_37 -1 known missense c.977 p.F326S 1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GXYLT1 HGNC ENSG00000151233 49 0 0 48 7 12.7273 HDAC7 0 genome.wustl.edu 37 12 48189994 48189994 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 48189994 48189994 G A SNP HDAC7 ENST00000380610 human ensembl 74_37 -1 known missense c.842 p.S281L 0.827 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC7 HGNC ENSG00000061273 15 0 0 13 6 31.5789 COL2A1 0 genome.wustl.edu 37 12 48391985 48391985 + Splice_Site SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 48391985 48391985 C A SNP COL2A1 ENST00000380518 human ensembl 74_37 -1 known splice_site c.310-1 e4-1 1.000 - - - no_errors COL2A1 HGNC ENSG00000139219 87 0 0 83 13 13.5417 ADCY6 0 genome.wustl.edu 37 12 49177093 49177093 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 49177093 49177093 C T SNP ADCY6 ENST00000307885 human ensembl 74_37 -1 known missense c.125 p.R42H 0.999 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY6 HGNC ENSG00000174233 32 0 0 25 4 13.7931 DDX23 0 genome.wustl.edu 37 12 49230000 49230000 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 49230000 49230000 C T SNP DDX23 ENST00000308025 human ensembl 74_37 -1 known missense c.1286 p.R429H 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX23 HGNC ENSG00000174243 120 0 0 148 23 13.4503 FKBP11 0 genome.wustl.edu 37 12 49315865 49315865 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 49315865 49315865 C A SNP FKBP11 ENST00000550765 human ensembl 74_37 -1 known missense c.508 p.G170C 1.000 NULL pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP11 HGNC ENSG00000134285 109 0 0 99 11 10 KMT2D 0 genome.wustl.edu 37 12 49440558 49440558 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 49440558 49440558 G A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known silent c.4252 p.L1418 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 45 0 0 45 7 13.4615 KMT2D 0 genome.wustl.edu 37 12 49440559 49440559 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 49440559 49440559 C T SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.4251 p.M1417I 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 45 0 0 45 7 13.4615 KRT84 0 genome.wustl.edu 37 12 52774338 52774338 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 52774338 52774338 C T SNP KRT84 ENST00000257951 human ensembl 74_37 -1 known silent c.1233 p.E411 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT84 HGNC ENSG00000161849 25 0 0 26 4 13.3333 KRT77 0 genome.wustl.edu 37 12 53097189 53097189 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 53097189 53097189 C T SNP KRT77 ENST00000341809 human ensembl 74_37 -1 known silent c.30 p.A10 0.004 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT77 HGNC ENSG00000189182 53 0 0 59 5 7.8125 KRT8 0 genome.wustl.edu 37 12 53298699 53298699 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 53298699 53298699 G A SNP KRT8 ENST00000293308 human ensembl 74_37 -1 known missense c.67 p.R23C 1.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT8 HGNC ENSG00000170421 19 0 0 32 4 11.1111 HOXC8 0 genome.wustl.edu 37 12 54403113 54403113 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 54403113 54403113 C T SNP HOXC8 ENST00000040584 human ensembl 74_37 +1 known silent c.45 p.A15 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_HTH_motif - no_errors HOXC8 HGNC ENSG00000037965 227 0 0 236 22 8.52713 SMUG1 0 genome.wustl.edu 37 12 54577528 54577528 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 54577528 54577528 C T SNP SMUG1 ENST00000337581 human ensembl 74_37 -1 known missense c.197 p.R66H 0.912 superfamily_Uracil-DNA_glycosylase-like pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like - no_errors SMUG1 HGNC ENSG00000123415 45 0 0 47 9 16.0714 DCD 0 genome.wustl.edu 37 12 55039032 55039032 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 55039032 55039032 C T SNP DCD ENST00000293371 human ensembl 74_37 -1 known missense c.214 p.G72R 0.007 NULL NULL - no_errors DCD HGNC ENSG00000161634 68 0 0 73 15 17.0455 SUOX 0 genome.wustl.edu 37 12 56397746 56397746 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 56397746 56397746 G A SNP SUOX ENST00000266971 human ensembl 74_37 +1 known silent c.573 p.Q191 0.997 superfamily_OxRdtase_Mopterin-bd_dom,prints_Mopterin_OxRdtase_euk pfam_OxRdtase_Mopterin-bd_dom,pfam_MoCF_OxRdtse_dimer,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_OxRdtase_Mopterin-bd_dom,superfamily_Ig_E-set,superfamily_Cyt_B5-like_heme/steroid-bd,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Mopterin_OxRdtase_euk,prints_Cyt_B5-like_heme/steroid-bd - no_errors SUOX HGNC ENSG00000139531 48 0 0 58 10 14.7059 MIP 0 genome.wustl.edu 37 12 56847487 56847487 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 56847487 56847487 G A SNP MIP ENST00000257979 human ensembl 74_37 -1 known missense c.413 p.T138M 0.997 pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP - no_errors MIP HGNC ENSG00000135517 39 0 0 47 7 12.963 ANO2 0 genome.wustl.edu 37 12 5963246 5963246 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 5963246 5963246 T C SNP ANO2 ENST00000356134 human ensembl 74_37 -1 known missense c.584 p.E195G 1.000 NULL pfam_Anoctamin - no_errors ANO2 HGNC ENSG00000047617 267 0 0 251 26 9.38628 NOP2 0 genome.wustl.edu 37 12 6669713 6669713 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 6669713 6669713 C T SNP NOP2 ENST00000322166 human ensembl 74_37 -1 known missense c.1460 p.C487Y 1.000 pfam_Fmu/NOL1/Nop2p,pfam_rRNA_MeTrfase_FtsJ_dom,tigrfam_Nop2p pfam_Fmu/NOL1/Nop2p,pfam_P120R,pfam_rRNA_MeTrfase_FtsJ_dom,prints_RCMT,prints_RCMT_NOP2,tigrfam_Nop2p - no_errors NOP2 HGNC ENSG00000111641 41 0 0 60 6 9.09091 CD4 0 genome.wustl.edu 37 12 6925423 6925423 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 6925423 6925423 C A SNP CD4 ENST00000011653 human ensembl 74_37 +1 known missense c.809 p.P270H 0.000 pfam_CD4-extracel,smart_Ig_sub pfam_CD4-extracel,pfam_Ig_C2-set,pfam_Tcell_CD4_Cterm,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,pfam_NK_rcpt_2B4_Ig_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Ag_CD4 - no_errors CD4 HGNC ENSG00000010610 103 0 0 128 23 15.2318 ATN1 0 genome.wustl.edu 37 12 7045897 7045897 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 7045897 7045897 G A SNP ATN1 ENST00000356654 human ensembl 74_37 +1 known silent c.1467 p.Q489 0.700 pfam_Atrophin-like pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 222 1 0.44843 200 27 11.8943 LGR5 0 genome.wustl.edu 37 12 71978276 71978276 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 71978276 71978276 A G SNP LGR5 ENST00000266674 human ensembl 74_37 +1 known missense c.2486 p.E829G 1.000 NULL pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors LGR5 HGNC ENSG00000139292 41 0 0 48 7 12.7273 SLC2A3 0 genome.wustl.edu 37 12 8083159 8083159 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 8083159 8083159 A G SNP SLC2A3 ENST00000075120 human ensembl 74_37 -1 known missense c.590 p.L197P 0.011 pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_3,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A3 HGNC ENSG00000059804 112 0 0 125 18 12.5874 CLEC4A 0 genome.wustl.edu 37 12 8288248 8288248 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 8288248 8288248 T C SNP CLEC4A ENST00000229332 human ensembl 74_37 +1 known silent c.366 p.T122 0.002 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC4A HGNC ENSG00000111729 78 0 0 60 5 7.69231 FAM90A1 0 genome.wustl.edu 37 12 8375189 8375189 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 8375189 8375189 G A SNP FAM90A1 ENST00000307435 human ensembl 74_37 -1 known silent c.624 p.A208 0.000 NULL NULL - no_errors FAM90A1 HGNC ENSG00000171847 109 0 0 114 14 10.9375 C12orf50 0 genome.wustl.edu 37 12 88390245 88390245 + Silent SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 88390245 88390245 A G SNP C12orf50 ENST00000298699 human ensembl 74_37 -1 known silent c.387 p.H129 1.000 NULL NULL - no_errors C12orf50 HGNC ENSG00000165805 57 0 0 62 7 10.1449 ATP2B1 0 genome.wustl.edu 37 12 89992959 89992959 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 89992959 89992959 C A SNP ATP2B1 ENST00000261173 human ensembl 74_37 -1 known missense c.3286 p.A1096S 1.000 NULL 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 ATP2B1 HGNC ENSG00000070961 93 0 0 107 16 13.0081 EPYC 0 genome.wustl.edu 37 12 91365683 91365683 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 91365683 91365683 C T SNP EPYC ENST00000261172 human ensembl 74_37 -1 known missense c.596 p.R199H 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors EPYC HGNC ENSG00000083782 22 0 0 26 5 16.129 A2M 0 genome.wustl.edu 37 12 9251308 9251308 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 9251308 9251308 G A SNP A2M ENST00000318602 human ensembl 74_37 -1 known silent c.1746 p.H582 0.000 pfam_A2M_N_2 pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin - no_errors A2M HGNC ENSG00000175899 23 0 0 23 5 17.8571 ELK3 0 genome.wustl.edu 37 12 96640801 96640801 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 96640801 96640801 G A SNP ELK3 ENST00000228741 human ensembl 74_37 +1 known silent c.291 p.A97 0.158 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELK3 HGNC ENSG00000111145 51 0 0 45 10 18.1818 ZIC2 0 genome.wustl.edu 37 13 100634965 100634965 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 13 100634965 100634965 C A SNP ZIC2 ENST00000376335 human ensembl 74_37 +1 known missense c.647 p.P216H 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC2 HGNC ENSG00000043355 32 0 0 38 4 9.52381 TPP2 0 genome.wustl.edu 37 13 103328732 103328732 + Missense_Mutation SNP A A C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 13 103328732 103328732 A C SNP TPP2 ENST00000376065 human ensembl 74_37 +1 known missense c.3627 p.K1209N 0.935 NULL pfam_Peptidase_S8/S53_dom,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel - no_errors TPP2 HGNC ENSG00000134900 52 0 0 68 11 13.9241 CARS2 0 genome.wustl.edu 37 13 111298303 111298303 + RNA SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 13 111298303 111298303 C T SNP CARS2 ENST00000543487 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CARS2 HGNC ENSG00000134905 94 0 0 122 21 14.6853 ING1 0 genome.wustl.edu 37 13 111371952 111371952 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 13 111371952 111371952 C T SNP ING1 ENST00000375774 human ensembl 74_37 +1 known silent c.942 p.G314 0.991 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING1 HGNC ENSG00000153487 32 0 0 39 7 15.2174 ATP11A 0 genome.wustl.edu 37 13 113508592 113508592 + Splice_Site SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 13 113508592 113508592 G T SNP ATP11A ENST00000375630 human ensembl 74_37 +1 known splice_site c.1992-1 e19-1 1.000 - - - no_errors ATP11A HGNC ENSG00000068650 89 0 0 68 12 15 ATP4B 0 genome.wustl.edu 37 13 114304805 114304805 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 13 114304805 114304805 G A SNP ATP4B ENST00000335288 human ensembl 74_37 -1 known silent c.630 p.L210 0.000 pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta - no_errors ATP4B HGNC ENSG00000186009 54 0 0 78 11 12.3596 XPO4 0 genome.wustl.edu 37 13 21429828 21429828 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 13 21429828 21429828 T C SNP XPO4 ENST00000255305 human ensembl 74_37 -1 known missense c.394 p.I132V 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors XPO4 HGNC ENSG00000132953 57 0 0 71 12 14.4578 ESRRAP2 0 genome.wustl.edu 37 13 21843196 21843196 + RNA SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 13 21843196 21843196 G A SNP ESRRAP2 ENST00000606337 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors ESRRAP2 HGNC ENSG00000235438 36 0 0 37 6 13.9535 RNF17 0 genome.wustl.edu 37 13 25367209 25367209 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 13 25367209 25367209 A G SNP RNF17 ENST00000255324 human ensembl 74_37 +1 known missense c.965 p.Q322R 0.982 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING - no_errors RNF17 HGNC ENSG00000132972 67 0 0 71 10 12.3457 NUPL1 0 genome.wustl.edu 37 13 25914139 25914139 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 13 25914139 25914139 G T SNP NUPL1 ENST00000381736 human ensembl 74_37 +1 known missense c.1667 p.S556I 1.000 NULL NULL - no_errors NUPL1 HGNC ENSG00000139496 185 0 0 174 25 12.5628 FLT1 0 genome.wustl.edu 37 13 28913392 28913392 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 13 28913392 28913392 G T SNP FLT1 ENST00000282397 human ensembl 74_37 -1 known missense c.2401 p.P801T 1.000 superfamily_Kinase-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR1_rcpt - no_errors FLT1 HGNC ENSG00000102755 54 0 0 41 4 8.88889 VWA8 0 genome.wustl.edu 37 13 42407524 42407524 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 13 42407524 42407524 C T SNP VWA8 ENST00000379310 human ensembl 74_37 -1 known silent c.1569 p.T523 0.900 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A - no_errors VWA8 HGNC ENSG00000102763 57 0 0 63 6 8.69565 DNAJC15 0 genome.wustl.edu 37 13 43659911 43659911 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 13 43659911 43659911 G A SNP DNAJC15 ENST00000379221 human ensembl 74_37 +1 known missense c.319 p.A107T 1.000 pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC15 HGNC ENSG00000120675 60 0 0 62 10 13.8889 SERP2 0 genome.wustl.edu 37 13 44948177 44948177 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 13 44948177 44948177 C T SNP SERP2 ENST00000493476 human ensembl 74_37 +1 known missense c.16 p.R6W 1.000 pfam_ER_stress-assoc pfam_ER_stress-assoc - no_errors SERP2 HGNC ENSG00000151778 25 0 0 22 6 21.4286 SPERT 0 genome.wustl.edu 37 13 46287535 46287535 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 13 46287535 46287535 C T SNP SPERT ENST00000310521 human ensembl 74_37 +1 known silent c.375 p.D125 0.995 NULL NULL - no_errors SPERT HGNC ENSG00000174015 102 0 0 110 15 12 SIAH3 0 genome.wustl.edu 37 13 46425671 46425671 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 13 46425671 46425671 C T SNP SIAH3 ENST00000400405 human ensembl 74_37 -1 known missense c.94 p.G32R 0.993 NULL pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like - no_errors SIAH3 HGNC ENSG00000215475 74 0 0 114 19 14.2857 LMO7 0 genome.wustl.edu 37 13 76407186 76407186 + Splice_Site SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 13 76407186 76407186 G T SNP LMO7 ENST00000357063 human ensembl 74_37 +1 known splice_site c.3106-1 e17-1 1.000 - - - no_errors LMO7 HGNC ENSG00000136153 59 0 0 68 9 11.6883 MYCBP2 0 genome.wustl.edu 37 13 77672621 77672621 + Nonsense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 13 77672621 77672621 C A SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known nonsense c.8668 p.E2890* 1.000 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 83 0 0 92 7 7.07071 OXGR1 0 genome.wustl.edu 37 13 97639036 97639036 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 13 97639036 97639036 C T SNP OXGR1 ENST00000298440 human ensembl 74_37 -1 known silent c.978 p.E326 0.767 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors OXGR1 HGNC ENSG00000165621 81 0 0 113 13 10.3175 EIF5 0 genome.wustl.edu 37 14 103807325 103807325 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 14 103807325 103807325 T C SNP EIF5 ENST00000216554 human ensembl 74_37 +1 known missense c.1232 p.V411A 1.000 NULL pfam_Transl_init_fac_IF2/IF5,pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Transl_init_fac_IF2/IF5_N,superfamily_Transl_init_fac_IF2/IF5_Zn-bd,smart_Transl_init_fac_IF2/IF5,smart_W2_domain - no_errors EIF5 HGNC ENSG00000100664 75 0 0 84 10 10.6383 CEP170B 0 genome.wustl.edu 37 14 105353595 105353595 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 14 105353595 105353595 T C SNP CEP170B ENST00000453495 human ensembl 74_37 +1 known missense c.3022 p.S1008P 0.811 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170B HGNC ENSG00000099814 25 0 0 20 4 16.6667 AHNAK2 0 genome.wustl.edu 37 14 105416224 105416224 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 14 105416224 105416224 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.5564 p.A1855V 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 298 0 0 307 52 14.4847 RPGRIP1 0 genome.wustl.edu 37 14 21811292 21811292 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 14 21811292 21811292 A G SNP RPGRIP1 ENST00000206660 human ensembl 74_37 +1 known missense c.3437 p.Y1146C 0.993 NULL pfam_DUF3250,superfamily_C2_dom - no_errors RPGRIP1 HGNC ENSG00000092200 82 0 0 91 15 14.1509 LRP10 0 genome.wustl.edu 37 14 23342624 23342624 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 14 23342624 23342624 C A SNP LRP10 ENST00000359591 human ensembl 74_37 +1 known missense c.184 p.L62M 1.000 superfamily_CUB_dom,smart_CUB_dom pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP10 HGNC ENSG00000197324 53 0 0 51 9 15 PRMT5 0 genome.wustl.edu 37 14 23393383 23393383 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 14 23393383 23393383 G A SNP PRMT5 ENST00000324366 human ensembl 74_37 -1 known silent c.1209 p.N403 1.000 pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5 pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5 - no_errors PRMT5 HGNC ENSG00000100462 73 0 0 65 14 17.7215 MYH6 0 genome.wustl.edu 37 14 23853688 23853688 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 14 23853688 23853688 C A SNP MYH6 ENST00000356287 human ensembl 74_37 -1 known missense c.5528 p.R1843M 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 MYH6 HGNC ENSG00000197616 212 0 0 253 34 11.8467 MYH6 0 genome.wustl.edu 37 14 23862141 23862141 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 14 23862141 23862141 C T SNP MYH6 ENST00000356287 human ensembl 74_37 -1 known silent c.3231 p.Q1077 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 MYH6 HGNC ENSG00000197616 89 0 0 87 16 15.534 MYH7 0 genome.wustl.edu 37 14 23889338 23889338 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 14 23889338 23889338 C T SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known missense c.3442 p.E1148K 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 27 0 0 22 5 18.5185 TM9SF1 0 genome.wustl.edu 37 14 24664130 24664130 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 14 24664130 24664130 G A SNP TM9SF1 ENST00000556387 human ensembl 74_37 -1 known silent c.723 p.G241 0.978 NULL pfam_EMP70,pfam_Snf7 - no_errors TM9SF1 HGNC ENSG00000100926 205 0 0 204 21 9.33333 ADCY4 0 genome.wustl.edu 37 14 24795334 24795334 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 14 24795334 24795334 T C SNP ADCY4 ENST00000310677 human ensembl 74_37 -1 known missense c.1606 p.T536A 1.000 pfam_Adenylate_cyclase-like 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 44 0 0 50 13 20.6349 NFATC4 0 genome.wustl.edu 37 14 24846034 24846034 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 14 24846034 24846034 G A SNP NFATC4 ENST00000413692 human ensembl 74_37 +1 known missense c.2780 p.S927N 1.000 NULL 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 37 0 0 59 7 10.6061 BNIP3P1 0 genome.wustl.edu 37 14 28734355 28734355 + RNA SNP A A T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 14 28734355 28734355 A T SNP BNIP3P1 ENST00000550043 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors BNIP3P1 HGNC ENSG00000197358 39 0 0 31 4 11.4286 NID2 0 genome.wustl.edu 37 14 52496277 52496277 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 14 52496277 52496277 G A SNP NID2 ENST00000216286 human ensembl 74_37 -1 known missense c.2389 p.R797W 0.916 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_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID2 HGNC ENSG00000087303 109 0 0 138 12 8 RHOJ 0 genome.wustl.edu 37 14 63749933 63749933 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 14 63749933 63749933 C T SNP RHOJ ENST00000316754 human ensembl 74_37 +1 known missense c.497 p.A166V 1.000 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,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOJ HGNC ENSG00000126785 37 0 0 45 9 16.6667 SPTB 0 genome.wustl.edu 37 14 65241933 65241933 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 14 65241933 65241933 G A SNP SPTB ENST00000389722 human ensembl 74_37 -1 known silent c.4752 p.N1584 1.000 pirsf_Spectrin_bsu 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 64 0 0 75 9 10.7143 ACTN1 0 genome.wustl.edu 37 14 69341670 69341670 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 14 69341670 69341670 G A SNP ACTN1 ENST00000394419 human ensembl 74_37 -1 known missense c.2651 p.A884V 1.000 pfam_EF-hand_Ca_insen 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 ACTN1 HGNC ENSG00000072110 37 0 0 58 6 9.375 ACTN1 0 genome.wustl.edu 37 14 69358971 69358971 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 14 69358971 69358971 C T SNP ACTN1 ENST00000394419 human ensembl 74_37 -1 known silent c.885 p.P295 0.014 pfam_Spectrin_repeat 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 ACTN1 HGNC ENSG00000072110 90 0 0 90 15 14.2857 GALNT16 0 genome.wustl.edu 37 14 69806298 69806298 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 14 69806298 69806298 T C SNP GALNT16 ENST00000337827 human ensembl 74_37 +1 known silent c.1149 p.Y383 0.935 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT16 HGNC ENSG00000100626 56 0 0 82 10 10.8696 TTC9 0 genome.wustl.edu 37 14 71109099 71109099 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 14 71109099 71109099 C T SNP TTC9 ENST00000256367 human ensembl 74_37 +1 known silent c.253 p.L85 1.000 smart_TPR_repeat pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC9 HGNC ENSG00000133985 11 0 0 5 4 44.4444 SIPA1L1 0 genome.wustl.edu 37 14 72128161 72128161 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 14 72128161 72128161 G A SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known silent c.2232 p.P744 0.502 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 SIPA1L1 HGNC ENSG00000197555 61 0 0 54 8 12.9032 HEATR4 0 genome.wustl.edu 37 14 73989730 73989730 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 14 73989730 73989730 C T SNP HEATR4 ENST00000334988 human ensembl 74_37 -1 known missense c.127 p.V43I 0.000 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors HEATR4 HGNC ENSG00000187105 137 0 0 136 18 11.6883 ELMSAN1 0 genome.wustl.edu 37 14 74196362 74196362 + Missense_Mutation SNP A A C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 14 74196362 74196362 A C SNP ELMSAN1 ENST00000286523 human ensembl 74_37 -1 known missense c.2076 p.H692Q 1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC ENSG00000156030 47 0 0 57 8 12.3077 TGFB3 0 genome.wustl.edu 37 14 76427265 76427265 + Splice_Site SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 14 76427265 76427265 C T SNP TGFB3 ENST00000238682 human ensembl 74_37 -1 known splice_site c.1080+1 e6+1 1.000 - - - no_errors TGFB3 HGNC ENSG00000119699 81 0 0 70 16 18.6047 SAMD15 0 genome.wustl.edu 37 14 77844529 77844529 + Silent SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 14 77844529 77844529 A G SNP SAMD15 ENST00000216471 human ensembl 74_37 +1 known silent c.768 p.P256 0.032 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD15 HGNC ENSG00000100583 99 0 0 95 19 16.6667 NRXN3 0 genome.wustl.edu 37 14 79181293 79181293 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 14 79181293 79181293 C T SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known missense c.1849 p.R617C 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 50 0 0 54 7 11.4754 PTPN21 0 genome.wustl.edu 37 14 88945851 88945851 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 14 88945851 88945851 C T SNP PTPN21 ENST00000328736 human ensembl 74_37 -1 known missense c.1924 p.G642R 1.000 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN21 HGNC ENSG00000070778 34 0 0 53 15 22.0588 KCNK13 0 genome.wustl.edu 37 14 90528604 90528604 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 14 90528604 90528604 C T SNP KCNK13 ENST00000282146 human ensembl 74_37 +1 known missense c.55 p.R19C 1.000 prints_2pore_dom_K_chnl_THIK pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_THIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK13 HGNC ENSG00000152315 10 0 0 9 8 47.0588 CPSF2 0 genome.wustl.edu 37 14 92601758 92601758 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 14 92601758 92601758 A G SNP CPSF2 ENST00000298875 human ensembl 74_37 +1 known missense c.463 p.I155V 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 94 0 0 95 16 14.4144 DICER1 0 genome.wustl.edu 37 14 95562465 95562465 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 14 95562465 95562465 C T SNP DICER1 ENST00000343455 human ensembl 74_37 -1 known missense c.4792 p.D1598N 0.550 superfamily_RNase_III_dom pfam_RNase_III_dom,pfam_PAZ_dom,pfam_Dicer_dimerisation_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_P-loop_NTPase,superfamily_PAZ_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_PAZ_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom - no_errors DICER1 HGNC ENSG00000100697 286 0 0 337 44 11.5486 CYFIP1 0 genome.wustl.edu 37 15 22954217 22954217 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 15 22954217 22954217 C T SNP CYFIP1 ENST00000313077 human ensembl 74_37 +1 known missense c.1367 p.A456V 1.000 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC ENSG00000068793 66 0 0 84 13 13.4021 MAGEL2 0 genome.wustl.edu 37 15 23890196 23890196 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 15 23890196 23890196 G A SNP MAGEL2 ENST00000532292 human ensembl 74_37 -1 known silent c.885 p.S295 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC ENSG00000254585 82 0 0 83 11 11.7021 SNORD116-20 0 genome.wustl.edu 37 15 25332929 25332929 + RNA SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 15 25332929 25332929 G T SNP SNORD116-20 ENST00000567527 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors SNORD116-20 HGNC ENSG00000261069 92 0 0 100 13 11.5044 ATP10A 0 genome.wustl.edu 37 15 25958904 25958904 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 15 25958904 25958904 C A SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known missense c.2261 p.R754L 0.969 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 ATP10A HGNC ENSG00000206190 49 0 0 81 12 12.9032 OCA2 0 genome.wustl.edu 37 15 28202854 28202854 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 15 28202854 28202854 C T SNP OCA2 ENST00000354638 human ensembl 74_37 -1 known missense c.1664 p.R555H 1.000 pfam_Cit_transptr-like_dom,tigrfam_Arsenical_pump_ArsB pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB - no_errors OCA2 HGNC ENSG00000104044 41 0 0 55 4 6.77966 TRPM1 0 genome.wustl.edu 37 15 31294572 31294572 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 15 31294572 31294572 C T SNP TRPM1 ENST00000542188 human ensembl 74_37 -1 known missense c.4382 p.R1461H 0.001 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 87 0 0 113 14 11.0236 RYR3 0 genome.wustl.edu 37 15 33954456 33954456 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 15 33954456 33954456 C T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known silent c.4725 p.R1575 0.004 NULL 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 15 0 0 16 4 20 RYR3 0 genome.wustl.edu 37 15 33999249 33999249 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 15 33999249 33999249 G A SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.6613 p.V2205M 1.000 pfam_Ca-rel_channel 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 37 0 0 29 4 12.1212 RYR3 0 genome.wustl.edu 37 15 34030748 34030748 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 15 34030748 34030748 C T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.7613 p.T2538M 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 74 0 0 65 11 14.4737 THBS1 0 genome.wustl.edu 37 15 39874866 39874866 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 15 39874866 39874866 C T SNP THBS1 ENST00000260356 human ensembl 74_37 +1 known silent c.540 p.D180 0.019 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS1 HGNC ENSG00000137801 60 0 0 67 5 6.94444 BAHD1 0 genome.wustl.edu 37 15 40751366 40751366 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 15 40751366 40751366 C T SNP BAHD1 ENST00000416165 human ensembl 74_37 +1 known missense c.703 p.R235C 0.092 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors BAHD1 HGNC ENSG00000140320 34 0 0 33 6 15.3846 DLL4 0 genome.wustl.edu 37 15 41228765 41228765 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 15 41228765 41228765 T C SNP DLL4 ENST00000249749 human ensembl 74_37 +1 known missense c.1580 p.F527S 1.000 NULL pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,superfamily_Growth_fac_rcpt_N_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_DSL,pfscan_EG-like_dom - no_errors DLL4 HGNC ENSG00000128917 17 0 0 18 3 14.2857 NUSAP1 0 genome.wustl.edu 37 15 41650390 41650390 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 15 41650390 41650390 C T SNP NUSAP1 ENST00000559596 human ensembl 74_37 +1 known silent c.594 p.S198 1.000 NULL NULL - no_errors NUSAP1 HGNC ENSG00000137804 32 0 0 35 2 5.40541 TGM7 0 genome.wustl.edu 37 15 43579478 43579478 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 15 43579478 43579478 C T SNP TGM7 ENST00000452443 human ensembl 74_37 -1 known missense c.865 p.V289I 0.985 pfam_Transglutaminase-like,smart_Transglutaminase-like pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM7 HGNC ENSG00000159495 20 0 0 18 3 14.2857 MAP1A 0 genome.wustl.edu 37 15 43814151 43814151 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 15 43814151 43814151 C T SNP MAP1A ENST00000399453 human ensembl 74_37 +1 known silent c.480 p.C160 0.996 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 73 0 0 84 7 7.69231 MAP1A 0 genome.wustl.edu 37 15 43818213 43818213 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 15 43818213 43818213 G A SNP MAP1A ENST00000399453 human ensembl 74_37 +1 known silent c.4542 p.T1514 0.000 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 55 0 0 53 11 17.1875 B2M 0 genome.wustl.edu 37 15 45003779 45003779 + Missense_Mutation SNP T T A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 15 45003779 45003779 T A SNP B2M ENST00000544417 human ensembl 74_37 +1 known missense c.35 p.L12Q 0.097 NULL pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors B2M HGNC ENSG00000166710 58 0 0 71 9 11.25 ENSG00000259479 0 genome.wustl.edu 37 15 45131662 45131662 + RNA SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 15 45131662 45131662 T C SNP ENSG00000259479 ENST00000561384 human ensembl 74_37 -1 putative rna NULL NULL 1.000 - - - no_errors CTD-2008A1.2 Clone_based_vega_gene ENSG00000259479 62 0 0 57 12 17.3913 SEMA6D 0 genome.wustl.edu 37 15 48052500 48052500 + Splice_Site SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 15 48052500 48052500 G A SNP SEMA6D ENST00000316364 human ensembl 74_37 +1 known splice_site c.110-1 e2-1 1.000 - - - no_errors SEMA6D HGNC ENSG00000137872 29 0 0 47 7 12.963 FBN1 0 genome.wustl.edu 37 15 48730036 48730036 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 15 48730036 48730036 T C SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.6242 p.Q2081R 1.000 pfam_TB_dom,superfamily_TB_dom,pirsf_FBN 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 62 0 0 91 13 12.5 DMXL2 0 genome.wustl.edu 37 15 51828804 51828804 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 15 51828804 51828804 C T SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known missense c.1873 p.A625T 1.000 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 109 0 0 104 13 11.1111 UNC13C 0 genome.wustl.edu 37 15 54542453 54542453 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 15 54542453 54542453 G A SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.3259 p.A1087T 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 47 0 0 56 4 6.66667 HERC1 0 genome.wustl.edu 37 15 63970208 63970208 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 15 63970208 63970208 C T SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known silent c.6906 p.E2302 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 62 0 0 81 7 7.95455 SNX22 0 genome.wustl.edu 37 15 64446187 64446187 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 15 64446187 64446187 G A SNP SNX22 ENST00000325881 human ensembl 74_37 +1 known missense c.446 p.C149Y 0.000 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX22 HGNC ENSG00000157734 161 0 0 145 17 10.4938 BBS4 0 genome.wustl.edu 37 15 73007688 73007688 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 15 73007688 73007688 T C SNP BBS4 ENST00000395205 human ensembl 74_37 +1 known missense c.301 p.C101R 0.997 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors BBS4 HGNC ENSG00000140463 94 0 0 95 14 12.844 CCDC33 0 genome.wustl.edu 37 15 74623544 74623544 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 15 74623544 74623544 G T SNP CCDC33 ENST00000321288 human ensembl 74_37 +1 known missense c.2287 p.V763L 1.000 NULL pfam_C2_dom,superfamily_C2_dom - no_errors CCDC33 HGNC ENSG00000140481 39 0 0 36 8 18.1818 LMAN1L 0 genome.wustl.edu 37 15 75105256 75105256 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 15 75105256 75105256 C A SNP LMAN1L ENST00000309664 human ensembl 74_37 +1 known missense c.61 p.H21N 0.000 NULL pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf - no_errors LMAN1L HGNC ENSG00000140506 130 0 0 158 19 10.7345 ODF3L1 0 genome.wustl.edu 37 15 76019508 76019508 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 15 76019508 76019508 T C SNP ODF3L1 ENST00000332145 human ensembl 74_37 +1 known missense c.452 p.V151A 0.545 NULL pfam_SHIPPO-rpt - no_errors ODF3L1 HGNC ENSG00000182950 203 0 0 234 35 13.0112 TSPAN3 0 genome.wustl.edu 37 15 77348191 77348191 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 15 77348191 77348191 C T SNP TSPAN3 ENST00000267970 human ensembl 74_37 -1 known silent c.270 p.L90 0.076 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN3 HGNC ENSG00000140391 71 0 0 84 12 12.5 MORF4L1 0 genome.wustl.edu 37 15 79189365 79189365 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 15 79189365 79189365 G A SNP MORF4L1 ENST00000331268 human ensembl 74_37 +1 known missense c.1045 p.D349N 1.000 pfam_MRG_dom,pirsf_EAF3/MRG15 pfam_MRG_dom,pfam_Tudor-knot,superfamily_Chromodomain-like,pirsf_EAF3/MRG15 - no_errors MORF4L1 HGNC ENSG00000185787 52 0 0 52 8 13.3333 ARNT2 0 genome.wustl.edu 37 15 80866507 80866507 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 15 80866507 80866507 G T SNP ARNT2 ENST00000303329 human ensembl 74_37 +1 known missense c.1335 p.Q445H 1.000 tigrfam_PAS pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom,prints_Nuc_translocat,tigrfam_PAS - no_errors ARNT2 HGNC ENSG00000172379 84 0 0 69 12 14.8148 IL16 0 genome.wustl.edu 37 15 81601118 81601118 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 15 81601118 81601118 C T SNP IL16 ENST00000302987 human ensembl 74_37 +1 known silent c.3978 p.T1326 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_IL-16 - no_errors IL16 HGNC ENSG00000172349 45 0 0 54 10 15.625 ZSCAN2 0 genome.wustl.edu 37 15 85147384 85147384 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 15 85147384 85147384 G A SNP ZSCAN2 ENST00000448803 human ensembl 74_37 +1 known missense c.226 p.A76T 0.195 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN 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 32 0 0 32 5 13.5135 CIITA 0 genome.wustl.edu 37 16 11012339 11012339 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 11012339 11012339 C T SNP CIITA ENST00000324288 human ensembl 74_37 +1 known silent c.3105 p.L1035 0.059 smart_Leu-rich_rpt_RNase_inh_sub-typ superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact - no_errors CIITA HGNC ENSG00000179583 310 0 0 317 51 13.8587 MPG 0 genome.wustl.edu 37 16 135514 135514 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 135514 135514 G A SNP MPG ENST00000219431 human ensembl 74_37 +1 known missense c.635 p.R212H 0.387 pfam_PurDNA_glycsylse,superfamily_Formyl_transferase_C-like,tigrfam_PurDNA_glycsylse pfam_PurDNA_glycsylse,superfamily_Formyl_transferase_C-like,tigrfam_PurDNA_glycsylse - no_errors MPG HGNC ENSG00000103152 70 0 0 77 12 13.4831 PTX4 0 genome.wustl.edu 37 16 1536140 1536140 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 1536140 1536140 C T SNP PTX4 ENST00000447419 human ensembl 74_37 -1 known missense c.1237 p.G413R 0.034 pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors PTX4 HGNC ENSG00000251692 58 0 0 82 12 12.766 TMC5 0 genome.wustl.edu 37 16 19451656 19451656 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 19451656 19451656 C A SNP TMC5 ENST00000396229 human ensembl 74_37 +1 known missense c.296 p.P99Q 0.494 NULL pfam_TMC - no_errors TMC5 HGNC ENSG00000103534 178 0 0 205 29 12.3932 CDR2 0 genome.wustl.edu 37 16 22359005 22359005 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 22359005 22359005 G A SNP CDR2 ENST00000268383 human ensembl 74_37 -1 known missense c.646 p.R216W 1.000 NULL NULL - no_errors CDR2 HGNC ENSG00000140743 236 0 0 204 25 10.917 CASKIN1 0 genome.wustl.edu 37 16 2237063 2237063 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 2237063 2237063 C T SNP CASKIN1 ENST00000343516 human ensembl 74_37 -1 known silent c.846 p.A282 0.260 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN1 HGNC ENSG00000167971 98 0 0 102 9 8.10811 ABCA3 0 genome.wustl.edu 37 16 2329104 2329104 + Nonsense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 2329104 2329104 G A SNP ABCA3 ENST00000301732 human ensembl 74_37 -1 known nonsense c.4387 p.Q1463* 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ENSG00000167972 60 0 0 74 14 15.9091 ERN2 0 genome.wustl.edu 37 16 23703645 23703645 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 23703645 23703645 G A SNP ERN2 ENST00000256797 human ensembl 74_37 -1 known missense c.2252 p.A751V 0.999 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_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 61 0 0 64 7 9.85915 GTF3C1 0 genome.wustl.edu 37 16 27499732 27499732 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 27499732 27499732 G A SNP GTF3C1 ENST00000356183 human ensembl 74_37 -1 known silent c.3516 p.N1172 0.001 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 151 0 0 154 11 6.66667 SRRM2 0 genome.wustl.edu 37 16 2815886 2815886 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 2815886 2815886 G A SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known missense c.5357 p.R1786Q 0.827 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 54 0 0 43 7 14 PRRT2 0 genome.wustl.edu 37 16 29824719 29824719 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 29824719 29824719 G A SNP PRRT2 ENST00000567659 human ensembl 74_37 +1 known missense c.344 p.S115N 0.853 NULL pfam_CD225/Dispanin_fam - no_errors PRRT2 HGNC ENSG00000167371 107 0 0 95 10 9.52381 ZNF689 0 genome.wustl.edu 37 16 30616285 30616285 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 30616285 30616285 C T SNP ZNF689 ENST00000287461 human ensembl 74_37 -1 known missense c.803 p.R268H 0.156 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 ZNF689 HGNC ENSG00000156853 77 0 0 67 16 19.2771 SRCAP 0 genome.wustl.edu 37 16 30735944 30735944 + Silent SNP T T G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 30735944 30735944 T G SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known silent c.5199 p.S1733 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 102 0 0 119 14 10.5263 PHKG2 0 genome.wustl.edu 37 16 30762564 30762564 + Missense_Mutation SNP C C G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 30762564 30762564 C G SNP PHKG2 ENST00000563588 human ensembl 74_37 +1 known missense c.233 p.T78R 0.969 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Phosph_kin_gamma,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PHKG2 HGNC ENSG00000156873 76 0 0 54 6 10 ITGAX 0 genome.wustl.edu 37 16 31374534 31374534 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 31374534 31374534 C T SNP ITGAX ENST00000268296 human ensembl 74_37 +1 known missense c.1549 p.P517S 0.995 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAX HGNC ENSG00000140678 153 0 0 150 18 10.7143 SLC5A2 0 genome.wustl.edu 37 16 31497187 31497187 + Silent SNP T T G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 31497187 31497187 T G SNP SLC5A2 ENST00000330498 human ensembl 74_37 +1 known silent c.441 p.L147 0.998 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 SLC5A2 HGNC ENSG00000140675 65 0 0 67 15 18.2927 ZSCAN32 0 genome.wustl.edu 37 16 3434841 3434841 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 3434841 3434841 G A SNP ZSCAN32 ENST00000576500 human ensembl 74_37 -1 known missense c.467 p.A156V 0.018 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN32 HGNC ENSG00000140987 164 1 0.606061 201 28 12.2271 ADCY9 0 genome.wustl.edu 37 16 4016604 4016604 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 4016604 4016604 G A SNP ADCY9 ENST00000294016 human ensembl 74_37 -1 known silent c.3234 p.G1078 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 179 0 0 177 31 14.9038 ROGDI 0 genome.wustl.edu 37 16 4848176 4848176 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 4848176 4848176 C T SNP ROGDI ENST00000322048 human ensembl 74_37 -1 known missense c.541 p.A181T 0.995 pfam_RAVE2/Rogdi pfam_RAVE2/Rogdi - no_errors ROGDI HGNC ENSG00000067836 24 0 0 30 3 9.09091 ZNF423 0 genome.wustl.edu 37 16 49670025 49670025 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 49670025 49670025 A G SNP ZNF423 ENST00000262383 human ensembl 74_37 -1 known missense c.3038 p.L1013P 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 35 0 0 44 7 13.7255 SALL1 0 genome.wustl.edu 37 16 51171374 51171374 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 51171374 51171374 G A SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known silent c.3624 p.G1208 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 44 0 0 52 5 8.77193 RPGRIP1L 0 genome.wustl.edu 37 16 53730177 53730177 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 53730177 53730177 C T SNP RPGRIP1L ENST00000379925 human ensembl 74_37 -1 known missense c.116 p.R39H 1.000 NULL pfam_DUF3250,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RPGRIP1L HGNC ENSG00000103494 157 0 0 191 16 7.72947 CAPNS2 0 genome.wustl.edu 37 16 55601280 55601280 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 55601280 55601280 G A SNP CAPNS2 ENST00000457326 human ensembl 74_37 +1 known missense c.612 p.M204I 1.000 NULL pfscan_EF_hand_dom - no_errors CAPNS2 HGNC ENSG00000256812 214 0 0 228 41 15.2416 CNGB1 0 genome.wustl.edu 37 16 57918087 57918087 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 57918087 57918087 C A SNP CNGB1 ENST00000251102 human ensembl 74_37 -1 known missense c.3737 p.R1246M 0.913 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB1 HGNC ENSG00000070729 150 0 0 157 14 8.18713 PRSS54 0 genome.wustl.edu 37 16 58324917 58324917 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 58324917 58324917 C T SNP PRSS54 ENST00000219301 human ensembl 74_37 -1 known missense c.209 p.G70D 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 - no_errors PRSS54 HGNC ENSG00000103023 98 0 0 90 9 9.09091 CA7 0 genome.wustl.edu 37 16 66886682 66886682 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 66886682 66886682 C T SNP CA7 ENST00000338437 human ensembl 74_37 +1 known missense c.584 p.T195I 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA7 HGNC ENSG00000168748 63 0 0 58 9 13.4328 EXOC3L1 0 genome.wustl.edu 37 16 67221487 67221487 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 67221487 67221487 C T SNP EXOC3L1 ENST00000314586 human ensembl 74_37 -1 known silent c.681 p.A227 0.035 pfam_Sec6 pfam_Sec6 - no_errors EXOC3L1 HGNC ENSG00000179044 57 0 0 50 5 9.09091 TMEM208 0 genome.wustl.edu 37 16 67262461 67262461 + Nonsense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 67262461 67262461 C T SNP TMEM208 ENST00000304800 human ensembl 74_37 +1 known nonsense c.226 p.R76* 1.000 pfam_DUF788_TMEM208 pfam_DUF788_TMEM208 - no_errors TMEM208 HGNC ENSG00000168701 30 0 0 33 8 19.5122 SLC7A6 0 genome.wustl.edu 37 16 68330529 68330529 + Splice_Site SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 68330529 68330529 G A SNP SLC7A6 ENST00000219343 human ensembl 74_37 +1 known splice_site c.1270-1 e8-1 1.000 - - - no_errors SLC7A6 HGNC ENSG00000103064 197 0 0 201 24 10.6667 NFAT5 0 genome.wustl.edu 37 16 69660331 69660331 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 69660331 69660331 G T SNP NFAT5 ENST00000432919 human ensembl 74_37 +1 known missense c.153 p.K51N 1.000 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFAT5 HGNC ENSG00000102908 65 0 0 77 10 11.4943 NFAT5 0 genome.wustl.edu 37 16 69727103 69727103 + Silent SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 69727103 69727103 C A SNP NFAT5 ENST00000432919 human ensembl 74_37 +1 known silent c.3375 p.T1125 0.026 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFAT5 HGNC ENSG00000102908 124 0 0 139 30 17.7515 NFAT5 0 genome.wustl.edu 37 16 69727684 69727684 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 69727684 69727684 A G SNP NFAT5 ENST00000432919 human ensembl 74_37 +1 known missense c.3956 p.Q1319R 1.000 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFAT5 HGNC ENSG00000102908 68 0 0 76 16 17.3913 PDXDC2P 0 genome.wustl.edu 37 16 70057543 70057543 + RNA SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 70057543 70057543 G T SNP PDXDC2P ENST00000325845 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors PDXDC2P HGNC ENSG00000196696 184 0 0 191 25 11.5741 AARS 0 genome.wustl.edu 37 16 70305734 70305734 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 70305734 70305734 G A SNP AARS ENST00000261772 human ensembl 74_37 -1 known silent c.621 p.D207 0.942 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,pfam_Pesterase_DHHA1,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 AARS HGNC ENSG00000090861 82 0 0 89 8 8.24742 ZFHX3 0 genome.wustl.edu 37 16 72822269 72822269 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 72822269 72822269 C T SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known silent c.9906 p.L3302 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 78 0 0 89 20 18.3486 ZFHX3 0 genome.wustl.edu 37 16 72992505 72992505 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 72992505 72992505 C T SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known missense c.1540 p.A514T 0.986 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 121 0 0 120 17 12.4088 BCAR1 0 genome.wustl.edu 37 16 75263732 75263732 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 75263732 75263732 C T SNP BCAR1 ENST00000418647 human ensembl 74_37 -1 known missense c.2428 p.A810T 1.000 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 108 0 0 123 8 6.10687 ENSG00000260643 0 genome.wustl.edu 37 16 81087635 81087635 + RNA SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 81087635 81087635 C A SNP ENSG00000260643 ENST00000564536 human ensembl 74_37 -1 known rna NULL NULL 0.925 - - - no_errors RP11-303E16.8 Clone_based_vega_gene ENSG00000260643 67 0 0 78 14 15.2174 CMIP 0 genome.wustl.edu 37 16 81730231 81730231 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 81730231 81730231 G T SNP CMIP ENST00000537098 human ensembl 74_37 +1 known missense c.1597 p.G533W 1.000 NULL NULL - no_errors CMIP HGNC ENSG00000153815 31 0 0 60 5 7.69231 HSD17B2 0 genome.wustl.edu 37 16 82104706 82104706 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 82104706 82104706 G T SNP HSD17B2 ENST00000199936 human ensembl 74_37 +1 known missense c.638 p.R213M 1.000 pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B2 HGNC ENSG00000086696 118 0 0 128 18 12.3288 ZDHHC7 0 genome.wustl.edu 37 16 85009967 85009967 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 85009967 85009967 G A SNP ZDHHC7 ENST00000344861 human ensembl 74_37 -1 known silent c.1020 p.G340 0.991 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC7 HGNC ENSG00000153786 100 0 0 112 25 18.2482 ZCCHC14 0 genome.wustl.edu 37 16 87493704 87493704 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 87493704 87493704 C T SNP ZCCHC14 ENST00000268616 human ensembl 74_37 -1 known missense c.193 p.V65I 0.020 NULL pfam_SAM_type1,pfam_Znf_CCHC,superfamily_Phox,superfamily_SAM/pointed,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC14 HGNC ENSG00000140948 145 0 0 151 24 13.7143 ZNF778 0 genome.wustl.edu 37 16 89293323 89293323 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 89293323 89293323 T C SNP ZNF778 ENST00000433976 human ensembl 74_37 +1 known silent c.543 p.S181 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF778 HGNC ENSG00000170100 127 0 0 143 12 7.74194 USP7 0 genome.wustl.edu 37 16 8987861 8987861 + Silent SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 8987861 8987861 A G SNP USP7 ENST00000344836 human ensembl 74_37 -1 known silent c.3303 p.H1101 1.000 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 107 1 0.925926 126 14 10 DNAH9 0 genome.wustl.edu 37 17 11556249 11556249 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 11556249 11556249 G A SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.2525 p.R842Q 0.722 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 114 0 0 94 18 16.0714 SCARF1 0 genome.wustl.edu 37 17 1538704 1538704 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 1538704 1538704 C T SNP SCARF1 ENST00000263071 human ensembl 74_37 -1 known missense c.1841 p.R614Q 0.886 NULL pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors SCARF1 HGNC ENSG00000074660 73 0 0 67 8 10.6667 TVP23C 0 genome.wustl.edu 37 17 15441469 15441469 + Splice_Site SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 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 86 0 0 103 8 7.20721 RAI1 0 genome.wustl.edu 37 17 17696894 17696894 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 17696894 17696894 A G SNP RAI1 ENST00000353383 human ensembl 74_37 +1 known missense c.632 p.Q211R 1.000 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 70 0 0 103 16 13.4454 RTN4RL1 0 genome.wustl.edu 37 17 1841018 1841018 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 1841018 1841018 G A SNP RTN4RL1 ENST00000331238 human ensembl 74_37 -1 known missense c.98 p.P33L 0.983 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors RTN4RL1 HGNC ENSG00000185924 23 0 0 44 7 13.7255 MAPK7 0 genome.wustl.edu 37 17 19284070 19284070 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 19284070 19284070 T C SNP MAPK7 ENST00000308406 human ensembl 74_37 +1 known missense c.548 p.L183P 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 MAPK7 HGNC ENSG00000166484 47 0 0 34 5 12.8205 SLC47A2 0 genome.wustl.edu 37 17 19582127 19582127 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 19582127 19582127 C T SNP SLC47A2 ENST00000325411 human ensembl 74_37 -1 known missense c.1681 p.A561T 0.000 NULL pfam_MATE,tigrfam_MATE - no_errors SLC47A2 HGNC ENSG00000180638 38 0 0 47 7 12.963 TMEM11 0 genome.wustl.edu 37 17 21101950 21101950 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 21101950 21101950 C T SNP TMEM11 ENST00000317635 human ensembl 74_37 -1 known missense c.266 p.G89D 1.000 NULL NULL - no_errors TMEM11 HGNC ENSG00000178307 55 0 0 73 12 14.1176 KCNJ12 0 genome.wustl.edu 37 17 21319207 21319207 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 21319207 21319207 G A SNP KCNJ12 ENST00000331718 human ensembl 74_37 +1 known missense c.553 p.A185T 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 58 0 0 88 8 8.33333 SMG6 0 genome.wustl.edu 37 17 2186096 2186096 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 2186096 2186096 G A SNP SMG6 ENST00000263073 human ensembl 74_37 -1 known missense c.2506 p.R836W 1.000 NULL pfam_EST1,smart_PIN_dom - no_errors SMG6 HGNC ENSG00000070366 63 0 0 69 10 12.6582 CCL1 0 genome.wustl.edu 37 17 32688803 32688803 + Splice_Site SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 32688803 32688803 C T SNP CCL1 ENST00000225842 human ensembl 74_37 -1 known splice_site c.188+1 e2+1 0.837 - - - no_errors CCL1 HGNC ENSG00000108702 155 0 0 180 21 10.4478 OR1E2 0 genome.wustl.edu 37 17 3336588 3336588 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 3336588 3336588 A G SNP OR1E2 ENST00000248384 human ensembl 74_37 -1 known missense c.548 p.I183T 0.556 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 OR1E2 HGNC ENSG00000127780 48 0 0 50 8 13.7931 GPR179 0 genome.wustl.edu 37 17 36499065 36499065 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 36499065 36499065 G A SNP GPR179 ENST00000342292 human ensembl 74_37 -1 known missense c.608 p.T203I 0.992 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 106 0 0 111 12 9.7561 IKZF3 0 genome.wustl.edu 37 17 37922216 37922216 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 37922216 37922216 G A SNP IKZF3 ENST00000346872 human ensembl 74_37 -1 known missense c.1357 p.R453W 0.998 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF3 HGNC ENSG00000161405 140 0 0 127 15 10.5634 TNS4 0 genome.wustl.edu 37 17 38641181 38641181 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 38641181 38641181 C T SNP TNS4 ENST00000254051 human ensembl 74_37 -1 known missense c.1367 p.R456Q 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_PTB,pfam_SH2,smart_SH2,smart_PTB/PI_dom,pfscan_SH2 - no_errors TNS4 HGNC ENSG00000131746 88 0 0 68 9 11.6883 KRT25 0 genome.wustl.edu 37 17 38910657 38910657 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 38910657 38910657 C A SNP KRT25 ENST00000312150 human ensembl 74_37 -1 known missense c.493 p.A165S 1.000 pfam_IF,prints_Keratin_I pfam_IF,prints_Keratin_I - no_errors KRT25 HGNC ENSG00000204897 91 0 0 88 21 19.2661 KRT27 0 genome.wustl.edu 37 17 38936051 38936051 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 38936051 38936051 G A SNP KRT27 ENST00000301656 human ensembl 74_37 -1 known silent c.747 p.P249 0.004 pfam_IF,superfamily_Prefoldin,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT27 HGNC ENSG00000171446 60 0 0 65 10 13.3333 KRTAP4-5 0 genome.wustl.edu 37 17 39305733 39305733 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 39305733 39305733 C T SNP KRTAP4-5 ENST00000343246 human ensembl 74_37 -1 known missense c.287 p.C96Y 0.996 NULL NULL - no_errors KRTAP4-5 HGNC ENSG00000198271 63 0 0 57 9 13.6364 DHX58 0 genome.wustl.edu 37 17 40255749 40255749 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 40255749 40255749 C A SNP DHX58 ENST00000251642 human ensembl 74_37 -1 known missense c.1631 p.R544L 0.000 NULL pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_Helicase_C,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 DHX58 HGNC ENSG00000108771 72 0 0 107 11 9.32203 KAT2A 0 genome.wustl.edu 37 17 40271369 40271369 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 40271369 40271369 G A SNP KAT2A ENST00000225916 human ensembl 74_37 -1 known missense c.967 p.R323W 0.975 pirsf_Hist_acetylase_PCAF,pfam_PCAF_N pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom,prints_Bromodomain - no_errors KAT2A HGNC ENSG00000108773 148 0 0 180 19 9.54774 ATP6V0A1 0 genome.wustl.edu 37 17 40632729 40632729 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 40632729 40632729 C T SNP ATP6V0A1 ENST00000264649 human ensembl 74_37 +1 known silent c.699 p.G233 0.971 pfam_V-ATPase_116kDa_su pfam_V-ATPase_116kDa_su - no_errors ATP6V0A1 HGNC ENSG00000033627 54 0 0 50 9 15.2542 NAGLU 0 genome.wustl.edu 37 17 40695344 40695344 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 40695344 40695344 C T SNP NAGLU ENST00000225927 human ensembl 74_37 +1 known silent c.1320 p.G440 1.000 pfam_NAGLU_tim-barrel pfam_NAGLU_tim-barrel,superfamily_Glycoside_hydrolase_SF - no_errors NAGLU HGNC ENSG00000108784 29 0 0 43 11 20.3704 PSMC3IP 0 genome.wustl.edu 37 17 40725006 40725006 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 40725006 40725006 C T SNP PSMC3IP ENST00000393795 human ensembl 74_37 -1 known missense c.634 p.V212I 0.962 NULL pfam_TBPIP,pfam_BlaI_family - no_errors PSMC3IP HGNC ENSG00000131470 101 0 0 109 19 14.8438 AOC4P 0 genome.wustl.edu 37 17 41020660 41020660 + RNA SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 41020660 41020660 G A SNP AOC4P ENST00000562301 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AOC4P HGNC ENSG00000260105 42 0 0 40 6 13.0435 ANKFY1 0 genome.wustl.edu 37 17 4145690 4145690 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 4145690 4145690 T C SNP ANKFY1 ENST00000570535 human ensembl 74_37 -1 known missense c.190 p.K64E 1.000 NULL pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt - no_errors ANKFY1 HGNC ENSG00000185722 138 0 0 185 29 13.5514 DHX8 0 genome.wustl.edu 37 17 41582101 41582101 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 41582101 41582101 A G SNP DHX8 ENST00000262415 human ensembl 74_37 +1 known missense c.1636 p.N546D 1.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX8 HGNC ENSG00000067596 160 0 0 154 17 9.94152 G6PC3 0 genome.wustl.edu 37 17 42152386 42152386 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 42152386 42152386 G A SNP G6PC3 ENST00000269097 human ensembl 74_37 +1 known missense c.466 p.A156T 1.000 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase - no_errors G6PC3 HGNC ENSG00000141349 191 0 0 221 31 12.3016 ALOX15 0 genome.wustl.edu 37 17 4539052 4539052 + Splice_Site SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 4539052 4539052 A G SNP ALOX15 ENST00000545513 human ensembl 74_37 -1 known splice_site c.1227+2 e9+2 0.994 - - - no_errors ALOX15 HGNC ENSG00000161905 65 0 0 44 9 16.9811 SP2 0 genome.wustl.edu 37 17 45993964 45993964 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 45993964 45993964 C A SNP SP2 ENST00000376741 human ensembl 74_37 +1 known missense c.527 p.P176H 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP2 HGNC ENSG00000167182 50 0 0 44 10 18.5185 HOXB3 0 genome.wustl.edu 37 17 46628308 46628308 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 46628308 46628308 G A SNP HOXB3 ENST00000311626 human ensembl 74_37 -1 known silent c.684 p.S228 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB3 HGNC ENSG00000120093 152 0 0 159 20 11.1732 PSMB6 0 genome.wustl.edu 37 17 4700797 4700797 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 4700797 4700797 C T SNP PSMB6 ENST00000270586 human ensembl 74_37 +1 known missense c.235 p.R79C 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB6 HGNC ENSG00000142507 74 0 0 80 20 20 ZNF652 0 genome.wustl.edu 37 17 47389292 47389292 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 47389292 47389292 G A SNP ZNF652 ENST00000362063 human ensembl 74_37 -1 known silent c.1161 p.C387 0.999 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF652 HGNC ENSG00000198740 75 0 0 78 9 10.3448 SPOP 0 genome.wustl.edu 37 17 47679303 47679303 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 47679303 47679303 C T SNP SPOP ENST00000347630 human ensembl 74_37 -1 known missense c.904 p.A302T 0.997 NULL 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 141 0 0 124 26 17.3333 CAMTA2 0 genome.wustl.edu 37 17 4883429 4883429 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 4883429 4883429 T C SNP CAMTA2 ENST00000414043 human ensembl 74_37 -1 known silent c.1257 p.V419 0.774 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 70 0 0 64 11 14.6667 WFIKKN2 0 genome.wustl.edu 37 17 48917397 48917397 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 48917397 48917397 C T SNP WFIKKN2 ENST00000311378 human ensembl 74_37 +1 known missense c.748 p.R250W 0.041 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Netrin_module_non-TIMP,pfam_WAP-type_4-diS_core,pfam_Kazal_dom,pfam_Ig_V-set,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Prot_inh_Kunz-m - no_errors WFIKKN2 HGNC ENSG00000173714 57 0 0 89 20 18.3486 STXBP4 0 genome.wustl.edu 37 17 53076712 53076712 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 53076712 53076712 C T SNP STXBP4 ENST00000376352 human ensembl 74_37 +1 known missense c.187 p.R63C 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_WW_dom,pfam_PDZ,superfamily_PDZ,superfamily_WW_dom,smart_PDZ,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom - no_errors STXBP4 HGNC ENSG00000166263 85 0 0 91 13 12.5 CLTC 0 genome.wustl.edu 37 17 57697508 57697508 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 57697508 57697508 C T SNP CLTC ENST00000269122 human ensembl 74_37 +1 known missense c.16 p.P6S 1.000 superfamily_Clathrin_H-chain_propeller_N,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTC HGNC ENSG00000141367 50 0 0 71 5 6.57895 BRIP1 0 genome.wustl.edu 37 17 59878681 59878681 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 59878681 59878681 A G SNP BRIP1 ENST00000259008 human ensembl 74_37 -1 known missense c.1073 p.L358P 1.000 pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_TIL_dom,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors BRIP1 HGNC ENSG00000136492 183 0 0 180 26 12.6214 FTSJ3 0 genome.wustl.edu 37 17 61898199 61898199 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 61898199 61898199 C T SNP FTSJ3 ENST00000427159 human ensembl 74_37 -1 known missense c.2072 p.R691Q 1.000 pfam_rRNA_MeTfrase_Spb1_C pfam_rRNA_MeTfrase_Spb1_C,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_rRNA_MeTfrase_Spb1_DUF3381 - no_errors FTSJ3 HGNC ENSG00000108592 81 0 0 76 18 19.1489 RGS9 0 genome.wustl.edu 37 17 63206652 63206652 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 63206652 63206652 C A SNP RGS9 ENST00000262406 human ensembl 74_37 +1 known missense c.1336 p.P446T 1.000 NULL pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS9 HGNC ENSG00000108370 114 1 0.869565 121 25 17.1233 PITPNM3 0 genome.wustl.edu 37 17 6376136 6376136 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 6376136 6376136 G A SNP PITPNM3 ENST00000262483 human ensembl 74_37 -1 known missense c.1270 p.R424C 1.000 pfam_DDHD,pfscan_DDHD pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD - no_errors PITPNM3 HGNC ENSG00000091622 34 0 0 42 8 16 SLC13A5 0 genome.wustl.edu 37 17 6606371 6606371 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 6606371 6606371 T C SNP SLC13A5 ENST00000433363 human ensembl 74_37 -1 known missense c.634 p.I212V 0.782 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A5 HGNC ENSG00000141485 99 0 0 126 18 12.5 ABCA10 0 genome.wustl.edu 37 17 67178331 67178331 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 67178331 67178331 G A SNP ABCA10 ENST00000269081 human ensembl 74_37 -1 known missense c.2732 p.T911M 0.001 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ENSG00000154263 56 0 0 72 10 12.1951 TTYH2 0 genome.wustl.edu 37 17 72240133 72240133 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 72240133 72240133 C T SNP TTYH2 ENST00000269346 human ensembl 74_37 +1 known missense c.749 p.A250V 0.218 pfam_Tweety pfam_Tweety - no_errors TTYH2 HGNC ENSG00000141540 44 0 0 65 8 10.9589 ACAP1 0 genome.wustl.edu 37 17 7250431 7250431 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 7250431 7250431 G A SNP ACAP1 ENST00000158762 human ensembl 74_37 +1 known missense c.1213 p.G405R 0.620 smart_ArfGAP,pfscan_ArfGAP pfam_ArfGAP,pfam_Pleckstrin_homology,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_PLipase_C_PInositol-sp_X_dom,pfscan_ArfGAP,prints_ArfGAP - no_errors ACAP1 HGNC ENSG00000072818 45 0 0 49 6 10.9091 ITGB4 0 genome.wustl.edu 37 17 73748642 73748642 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 73748642 73748642 C T SNP ITGB4 ENST00000200181 human ensembl 74_37 +1 known silent c.4092 p.S1364 1.000 pirsf_Integrin_bsu-4 pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3 - no_errors ITGB4 HGNC ENSG00000132470 113 0 0 114 22 16.1765 UNK 0 genome.wustl.edu 37 17 73819409 73819409 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 73819409 73819409 G A SNP UNK ENST00000293218 human ensembl 74_37 +1 known missense c.2311 p.E771K 0.999 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors UNK HGNC ENSG00000132478 39 0 0 51 6 10.5263 SEPT9 0 genome.wustl.edu 37 17 75484906 75484906 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 75484906 75484906 G A SNP SEPT9 ENST00000427177 human ensembl 74_37 +1 known missense c.1222 p.V408I 1.000 pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1,superfamily_P-loop_NTPase - no_errors SEPT9 HGNC ENSG00000184640 53 0 0 71 7 8.97436 PGS1 0 genome.wustl.edu 37 17 76415691 76415691 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 76415691 76415691 G A SNP PGS1 ENST00000262764 human ensembl 74_37 +1 known missense c.1616 p.R539H 1.000 pirsf_PLipase-D_PtdSer-synthase-type pirsf_PLipase-D_PtdSer-synthase-type,pfscan_PLipase_D/transphosphatidylase - no_errors PGS1 HGNC ENSG00000087157 144 0 0 131 22 14.3791 TBC1D16 0 genome.wustl.edu 37 17 77926499 77926499 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 77926499 77926499 G A SNP TBC1D16 ENST00000310924 human ensembl 74_37 -1 known missense c.898 p.R300C 0.999 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D16 HGNC ENSG00000167291 30 0 0 47 12 20.339 SLC26A11 0 genome.wustl.edu 37 17 78195522 78195522 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 78195522 78195522 G A SNP SLC26A11 ENST00000361193 human ensembl 74_37 +1 known missense c.163 p.G55S 0.998 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A11 HGNC ENSG00000181045 47 0 0 63 10 13.6986 AATK 0 genome.wustl.edu 37 17 79094232 79094232 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 79094232 79094232 G A SNP AATK ENST00000326724 human ensembl 74_37 -1 known silent c.3504 p.S1168 0.992 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 11 0 0 15 4 21.0526 NOTUM 0 genome.wustl.edu 37 17 79910971 79910971 + Nonsense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 79910971 79910971 G A SNP NOTUM ENST00000409678 human ensembl 74_37 -1 known nonsense c.1357 p.R453* 1.000 NULL pfam_NOTUM - no_errors NOTUM HGNC ENSG00000185269 44 0 0 67 9 11.8421 HEXDC 0 genome.wustl.edu 37 17 80399708 80399708 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 80399708 80399708 G A SNP HEXDC ENST00000337014 human ensembl 74_37 +1 known missense c.1285 p.A429T 0.994 NULL pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF - no_errors HEXDC HGNC ENSG00000169660 186 1 0.534759 198 27 12 PFAS 0 genome.wustl.edu 37 17 8170707 8170707 + Missense_Mutation SNP G G C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 8170707 8170707 G C SNP PFAS ENST00000314666 human ensembl 74_37 +1 known missense c.3193 p.V1065L 1.000 tigrfam_PRibForGlyAmidine_synth pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_PurM_N-like,superfamily_AIR_synth_C_dom,tigrfam_PRibForGlyAmidine_synth - no_errors PFAS HGNC ENSG00000178921 150 0 0 179 29 13.9423 ARHGEF15 0 genome.wustl.edu 37 17 8224225 8224225 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 8224225 8224225 G A SNP ARHGEF15 ENST00000361926 human ensembl 74_37 +1 known missense c.2440 p.E814K 0.529 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ENSG00000198844 93 0 0 89 15 14.4231 NTN1 0 genome.wustl.edu 37 17 9066226 9066226 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 9066226 9066226 G A SNP NTN1 ENST00000173229 human ensembl 74_37 +1 known missense c.1115 p.R372H 1.000 pfam_EGF_laminin,smart_EGF_laminin pfam_Laminin_N,pfam_Netrin_module_non-TIMP,pfam_EGF_laminin,superfamily_TIMP-like_OB-fold,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain - no_errors NTN1 HGNC ENSG00000065320 36 0 0 31 9 22.5 MC2R 0 genome.wustl.edu 37 18 13885437 13885437 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 18 13885437 13885437 C T SNP MC2R ENST00000327606 human ensembl 74_37 -1 known silent c.81 p.P27 0.177 prints_ACTH_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ACTH_rcpt,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn - no_errors MC2R HGNC ENSG00000185231 39 0 0 48 4 7.69231 CABLES1 0 genome.wustl.edu 37 18 20833000 20833000 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 18 20833000 20833000 A G SNP CABLES1 ENST00000256925 human ensembl 74_37 +1 known missense c.1523 p.H508R 1.000 superfamily_Cyclin-like,pirsf_Cdk5/c-Abl_linker_Cables pfam_Cyclin_N,superfamily_Cyclin-like,pirsf_Cdk5/c-Abl_linker_Cables - no_errors CABLES1 HGNC ENSG00000134508 47 0 0 50 11 18.0328 LAMA3 0 genome.wustl.edu 37 18 21500978 21500978 + Missense_Mutation SNP G G C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 18 21500978 21500978 G C SNP LAMA3 ENST00000313654 human ensembl 74_37 +1 known missense c.8003 p.R2668T 0.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA3 HGNC ENSG00000053747 62 0 0 48 4 7.69231 DSG3 0 genome.wustl.edu 37 18 29040826 29040826 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 18 29040826 29040826 G T SNP DSG3 ENST00000257189 human ensembl 74_37 +1 known missense c.715 p.G239C 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG3 HGNC ENSG00000134757 41 0 0 41 6 12.766 SETBP1 0 genome.wustl.edu 37 18 42531485 42531485 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 18 42531485 42531485 G A SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known missense c.2180 p.R727Q 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 56 0 0 59 9 13.2353 SLC14A1 0 genome.wustl.edu 37 18 43319189 43319189 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 18 43319189 43319189 G T SNP SLC14A1 ENST00000415427 human ensembl 74_37 +1 known missense c.893 p.G298V 1.000 pfam_Urea_transporter pfam_Urea_transporter - no_errors SLC14A1 HGNC ENSG00000141469 158 0 0 149 21 12.3529 EPG5 0 genome.wustl.edu 37 18 43464743 43464743 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 18 43464743 43464743 T C SNP EPG5 ENST00000282041 human ensembl 74_37 -1 known missense c.5143 p.K1715E 0.055 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 46 0 0 49 7 12.5 SMAD2 0 genome.wustl.edu 37 18 45371690 45371690 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 18 45371690 45371690 A G SNP SMAD2 ENST00000591214 human ensembl 74_37 -1 known missense c.1211 p.F404S 0.000 smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD2 HGNC ENSG00000175387 96 0 0 108 12 10 EPB41L3 0 genome.wustl.edu 37 18 5434086 5434086 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 18 5434086 5434086 C T SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known missense c.640 p.V214M 1.000 pirsf_Band_41_protein,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 69 0 0 61 11 15.2778 EPB41L3 0 genome.wustl.edu 37 18 5630422 5630422 + RNA SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 18 5630422 5630422 G A SNP EPB41L3 ENST00000578431 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors EPB41L3 HGNC ENSG00000082397 65 0 0 82 12 12.766 MALT1 0 genome.wustl.edu 37 18 56363666 56363666 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 18 56363666 56363666 C T SNP MALT1 ENST00000348428 human ensembl 74_37 +1 known missense c.445 p.R149W 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Pept_C14_caspase,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_DEATH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Pept_C14_ICE_p20,pfscan_Ig-like_dom - no_errors MALT1 HGNC ENSG00000172175 56 0 0 55 11 16.6667 TMEM200C 0 genome.wustl.edu 37 18 5890353 5890353 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 18 5890353 5890353 C T SNP TMEM200C ENST00000383490 human ensembl 74_37 -1 known silent c.1710 p.A570 0.000 NULL pfam_DUF2371_TMEM200 - no_errors TMEM200C HGNC ENSG00000206432 33 0 0 38 8 17.3913 LAMA1 0 genome.wustl.edu 37 18 6942091 6942091 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 18 6942091 6942091 C T SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.9215 p.G3072E 0.999 NULL 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 125 0 0 120 13 9.77444 SALL3 0 genome.wustl.edu 37 18 76755286 76755286 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 18 76755286 76755286 G T SNP SALL3 ENST00000537592 human ensembl 74_37 +1 known missense c.3295 p.A1099S 0.915 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 13 0 0 9 4 30.7692 CTDP1 0 genome.wustl.edu 37 18 77477647 77477647 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 18 77477647 77477647 G A SNP CTDP1 ENST00000299543 human ensembl 74_37 +1 known silent c.2181 p.P727 0.001 pfam_FCP1_C,superfamily_BRCT_dom,pfscan_BRCT_dom pfam_FCP1_C,pfam_NIF,superfamily_HAD-like_dom,superfamily_BRCT_dom,superfamily_Single_hybrid_motif,smart_NIF,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_NIF,tigrfam_FCP1_euk - no_errors CTDP1 HGNC ENSG00000060069 87 0 0 108 15 12.1951 PQLC1 0 genome.wustl.edu 37 18 77664150 77664150 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 18 77664150 77664150 G A SNP PQLC1 ENST00000590381 human ensembl 74_37 -1 known missense c.371 p.T124M 1.000 NULL NULL - no_errors PQLC1 HGNC ENSG00000122490 55 0 0 60 9 13.0435 SOGA2 0 genome.wustl.edu 37 18 8825987 8825987 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 18 8825987 8825987 G A SNP SOGA2 ENST00000359865 human ensembl 74_37 +1 known silent c.4479 p.S1493 0.004 NULL pfam_SOGA - no_errors SOGA2 HGNC ENSG00000168502 33 0 0 42 7 14.2857 PDE4A 0 genome.wustl.edu 37 19 10574506 10574506 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 10574506 10574506 A G SNP PDE4A ENST00000352831 human ensembl 74_37 +1 known missense c.1781 p.N594S 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4A HGNC ENSG00000065989 95 0 0 91 16 14.9533 ILF3 0 genome.wustl.edu 37 19 10787915 10787915 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 10787915 10787915 C A SNP ILF3 ENST00000449870 human ensembl 74_37 +1 known missense c.488 p.P163H 1.000 pfam_DZF,smart_DZF pfam_DZF,pfam_dsRNA-bd_dom,smart_DZF,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors ILF3 HGNC ENSG00000129351 93 0 0 80 17 17.5258 DNM2 0 genome.wustl.edu 37 19 10883278 10883278 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 10883278 10883278 T C SNP DNM2 ENST00000314646 human ensembl 74_37 +1 known missense c.359 p.I120T 1.000 pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF - no_errors DNM2 HGNC ENSG00000079805 63 0 0 62 12 16.2162 DOCK6 0 genome.wustl.edu 37 19 11361640 11361640 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 11361640 11361640 C T SNP DOCK6 ENST00000294618 human ensembl 74_37 -1 known silent c.630 p.A210 0.002 NULL pfam_DOCK_C,pfam_DOCK_C/D_N - no_errors DOCK6 HGNC ENSG00000130158 46 0 0 50 6 10.7143 ZNF136 0 genome.wustl.edu 37 19 12298640 12298640 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 12298640 12298640 A G SNP ZNF136 ENST00000343979 human ensembl 74_37 +1 known missense c.1447 p.K483E 0.878 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 ZNF136 HGNC ENSG00000196646 40 0 0 45 8 15.0943 TNPO2 0 genome.wustl.edu 37 19 12822392 12822392 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 12822392 12822392 G A SNP TNPO2 ENST00000425528 human ensembl 74_37 -1 known missense c.926 p.S309L 0.997 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors TNPO2 HGNC ENSG00000105576 35 0 0 28 5 15.1515 IL27RA 0 genome.wustl.edu 37 19 14161650 14161650 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 14161650 14161650 G A SNP IL27RA ENST00000263379 human ensembl 74_37 +1 known missense c.1483 p.A495T 0.178 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL27RA HGNC ENSG00000104998 43 0 0 56 10 15.1515 SLC1A6 0 genome.wustl.edu 37 19 15061128 15061128 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 15061128 15061128 C T SNP SLC1A6 ENST00000221742 human ensembl 74_37 -1 known missense c.1574 p.R525Q 0.965 NULL pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A6 HGNC ENSG00000105143 57 0 0 67 14 17.284 MED26 0 genome.wustl.edu 37 19 16687986 16687986 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 16687986 16687986 C A SNP MED26 ENST00000263390 human ensembl 74_37 -1 known missense c.655 p.G219C 0.019 NULL pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors MED26 HGNC ENSG00000105085 110 1 0.900901 108 13 10.7438 KIAA1683 0 genome.wustl.edu 37 19 18368002 18368002 + Nonsense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 18368002 18368002 C T SNP KIAA1683 ENST00000392413 human ensembl 74_37 -1 known nonsense c.4092 p.W1364* 0.014 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 76 0 0 70 15 17.6471 GMIP 0 genome.wustl.edu 37 19 19747534 19747534 + Missense_Mutation SNP A A C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 19747534 19747534 A C SNP GMIP ENST00000203556 human ensembl 74_37 -1 known missense c.1309 p.S437A 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors GMIP HGNC ENSG00000089639 68 0 0 86 9 9.47368 ZNF738 0 genome.wustl.edu 37 19 21544605 21544605 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 21544605 21544605 C A SNP ZNF738 ENST00000597810 human ensembl 74_37 +1 putative missense c.41 p.A14E 0.514 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF738 HGNC ENSG00000172687 33 0 0 41 7 14.5833 ZNF254 0 genome.wustl.edu 37 19 24289419 24289419 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 24289419 24289419 G A SNP ZNF254 ENST00000357002 human ensembl 74_37 +1 known missense c.227 p.R76Q 0.019 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 ZNF254 HGNC ENSG00000213096 106 0 0 116 18 13.4328 ZNF555 0 genome.wustl.edu 37 19 2853027 2853027 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 2853027 2853027 A G SNP ZNF555 ENST00000334241 human ensembl 74_37 +1 known missense c.964 p.S322G 0.835 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 54 0 0 55 12 17.9104 CHST8 0 genome.wustl.edu 37 19 34263835 34263835 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 34263835 34263835 C T SNP CHST8 ENST00000262622 human ensembl 74_37 +1 known missense c.1142 p.A381V 0.999 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST8 HGNC ENSG00000124302 33 0 0 54 9 14.2857 GIPC3 0 genome.wustl.edu 37 19 3586647 3586647 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 3586647 3586647 C T SNP GIPC3 ENST00000322315 human ensembl 74_37 +1 known missense c.380 p.T127M 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ - no_errors GIPC3 HGNC ENSG00000179855 125 0 0 148 17 10.303 ARHGAP33 0 genome.wustl.edu 37 19 36279044 36279044 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 36279044 36279044 C A SNP ARHGAP33 ENST00000007510 human ensembl 74_37 +1 known missense c.3577 p.P1193T 1.000 NULL pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP33 HGNC ENSG00000004777 65 0 0 67 15 18.2927 LRFN3 0 genome.wustl.edu 37 19 36430878 36430878 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 36430878 36430878 C T SNP LRFN3 ENST00000246529 human ensembl 74_37 +1 known missense c.551 p.T184M 0.997 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,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 LRFN3 HGNC ENSG00000126243 158 0 0 191 19 9.04762 TJP3 0 genome.wustl.edu 37 19 3747982 3747982 + Missense_Mutation SNP C C G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 3747982 3747982 C G SNP TJP3 ENST00000262968 human ensembl 74_37 +1 known missense c.2612 p.P871R 0.000 prints_ZonOcculdens pfam_PDZ,pfam_SH3_2,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS3,prints_ZonOcculdens - no_errors TJP3 HGNC ENSG00000105289 25 0 0 32 5 13.5135 SIPA1L3 0 genome.wustl.edu 37 19 38573489 38573489 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 38573489 38573489 G A SNP SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known silent c.1284 p.P428 0.365 NULL pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L3 HGNC ENSG00000105738 88 0 0 70 15 17.6471 IFNL3 0 genome.wustl.edu 37 19 39734753 39734753 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 39734753 39734753 C T SNP IFNL3 ENST00000413851 human ensembl 74_37 -1 known silent c.303 p.T101 0.003 NULL NULL - no_errors IFNL3 HGNC ENSG00000197110 70 0 0 72 9 11.1111 SAMD4B 0 genome.wustl.edu 37 19 39847579 39847579 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 39847579 39847579 G T SNP SAMD4B ENST00000314471 human ensembl 74_37 +1 known missense c.46 p.G16C 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM - no_errors SAMD4B HGNC ENSG00000179134 34 0 0 33 3 8.33333 SAMD4B 0 genome.wustl.edu 37 19 39868230 39868230 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 39868230 39868230 G A SNP SAMD4B ENST00000314471 human ensembl 74_37 +1 known missense c.1210 p.A404T 0.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM - no_errors SAMD4B HGNC ENSG00000179134 39 0 0 60 9 13.0435 PRX 0 genome.wustl.edu 37 19 40900053 40900053 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 40900053 40900053 G A SNP PRX ENST00000324001 human ensembl 74_37 -1 known silent c.4206 p.P1402 0.258 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC ENSG00000105227 109 0 0 125 17 11.9718 PRX 0 genome.wustl.edu 37 19 40901223 40901223 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 40901223 40901223 G A SNP PRX ENST00000324001 human ensembl 74_37 -1 known silent c.3036 p.A1012 0.587 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC ENSG00000105227 72 0 0 70 6 7.89474 SPTBN4 0 genome.wustl.edu 37 19 41066148 41066148 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 41066148 41066148 G T SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known missense c.5754 p.Q1918H 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 76 0 0 104 19 15.4472 ZNF574 0 genome.wustl.edu 37 19 42584249 42584249 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 42584249 42584249 C T SNP ZNF574 ENST00000222339 human ensembl 74_37 +1 known silent c.1761 p.C587 0.880 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF574 HGNC ENSG00000105732 264 0 0 287 48 14.3284 ZNF526 0 genome.wustl.edu 37 19 42729572 42729572 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 42729572 42729572 G T SNP ZNF526 ENST00000301215 human ensembl 74_37 +1 known missense c.1017 p.K339N 0.999 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF526 HGNC ENSG00000167625 53 0 0 68 7 9.33333 CIC 0 genome.wustl.edu 37 19 42794850 42794850 + Nonsense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 42794850 42794850 G T SNP CIC ENST00000575354 human ensembl 74_37 +1 known nonsense c.1930 p.G644* 0.025 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 56 0 0 61 16 20.7792 CIC 0 genome.wustl.edu 37 19 42795222 42795222 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 42795222 42795222 C A SNP CIC ENST00000575354 human ensembl 74_37 +1 known missense c.2302 p.P768T 0.982 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 47 0 0 48 5 9.43396 PAFAH1B3 0 genome.wustl.edu 37 19 42801471 42801471 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 42801471 42801471 T C SNP PAFAH1B3 ENST00000262890 human ensembl 74_37 -1 known missense c.455 p.N152S 1.000 NULL NULL - no_errors PAFAH1B3 HGNC ENSG00000079462 89 0 0 84 15 15.1515 CXCL17 0 genome.wustl.edu 37 19 42938009 42938009 + Splice_Site SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 42938009 42938009 C A SNP CXCL17 ENST00000601181 human ensembl 74_37 -1 known splice_site c.80-1 e2-1 1.000 - - - no_errors CXCL17 HGNC ENSG00000189377 78 0 0 94 15 13.7615 MPND 0 genome.wustl.edu 37 19 4345956 4345956 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 4345956 4345956 C T SNP MPND ENST00000262966 human ensembl 74_37 +1 known missense c.509 p.T170M 0.003 NULL pfam_JAB_MPN_dom - no_errors MPND HGNC ENSG00000008382 19 0 0 27 3 10 ENSG00000267188 0 genome.wustl.edu 37 19 44947129 44947129 + RNA SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 44947129 44947129 C T SNP ENSG00000267188 ENST00000588655 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors CTC-512J12.4 Clone_based_vega_gene ENSG00000267188 17 0 0 18 6 25 APOC4 0 genome.wustl.edu 37 19 45448035 45448035 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 45448035 45448035 C A SNP APOC4 ENST00000419266 human ensembl 74_37 +1 known missense c.106 p.L36M 0.001 NULL NULL - no_errors APOC4 HGNC ENSG00000267467 12 0 0 26 2 7.14286 ZNF296 0 genome.wustl.edu 37 19 45575370 45575370 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 45575370 45575370 G A SNP ZNF296 ENST00000303809 human ensembl 74_37 -1 known missense c.917 p.P306L 0.997 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF296 HGNC ENSG00000170684 59 0 0 57 11 16.1765 PPP1R13L 0 genome.wustl.edu 37 19 45899679 45899679 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 45899679 45899679 C T SNP PPP1R13L ENST00000360957 human ensembl 74_37 -1 known missense c.728 p.R243H 1.000 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PPP1R13L HGNC ENSG00000104881 77 0 0 100 9 8.25688 DMWD 0 genome.wustl.edu 37 19 46289676 46289676 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 46289676 46289676 C T SNP DMWD ENST00000270223 human ensembl 74_37 -1 known missense c.1078 p.V360M 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 - no_errors DMWD HGNC ENSG00000185800 101 0 0 125 15 10.7143 TICAM1 0 genome.wustl.edu 37 19 4816266 4816266 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 4816266 4816266 C T SNP TICAM1 ENST00000248244 human ensembl 74_37 -1 known silent c.2124 p.T708 0.000 pirsf_TICAM1 superfamily_TIR_dom,pirsf_TICAM1 - no_errors TICAM1 HGNC ENSG00000127666 115 0 0 114 19 14.2857 TICAM1 0 genome.wustl.edu 37 19 4818055 4818055 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 4818055 4818055 G A SNP TICAM1 ENST00000248244 human ensembl 74_37 -1 known missense c.335 p.S112L 0.000 pirsf_TICAM1 superfamily_TIR_dom,pirsf_TICAM1 - no_errors TICAM1 HGNC ENSG00000127666 56 0 0 65 11 14.4737 EHD2 0 genome.wustl.edu 37 19 48239678 48239678 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 48239678 48239678 G T SNP EHD2 ENST00000263277 human ensembl 74_37 +1 known missense c.968 p.G323V 1.000 superfamily_P-loop_NTPase pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD2 HGNC ENSG00000024422 87 0 0 112 19 14.5038 FUT2 0 genome.wustl.edu 37 19 49206463 49206463 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 49206463 49206463 G A SNP FUT2 ENST00000391876 human ensembl 74_37 +1 known missense c.250 p.A84T 0.947 pfam_Glyco_trans_11 pfam_Glyco_trans_11 - no_errors FUT2 HGNC ENSG00000176920 42 0 0 49 3 5.76923 TULP2 0 genome.wustl.edu 37 19 49391480 49391480 + Silent SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 49391480 49391480 A G SNP TULP2 ENST00000221399 human ensembl 74_37 -1 known silent c.675 p.S225 0.000 NULL pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C,prints_Tubby_N - no_errors TULP2 HGNC ENSG00000104804 51 0 0 66 6 8.33333 PRMT1 0 genome.wustl.edu 37 19 50191485 50191485 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 50191485 50191485 G A SNP PRMT1 ENST00000454376 human ensembl 74_37 +1 known missense c.1099 p.D367N 0.997 NULL pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors PRMT1 HGNC ENSG00000126457 115 0 0 132 23 14.8387 SPIB 0 genome.wustl.edu 37 19 50926143 50926143 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 50926143 50926143 C T SNP SPIB ENST00000595883 human ensembl 74_37 +1 known missense c.188 p.P63L 0.857 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors SPIB HGNC ENSG00000269404 80 0 0 112 20 15.1515 LRRC4B 0 genome.wustl.edu 37 19 51021443 51021443 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 51021443 51021443 C T SNP LRRC4B ENST00000389201 human ensembl 74_37 -1 known silent c.1527 p.T509 0.983 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4B HGNC ENSG00000131409 18 0 0 23 6 20.6897 SYT3 0 genome.wustl.edu 37 19 51129177 51129177 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 51129177 51129177 G A SNP SYT3 ENST00000338916 human ensembl 74_37 -1 known missense c.1379 p.A460V 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom - no_errors SYT3 HGNC ENSG00000213023 25 0 0 30 5 14.2857 ZNF175 0 genome.wustl.edu 37 19 52091581 52091581 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 52091581 52091581 C T SNP ZNF175 ENST00000262259 human ensembl 74_37 +1 known missense c.1997 p.T666M 0.979 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 ZNF175 HGNC ENSG00000105497 35 0 0 54 4 6.89655 FPR3 0 genome.wustl.edu 37 19 52327888 52327888 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 52327888 52327888 G A SNP FPR3 ENST00000339223 human ensembl 74_37 +1 known missense c.887 p.C296Y 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt - no_errors FPR3 HGNC ENSG00000187474 187 0 0 185 22 10.628 MIR518B 0 genome.wustl.edu 37 19 54206019 54206019 + RNA SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 54206019 54206019 C T SNP MIR518B ENST00000385127 human ensembl 74_37 +1 known rna NULL NULL 0.037 - - - no_errors MIR518B HGNC ENSG00000207862 52 0 0 53 18 25.3521 VSTM1 0 genome.wustl.edu 37 19 54545207 54545207 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 54545207 54545207 T C SNP VSTM1 ENST00000338372 human ensembl 74_37 -1 known silent c.516 p.R172 0.362 NULL smart_Ig_sub,pfscan_Ig-like_dom - no_errors VSTM1 HGNC ENSG00000189068 70 0 0 66 15 18.5185 VSTM1 0 genome.wustl.edu 37 19 54561722 54561722 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 54561722 54561722 C T SNP VSTM1 ENST00000338372 human ensembl 74_37 -1 known missense c.193 p.D65N 0.000 smart_Ig_sub,pfscan_Ig-like_dom smart_Ig_sub,pfscan_Ig-like_dom - no_errors VSTM1 HGNC ENSG00000189068 132 0 0 169 24 12.4352 BRSK1 0 genome.wustl.edu 37 19 55814069 55814069 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 55814069 55814069 G A SNP BRSK1 ENST00000590333 human ensembl 74_37 +1 known missense c.910 p.G304R 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_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors BRSK1 HGNC ENSG00000160469 95 0 0 135 8 5.59441 BRSK1 0 genome.wustl.edu 37 19 55816953 55816953 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 55816953 55816953 C T SNP BRSK1 ENST00000590333 human ensembl 74_37 +1 known missense c.1937 p.S646L 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_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors BRSK1 HGNC ENSG00000160469 238 1 0.41841 253 29 10.2837 FIZ1 0 genome.wustl.edu 37 19 56109101 56109101 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 56109101 56109101 C T SNP FIZ1 ENST00000221665 human ensembl 74_37 -1 known missense c.131 p.R44Q 0.081 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FIZ1 HGNC ENSG00000179943 74 0 0 76 12 13.6364 CCDC106 0 genome.wustl.edu 37 19 56163951 56163951 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 56163951 56163951 G A SNP CCDC106 ENST00000308964 human ensembl 74_37 +1 known missense c.682 p.E228K 0.998 NULL NULL - no_errors CCDC106 HGNC ENSG00000173581 60 0 0 93 11 10.5769 U2AF2 0 genome.wustl.edu 37 19 56170671 56170671 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 56170671 56170671 C T SNP U2AF2 ENST00000308924 human ensembl 74_37 +1 known missense c.145 p.R49W 1.000 tigrfam_U2AF_lg pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_U2AF_lg - no_errors U2AF2 HGNC ENSG00000063244 10 0 0 15 2 11.7647 ZNF835 0 genome.wustl.edu 37 19 57176405 57176405 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 57176405 57176405 G A SNP ZNF835 ENST00000537055 human ensembl 74_37 -1 known silent c.162 p.R54 0.002 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF835 HGNC ENSG00000127903 59 0 0 62 12 16.2162 ZNF814 0 genome.wustl.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 58385546 58385546 G T SNP ZNF814 ENST00000435989 human ensembl 74_37 -1 known missense c.1212 p.D404E 0.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF814 HGNC ENSG00000204514 13 0 0 16 3 15.7895 ZSCAN1 0 genome.wustl.edu 37 19 58565232 58565232 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 58565232 58565232 C A SNP ZSCAN1 ENST00000282326 human ensembl 74_37 +1 known missense c.1040 p.P347Q 0.979 pfscan_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 ZSCAN1 HGNC ENSG00000152467 44 0 0 63 7 10 ZNF135 0 genome.wustl.edu 37 19 58574899 58574899 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 58574899 58574899 C T SNP ZNF135 ENST00000401053 human ensembl 74_37 +1 known silent c.282 p.G94 0.000 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 75 0 0 75 6 7.40741 ZSCAN22 0 genome.wustl.edu 37 19 58846408 58846408 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 58846408 58846408 C T SNP ZSCAN22 ENST00000329665 human ensembl 74_37 +1 known silent c.240 p.P80 0.037 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN 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 ZSCAN22 HGNC ENSG00000182318 53 0 0 57 10 14.9254 ZSCAN22 0 genome.wustl.edu 37 19 58846467 58846467 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 58846467 58846467 C T SNP ZSCAN22 ENST00000329665 human ensembl 74_37 +1 known missense c.299 p.A100V 0.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN 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 ZSCAN22 HGNC ENSG00000182318 42 0 0 42 11 20.7547 ZNF132 0 genome.wustl.edu 37 19 58945306 58945306 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 58945306 58945306 A G SNP ZNF132 ENST00000254166 human ensembl 74_37 -1 known missense c.1505 p.L502P 0.139 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 ZNF132 HGNC ENSG00000131849 39 0 0 50 12 19.3548 MAP2K7 0 genome.wustl.edu 37 19 7975353 7975353 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 7975353 7975353 G A SNP MAP2K7 ENST00000545011 human ensembl 74_37 +1 known missense c.589 p.G197R 0.998 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP2K7 HGNC ENSG00000076984 12 0 0 19 3 13.6364 CD320 0 genome.wustl.edu 37 19 8367417 8367417 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 8367417 8367417 C T SNP CD320 ENST00000301458 human ensembl 74_37 -1 known missense c.779 p.R260H 0.000 NULL pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors CD320 HGNC ENSG00000167775 94 0 0 111 15 11.9048 MYO1F 0 genome.wustl.edu 37 19 8609255 8609255 + Nonsense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 8609255 8609255 G A SNP MYO1F ENST00000338257 human ensembl 74_37 -1 known nonsense c.1450 p.Q484* 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_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1F HGNC ENSG00000142347 47 0 0 61 10 14.0845 MYO1F 0 genome.wustl.edu 37 19 8619539 8619539 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 8619539 8619539 G A SNP MYO1F ENST00000338257 human ensembl 74_37 -1 known missense c.230 p.A77V 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_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1F HGNC ENSG00000142347 87 0 0 96 12 11.1111 MUC16 0 genome.wustl.edu 37 19 9071218 9071218 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 9071218 9071218 C T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.16228 p.A5410T 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 389 1 0.25641 470 58 10.9848 REV1 0 genome.wustl.edu 37 2 100079006 100079006 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 100079006 100079006 A G SNP REV1 ENST00000258428 human ensembl 74_37 -1 known missense c.133 p.S45P 0.354 superfamily_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_DNA_pol_Y-fam_little_finger,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom,pfscan_DNA_repair_prot_UmuC-like_N - no_errors REV1 HGNC ENSG00000135945 111 0 0 101 22 17.8862 CD8BP 0 genome.wustl.edu 37 2 107107468 107107468 + RNA SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 107107468 107107468 C T SNP CD8BP ENST00000416057 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors CD8BP HGNC ENSG00000254126 62 0 0 56 10 15.1515 MALL 0 genome.wustl.edu 37 2 110849314 110849314 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 110849314 110849314 C T SNP MALL ENST00000272462 human ensembl 74_37 -1 known missense c.139 p.A47T 0.952 pfam_Marvel,prints_MAL pfam_Marvel,prints_MAL - no_errors MALL HGNC ENSG00000144063 99 0 0 125 7 5.30303 FBLN7 0 genome.wustl.edu 37 2 112940452 112940452 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 112940452 112940452 G A SNP FBLN7 ENST00000331203 human ensembl 74_37 +1 known missense c.755 p.R252H 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP - no_errors FBLN7 HGNC ENSG00000144152 75 0 0 79 17 17.7083 RGPD8 0 genome.wustl.edu 37 2 113147664 113147664 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 113147664 113147664 C T SNP RGPD8 ENST00000302558 human ensembl 74_37 -1 known missense c.2858 p.G953D 0.004 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,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 RGPD8 HGNC ENSG00000169629 256 0 0 316 36 10.2273 GREB1 0 genome.wustl.edu 37 2 11706632 11706632 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 11706632 11706632 C T SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known missense c.304 p.R102C 1.000 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 66 0 0 67 12 15.1899 GREB1 0 genome.wustl.edu 37 2 11733023 11733023 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 11733023 11733023 G A SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known silent c.1467 p.A489 0.710 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 21 0 0 12 3 20 NTSR2 0 genome.wustl.edu 37 2 11802192 11802192 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 11802192 11802192 C T SNP NTSR2 ENST00000306928 human ensembl 74_37 -1 known missense c.799 p.V267I 0.004 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NT2_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NT2_rcpt,prints_NT_rcpt,prints_GPCR_Rhodpsn - no_errors NTSR2 HGNC ENSG00000169006 112 0 0 135 22 14.0127 INSIG2 0 genome.wustl.edu 37 2 118854319 118854319 + Missense_Mutation SNP A A T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 118854319 118854319 A T SNP INSIG2 ENST00000245787 human ensembl 74_37 +1 known missense c.187 p.I63F 1.000 pfam_INSIG_fam pfam_INSIG_fam - no_errors INSIG2 HGNC ENSG00000125629 117 0 0 119 9 7.03125 RALB 0 genome.wustl.edu 37 2 121036293 121036293 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 121036293 121036293 T C SNP RALB ENST00000474855 human ensembl 74_37 +1 known missense c.119 p.I40T 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,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 RALB HGNC ENSG00000144118 33 0 0 38 6 13.6364 AMMECR1L 0 genome.wustl.edu 37 2 128631753 128631753 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 128631753 128631753 C T SNP AMMECR1L ENST00000272647 human ensembl 74_37 -1 known missense c.56 p.C19Y 1.000 NULL pfam_AMMECR1_domain,superfamily_AMMECR1_domain,pfscan_AMMECR1_domain,tigrfam_AMMECR1 - no_errors AMMECR1L HGNC ENSG00000144233 30 0 0 46 6 11.5385 SMPD4 0 genome.wustl.edu 37 2 130931147 130931147 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 130931147 130931147 C T SNP SMPD4 ENST00000409031 human ensembl 74_37 -1 known missense c.326 p.C109Y 0.998 NULL NULL - no_errors SMPD4 HGNC ENSG00000136699 51 0 0 53 7 11.6667 TUBA3E 0 genome.wustl.edu 37 2 130951399 130951399 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 130951399 130951399 C T SNP TUBA3E ENST00000312988 human ensembl 74_37 -1 known missense c.1016 p.R339H 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin - no_errors TUBA3E HGNC ENSG00000152086 109 0 0 125 19 13.1944 TUBA3E 0 genome.wustl.edu 37 2 130951771 130951771 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 130951771 130951771 C T SNP TUBA3E ENST00000312988 human ensembl 74_37 -1 known missense c.644 p.R215H 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin,prints_Delta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin - no_errors TUBA3E HGNC ENSG00000152086 142 0 0 134 20 12.987 LOC150776 0 genome.wustl.edu 37 2 132275396 132275396 + RNA SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 132275396 132275396 T C SNP LOC150776 ENST00000438378 human ensembl 74_37 +1 known rna NULL NULL 0.837 - - - no_errors AC093838.4 Clone_based_vega_gene ENSG00000152117 26 0 0 29 3 9.375 NCKAP5 0 genome.wustl.edu 37 2 133540780 133540780 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 133540780 133540780 T C SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known missense c.3604 p.T1202A 0.000 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 33 0 0 64 9 12.3288 NCKAP5 0 genome.wustl.edu 37 2 133541060 133541060 + Silent SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 133541060 133541060 A G SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known silent c.3324 p.N1108 0.107 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 306 0 0 295 47 13.7427 NCKAP5 0 genome.wustl.edu 37 2 133542959 133542959 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 133542959 133542959 G A SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known silent c.1425 p.H475 0.001 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 90 0 0 89 16 15.2381 R3HDM1 0 genome.wustl.edu 37 2 136399316 136399316 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 136399316 136399316 C T SNP R3HDM1 ENST00000264160 human ensembl 74_37 +1 known missense c.1430 p.A477V 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors R3HDM1 HGNC ENSG00000048991 78 0 0 83 7 7.77778 LRP1B 0 genome.wustl.edu 37 2 141232708 141232708 + Missense_Mutation SNP T T G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 141232708 141232708 T G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.9624 p.K3208N 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 70 0 0 51 15 22.7273 ACVR2A 0 genome.wustl.edu 37 2 148684693 148684693 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 148684693 148684693 C T SNP ACVR2A ENST00000241416 human ensembl 74_37 +1 known silent c.1392 p.H464 0.870 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_TGFB_receptor pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2A HGNC ENSG00000121989 43 0 0 74 6 7.5 TPO 0 genome.wustl.edu 37 2 1491615 1491615 + Silent SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 1491615 1491615 A G SNP TPO ENST00000329066 human ensembl 74_37 +1 known silent c.1620 p.R540 0.795 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 53 0 0 51 7 12.069 MBD5 0 genome.wustl.edu 37 2 149216410 149216410 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 149216410 149216410 G A SNP MBD5 ENST00000407073 human ensembl 74_37 +1 known missense c.83 p.R28H 1.000 superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP_dom - no_errors MBD5 HGNC ENSG00000204406 121 0 0 124 18 12.6761 EVX2 0 genome.wustl.edu 37 2 176948411 176948411 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 176948411 176948411 C T SNP EVX2 ENST00000308618 human ensembl 74_37 -1 known missense c.94 p.A32T 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Antifreeze_1,prints_Homeobox_metazoa - no_errors EVX2 HGNC ENSG00000174279 100 1 0.990099 87 24 21.6216 HOXD3 0 genome.wustl.edu 37 2 177036309 177036309 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 177036309 177036309 G A SNP HOXD3 ENST00000249440 human ensembl 74_37 +1 known silent c.606 p.T202 0.389 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXD3 HGNC ENSG00000128652 64 0 0 55 5 8.33333 TTN 0 genome.wustl.edu 37 2 179419291 179419291 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 179419291 179419291 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.81079 p.T27027A 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 76 0 0 54 11 16.9231 TTN 0 genome.wustl.edu 37 2 179458930 179458930 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 179458930 179458930 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.50486 p.T16829M 0.493 pfam_Ig_I-set,superfamily_Calpain_domain_III,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 46 0 0 43 4 8.51064 TTN 0 genome.wustl.edu 37 2 179466064 179466064 + Nonsense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 179466064 179466064 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known nonsense c.47956 p.R15986* 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 47 0 0 49 9 15.5172 TTN 0 genome.wustl.edu 37 2 179500810 179500810 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 179500810 179500810 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.33784 p.V11262I 0.003 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 54 0 0 77 13 14.4444 TTN 0 genome.wustl.edu 37 2 179585805 179585805 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 179585805 179585805 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.19209 p.S6403 0.103 pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 69 0 0 80 10 11.1111 TTN 0 genome.wustl.edu 37 2 179586853 179586853 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 179586853 179586853 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.18805 p.K6269E 1.000 superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 175 0 0 161 23 12.5 NAB1 0 genome.wustl.edu 37 2 191554976 191554976 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 191554976 191554976 C A SNP NAB1 ENST00000337386 human ensembl 74_37 +1 known missense c.1381 p.L461I 1.000 pfam_Nab1_C pfam_Nab1_C,pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed - no_errors NAB1 HGNC ENSG00000138386 136 0 0 141 12 7.84314 SDPR 0 genome.wustl.edu 37 2 192700903 192700903 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 192700903 192700903 G A SNP SDPR ENST00000304141 human ensembl 74_37 -1 known missense c.1024 p.L342F 0.000 NULL NULL - no_errors SDPR HGNC ENSG00000168497 146 0 0 168 21 11.1111 PLCL1 0 genome.wustl.edu 37 2 198949135 198949135 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 198949135 198949135 G A SNP PLCL1 ENST00000428675 human ensembl 74_37 +1 known silent c.894 p.V298 0.992 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL1 HGNC ENSG00000115896 114 0 0 149 21 12.3529 CASP8 0 genome.wustl.edu 37 2 202131490 202131490 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 202131490 202131490 G A SNP CASP8 ENST00000358485 human ensembl 74_37 +1 known missense c.458 p.G153D 0.548 superfamily_DEATH-like_dom pfam_DED,pfam_Pept_C14_caspase,superfamily_DEATH-like_dom,smart_DED,smart_Pept_C14A_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP8 HGNC ENSG00000064012 37 0 0 52 4 7.14286 RAPH1 0 genome.wustl.edu 37 2 204320201 204320201 + Nonsense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 204320201 204320201 G A SNP RAPH1 ENST00000374493 human ensembl 74_37 -1 known nonsense c.1417 p.R473* 0.994 pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Ras-assoc,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,prints_Paxillin - no_errors RAPH1 HGNC ENSG00000173166 133 1 0.746269 172 22 11.3402 ABCA12 0 genome.wustl.edu 37 2 215855743 215855743 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 215855743 215855743 T C SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known missense c.3307 p.M1103V 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 62 0 0 71 8 10.1266 IGFBP5 0 genome.wustl.edu 37 2 217542917 217542917 + Missense_Mutation SNP T T G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 217542917 217542917 T G SNP IGFBP5 ENST00000233813 human ensembl 74_37 -1 known missense c.605 p.E202A 1.000 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata pfam_Thyroglobulin_1,pfam_IGFBP-like,superfamily_Thyroglobulin_1,superfamily_Growth_fac_rcpt_N_dom,smart_IGFBP-like,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata,prints_IGFBP-5 - no_errors IGFBP5 HGNC ENSG00000115461 84 0 0 94 16 14.5455 TNS1 0 genome.wustl.edu 37 2 218712867 218712867 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 218712867 218712867 C T SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known silent c.1998 p.Q666 1.000 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 22 0 0 34 3 8.10811 TNS1 0 genome.wustl.edu 37 2 218713028 218713028 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 218713028 218713028 G T SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known missense c.1837 p.P613T 0.995 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 89 0 0 122 10 7.57576 CXCR1 0 genome.wustl.edu 37 2 219029293 219029293 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 219029293 219029293 C T SNP CXCR1 ENST00000295683 human ensembl 74_37 -1 known silent c.642 p.P214 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR_1/2,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR1,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CXCR1 HGNC ENSG00000163464 112 0 0 113 15 11.7188 USP37 0 genome.wustl.edu 37 2 219339558 219339558 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 219339558 219339558 T C SNP USP37 ENST00000258399 human ensembl 74_37 -1 known silent c.2094 p.S698 0.667 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19/C67 - no_errors USP37 HGNC ENSG00000135913 31 0 0 45 7 13.4615 PRKAG3 0 genome.wustl.edu 37 2 219696472 219696472 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 219696472 219696472 C T SNP PRKAG3 ENST00000233944 human ensembl 74_37 -1 known missense c.22 p.A8T 0.000 NULL pfam_CBS_dom,smart_CBS_dom - no_errors PRKAG3 HGNC ENSG00000115592 16 0 0 16 2 11.1111 SPEG 0 genome.wustl.edu 37 2 220349218 220349218 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 220349218 220349218 C A SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel missense c.7033 p.L2345M 1.000 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors SPEG HGNC ENSG00000072195 15 0 0 22 5 18.5185 OBSL1 0 genome.wustl.edu 37 2 220419260 220419260 + Silent SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 220419260 220419260 G T SNP OBSL1 ENST00000404537 human ensembl 74_37 -1 known silent c.4812 p.A1604 0.011 smart_Ig_sub pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors OBSL1 HGNC ENSG00000124006 46 0 0 37 10 21.2766 SLC4A3 0 genome.wustl.edu 37 2 220504357 220504357 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 220504357 220504357 G A SNP SLC4A3 ENST00000273063 human ensembl 74_37 +1 known silent c.3258 p.A1086 0.672 pfam_HCO3_transpt_C,prints_Anion_exchange,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 65 0 0 60 9 13.0435 TRIP12 0 genome.wustl.edu 37 2 230654380 230654380 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 230654380 230654380 G T SNP TRIP12 ENST00000283943 human ensembl 74_37 -1 known missense c.4417 p.L1473I 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC ENSG00000153827 99 0 0 87 15 14.7059 SP110 0 genome.wustl.edu 37 2 231041383 231041383 + Nonstop_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 231041383 231041383 A G SNP SP110 ENST00000540870 human ensembl 74_37 -1 known nonstop c.1666 p.*556R 0.008 NULL pfam_Sp100,pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom - no_errors SP110 HGNC ENSG00000135899 74 0 0 71 15 17.4419 SH3YL1 0 genome.wustl.edu 37 2 231124 231124 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 231124 231124 C T SNP SH3YL1 ENST00000356150 human ensembl 74_37 -1 known missense c.601 p.E201K 0.973 pfam_Ysc84_actin-binding pfam_Ysc84_actin-binding,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors SH3YL1 HGNC ENSG00000035115 51 0 0 58 11 15.942 CHRND 0 genome.wustl.edu 37 2 233393579 233393579 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 233393579 233393579 A G SNP CHRND ENST00000258385 human ensembl 74_37 +1 known missense c.517 p.K173E 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRND HGNC ENSG00000135902 82 0 0 119 11 8.46154 SH3YL1 0 genome.wustl.edu 37 2 234203 234203 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 234203 234203 T C SNP SH3YL1 ENST00000356150 human ensembl 74_37 -1 known missense c.361 p.T121A 0.971 pfam_Ysc84_actin-binding pfam_Ysc84_actin-binding,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors SH3YL1 HGNC ENSG00000035115 154 0 0 148 14 8.64198 UGT1A5 0 genome.wustl.edu 37 2 234622039 234622039 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 234622039 234622039 T C SNP UGT1A5 ENST00000373414 human ensembl 74_37 +1 known silent c.402 p.N134 0.601 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A5 HGNC ENSG00000240224 188 0 0 237 40 14.4404 UGT1A4 0 genome.wustl.edu 37 2 234681161 234681161 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 234681161 234681161 A G SNP UGT1A4 ENST00000373409 human ensembl 74_37 +1 known missense c.1561 p.K521E 0.393 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A4 HGNC ENSG00000244474 45 0 0 49 7 12.5 GBX2 0 genome.wustl.edu 37 2 237074893 237074893 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 237074893 237074893 G A SNP GBX2 ENST00000306318 human ensembl 74_37 -1 known silent c.711 p.A237 0.003 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors GBX2 HGNC ENSG00000168505 79 0 0 63 12 16 IQCA1 0 genome.wustl.edu 37 2 237246962 237246962 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 237246962 237246962 G A SNP IQCA1 ENST00000409907 human ensembl 74_37 -1 known missense c.2020 p.R674W 0.951 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors IQCA1 HGNC ENSG00000132321 59 0 0 78 9 10.3448 PRR21 0 genome.wustl.edu 37 2 240982247 240982247 + Silent SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 240982247 240982247 A G SNP PRR21 ENST00000408934 human ensembl 74_37 -1 known silent c.153 p.H51 0.027 NULL NULL - no_errors PRR21 HGNC ENSG00000221961 22 0 0 20 6 23.0769 OR6B3 0 genome.wustl.edu 37 2 240985163 240985163 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 240985163 240985163 G A SNP OR6B3 ENST00000319423 human ensembl 74_37 -1 known silent c.327 p.C109 0.098 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 OR6B3 HGNC ENSG00000178586 25 0 0 31 5 13.8889 AGXT 0 genome.wustl.edu 37 2 241808357 241808357 + Silent SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 241808357 241808357 G T SNP AGXT ENST00000307503 human ensembl 74_37 +1 known silent c.75 p.L25 0.999 superfamily_PyrdxlP-dep_Trfase pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase - no_errors AGXT HGNC ENSG00000172482 66 0 0 56 9 13.8462 DNAJC27 0 genome.wustl.edu 37 2 25180758 25180758 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 25180758 25180758 G A SNP DNAJC27 ENST00000264711 human ensembl 74_37 -1 known missense c.326 p.A109V 0.550 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_DnaJ_domain,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,superfamily_DnaJ_domain,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_Small_GTPase,prints_DnaJ_domain,tigrfam_Small_GTP-bd_dom - no_errors DNAJC27 HGNC ENSG00000115137 88 0 0 88 14 13.7255 KHK 0 genome.wustl.edu 37 2 27322109 27322109 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 27322109 27322109 G A SNP KHK ENST00000260598 human ensembl 74_37 +1 known missense c.610 p.A204T 1.000 pfam_PfkB_dom pfam_PfkB_dom - no_errors KHK HGNC ENSG00000138030 146 0 0 159 17 9.65909 FOSL2 0 genome.wustl.edu 37 2 28627104 28627104 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 28627104 28627104 G A SNP FOSL2 ENST00000264716 human ensembl 74_37 +1 known missense c.233 p.R78H 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors FOSL2 HGNC ENSG00000075426 136 0 0 142 17 10.6918 FAM179A 0 genome.wustl.edu 37 2 29225501 29225501 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 29225501 29225501 C T SNP FAM179A ENST00000379558 human ensembl 74_37 +1 known missense c.527 p.P176L 1.000 NULL pfam_CLASP_N_dom,superfamily_ARM-type_fold - no_errors FAM179A HGNC ENSG00000189350 31 0 0 37 5 11.9048 YIPF4 0 genome.wustl.edu 37 2 32517418 32517418 + Splice_Site SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 32517418 32517418 G A SNP YIPF4 ENST00000238831 human ensembl 74_37 +1 known splice_site c.405+1 e3+1 1.000 - - - no_errors YIPF4 HGNC ENSG00000119820 55 0 0 56 6 9.67742 LTBP1 0 genome.wustl.edu 37 2 33487839 33487839 + Silent SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 33487839 33487839 C A SNP LTBP1 ENST00000354476 human ensembl 74_37 +1 known silent c.2469 p.P823 1.000 NULL 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 59 0 0 61 4 6.15385 FAM98A 0 genome.wustl.edu 37 2 33824291 33824291 + RNA SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 33824291 33824291 T C SNP FAM98A ENST00000498340 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors FAM98A HGNC ENSG00000119812 104 0 0 131 21 13.8158 HEATR5B 0 genome.wustl.edu 37 2 37310522 37310522 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 37310522 37310522 T C SNP HEATR5B ENST00000233099 human ensembl 74_37 -1 known silent c.36 p.E12 0.993 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5B HGNC ENSG00000008869 71 0 0 58 10 14.7059 THUMPD2 0 genome.wustl.edu 37 2 39988502 39988502 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 39988502 39988502 G A SNP THUMPD2 ENST00000505747 human ensembl 74_37 -1 known missense c.860 p.A287V 0.982 pfam_RNA_methylase_dom pfam_RNA_methylase_dom,pfam_Methyltransf_11,pfam_THUMP,pfam_Small_mtfrase_dom,pfam_UbiE/COQ5_MeTrFase,smart_THUMP,pfscan_THUMP - no_errors THUMPD2 HGNC ENSG00000138050 150 0 0 171 23 11.8557 SLC8A1 0 genome.wustl.edu 37 2 40656816 40656816 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 40656816 40656816 C T SNP SLC8A1 ENST00000332839 human ensembl 74_37 -1 known missense c.605 p.R202H 1.000 pfam_NaCa_Exmemb,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex - no_errors SLC8A1 HGNC ENSG00000183023 40 0 0 52 6 10.3448 EML4 0 genome.wustl.edu 37 2 42490379 42490379 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 42490379 42490379 C T SNP EML4 ENST00000318522 human ensembl 74_37 +1 known missense c.574 p.R192C 1.000 NULL pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML4 HGNC ENSG00000143924 38 0 0 34 14 29.1667 SRBD1 0 genome.wustl.edu 37 2 45826872 45826872 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 45826872 45826872 C T SNP SRBD1 ENST00000263736 human ensembl 74_37 -1 known missense c.364 p.A122T 0.163 NULL pfam_Tex-like_N,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SRBD1 HGNC ENSG00000068784 169 0 0 200 34 14.5299 PRKCE 0 genome.wustl.edu 37 2 46234620 46234620 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 46234620 46234620 C T SNP PRKCE ENST00000306156 human ensembl 74_37 +1 known silent c.1083 p.N361 1.000 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 PRKCE HGNC ENSG00000171132 78 0 0 71 17 19.3182 PRKCE 0 genome.wustl.edu 37 2 46378289 46378289 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 46378289 46378289 A G SNP PRKCE ENST00000306156 human ensembl 74_37 +1 known missense c.1841 p.D614G 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_Prot_kin_PKC_delta,pfscan_Prot_kinase_dom 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 PRKCE HGNC ENSG00000171132 48 0 0 36 6 14.2857 FOXN2 0 genome.wustl.edu 37 2 48602066 48602066 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 48602066 48602066 G T SNP FOXN2 ENST00000340553 human ensembl 74_37 +1 known missense c.780 p.K260N 0.998 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN2 HGNC ENSG00000170802 49 0 0 53 8 13.1148 MTIF2 0 genome.wustl.edu 37 2 55467153 55467153 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 55467153 55467153 G T SNP MTIF2 ENST00000263629 human ensembl 74_37 -1 known missense c.1864 p.P622T 0.013 superfamily_TIF_IF2_dom3,superfamily_Transl_B-barrel pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,superfamily_TIF_IF2_dom3,superfamily_Transl_B-barrel,tigrfam_Small_GTP-bd_dom - no_errors MTIF2 HGNC ENSG00000085760 29 0 0 23 6 20.6897 MTIF2 0 genome.wustl.edu 37 2 55470699 55470699 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 55470699 55470699 C T SNP MTIF2 ENST00000263629 human ensembl 74_37 -1 known missense c.1417 p.A473T 0.888 NULL pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,superfamily_TIF_IF2_dom3,superfamily_Transl_B-barrel,tigrfam_Small_GTP-bd_dom - no_errors MTIF2 HGNC ENSG00000085760 136 0 0 129 17 11.6438 TMEM18 0 genome.wustl.edu 37 2 669841 669841 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 669841 669841 C T SNP TMEM18 ENST00000281017 human ensembl 74_37 -1 known silent c.243 p.S81 0.304 NULL NULL - no_errors TMEM18 HGNC ENSG00000151353 24 0 0 21 5 19.2308 BMP10 0 genome.wustl.edu 37 2 69092787 69092787 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 69092787 69092787 G A SNP BMP10 ENST00000295379 human ensembl 74_37 -1 known silent c.1251 p.A417 0.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP10 HGNC ENSG00000163217 142 0 0 156 34 17.8947 ALMS1 0 genome.wustl.edu 37 2 73675218 73675218 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 73675218 73675218 G A SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known missense c.1561 p.A521T 0.004 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 67 0 0 79 15 15.9574 MOGS 0 genome.wustl.edu 37 2 74689115 74689115 + Nonsense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 74689115 74689115 G A SNP MOGS ENST00000233616 human ensembl 74_37 -1 known nonsense c.1801 p.R601* 0.989 pfam_Glycoside_hydrolase_63,superfamily_6-hairpin_glycosidase-like pfam_Glycoside_hydrolase_63,superfamily_6-hairpin_glycosidase-like - no_errors MOGS HGNC ENSG00000115275 102 0 0 112 10 8.19672 TLX2 0 genome.wustl.edu 37 2 74742968 74742968 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 74742968 74742968 G A SNP TLX2 ENST00000233638 human ensembl 74_37 +1 known silent c.609 p.T203 0.996 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors TLX2 HGNC ENSG00000115297 29 0 0 18 6 25 GCFC2 0 genome.wustl.edu 37 2 75929496 75929496 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 75929496 75929496 C T SNP GCFC2 ENST00000321027 human ensembl 74_37 -1 known missense c.448 p.A150T 1.000 NULL pfam_GCFC_dom - no_errors GCFC2 HGNC ENSG00000005436 59 0 0 61 12 16.4384 ITGB1BP1 0 genome.wustl.edu 37 2 9547005 9547005 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 9547005 9547005 T C SNP ITGB1BP1 ENST00000355346 human ensembl 74_37 -1 known silent c.561 p.L187 0.925 pfam_Integrin-bd_ICAP-1,smart_PTB/PI_dom pfam_Integrin-bd_ICAP-1,smart_PTB/PI_dom - no_errors ITGB1BP1 HGNC ENSG00000119185 86 0 0 64 11 14.6667 SNAP25 0 genome.wustl.edu 37 20 10280034 10280034 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 20 10280034 10280034 C T SNP SNAP25 ENST00000254976 human ensembl 74_37 +1 known missense c.526 p.R176C 1.000 pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom pfam_T_SNARE_dom,pfam_SNAP-25,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors SNAP25 HGNC ENSG00000132639 47 0 0 61 9 12.8571 SIRPG 0 genome.wustl.edu 37 20 1615967 1615967 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 20 1615967 1615967 G T SNP SIRPG ENST00000303415 human ensembl 74_37 -1 known missense c.1027 p.L343I 0.000 smart_Ig_sub pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors SIRPG HGNC ENSG00000089012 82 0 0 102 13 11.3043 XRN2 0 genome.wustl.edu 37 20 21328891 21328891 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 20 21328891 21328891 G A SNP XRN2 ENST00000377191 human ensembl 74_37 +1 known silent c.1773 p.P591 1.000 pirsf_5_3_exoribonuclease_2 pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2 - no_errors XRN2 HGNC ENSG00000088930 75 0 0 62 11 15.0685 NKX2-2 0 genome.wustl.edu 37 20 21494212 21494212 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 20 21494212 21494212 C T SNP NKX2-2 ENST00000377142 human ensembl 74_37 -1 known silent c.96 p.P32 0.949 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-2 HGNC ENSG00000125820 45 0 0 58 9 13.4328 APMAP 0 genome.wustl.edu 37 20 24944641 24944641 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 20 24944641 24944641 C T SNP APMAP ENST00000447138 human ensembl 74_37 -1 known missense c.866 p.R289Q 0.399 NULL pfam_Strictosidine_synth_cons-reg,pfam_SGL - no_errors APMAP HGNC ENSG00000101474 92 0 0 106 10 8.62069 ZNF341 0 genome.wustl.edu 37 20 32349702 32349702 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 20 32349702 32349702 T C SNP ZNF341 ENST00000375200 human ensembl 74_37 +1 known missense c.1063 p.C355R 0.998 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF341 HGNC ENSG00000131061 107 0 0 168 25 12.9534 NCOA6 0 genome.wustl.edu 37 20 33345657 33345657 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 20 33345657 33345657 C T SNP NCOA6 ENST00000359003 human ensembl 74_37 -1 known silent c.894 p.Q298 1.000 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 53 0 0 60 18 23.0769 GGT7 0 genome.wustl.edu 37 20 33450619 33450619 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 20 33450619 33450619 G A SNP GGT7 ENST00000336431 human ensembl 74_37 -1 novel silent c.555 p.G185 1.000 pfam_GGT_peptidase,prints_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGT7 HGNC ENSG00000131067 70 0 0 81 19 19 ACSS2 0 genome.wustl.edu 37 20 33509227 33509227 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 20 33509227 33509227 C T SNP ACSS2 ENST00000253382 human ensembl 74_37 +1 known missense c.1411 p.R471C 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSS2 HGNC ENSG00000131069 52 0 0 63 14 18.1818 GDF5 0 genome.wustl.edu 37 20 34025642 34025642 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 20 34025642 34025642 A G SNP GDF5 ENST00000374369 human ensembl 74_37 -1 known missense c.67 p.C23R 0.995 NULL pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF5 HGNC ENSG00000125965 44 0 0 45 7 13.4615 EPB41L1 0 genome.wustl.edu 37 20 34785881 34785881 + Missense_Mutation SNP A A T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 20 34785881 34785881 A T SNP EPB41L1 ENST00000338074 human ensembl 74_37 +1 known missense c.1586 p.D529V 1.000 pfam_SAB_dom,pirsf_Band_41_protein pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB_dom,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L1 HGNC ENSG00000088367 74 0 0 102 14 12.069 DLGAP4 0 genome.wustl.edu 37 20 35064573 35064573 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 20 35064573 35064573 C T SNP DLGAP4 ENST00000339266 human ensembl 74_37 +1 known missense c.1061 p.A354V 0.002 NULL pfam_GKAP - no_errors DLGAP4 HGNC ENSG00000080845 8 0 0 22 3 12 RBL1 0 genome.wustl.edu 37 20 35632262 35632262 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 20 35632262 35632262 G T SNP RBL1 ENST00000373664 human ensembl 74_37 -1 known missense c.2879 p.A960D 0.997 pfam_RB_C,superfamily_Cyclin-like pfam_RB_A,pfam_RB_B,pfam_RB_N,pfam_RB_C,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RBL1 HGNC ENSG00000080839 58 0 0 49 9 15.5172 ADAM33 0 genome.wustl.edu 37 20 3652954 3652954 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 20 3652954 3652954 C T SNP ADAM33 ENST00000356518 human ensembl 74_37 -1 known missense c.1424 p.C475Y 1.000 pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,prints_Blood-coag_inhib_Disintegrin pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM33 HGNC ENSG00000149451 88 0 0 94 14 12.963 TTI1 0 genome.wustl.edu 37 20 36612042 36612042 + Splice_Site SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 20 36612042 36612042 C T SNP TTI1 ENST00000373447 human ensembl 74_37 -1 known splice_site c.3087-1 e7-1 1.000 - - - no_errors TTI1 HGNC ENSG00000101407 21 0 0 40 3 6.97674 MAFB 0 genome.wustl.edu 37 20 39317104 39317104 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 20 39317104 39317104 G A SNP MAFB ENST00000373313 human ensembl 74_37 -1 known silent c.387 p.G129 1.000 NULL pfam_bZIP_Maf,pfam_Maf_TF_N,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors MAFB HGNC ENSG00000204103 21 0 0 22 8 26.6667 L3MBTL1 0 genome.wustl.edu 37 20 42161464 42161464 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 20 42161464 42161464 C T SNP L3MBTL1 ENST00000418998 human ensembl 74_37 +1 known missense c.1270 p.R424C 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_Znf_C2HC,superfamily_SAM/pointed,smart_Mbt,pfscan_Mbt - no_errors L3MBTL1 HGNC ENSG00000185513 195 0 0 208 49 19.0661 MYBL2 0 genome.wustl.edu 37 20 42328520 42328520 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 20 42328520 42328520 G A SNP MYBL2 ENST00000217026 human ensembl 74_37 +1 known missense c.787 p.A263T 0.000 NULL pfam_C-myb_C,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL2 HGNC ENSG00000101057 33 0 0 34 5 12.8205 KCNK15 0 genome.wustl.edu 37 20 43378878 43378878 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 20 43378878 43378878 G A SNP KCNK15 ENST00000372861 human ensembl 74_37 +1 known missense c.392 p.R131Q 1.000 pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_TASK5,prints_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl - no_errors KCNK15 HGNC ENSG00000124249 20 0 0 24 6 20 MATN4 0 genome.wustl.edu 37 20 43927136 43927136 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 20 43927136 43927136 A G SNP MATN4 ENST00000372754 human ensembl 74_37 -1 known missense c.1223 p.F408S 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_EGF-like_Ca-bd_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_VWF_A - no_errors MATN4 HGNC ENSG00000124159 73 0 0 83 28 25.2252 CDH22 0 genome.wustl.edu 37 20 44845508 44845508 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 20 44845508 44845508 G A SNP CDH22 ENST00000372262 human ensembl 74_37 -1 known silent c.795 p.I265 0.964 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_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 105 0 0 103 36 25.8993 DDX27 0 genome.wustl.edu 37 20 47850160 47850160 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 20 47850160 47850160 G A SNP DDX27 ENST00000371764 human ensembl 74_37 +1 known missense c.1280 p.S427N 1.000 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX27 HGNC ENSG00000124228 153 0 0 195 21 9.72222 ADNP 0 genome.wustl.edu 37 20 49508535 49508535 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 20 49508535 49508535 C T SNP ADNP ENST00000349014 human ensembl 74_37 -1 known missense c.2716 p.D906N 0.134 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 153 1 0.649351 170 29 14.5729 SALL4 0 genome.wustl.edu 37 20 50418891 50418891 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 20 50418891 50418891 G A SNP SALL4 ENST00000217086 human ensembl 74_37 -1 known silent c.57 p.G19 0.997 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 44 0 0 54 7 11.4754 CTCFL 0 genome.wustl.edu 37 20 56099127 56099127 + Missense_Mutation SNP A A C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 20 56099127 56099127 A C SNP CTCFL ENST00000423479 human ensembl 74_37 -1 known missense c.135 p.S45R 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCFL HGNC ENSG00000124092 232 0 0 256 85 24.9267 ZNF831 0 genome.wustl.edu 37 20 57768587 57768587 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 20 57768587 57768587 C A SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel missense c.2513 p.P838H 0.002 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 60 0 0 64 8 11.1111 LAMA5 0 genome.wustl.edu 37 20 60886128 60886128 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 20 60886128 60886128 G T SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.10111 p.L3371I 0.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,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 21 0 0 43 5 10.4167 CHRNA4 0 genome.wustl.edu 37 20 61981147 61981147 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 20 61981147 61981147 G A SNP CHRNA4 ENST00000370263 human ensembl 74_37 -1 known missense c.1616 p.S539L 0.001 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA4 HGNC ENSG00000101204 26 0 0 40 6 13.0435 SOX18 0 genome.wustl.edu 37 20 62679699 62679699 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 20 62679699 62679699 G A SNP SOX18 ENST00000340356 human ensembl 74_37 -1 known silent c.975 p.T325 0.963 pfam_Sox_C_TAD pfam_Sox_C_TAD,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX18 HGNC ENSG00000203883 8 0 0 10 3 23.0769 SAMSN1 0 genome.wustl.edu 37 21 15889305 15889305 + Nonsense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 21 15889305 15889305 C A SNP SAMSN1 ENST00000400566 human ensembl 74_37 -1 known nonsense c.187 p.G63* 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 SAMSN1 HGNC ENSG00000155307 25 0 0 18 6 25 ADAMTS1 0 genome.wustl.edu 37 21 28210316 28210316 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 21 28210316 28210316 C T SNP ADAMTS1 ENST00000284984 human ensembl 74_37 -1 known missense c.2486 p.G829D 1.000 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS1 HGNC ENSG00000154734 57 0 0 77 14 15.3846 TIAM1 0 genome.wustl.edu 37 21 32492843 32492843 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 21 32492843 32492843 C T SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known missense c.4619 p.R1540Q 0.935 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 76 0 0 85 11 11.4583 HUNK 0 genome.wustl.edu 37 21 33340634 33340634 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 21 33340634 33340634 C T SNP HUNK ENST00000270112 human ensembl 74_37 +1 known missense c.947 p.A316V 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,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HUNK HGNC ENSG00000142149 91 0 0 92 13 12.381 ETS2 0 genome.wustl.edu 37 21 40186743 40186743 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 21 40186743 40186743 C T SNP ETS2 ENST00000360214 human ensembl 74_37 +1 known missense c.343 p.L115F 1.000 pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,pirsf_Transform_prot_C-ets pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pirsf_Transform_prot_C-ets,pfscan_Ets_dom,prints_Ets_dom - no_errors ETS2 HGNC ENSG00000157557 119 0 0 133 9 6.33803 DSCAM 0 genome.wustl.edu 37 21 41385177 41385177 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 21 41385177 41385177 C T SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known silent c.5823 p.T1941 0.441 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 48 0 0 45 10 18.1818 DSCAM 0 genome.wustl.edu 37 21 41414420 41414420 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 21 41414420 41414420 G A SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known missense c.5564 p.T1855M 1.000 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 108 0 0 147 21 12.5 RIPK4 0 genome.wustl.edu 37 21 43161767 43161767 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 21 43161767 43161767 G A SNP RIPK4 ENST00000352483 human ensembl 74_37 -1 known missense c.1730 p.S577L 0.885 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK4 HGNC ENSG00000183421 47 0 0 66 22 25 ZBTB21 0 genome.wustl.edu 37 21 43412172 43412172 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 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 132 0 0 139 14 9.15033 TRPM2 0 genome.wustl.edu 37 21 45811232 45811232 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 21 45811232 45811232 C T SNP TRPM2 ENST00000300482 human ensembl 74_37 +1 known silent c.1518 p.N506 0.993 NULL pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 124 0 0 129 16 11.0345 KRTAP10-9 0 genome.wustl.edu 37 21 46047482 46047482 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 21 46047482 46047482 G A SNP KRTAP10-9 ENST00000397911 human ensembl 74_37 +1 known missense c.394 p.A132T 0.000 NULL NULL - no_errors KRTAP10-9 HGNC ENSG00000221837 178 0 0 221 26 10.5263 COL6A1 0 genome.wustl.edu 37 21 47401840 47401840 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 21 47401840 47401840 C A SNP COL6A1 ENST00000361866 human ensembl 74_37 +1 known missense c.76 p.P26T 0.000 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A1 HGNC ENSG00000142156 14 0 0 21 3 12.5 COL6A2 0 genome.wustl.edu 37 21 47531946 47531946 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 21 47531946 47531946 G A SNP COL6A2 ENST00000300527 human ensembl 74_37 +1 known missense c.169 p.V57I 0.995 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 75 0 0 84 18 17.6471 COL6A2 0 genome.wustl.edu 37 21 47549264 47549264 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 21 47549264 47549264 C T SNP COL6A2 ENST00000357838 human ensembl 74_37 +1 known silent c.2616 p.A872 0.989 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 96 0 0 120 20 14.2857 CECR6 0 genome.wustl.edu 37 22 17601107 17601107 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 22 17601107 17601107 G A SNP CECR6 ENST00000331437 human ensembl 74_37 -1 known missense c.911 p.A304V 0.010 NULL NULL - no_errors CECR6 HGNC ENSG00000183307 21 0 0 40 4 9.09091 TSSK2 0 genome.wustl.edu 37 22 19119328 19119328 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 22 19119328 19119328 G A SNP TSSK2 ENST00000399635 human ensembl 74_37 +1 known missense c.416 p.C139Y 0.987 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 TSSK2 HGNC ENSG00000206203 110 0 0 107 22 17.0543 HIRA 0 genome.wustl.edu 37 22 19340920 19340920 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 22 19340920 19340920 C T SNP HIRA ENST00000263208 human ensembl 74_37 -1 known missense c.2807 p.R936H 1.000 pfam_Hira pfam_Hira,pfam_WD40_repeat,pfam_HIRA_B_motif,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors HIRA HGNC ENSG00000100084 29 0 0 32 5 13.5135 CDC45 0 genome.wustl.edu 37 22 19492925 19492925 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 22 19492925 19492925 G A SNP CDC45 ENST00000437685 human ensembl 74_37 +1 known missense c.841 p.V281I 1.000 pfam_CDC45 pfam_CDC45 - no_errors CDC45 HGNC ENSG00000093009 39 0 0 42 7 14.2857 GNB1L 0 genome.wustl.edu 37 22 19808148 19808148 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 22 19808148 19808148 G A SNP GNB1L ENST00000329517 human ensembl 74_37 -1 known missense c.227 p.T76M 0.335 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GNB1L HGNC ENSG00000185838 64 0 0 59 13 18.0556 COMT 0 genome.wustl.edu 37 22 19956195 19956195 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 22 19956195 19956195 G T SNP COMT ENST00000361682 human ensembl 74_37 +1 known missense c.752 p.R251M 0.001 pirsf_Catechol_O-MeTrfase_euk pfam_O-MeTrfase_3,pirsf_Catechol_O-MeTrfase_euk - no_errors COMT HGNC ENSG00000093010 61 0 0 71 8 10.1266 ZDHHC8 0 genome.wustl.edu 37 22 20127121 20127121 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 22 20127121 20127121 G A SNP ZDHHC8 ENST00000405930 human ensembl 74_37 +1 known missense c.347 p.R116H 1.000 pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC8 HGNC ENSG00000099904 76 0 0 97 11 10.1852 MED15 0 genome.wustl.edu 37 22 20920849 20920849 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 22 20920849 20920849 G T SNP MED15 ENST00000263205 human ensembl 74_37 +1 known missense c.786 p.Q262H 1.000 pfam_Mediator_Med15_met pfam_Mediator_Med15_met - no_errors MED15 HGNC ENSG00000099917 65 0 0 64 17 20.9877 HIC2 0 genome.wustl.edu 37 22 21799216 21799216 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 22 21799216 21799216 G A SNP HIC2 ENST00000407464 human ensembl 74_37 +1 known missense c.32 p.C11Y 0.987 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 HIC2 HGNC ENSG00000169635 52 0 0 55 7 11.2903 SMARCB1 0 genome.wustl.edu 37 22 24167550 24167550 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 22 24167550 24167550 G A SNP SMARCB1 ENST00000263121 human ensembl 74_37 +1 known missense c.934 p.A312T 0.999 pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx - no_errors SMARCB1 HGNC ENSG00000099956 63 0 0 64 12 15.7895 ZNRF3 0 genome.wustl.edu 37 22 29440829 29440829 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 22 29440829 29440829 T C SNP ZNRF3 ENST00000544604 human ensembl 74_37 +1 known missense c.695 p.V232A 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF3 HGNC ENSG00000183579 63 0 0 69 8 10.3896 EMID1 0 genome.wustl.edu 37 22 29621187 29621187 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 22 29621187 29621187 C T SNP EMID1 ENST00000334018 human ensembl 74_37 +1 known missense c.385 p.R129W 0.219 NULL pfam_Collagen,pfam_EMI_domain,pfscan_EMI_domain - no_errors EMID1 HGNC ENSG00000186998 83 0 0 78 15 16.129 GAS2L1 0 genome.wustl.edu 37 22 29706822 29706822 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 22 29706822 29706822 C T SNP GAS2L1 ENST00000403764 human ensembl 74_37 +1 known missense c.844 p.R282C 0.988 superfamily_GAS2_dom pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L1 HGNC ENSG00000185340 169 0 0 200 25 11.1111 CCDC157 0 genome.wustl.edu 37 22 30766894 30766894 + Nonsense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 22 30766894 30766894 C T SNP CCDC157 ENST00000338306 human ensembl 74_37 +1 known nonsense c.1000 p.Q334* 0.955 superfamily_t-SNARE superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC157 HGNC ENSG00000187860 23 0 0 15 4 21.0526 SEC14L3 0 genome.wustl.edu 37 22 30857641 30857641 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 22 30857641 30857641 C T SNP SEC14L3 ENST00000215812 human ensembl 74_37 -1 known missense c.812 p.R271Q 1.000 superfamily_CRAL-TRIO_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran - no_errors SEC14L3 HGNC ENSG00000100012 22 0 0 22 4 15.3846 DUSP18 0 genome.wustl.edu 37 22 31059662 31059662 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 22 31059662 31059662 C T SNP DUSP18 ENST00000334679 human ensembl 74_37 -1 known missense c.329 p.R110H 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famB,prints_Atypical_DUSP - no_errors DUSP18 HGNC ENSG00000167065 39 0 0 45 10 18.1818 SFI1 0 genome.wustl.edu 37 22 32000924 32000924 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 22 32000924 32000924 C T SNP SFI1 ENST00000400288 human ensembl 74_37 +1 known silent c.2047 p.L683 1.000 superfamily_Cyclin-like superfamily_Cyclin-like - no_errors SFI1 HGNC ENSG00000198089 24 0 0 34 5 12.8205 SLC5A4 0 genome.wustl.edu 37 22 32628914 32628914 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 22 32628914 32628914 C T SNP SLC5A4 ENST00000266086 human ensembl 74_37 -1 known silent c.993 p.P331 0.354 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 SLC5A4 HGNC ENSG00000100191 72 0 0 81 11 11.9565 TOM1 0 genome.wustl.edu 37 22 35743188 35743188 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 22 35743188 35743188 C T SNP TOM1 ENST00000411850 human ensembl 74_37 +1 known silent c.1468 p.L490 0.986 pirsf_TOM1 pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1 HGNC ENSG00000100284 51 0 0 65 15 18.75 MYH9 0 genome.wustl.edu 37 22 36700098 36700098 + Missense_Mutation SNP T T G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 22 36700098 36700098 T G SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known missense c.2333 p.K778T 1.000 superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 56 0 0 65 8 10.9589 APOBEC3D 0 genome.wustl.edu 37 22 39418942 39418942 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 22 39418942 39418942 C T SNP APOBEC3D ENST00000216099 human ensembl 74_37 +1 known missense c.133 p.R45C 0.000 pfam_APOBEC_N pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3D HGNC ENSG00000243811 80 0 0 82 13 13.6842 MIEF1 0 genome.wustl.edu 37 22 39909948 39909948 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 22 39909948 39909948 C T SNP MIEF1 ENST00000325301 human ensembl 74_37 +1 known missense c.1012 p.R338W 1.000 NULL NULL - no_errors MIEF1 HGNC ENSG00000100335 145 0 0 140 17 10.828 SGSM3 0 genome.wustl.edu 37 22 40801789 40801789 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 22 40801789 40801789 G A SNP SGSM3 ENST00000248929 human ensembl 74_37 +1 known missense c.755 p.R252H 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_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_Rab-GTPase-TBC_dom,superfamily_SH3_domain,smart_Rab-GTPase-TBC_dom,smart_SH3_domain,smart_Run,pfscan_Run,pfscan_SH3_domain,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM3 HGNC ENSG00000100359 106 0 0 123 19 13.3803 RBX1 0 genome.wustl.edu 37 22 41360110 41360110 + Nonsense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 22 41360110 41360110 G T SNP RBX1 ENST00000216225 human ensembl 74_37 +1 known nonsense c.217 p.G73* 1.000 pfscan_Znf_RING pfscan_Znf_RING - no_errors RBX1 HGNC ENSG00000100387 47 0 0 36 5 12.1951 L3MBTL2 0 genome.wustl.edu 37 22 41625570 41625570 + Nonsense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 22 41625570 41625570 C T SNP L3MBTL2 ENST00000216237 human ensembl 74_37 +1 known nonsense c.1915 p.R639* 0.994 NULL pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS - no_errors L3MBTL2 HGNC ENSG00000100395 43 0 0 52 7 11.8644 PMM1 0 genome.wustl.edu 37 22 41982188 41982188 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 22 41982188 41982188 G A SNP PMM1 ENST00000216259 human ensembl 74_37 -1 known missense c.97 p.P33S 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIB pfam_PMM,pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIB - no_errors PMM1 HGNC ENSG00000100417 114 0 0 141 11 7.23684 SEPT3 0 genome.wustl.edu 37 22 42383721 42383721 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 22 42383721 42383721 G A SNP SEPT3 ENST00000396426 human ensembl 74_37 +1 known missense c.509 p.R170H 0.840 pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1,superfamily_P-loop_NTPase,pirsf_Septin,prints_Septin3 - no_errors SEPT3 HGNC ENSG00000100167 49 0 0 58 9 13.4328 PKDREJ 0 genome.wustl.edu 37 22 46657387 46657387 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 22 46657387 46657387 T C SNP PKDREJ ENST00000253255 human ensembl 74_37 -1 known silent c.1833 p.S611 0.001 pfam_PKD/REJ-like,pfscan_REJ-like pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,prints_PKD_2 - no_errors PKDREJ HGNC ENSG00000130943 89 0 0 83 22 20.9524 TTC38 0 genome.wustl.edu 37 22 46681140 46681140 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 22 46681140 46681140 C T SNP TTC38 ENST00000445282 human ensembl 74_37 +1 known silent c.624 p.G208 0.733 NULL NULL - no_errors TTC38 HGNC ENSG00000075234 60 0 0 55 7 11.2903 CELSR1 0 genome.wustl.edu 37 22 46773080 46773080 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 22 46773080 46773080 C T SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known missense c.7462 p.V2488I 0.981 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like 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 51 0 0 56 9 13.8462 BRD1 0 genome.wustl.edu 37 22 50217527 50217527 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 22 50217527 50217527 C T SNP BRD1 ENST00000216267 human ensembl 74_37 -1 known missense c.439 p.A147T 0.217 pfam_Enhancer_polycomb-like_N pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,prints_Bromodomain,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors BRD1 HGNC ENSG00000100425 103 0 0 101 13 11.4035 PLXNB2 0 genome.wustl.edu 37 22 50728599 50728599 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 22 50728599 50728599 C T SNP PLXNB2 ENST00000359337 human ensembl 74_37 -1 known missense c.415 p.G139R 0.993 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB2 HGNC ENSG00000196576 33 0 0 41 3 6.81818 DENND6B 0 genome.wustl.edu 37 22 50755772 50755772 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 22 50755772 50755772 A G SNP DENND6B ENST00000413817 human ensembl 74_37 -1 known missense c.403 p.Y135H 1.000 pfam_Afi1_N,pfam_ABL9/DENND6_dom pfam_Afi1_N,pfam_DENN_dom,pfam_ABL9/DENND6_dom - no_errors DENND6B HGNC ENSG00000205593 40 0 0 56 6 9.67742 MIOX 0 genome.wustl.edu 37 22 50928041 50928041 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 22 50928041 50928041 C T SNP MIOX ENST00000216075 human ensembl 74_37 +1 known silent c.717 p.D239 0.991 pfam_Inositol_oxygenase pfam_Inositol_oxygenase - no_errors MIOX HGNC ENSG00000100253 36 0 0 42 8 16 ATP6V1A 0 genome.wustl.edu 37 3 113503220 113503220 + Nonsense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 113503220 113503220 G T SNP ATP6V1A ENST00000273398 human ensembl 74_37 +1 known nonsense c.361 p.G121* 1.000 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 86 0 0 99 18 15.3846 KIAA1407 0 genome.wustl.edu 37 3 113761605 113761605 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 113761605 113761605 T C SNP KIAA1407 ENST00000295878 human ensembl 74_37 -1 known silent c.360 p.S120 0.000 NULL NULL - no_errors KIAA1407 HGNC ENSG00000163617 82 0 0 84 14 14.2857 DRD3 0 genome.wustl.edu 37 3 113866314 113866314 + Nonsense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 113866314 113866314 C T SNP DRD3 ENST00000383673 human ensembl 74_37 -1 known nonsense c.474 p.W158* 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D3_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt - no_errors DRD3 HGNC ENSG00000151577 106 0 0 94 14 12.963 STXBP5L 0 genome.wustl.edu 37 3 120976118 120976118 + Silent SNP T T G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 120976118 120976118 T G SNP STXBP5L ENST00000273666 human ensembl 74_37 +1 known silent c.1770 p.L590 0.999 superfamily_WD40_repeat_dom pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5L HGNC ENSG00000145087 91 0 0 93 13 12.2642 FBXO40 0 genome.wustl.edu 37 3 121345701 121345701 + Nonsense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 121345701 121345701 C T SNP FBXO40 ENST00000338040 human ensembl 74_37 +1 known nonsense c.2074 p.R692* 0.004 NULL superfamily_F-box_dom,superfamily_TRAF-like,pfscan_F-box_dom,pfscan_Znf_TRAF - no_errors FBXO40 HGNC ENSG00000163833 93 0 0 79 14 15.0538 ADCY5 0 genome.wustl.edu 37 3 123010154 123010154 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 123010154 123010154 G A SNP ADCY5 ENST00000462833 human ensembl 74_37 -1 known missense c.3133 p.P1045S 1.000 smart_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY5 HGNC ENSG00000173175 74 0 0 66 17 20.4819 MYLK 0 genome.wustl.edu 37 3 123356957 123356957 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 123356957 123356957 G A SNP MYLK ENST00000360304 human ensembl 74_37 -1 known missense c.4922 p.A1641V 0.999 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_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 38 0 0 48 10 17.2414 MCM2 0 genome.wustl.edu 37 3 127327751 127327751 + Missense_Mutation SNP T T A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 127327751 127327751 T A SNP MCM2 ENST00000265056 human ensembl 74_37 +1 known missense c.1313 p.V438D 1.000 superfamily_NA-bd_OB-fold,smart_MCM_DNA-dep_ATPase,prints_MCM2 pfam_MCM_DNA-dep_ATPase,pfam_MCM2,pfam_Mg_chelatse_chII,pfam_ATPase_AAA-3,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM2,prints_MCM_DNA-dep_ATPase - no_errors MCM2 HGNC ENSG00000073111 139 0 0 154 29 15.847 GP9 0 genome.wustl.edu 37 3 128780678 128780678 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 128780678 128780678 G T SNP GP9 ENST00000307395 human ensembl 74_37 +1 known missense c.96 p.M32I 1.000 pfam_LRR-contain_N,smart_LRR-contain_N pfam_LRR-contain_N,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C - no_errors GP9 HGNC ENSG00000169704 17 0 0 19 6 24 PLXND1 0 genome.wustl.edu 37 3 129324661 129324661 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 129324661 129324661 C T SNP PLXND1 ENST00000324093 human ensembl 74_37 -1 known silent c.822 p.Q274 1.000 superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXND1 HGNC ENSG00000004399 13 0 0 14 4 22.2222 COL6A6 0 genome.wustl.edu 37 3 130290188 130290188 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 130290188 130290188 G A SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known silent c.2928 p.K976 0.992 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 43 0 0 40 7 14.8936 PPP2R3A 0 genome.wustl.edu 37 3 135720391 135720391 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 135720391 135720391 C T SNP PPP2R3A ENST00000264977 human ensembl 74_37 +1 known silent c.51 p.S17 0.079 NULL pfscan_EF_hand_dom - no_errors PPP2R3A HGNC ENSG00000073711 143 0 0 154 19 10.9827 MSL2 0 genome.wustl.edu 37 3 135870603 135870603 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 135870603 135870603 C T SNP MSL2 ENST00000309993 human ensembl 74_37 -1 known missense c.1120 p.V374M 0.998 NULL pfscan_Znf_RING - no_errors MSL2 HGNC ENSG00000174579 65 0 0 72 15 17.2414 ACPL2 0 genome.wustl.edu 37 3 141011430 141011430 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 141011430 141011430 G A SNP ACPL2 ENST00000286353 human ensembl 74_37 +1 known missense c.826 p.G276R 0.990 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors ACPL2 HGNC ENSG00000155893 52 0 0 66 8 10.8108 PAQR9 0 genome.wustl.edu 37 3 142681687 142681687 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 142681687 142681687 G A SNP PAQR9 ENST00000340634 human ensembl 74_37 -1 known silent c.492 p.Y164 1.000 pfam_HlyIII-related pfam_HlyIII-related - no_errors PAQR9 HGNC ENSG00000188582 24 0 0 32 4 11.1111 ZIC1 0 genome.wustl.edu 37 3 147128165 147128165 + Missense_Mutation SNP A A C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 147128165 147128165 A C SNP ZIC1 ENST00000282928 human ensembl 74_37 +1 known missense c.266 p.Y89S 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC1 HGNC ENSG00000152977 37 0 0 41 7 14.5833 ZFYVE20 0 genome.wustl.edu 37 3 15115637 15115637 + Missense_Mutation SNP C C G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 15115637 15115637 C G SNP ZFYVE20 ENST00000253699 human ensembl 74_37 -1 known missense c.2007 p.E669D 0.000 NULL pfam_Rbsn,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors ZFYVE20 HGNC ENSG00000131381 185 0 0 201 25 11.0619 IGSF10 0 genome.wustl.edu 37 3 151165673 151165673 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 151165673 151165673 C T SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known missense c.2096 p.R699H 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 52 0 0 60 4 6.25 ZFYVE20 0 genome.wustl.edu 37 3 15127396 15127396 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 15127396 15127396 A G SNP ZFYVE20 ENST00000253699 human ensembl 74_37 -1 known missense c.362 p.V121A 1.000 NULL pfam_Rbsn,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors ZFYVE20 HGNC ENSG00000131381 198 0 0 245 36 12.8114 ENSG00000241770 0 genome.wustl.edu 37 3 156881410 156881410 + RNA SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 156881410 156881410 G A SNP ENSG00000241770 ENST00000480817 human ensembl 74_37 +1 known rna NULL NULL 0.885 - - - no_errors RP11-555M1.3 Clone_based_vega_gene ENSG00000241770 34 0 0 25 4 13.7931 RFTN1 0 genome.wustl.edu 37 3 16535299 16535299 + Silent SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 16535299 16535299 A G SNP RFTN1 ENST00000334133 human ensembl 74_37 -1 known silent c.78 p.P26 0.616 NULL NULL - no_errors RFTN1 HGNC ENSG00000131378 212 0 0 241 36 12.9964 SLC7A14 0 genome.wustl.edu 37 3 170244705 170244705 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 170244705 170244705 C T SNP SLC7A14 ENST00000231706 human ensembl 74_37 -1 known silent c.21 p.S7 0.062 NULL pfam_AA-permease/SLC12A_dom - no_errors SLC7A14 HGNC ENSG00000013293 21 0 0 23 7 23.3333 ZMAT3 0 genome.wustl.edu 37 3 178785312 178785312 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 178785312 178785312 C T SNP ZMAT3 ENST00000311417 human ensembl 74_37 -1 known missense c.229 p.V77I 1.000 pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT3 HGNC ENSG00000172667 111 0 0 148 17 10.303 PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 82 0 0 83 8 8.79121 CHRD 0 genome.wustl.edu 37 3 184104636 184104636 + Nonsense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 184104636 184104636 C T SNP CHRD ENST00000204604 human ensembl 74_37 +1 known nonsense c.2200 p.R734* 1.000 pfam_VWF_C,smart_VWF_C,pirsf_Chordin,pfscan_VWF_C pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C - no_errors CHRD HGNC ENSG00000090539 45 0 0 57 8 12.3077 IGF2BP2 0 genome.wustl.edu 37 3 185367313 185367313 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 185367313 185367313 G A SNP IGF2BP2 ENST00000382199 human ensembl 74_37 -1 known missense c.1471 p.R491W 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP2 HGNC ENSG00000073792 84 0 0 82 18 18 RTP1 0 genome.wustl.edu 37 3 186915332 186915332 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 186915332 186915332 G A SNP RTP1 ENST00000312295 human ensembl 74_37 +1 known missense c.29 p.R10H 1.000 NULL NULL - no_errors RTP1 HGNC ENSG00000175077 112 0 0 108 16 12.9032 CLDN1 0 genome.wustl.edu 37 3 190030735 190030735 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 190030735 190030735 A G SNP CLDN1 ENST00000295522 human ensembl 74_37 -1 known missense c.314 p.M105T 1.000 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin1 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin1,prints_Claudin14 - no_errors CLDN1 HGNC ENSG00000163347 216 1 0.460829 249 36 12.6316 KCNH8 0 genome.wustl.edu 37 3 19479672 19479672 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 19479672 19479672 G A SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known silent c.1194 p.L398 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 229 0 0 231 27 10.4651 MUC20 0 genome.wustl.edu 37 3 195453423 195453423 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 195453423 195453423 C T SNP MUC20 ENST00000447234 human ensembl 74_37 +1 known missense c.1949 p.P650L 0.000 NULL NULL - no_errors MUC20 HGNC ENSG00000176945 123 0 0 127 14 9.92908 RNF168 0 genome.wustl.edu 37 3 196198765 196198765 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 196198765 196198765 G A SNP RNF168 ENST00000318037 human ensembl 74_37 -1 known silent c.1641 p.S547 0.019 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF168 HGNC ENSG00000163961 158 0 0 154 34 18.0851 KAT2B 0 genome.wustl.edu 37 3 20181816 20181816 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 20181816 20181816 C T SNP KAT2B ENST00000263754 human ensembl 74_37 +1 known missense c.1964 p.P655L 1.000 pirsf_Hist_acetylase_PCAF pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom - no_errors KAT2B HGNC ENSG00000114166 50 0 0 73 6 7.59494 IL5RA 0 genome.wustl.edu 37 3 3139598 3139598 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 3139598 3139598 G T SNP IL5RA ENST00000256452 human ensembl 74_37 -1 known missense c.665 p.S222Y 0.000 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors IL5RA HGNC ENSG00000091181 46 0 0 49 11 18.3333 SCN5A 0 genome.wustl.edu 37 3 38601732 38601732 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 38601732 38601732 C T SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.4151 p.C1384Y 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 25 0 0 25 4 13.7931 CHL1 0 genome.wustl.edu 37 3 402043 402043 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 402043 402043 G A SNP CHL1 ENST00000256509 human ensembl 74_37 +1 known silent c.1242 p.V414 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 99 0 0 137 16 10.4575 CCR3 0 genome.wustl.edu 37 3 46307472 46307472 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 46307472 46307472 C T SNP CCR3 ENST00000545097 human ensembl 74_37 +1 known missense c.886 p.R296W 0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR1 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR3,prints_Chemokine_CCR1 - no_errors CCR3 HGNC ENSG00000183625 72 0 0 72 14 16.2791 MYL3 0 genome.wustl.edu 37 3 46902256 46902256 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 46902256 46902256 A G SNP MYL3 ENST00000292327 human ensembl 74_37 -1 known missense c.217 p.Y73H 0.995 NULL pfscan_EF_hand_dom - no_errors MYL3 HGNC ENSG00000160808 130 0 0 139 19 12.0253 NBEAL2 0 genome.wustl.edu 37 3 47037020 47037020 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 47037020 47037020 C T SNP NBEAL2 ENST00000450053 human ensembl 74_37 +1 known missense c.1795 p.P599S 1.000 superfamily_ConA-like_lec_gl_sf pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC ENSG00000160796 104 0 0 101 24 19.2 ELP6 0 genome.wustl.edu 37 3 47545907 47545907 + Nonsense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 47545907 47545907 C T SNP ELP6 ENST00000442215 human ensembl 74_37 -1 known nonsense c.165 p.W55* 1.000 NULL pfam_UPF0405 - no_errors ELP6 HGNC ENSG00000163832 61 0 0 61 5 7.57576 PFKFB4 0 genome.wustl.edu 37 3 48559432 48559432 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 48559432 48559432 C T SNP PFKFB4 ENST00000232375 human ensembl 74_37 -1 known missense c.1337 p.R446Q 1.000 pirsf_Bifunct_6PFK/fruc_bisP_Ptase pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB4 HGNC ENSG00000114268 62 0 0 70 10 12.5 COL7A1 0 genome.wustl.edu 37 3 48631879 48631879 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 48631879 48631879 C A SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known missense c.188 p.G63V 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A 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 67 0 0 69 7 9.21053 CELSR3 0 genome.wustl.edu 37 3 48698723 48698723 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 48698723 48698723 C A SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known missense c.1345 p.G449C 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 29 0 0 47 9 16.0714 NDUFAF3 0 genome.wustl.edu 37 3 49059586 49059586 + Silent SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 49059586 49059586 C A SNP NDUFAF3 ENST00000326925 human ensembl 74_37 +1 known silent c.9 p.T3 0.001 NULL pfam_NADH_Ub_cplx-1_asu_assmbl-fac3,superfamily_NADH_Ub_cplx-1_asu_assmbl-fac3 - no_errors NDUFAF3 HGNC ENSG00000178057 32 0 0 34 3 8.10811 USP19 0 genome.wustl.edu 37 3 49152674 49152674 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 49152674 49152674 G T SNP USP19 ENST00000398888 human ensembl 74_37 -1 known missense c.1700 p.P567H 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_MYND,pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom,pfscan_Znf_MYND,pfscan_Peptidase_C19/C67 - no_errors USP19 HGNC ENSG00000172046 23 0 0 40 6 13.0435 LAMB2 0 genome.wustl.edu 37 3 49160626 49160626 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 49160626 49160626 C T SNP LAMB2 ENST00000305544 human ensembl 74_37 -1 known missense c.4163 p.R1388Q 0.745 NULL pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 150 0 0 140 15 9.67742 GMPPB 0 genome.wustl.edu 37 3 49760036 49760036 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 49760036 49760036 C T SNP GMPPB ENST00000308375 human ensembl 74_37 -1 known missense c.554 p.R185H 1.000 pfam_NTP_transferase pfam_NTP_transferase,pfam_Hexapep_transf - no_errors GMPPB HGNC ENSG00000173540 31 0 0 33 5 13.1579 HYAL3 0 genome.wustl.edu 37 3 50330720 50330720 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 50330720 50330720 G A SNP HYAL3 ENST00000336307 human ensembl 74_37 -1 known missense c.1211 p.P404L 0.998 pirsf_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors HYAL3 HGNC ENSG00000186792 90 0 0 92 19 17.1171 HYAL1 0 genome.wustl.edu 37 3 50340041 50340041 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 50340041 50340041 G A SNP HYAL1 ENST00000266031 human ensembl 74_37 -1 known missense c.347 p.A116V 0.710 pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors HYAL1 HGNC ENSG00000114378 151 0 0 157 26 14.2077 DOCK3 0 genome.wustl.edu 37 3 51395471 51395471 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 51395471 51395471 T C SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known missense c.4847 p.I1616T 1.000 pfam_DOCK_C pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 65 0 0 68 14 17.0732 NISCH 0 genome.wustl.edu 37 3 52522247 52522247 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 52522247 52522247 G A SNP NISCH ENST00000345716 human ensembl 74_37 +1 known silent c.2739 p.T913 0.117 NULL pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors NISCH HGNC ENSG00000010322 79 0 0 78 14 15.2174 STAB1 0 genome.wustl.edu 37 3 52537421 52537421 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 52537421 52537421 G A SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known silent c.756 p.K252 0.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 45 0 0 48 6 11.1111 GNL3 0 genome.wustl.edu 37 3 52723070 52723070 + RNA SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 52723070 52723070 G A SNP GNL3 ENST00000468146 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GNL3 HGNC ENSG00000163938 117 0 0 136 18 11.6883 ACTR8 0 genome.wustl.edu 37 3 53911737 53911737 + Silent SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 53911737 53911737 A G SNP ACTR8 ENST00000335754 human ensembl 74_37 -1 known silent c.447 p.D149 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related - no_errors ACTR8 HGNC ENSG00000113812 38 0 0 58 8 12.1212 FAM208A 0 genome.wustl.edu 37 3 56667826 56667826 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 56667826 56667826 A G SNP FAM208A ENST00000355628 human ensembl 74_37 -1 known missense c.2810 p.V937A 0.983 NULL pfam_DUF3715 - no_errors FAM208A HGNC ENSG00000163946 42 0 0 49 8 14.0351 FLNB 0 genome.wustl.edu 37 3 58107205 58107205 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 58107205 58107205 C A SNP FLNB ENST00000295956 human ensembl 74_37 +1 known missense c.3101 p.A1034D 1.000 superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 147 0 0 172 21 10.8808 ACOX2 0 genome.wustl.edu 37 3 58512309 58512309 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 58512309 58512309 C A SNP ACOX2 ENST00000302819 human ensembl 74_37 -1 known missense c.1230 p.R410S 1.000 superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase - no_errors ACOX2 HGNC ENSG00000168306 49 0 0 59 8 11.9403 FEZF2 0 genome.wustl.edu 37 3 62357249 62357249 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 62357249 62357249 G T SNP FEZF2 ENST00000283268 human ensembl 74_37 -1 known missense c.946 p.Q316K 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FEZF2 HGNC ENSG00000153266 59 0 0 84 15 15.1515 CNTN3 0 genome.wustl.edu 37 3 74474046 74474046 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 74474046 74474046 C T SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known missense c.404 p.R135H 1.000 pfam_Ig_V-set,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 CNTN3 HGNC ENSG00000113805 31 0 0 35 4 10.2564 ROBO1 0 genome.wustl.edu 37 3 78655965 78655965 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 78655965 78655965 C A SNP ROBO1 ENST00000464233 human ensembl 74_37 -1 known missense c.4662 p.Q1554H 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO1 HGNC ENSG00000169855 492 1 0.20284 456 89 16.3303 PROS1 0 genome.wustl.edu 37 3 93605341 93605341 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 93605341 93605341 C T SNP PROS1 ENST00000394236 human ensembl 74_37 -1 known missense c.1162 p.V388M 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors PROS1 HGNC ENSG00000184500 90 0 0 101 11 9.82143 ADH5 0 genome.wustl.edu 37 4 100003128 100003128 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 100003128 100003128 G A SNP ADH5 ENST00000296412 human ensembl 74_37 -1 known missense c.254 p.A85V 0.999 pfam_ADH_GroES-like,superfamily_GroES-like,tigrfam_ADH_3 pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,tigrfam_ADH_3 - no_errors ADH5 HGNC ENSG00000197894 42 0 0 31 4 11.4286 BBS12 0 genome.wustl.edu 37 4 123664512 123664512 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 123664512 123664512 G A SNP BBS12 ENST00000314218 human ensembl 74_37 +1 known missense c.1465 p.A489T 0.003 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom - no_errors BBS12 HGNC ENSG00000181004 75 0 0 82 9 9.89011 FAT4 0 genome.wustl.edu 37 4 126241924 126241924 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 126241924 126241924 G A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.4358 p.G1453D 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 117 0 0 142 16 10.1266 FAT4 0 genome.wustl.edu 37 4 126370814 126370814 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 126370814 126370814 C T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known silent c.8643 p.C2881 0.998 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 115 0 0 124 23 15.6463 PLK4 0 genome.wustl.edu 37 4 128808580 128808580 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 128808580 128808580 C T SNP PLK4 ENST00000270861 human ensembl 74_37 +1 known missense c.1388 p.P463L 0.142 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK4 HGNC ENSG00000142731 26 0 0 11 4 26.6667 PHF17 0 genome.wustl.edu 37 4 129773269 129773269 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 129773269 129773269 G A SNP PHF17 ENST00000226319 human ensembl 74_37 +1 known missense c.542 p.R181Q 0.997 NULL pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF17 HGNC ENSG00000077684 76 0 0 87 5 5.43478 PCDH10 0 genome.wustl.edu 37 4 134072703 134072703 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 134072703 134072703 G A SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.1408 p.V470M 1.000 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 PCDH10 HGNC ENSG00000138650 134 0 0 166 21 11.2299 UVSSA 0 genome.wustl.edu 37 4 1345607 1345607 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 1345607 1345607 G A SNP UVSSA ENST00000389851 human ensembl 74_37 +1 known silent c.534 p.A178 0.000 NULL pfam_DUF2043,superfamily_ENTH_VHS - no_errors UVSSA HGNC ENSG00000163945 82 0 0 76 12 13.6364 SLC10A7 0 genome.wustl.edu 37 4 147363969 147363969 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 147363969 147363969 G A SNP SLC10A7 ENST00000394062 human ensembl 74_37 -1 known missense c.401 p.A134V 1.000 pfam_BilAc/Na_symport,pirsf_Put_Na-Bile_cotransptr pfam_BilAc/Na_symport,pirsf_Put_Na-Bile_cotransptr - no_errors SLC10A7 HGNC ENSG00000120519 30 0 0 25 4 13.7931 NR3C2 0 genome.wustl.edu 37 4 149357499 149357499 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 149357499 149357499 C T SNP NR3C2 ENST00000355292 human ensembl 74_37 -1 known missense c.514 p.V172M 0.380 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_Znf_hrmn_rcpt - no_errors NR3C2 HGNC ENSG00000151623 136 0 0 136 15 9.93377 FGA 0 genome.wustl.edu 37 4 155505317 155505317 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 155505317 155505317 T C SNP FGA ENST00000302053 human ensembl 74_37 -1 known missense c.2560 p.R854G 0.956 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,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FGA HGNC ENSG00000171560 131 1 0.757576 111 11 9.01639 GRIA2 0 genome.wustl.edu 37 4 158281222 158281222 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 158281222 158281222 G A SNP GRIA2 ENST00000264426 human ensembl 74_37 +1 known missense c.2218 p.D740N 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_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 61 0 0 83 10 10.7527 TMEM144 0 genome.wustl.edu 37 4 159140505 159140505 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 159140505 159140505 C T SNP TMEM144 ENST00000296529 human ensembl 74_37 +1 known silent c.376 p.L126 0.000 pfam_DUF1632_TMEM144 pfam_DUF1632_TMEM144,pfam_Sugar_transport - no_errors TMEM144 HGNC ENSG00000164124 124 0 0 115 17 12.8788 TKTL2 0 genome.wustl.edu 37 4 164394290 164394290 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 164394290 164394290 G A SNP TKTL2 ENST00000280605 human ensembl 74_37 -1 known silent c.597 p.G199 0.856 pfam_Transketolase_N,pfam_DH_E1 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 TKTL2 HGNC ENSG00000151005 77 0 0 76 13 14.6067 TLL1 0 genome.wustl.edu 37 4 166915567 166915567 + Silent SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 166915567 166915567 A G SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known silent c.396 p.V132 0.030 pirsf_BMP_1/tolloid-like pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 59 0 0 46 7 13.2075 GALNTL6 0 genome.wustl.edu 37 4 172735857 172735857 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 172735857 172735857 C T SNP GALNTL6 ENST00000506823 human ensembl 74_37 +1 known silent c.126 p.P42 0.283 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNTL6 HGNC ENSG00000174473 40 0 0 48 6 11.1111 NCAPG 0 genome.wustl.edu 37 4 17827008 17827008 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 17827008 17827008 G A SNP NCAPG ENST00000251496 human ensembl 74_37 +1 known missense c.1477 p.A493T 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors NCAPG HGNC ENSG00000109805 48 0 0 52 8 13.3333 LETM1 0 genome.wustl.edu 37 4 1843476 1843476 + Silent SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 1843476 1843476 G T SNP LETM1 ENST00000302787 human ensembl 74_37 -1 known silent c.192 p.S64 0.010 NULL pfam_LETM1,pfscan_EF_hand_dom - no_errors LETM1 HGNC ENSG00000168924 34 0 0 39 5 11.3636 KLKB1 0 genome.wustl.edu 37 4 187155141 187155141 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 187155141 187155141 C T SNP KLKB1 ENST00000264690 human ensembl 74_37 +1 known missense c.257 p.T86I 0.004 pfam_PAN-1_domain,smart_Apple,pfscan_Pan_app 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 KLKB1 HGNC ENSG00000164344 81 0 0 94 11 10.4762 MTNR1A 0 genome.wustl.edu 37 4 187455439 187455439 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 187455439 187455439 G A SNP MTNR1A ENST00000307161 human ensembl 74_37 -1 known missense c.457 p.L153F 0.007 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn,prints_Mel_1A_rcpt,prints_NPY_rcpt,prints_Mel_rcpt_1C - no_errors MTNR1A HGNC ENSG00000168412 75 0 0 62 10 13.8889 FAT1 0 genome.wustl.edu 37 4 187530381 187530381 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 187530381 187530381 C T SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.10162 p.V3388I 0.001 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 52 0 0 51 11 17.7419 FAT1 0 genome.wustl.edu 37 4 187557246 187557246 + Silent SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 187557246 187557246 G T SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known silent c.4116 p.P1372 0.258 superfamily_Cadherin-like,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 39 0 0 45 11 19.6429 FAT1 0 genome.wustl.edu 37 4 187557926 187557926 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 187557926 187557926 C T SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.3785 p.R1262Q 0.930 superfamily_Cadherin-like,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 241 0 0 267 29 9.7973 FRG1 0 genome.wustl.edu 37 4 190874259 190874259 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 190874259 190874259 C T SNP FRG1 ENST00000226798 human ensembl 74_37 +1 known missense c.296 p.A99V 1.000 pfam_FRG1,pfam_Fascin-domain,superfamily_Actin_cross-linking pfam_FRG1,pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FRG1 HGNC ENSG00000109536 31 0 0 45 4 8.16327 PPARGC1A 0 genome.wustl.edu 37 4 23830112 23830112 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 23830112 23830112 G A SNP PPARGC1A ENST00000264867 human ensembl 74_37 -1 known missense c.668 p.T223I 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1A HGNC ENSG00000109819 146 0 0 156 33 17.4603 LGI2 0 genome.wustl.edu 37 4 25020788 25020788 + Splice_Site SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 25020788 25020788 C T SNP LGI2 ENST00000382114 human ensembl 74_37 -1 known splice_site c.485+1 e5+1 1.000 - - - no_errors LGI2 HGNC ENSG00000153012 61 0 0 81 12 12.9032 SLC34A2 0 genome.wustl.edu 37 4 25677886 25677886 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 25677886 25677886 G A SNP SLC34A2 ENST00000382051 human ensembl 74_37 +1 known missense c.1588 p.V530I 0.083 tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,superfamily_ABC1_TM_dom,tigrfam_Na/Pi_transpt - no_errors SLC34A2 HGNC ENSG00000157765 140 0 0 167 25 13.0208 PCDH7 0 genome.wustl.edu 37 4 30724462 30724462 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 30724462 30724462 C T SNP PCDH7 ENST00000543491 human ensembl 74_37 +1 known missense c.1418 p.A473V 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH7 HGNC ENSG00000169851 59 0 0 59 11 15.7143 RGS12 0 genome.wustl.edu 37 4 3424244 3424244 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 3424244 3424244 C T SNP RGS12 ENST00000344733 human ensembl 74_37 +1 known missense c.2980 p.R994W 1.000 pfam_Raf-like_ras-bd,smart_Raf-like_ras-bd,pfscan_Raf-like_ras-bd 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 53 0 0 51 12 19.0476 LIMCH1 0 genome.wustl.edu 37 4 41621327 41621327 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 41621327 41621327 T C SNP LIMCH1 ENST00000503057 human ensembl 74_37 +1 known missense c.328 p.Y110H 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMCH1 HGNC ENSG00000064042 143 0 0 163 22 11.8919 RASL11B 0 genome.wustl.edu 37 4 53728795 53728795 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 53728795 53728795 G A SNP RASL11B ENST00000248706 human ensembl 74_37 +1 known missense c.121 p.A41T 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,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 RASL11B HGNC ENSG00000128045 21 0 0 29 11 27.5 EVC2 0 genome.wustl.edu 37 4 5667369 5667369 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 5667369 5667369 G T SNP EVC2 ENST00000344408 human ensembl 74_37 -1 known missense c.878 p.P293Q 0.235 pfam_Limbin pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 33 0 0 36 5 12.1951 SRP72 0 genome.wustl.edu 37 4 57356562 57356562 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 57356562 57356562 C T SNP SRP72 ENST00000342756 human ensembl 74_37 +1 known missense c.1384 p.R462W 0.980 smart_TPR_repeat 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 51 0 0 52 6 10.3448 LPHN3 0 genome.wustl.edu 37 4 62453016 62453016 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 62453016 62453016 C A SNP LPHN3 ENST00000507625 human ensembl 74_37 +1 known missense c.331 p.L111I 1.000 pfam_Lectin_gal-bd_dom,pfscan_Lectin_gal-bd_dom pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 21 0 0 21 3 12.5 TECRL 0 genome.wustl.edu 37 4 65194268 65194268 + Missense_Mutation SNP T T G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 65194268 65194268 T G SNP TECRL ENST00000381210 human ensembl 74_37 -1 known missense c.293 p.K98T 1.000 NULL pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C - no_errors TECRL HGNC ENSG00000205678 75 0 0 91 13 12.5 AFP 0 genome.wustl.edu 37 4 74308075 74308075 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 74308075 74308075 C T SNP AFP ENST00000395792 human ensembl 74_37 +1 known missense c.545 p.A182V 0.386 pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin/AFP pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin/AFP,prints_Alpha-fetoprotein,prints_ALB/AFP/VDB - no_errors AFP HGNC ENSG00000081051 42 0 0 42 10 19.2308 PRDM8 0 genome.wustl.edu 37 4 81123123 81123123 + Silent SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 81123123 81123123 C A SNP PRDM8 ENST00000339711 human ensembl 74_37 +1 known silent c.507 p.P169 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PRDM8 HGNC ENSG00000152784 146 0 0 198 26 11.6071 HNRNPD 0 genome.wustl.edu 37 4 83278029 83278029 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 83278029 83278029 A G SNP HNRNPD ENST00000313899 human ensembl 74_37 -1 known missense c.773 p.M258T 1.000 pfscan_RRM_dom pfam_RRM_dom,pfam_CARG-binding_factor_N,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPD HGNC ENSG00000138668 248 0 0 262 33 11.1864 TRMT44 0 genome.wustl.edu 37 4 8465746 8465746 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 8465746 8465746 T C SNP TRMT44 ENST00000389737 human ensembl 74_37 +1 known missense c.1238 p.F413S 1.000 NULL pfam_tRNA_uracil_MeTrfase - no_errors TRMT44 HGNC ENSG00000155275 104 0 0 123 18 12.766 HSD17B11 0 genome.wustl.edu 37 4 88312256 88312256 + RNA SNP T T G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 88312256 88312256 T G SNP HSD17B11 ENST00000508413 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors HSD17B11 HGNC ENSG00000198189 17 0 0 8 5 38.4615 DMP1 0 genome.wustl.edu 37 4 88583745 88583745 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 88583745 88583745 G A SNP DMP1 ENST00000339673 human ensembl 74_37 +1 known missense c.815 p.R272H 0.001 pfam_DMP1 pfam_DMP1 - no_errors DMP1 HGNC ENSG00000152592 27 0 0 40 9 18.3673 SMARCAD1 0 genome.wustl.edu 37 4 95185970 95185970 + Missense_Mutation SNP T T A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 95185970 95185970 T A SNP SMARCAD1 ENST00000359052 human ensembl 74_37 +1 known missense c.1394 p.I465N 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAD1 HGNC ENSG00000163104 62 0 0 84 9 9.67742 DGKQ 0 genome.wustl.edu 37 4 955358 955358 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 955358 955358 G A SNP DGKQ ENST00000273814 human ensembl 74_37 -1 known missense c.2471 p.S824L 0.999 pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ras-assoc,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ras-assoc,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKQ HGNC ENSG00000145214 14 0 0 19 4 17.3913 ST8SIA4 0 genome.wustl.edu 37 5 100191819 100191819 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 100191819 100191819 T C SNP ST8SIA4 ENST00000231461 human ensembl 74_37 -1 known missense c.785 p.H262R 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA4 HGNC ENSG00000113532 63 0 0 77 8 9.41176 ST8SIA4 0 genome.wustl.edu 37 5 100238656 100238656 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 100238656 100238656 G A SNP ST8SIA4 ENST00000231461 human ensembl 74_37 -1 known missense c.4 p.R2C 1.000 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA4 HGNC ENSG00000113532 45 0 0 48 11 18.6441 KCNN2 0 genome.wustl.edu 37 5 113822861 113822861 + Nonsense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 113822861 113822861 C T SNP KCNN2 ENST00000264773 human ensembl 74_37 +1 known nonsense c.1369 p.Q457* 1.000 pfam_CaM-bd_dom,superfamily_CaM-bd_dom pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN2 HGNC ENSG00000080709 69 0 0 44 8 15.3846 ADAMTS19 0 genome.wustl.edu 37 5 129070659 129070659 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 129070659 129070659 G A SNP ADAMTS19 ENST00000274487 human ensembl 74_37 +1 known missense c.3329 p.R1110H 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 73 0 0 91 11 10.7843 GDF9 0 genome.wustl.edu 37 5 132198189 132198189 + Missense_Mutation SNP A A C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 132198189 132198189 A C SNP GDF9 ENST00000296875 human ensembl 74_37 -1 known missense c.457 p.L153V 0.992 NULL pfam_TGF-b_C,smart_TGF-b_C - no_errors GDF9 HGNC ENSG00000164404 65 0 0 94 16 14.5455 C5orf15 0 genome.wustl.edu 37 5 133295584 133295584 + Silent SNP A A T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 133295584 133295584 A T SNP C5orf15 ENST00000231512 human ensembl 74_37 -1 known silent c.267 p.P89 0.001 NULL NULL - no_errors C5orf15 HGNC ENSG00000113583 29 0 0 32 7 17.9487 CAMLG 0 genome.wustl.edu 37 5 134077026 134077026 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 134077026 134077026 G A SNP CAMLG ENST00000297156 human ensembl 74_37 +1 known missense c.446 p.R149H 0.992 pirsf_Ca_signal-mod_cyclophilin_lig pirsf_Ca_signal-mod_cyclophilin_lig - no_errors CAMLG HGNC ENSG00000164615 89 0 0 78 17 17.8947 SPOCK1 0 genome.wustl.edu 37 5 136834106 136834106 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 136834106 136834106 C T SNP SPOCK1 ENST00000282223 human ensembl 74_37 -1 known missense c.142 p.V48I 1.000 NULL pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SPOCK1 HGNC ENSG00000152377 28 0 0 32 3 8.57143 SLC4A9 0 genome.wustl.edu 37 5 139747324 139747324 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 139747324 139747324 T C SNP SLC4A9 ENST00000230993 human ensembl 74_37 +1 known missense c.2267 p.L756P 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A9 HGNC ENSG00000113073 40 0 0 46 4 8 ANKHD1 0 genome.wustl.edu 37 5 139887548 139887548 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 139887548 139887548 C A SNP ANKHD1 ENST00000297183 human ensembl 74_37 +1 known missense c.3730 p.L1244M 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKHD1 HGNC ENSG00000131503 71 0 0 75 8 9.63855 PCDHA3 0 genome.wustl.edu 37 5 140182444 140182444 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 140182444 140182444 C T SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known silent c.1662 p.F554 0.981 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 PCDHA3 HGNC ENSG00000255408 138 0 0 197 25 11.2613 PCDHA4 0 genome.wustl.edu 37 5 140188279 140188279 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 140188279 140188279 G T SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known missense c.1507 p.A503S 0.006 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 PCDHA4 HGNC ENSG00000204967 93 0 0 94 16 14.5455 PCDHA4 0 genome.wustl.edu 37 5 140188305 140188305 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 140188305 140188305 T C SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known silent c.1533 p.H511 0.993 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 PCDHA4 HGNC ENSG00000204967 126 0 0 135 21 13.4615 PCDHA4 0 genome.wustl.edu 37 5 140188306 140188306 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 140188306 140188306 G A SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known missense c.1534 p.A512T 0.958 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 PCDHA4 HGNC ENSG00000204967 127 0 0 137 21 13.2911 PCDHA8 0 genome.wustl.edu 37 5 140223103 140223103 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 140223103 140223103 C T SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known missense c.2197 p.R733W 0.743 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 75 0 0 77 11 12.5 PCDHA12 0 genome.wustl.edu 37 5 140255709 140255709 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 140255709 140255709 G A SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known missense c.652 p.G218S 1.000 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 PCDHA12 HGNC ENSG00000251664 69 0 0 50 11 18.0328 PCDHAC2 0 genome.wustl.edu 37 5 140389267 140389267 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 140389267 140389267 C A SNP PCDHAC2 ENST00000289269 human ensembl 74_37 +1 known missense c.2769 p.S923R 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC2 HGNC ENSG00000243232 120 0 0 122 17 12.2302 PCDHB12 0 genome.wustl.edu 37 5 140589598 140589598 + Missense_Mutation SNP A A C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 140589598 140589598 A C SNP PCDHB12 ENST00000239450 human ensembl 74_37 +1 known missense c.1119 p.R373S 0.013 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC ENSG00000120328 77 0 0 68 10 12.8205 PCDHB13 0 genome.wustl.edu 37 5 140594909 140594909 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 140594909 140594909 C T SNP PCDHB13 ENST00000341948 human ensembl 74_37 +1 known missense c.1214 p.T405M 0.034 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 PCDHB13 HGNC ENSG00000187372 72 0 0 58 10 14.7059 PCDHGA7 0 genome.wustl.edu 37 5 140764513 140764513 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 140764513 140764513 G A SNP PCDHGA7 ENST00000518325 human ensembl 74_37 +1 known missense c.2047 p.G683S 0.157 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA7 HGNC ENSG00000253537 75 0 0 76 7 8.43373 PCDHGA7 0 genome.wustl.edu 37 5 140764701 140764701 + Silent SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 140764701 140764701 G T SNP PCDHGA7 ENST00000518325 human ensembl 74_37 +1 known silent c.2235 p.G745 0.704 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA7 HGNC ENSG00000253537 88 0 0 98 19 16.2393 PCDHGA9 0 genome.wustl.edu 37 5 140784497 140784497 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 140784497 140784497 C T SNP PCDHGA9 ENST00000573521 human ensembl 74_37 +1 known missense c.1978 p.L660F 0.687 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 PCDHGA9 HGNC ENSG00000261934 77 0 0 83 9 9.78261 PCDHGA11 0 genome.wustl.edu 37 5 140802769 140802769 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 140802769 140802769 G A SNP PCDHGA11 ENST00000398587 human ensembl 74_37 +1 known missense c.1975 p.V659I 0.884 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 PCDHGA11 HGNC ENSG00000253873 67 0 0 89 14 13.5922 ARAP3 0 genome.wustl.edu 37 5 141050954 141050954 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 141050954 141050954 G T SNP ARAP3 ENST00000239440 human ensembl 74_37 -1 known missense c.1868 p.A623D 1.000 NULL pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP3 HGNC ENSG00000120318 56 0 0 77 13 14.4444 SH3RF2 0 genome.wustl.edu 37 5 145439617 145439617 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 145439617 145439617 C A SNP SH3RF2 ENST00000359120 human ensembl 74_37 +1 known missense c.1744 p.L582I 0.084 NULL pfam_SH3_2,pfam_SH3_domain,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_SH3_domain - no_errors SH3RF2 HGNC ENSG00000156463 65 0 0 81 15 15.625 FAM105B 0 genome.wustl.edu 37 5 14693056 14693056 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 14693056 14693056 C T SNP FAM105B ENST00000284274 human ensembl 74_37 +1 known missense c.958 p.P320S 1.000 prints_FAM105,prints_FAM105A prints_FAM105,prints_FAM105B,prints_FAM105A - no_errors FAM105B HGNC ENSG00000154124 75 0 0 69 6 8 SH3TC2 0 genome.wustl.edu 37 5 148386498 148386498 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 148386498 148386498 C T SNP SH3TC2 ENST00000515425 human ensembl 74_37 -1 known silent c.3621 p.L1207 0.994 NULL pfam_SH3_domain,pfam_TPR_1,superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC2 HGNC ENSG00000169247 114 0 0 131 23 14.9351 CAMK2A 0 genome.wustl.edu 37 5 149602570 149602570 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 149602570 149602570 G A SNP CAMK2A ENST00000398376 human ensembl 74_37 -1 known missense c.1448 p.A483V 1.000 pfam_Ca/CaM-dep_prot_kinase-assoc pfam_Prot_kinase_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMK2A HGNC ENSG00000070808 108 0 0 137 19 12.1795 GALNT10 0 genome.wustl.edu 37 5 153789220 153789220 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 153789220 153789220 C T SNP GALNT10 ENST00000297107 human ensembl 74_37 +1 known silent c.1284 p.S428 0.003 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT10 HGNC ENSG00000164574 128 0 0 142 16 10.1266 NIPAL4 0 genome.wustl.edu 37 5 156899454 156899454 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 156899454 156899454 T C SNP NIPAL4 ENST00000311946 human ensembl 74_37 +1 known missense c.887 p.I296T 1.000 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA,pfam_DMT - no_errors NIPAL4 HGNC ENSG00000172548 181 0 0 193 30 13.4529 EBF1 0 genome.wustl.edu 37 5 158524021 158524021 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 158524021 158524021 G A SNP EBF1 ENST00000313708 human ensembl 74_37 -1 known silent c.252 p.I84 1.000 NULL pfam_IPT,superfamily_Ig_E-set,superfamily_bHLH_dom,smart_IPT - no_errors EBF1 HGNC ENSG00000164330 41 0 0 34 4 10.5263 RNF145 0 genome.wustl.edu 37 5 158601022 158601022 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 158601022 158601022 G A SNP RNF145 ENST00000518802 human ensembl 74_37 -1 known missense c.856 p.R286C 0.993 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF145 HGNC ENSG00000145860 50 0 0 43 5 10.4167 IL12B 0 genome.wustl.edu 37 5 158743807 158743807 + Silent SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 158743807 158743807 C A SNP IL12B ENST00000231228 human ensembl 74_37 -1 known silent c.873 p.T291 0.000 pirsf_IL-12_beta,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_IL-12_beta,pfam_IL-12_beta_cen-dom,superfamily_Fibronectin_type3,smart_Ig_sub2,prints_IL-12_beta,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IL12B HGNC ENSG00000113302 71 0 0 72 15 17.2414 SLIT3 0 genome.wustl.edu 37 5 168187941 168187941 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 168187941 168187941 C T SNP SLIT3 ENST00000519560 human ensembl 74_37 -1 known silent c.1611 p.L537 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 66 0 0 87 8 8.42105 GABRP 0 genome.wustl.edu 37 5 170215633 170215633 + Missense_Mutation SNP T T A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 170215633 170215633 T A SNP GABRP ENST00000265294 human ensembl 74_37 +1 known missense c.14 p.L5H 0.116 prints_GABAAp_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAp_rcpt,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRP HGNC ENSG00000094755 81 0 0 89 16 15.2381 NSD1 0 genome.wustl.edu 37 5 176673788 176673788 + Silent SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 176673788 176673788 A G SNP NSD1 ENST00000439151 human ensembl 74_37 +1 known silent c.4488 p.P1496 0.001 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,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 NSD1 HGNC ENSG00000165671 77 0 0 70 6 7.89474 RGS14 0 genome.wustl.edu 37 5 176793200 176793200 + Silent SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 176793200 176793200 C A SNP RGS14 ENST00000408923 human ensembl 74_37 +1 known silent c.90 p.P30 0.427 NULL pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS14 HGNC ENSG00000169220 13 0 0 21 6 22.2222 ADAMTS2 0 genome.wustl.edu 37 5 178557097 178557097 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 178557097 178557097 C T SNP ADAMTS2 ENST00000251582 human ensembl 74_37 -1 known missense c.2293 p.V765I 0.623 pfam_ADAM_spacer1 pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ENSG00000087116 27 0 0 38 4 9.52381 FLT4 0 genome.wustl.edu 37 5 180043407 180043407 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 180043407 180043407 C T SNP FLT4 ENST00000261937 human ensembl 74_37 -1 known missense c.3179 p.R1060Q 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_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,prints_VEGFR3_rcpt - no_errors FLT4 HGNC ENSG00000037280 80 0 0 85 17 16.6667 TRIM41 0 genome.wustl.edu 37 5 180661483 180661483 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 180661483 180661483 G A SNP TRIM41 ENST00000315073 human ensembl 74_37 +1 known missense c.1601 p.R534H 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,pfam_DUF3631,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 TRIM41 HGNC ENSG00000146063 28 0 0 40 7 14.8936 IRX2 0 genome.wustl.edu 37 5 2749036 2749036 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 2749036 2749036 G A SNP IRX2 ENST00000302057 human ensembl 74_37 -1 known silent c.786 p.D262 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX2 HGNC ENSG00000170561 22 0 0 39 5 11.3636 IRX2 0 genome.wustl.edu 37 5 2749798 2749798 + Missense_Mutation SNP C C G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 2749798 2749798 C G SNP IRX2 ENST00000302057 human ensembl 74_37 -1 known missense c.353 p.R118P 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX2 HGNC ENSG00000170561 76 0 0 94 7 6.93069 PDZD2 0 genome.wustl.edu 37 5 32073990 32073990 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 32073990 32073990 C T SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known silent c.2778 p.S926 0.996 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 145 0 0 143 22 13.3333 PDZD2 0 genome.wustl.edu 37 5 32090739 32090739 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 32090739 32090739 C T SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known silent c.7185 p.R2395 0.995 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 67 0 0 73 10 12.0482 GOLPH3 0 genome.wustl.edu 37 5 32126337 32126337 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 32126337 32126337 A G SNP GOLPH3 ENST00000265070 human ensembl 74_37 -1 known missense c.878 p.V293A 1.000 NULL pfam_GPP34 - no_errors GOLPH3 HGNC ENSG00000113384 154 0 0 139 22 13.6646 ZFR 0 genome.wustl.edu 37 5 32407029 32407029 + Silent SNP A A T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 32407029 32407029 A T SNP ZFR ENST00000265069 human ensembl 74_37 -1 known silent c.882 p.A294 0.601 NULL pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR HGNC ENSG00000056097 46 0 0 39 9 18.75 UGT3A1 0 genome.wustl.edu 37 5 35991391 35991391 + RNA SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 35991391 35991391 C T SNP UGT3A1 ENST00000513233 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors UGT3A1 HGNC ENSG00000145626 32 0 0 30 6 16.6667 LIFR 0 genome.wustl.edu 37 5 38504084 38504084 + Missense_Mutation SNP T T G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 38504084 38504084 T G SNP LIFR ENST00000263409 human ensembl 74_37 -1 known missense c.1431 p.Q477H 0.965 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 LIFR HGNC ENSG00000113594 87 0 0 79 7 8.13953 MROH2B 0 genome.wustl.edu 37 5 41000384 41000384 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 41000384 41000384 G A SNP MROH2B ENST00000399564 human ensembl 74_37 -1 known missense c.4420 p.R1474C 0.063 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 57 0 0 54 6 10 ANXA2R 0 genome.wustl.edu 37 5 43039978 43039978 + Silent SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 43039978 43039978 A G SNP ANXA2R ENST00000314890 human ensembl 74_37 -1 known silent c.171 p.L57 0.003 NULL NULL - no_errors ANXA2R HGNC ENSG00000177721 86 0 0 90 13 12.6214 NNT 0 genome.wustl.edu 37 5 43609363 43609363 + Silent SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 43609363 43609363 C A SNP NNT ENST00000264663 human ensembl 74_37 +1 known silent c.66 p.S22 0.825 NULL pfam_NADH_DH_b,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N,tigrfam_NADP_transhyd_a - no_errors NNT HGNC ENSG00000112992 53 0 0 65 11 14.4737 SLC9A3 0 genome.wustl.edu 37 5 485314 485314 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 485314 485314 C T SNP SLC9A3 ENST00000264938 human ensembl 74_37 -1 known silent c.708 p.A236 0.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,superfamily_Reg_factor_effector_dom,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A3 HGNC ENSG00000066230 70 0 0 61 12 16.4384 KIF2A 0 genome.wustl.edu 37 5 61669536 61669536 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 61669536 61669536 C A SNP KIF2A ENST00000407818 human ensembl 74_37 +1 known missense c.1783 p.P595T 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 KIF2A HGNC ENSG00000068796 34 0 0 33 6 15.3846 IPO11 0 genome.wustl.edu 37 5 61821993 61821993 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 61821993 61821993 C A SNP IPO11 ENST00000409296 human ensembl 74_37 +1 known missense c.2041 p.L681M 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO11 HGNC ENSG00000086200 50 0 0 64 4 5.88235 CWC27 0 genome.wustl.edu 37 5 64267563 64267563 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 64267563 64267563 A G SNP CWC27 ENST00000381070 human ensembl 74_37 +1 known missense c.1076 p.E359G 1.000 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors CWC27 HGNC ENSG00000153015 59 0 0 40 11 21.5686 TPPP 0 genome.wustl.edu 37 5 666085 666085 + Silent SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 666085 666085 C A SNP TPPP ENST00000360578 human ensembl 74_37 -1 known silent c.465 p.T155 1.000 pfam_P25-alpha pfam_P25-alpha - no_errors TPPP HGNC ENSG00000171368 75 0 0 71 9 11.25 CENPH 0 genome.wustl.edu 37 5 68487667 68487667 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 68487667 68487667 G A SNP CENPH ENST00000283006 human ensembl 74_37 +1 known missense c.180 p.M60I 0.049 NULL pfam_CENP-H - no_errors CENPH HGNC ENSG00000153044 25 0 0 46 6 11.5385 GFM2 0 genome.wustl.edu 37 5 74041649 74041649 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 74041649 74041649 C T SNP GFM2 ENST00000296805 human ensembl 74_37 -1 known missense c.703 p.V235M 0.989 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,tigrfam_Small_GTP-bd_dom pfam_EF_GTP-bd_dom,pfam_EFG_V,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_EFG_III-V,superfamily_Ribosomal_S5_D2-typ_fold,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors GFM2 HGNC ENSG00000164347 72 0 0 63 8 11.2676 ADCY2 0 genome.wustl.edu 37 5 7727281 7727281 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 7727281 7727281 G A SNP ADCY2 ENST00000338316 human ensembl 74_37 +1 known missense c.1778 p.R593Q 1.000 pfam_Adenylate_cyclase-like pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY2 HGNC ENSG00000078295 62 0 0 59 19 24.359 VCAN 0 genome.wustl.edu 37 5 82832916 82832916 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 82832916 82832916 A G SNP VCAN ENST00000265077 human ensembl 74_37 +1 known missense c.4094 p.H1365R 0.107 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 70 0 0 67 14 17.284 ELL2 0 genome.wustl.edu 37 5 95236414 95236414 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 95236414 95236414 C T SNP ELL2 ENST00000237853 human ensembl 74_37 -1 known missense c.937 p.A313T 0.064 NULL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL2 HGNC ENSG00000118985 37 0 0 36 8 18.1818 ERAP1 0 genome.wustl.edu 37 5 96126301 96126301 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 96126301 96126301 C T SNP ERAP1 ENST00000296754 human ensembl 74_37 -1 known missense c.1366 p.A456T 0.742 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ERAP1 HGNC ENSG00000164307 131 0 0 108 19 14.9606 ASCC3 0 genome.wustl.edu 37 6 101086686 101086686 + Missense_Mutation SNP G G C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 101086686 101086686 G C SNP ASCC3 ENST00000369162 human ensembl 74_37 -1 known missense c.3913 p.L1305V 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_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 127 0 0 135 18 11.7647 PRDM1 0 genome.wustl.edu 37 6 106555298 106555298 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 106555298 106555298 C T SNP PRDM1 ENST00000369096 human ensembl 74_37 +1 known silent c.2415 p.S805 1.000 pirsf_Znf_PRDM1 pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM1,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM1 HGNC ENSG00000057657 103 0 0 99 11 10 BEND3 0 genome.wustl.edu 37 6 107390934 107390934 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 107390934 107390934 C T SNP BEND3 ENST00000369042 human ensembl 74_37 -1 known silent c.1461 p.A487 0.778 NULL pfam_BEN_domain - no_errors BEND3 HGNC ENSG00000178409 32 0 0 47 8 14.5455 MAK 0 genome.wustl.edu 37 6 10764752 10764752 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 10764752 10764752 C T SNP MAK ENST00000313243 human ensembl 74_37 -1 known missense c.1805 p.R602H 0.578 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 58 0 0 60 15 20 SOBP 0 genome.wustl.edu 37 6 107955346 107955346 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 107955346 107955346 G A SNP SOBP ENST00000317357 human ensembl 74_37 +1 known missense c.1298 p.G433D 1.000 NULL NULL - no_errors SOBP HGNC ENSG00000112320 106 0 0 138 19 12.1019 MAK 0 genome.wustl.edu 37 6 10796273 10796273 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 10796273 10796273 C T SNP MAK ENST00000313243 human ensembl 74_37 -1 known silent c.1101 p.P367 0.007 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 178 0 0 176 27 13.3005 ERVFRD-1 0 genome.wustl.edu 37 6 11105044 11105044 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 11105044 11105044 C T SNP ERVFRD-1 ENST00000472091 human ensembl 74_37 -1 known missense c.500 p.R167H 0.311 NULL pfam_TLV/ENV_coat_polyprotein - no_errors ERVFRD-1 HGNC ENSG00000244476 256 1 0.389105 298 41 12.0944 FYN 0 genome.wustl.edu 37 6 111995713 111995713 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 111995713 111995713 A G SNP FYN ENST00000354650 human ensembl 74_37 -1 known missense c.1394 p.V465A 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,prints_Ser-Thr/Tyr_kinase_cat_dom 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 FYN HGNC ENSG00000010810 188 0 0 212 27 11.2971 GOPC 0 genome.wustl.edu 37 6 117884447 117884447 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 117884447 117884447 C T SNP GOPC ENST00000368498 human ensembl 74_37 -1 known silent c.1359 p.L453 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GOPC HGNC ENSG00000047932 79 0 0 96 10 9.43396 GJA1 0 genome.wustl.edu 37 6 121768598 121768598 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 121768598 121768598 G A SNP GJA1 ENST00000282561 human ensembl 74_37 +1 known missense c.605 p.R202H 1.000 pfam_Connexin_CCC,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,pfam_Connexin43_C,smart_Connexin_N,prints_Connexin,prints_Connexin43 - no_errors GJA1 HGNC ENSG00000152661 129 0 0 136 21 13.3758 NKAIN2 0 genome.wustl.edu 37 6 124979412 124979412 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 124979412 124979412 G A SNP NKAIN2 ENST00000368417 human ensembl 74_37 +1 known silent c.354 p.T118 0.436 pfam_Na/K-Atpase_Interacting pfam_Na/K-Atpase_Interacting - no_errors NKAIN2 HGNC ENSG00000188580 68 0 0 104 13 11.1111 TCF21 0 genome.wustl.edu 37 6 134210757 134210757 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 134210757 134210757 G T SNP TCF21 ENST00000237316 human ensembl 74_37 +1 known missense c.222 p.Q74H 0.989 pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF21 HGNC ENSG00000118526 54 0 0 48 9 15.7895 SLC35D3 0 genome.wustl.edu 37 6 137245685 137245685 + Nonsense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 137245685 137245685 C T SNP SLC35D3 ENST00000331858 human ensembl 74_37 +1 known nonsense c.1102 p.R368* 0.000 NULL pfam_Tpt_PEP_trans_dom - no_errors SLC35D3 HGNC ENSG00000182747 39 0 0 43 4 8.51064 IFNGR1 0 genome.wustl.edu 37 6 137528135 137528135 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 137528135 137528135 C A SNP IFNGR1 ENST00000367739 human ensembl 74_37 -1 known missense c.165 p.Q55H 0.000 superfamily_Fibronectin_type3 pfam_Interferon_gamma_pox/mammal,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,prints_Interferon_gamma_rcpt_asu - no_errors IFNGR1 HGNC ENSG00000027697 48 0 0 70 13 15.6627 CD83 0 genome.wustl.edu 37 6 14133942 14133942 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 14133942 14133942 C T SNP CD83 ENST00000379153 human ensembl 74_37 +1 known silent c.445 p.L149 0.992 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD83 HGNC ENSG00000112149 71 0 0 61 6 8.95522 NMBR 0 genome.wustl.edu 37 6 142409452 142409452 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 142409452 142409452 C T SNP NMBR ENST00000258042 human ensembl 74_37 -1 known missense c.344 p.G115D 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_NeuroB_rcpt,prints_Bombsn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NMBR HGNC ENSG00000135577 70 0 0 59 6 9.23077 GRM1 0 genome.wustl.edu 37 6 146755425 146755425 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 146755425 146755425 G T SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.3078 p.Q1026H 0.753 NULL pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 98 0 0 125 16 11.3475 LATS1 0 genome.wustl.edu 37 6 150016224 150016224 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 150016224 150016224 G A SNP LATS1 ENST00000253339 human ensembl 74_37 -1 known missense c.482 p.A161V 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/Ts_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors LATS1 HGNC ENSG00000131023 88 0 0 86 15 14.8515 MTHFD1L 0 genome.wustl.edu 37 6 151336756 151336756 + Nonsense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 151336756 151336756 C A SNP MTHFD1L ENST00000367321 human ensembl 74_37 +1 known nonsense c.2513 p.S838* 0.915 pfam_Formate_THF_ligase,superfamily_P-loop_NTPase pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,superfamily_P-loop_NTPase,prints_THF_DH/CycHdrlase - no_errors MTHFD1L HGNC ENSG00000120254 99 0 0 90 16 15.0943 IGF2R 0 genome.wustl.edu 37 6 160501183 160501183 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 160501183 160501183 T C SNP IGF2R ENST00000356956 human ensembl 74_37 +1 known silent c.5709 p.C1903 1.000 pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 114 0 0 121 24 16.5517 MAP3K4 0 genome.wustl.edu 37 6 161470592 161470592 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 161470592 161470592 C A SNP MAP3K4 ENST00000392142 human ensembl 74_37 +1 known missense c.1288 p.P430T 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 MAP3K4 HGNC ENSG00000085511 79 0 0 73 11 13.0952 MAP3K4 0 genome.wustl.edu 37 6 161514015 161514015 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 161514015 161514015 C T SNP MAP3K4 ENST00000392142 human ensembl 74_37 +1 known missense c.3275 p.A1092V 0.983 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K4 HGNC ENSG00000085511 56 0 0 64 7 9.85915 ATXN1 0 genome.wustl.edu 37 6 16328505 16328505 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 16328505 16328505 G A SNP ATXN1 ENST00000244769 human ensembl 74_37 -1 known missense c.37 p.P13S 1.000 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 57 0 0 75 14 15.7303 PDE10A 0 genome.wustl.edu 37 6 165846548 165846548 + Missense_Mutation SNP T T A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 165846548 165846548 T A SNP PDE10A ENST00000539869 human ensembl 74_37 -1 known missense c.607 p.I203F 0.265 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE10A HGNC ENSG00000112541 46 0 0 59 11 15.7143 MLLT4-AS1 0 genome.wustl.edu 37 6 168227076 168227076 + RNA SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 168227076 168227076 G A SNP MLLT4-AS1 ENST00000359760 human ensembl 74_37 -1 known rna NULL NULL 0.886 - - - no_errors MLLT4-AS1 HGNC ENSG00000198221 160 0 0 129 36 21.8182 ZNF165 0 genome.wustl.edu 37 6 28056560 28056560 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 28056560 28056560 A G SNP ZNF165 ENST00000377325 human ensembl 74_37 +1 known missense c.770 p.K257R 0.663 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 ZNF165 HGNC ENSG00000197279 60 0 0 75 11 12.7907 OR2J1 0 genome.wustl.edu 37 6 29069155 29069155 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 29069155 29069155 G A SNP OR2J1 ENST00000377171 human ensembl 74_37 +1 known missense c.436 p.A146T 0.010 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2J1 HGNC ENSG00000204702 225 0 0 228 38 14.2857 TRIM26 0 genome.wustl.edu 37 6 30166872 30166872 + Silent SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 30166872 30166872 C A SNP TRIM26 ENST00000437089 human ensembl 74_37 -1 known silent c.9 p.T3 0.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM26 HGNC ENSG00000234127 43 0 0 40 6 13.0435 HSPA1L 0 genome.wustl.edu 37 6 31779132 31779132 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 31779132 31779132 T C SNP HSPA1L ENST00000375654 human ensembl 74_37 -1 known silent c.618 p.T206 0.820 pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA1L HGNC ENSG00000204390 118 0 0 115 15 11.5385 PBX2 0 genome.wustl.edu 37 6 32155040 32155040 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 32155040 32155040 G T SNP PBX2 ENST00000375050 human ensembl 74_37 -1 known missense c.1003 p.P335T 1.000 NULL pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PBX2 HGNC ENSG00000204304 47 0 0 65 8 10.9589 BTNL2 0 genome.wustl.edu 37 6 32364033 32364033 + Silent SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 32364033 32364033 A G SNP BTNL2 ENST00000454136 human ensembl 74_37 -1 known silent c.861 p.R287 0.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors BTNL2 HGNC ENSG00000204290 36 0 0 46 5 9.80392 GRM4 0 genome.wustl.edu 37 6 34003601 34003601 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 34003601 34003601 C T SNP GRM4 ENST00000374181 human ensembl 74_37 -1 known silent c.2286 p.L762 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C,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_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B - no_errors GRM4 HGNC ENSG00000124493 60 0 0 54 8 12.9032 RPS10 0 genome.wustl.edu 37 6 34392485 34392485 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 34392485 34392485 G A SNP RPS10 ENST00000326199 human ensembl 74_37 -1 known missense c.283 p.R95C 1.000 pfam_S10_plectin_N pfam_S10_plectin_N - no_errors RPS10 HGNC ENSG00000124614 39 0 0 34 3 8.10811 ETV7 0 genome.wustl.edu 37 6 36339255 36339255 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 36339255 36339255 G A SNP ETV7 ENST00000340181 human ensembl 74_37 -1 known silent c.516 p.G172 0.199 NULL pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV7 HGNC ENSG00000010030 20 0 0 17 4 19.0476 DNAH8 0 genome.wustl.edu 37 6 38800181 38800181 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 38800181 38800181 C T SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known silent c.3621 p.D1207 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 42 0 0 56 6 9.67742 KIF6 0 genome.wustl.edu 37 6 39688506 39688506 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 39688506 39688506 T C SNP KIF6 ENST00000287152 human ensembl 74_37 -1 known missense c.148 p.N50D 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF6 HGNC ENSG00000164627 54 0 0 48 7 12.7273 FAM217A 0 genome.wustl.edu 37 6 4069468 4069468 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 4069468 4069468 A G SNP FAM217A ENST00000274673 human ensembl 74_37 -1 known missense c.989 p.V330A 0.000 NULL NULL - no_errors FAM217A HGNC ENSG00000145975 90 0 0 79 18 18.5567 MED20 0 genome.wustl.edu 37 6 41884548 41884548 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 41884548 41884548 C T SNP MED20 ENST00000265350 human ensembl 74_37 -1 known silent c.144 p.T48 0.017 pfam_Mediator_Med20 pfam_Mediator_Med20 - no_errors MED20 HGNC ENSG00000124641 134 0 0 130 25 16.129 CUL7 0 genome.wustl.edu 37 6 43018788 43018788 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 43018788 43018788 C T SNP CUL7 ENST00000535468 human ensembl 74_37 -1 known missense c.1403 p.R468Q 1.000 pfam_CPH_domain pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC ENSG00000044090 73 0 0 113 19 14.3939 CUL9 0 genome.wustl.edu 37 6 43160854 43160854 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 43160854 43160854 C T SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known missense c.2296 p.P766S 0.997 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 278 0 0 315 40 11.2676 TTBK1 0 genome.wustl.edu 37 6 43250532 43250532 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 43250532 43250532 A G SNP TTBK1 ENST00000259750 human ensembl 74_37 +1 known missense c.2054 p.Y685C 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 TTBK1 HGNC ENSG00000146216 157 0 0 185 36 16.2896 ZNF318 0 genome.wustl.edu 37 6 43305046 43305046 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 43305046 43305046 G A SNP ZNF318 ENST00000361428 human ensembl 74_37 -1 known silent c.6690 p.G2230 0.000 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ENSG00000171467 61 0 0 68 9 11.6883 AARS2 0 genome.wustl.edu 37 6 44271116 44271116 + Silent SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 44271116 44271116 C A SNP AARS2 ENST00000244571 human ensembl 74_37 -1 known silent c.2052 p.V684 0.934 superfamily_Thr/Ala-tRNA-synth_IIc_edit,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 46 0 0 50 8 13.7931 CDC5L 0 genome.wustl.edu 37 6 44376246 44376246 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 44376246 44376246 T C SNP CDC5L ENST00000371477 human ensembl 74_37 +1 known silent c.969 p.T323 0.961 NULL pfam_DUF3351,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors CDC5L HGNC ENSG00000096401 80 0 0 98 13 11.7117 PLA2G7 0 genome.wustl.edu 37 6 46677119 46677119 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 46677119 46677119 G A SNP PLA2G7 ENST00000274793 human ensembl 74_37 -1 known missense c.814 p.H272Y 1.000 pfam_PAF_acetylhydro,pirsf_PAF_acetylhydro_eukaryote pfam_PAF_acetylhydro,pirsf_PAF_acetylhydro_eukaryote - no_errors PLA2G7 HGNC ENSG00000146070 84 0 0 90 14 13.4615 TFAP2D 0 genome.wustl.edu 37 6 50683193 50683193 + Missense_Mutation SNP G G C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 50683193 50683193 G C SNP TFAP2D ENST00000008391 human ensembl 74_37 +1 known missense c.404 p.G135A 1.000 NULL pfam_TF_AP2_C,prints_TF_AP2_C - no_errors TFAP2D HGNC ENSG00000008197 122 0 0 112 21 15.7895 PKHD1 0 genome.wustl.edu 37 6 51613339 51613339 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 51613339 51613339 G A SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known silent c.9075 p.G3025 0.374 superfamily_Pectin_lyase_fold/virulence,smart_PbH1 pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 71 0 0 82 13 13.6842 DST 0 genome.wustl.edu 37 6 56485139 56485139 + Silent SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 56485139 56485139 C A SNP DST ENST00000370765 human ensembl 74_37 -1 known silent c.3693 p.V1231 0.994 NULL pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DST HGNC ENSG00000151914 64 0 0 73 7 8.75 HUS1B 0 genome.wustl.edu 37 6 656464 656464 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 656464 656464 G A SNP HUS1B ENST00000380907 human ensembl 74_37 -1 known missense c.481 p.R161C 0.000 pfam_Hus1/Mec3,pirsf_Cell_cycle_HUS1 pfam_Hus1/Mec3,pirsf_Cell_cycle_HUS1 - no_errors HUS1B HGNC ENSG00000188996 152 0 0 187 17 8.33333 RIOK1 0 genome.wustl.edu 37 6 7393491 7393491 + Silent SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 7393491 7393491 A G SNP RIOK1 ENST00000379834 human ensembl 74_37 +1 known silent c.231 p.G77 0.907 pirsf_Ser/Thr_kinase_Rio1 pfam_RIO-like_kinase,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio1 - no_errors RIOK1 HGNC ENSG00000124784 106 0 0 118 17 12.5926 DSP 0 genome.wustl.edu 37 6 7583718 7583718 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 7583718 7583718 C T SNP DSP ENST00000379802 human ensembl 74_37 +1 known missense c.6223 p.R2075W 0.952 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 162 0 0 168 23 12.0419 DSP 0 genome.wustl.edu 37 6 7585144 7585144 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 7585144 7585144 G T SNP DSP ENST00000379802 human ensembl 74_37 +1 known missense c.7649 p.G2550V 1.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 77 0 0 94 13 12.1495 MYO6 0 genome.wustl.edu 37 6 76564979 76564979 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 76564979 76564979 G A SNP MYO6 ENST00000369981 human ensembl 74_37 +1 known missense c.1202 p.G401D 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO6 HGNC ENSG00000196586 34 0 0 34 7 17.0732 MYO6 0 genome.wustl.edu 37 6 76623846 76623846 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 76623846 76623846 G A SNP MYO6 ENST00000369981 human ensembl 74_37 +1 known missense c.3509 p.R1170H 1.000 NULL pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO6 HGNC ENSG00000196586 168 0 0 169 29 14.6465 IBTK 0 genome.wustl.edu 37 6 82911177 82911177 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 82911177 82911177 C T SNP IBTK ENST00000306270 human ensembl 74_37 -1 known missense c.2752 p.G918S 1.000 NULL pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens - no_errors IBTK HGNC ENSG00000005700 27 0 0 33 5 13.1579 ZNF292 0 genome.wustl.edu 37 6 87964573 87964573 + Nonsense_Mutation SNP T T A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 87964573 87964573 T A SNP ZNF292 ENST00000369577 human ensembl 74_37 +1 known nonsense c.1226 p.L409* 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 35 0 0 41 8 16.3265 MDN1 0 genome.wustl.edu 37 6 90366466 90366466 + Missense_Mutation SNP A A C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 90366466 90366466 A C SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.15238 p.F5080V 0.907 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 178 0 0 203 33 13.9831 MANEA 0 genome.wustl.edu 37 6 96034484 96034484 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 96034484 96034484 A G SNP MANEA ENST00000358812 human ensembl 74_37 +1 known missense c.169 p.K57E 0.117 NULL superfamily_Glycoside_hydrolase_SF - no_errors MANEA HGNC ENSG00000172469 67 0 0 76 10 11.6279 KLHL32 0 genome.wustl.edu 37 6 97562303 97562303 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 97562303 97562303 C A SNP KLHL32 ENST00000369261 human ensembl 74_37 +1 known missense c.1272 p.N424K 1.000 pfam_Kelch_1,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 KLHL32 HGNC ENSG00000186231 76 0 0 67 12 15.1899 SRRT 0 genome.wustl.edu 37 7 100483916 100483916 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 100483916 100483916 C T SNP SRRT ENST00000388793 human ensembl 74_37 +1 known missense c.1504 p.R502C 0.989 NULL pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ENSG00000087087 60 0 0 65 11 14.4737 TRIM56 0 genome.wustl.edu 37 7 100732461 100732461 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 100732461 100732461 G A SNP TRIM56 ENST00000306085 human ensembl 74_37 +1 known missense c.1868 p.R623Q 0.961 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_CheY-like_superfamily,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM56 HGNC ENSG00000169871 94 0 0 111 17 13.2812 PLOD3 0 genome.wustl.edu 37 7 100849621 100849621 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 100849621 100849621 C T SNP PLOD3 ENST00000223127 human ensembl 74_37 -1 known missense c.2158 p.E720K 1.000 pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD3 HGNC ENSG00000106397 67 0 0 68 8 10.5263 ORAI2 0 genome.wustl.edu 37 7 102087428 102087428 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 102087428 102087428 C T SNP ORAI2 ENST00000356387 human ensembl 74_37 +1 known missense c.694 p.R232C 1.000 pfam_CRAC_channel pfam_CRAC_channel - no_errors ORAI2 HGNC ENSG00000160991 14 0 0 18 4 18.1818 SLC26A5 0 genome.wustl.edu 37 7 103014994 103014994 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 103014994 103014994 G T SNP SLC26A5 ENST00000306312 human ensembl 74_37 -1 known missense c.2087 p.P696H 0.810 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 SLC26A5 HGNC ENSG00000170615 52 0 0 54 6 10 THSD7A 0 genome.wustl.edu 37 7 11485856 11485856 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 11485856 11485856 C T SNP THSD7A ENST00000423059 human ensembl 74_37 -1 known missense c.2896 p.V966M 1.000 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 163 0 0 140 20 12.5 TSPAN12 0 genome.wustl.edu 37 7 120496814 120496814 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 120496814 120496814 C T SNP TSPAN12 ENST00000222747 human ensembl 74_37 -1 known missense c.4 p.A2T 1.000 NULL pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN12 HGNC ENSG00000106025 70 0 0 73 9 10.9756 AASS 0 genome.wustl.edu 37 7 121716636 121716636 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 121716636 121716636 C A SNP AASS ENST00000393376 human ensembl 74_37 -1 known missense c.2688 p.M896I 0.981 pfam_Saccharopine_DH/HSpermid_syn pfam_Saccharopine_DH/HSpermid_syn,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N - no_errors AASS HGNC ENSG00000008311 64 0 0 51 6 10.5263 GCC1 0 genome.wustl.edu 37 7 127222690 127222690 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 127222690 127222690 C T SNP GCC1 ENST00000321407 human ensembl 74_37 -1 known missense c.1706 p.R569Q 0.694 NULL pfam_GRIP,superfamily_ARM-type_fold,smart_GRIP,pfscan_GRIP - no_errors GCC1 HGNC ENSG00000179562 67 0 0 66 14 17.5 FSCN3 0 genome.wustl.edu 37 7 127235972 127235972 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 127235972 127235972 G T SNP FSCN3 ENST00000265825 human ensembl 74_37 +1 known missense c.756 p.R252S 0.066 superfamily_Actin_cross-linking pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FSCN3 HGNC ENSG00000106328 107 0 0 109 13 10.6557 CHCHD3 0 genome.wustl.edu 37 7 132470351 132470351 + RNA SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 132470351 132470351 C A SNP CHCHD3 ENST00000476546 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CHCHD3 HGNC ENSG00000106554 26 0 0 26 3 10.3448 SLC13A4 0 genome.wustl.edu 37 7 135384171 135384171 + Silent SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 135384171 135384171 G T SNP SLC13A4 ENST00000354042 human ensembl 74_37 -1 known silent c.837 p.G279 0.079 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom,pfam_DctM - no_errors SLC13A4 HGNC ENSG00000164707 63 0 0 60 13 17.8082 ZC3HAV1L 0 genome.wustl.edu 37 7 138711299 138711299 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 138711299 138711299 G A SNP ZC3HAV1L ENST00000275766 human ensembl 74_37 -1 known silent c.894 p.C298 0.001 NULL NULL - no_errors ZC3HAV1L HGNC ENSG00000146858 46 0 0 65 5 7.14286 NOBOX 0 genome.wustl.edu 37 7 144098459 144098459 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 144098459 144098459 C T SNP NOBOX ENST00000467773 human ensembl 74_37 -1 known missense c.524 p.R175H 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors NOBOX HGNC ENSG00000106410 26 0 0 25 6 19.3548 SSPO 0 genome.wustl.edu 37 7 149493767 149493767 + RNA SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 149493767 149493767 G A SNP SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 0.267 - - - no_errors SSPO HGNC ENSG00000197558 26 0 0 23 3 11.5385 GIMAP6 0 genome.wustl.edu 37 7 150325347 150325347 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 150325347 150325347 G A SNP GIMAP6 ENST00000493969 human ensembl 74_37 -1 known missense c.115 p.P39S 0.000 NULL NULL - no_errors GIMAP6 HGNC ENSG00000133561 66 0 0 77 15 16.3043 SLC4A2 0 genome.wustl.edu 37 7 150768521 150768521 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 150768521 150768521 C T SNP SLC4A2 ENST00000413384 human ensembl 74_37 +1 known missense c.2020 p.P674S 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk - no_errors SLC4A2 HGNC ENSG00000164889 18 0 0 20 3 13.0435 GBX1 0 genome.wustl.edu 37 7 150864251 150864251 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 150864251 150864251 C T SNP GBX1 ENST00000297537 human ensembl 74_37 -1 known missense c.385 p.A129T 0.014 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors GBX1 HGNC ENSG00000164900 28 0 0 19 6 24 KMT2C 0 genome.wustl.edu 37 7 151853315 151853315 + Missense_Mutation SNP T T G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 151853315 151853315 T G SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.11958 p.K3986N 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 120 0 0 142 18 11.25 MNX1 0 genome.wustl.edu 37 7 156798390 156798390 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 156798390 156798390 T C SNP MNX1 ENST00000252971 human ensembl 74_37 -1 known missense c.1030 p.S344G 0.583 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors MNX1 HGNC ENSG00000130675 26 0 0 27 5 15.625 MEOX2 0 genome.wustl.edu 37 7 15725591 15725591 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 15725591 15725591 G A SNP MEOX2 ENST00000262041 human ensembl 74_37 -1 known missense c.437 p.P146L 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors MEOX2 HGNC ENSG00000106511 77 0 0 99 14 12.3894 CCDC126 0 genome.wustl.edu 37 7 23650845 23650845 + RNA SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 23650845 23650845 T C SNP CCDC126 ENST00000486109 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors CCDC126 HGNC ENSG00000169193 24 0 0 28 4 12.5 HOXA4 0 genome.wustl.edu 37 7 27170241 27170241 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 27170241 27170241 C T SNP HOXA4 ENST00000360046 human ensembl 74_37 -1 known missense c.112 p.G38R 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA4 HGNC ENSG00000197576 8 0 0 8 3 27.2727 HOXA9 0 genome.wustl.edu 37 7 27204787 27204787 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 27204787 27204787 G A SNP HOXA9 ENST00000343483 human ensembl 74_37 -1 known missense c.290 p.P97L 1.000 pfam_Hox9_activation_N,pirsf_Homeobox_Hox9 pfam_Hox9_activation_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXA9 HGNC ENSG00000078399 23 0 0 18 3 14.2857 TAX1BP1 0 genome.wustl.edu 37 7 27839705 27839705 + Missense_Mutation SNP A A T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 27839705 27839705 A T SNP TAX1BP1 ENST00000396319 human ensembl 74_37 +1 known missense c.1760 p.Y587F 1.000 NULL pfam_CoCoA - no_errors TAX1BP1 HGNC ENSG00000106052 32 0 0 39 4 9.30233 CREB5 0 genome.wustl.edu 37 7 28763860 28763860 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 28763860 28763860 A G SNP CREB5 ENST00000357727 human ensembl 74_37 +1 known missense c.613 p.N205D 1.000 pirsf_TF_cAMP-dep pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP - no_errors CREB5 HGNC ENSG00000146592 44 0 0 57 3 5 NOD1 0 genome.wustl.edu 37 7 30494838 30494838 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 30494838 30494838 G A SNP NOD1 ENST00000222823 human ensembl 74_37 -1 known silent c.291 p.Y97 0.985 pfam_CARD,superfamily_DEATH-like_dom pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD1 HGNC ENSG00000106100 65 0 0 79 8 9.1954 DPY19L2P1 0 genome.wustl.edu 37 7 35131521 35131521 + RNA SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 35131521 35131521 G A SNP DPY19L2P1 ENST00000436258 human ensembl 74_37 -1 known rna NULL NULL 0.979 - - - no_errors DPY19L2P1 HGNC ENSG00000189212 53 0 0 70 4 5.40541 DPY19L2P1 0 genome.wustl.edu 37 7 35131548 35131548 + RNA SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 35131548 35131548 G A SNP DPY19L2P1 ENST00000436258 human ensembl 74_37 -1 known rna NULL NULL 0.985 - - - no_errors DPY19L2P1 HGNC ENSG00000189212 45 0 0 58 4 6.45161 TBX20 0 genome.wustl.edu 37 7 35244126 35244126 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 35244126 35244126 T C SNP TBX20 ENST00000408931 human ensembl 74_37 -1 known missense c.959 p.E320G 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX20 HGNC ENSG00000164532 45 0 0 38 9 19.1489 HERPUD2 0 genome.wustl.edu 37 7 35674970 35674970 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 35674970 35674970 G A SNP HERPUD2 ENST00000311350 human ensembl 74_37 -1 known missense c.716 p.P239L 1.000 NULL pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors HERPUD2 HGNC ENSG00000122557 147 0 0 149 18 10.7784 EPDR1 0 genome.wustl.edu 37 7 37988614 37988614 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 37988614 37988614 G A SNP EPDR1 ENST00000559325 human ensembl 74_37 +1 known missense c.802 p.V268I 0.994 pfam_Ependymin,smart_Ependymin pfam_Ependymin,smart_Ependymin,prints_Ependymin - no_errors EPDR1 HGNC ENSG00000086289 71 0 0 84 11 11.5789 GLI3 0 genome.wustl.edu 37 7 42005509 42005509 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 42005509 42005509 G A SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known silent c.3162 p.G1054 0.011 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 62 0 0 68 10 12.8205 HECW1 0 genome.wustl.edu 37 7 43477737 43477737 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 43477737 43477737 G A SNP HECW1 ENST00000395891 human ensembl 74_37 +1 known missense c.937 p.A313T 1.000 superfamily_C2_dom,smart_C2_dom pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW1 HGNC ENSG00000002746 58 0 0 66 8 10.8108 PKD1L1 0 genome.wustl.edu 37 7 47851635 47851635 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 47851635 47851635 G A SNP PKD1L1 ENST00000289672 human ensembl 74_37 -1 known missense c.7361 p.T2454I 0.001 pfam_PKD1_2_channel 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 12 0 0 7 3 30 POM121L12 0 genome.wustl.edu 37 7 53103493 53103493 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 53103493 53103493 G A SNP POM121L12 ENST00000408890 human ensembl 74_37 +1 known silent c.129 p.T43 0.001 NULL NULL - no_errors POM121L12 HGNC ENSG00000221900 67 0 0 61 7 10.2941 EGFR 0 genome.wustl.edu 37 7 55224270 55224270 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 55224270 55224270 A G SNP EGFR ENST00000275493 human ensembl 74_37 +1 known missense c.1051 p.I351V 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EGFR HGNC ENSG00000146648 79 0 0 121 19 13.5714 GUSB 0 genome.wustl.edu 37 7 65432725 65432725 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 65432725 65432725 A G SNP GUSB ENST00000304895 human ensembl 74_37 -1 known missense c.1646 p.F549S 0.220 pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_2 pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2 - no_errors GUSB HGNC ENSG00000169919 70 0 0 79 12 13.1868 AUTS2 0 genome.wustl.edu 37 7 69364323 69364323 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 69364323 69364323 C A SNP AUTS2 ENST00000342771 human ensembl 74_37 +1 known missense c.361 p.L121M 0.968 NULL prints_AUTS2 - no_errors AUTS2 HGNC ENSG00000158321 87 0 0 96 11 10.2804 AUTS2 0 genome.wustl.edu 37 7 69583138 69583138 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 69583138 69583138 C A SNP AUTS2 ENST00000342771 human ensembl 74_37 +1 known missense c.543 p.S181R 1.000 NULL prints_AUTS2 - no_errors AUTS2 HGNC ENSG00000158321 56 0 0 71 17 19.3182 AUTS2 0 genome.wustl.edu 37 7 70255474 70255474 + Missense_Mutation SNP G G C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 70255474 70255474 G C SNP AUTS2 ENST00000342771 human ensembl 74_37 +1 known missense c.3272 p.G1091A 1.000 NULL prints_AUTS2 - no_errors AUTS2 HGNC ENSG00000158321 26 0 0 33 4 10.8108 WBSCR28 0 genome.wustl.edu 37 7 73279655 73279655 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 73279655 73279655 G A SNP WBSCR28 ENST00000320531 human ensembl 74_37 +1 known silent c.405 p.L135 0.970 NULL NULL - no_errors WBSCR28 HGNC ENSG00000175877 41 0 0 61 11 15.2778 LAT2 0 genome.wustl.edu 37 7 73635972 73635972 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 73635972 73635972 C A SNP LAT2 ENST00000275635 human ensembl 74_37 +1 known missense c.338 p.P113H 0.821 NULL NULL - no_errors LAT2 HGNC ENSG00000086730 194 0 0 178 24 11.8812 MIOS 0 genome.wustl.edu 37 7 7612108 7612108 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 7612108 7612108 T C SNP MIOS ENST00000340080 human ensembl 74_37 +1 known missense c.2 p.M1T 1.000 NULL smart_WD40_repeat - no_errors MIOS HGNC ENSG00000164654 41 0 0 36 4 10 SEMA3C 0 genome.wustl.edu 37 7 80387683 80387683 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 80387683 80387683 C T SNP SEMA3C ENST00000544525 human ensembl 74_37 -1 known missense c.1661 p.G554D 1.000 superfamily_Plexin-like_fold,smart_Plexin-like_fold pfam_Semap_dom,pfam_Ig_I-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3C HGNC ENSG00000075223 94 0 0 98 13 11.7117 SEMA3A 0 genome.wustl.edu 37 7 83591011 83591011 + Silent SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 83591011 83591011 G T SNP SEMA3A ENST00000265362 human ensembl 74_37 -1 known silent c.1992 p.T664 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3A HGNC ENSG00000075213 89 0 0 87 10 10.3093 NXPH1 0 genome.wustl.edu 37 7 8475382 8475382 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 8475382 8475382 G A SNP NXPH1 ENST00000405863 human ensembl 74_37 +1 known silent c.39 p.Q13 1.000 pirsf_Neurexophilin pfam_NXPH/NXPE,pirsf_Neurexophilin - no_errors NXPH1 HGNC ENSG00000122584 100 0 0 104 19 15.4472 ABCB4 0 genome.wustl.edu 37 7 87035769 87035769 + Nonsense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 87035769 87035769 C T SNP ABCB4 ENST00000265723 human ensembl 74_37 -1 known nonsense c.3342 p.W1114* 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB4 HGNC ENSG00000005471 72 0 0 95 13 12.037 ZNF804B 0 genome.wustl.edu 37 7 88847469 88847469 + Missense_Mutation SNP G G C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 88847469 88847469 G C SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.109 p.D37H 1.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 58 0 0 48 11 18.6441 FZD1 0 genome.wustl.edu 37 7 90895674 90895674 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 90895674 90895674 G A SNP FZD1 ENST00000287934 human ensembl 74_37 +1 known silent c.1479 p.A493 0.833 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD1 HGNC ENSG00000157240 203 0 0 211 34 13.8776 PPP1R9A 0 genome.wustl.edu 37 7 94740588 94740588 + Silent SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 94740588 94740588 C A SNP PPP1R9A ENST00000289495 human ensembl 74_37 +1 known silent c.1413 p.S471 0.996 NULL pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors PPP1R9A HGNC ENSG00000158528 41 0 0 62 13 17.3333 OR2AE1 0 genome.wustl.edu 37 7 99474544 99474544 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 99474544 99474544 G A SNP OR2AE1 ENST00000316368 human ensembl 74_37 -1 known missense c.113 p.A38V 0.077 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2AE1 HGNC ENSG00000244623 56 0 0 66 9 12 TRIM4 0 genome.wustl.edu 37 7 99490019 99490019 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 99490019 99490019 C T SNP TRIM4 ENST00000355947 human ensembl 74_37 -1 known missense c.1270 p.A424T 0.008 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM4 HGNC ENSG00000146833 277 0 0 251 34 11.9298 RP1L1 0 genome.wustl.edu 37 8 10467926 10467926 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 8 10467926 10467926 T C SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.3682 p.T1228A 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 41 0 0 59 9 13.2353 RP1L1 0 genome.wustl.edu 37 8 10468442 10468442 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 8 10468442 10468442 C T SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.3166 p.A1056T 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 16 0 0 18 6 25 KIAA0196 0 genome.wustl.edu 37 8 126061300 126061300 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 8 126061300 126061300 C T SNP KIAA0196 ENST00000318410 human ensembl 74_37 -1 known missense c.2327 p.R776H 1.000 pfam_WASH_strumpellin pfam_WASH_strumpellin,superfamily_Ig_E-set - no_errors KIAA0196 HGNC ENSG00000164961 42 0 0 40 5 11.1111 TG 0 genome.wustl.edu 37 8 133906122 133906122 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 8 133906122 133906122 G A SNP TG ENST00000220616 human ensembl 74_37 +1 known silent c.2949 p.A983 0.000 superfamily_Thyroglobulin_1,pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 75 0 0 87 12 12.1212 ST3GAL1 0 genome.wustl.edu 37 8 134488254 134488254 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 8 134488254 134488254 C T SNP ST3GAL1 ENST00000319914 human ensembl 74_37 -1 known missense c.14 p.R5Q 0.311 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL1 HGNC ENSG00000008513 77 0 0 97 13 11.8182 BAI1 0 genome.wustl.edu 37 8 143614778 143614778 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 8 143614778 143614778 C T SNP BAI1 ENST00000323289 human ensembl 74_37 +1 known missense c.3521 p.S1174L 0.998 pfam_GPCR_2_secretin-like,prints_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC ENSG00000181790 30 0 0 44 5 10.2041 ZNF623 0 genome.wustl.edu 37 8 144733545 144733545 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 8 144733545 144733545 C T SNP ZNF623 ENST00000501748 human ensembl 74_37 +1 known silent c.1503 p.N501 0.637 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF623 HGNC ENSG00000183309 94 0 0 85 11 11.4583 PLEC 0 genome.wustl.edu 37 8 144991091 144991091 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 8 144991091 144991091 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.13309 p.R4437W 1.000 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 61 0 0 49 8 14.0351 PLEC 0 genome.wustl.edu 37 8 144991208 144991208 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 8 144991208 144991208 C T SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.13192 p.A4398T 0.910 NULL 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 75 0 0 94 10 9.61538 PLEC 0 genome.wustl.edu 37 8 144992277 144992277 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 8 144992277 144992277 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known silent c.12123 p.D4041 0.845 NULL 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 17 0 0 14 5 26.3158 SPATC1 0 genome.wustl.edu 37 8 145095491 145095491 + Silent SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 8 145095491 145095491 C A SNP SPATC1 ENST00000377470 human ensembl 74_37 +1 known silent c.789 p.P263 0.000 NULL NULL - no_errors SPATC1 HGNC ENSG00000186583 104 0 0 134 15 10.0671 KIFC2 0 genome.wustl.edu 37 8 145692675 145692675 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 8 145692675 145692675 G A SNP KIFC2 ENST00000301332 human ensembl 74_37 +1 known silent c.420 p.L140 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIFC2 HGNC ENSG00000167702 87 0 0 97 20 17.094 LRRC14 0 genome.wustl.edu 37 8 145749740 145749740 + RNA SNP T T G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 8 145749740 145749740 T G SNP LRRC14 ENST00000528528 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors LRRC14 HGNC ENSG00000160959 16 0 0 16 4 20 RPL8 0 genome.wustl.edu 37 8 146015749 146015749 + Silent SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 8 146015749 146015749 C A SNP RPL8 ENST00000262584 human ensembl 74_37 -1 known silent c.606 p.V202 1.000 pfam_Ribosomal_L2_C,superfamily_Translation_prot_SH3-like,pirsf_Ribosomal_L2 pfam_Ribosomal_L2_C,pfam_Rbsml_prot_L2_RNA-bd_dom,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold,pirsf_Ribosomal_L2 - no_errors RPL8 HGNC ENSG00000161016 59 0 0 75 11 12.7907 ZNF16 0 genome.wustl.edu 37 8 146156815 146156815 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 8 146156815 146156815 C A SNP ZNF16 ENST00000276816 human ensembl 74_37 -1 known missense c.1358 p.R453I 0.101 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF16 HGNC ENSG00000170631 72 0 0 72 16 18.1818 C8orf33 0 genome.wustl.edu 37 8 146278795 146278795 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 8 146278795 146278795 C T SNP C8orf33 ENST00000331434 human ensembl 74_37 +1 known silent c.516 p.A172 0.002 NULL NULL - no_errors C8orf33 HGNC ENSG00000182307 44 0 0 71 14 16.4706 DLGAP2 0 genome.wustl.edu 37 8 1497565 1497565 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 8 1497565 1497565 A G SNP DLGAP2 ENST00000421627 human ensembl 74_37 +1 known missense c.706 p.N236D 0.000 NULL pfam_GKAP - no_errors DLGAP2 HGNC ENSG00000198010 118 0 0 135 18 11.7647 RPL23AP53 0 genome.wustl.edu 37 8 163606 163606 + RNA SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 8 163606 163606 C T SNP RPL23AP53 ENST00000606975 human ensembl 74_37 -1 known rna NULL NULL 0.995 - - - no_errors RPL23AP53 HGNC ENSG00000223508 66 0 0 67 12 15.1899 FAM160B2 0 genome.wustl.edu 37 8 21958382 21958382 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 8 21958382 21958382 C T SNP FAM160B2 ENST00000289921 human ensembl 74_37 +1 known silent c.1515 p.T505 0.000 NULL pfam_RetinoicA-induced_16-like - no_errors FAM160B2 HGNC ENSG00000158863 146 0 0 141 25 15.0602 LGI3 0 genome.wustl.edu 37 8 22012138 22012138 + Nonsense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 8 22012138 22012138 G A SNP LGI3 ENST00000518365 human ensembl 74_37 -1 known nonsense c.331 p.Q111* 1.000 NULL NULL - no_errors LGI3 HGNC ENSG00000168481 52 0 0 61 9 12.8571 CCAR2 0 genome.wustl.edu 37 8 22473261 22473261 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 8 22473261 22473261 G A SNP CCAR2 ENST00000308511 human ensembl 74_37 +1 known missense c.1444 p.A482T 0.130 NULL superfamily_NA-bd_OB-fold - no_errors CCAR2 HGNC ENSG00000158941 95 0 0 88 11 11.1111 TRIM35 0 genome.wustl.edu 37 8 27146721 27146721 + Nonsense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 8 27146721 27146721 G A SNP TRIM35 ENST00000305364 human ensembl 74_37 -1 known nonsense c.862 p.Q288* 1.000 pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM35 HGNC ENSG00000104228 35 0 0 49 5 9.25926 CHRNA2 0 genome.wustl.edu 37 8 27327344 27327344 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 8 27327344 27327344 C T SNP CHRNA2 ENST00000407991 human ensembl 74_37 -1 known silent c.228 p.P76 0.643 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA2 HGNC ENSG00000120903 145 0 0 185 19 9.31373 CSMD1 0 genome.wustl.edu 37 8 3046481 3046481 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 8 3046481 3046481 G A SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known silent c.5454 p.G1818 1.000 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 24 0 0 29 3 9.375 TEX15 0 genome.wustl.edu 37 8 30695230 30695230 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 8 30695230 30695230 C A SNP TEX15 ENST00000256246 human ensembl 74_37 -1 known missense c.7421 p.G2474V 0.000 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 150 0 0 152 24 13.6364 WRN 0 genome.wustl.edu 37 8 30945390 30945390 + Missense_Mutation SNP A A T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 8 30945390 30945390 A T SNP WRN ENST00000298139 human ensembl 74_37 +1 known missense c.1530 p.E510D 0.972 NULL pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors WRN HGNC ENSG00000165392 58 0 0 67 14 17.284 RAB11FIP1 0 genome.wustl.edu 37 8 37730383 37730383 + Missense_Mutation SNP T T G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 8 37730383 37730383 T G SNP RAB11FIP1 ENST00000330843 human ensembl 74_37 -1 known missense c.1937 p.N646T 0.000 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RAB11FIP1 HGNC ENSG00000156675 126 0 0 130 14 9.72222 KAT6A 0 genome.wustl.edu 37 8 41836271 41836271 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 8 41836271 41836271 C T SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known missense c.932 p.R311Q 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 138 0 0 121 14 10.3704 PRKDC 0 genome.wustl.edu 37 8 48701529 48701529 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 8 48701529 48701529 A G SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known missense c.10837 p.Y3613H 0.101 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 49 0 0 65 9 12.1622 GGH 0 genome.wustl.edu 37 8 63939790 63939790 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 8 63939790 63939790 G A SNP GGH ENST00000260118 human ensembl 74_37 -1 known missense c.310 p.R104C 0.000 pfam_Peptidase_C26,pfam_GATASE pfam_Peptidase_C26,pfam_GATASE - no_errors GGH HGNC ENSG00000137563 119 0 0 111 22 16.5414 C8orf46 0 genome.wustl.edu 37 8 67405953 67405953 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 8 67405953 67405953 G A SNP C8orf46 ENST00000305454 human ensembl 74_37 +1 known missense c.70 p.V24I 1.000 NULL NULL - no_errors C8orf46 HGNC ENSG00000169085 35 0 0 51 4 7.27273 PREX2 0 genome.wustl.edu 37 8 69069574 69069574 + Nonsense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 8 69069574 69069574 G T SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known nonsense c.4249 p.G1417* 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 60 0 0 62 8 11.4286 SLCO5A1 0 genome.wustl.edu 37 8 70744535 70744535 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 8 70744535 70744535 G A SNP SLCO5A1 ENST00000260126 human ensembl 74_37 -1 known missense c.374 p.T125M 0.992 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 53 0 0 73 13 15.1163 SLC7A13 0 genome.wustl.edu 37 8 87230057 87230057 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 8 87230057 87230057 G A SNP SLC7A13 ENST00000297524 human ensembl 74_37 -1 known missense c.821 p.A274V 0.933 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A13 HGNC ENSG00000164893 69 0 0 72 16 18.1818 DCAF4L2 0 genome.wustl.edu 37 8 88885021 88885021 + Silent SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 8 88885021 88885021 G T SNP DCAF4L2 ENST00000319675 human ensembl 74_37 -1 known silent c.1179 p.S393 0.994 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L2 HGNC ENSG00000176566 33 0 0 56 7 11.1111 TSTD2 0 genome.wustl.edu 37 9 100380087 100380087 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 100380087 100380087 G T SNP TSTD2 ENST00000354801 human ensembl 74_37 -1 known missense c.7 p.L3M 0.987 NULL pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors TSTD2 HGNC ENSG00000136925 70 0 0 80 9 10.1124 HEMGN 0 genome.wustl.edu 37 9 100693288 100693288 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 100693288 100693288 T C SNP HEMGN ENST00000259456 human ensembl 74_37 -1 known missense c.389 p.E130G 0.009 NULL NULL - no_errors HEMGN HGNC ENSG00000136929 85 0 0 112 21 15.7895 CORO2A 0 genome.wustl.edu 37 9 100895424 100895424 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 100895424 100895424 C T SNP CORO2A ENST00000343933 human ensembl 74_37 -1 known missense c.544 p.V182M 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO2A HGNC ENSG00000106789 105 0 0 114 22 16.1765 TBC1D2 0 genome.wustl.edu 37 9 101014085 101014085 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 101014085 101014085 C T SNP TBC1D2 ENST00000375066 human ensembl 74_37 -1 known missense c.493 p.V165I 0.052 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D2 HGNC ENSG00000095383 85 0 0 85 13 13.2653 PPP3R2 0 genome.wustl.edu 37 9 104357023 104357023 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 104357023 104357023 C T SNP PPP3R2 ENST00000374806 human ensembl 74_37 -1 known missense c.190 p.V64I 1.000 pfam_EF_hand_dom,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 PPP3R2 HGNC ENSG00000188386 83 0 0 108 15 12.1951 SLC44A1 0 genome.wustl.edu 37 9 108126852 108126852 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 108126852 108126852 T C SNP SLC44A1 ENST00000374720 human ensembl 74_37 +1 known silent c.1104 p.N368 0.997 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A1 HGNC ENSG00000070214 122 0 0 171 25 12.7551 ZNF483 0 genome.wustl.edu 37 9 114304716 114304716 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 114304716 114304716 G T SNP ZNF483 ENST00000309235 human ensembl 74_37 +1 known missense c.1501 p.G501W 1.000 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 ZNF483 HGNC ENSG00000173258 41 0 0 42 4 8.69565 C9orf84 0 genome.wustl.edu 37 9 114453877 114453877 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 114453877 114453877 C T SNP C9orf84 ENST00000318737 human ensembl 74_37 -1 known silent c.4188 p.R1396 0.624 NULL superfamily_RuvA_2-like - no_errors C9orf84 HGNC ENSG00000165181 53 0 0 66 7 9.58904 ZFP37 0 genome.wustl.edu 37 9 115805249 115805249 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 115805249 115805249 C T SNP ZFP37 ENST00000553380 human ensembl 74_37 -1 known missense c.1694 p.C565Y 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 ZFP37 HGNC ENSG00000136866 57 0 0 85 19 18.2692 FOXD4 0 genome.wustl.edu 37 9 117579 117579 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 117579 117579 C T SNP FOXD4 ENST00000382500 human ensembl 74_37 -1 known missense c.541 p.D181N 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4 HGNC ENSG00000170122 713 0 0 814 44 5.12821 CNTRL 0 genome.wustl.edu 37 9 123903687 123903687 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 123903687 123903687 A G SNP CNTRL ENST00000238341 human ensembl 74_37 +1 known missense c.2512 p.K838E 1.000 superfamily_Prefoldin pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 86 0 0 67 12 15.1899 OR1L8 0 genome.wustl.edu 37 9 125330410 125330410 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 125330410 125330410 A G SNP OR1L8 ENST00000304865 human ensembl 74_37 -1 known missense c.347 p.L116P 0.021 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 OR1L8 HGNC ENSG00000171496 56 0 0 61 14 18.6667 OR1K1 0 genome.wustl.edu 37 9 125562752 125562752 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 125562752 125562752 G A SNP OR1K1 ENST00000277309 human ensembl 74_37 +1 known silent c.351 p.A117 0.705 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 OR1K1 HGNC ENSG00000165204 58 0 0 82 9 9.89011 NR5A1 0 genome.wustl.edu 37 9 127262453 127262453 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 127262453 127262453 G A SNP NR5A1 ENST00000373588 human ensembl 74_37 -1 known silent c.786 p.F262 0.997 superfamily_Nucl_hormone_rcpt_ligand-bd,pirsf_Steroidogenic_factor_1 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,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR5A1 HGNC ENSG00000136931 36 0 0 41 7 14.5833 RABEPK 0 genome.wustl.edu 37 9 127965332 127965332 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 127965332 127965332 A G SNP RABEPK ENST00000373538 human ensembl 74_37 +1 known missense c.40 p.R14G 0.998 NULL pfam_Kelch_2,pfam_Kelch_1 - no_errors RABEPK HGNC ENSG00000136933 80 0 0 75 7 8.53659 SPTAN1 0 genome.wustl.edu 37 9 131346761 131346761 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 131346761 131346761 G A SNP SPTAN1 ENST00000358161 human ensembl 74_37 +1 known silent c.2394 p.T798 0.004 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 33 0 0 54 7 11.4754 ZER1 0 genome.wustl.edu 37 9 131503159 131503159 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 131503159 131503159 G T SNP ZER1 ENST00000291900 human ensembl 74_37 -1 known missense c.1745 p.P582Q 1.000 superfamily_ARM-type_fold,smart_Armadillo superfamily_ARM-type_fold,smart_Armadillo - no_errors ZER1 HGNC ENSG00000160445 68 0 0 67 6 8.21918 LRRC8A 0 genome.wustl.edu 37 9 131671140 131671140 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 131671140 131671140 G A SNP LRRC8A ENST00000259324 human ensembl 74_37 +1 known missense c.1697 p.G566D 1.000 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8A HGNC ENSG00000136802 42 0 0 52 7 11.8644 NUP188 0 genome.wustl.edu 37 9 131764178 131764178 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 131764178 131764178 G A SNP NUP188 ENST00000372577 human ensembl 74_37 +1 known missense c.4060 p.A1354T 1.000 NULL pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 71 0 0 72 6 7.69231 MPDZ 0 genome.wustl.edu 37 9 13190239 13190239 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 13190239 13190239 C T SNP MPDZ ENST00000319217 human ensembl 74_37 -1 known silent c.2028 p.A676 0.000 superfamily_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 29 0 0 31 3 8.82353 TOR1A 0 genome.wustl.edu 37 9 132576463 132576463 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 132576463 132576463 T C SNP TOR1A ENST00000351698 human ensembl 74_37 -1 known missense c.787 p.I263V 1.000 superfamily_P-loop_NTPase,pirsf_Torsin_subgr pfam_Torsin,superfamily_P-loop_NTPase,pirsf_Torsin_subgr - no_errors TOR1A HGNC ENSG00000136827 91 0 0 117 22 15.8273 FUBP3 0 genome.wustl.edu 37 9 133501797 133501797 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 133501797 133501797 G A SNP FUBP3 ENST00000319725 human ensembl 74_37 +1 known missense c.1022 p.R341H 1.000 NULL pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FUBP3 HGNC ENSG00000107164 36 0 0 38 2 5 MED27 0 genome.wustl.edu 37 9 134955187 134955187 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 134955187 134955187 G A SNP MED27 ENST00000292035 human ensembl 74_37 -1 known silent c.45 p.S15 0.971 NULL pfam_Mediator_Med27 - no_errors MED27 HGNC ENSG00000160563 27 0 0 19 10 34.4828 RALGDS 0 genome.wustl.edu 37 9 135976954 135976954 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 135976954 135976954 G A SNP RALGDS ENST00000542690 human ensembl 74_37 -1 known missense c.2620 p.R874C 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RALGDS HGNC ENSG00000160271 107 0 0 167 20 10.6952 CAMSAP1 0 genome.wustl.edu 37 9 138714882 138714882 + Missense_Mutation SNP A A C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 138714882 138714882 A C SNP CAMSAP1 ENST00000409386 human ensembl 74_37 -1 known missense c.1658 p.L553R 0.988 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP1 HGNC ENSG00000130559 235 0 0 274 36 11.6129 LHX3 0 genome.wustl.edu 37 9 139091594 139091594 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 139091594 139091594 G A SNP LHX3 ENST00000371746 human ensembl 74_37 -1 known silent c.399 p.G133 0.041 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX3 HGNC ENSG00000107187 37 0 0 56 6 9.67742 PTGDS 0 genome.wustl.edu 37 9 139873455 139873455 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 139873455 139873455 G A SNP PTGDS ENST00000224167 human ensembl 74_37 +1 known missense c.125 p.R42H 0.802 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth - no_errors PTGDS HGNC ENSG00000107317 30 0 0 34 8 19.0476 ABCA2 0 genome.wustl.edu 37 9 139905912 139905912 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 139905912 139905912 C T SNP ABCA2 ENST00000265662 human ensembl 74_37 -1 known missense c.5746 p.G1916S 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ENSG00000107331 26 0 0 18 4 18.1818 MAN1B1 0 genome.wustl.edu 37 9 139983450 139983450 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 139983450 139983450 C T SNP MAN1B1 ENST00000371589 human ensembl 74_37 +1 known missense c.458 p.S153L 0.000 NULL pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1B1 HGNC ENSG00000177239 159 0 0 153 32 17.2973 FAM166A 0 genome.wustl.edu 37 9 140139864 140139864 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 140139864 140139864 G A SNP FAM166A ENST00000344774 human ensembl 74_37 -1 known silent c.417 p.C139 0.987 NULL pfam_UPF0573/UPF0605 - no_errors FAM166A HGNC ENSG00000188163 93 0 0 119 22 15.6028 PNPLA7 0 genome.wustl.edu 37 9 140437937 140437937 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 140437937 140437937 G A SNP PNPLA7 ENST00000406427 human ensembl 74_37 -1 known silent c.453 p.D151 0.955 NULL pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA7 HGNC ENSG00000130653 88 0 0 102 15 12.8205 ZMYND19 0 genome.wustl.edu 37 9 140482098 140482098 + RNA SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 140482098 140482098 G A SNP ZMYND19 ENST00000471957 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZMYND19 HGNC ENSG00000165724 52 0 0 65 10 13.3333 ADAMTSL1 0 genome.wustl.edu 37 9 18504847 18504847 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 18504847 18504847 C T SNP ADAMTSL1 ENST00000327883 human ensembl 74_37 +1 known silent c.84 p.S28 0.069 NULL pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL1 HGNC ENSG00000178031 86 0 0 144 25 14.7929 SLC24A2 0 genome.wustl.edu 37 9 19622274 19622274 + Missense_Mutation SNP A A C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 19622274 19622274 A C SNP SLC24A2 ENST00000341998 human ensembl 74_37 -1 known missense c.954 p.D318E 0.999 tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A2 HGNC ENSG00000155886 35 0 0 40 5 11.1111 TAF1L 0 genome.wustl.edu 37 9 32630586 32630586 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 32630586 32630586 C T SNP TAF1L ENST00000242310 human ensembl 74_37 -1 known silent c.4992 p.Q1664 0.998 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 183 0 0 199 26 11.5556 APTX 0 genome.wustl.edu 37 9 32987827 32987827 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 32987827 32987827 G T SNP APTX ENST00000480031 human ensembl 74_37 -1 known missense c.151 p.Q51K 1.000 NULL superfamily_SMAD_FHA_domain - no_errors APTX HGNC ENSG00000137074 41 0 0 35 8 18.6047 NFX1 0 genome.wustl.edu 37 9 33294992 33294992 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 33294992 33294992 G A SNP NFX1 ENST00000379540 human ensembl 74_37 +1 known silent c.600 p.P200 0.496 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 115 0 0 100 12 10.7143 NOL6 0 genome.wustl.edu 37 9 33468168 33468168 + Splice_Site SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 33468168 33468168 C A SNP NOL6 ENST00000455041 human ensembl 74_37 -1 known splice_site c.1129-1 e10-1 0.003 - - - no_errors NOL6 HGNC ENSG00000165271 42 0 0 60 8 11.7647 KIAA1161 0 genome.wustl.edu 37 9 34371970 34371970 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 34371970 34371970 G A SNP KIAA1161 ENST00000297625 human ensembl 74_37 -1 known silent c.870 p.Y290 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF - no_errors KIAA1161 HGNC ENSG00000164976 67 0 0 75 10 11.7647 ENHO 0 genome.wustl.edu 37 9 34521556 34521556 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 34521556 34521556 T C SNP ENHO ENST00000399775 human ensembl 74_37 -1 known silent c.138 p.E46 0.819 NULL NULL - no_errors ENHO HGNC ENSG00000168913 87 0 0 102 18 15 KIAA1045 0 genome.wustl.edu 37 9 34976565 34976565 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 34976565 34976565 A G SNP KIAA1045 ENST00000242315 human ensembl 74_37 +1 known missense c.677 p.Y226C 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors KIAA1045 HGNC ENSG00000122733 65 0 0 76 10 11.6279 RUSC2 0 genome.wustl.edu 37 9 35547473 35547473 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 35547473 35547473 G A SNP RUSC2 ENST00000361226 human ensembl 74_37 +1 known missense c.955 p.A319T 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 122 0 0 114 13 10.2362 GBA2 0 genome.wustl.edu 37 9 35737772 35737772 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 35737772 35737772 G A SNP GBA2 ENST00000545786 human ensembl 74_37 -1 known silent c.2496 p.Y832 0.221 pfam_Glucosylceramidase,superfamily_6-hairpin_glycosidase-like,pirsf_Beta_glucosidase_GBA2-type pfam_Glucosylceramidase,pfam_GBA2_N,superfamily_6-hairpin_glycosidase-like,pirsf_Beta_glucosidase_GBA2-type - no_errors GBA2 HGNC ENSG00000070610 80 0 0 101 12 10.6195 RGP1 0 genome.wustl.edu 37 9 35751682 35751682 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 35751682 35751682 T C SNP RGP1 ENST00000456972 human ensembl 74_37 +1 known silent c.813 p.S271 0.996 pfam_Rgp1 pfam_Rgp1 - no_errors RGP1 HGNC ENSG00000107185 82 0 0 93 12 11.4286 GNE 0 genome.wustl.edu 37 9 36246267 36246267 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 36246267 36246267 A G SNP GNE ENST00000396594 human ensembl 74_37 -1 known missense c.470 p.M157T 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 71 0 0 83 10 10.7527 SLC25A51 0 genome.wustl.edu 37 9 37888456 37888456 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 37888456 37888456 A G SNP SLC25A51 ENST00000242275 human ensembl 74_37 -1 known missense c.92 p.M31T 0.248 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 SLC25A51 HGNC ENSG00000122696 126 0 0 117 19 13.9706 CNTNAP3 0 genome.wustl.edu 37 9 39176052 39176052 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 39176052 39176052 C T SNP CNTNAP3 ENST00000297668 human ensembl 74_37 -1 known missense c.965 p.R322Q 0.118 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 100 0 0 109 14 11.3821 C9orf135 0 genome.wustl.edu 37 9 72435828 72435828 + Nonsense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 72435828 72435828 G A SNP C9orf135 ENST00000377197 human ensembl 74_37 +1 known nonsense c.33 p.W11* 0.001 NULL NULL - no_errors C9orf135 HGNC ENSG00000204711 56 0 0 47 8 14.5455 TRPM6 0 genome.wustl.edu 37 9 77354736 77354736 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 77354736 77354736 G A SNP TRPM6 ENST00000451710 human ensembl 74_37 -1 known missense c.5402 p.P1801L 0.990 pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 101 0 0 110 26 19.1176 PCSK5 0 genome.wustl.edu 37 9 78947371 78947371 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 78947371 78947371 C T SNP PCSK5 ENST00000545128 human ensembl 74_37 +1 known silent c.4512 p.C1504 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_EG-like_dom pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 50 0 0 65 11 14.4737 PRUNE2 0 genome.wustl.edu 37 9 79469112 79469112 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 79469112 79469112 G A SNP PRUNE2 ENST00000376718 human ensembl 74_37 -1 novel missense c.49 p.R17C 0.998 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,pfam_DHHA2,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 37 0 0 40 6 13.0435 TLE1 0 genome.wustl.edu 37 9 84205815 84205815 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 84205815 84205815 G A SNP TLE1 ENST00000376499 human ensembl 74_37 -1 known silent c.1734 p.Y578 0.998 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE1 HGNC ENSG00000196781 80 0 0 101 10 9.00901 SPATA31D1 0 genome.wustl.edu 37 9 84605984 84605984 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 84605984 84605984 T C SNP SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known missense c.599 p.L200P 0.000 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 73 0 0 82 15 15.4639 AUH 0 genome.wustl.edu 37 9 94060317 94060317 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 94060317 94060317 C T SNP AUH ENST00000375731 human ensembl 74_37 -1 known missense c.547 p.A183T 0.811 pfam_Crotonase_core_superfam pfam_Crotonase_core_superfam - no_errors AUH HGNC ENSG00000148090 62 0 0 54 6 10 IPPK 0 genome.wustl.edu 37 9 95410357 95410357 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 95410357 95410357 A G SNP IPPK ENST00000287996 human ensembl 74_37 -1 known missense c.488 p.M163T 1.000 pfam_Ins_P5_2-kin pfam_Ins_P5_2-kin - no_errors IPPK HGNC ENSG00000127080 19 0 0 18 3 14.2857 ENSG00000226668 0 genome.wustl.edu 37 9 95647601 95647601 + RNA SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 95647601 95647601 C A SNP ENSG00000226668 ENST00000446878 human ensembl 74_37 +1 putative rna NULL NULL 0.027 - - - no_errors RP11-526D8.7 Clone_based_vega_gene ENSG00000226668 162 0 0 185 29 13.5514 DMRT3 0 genome.wustl.edu 37 9 990066 990066 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 990066 990066 C T SNP DMRT3 ENST00000190165 human ensembl 74_37 +1 known silent c.480 p.D160 0.000 NULL pfam_DM_DNA-bd,pfam_DMA,superfamily_DM_DNA-bd,superfamily_UBA-like,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRT3 HGNC ENSG00000064218 91 0 0 87 11 11.2245 ZNF367 0 genome.wustl.edu 37 9 99160514 99160514 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 99160514 99160514 C T SNP ZNF367 ENST00000375256 human ensembl 74_37 -1 known missense c.503 p.R168H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF367 HGNC ENSG00000165244 191 0 0 227 34 13.0268 ENSG00000212884 0 genome.wustl.edu 37 GL000205.1 117491 117491 + Missense_Mutation SNP G G C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 GL000205.1 117491 117491 G C SNP ENSG00000212884 ENST00000391571 human ensembl 74_37 +1 known missense c.122 p.G41A NULL pfam_D-isomer_2_OHA_DH_cat_dom pfam_D-isomer_2_OHA_DH_cat_dom - no_errors AC011841.1 Clone_based_ensembl_gene ENSG00000212884 42 0 0 51 6 10.5263 BHLHB9 0 genome.wustl.edu 37 X 102005402 102005402 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 X 102005402 102005402 C T SNP BHLHB9 ENST00000361229 human ensembl 74_37 +1 known silent c.1479 p.I493 0.980 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors BHLHB9 HGNC ENSG00000198908 85 0 0 88 24 21.4286 PLP1 0 genome.wustl.edu 37 X 103041549 103041549 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 X 103041549 103041549 C T SNP PLP1 ENST00000303958 human ensembl 74_37 +1 known missense c.347 p.T116M 1.000 pfam_Myelin_PLP,prints_Myelin_PLP pfam_Myelin_PLP,smart_Myelin_PLP,prints_Myelin_PLP - no_errors PLP1 HGNC ENSG00000123560 103 0 0 84 20 19.2308 H2BFWT 0 genome.wustl.edu 37 X 103267317 103267317 + Silent SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 X 103267317 103267317 A G SNP H2BFWT ENST00000217926 human ensembl 74_37 -1 known silent c.495 p.T165 0.000 smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors H2BFWT HGNC ENSG00000123569 29 0 0 27 7 20.5882 NRK 0 genome.wustl.edu 37 X 105189887 105189887 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 X 105189887 105189887 C T SNP NRK ENST00000428173 human ensembl 74_37 +1 known silent c.4086 p.D1362 1.000 pfam_Citron,smart_Citron pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors NRK HGNC ENSG00000123572 28 0 0 35 7 16.6667 FRMPD3 0 genome.wustl.edu 37 X 106840635 106840635 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 X 106840635 106840635 G A SNP FRMPD3 ENST00000276185 human ensembl 74_37 +1 known missense c.1625 p.S542N 1.000 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD3 HGNC ENSG00000147234 45 0 0 61 7 10.2941 RBMX 0 genome.wustl.edu 37 X 135958813 135958813 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 X 135958813 135958813 A G SNP RBMX ENST00000464781 human ensembl 74_37 -1 known missense c.218 p.M73T 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMX HGNC ENSG00000147274 69 0 0 72 18 20 MAGEC1 0 genome.wustl.edu 37 X 140994236 140994236 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 X 140994236 140994236 C T SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known missense c.1046 p.T349I 0.024 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 119 0 0 129 42 24.5614 CSF2RA 0 genome.wustl.edu 37 X 1413254 1413254 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 X 1413254 1413254 G A SNP CSF2RA ENST00000417535 human ensembl 74_37 +1 known missense c.680 p.R227H 0.001 superfamily_Fibronectin_type3 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors CSF2RA HGNC ENSG00000198223 211 0 0 237 35 12.8676 SLC25A6 0 genome.wustl.edu 37 X 1508411 1508411 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 X 1508411 1508411 C T SNP SLC25A6 ENST00000381401 human ensembl 74_37 -1 known silent c.321 p.T107 0.955 superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor,prints_Mit_uncoupling - no_errors SLC25A6 HGNC ENSG00000169100 150 0 0 239 26 9.81132 MED14 0 genome.wustl.edu 37 X 40572274 40572274 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 X 40572274 40572274 G A SNP MED14 ENST00000324817 human ensembl 74_37 -1 known missense c.673 p.R225C 1.000 pfam_Mediator_Med14 pfam_Mediator_Med14 - no_errors MED14 HGNC ENSG00000180182 28 0 0 39 7 15.2174 PORCN 0 genome.wustl.edu 37 X 48374500 48374500 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 X 48374500 48374500 G A SNP PORCN ENST00000326194 human ensembl 74_37 +1 known missense c.1139 p.R380Q 0.929 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors PORCN HGNC ENSG00000102312 24 0 0 22 9 29.0323 KDM5C 0 genome.wustl.edu 37 X 53225096 53225096 + Splice_Site SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 X 53225096 53225096 A G SNP KDM5C ENST00000375401 human ensembl 74_37 -1 known splice_site c.3120+2 e20+2 1.000 - - - no_errors KDM5C HGNC ENSG00000126012 12 0 0 6 4 40 AR 0 genome.wustl.edu 37 X 66905888 66905888 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 X 66905888 66905888 G A SNP AR ENST00000374690 human ensembl 74_37 +1 known missense c.1805 p.C602Y 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 36 0 0 32 11 25.5814 CDX4 0 genome.wustl.edu 37 X 72667289 72667289 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 X 72667289 72667289 C T SNP CDX4 ENST00000373514 human ensembl 74_37 +1 known missense c.200 p.P67L 0.753 pfam_Caudal_activation_dom pfam_Caudal_activation_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors CDX4 HGNC ENSG00000131264 18 0 0 22 10 31.25 BRWD3 0 genome.wustl.edu 37 X 79978130 79978130 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 X 79978130 79978130 G A SNP BRWD3 ENST00000373275 human ensembl 74_37 -1 known missense c.1807 p.R603W 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 63 0 0 38 19 33.3333 RPS6KA6 0 genome.wustl.edu 37 X 83352808 83352808 + Nonsense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 X 83352808 83352808 C A SNP RPS6KA6 ENST00000262752 human ensembl 74_37 -1 known nonsense c.1825 p.G609* 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,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 RPS6KA6 HGNC ENSG00000072133 93 0 0 92 25 21.3675 SHROOM2 0 genome.wustl.edu 37 X 9864465 9864465 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 X 9864465 9864465 G A SNP SHROOM2 ENST00000380913 human ensembl 74_37 +1 known silent c.2517 p.T839 0.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 23 0 0 23 7 23.3333 KDM5D 0 genome.wustl.edu 37 Y 21869171 21869171 + Missense_Mutation SNP A A T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 Y 21869171 21869171 A T SNP KDM5D ENST00000541639 human ensembl 74_37 -1 known missense c.3954 p.D1318E 0.958 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,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 KDM5D HGNC ENSG00000012817 12 0 0 10 5 33.3333 RPS4Y1 0 genome.wustl.edu 37 Y 2713761 2713761 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 Y 2713761 2713761 C T SNP RPS4Y1 ENST00000250784 human ensembl 74_37 +1 known missense c.337 p.R113C 0.999 pfam_Ribosomal_S4e_central_region,pirsf_Ribosomal_S4e pfam_Ribosomal_S4e_central_region,pfam_Ribosomal_S4e_N,pfam_KOW,pfam_S4_RNA-bd,smart_S4_RNA-bd,pirsf_Ribosomal_S4e,pfscan_S4_RNA-bd - no_errors RPS4Y1 HGNC ENSG00000129824 24 0 0 21 6 22.2222 TBL1Y 0 genome.wustl.edu 37 Y 6954381 6954381 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 Y 6954381 6954381 C A SNP TBL1Y ENST00000346432 human ensembl 74_37 +1 known missense c.1203 p.S401R 0.998 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL1Y HGNC ENSG00000092377 16 0 0 13 10 43.4783 HIAT1 0 genome.wustl.edu 37 1 100534122 100534122 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 100534122 100534122 T - DEL HIAT1 ENST00000370152 human ensembl 74_37 +1 known frame_shift_del c.799 p.L269fs 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG - no_errors HIAT1 HGNC ENSG00000156875 102 1 0.970874 156 19 10.8571 APITD1-CORT 0 genome.wustl.edu 37 1 10511575 10511575 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 10511575 10511575 C - DEL APITD1-CORT ENST00000400900 human ensembl 74_37 +1 known frame_shift_del c.418 p.Q142fs 0.032 NULL pfam_Somatostatin/Cortistatin_C,superfamily_Histone-fold - no_errors APITD1-CORT HGNC ENSG00000251503 40 0 0 35 13 27.0833 RBM15 0 genome.wustl.edu 37 1 110882873 110882873 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 110882873 110882873 C - DEL RBM15 ENST00000369784 human ensembl 74_37 +1 known frame_shift_del c.846 p.P284fs 0.995 NULL pfam_SPOC_C,pfam_RRM_dom,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors RBM15 HGNC ENSG00000162775 167 0 0 182 17 8.54271 MXRA8 0 genome.wustl.edu 37 1 1290110 1290110 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 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 19 0 0 22 3 12 ITGA10 0 genome.wustl.edu 37 1 145534121 145534122 + Frame_Shift_Ins INS - - C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 145534121 145534122 - C INS ITGA10 ENST00000369304 human ensembl 74_37 +1 known frame_shift_ins c.1626_1627 p.Q544fs 0.372:0.420 NULL 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 ITGA10 HGNC ENSG00000143127 195 0 0 186 14 7 SV2A 0 genome.wustl.edu 37 1 149885018 149885019 + Frame_Shift_Ins INS - - C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 149885018 149885019 - C INS SV2A ENST00000369146 human ensembl 74_37 -1 known frame_shift_ins c.375_374 p.S127fs 0.774:0.877 tigrfam_SV2 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2A HGNC ENSG00000159164 120 0 0 154 19 10.9827 VPS45 0 genome.wustl.edu 37 1 150082514 150082515 + RNA DEL AA AA - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 150082514 150082515 AA - DEL VPS45 ENST00000484306 human ensembl 74_37 +1 known rna NULL NULL 0.965:0.973 - - - no_errors VPS45 HGNC ENSG00000136631 12 0 0 7 4 36.3636 KCNN3 0 genome.wustl.edu 37 1 154842106 154842106 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 154842106 154842106 G - DEL KCNN3 ENST00000271915 human ensembl 74_37 -1 novel frame_shift_del c.335 p.P112fs 0.918 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN3 HGNC ENSG00000143603 34 0 0 27 4 12.9032 EFNA4 0 genome.wustl.edu 37 1 155041387 155041388 + Frame_Shift_Ins INS - - G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 155041387 155041388 - G INS EFNA4 ENST00000368409 human ensembl 74_37 +1 known frame_shift_ins c.528_529 p.D178fs 0.934:0.930 NULL pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNA4 HGNC ENSG00000243364 60 0 0 70 10 12.5 GON4L 0 genome.wustl.edu 37 1 155823103 155823103 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 155823103 155823103 A - DEL GON4L ENST00000368331 human ensembl 74_37 -1 known frame_shift_del c.469 p.S157fs 0.909 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 173 0 0 201 24 10.6667 ARHGEF2 0 genome.wustl.edu 37 1 155920659 155920659 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 155920659 155920659 G - DEL ARHGEF2 ENST00000368315 human ensembl 74_37 -1 known frame_shift_del c.2667 p.A890fs 0.213 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF2 HGNC ENSG00000116584 101 0 0 128 7 5.18519 COPA 0 genome.wustl.edu 37 1 160295427 160295427 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 160295427 160295427 T - DEL COPA ENST00000368069 human ensembl 74_37 -1 known frame_shift_del c.512 p.N171fs 1.000 superfamily_WD40_repeat_dom,pirsf_Coatomer_asu,pfscan_WD40_repeat_dom pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors COPA HGNC ENSG00000122218 115 0 0 128 7 5.18519 NCSTN 0 genome.wustl.edu 37 1 160313199 160313199 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 160313199 160313199 G - DEL NCSTN ENST00000294785 human ensembl 74_37 +1 known frame_shift_del c.13 p.G6fs 0.915 NULL pfam_Nicastrin - no_errors NCSTN HGNC ENSG00000162736 27 0 0 31 6 16.2162 FBLIM1 0 genome.wustl.edu 37 1 16093879 16093879 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 16093879 16093879 C - DEL FBLIM1 ENST00000441801 human ensembl 74_37 +1 known frame_shift_del c.259 p.P88fs 0.001 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FBLIM1 HGNC ENSG00000162458 72 0 0 114 12 9.52381 ZBTB17 0 genome.wustl.edu 37 1 16268477 16268477 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 16268477 16268477 G - DEL ZBTB17 ENST00000375733 human ensembl 74_37 -1 known frame_shift_del c.2420 p.P807fs 0.252 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB17 HGNC ENSG00000116809 75 0 0 91 9 9 F5 0 genome.wustl.edu 37 1 169510826 169510827 + Frame_Shift_Ins INS - - G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 169510826 169510827 - G INS F5 ENST00000367797 human ensembl 74_37 -1 known frame_shift_ins c.3502_3501 p.T1167fs 0.000:0.005 NULL 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 248 0 0 246 30 10.8696 C1orf112 0 genome.wustl.edu 37 1 169790866 169790867 + Frame_Shift_Ins INS - - T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 169790866 169790867 - T INS C1orf112 ENST00000286031 human ensembl 74_37 +1 known frame_shift_ins c.749_750 p.A253fs 1.000:0.998 NULL NULL - no_errors C1orf112 HGNC ENSG00000000460 69 0 0 65 8 10.9589 TEX35 0 genome.wustl.edu 37 1 178489957 178489957 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 178489957 178489957 A - DEL TEX35 ENST00000319416 human ensembl 74_37 +1 known frame_shift_del c.491 p.T166fs 0.000 NULL NULL - no_errors TEX35 HGNC ENSG00000240021 65 0 0 51 10 16.3934 KCNT2 0 genome.wustl.edu 37 1 196311261 196311262 + Frame_Shift_Ins INS - - A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 196311261 196311262 - A INS KCNT2 ENST00000294725 human ensembl 74_37 -1 known frame_shift_ins c.1501_1500 p.A500fs 1.000:1.000 pfam_K_chnl_Ca-activ_BK_asu pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 65 0 0 80 9 10.1124 PLEKHA6 0 genome.wustl.edu 37 1 204228411 204228411 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 204228411 204228411 C - DEL PLEKHA6 ENST00000272203 human ensembl 74_37 -1 known frame_shift_del c.982 p.V328fs 0.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA6 HGNC ENSG00000143850 54 0 0 68 8 10.5263 CR1L 0 genome.wustl.edu 37 1 207850873 207850873 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 207850873 207850873 A - DEL CR1L ENST00000508064 human ensembl 74_37 +1 known frame_shift_del c.237 p.N81fs 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1L HGNC ENSG00000197721 158 0 0 183 24 11.5942 WNT9A 0 genome.wustl.edu 37 1 228111954 228111954 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 228111954 228111954 C - DEL WNT9A ENST00000272164 human ensembl 74_37 -1 known frame_shift_del c.500 p.G167fs 1.000 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt9a - no_errors WNT9A HGNC ENSG00000143816 160 0 0 194 26 11.8182 OBSCN 0 genome.wustl.edu 37 1 228444410 228444410 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 228444410 228444410 G - DEL OBSCN ENST00000422127 human ensembl 74_37 +1 known frame_shift_del c.4368 p.A1458fs 0.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 48 0 0 49 8 14.0351 SLC35F3 0 genome.wustl.edu 37 1 234444860 234444860 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 234444860 234444860 T - DEL SLC35F3 ENST00000366617 human ensembl 74_37 +1 known frame_shift_del c.415 p.F140fs 0.994 NULL pfam_DMT,pfam_Tpt_PEP_trans_dom,pfam_SLC35_F1/F2/F6 - no_errors SLC35F3 HGNC ENSG00000183780 73 0 0 83 13 13.5417 LYST 0 genome.wustl.edu 37 1 235969716 235969716 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 235969716 235969716 A - DEL LYST ENST00000389793 human ensembl 74_37 -1 known frame_shift_del c.2720 p.L907fs 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 62 0 0 78 14 15.2174 CHRM3 0 genome.wustl.edu 37 1 240072444 240072444 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 240072444 240072444 A - DEL CHRM3 ENST00000255380 human ensembl 74_37 +1 known frame_shift_del c.1693 p.K567fs 1.000 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 75 0 0 62 12 16.2162 LYPLA2 0 genome.wustl.edu 37 1 24119502 24119502 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 24119502 24119502 T - DEL LYPLA2 ENST00000374514 human ensembl 74_37 +1 known frame_shift_del c.83 p.L30fs 1.000 pfam_PLipase/COase/thioEstase pfam_PLipase/COase/thioEstase,pfam_AB_hydrolase_3 - no_errors LYPLA2 HGNC ENSG00000011009 186 0 0 190 28 12.844 OR2C3 0 genome.wustl.edu 37 1 247695192 247695193 + Frame_Shift_Ins INS - - A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 247695192 247695193 - A INS OR2C3 ENST00000366487 human ensembl 74_37 -1 known frame_shift_ins c.622_621 p.V207fs 0.007:0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2C3 HGNC ENSG00000196242 68 0 0 55 7 11.2903 WDTC1 0 genome.wustl.edu 37 1 27621108 27621108 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 27621108 27621108 G - DEL WDTC1 ENST00000319394 human ensembl 74_37 +1 known frame_shift_del c.861 p.E290fs 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDTC1 HGNC ENSG00000142784 45 0 0 37 7 15.9091 SPOCD1 0 genome.wustl.edu 37 1 32266159 32266159 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 32266159 32266159 C - DEL SPOCD1 ENST00000360482 human ensembl 74_37 -1 known frame_shift_del c.1485 p.Q496fs 0.001 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,superfamily_TFIIS_cen_dom,smart_TFS2M - no_errors SPOCD1 HGNC ENSG00000134668 16 0 0 26 3 10.3448 ZMPSTE24 0 genome.wustl.edu 37 1 40756543 40756543 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 40756543 40756543 T - DEL ZMPSTE24 ENST00000372759 human ensembl 74_37 +1 known frame_shift_del c.1077 p.L362fs 1.000 pfam_Peptidase_M48 pfam_Peptidase_M48 - no_errors ZMPSTE24 HGNC ENSG00000084073 55 0 0 40 19 32.2034 STIL 0 genome.wustl.edu 37 1 47717309 47717309 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 47717309 47717309 T - DEL STIL ENST00000371877 human ensembl 74_37 -1 known frame_shift_del c.3366 p.K1122fs 1.000 NULL NULL - no_errors STIL HGNC ENSG00000123473 147 1 0.675676 183 21 10.2941 TMEM59 0 genome.wustl.edu 37 1 54502396 54502396 + RNA DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 54502396 54502396 A - DEL TMEM59 ENST00000470395 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TMEM59 HGNC ENSG00000116209 20 0 0 15 3 16.6667 DOCK7 0 genome.wustl.edu 37 1 62941104 62941104 + RNA DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 62941104 62941104 A - DEL DOCK7 ENST00000467758 human ensembl 74_37 -1 known rna NULL NULL 0.057 - - - no_errors DOCK7 HGNC ENSG00000116641 26 0 0 14 4 22.2222 ROR1 0 genome.wustl.edu 37 1 64516359 64516359 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 64516359 64516359 C - DEL ROR1 ENST00000371079 human ensembl 74_37 +1 known frame_shift_del c.453 p.P153fs 0.406 pirsf_Tyr_kinase_rcpt_ROR pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors ROR1 HGNC ENSG00000185483 243 0 0 284 32 10.1266 ROR1 0 genome.wustl.edu 37 1 64608185 64608186 + Frame_Shift_Ins INS - - CA TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 64608185 64608186 - CA INS ROR1 ENST00000371079 human ensembl 74_37 +1 known frame_shift_ins c.1026_1027 p.T346fs 0.152:1.000 pirsf_Tyr_kinase_rcpt_ROR,pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors ROR1 HGNC ENSG00000185483 102 0 0 119 17 12.5 ZBTB48 0 genome.wustl.edu 37 1 6640765 6640765 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 6640765 6640765 G - DEL ZBTB48 ENST00000377674 human ensembl 74_37 +1 known frame_shift_del c.96 p.G34fs 0.980 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB48 HGNC ENSG00000204859 75 0 0 67 14 17.284 LPHN2 0 genome.wustl.edu 37 1 82447517 82447518 + Frame_Shift_Ins INS - - T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 82447517 82447518 - T INS LPHN2 ENST00000370717 human ensembl 74_37 +1 known frame_shift_ins c.3172_3173 p.L1059fs 1.000:1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors LPHN2 HGNC ENSG00000117114 255 0 0 334 40 10.6952 GBP7 0 genome.wustl.edu 37 1 89613321 89613322 + Frame_Shift_Ins INS - - C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 89613321 89613322 - C INS GBP7 ENST00000294671 human ensembl 74_37 -1 known frame_shift_ins c.1294_1293 p.H431fs 0.980:0.994 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP7 HGNC ENSG00000213512 125 1 0.793651 130 28 17.7215 CDC7 0 genome.wustl.edu 37 1 91977476 91977476 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 91977476 91977476 A - DEL CDC7 ENST00000234626 human ensembl 74_37 +1 known frame_shift_del c.568 p.K191fs 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,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 31 0 0 39 6 13.3333 DPYD 0 genome.wustl.edu 37 1 97771791 97771791 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 1 97771791 97771791 A - DEL DPYD ENST00000370192 human ensembl 74_37 -1 known frame_shift_del c.2121 p.F707fs 1.000 pfam_Dihydroorotate_DH_1_2,pfam_tRNA_hU_synthase,tigrfam_Dihydroorotate_DH 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 204 0 0 210 31 12.8631 PAX2 0 genome.wustl.edu 37 10 102587324 102587324 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 102587324 102587324 C - DEL PAX2 ENST00000428433 human ensembl 74_37 +1 known frame_shift_del c.1202 p.R403fs 1.000 pfam_Pax2_C pfam_Paired_dom,pfam_Pax2_C,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX2 HGNC ENSG00000075891 144 0 0 146 15 9.31677 C10orf118 0 genome.wustl.edu 37 10 115885658 115885658 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 115885658 115885658 T - DEL C10orf118 ENST00000369287 human ensembl 74_37 -1 known frame_shift_del c.2600 p.N867fs 1.000 NULL superfamily_Prefoldin - no_errors C10orf118 HGNC ENSG00000165813 56 0 0 57 7 10.9375 UPF2 0 genome.wustl.edu 37 10 12071203 12071204 + Frame_Shift_Ins INS - - AG TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 12071203 12071204 - AG INS UPF2 ENST00000356352 human ensembl 74_37 -1 known frame_shift_ins c.686_685 p.F229fs 1.000:1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors UPF2 HGNC ENSG00000151461 47 0 0 52 9 14.7541 CCDC3 0 genome.wustl.edu 37 10 12940430 12940431 + Frame_Shift_Ins INS - - G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 12940430 12940431 - G INS CCDC3 ENST00000378825 human ensembl 74_37 -1 known frame_shift_ins c.799_798 p.Y266fs 0.987:0.964 NULL NULL - no_errors CCDC3 HGNC ENSG00000151468 45 0 0 57 11 16.1765 CUBN 0 genome.wustl.edu 37 10 16967360 16967360 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 16967360 16967360 A - DEL CUBN ENST00000377833 human ensembl 74_37 -1 known frame_shift_del c.6526 p.C2176fs 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 73 0 0 78 14 15.2174 DNAJC1 0 genome.wustl.edu 37 10 22208818 22208818 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 22208818 22208818 T - DEL DNAJC1 ENST00000376980 human ensembl 74_37 -1 known frame_shift_del c.578 p.K193fs 1.000 NULL pfam_DnaJ_domain,pfam_SANT/Myb,superfamily_DnaJ_domain,superfamily_Homeodomain-like,smart_DnaJ_domain,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC1 HGNC ENSG00000136770 155 0 0 138 16 10.3896 KIAA1217 0 genome.wustl.edu 37 10 24832910 24832910 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 24832910 24832910 A - DEL KIAA1217 ENST00000376454 human ensembl 74_37 +1 known frame_shift_del c.4711 p.K1572fs 1.000 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 98 0 0 166 16 8.79121 ANKRD26 0 genome.wustl.edu 37 10 27329037 27329038 + Frame_Shift_Ins INS - - T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 27329037 27329038 - T INS ANKRD26 ENST00000436985 human ensembl 74_37 -1 known frame_shift_ins c.2280_2279 p.N760fs 0.000:0.000 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD26 HGNC ENSG00000107890 48 0 0 40 7 14.8936 RBP3 0 genome.wustl.edu 37 10 48390535 48390536 + Frame_Shift_Ins INS - - A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 48390535 48390536 - A INS RBP3 ENST00000224600 human ensembl 74_37 -1 known frame_shift_ins c.343_342 p.A114fs 0.000:0.000 pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd - no_errors RBP3 HGNC ENSG00000107618 168 0 0 166 12 6.74157 C10orf71 0 genome.wustl.edu 37 10 50530925 50530926 + Frame_Shift_Ins INS - - C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 50530925 50530926 - C INS C10orf71 ENST00000374144 human ensembl 74_37 +1 known frame_shift_ins c.335_336 p.K114fs 0.144:0.353 NULL NULL - no_errors C10orf71 HGNC ENSG00000177354 111 0 0 146 11 7.00637 DDX21 0 genome.wustl.edu 37 10 70719567 70719568 + Frame_Shift_Ins INS - - A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 70719567 70719568 - A INS DDX21 ENST00000354185 human ensembl 74_37 +1 known frame_shift_ins c.93_94 p.E33fs 0.457:0.741 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,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 DDX21 HGNC ENSG00000165732 40 0 0 40 7 14.8936 WAPAL 0 genome.wustl.edu 37 10 88259918 88259918 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 88259918 88259918 A - DEL WAPAL ENST00000298767 human ensembl 74_37 -1 known frame_shift_del c.1082 p.L361fs 1.000 NULL pfam_WAPL_prot,superfamily_ARM-type_fold - no_errors WAPAL HGNC ENSG00000062650 77 0 0 75 13 14.7727 FAM35A 0 genome.wustl.edu 37 10 88912390 88912390 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 88912390 88912390 A - DEL FAM35A ENST00000298786 human ensembl 74_37 +1 known frame_shift_del c.1279 p.T429fs 0.445 NULL NULL - no_errors FAM35A HGNC ENSG00000122376 70 0 0 75 8 9.63855 LARP4B 0 genome.wustl.edu 37 10 890939 890939 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 890939 890939 T - DEL LARP4B ENST00000316157 human ensembl 74_37 -1 known frame_shift_del c.487 p.T163fs 1.000 pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC ENSG00000107929 113 0 0 113 11 8.87097 IFIT1 0 genome.wustl.edu 37 10 91163033 91163033 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 91163033 91163033 A - DEL IFIT1 ENST00000371804 human ensembl 74_37 +1 known frame_shift_del c.1001 p.K336fs 0.004 pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT1 HGNC ENSG00000185745 65 0 0 73 9 10.9756 HTR7 0 genome.wustl.edu 37 10 92502258 92502258 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 92502258 92502258 T - DEL HTR7 ENST00000336152 human ensembl 74_37 -1 known frame_shift_del c.1421 p.K474fs 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT_7_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt - no_errors HTR7 HGNC ENSG00000148680 57 0 0 75 8 9.63855 IDE 0 genome.wustl.edu 37 10 94294479 94294479 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 94294479 94294479 A - DEL IDE ENST00000265986 human ensembl 74_37 -1 known frame_shift_del c.347 p.L116fs 1.000 pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors IDE HGNC ENSG00000119912 72 0 0 85 8 8.60215 HELLS 0 genome.wustl.edu 37 10 96352051 96352051 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 96352051 96352051 A - DEL HELLS ENST00000371332 human ensembl 74_37 +1 known frame_shift_del c.1971 p.R660fs 0.958 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELLS HGNC ENSG00000119969 35 0 0 49 13 20.9677 ENTPD1-AS1 0 genome.wustl.edu 37 10 97779109 97779109 + RNA DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 97779109 97779109 A - DEL ENTPD1-AS1 ENST00000458228 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ENTPD1-AS1 HGNC ENSG00000226688 61 0 0 70 13 15.6627 OPALIN 0 genome.wustl.edu 37 10 98115041 98115041 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 98115041 98115041 A - DEL OPALIN ENST00000371172 human ensembl 74_37 -1 known frame_shift_del c.10 p.S4fs 0.903 NULL NULL - no_errors OPALIN HGNC ENSG00000197430 94 0 0 101 10 9.00901 PI4K2A 0 genome.wustl.edu 37 10 99344577 99344577 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 10 99344577 99344577 C - DEL PI4K2A ENST00000555577 human ensembl 74_37 +1 known frame_shift_del c.117 p.P41fs 1.000 NULL pfam_PI3/4_kinase_cat_dom - no_errors PI4K2A HGNC ENSG00000155252 118 0 0 117 16 12.0301 CASP4 0 genome.wustl.edu 37 11 104825505 104825505 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 104825505 104825505 A - DEL CASP4 ENST00000444739 human ensembl 74_37 -1 known frame_shift_del c.231 p.F77fs 0.000 pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pirsf_Caspase_IL-1_beta,pfscan_CARD pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP4 HGNC ENSG00000196954 105 0 0 107 19 15.0794 SIK3 0 genome.wustl.edu 37 11 116733010 116733011 + Frame_Shift_Ins INS - - C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 116733010 116733011 - C INS SIK3 ENST00000375300 human ensembl 74_37 -1 known frame_shift_ins c.1993_1992 p.Q664fs 1.000:1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors SIK3 HGNC ENSG00000160584 192 0 0 198 23 10.4072 DSCAML1 0 genome.wustl.edu 37 11 117375668 117375668 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 117375668 117375668 G - DEL DSCAML1 ENST00000321322 human ensembl 74_37 -1 known frame_shift_del c.2333 p.P778fs 0.897 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 88 0 0 65 9 12.1622 BCL9L 0 genome.wustl.edu 37 11 118770651 118770652 + Frame_Shift_Ins INS - - G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 118770651 118770652 - G INS BCL9L ENST00000334801 human ensembl 74_37 -1 known frame_shift_ins c.3381_3380 p.P1128fs 0.988:0.996 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 33 0 0 37 7 15.9091 BCL9L 0 genome.wustl.edu 37 11 118773004 118773004 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 118773004 118773004 G - DEL BCL9L ENST00000334801 human ensembl 74_37 -1 known frame_shift_del c.1448 p.P483fs 0.845 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 166 1 0.598802 214 25 10.4603 CCDC153 0 genome.wustl.edu 37 11 119061043 119061043 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 119061043 119061043 G - DEL CCDC153 ENST00000415318 human ensembl 74_37 -1 known frame_shift_del c.599 p.P200fs 1.000 NULL superfamily_t-SNARE - no_errors CCDC153 HGNC ENSG00000248712 169 1 0.588235 161 17 9.55056 PTPN5 0 genome.wustl.edu 37 11 18765665 18765665 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 18765665 18765665 G - DEL PTPN5 ENST00000358540 human ensembl 74_37 -1 known frame_shift_del c.179 p.P60fs 0.827 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN5 HGNC ENSG00000110786 247 0 0 252 25 9.02527 SVIP 0 genome.wustl.edu 37 11 22848803 22848803 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 22848803 22848803 T - DEL SVIP ENST00000354193 human ensembl 74_37 -1 known frame_shift_del c.169 p.I57fs 0.987 NULL NULL - no_errors SVIP HGNC ENSG00000198168 187 0 0 176 14 7.36842 CCDC73 0 genome.wustl.edu 37 11 32635951 32635951 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 32635951 32635951 T - DEL CCDC73 ENST00000335185 human ensembl 74_37 -1 known frame_shift_del c.1913 p.N638fs 0.024 NULL NULL - no_errors CCDC73 HGNC ENSG00000186714 41 0 0 36 6 14.2857 QSER1 0 genome.wustl.edu 37 11 32997895 32997895 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 32997895 32997895 A - DEL QSER1 ENST00000399302 human ensembl 74_37 +1 known frame_shift_del c.5083 p.N1697fs 1.000 NULL NULL - no_errors QSER1 HGNC ENSG00000060749 48 0 0 44 7 13.7255 OR52R1 0 genome.wustl.edu 37 11 4825678 4825679 + In_Frame_Ins INS - - TGT TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 4825678 4825679 - TGT INS OR52R1 ENST00000380382 human ensembl 74_37 -1 known in_frame_ins c.170_169 p.57in_frame_insN 0.000:0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52R1 HGNC ENSG00000176937 95 0 0 149 9 5.6962 OR5B12 0 genome.wustl.edu 37 11 58207028 58207028 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 58207028 58207028 A - DEL OR5B12 ENST00000302572 human ensembl 74_37 -1 known frame_shift_del c.597 p.F199fs 0.000 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR5B12 HGNC ENSG00000172362 54 0 0 66 8 10.8108 FAM111B 0 genome.wustl.edu 37 11 58892377 58892378 + Frame_Shift_Del DEL AA AA - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 58892377 58892378 AA - DEL FAM111B ENST00000343597 human ensembl 74_37 +1 known frame_shift_del c.807_808 p.K272fs 0.000:0.000 NULL superfamily_Trypsin-like_Pept_dom - no_errors FAM111B HGNC ENSG00000189057 44 0 0 33 11 25 DTX4 0 genome.wustl.edu 37 11 58962827 58962827 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 58962827 58962827 C - DEL DTX4 ENST00000227451 human ensembl 74_37 +1 known frame_shift_del c.1521 p.G510fs 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 51 0 0 49 5 9.25926 TMEM132A 0 genome.wustl.edu 37 11 60701132 60701132 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 60701132 60701132 C - DEL TMEM132A ENST00000005286 human ensembl 74_37 +1 known frame_shift_del c.1478 p.L495fs 1.000 NULL NULL - no_errors TMEM132A HGNC ENSG00000006118 20 0 0 26 5 16.129 GANAB 0 genome.wustl.edu 37 11 62407174 62407174 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 62407174 62407174 A - DEL GANAB ENST00000346178 human ensembl 74_37 -1 known frame_shift_del c.68 p.L23fs 0.988 NULL pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom - no_errors GANAB HGNC ENSG00000089597 114 0 0 93 10 9.70874 C11orf48 0 genome.wustl.edu 37 11 62437477 62437479 + In_Frame_Del DEL CTT CTT - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 62437477 62437479 CTT - DEL C11orf48 ENST00000431002 human ensembl 74_37 -1 known in_frame_del c.27_25 p.K9in_frame_del 0.982:0.837:0.291 NULL NULL - no_errors C11orf48 HGNC ENSG00000162194 49 0 0 76 10 11.6279 SLC3A2 0 genome.wustl.edu 37 11 62649529 62649529 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 62649529 62649529 A - DEL SLC3A2 ENST00000377892 human ensembl 74_37 +1 known frame_shift_del c.985 p.K331fs 1.000 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom - no_errors SLC3A2 HGNC ENSG00000168003 82 0 0 90 13 12.6214 MALAT1 0 genome.wustl.edu 37 11 65269498 65269498 + RNA DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 65269498 65269498 T - DEL MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MALAT1 HGNC ENSG00000251562 29 0 0 31 5 13.8889 MYO7A 0 genome.wustl.edu 37 11 76873960 76873961 + Frame_Shift_Ins INS - - C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 76873960 76873961 - C INS MYO7A ENST00000409709 human ensembl 74_37 +1 known frame_shift_ins c.1616_1617 p.K542fs 0.998:0.302 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,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_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7A HGNC ENSG00000137474 185 0 0 210 27 11.3924 SLC36A4 0 genome.wustl.edu 37 11 92918940 92918940 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 92918940 92918940 A - DEL SLC36A4 ENST00000326402 human ensembl 74_37 -1 known frame_shift_del c.96 p.F32fs 0.905 NULL pfam_AA_transpt_TM - no_errors SLC36A4 HGNC ENSG00000180773 69 0 0 61 6 8.95522 AP2A2 0 genome.wustl.edu 37 11 970195 970195 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 11 970195 970195 A - DEL AP2A2 ENST00000332231 human ensembl 74_37 +1 known frame_shift_del c.163 p.K57fs 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A2 HGNC ENSG00000183020 117 0 0 169 33 16.3366 UTP20 0 genome.wustl.edu 37 12 101680157 101680157 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 101680157 101680157 T - DEL UTP20 ENST00000261637 human ensembl 74_37 +1 known frame_shift_del c.385 p.L131fs 1.000 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 260 0 0 258 25 8.83392 GUCY2C 0 genome.wustl.edu 37 12 14794043 14794045 + In_Frame_Del DEL AGA AGA - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 14794043 14794045 AGA - DEL GUCY2C ENST00000261170 human ensembl 74_37 -1 known in_frame_del c.2041_2039 p.F680in_frame_del 1.000:1.000:1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_A/G_cyclase,superfamily_Peripla_BP_I,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors GUCY2C HGNC ENSG00000070019 65 0 0 46 4 8 ALG10B 0 genome.wustl.edu 37 12 38714025 38714025 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 38714025 38714025 T - DEL ALG10B ENST00000308742 human ensembl 74_37 +1 known frame_shift_del c.432 p.F146fs 1.000 pfam_Alg10,pirsf_Alg10 pfam_Alg10,pirsf_Alg10 - no_errors ALG10B HGNC ENSG00000175548 136 0 0 169 23 11.9792 KIF21A 0 genome.wustl.edu 37 12 39745623 39745623 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 39745623 39745623 T - DEL KIF21A ENST00000395670 human ensembl 74_37 -1 known frame_shift_del c.1629 p.D544fs 1.000 superfamily_ARM-type_fold pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21A HGNC ENSG00000139116 82 0 0 90 8 8.16327 RAD51AP1 0 genome.wustl.edu 37 12 4653063 4653063 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 4653063 4653063 A - DEL RAD51AP1 ENST00000228843 human ensembl 74_37 +1 known frame_shift_del c.202 p.R70fs 0.997 NULL NULL - no_errors RAD51AP1 HGNC ENSG00000111247 38 0 0 43 8 15.6863 KMT2D 0 genome.wustl.edu 37 12 49445500 49445500 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 49445500 49445500 G - DEL KMT2D ENST00000301067 human ensembl 74_37 -1 known frame_shift_del c.1966 p.L656fs 0.001 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 70 0 0 78 9 10.3448 PRPF40B 0 genome.wustl.edu 37 12 50025258 50025258 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 50025258 50025258 C - DEL PRPF40B ENST00000548825 human ensembl 74_37 +1 known frame_shift_del c.159 p.M56fs 0.994 NULL pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors PRPF40B HGNC ENSG00000110844 151 0 0 172 27 13.5678 KRT81 0 genome.wustl.edu 37 12 52685157 52685157 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 52685157 52685157 G - DEL KRT81 ENST00000327741 human ensembl 74_37 -1 known frame_shift_del c.93 p.Y32fs 0.997 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT81 HGNC ENSG00000205426 23 0 0 25 4 13.7931 STAT6 0 genome.wustl.edu 37 12 57490454 57490455 + Frame_Shift_Ins INS - - C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 12 57490454 57490455 - C INS STAT6 ENST00000300134 human ensembl 74_37 -1 known frame_shift_ins c.2445_2444 p.G816fs 0.951:0.942 NULL 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 STAT6 HGNC ENSG00000166888 59 0 0 72 6 7.69231 TPP2 0 genome.wustl.edu 37 13 103249495 103249495 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 13 103249495 103249495 G - DEL TPP2 ENST00000376065 human ensembl 74_37 +1 known frame_shift_del c.107 p.V38fs 1.000 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel pfam_Peptidase_S8/S53_dom,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel - no_errors TPP2 HGNC ENSG00000134900 19 0 0 26 7 21.2121 TMEM255B 0 genome.wustl.edu 37 13 114514859 114514859 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 13 114514859 114514859 C - DEL TMEM255B ENST00000375353 human ensembl 74_37 +1 known frame_shift_del c.964 p.Y324fs 0.994 NULL NULL - no_errors TMEM255B HGNC ENSG00000184497 191 0 0 253 18 6.64207 BRCA2 0 genome.wustl.edu 37 13 32913836 32913837 + Frame_Shift_Ins INS - - A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 13 32913836 32913837 - A INS BRCA2 ENST00000380152 human ensembl 74_37 +1 known frame_shift_ins c.5344_5345 p.N1784fs 0.000:0.000 pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 67 0 0 77 7 8.33333 BRCA2 0 genome.wustl.edu 37 13 32954273 32954273 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 13 32954273 32954273 A - DEL BRCA2 ENST00000380152 human ensembl 74_37 +1 known frame_shift_del c.9247 p.T3085fs 1.000 pfam_BRCA2_OB_3,superfamily_NA-bd_OB-fold,pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 51 0 0 44 5 10.2041 GTF2F2 0 genome.wustl.edu 37 13 45781540 45781540 + RNA DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 13 45781540 45781540 T - DEL GTF2F2 ENST00000494087 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors GTF2F2 HGNC ENSG00000188342 16 0 0 23 6 20.6897 CKAP2 0 genome.wustl.edu 37 13 53049034 53049034 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 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 33 0 0 37 10 21.2766 PCDH8 0 genome.wustl.edu 37 13 53420216 53420216 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 13 53420216 53420216 C - DEL PCDH8 ENST00000377942 human ensembl 74_37 -1 known frame_shift_del c.2356 p.A786fs 0.988 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH8 HGNC ENSG00000136099 58 0 0 56 11 16.4179 PPP2R5C 0 genome.wustl.edu 37 14 102378890 102378891 + RNA INS - - GG TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 14 102378890 102378891 - GG INS PPP2R5C ENST00000556218 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors PPP2R5C HGNC ENSG00000078304 18 0 0 21 2 8.69565 SALL2 0 genome.wustl.edu 37 14 21993077 21993079 + In_Frame_Del DEL GAG GAG - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 14 21993077 21993079 GAG - DEL SALL2 ENST00000327430 human ensembl 74_37 -1 known in_frame_del c.785_783 p.S265in_frame_del 0.911:0.922:0.930 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL2 HGNC ENSG00000165821 40 0 0 54 6 10 BNIP3P1 0 genome.wustl.edu 37 14 28733890 28733890 + RNA DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 14 28733890 28733890 A - DEL BNIP3P1 ENST00000550043 human ensembl 74_37 +1 known rna NULL NULL 0.930 - - - no_errors BNIP3P1 HGNC ENSG00000197358 104 0 0 75 6 7.40741 NID2 0 genome.wustl.edu 37 14 52481919 52481919 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 14 52481919 52481919 G - DEL NID2 ENST00000216286 human ensembl 74_37 -1 known frame_shift_del c.3103 p.R1035fs 0.061 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,pfscan_Thyroglobulin_1 pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID2 HGNC ENSG00000087303 80 0 0 99 9 8.33333 DLGAP5 0 genome.wustl.edu 37 14 55650279 55650279 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 14 55650279 55650279 T - DEL DLGAP5 ENST00000247191 human ensembl 74_37 -1 known frame_shift_del c.431 p.K144fs 1.000 NULL pfam_GKAP - no_errors DLGAP5 HGNC ENSG00000126787 38 0 0 33 5 13.1579 JKAMP 0 genome.wustl.edu 37 14 59951744 59951744 + RNA DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 14 59951744 59951744 A - DEL JKAMP ENST00000557560 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors JKAMP HGNC ENSG00000050130 27 0 0 40 7 14.8936 SYNE2 0 genome.wustl.edu 37 14 64681100 64681100 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 14 64681100 64681100 C - DEL SYNE2 ENST00000358025 human ensembl 74_37 +1 known frame_shift_del c.19245 p.L6417fs 1.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 75 0 0 81 10 10.989 ZFP36L1 0 genome.wustl.edu 37 14 69256455 69256455 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 14 69256455 69256455 C - DEL ZFP36L1 ENST00000336440 human ensembl 74_37 -1 known frame_shift_del c.812 p.G271fs 0.994 NULL pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L1 HGNC ENSG00000185650 121 0 0 164 24 12.766 ELMSAN1 0 genome.wustl.edu 37 14 74205773 74205773 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 14 74205773 74205773 G - DEL ELMSAN1 ENST00000286523 human ensembl 74_37 -1 known frame_shift_del c.939 p.N314fs 0.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC ENSG00000156030 24 0 0 23 4 14.8148 LTBP2 0 genome.wustl.edu 37 14 74967607 74967607 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 14 74967607 74967607 G - DEL LTBP2 ENST00000261978 human ensembl 74_37 -1 known frame_shift_del c.5446 p.H1816fs 0.817 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP2 HGNC ENSG00000119681 78 0 0 95 6 5.94059 DLST 0 genome.wustl.edu 37 14 75359617 75359617 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 14 75359617 75359617 C - DEL DLST ENST00000334220 human ensembl 74_37 +1 known frame_shift_del c.523 p.P176fs 1.000 tigrfam_SucB pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,superfamily_Single_hybrid_motif,pfscan_Biotin_lipoyl,tigrfam_SucB - no_errors DLST HGNC ENSG00000119689 60 0 0 84 7 7.69231 PTPN21 0 genome.wustl.edu 37 14 88940113 88940113 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 14 88940113 88940113 T - DEL PTPN21 ENST00000328736 human ensembl 74_37 -1 known frame_shift_del c.2545 p.I849fs 0.995 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN21 HGNC ENSG00000070778 91 0 0 93 15 13.8889 BTBD7 0 genome.wustl.edu 37 14 93709015 93709015 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 14 93709015 93709015 T - DEL BTBD7 ENST00000334746 human ensembl 74_37 -1 known frame_shift_del c.3003 p.K1001fs 0.998 NULL pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD7 HGNC ENSG00000011114 160 0 0 198 22 10 ATG2B 0 genome.wustl.edu 37 14 96788614 96788614 + RNA DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 14 96788614 96788614 A - DEL ATG2B ENST00000488421 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ATG2B HGNC ENSG00000066739 54 0 0 51 11 17.7419 SNHG14 0 genome.wustl.edu 37 15 25304705 25304706 + Splice_Site INS - - A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 15 25304705 25304706 - A INS SNHG14 ENST00000549804 human ensembl 74_37 +1 known splice_site_ins c.NULL NULL 0.001:0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 165 1 0.60241 195 23 10.5505 ARHGAP11B 0 genome.wustl.edu 37 15 30927759 30927761 + In_Frame_Del DEL CAT CAT - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 CAT CAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 15 30927759 30927761 CAT - DEL ARHGAP11B ENST00000428041 human ensembl 74_37 +1 known in_frame_del c.730_732 p.H245in_frame_del 0.993:0.937:0.926 pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP11B HGNC ENSG00000187951 308 0 0 372 24 6.06061 CASC5 0 genome.wustl.edu 37 15 40917160 40917160 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 15 40917160 40917160 A - DEL CASC5 ENST00000346991 human ensembl 74_37 +1 known frame_shift_del c.4776 p.T1594fs 0.045 NULL NULL - no_errors CASC5 HGNC ENSG00000137812 66 0 0 89 10 10.101 TUBGCP4 0 genome.wustl.edu 37 15 43675661 43675661 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 15 43675661 43675661 G - DEL TUBGCP4 ENST00000260383 human ensembl 74_37 +1 known frame_shift_del c.682 p.G229fs 1.000 pfam_TUBGCP pfam_TUBGCP - no_errors TUBGCP4 HGNC ENSG00000137822 62 0 0 69 6 8 NARG2 0 genome.wustl.edu 37 15 60745782 60745782 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 15 60745782 60745782 A - DEL NARG2 ENST00000561114 human ensembl 74_37 -1 putative frame_shift_del c.1145 p.F382fs 0.000 NULL NULL - no_errors NARG2 HGNC ENSG00000128915 42 0 0 26 15 36.5854 HERC1 0 genome.wustl.edu 37 15 63972743 63972743 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 15 63972743 63972743 T - DEL HERC1 ENST00000443617 human ensembl 74_37 -1 known frame_shift_del c.6458 p.N2153fs 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY 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 55 0 0 39 7 15.2174 ZNF609 0 genome.wustl.edu 37 15 64967247 64967247 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 15 64967247 64967247 A - DEL ZNF609 ENST00000326648 human ensembl 74_37 +1 known frame_shift_del c.2194 p.K734fs 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF609 HGNC ENSG00000180357 193 0 0 207 35 14.4628 SPESP1 0 genome.wustl.edu 37 15 69238875 69238875 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 15 69238875 69238875 A - DEL SPESP1 ENST00000310673 human ensembl 74_37 +1 known frame_shift_del c.1002 p.N336fs 0.872 NULL NULL - no_errors SPESP1 HGNC ENSG00000258484 64 0 0 95 8 7.76699 HCN4 0 genome.wustl.edu 37 15 73616127 73616127 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 15 73616127 73616127 G - DEL HCN4 ENST00000261917 human ensembl 74_37 -1 known frame_shift_del c.2307 p.T770fs 1.000 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,pfscan_cNMP-bd_dom - no_errors HCN4 HGNC ENSG00000138622 57 0 0 74 11 12.9412 MEX3B 0 genome.wustl.edu 37 15 82336174 82336174 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 15 82336174 82336174 C - DEL MEX3B ENST00000329713 human ensembl 74_37 -1 known frame_shift_del c.1037 p.G346fs 0.717 NULL pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3B HGNC ENSG00000183496 114 0 0 121 14 10.3704 POLG 0 genome.wustl.edu 37 15 89862465 89862468 + Frame_Shift_Del DEL GCAG GCAG - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 GCAG GCAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 15 89862465 89862468 GCAG - DEL POLG ENST00000268124 human ensembl 74_37 -1 known frame_shift_del c.3098_3095 p.T1032fs 0.392:0.383:0.490:0.999 pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt - no_errors POLG HGNC ENSG00000140521 40 0 0 48 5 9.43396 RSL1D1 0 genome.wustl.edu 37 16 11931680 11931680 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 11931680 11931680 T - DEL RSL1D1 ENST00000571133 human ensembl 74_37 -1 known frame_shift_del c.1437 p.K479fs 0.004 NULL pfam_Ribosomal_L1/biogenesis,superfamily_Ribosomal_L1-like - no_errors RSL1D1 HGNC ENSG00000171490 250 0 0 271 45 14.2405 ENSG00000234719 0 genome.wustl.edu 37 16 12027375 12027376 + Frame_Shift_Ins INS - - T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 12027375 12027376 - T INS ENSG00000234719 ENST00000399147 human ensembl 74_37 -1 putative frame_shift_ins c.487_486 p.Q162fs 0.260:0.261 NULL NULL - no_errors RP11-166B2.1 Clone_based_vega_gene ENSG00000234719 102 0 0 97 15 13.3929 PTX4 0 genome.wustl.edu 37 16 1536186 1536186 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 1536186 1536186 G - DEL PTX4 ENST00000447419 human ensembl 74_37 -1 known frame_shift_del c.1191 p.G398fs 0.011 pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors PTX4 HGNC ENSG00000251692 38 0 0 57 9 13.6364 MYH11 0 genome.wustl.edu 37 16 15802686 15802687 + Frame_Shift_Ins INS - - G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 15802686 15802687 - G INS MYH11 ENST00000452625 human ensembl 74_37 -1 known frame_shift_ins c.5820_5819 p.Q1941fs 1.000:1.000 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH11 HGNC ENSG00000133392 43 0 0 14 4 22.2222 ABCC1 0 genome.wustl.edu 37 16 16101774 16101774 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 16101774 16101774 C - DEL ABCC1 ENST00000399408 human ensembl 74_37 +1 known frame_shift_del c.150 p.F52fs 1.000 tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC1 HGNC ENSG00000103222 114 0 0 124 14 10.1449 ACSM3 0 genome.wustl.edu 37 16 20796371 20796371 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 20796371 20796371 A - DEL ACSM3 ENST00000289416 human ensembl 74_37 +1 known frame_shift_del c.1085 p.K363fs 0.999 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM3 HGNC ENSG00000005187 112 0 0 104 18 14.7541 PLK1 0 genome.wustl.edu 37 16 23698897 23698898 + Frame_Shift_Del DEL CA CA - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 23698897 23698898 CA - DEL PLK1 ENST00000300093 human ensembl 74_37 +1 known frame_shift_del c.1144_1145 p.H382fs 0.271:0.277 NULL pfam_Prot_kinase_dom,pfam_POLO_box_duplicated_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_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK1 HGNC ENSG00000166851 160 1 0.621118 162 21 11.4754 ATXN2L 0 genome.wustl.edu 37 16 28847350 28847350 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 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 118 0 0 128 14 9.85915 FBXL19 0 genome.wustl.edu 37 16 30938664 30938665 + Frame_Shift_Ins INS - - G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 30938664 30938665 - G INS FBXL19 ENST00000380310 human ensembl 74_37 +1 known frame_shift_ins c.273_274 p.E92fs 1.000:1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Znf_CXXC,pfam_F-box_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors FBXL19 HGNC ENSG00000099364 8 0 0 13 2 13.3333 CTCF 0 genome.wustl.edu 37 16 67645338 67645339 + Frame_Shift_Ins INS - - A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 67645338 67645339 - A INS CTCF ENST00000264010 human ensembl 74_37 +1 known frame_shift_ins c.603_604 p.T203fs 1.000:1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCF HGNC ENSG00000102974 76 0 0 79 5 5.95238 DPEP2 0 genome.wustl.edu 37 16 68026098 68026099 + Splice_Site INS - - G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 68026098 68026099 - G INS DPEP2 ENST00000393847 human ensembl 74_37 -1 known splice_site_ins c.391-3_391-2 e3-2 1.000:0.999 - - - no_errors DPEP2 HGNC ENSG00000167261 103 0 0 89 12 11.8812 WDR59 0 genome.wustl.edu 37 16 74976691 74976691 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 74976691 74976691 T - DEL WDR59 ENST00000262144 human ensembl 74_37 -1 known frame_shift_del c.479 p.N160fs 0.999 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_UBQ-conjugating_enzyme/RWD,smart_WD40_repeat,smart_RWD-domain,pfscan_RWD-domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR59 HGNC ENSG00000103091 50 0 0 71 8 10.1266 ZDHHC7 0 genome.wustl.edu 37 16 85010039 85010039 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 85010039 85010039 G - DEL ZDHHC7 ENST00000344861 human ensembl 74_37 -1 known frame_shift_del c.948 p.S317fs 0.902 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC7 HGNC ENSG00000153786 76 0 0 72 7 8.86076 USP7 0 genome.wustl.edu 37 16 8993506 8993508 + In_Frame_Del DEL ATC ATC - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 ATC ATC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 16 8993506 8993508 ATC - DEL USP7 ENST00000344836 human ensembl 74_37 -1 known in_frame_del c.2418_2416 p.D806in_frame_del 0.997:1.000:1.000 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 92 0 0 87 9 9.375 TSR1 0 genome.wustl.edu 37 17 2227499 2227500 + Frame_Shift_Ins INS - - C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 2227499 2227500 - C INS TSR1 ENST00000301364 human ensembl 74_37 -1 known frame_shift_ins c.2406_2405 p.M803fs 0.975:0.996 NULL pfam_BMS1_TSR1_C,pfam_AARP2CN,superfamily_Transl_B-barrel,smart_AARP2CN - no_errors TSR1 HGNC ENSG00000167721 168 0 0 207 16 7.17489 TMEM97 0 genome.wustl.edu 37 17 26653807 26653807 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 26653807 26653807 A - DEL TMEM97 ENST00000226230 human ensembl 74_37 +1 known frame_shift_del c.519 p.K176fs 1.000 pirsf_Transmembrane_6/97 pfam_Transmembrane_6/97,pirsf_Transmembrane_6/97 - no_errors TMEM97 HGNC ENSG00000109084 58 0 0 59 13 18.0556 SEZ6 0 genome.wustl.edu 37 17 27296914 27296914 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 27296914 27296914 C - DEL SEZ6 ENST00000317338 human ensembl 74_37 -1 known frame_shift_del c.915 p.P306fs 0.497 superfamily_CUB_dom pfam_Sushi_SCR_CCP,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_CUB_dom,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6 HGNC ENSG00000063015 45 0 0 49 10 16.9492 SLFN12 0 genome.wustl.edu 37 17 33749957 33749957 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 33749957 33749957 T - DEL SLFN12 ENST00000304905 human ensembl 74_37 -1 known frame_shift_del c.91 p.M31fs 0.005 NULL pfam_ATPase_AAA-4 - no_errors SLFN12 HGNC ENSG00000172123 125 0 0 177 27 13.2353 GAS2L2 0 genome.wustl.edu 37 17 34077135 34077135 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 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 39 0 0 39 6 13.3333 STAT5B 0 genome.wustl.edu 37 17 40370236 40370236 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 40370236 40370236 G - DEL STAT5B ENST00000293328 human ensembl 74_37 -1 known frame_shift_del c.1102 p.Q368fs 1.000 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5B HGNC ENSG00000173757 83 0 0 48 11 18.6441 EZH1 0 genome.wustl.edu 37 17 40874914 40874914 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 40874914 40874914 A - DEL EZH1 ENST00000428826 human ensembl 74_37 -1 known frame_shift_del c.386 p.L129fs 1.000 NULL pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom - no_errors EZH1 HGNC ENSG00000108799 144 0 0 151 27 15.1685 SP2 0 genome.wustl.edu 37 17 45993940 45993940 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 45993940 45993940 C - DEL SP2 ENST00000376741 human ensembl 74_37 +1 known frame_shift_del c.503 p.S170fs 0.998 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP2 HGNC ENSG00000167182 63 0 0 62 9 12.6761 NFE2L1 0 genome.wustl.edu 37 17 46135788 46135788 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 46135788 46135788 G - DEL NFE2L1 ENST00000362042 human ensembl 74_37 +1 known frame_shift_del c.1104 p.G370fs 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L1 HGNC ENSG00000082641 119 0 0 144 10 6.49351 HOXB3 0 genome.wustl.edu 37 17 46629737 46629737 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 46629737 46629737 G - DEL HOXB3 ENST00000311626 human ensembl 74_37 -1 known frame_shift_del c.100 p.Q34fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB3 HGNC ENSG00000120093 64 0 0 63 10 13.6986 XYLT2 0 genome.wustl.edu 37 17 48433967 48433967 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 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 84 0 0 94 22 18.9655 C17orf58 0 genome.wustl.edu 37 17 65989061 65989061 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 65989061 65989061 A - DEL C17orf58 ENST00000334461 human ensembl 74_37 -1 known frame_shift_del c.202 p.W68fs 0.000 NULL NULL - no_errors C17orf58 HGNC ENSG00000186665 79 0 0 87 16 15.534 ABCA9 0 genome.wustl.edu 37 17 66986022 66986022 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 66986022 66986022 T - DEL ABCA9 ENST00000340001 human ensembl 74_37 -1 known frame_shift_del c.3887 p.K1296fs 0.975 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA9 HGNC ENSG00000154258 61 0 0 90 9 9.09091 SRSF2 0 genome.wustl.edu 37 17 74732342 74732343 + In_Frame_Ins INS - - GACCGA TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 74732342 74732343 - GACCGA INS SRSF2 ENST00000359995 human ensembl 74_37 -1 known in_frame_ins c.567_566 p.192in_frame_insRS 0.982:1.000 NULL pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF2 HGNC ENSG00000161547 84 0 0 121 8 6.20155 WRAP53 0 genome.wustl.edu 37 17 7606715 7606715 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 7606715 7606715 G - DEL WRAP53 ENST00000316024 human ensembl 74_37 +1 known frame_shift_del c.1558 p.A522fs 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WRAP53 HGNC ENSG00000141499 89 0 0 99 13 11.6071 ARHGDIA 0 genome.wustl.edu 37 17 79826767 79826769 + In_Frame_Del DEL CTT CTT - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 17 79826767 79826769 CTT - DEL ARHGDIA ENST00000269321 human ensembl 74_37 -1 known in_frame_del c.600_598 p.K200in_frame_del 1.000:1.000:1.000 pfam_Rho_GDI,superfamily_Ig_E-set pfam_Rho_GDI,superfamily_Ig_E-set,prints_Rho_GDI - no_errors ARHGDIA HGNC ENSG00000141522 69 0 0 77 8 9.41176 OSBPL1A 0 genome.wustl.edu 37 18 21745097 21745097 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 18 21745097 21745097 T - DEL OSBPL1A ENST00000319481 human ensembl 74_37 -1 known frame_shift_del c.2682 p.K894fs 0.958 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt - no_errors OSBPL1A HGNC ENSG00000141447 155 0 0 178 24 11.8812 CCDC178 0 genome.wustl.edu 37 18 30913143 30913143 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 18 30913143 30913143 T - DEL CCDC178 ENST00000406524 human ensembl 74_37 -1 known frame_shift_del c.874 p.M292fs 0.000 NULL NULL - no_errors CCDC178 HGNC ENSG00000166960 39 0 0 39 8 17.0213 WDR7 0 genome.wustl.edu 37 18 54358513 54358513 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 18 54358513 54358513 G - DEL WDR7 ENST00000254442 human ensembl 74_37 +1 known frame_shift_del c.784 p.D264fs 1.000 superfamily_Quinonprotein_ADH-like_supfam pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 104 0 0 133 15 10.1351 KIAA1468 0 genome.wustl.edu 37 18 59895753 59895754 + Frame_Shift_Ins INS - - C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 18 59895753 59895754 - C INS KIAA1468 ENST00000256858 human ensembl 74_37 +1 known frame_shift_ins c.1370_1371 p.R459fs 0.543:0.435 NULL pfam_HEAT,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_HEAT_type_2,pfscan_LisH_dimerisation - no_errors KIAA1468 HGNC ENSG00000134444 53 0 0 65 8 10.9589 C19orf26 0 genome.wustl.edu 37 19 1231045 1231046 + Frame_Shift_Ins INS - - G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 1231045 1231046 - G INS C19orf26 ENST00000590083 human ensembl 74_37 -1 known frame_shift_ins c.1209_1208 p.S404fs 0.004:0.004 NULL NULL - no_errors C19orf26 HGNC ENSG00000099625 45 0 0 49 7 12.5 NOTCH3 0 genome.wustl.edu 37 19 15290896 15290896 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 15290896 15290896 C - DEL NOTCH3 ENST00000263388 human ensembl 74_37 -1 known frame_shift_del c.3314 p.G1105fs 1.000 pirsf_Notch,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 59 0 0 48 7 12.7273 CPAMD8 0 genome.wustl.edu 37 19 17039883 17039884 + Frame_Shift_Ins INS - - C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 17039883 17039884 - C INS CPAMD8 ENST00000443236 human ensembl 74_37 -1 known frame_shift_ins c.3154_3153 p.H1051fs 0.994:0.361 pfam_Methyltransf_FA 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 36 0 0 39 7 15.2174 SUGP2 0 genome.wustl.edu 37 19 19115314 19115314 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 19115314 19115314 G - DEL SUGP2 ENST00000337018 human ensembl 74_37 -1 known frame_shift_del c.2592 p.V865fs 0.000 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 82 0 0 147 11 6.96203 CSNK1G2 0 genome.wustl.edu 37 19 1969882 1969882 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 1969882 1969882 G - DEL CSNK1G2 ENST00000255641 human ensembl 74_37 +1 known frame_shift_del c.111 p.V39fs 0.105 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Casein_kinase-1_gamma_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK1G2 HGNC ENSG00000133275 44 0 0 45 8 15.0943 AMH 0 genome.wustl.edu 37 19 2249675 2249676 + Frame_Shift_Del DEL TA TA - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 2249675 2249676 TA - DEL AMH ENST00000221496 human ensembl 74_37 +1 known frame_shift_del c.344_345 p.L115fs 0.585:0.575 pfam_AMH_N,pirsf_Muellerian-inhibiting_factor pfam_AMH_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_Muellerian-inhibiting_factor - no_errors AMH HGNC ENSG00000104899 10 0 0 7 3 30 DMKN 0 genome.wustl.edu 37 19 35989795 35989795 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 35989795 35989795 C - DEL DMKN ENST00000339686 human ensembl 74_37 -1 known frame_shift_del c.1364 p.G455fs 0.018 NULL NULL - no_errors DMKN HGNC ENSG00000161249 96 0 0 87 9 9.375 KMT2B 0 genome.wustl.edu 37 19 36210763 36210764 + Frame_Shift_Ins INS - - C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 36210763 36210764 - C INS KMT2B ENST00000222270 human ensembl 74_37 +1 known frame_shift_ins c.514_515 p.K176fs 0.976:0.976 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 103 0 0 109 17 13.4921 MRPL54 0 genome.wustl.edu 37 19 3765186 3765186 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 3765186 3765186 A - DEL MRPL54 ENST00000330133 human ensembl 74_37 +1 known frame_shift_del c.141 p.G49fs 0.920 NULL pfam_Ribosomal_L37_mit - no_errors MRPL54 HGNC ENSG00000183617 50 0 0 46 7 13.2075 PSMC4 0 genome.wustl.edu 37 19 40480654 40480654 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 40480654 40480654 C - DEL PSMC4 ENST00000157812 human ensembl 74_37 +1 known frame_shift_del c.592 p.R200fs 0.996 superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC4 HGNC ENSG00000013275 40 0 0 65 11 14.4737 TEAD2 0 genome.wustl.edu 37 19 49850473 49850473 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 49850473 49850473 G - DEL TEAD2 ENST00000311227 human ensembl 74_37 -1 known frame_shift_del c.883 p.H295fs 0.961 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD2 HGNC ENSG00000074219 305 1 0.326797 292 69 19.1136 ZNF701 0 genome.wustl.edu 37 19 53086002 53086002 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 53086002 53086002 A - DEL ZNF701 ENST00000301093 human ensembl 74_37 +1 known frame_shift_del c.888 p.K298fs 0.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF701 HGNC ENSG00000167562 66 0 0 68 13 16.0494 OSCAR 0 genome.wustl.edu 37 19 54600445 54600445 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 54600445 54600445 G - DEL OSCAR ENST00000356532 human ensembl 74_37 -1 known frame_shift_del c.89 p.P30fs 0.994 NULL smart_Ig_sub - no_errors OSCAR HGNC ENSG00000170909 84 0 0 81 10 10.989 SAFB2 0 genome.wustl.edu 37 19 5600224 5600224 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 5600224 5600224 T - DEL SAFB2 ENST00000252542 human ensembl 74_37 -1 known frame_shift_del c.1607 p.K536fs 0.350 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SAFB2 HGNC ENSG00000130254 60 0 0 71 11 13.4146 ZNF358 0 genome.wustl.edu 37 19 7584517 7584517 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 7584517 7584517 C - DEL ZNF358 ENST00000394341 human ensembl 74_37 +1 known frame_shift_del c.389 p.Q132fs 0.845 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF358 HGNC ENSG00000198816 92 0 0 92 11 10.6796 OR7E24 0 genome.wustl.edu 37 19 9362217 9362217 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 19 9362217 9362217 T - DEL OR7E24 ENST00000456448 human ensembl 74_37 +1 known frame_shift_del c.498 p.F168fs 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7E24 HGNC ENSG00000237521 36 0 0 38 7 15.5556 SLC9A2 0 genome.wustl.edu 37 2 103324746 103324746 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 103324746 103324746 C - DEL SLC9A2 ENST00000233969 human ensembl 74_37 +1 known frame_shift_del c.2237 p.P748fs 0.000 prints_Na/H_exchanger_2 pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A2 HGNC ENSG00000115616 207 0 0 212 17 7.42358 FBLN7 0 genome.wustl.edu 37 2 112940399 112940399 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 112940399 112940399 G - DEL FBLN7 ENST00000331203 human ensembl 74_37 +1 known frame_shift_del c.702 p.R236fs 0.997 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP - no_errors FBLN7 HGNC ENSG00000144152 90 0 0 107 9 7.75862 MAP3K2 0 genome.wustl.edu 37 2 128096511 128096511 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 128096511 128096511 T - DEL MAP3K2 ENST00000344908 human ensembl 74_37 -1 known frame_shift_del c.120 p.K40fs 0.721 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K2 HGNC ENSG00000169967 18 0 0 12 4 25 ACVR2A 0 genome.wustl.edu 37 2 148657041 148657041 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 148657041 148657041 A - DEL ACVR2A ENST00000241416 human ensembl 74_37 +1 known frame_shift_del c.278 p.D96fs 1.000 pfam_Activin_rcpt,prints_TGFB_receptor pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2A HGNC ENSG00000121989 103 0 0 116 13 10.0775 RBM43 0 genome.wustl.edu 37 2 152108088 152108088 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 152108088 152108088 T - DEL RBM43 ENST00000331426 human ensembl 74_37 -1 known frame_shift_del c.406 p.I136fs 0.959 NULL pfscan_RRM_dom - no_errors RBM43 HGNC ENSG00000184898 129 0 0 147 32 17.8771 IFIH1 0 genome.wustl.edu 37 2 163134716 163134716 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 163134716 163134716 T - DEL IFIH1 ENST00000263642 human ensembl 74_37 -1 known frame_shift_del c.1764 p.A589fs 1.000 superfamily_P-loop_NTPase,superfamily_ARM-type_fold pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_CARD,superfamily_P-loop_NTPase,superfamily_DEATH-like_dom,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors IFIH1 HGNC ENSG00000115267 53 0 0 50 8 13.7931 COBLL1 0 genome.wustl.edu 37 2 165551296 165551297 + Frame_Shift_Del DEL AA AA - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 165551296 165551297 AA - DEL COBLL1 ENST00000194871 human ensembl 74_37 -1 known frame_shift_del c.2921_2920 p.L974fs 0.972:0.886 NULL pfam_Cordon-bleu_ubiquitin_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 56 0 0 58 8 12.1212 PPIG 0 genome.wustl.edu 37 2 170460581 170460581 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 170460581 170460581 T - DEL PPIG ENST00000260970 human ensembl 74_37 +1 known frame_shift_del c.30 p.F12fs 1.000 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIG HGNC ENSG00000138398 46 0 0 69 8 10.3896 SSB 0 genome.wustl.edu 37 2 170665008 170665008 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 170665008 170665008 A - DEL SSB ENST00000260956 human ensembl 74_37 +1 known frame_shift_del c.571 p.N193fs 1.000 NULL pfam_RRM_3,pfam_Lupus_La_RNA-bd,pfam_RRM_dom,smart_Lupus_La_RNA-bd,smart_RRM_dom,pfscan_Lupus_La_RNA-bd,pfscan_RRM_dom,prints_Lupus_La - no_errors SSB HGNC ENSG00000138385 55 0 0 60 10 14.2857 DYNC1I2 0 genome.wustl.edu 37 2 172549339 172549339 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 172549339 172549339 A - DEL DYNC1I2 ENST00000397119 human ensembl 74_37 +1 known frame_shift_del c.161 p.R57fs 1.000 NULL pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I2 HGNC ENSG00000077380 11 0 0 8 5 38.4615 LOC101927055 0 genome.wustl.edu 37 2 179644669 179644669 + RNA DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 179644669 179644669 A - DEL LOC101927055 ENST00000582038 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-88L24.4 Clone_based_vega_gene ENSG00000266413 23 0 0 33 8 19.5122 ZDBF2 0 genome.wustl.edu 37 2 207174869 207174869 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 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 29 0 0 44 7 13.7255 CRYGA 0 genome.wustl.edu 37 2 209025577 209025577 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 209025577 209025577 C - DEL CRYGA ENST00000304502 human ensembl 74_37 -1 known frame_shift_del c.476 p.G159fs 0.651 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGA HGNC ENSG00000168582 123 0 0 179 18 9.13706 KANSL1L 0 genome.wustl.edu 37 2 210905211 210905212 + Frame_Shift_Ins INS - - T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 210905211 210905212 - T INS KANSL1L ENST00000281772 human ensembl 74_37 -1 known frame_shift_ins c.1962_1961 p.T655fs 0.955:0.957 NULL NULL - no_errors KANSL1L HGNC ENSG00000144445 57 0 0 47 7 12.963 KANSL1L 0 genome.wustl.edu 37 2 211018374 211018375 + Frame_Shift_Ins INS - - T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 211018374 211018375 - T INS KANSL1L ENST00000281772 human ensembl 74_37 -1 known frame_shift_ins c.933_932 p.N311fs 0.999:1.000 NULL NULL - no_errors KANSL1L HGNC ENSG00000144445 138 0 0 170 16 8.60215 ABCA12 0 genome.wustl.edu 37 2 215843156 215843156 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 215843156 215843156 T - DEL ABCA12 ENST00000272895 human ensembl 74_37 -1 known frame_shift_del c.5012 p.N1671fs 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 32 0 0 37 6 13.9535 ACSL3 0 genome.wustl.edu 37 2 223795419 223795419 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 223795419 223795419 A - DEL ACSL3 ENST00000357430 human ensembl 74_37 +1 known frame_shift_del c.1621 p.N542fs 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL3 HGNC ENSG00000123983 37 0 0 57 7 10.9375 IRS1 0 genome.wustl.edu 37 2 227661664 227661664 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 227661664 227661664 C - DEL IRS1 ENST00000305123 human ensembl 74_37 -1 known frame_shift_del c.1791 p.H598fs 0.995 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors IRS1 HGNC ENSG00000169047 50 0 0 53 9 14.5161 COL4A4 0 genome.wustl.edu 37 2 227914822 227914822 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 227914822 227914822 G - DEL COL4A4 ENST00000396625 human ensembl 74_37 -1 known frame_shift_del c.3176 p.P1059fs 0.303 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC ENSG00000081052 100 0 0 115 16 12.2137 ALK 0 genome.wustl.edu 37 2 29455289 29455290 + Frame_Shift_Ins INS - - G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 29455289 29455290 - G INS ALK ENST00000389048 human ensembl 74_37 -1 known frame_shift_ins c.2513_2512 p.L838fs 1.000:0.893 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ALK HGNC ENSG00000171094 60 0 0 67 6 8.21918 CRIPT 0 genome.wustl.edu 37 2 46846809 46846809 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 46846809 46846809 A - DEL CRIPT ENST00000238892 human ensembl 74_37 +1 known frame_shift_del c.126 p.A45fs 1.000 pfam_PDZ-binding_CRIPT pfam_PDZ-binding_CRIPT - no_errors CRIPT HGNC ENSG00000119878 58 0 0 54 7 11.4754 SNRNP27 0 genome.wustl.edu 37 2 70131463 70131463 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 70131463 70131463 T - DEL SNRNP27 ENST00000409116 human ensembl 74_37 +1 novel frame_shift_del c.426 p.S145fs 0.141 NULL pfam_DUF1777 - no_errors SNRNP27 HGNC ENSG00000124380 55 0 0 62 5 7.46269 C2orf42 0 genome.wustl.edu 37 2 70402810 70402811 + Frame_Shift_Ins INS - - T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 70402810 70402811 - T INS C2orf42 ENST00000264434 human ensembl 74_37 -1 known frame_shift_ins c.1034_1033 p.R345fs 1.000:1.000 NULL NULL - no_errors C2orf42 HGNC ENSG00000115998 258 0 0 282 37 11.5987 LOXL3 0 genome.wustl.edu 37 2 74763924 74763924 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 74763924 74763924 C - DEL LOXL3 ENST00000264094 human ensembl 74_37 -1 known frame_shift_del c.824 p.G275fs 0.001 pfam_SRCR,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 LOXL3 HGNC ENSG00000115318 93 0 0 119 15 11.194 TACR1 0 genome.wustl.edu 37 2 75280842 75280842 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 75280842 75280842 G - DEL TACR1 ENST00000305249 human ensembl 74_37 -1 known frame_shift_del c.625 p.L209fs 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NK1_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK3_rcpt - no_errors TACR1 HGNC ENSG00000115353 65 0 0 75 9 10.7143 SUCLG1 0 genome.wustl.edu 37 2 84650857 84650857 + RNA DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 84650857 84650857 T - DEL SUCLG1 ENST00000491123 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors SUCLG1 HGNC ENSG00000163541 21 0 0 9 3 25 ANKRD36C 0 genome.wustl.edu 37 2 96652538 96652538 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 96652538 96652538 T - DEL ANKRD36C ENST00000456556 human ensembl 74_37 -1 known frame_shift_del c.447 p.K149fs 0.389 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36C HGNC ENSG00000174501 50 0 0 60 6 9.09091 LIPT1 0 genome.wustl.edu 37 2 99778781 99778781 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 2 99778781 99778781 A - DEL LIPT1 ENST00000340066 human ensembl 74_37 +1 known frame_shift_del c.361 p.K123fs 0.994 pfam_BPL_LipA_LipB,tigrfam_LipoylTrfase_LipoateP_Ligase pfam_BPL_LipA_LipB,tigrfam_LipoylTrfase_LipoateP_Ligase - no_errors LIPT1 HGNC ENSG00000144182 74 0 0 82 8 8.88889 HM13 0 genome.wustl.edu 37 20 30142485 30142488 + RNA DEL AAAA AAAA - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 20 30142485 30142488 AAAA - DEL HM13 ENST00000474466 human ensembl 74_37 +1 known rna NULL NULL 0.172:0.159:0.155:0.142 - - - no_errors HM13 HGNC ENSG00000101294 25 0 0 24 6 20 MIR644A 0 genome.wustl.edu 37 20 33054130 33054130 + RNA DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 20 33054130 33054130 T - DEL MIR644A ENST00000385262 human ensembl 74_37 +1 known rna NULL NULL 0.030 - - - no_errors MIR644A HGNC ENSG00000207997 30 0 0 19 9 32.1429 TOP1 0 genome.wustl.edu 37 20 39709868 39709870 + In_Frame_Del DEL AGA AGA - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 20 39709868 39709870 AGA - DEL TOP1 ENST00000361337 human ensembl 74_37 +1 known in_frame_del c.495_497 p.E169in_frame_del 1.000:1.000:1.000 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 25 0 0 48 4 7.69231 EMILIN3 0 genome.wustl.edu 37 20 39990829 39990829 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 20 39990829 39990829 C - DEL EMILIN3 ENST00000332312 human ensembl 74_37 -1 known frame_shift_del c.1380 p.W461fs 0.767 NULL pfam_EMI_domain,pfscan_EMI_domain - no_errors EMILIN3 HGNC ENSG00000183798 111 0 0 163 15 8.42697 IFT52 0 genome.wustl.edu 37 20 42271094 42271097 + RNA DEL CTAA CTAA - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 CTAA CTAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 20 42271094 42271097 CTAA - DEL IFT52 ENST00000471199 human ensembl 74_37 +1 known rna NULL NULL 0.942:0.689:0.051:0.053 - - - no_errors IFT52 HGNC ENSG00000101052 47 0 0 70 10 12.5 ZNF335 0 genome.wustl.edu 37 20 44596525 44596525 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 20 44596525 44596525 G - DEL ZNF335 ENST00000322927 human ensembl 74_37 -1 known frame_shift_del c.662 p.P221fs 0.004 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF335 HGNC ENSG00000198026 64 0 0 99 8 7.47664 CDH4 0 genome.wustl.edu 37 20 60511828 60511828 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 20 60511828 60511828 C - DEL CDH4 ENST00000360469 human ensembl 74_37 +1 known frame_shift_del c.2578 p.Y862fs 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH4 HGNC ENSG00000179242 52 0 0 82 6 6.81818 YTHDF1 0 genome.wustl.edu 37 20 61834828 61834828 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 20 61834828 61834828 G - DEL YTHDF1 ENST00000370339 human ensembl 74_37 -1 known frame_shift_del c.464 p.P155fs 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDF1 HGNC ENSG00000149658 52 0 0 80 8 9.09091 COL20A1 0 genome.wustl.edu 37 20 61950424 61950424 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 20 61950424 61950424 C - DEL COL20A1 ENST00000326996 human ensembl 74_37 +1 known frame_shift_del c.2678 p.L895fs 0.271 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL20A1 HGNC ENSG00000101203 56 0 0 70 13 15.6627 LTN1 0 genome.wustl.edu 37 21 30341860 30341860 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 21 30341860 30341860 A - DEL LTN1 ENST00000389194 human ensembl 74_37 -1 known frame_shift_del c.1377 p.F459fs 0.999 superfamily_ARM-type_fold pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors LTN1 HGNC ENSG00000198862 105 0 0 123 14 10.219 SLC5A3 0 genome.wustl.edu 37 21 35467872 35467872 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 21 35467872 35467872 T - DEL SLC5A3 ENST00000381151 human ensembl 74_37 +1 known frame_shift_del c.375 p.F126fs 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 SLC5A3 HGNC ENSG00000198743 251 0 0 310 30 8.82353 ZBTB21 0 genome.wustl.edu 37 21 43412134 43412134 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 21 43412134 43412134 T - DEL ZBTB21 ENST00000310826 human ensembl 74_37 -1 known frame_shift_del c.2071 p.M691fs 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB21 HGNC ENSG00000173276 246 0 0 253 36 12.4567 RRP1B 0 genome.wustl.edu 37 21 45110242 45110242 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 21 45110242 45110242 C - DEL RRP1B ENST00000340648 human ensembl 74_37 +1 known frame_shift_del c.1940 p.F649fs 0.021 NULL pfam_Nop52 - no_errors RRP1B HGNC ENSG00000160208 103 0 0 92 10 9.80392 GAB4 0 genome.wustl.edu 37 22 17488852 17488852 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 22 17488852 17488852 G - DEL GAB4 ENST00000400588 human ensembl 74_37 -1 known frame_shift_del c.153 p.E52fs 0.067 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB4 HGNC ENSG00000215568 26 0 0 34 4 10.5263 CCDC116 0 genome.wustl.edu 37 22 21991051 21991052 + Frame_Shift_Ins INS - - C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 22 21991051 21991052 - C INS CCDC116 ENST00000292779 human ensembl 74_37 +1 known frame_shift_ins c.1534_1535 p.R513fs 0.001:0.001 NULL NULL - no_errors CCDC116 HGNC ENSG00000161180 85 0 0 78 7 8.23529 SUN2 0 genome.wustl.edu 37 22 39145777 39145777 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 22 39145777 39145777 A - DEL SUN2 ENST00000216064 human ensembl 74_37 -1 known frame_shift_del c.608 p.L203fs 1.000 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUN2 HGNC ENSG00000100242 27 0 0 41 10 19.6078 DNAJB7 0 genome.wustl.edu 37 22 41257115 41257115 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 22 41257115 41257115 T - DEL DNAJB7 ENST00000307221 human ensembl 74_37 -1 known frame_shift_del c.884 p.K295fs 0.998 NULL 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 94 0 0 76 10 11.6279 SREBF2 0 genome.wustl.edu 37 22 42289201 42289201 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 22 42289201 42289201 C - DEL SREBF2 ENST00000361204 human ensembl 74_37 +1 known frame_shift_del c.2289 p.L765fs 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SREBF2 HGNC ENSG00000198911 85 0 0 112 11 8.94309 SAMM50 0 genome.wustl.edu 37 22 44392209 44392209 + RNA DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 22 44392209 44392209 T - DEL SAMM50 ENST00000493621 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SAMM50 HGNC ENSG00000100347 657 1 0.151976 783 88 10.1033 CELSR1 0 genome.wustl.edu 37 22 46760471 46760471 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 22 46760471 46760471 G - DEL CELSR1 ENST00000262738 human ensembl 74_37 -1 known frame_shift_del c.8717 p.P2906fs 0.005 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 70 0 0 97 6 5.82524 MOV10L1 0 genome.wustl.edu 37 22 50553619 50553620 + Frame_Shift_Ins INS - - G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 22 50553619 50553620 - G INS MOV10L1 ENST00000262794 human ensembl 74_37 +1 known frame_shift_ins c.1203_1204 p.L403fs 0.000:0.000 NULL superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold - no_errors MOV10L1 HGNC ENSG00000073146 237 0 0 240 25 9.43396 UROC1 0 genome.wustl.edu 37 3 126220106 126220106 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 126220106 126220106 T - DEL UROC1 ENST00000290868 human ensembl 74_37 -1 known frame_shift_del c.920 p.K307fs 1.000 pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase - no_errors UROC1 HGNC ENSG00000159650 240 1 0.414938 242 28 10.3704 TPRA1 0 genome.wustl.edu 37 3 127294786 127294788 + In_Frame_Del DEL GAA GAA - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 127294786 127294788 GAA - DEL TPRA1 ENST00000355552 human ensembl 74_37 -1 known in_frame_del c.606_604 p.F202in_frame_del 1.000:1.000:1.000 pfam_Uncharacterised_TM-40 pfam_Uncharacterised_TM-40 - no_errors TPRA1 HGNC ENSG00000163870 48 0 0 57 7 10.9375 STAG1 0 genome.wustl.edu 37 3 136323165 136323166 + Frame_Shift_Ins INS - - C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 136323165 136323166 - C INS STAG1 ENST00000383202 human ensembl 74_37 -1 known frame_shift_ins c.283_282 p.K94fs 1.000:0.997 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 184 0 0 214 31 12.6531 ATR 0 genome.wustl.edu 37 3 142242920 142242921 + Frame_Shift_Ins INS - - C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 142242920 142242921 - C INS ATR ENST00000350721 human ensembl 74_37 -1 known frame_shift_ins c.4067_4066 p.E1356fs 1.000:1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 147 0 0 155 20 11.4286 B3GALNT1 0 genome.wustl.edu 37 3 160804229 160804229 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 160804229 160804229 T - DEL B3GALNT1 ENST00000320474 human ensembl 74_37 -1 known frame_shift_del c.314 p.K105fs 0.964 pfam_Glyco_trans_31 pfam_Glyco_trans_31,pfam_Fringe-like - no_errors B3GALNT1 HGNC ENSG00000169255 122 0 0 121 17 12.3188 NMD3 0 genome.wustl.edu 37 3 160942803 160942804 + Frame_Shift_Ins INS - - A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 160942803 160942804 - A INS NMD3 ENST00000351193 human ensembl 74_37 +1 known frame_shift_ins c.130_131 p.G45fs 1.000:1.000 pfam_NMD3 pfam_NMD3 - no_errors NMD3 HGNC ENSG00000169251 125 0 0 140 21 13.0435 PHC3 0 genome.wustl.edu 37 3 169889137 169889138 + Frame_Shift_Ins INS - - A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 169889137 169889138 - A INS PHC3 ENST00000497658 human ensembl 74_37 -1 known frame_shift_ins c.438_437 p.L147fs 0.001:0.001 NULL NULL - no_errors PHC3 HGNC ENSG00000173889 10 0 0 10 6 37.5 SKIL 0 genome.wustl.edu 37 3 170078165 170078165 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 170078165 170078165 A - DEL SKIL ENST00000259119 human ensembl 74_37 +1 known frame_shift_del c.46 p.K17fs 0.970 NULL pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put - no_errors SKIL HGNC ENSG00000136603 91 0 0 99 7 6.60377 ABCC5 0 genome.wustl.edu 37 3 183665257 183665257 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 183665257 183665257 A - DEL ABCC5 ENST00000334444 human ensembl 74_37 -1 known frame_shift_del c.3269 p.L1090fs 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC5 HGNC ENSG00000114770 34 0 0 43 5 10.4167 TMEM41A 0 genome.wustl.edu 37 3 185212518 185212518 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 185212518 185212518 A - DEL TMEM41A ENST00000421852 human ensembl 74_37 -1 known frame_shift_del c.467 p.F156fs 1.000 pfam_SNARE_assoc pfam_SNARE_assoc - no_errors TMEM41A HGNC ENSG00000163900 157 0 0 130 18 12.1622 EOMES 0 genome.wustl.edu 37 3 27761703 27761703 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 27761703 27761703 C - DEL EOMES ENST00000449599 human ensembl 74_37 -1 known frame_shift_del c.995 p.G332fs 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors EOMES HGNC ENSG00000163508 204 0 0 228 23 9.16335 CLASP2 0 genome.wustl.edu 37 3 33602361 33602361 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 33602361 33602361 T - DEL CLASP2 ENST00000399362 human ensembl 74_37 -1 known frame_shift_del c.2890 p.M964fs 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP2 HGNC ENSG00000163539 132 1 0.75188 181 23 11.2745 ARPP21 0 genome.wustl.edu 37 3 35833707 35833708 + RNA INS - - A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 35833707 35833708 - A INS ARPP21 ENST00000476052 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors ARPP21 HGNC ENSG00000172995 36 0 0 18 6 25 SCN11A 0 genome.wustl.edu 37 3 38949441 38949441 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 38949441 38949441 T - DEL SCN11A ENST00000302328 human ensembl 74_37 -1 known frame_shift_del c.1472 p.K491fs 0.352 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 58 0 0 69 6 8 NKTR 0 genome.wustl.edu 37 3 42679486 42679486 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 42679486 42679486 A - DEL NKTR ENST00000232978 human ensembl 74_37 +1 known frame_shift_del c.2290 p.N766fs 0.001 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors NKTR HGNC ENSG00000114857 63 0 0 87 15 14.7059 ENSG00000271941 0 genome.wustl.edu 37 3 43388801 43388801 + RNA DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 43388801 43388801 T - DEL ENSG00000271941 ENST00000607513 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors RP11-188P20.3 Clone_based_vega_gene ENSG00000271941 120 0 0 122 19 13.4752 KLHDC8B 0 genome.wustl.edu 37 3 49211691 49211691 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 49211691 49211691 G - DEL KLHDC8B ENST00000332780 human ensembl 74_37 +1 known frame_shift_del c.396 p.G134fs 0.566 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC8B HGNC ENSG00000185909 122 0 0 149 19 11.3095 CCDC36 0 genome.wustl.edu 37 3 49294312 49294312 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 49294312 49294312 A - DEL CCDC36 ENST00000296449 human ensembl 74_37 +1 known frame_shift_del c.1382 p.K462fs 0.000 NULL NULL - no_errors CCDC36 HGNC ENSG00000173421 163 0 0 195 22 10.1382 BSN 0 genome.wustl.edu 37 3 49688112 49688112 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 49688112 49688112 C - DEL BSN ENST00000296452 human ensembl 74_37 +1 known frame_shift_del c.1586 p.L531fs 0.096 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 174 0 0 182 23 11.2195 BSN 0 genome.wustl.edu 37 3 49689123 49689123 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 49689123 49689123 G - DEL BSN ENST00000296452 human ensembl 74_37 +1 known frame_shift_del c.2134 p.V713fs 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 90 0 0 114 11 8.8 STAB1 0 genome.wustl.edu 37 3 52556205 52556205 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 52556205 52556205 G - DEL STAB1 ENST00000321725 human ensembl 74_37 +1 known frame_shift_del c.6424 p.G2143fs 0.998 smart_EG-like_dom,pfscan_EG-like_dom pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 75 0 0 93 11 10.5769 ERC2 0 genome.wustl.edu 37 3 56114958 56114958 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 56114958 56114958 T - DEL ERC2 ENST00000288221 human ensembl 74_37 -1 known frame_shift_del c.1528 p.T510fs 1.000 pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin - no_errors ERC2 HGNC ENSG00000187672 39 0 0 38 10 20.8333 DENND6A 0 genome.wustl.edu 37 3 57619023 57619023 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 3 57619023 57619023 A - DEL DENND6A ENST00000311128 human ensembl 74_37 -1 known frame_shift_del c.1322 p.L441fs 1.000 pfam_Afi1_N pfam_Afi1_N,pfam_ABL9/DENND6_dom,pfam_DENN_dom - no_errors DENND6A HGNC ENSG00000174839 82 0 0 98 18 15.5172 LARP1B 0 genome.wustl.edu 37 4 129127626 129127627 + Frame_Shift_Ins INS - - A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 129127626 129127627 - A INS LARP1B ENST00000326639 human ensembl 74_37 +1 known frame_shift_ins c.2353_2354 p.F788fs 1.000:1.000 smart_DM15 pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1B HGNC ENSG00000138709 87 0 0 100 9 8.25688 CLGN 0 genome.wustl.edu 37 4 141321549 141321549 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 141321549 141321549 T - DEL CLGN ENST00000325617 human ensembl 74_37 -1 known frame_shift_del c.656 p.K219fs 0.980 pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,prints_Calret/calnex - no_errors CLGN HGNC ENSG00000153132 115 0 0 97 18 15.6522 RGS12 0 genome.wustl.edu 37 4 3430399 3430399 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 3430399 3430399 A - DEL RGS12 ENST00000344733 human ensembl 74_37 +1 known frame_shift_del c.3526 p.K1178fs 1.000 NULL pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 57 0 0 76 14 15.5556 MSX1 0 genome.wustl.edu 37 4 4864438 4864438 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 4864438 4864438 C - DEL MSX1 ENST00000382723 human ensembl 74_37 +1 known frame_shift_del c.480 p.P162fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors MSX1 HGNC ENSG00000163132 238 0 0 264 18 6.38298 PIGG 0 genome.wustl.edu 37 4 524250 524251 + Frame_Shift_Del DEL TA TA - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 524250 524251 TA - DEL PIGG ENST00000453061 human ensembl 74_37 +1 known frame_shift_del c.2287_2288 p.Y763fs 1.000:1.000 NULL pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors PIGG HGNC ENSG00000174227 99 0 0 109 11 9.16667 EXOC1 0 genome.wustl.edu 37 4 56765965 56765965 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 56765965 56765965 A - DEL EXOC1 ENST00000346134 human ensembl 74_37 +1 known frame_shift_del c.2252 p.E754fs 1.000 pfam_Exocyst_Exoc1/SEC3 pfam_Exocyst_Exoc1/SEC3 - no_errors EXOC1 HGNC ENSG00000090989 91 0 0 72 11 13.253 EPHA5 0 genome.wustl.edu 37 4 66217312 66217312 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 66217312 66217312 T - DEL EPHA5 ENST00000273854 human ensembl 74_37 -1 known frame_shift_del c.2303 p.N768fs 0.998 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,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 50 0 0 81 6 6.89655 PROL1 0 genome.wustl.edu 37 4 71275428 71275429 + Frame_Shift_Ins INS - - T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 71275428 71275429 - T INS PROL1 ENST00000399575 human ensembl 74_37 +1 putative frame_shift_ins c.383_384 p.L131fs 0.029:0.022 NULL NULL - no_errors PROL1 HGNC ENSG00000171199 138 0 0 146 11 7.00637 C4orf26 0 genome.wustl.edu 37 4 76489680 76489680 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 76489680 76489680 A - DEL C4orf26 ENST00000435974 human ensembl 74_37 +1 putative frame_shift_del c.468 p.S159fs 0.001 NULL NULL - no_errors C4orf26 HGNC ENSG00000174792 80 0 0 98 10 9.25926 SEC31A 0 genome.wustl.edu 37 4 83785565 83785565 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 83785565 83785565 T - DEL SEC31A ENST00000432794 human ensembl 74_37 -1 known frame_shift_del c.1384 p.I462fs 0.985 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31A HGNC ENSG00000138674 73 0 0 70 11 13.5802 GRID2 0 genome.wustl.edu 37 4 93225753 93225754 + RNA DEL AA AA - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 93225753 93225754 AA - DEL GRID2 ENST00000505687 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors GRID2 HGNC ENSG00000152208 23 0 0 24 3 11.1111 TMEM175 0 genome.wustl.edu 37 4 946205 946206 + Frame_Shift_Ins INS - - TG TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 4 946205 946206 - TG INS TMEM175 ENST00000264771 human ensembl 74_37 +1 known frame_shift_ins c.429_430 p.V147fs 1.000:1.000 NULL pfam_DUF1211_TMEM175 - no_errors TMEM175 HGNC ENSG00000127419 194 0 0 221 20 8.29876 FSTL4 0 genome.wustl.edu 37 5 132534947 132534947 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 132534947 132534947 C - DEL FSTL4 ENST00000265342 human ensembl 74_37 -1 known frame_shift_del c.2369 p.G790fs 0.001 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Kazal_dom,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL4 HGNC ENSG00000053108 29 0 0 36 8 18.1818 DNAH5 0 genome.wustl.edu 37 5 13701426 13701426 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 13701426 13701426 A - DEL DNAH5 ENST00000265104 human ensembl 74_37 -1 known frame_shift_del c.13458 p.F4486fs 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 101 0 0 109 11 9.16667 FAM53C 0 genome.wustl.edu 37 5 137680834 137680834 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 137680834 137680834 G - DEL FAM53C ENST00000239906 human ensembl 74_37 +1 known frame_shift_del c.457 p.G154fs 1.000 NULL NULL - no_errors FAM53C HGNC ENSG00000120709 136 0 0 147 11 6.96203 PCDHA11 0 genome.wustl.edu 37 5 140250189 140250190 + Frame_Shift_Del DEL CG CG - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 CG CG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 140250189 140250190 CG - DEL PCDHA11 ENST00000398640 human ensembl 74_37 +1 known frame_shift_del c.1501_1502 p.L503fs 0.021:0.020 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 165 0 0 179 33 15.566 PCDHGA3 0 genome.wustl.edu 37 5 140725098 140725098 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 140725098 140725098 C - DEL PCDHGA3 ENST00000253812 human ensembl 74_37 +1 known frame_shift_del c.1498 p.L501fs 0.309 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 PCDHGA3 HGNC ENSG00000254245 125 0 0 122 16 11.5942 PCDHGB7 0 genome.wustl.edu 37 5 140799684 140799685 + Frame_Shift_Ins INS - - T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 140799684 140799685 - T INS PCDHGB7 ENST00000398594 human ensembl 74_37 +1 known frame_shift_ins c.2258_2259 p.C755fs 0.574:0.214 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB7 HGNC ENSG00000254122 53 0 0 65 7 9.72222 PCDHGC3 0 genome.wustl.edu 37 5 140857373 140857374 + Frame_Shift_Ins INS - - C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 140857373 140857374 - C INS PCDHGC3 ENST00000308177 human ensembl 74_37 +1 known frame_shift_ins c.1690_1691 p.Q566fs 0.998:1.000 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC3 HGNC ENSG00000240184 78 0 0 104 10 8.77193 TRIO 0 genome.wustl.edu 37 5 14488156 14488156 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 14488156 14488156 C - DEL TRIO ENST00000344204 human ensembl 74_37 +1 known frame_shift_del c.7419 p.S2476fs 0.021 NULL pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 20 0 0 10 4 28.5714 SPINK5 0 genome.wustl.edu 37 5 147499875 147499875 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 147499875 147499875 A - DEL SPINK5 ENST00000359874 human ensembl 74_37 +1 known frame_shift_del c.2459 p.K823fs 0.998 pfam_Kazal_dom,smart_Kazal_dom pfam_Kazal_dom,smart_Kazal_dom - no_errors SPINK5 HGNC ENSG00000133710 28 0 0 16 4 20 TNIP1 0 genome.wustl.edu 37 5 150413227 150413227 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 150413227 150413227 G - DEL TNIP1 ENST00000315050 human ensembl 74_37 -1 known frame_shift_del c.1721 p.P574fs 0.467 NULL superfamily_ARM-type_fold - no_errors TNIP1 HGNC ENSG00000145901 54 0 0 83 10 10.7527 EBF1 0 genome.wustl.edu 37 5 158526597 158526597 + RNA DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 158526597 158526597 T - DEL EBF1 ENST00000518836 human ensembl 74_37 -1 known rna NULL NULL 0.941 - - - no_errors EBF1 HGNC ENSG00000164330 15 0 0 25 5 16.6667 MYO10 0 genome.wustl.edu 37 5 16694606 16694606 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 16694606 16694606 C - DEL MYO10 ENST00000513610 human ensembl 74_37 -1 known frame_shift_del c.3674 p.G1225fs 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology 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 144 0 0 158 16 9.1954 TBC1D9B 0 genome.wustl.edu 37 5 179290808 179290809 + Frame_Shift_Ins INS - - C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 179290808 179290809 - C INS TBC1D9B ENST00000356834 human ensembl 74_37 -1 known frame_shift_ins c.3393_3392 p.S1132fs 0.007:0.033 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9B HGNC ENSG00000197226 141 0 0 162 20 10.989 MROH2B 0 genome.wustl.edu 37 5 41004528 41004528 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 41004528 41004528 T - DEL MROH2B ENST00000399564 human ensembl 74_37 -1 known frame_shift_del c.4114 p.I1372fs 0.954 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 98 0 0 124 9 6.76692 MAP3K1 0 genome.wustl.edu 37 5 56170909 56170910 + Frame_Shift_Del DEL GA GA - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 56170909 56170910 GA - DEL MAP3K1 ENST00000399503 human ensembl 74_37 +1 novel frame_shift_del c.1737_1738 p.E581fs 0.888:0.922 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_dom - no_errors MAP3K1 HGNC ENSG00000095015 161 0 0 194 19 8.92019 KIF2A 0 genome.wustl.edu 37 5 61677078 61677078 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 5 61677078 61677078 G - DEL KIF2A ENST00000407818 human ensembl 74_37 +1 known frame_shift_del c.2147 p.D717fs 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 KIF2A HGNC ENSG00000068796 187 0 0 235 19 7.48031 BEND3 0 genome.wustl.edu 37 6 107390914 107390914 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 107390914 107390914 G - DEL BEND3 ENST00000369042 human ensembl 74_37 -1 known frame_shift_del c.1481 p.P494fs 0.001 NULL pfam_BEN_domain - no_errors BEND3 HGNC ENSG00000178409 39 0 0 62 7 10.1449 TMEM14B 0 genome.wustl.edu 37 6 10756864 10756864 + RNA DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 10756864 10756864 A - DEL TMEM14B ENST00000486421 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors TMEM14B HGNC ENSG00000137210 8 0 0 10 4 28.5714 SLC16A10 0 genome.wustl.edu 37 6 111498763 111498763 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 111498763 111498763 A - DEL SLC16A10 ENST00000368851 human ensembl 74_37 +1 known frame_shift_del c.837 p.I282fs 0.651 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A10 HGNC ENSG00000112394 83 0 0 95 9 8.65385 KIAA1919 0 genome.wustl.edu 37 6 111587361 111587361 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 111587361 111587361 T - DEL KIAA1919 ENST00000368847 human ensembl 74_37 +1 known frame_shift_del c.596 p.C202fs 0.469 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors KIAA1919 HGNC ENSG00000173214 33 0 0 49 6 10.9091 LAMA2 0 genome.wustl.edu 37 6 129759816 129759816 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 129759816 129759816 A - DEL LAMA2 ENST00000421865 human ensembl 74_37 +1 known frame_shift_del c.5994 p.T2000fs 0.016 NULL pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,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 LAMA2 HGNC ENSG00000196569 79 0 0 92 12 11.5385 AKAP7 0 genome.wustl.edu 37 6 131481276 131481276 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 131481276 131481276 A - DEL AKAP7 ENST00000368123 human ensembl 74_37 +1 known frame_shift_del c.163 p.K57fs 0.449 pfam_Kinase-A_anchor_nucl_local_sig pfam_Kinase-A_anchor_nucl_local_sig,pfam_Kinase-A_anchor_RI-RII-bd_dom,superfamily_RNA_ligase/cNuc_Pdiesterase - no_errors AKAP7 HGNC ENSG00000118507 62 0 0 65 13 16.6667 AHI1 0 genome.wustl.edu 37 6 135784283 135784284 + Frame_Shift_Ins INS - - T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 135784283 135784284 - T INS AHI1 ENST00000265602 human ensembl 74_37 -1 known frame_shift_ins c.911_910 p.T304fs 0.016:0.034 NULL pfam_WD40_repeat,pfam_SH3_domain,pfam_SH3_2,superfamily_WD40_repeat_dom,superfamily_SH3_domain,smart_WD40_repeat,smart_SH3_domain,pfscan_SH3_domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_SH3_domain - no_errors AHI1 HGNC ENSG00000135541 38 0 0 24 9 27.2727 AKAP12 0 genome.wustl.edu 37 6 151672365 151672365 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 151672365 151672365 C - DEL AKAP12 ENST00000253332 human ensembl 74_37 +1 known frame_shift_del c.2839 p.T949fs 0.000 NULL pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC ENSG00000131016 102 0 0 102 16 13.5593 SYNE1 0 genome.wustl.edu 37 6 152708428 152708428 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 152708428 152708428 T - DEL SYNE1 ENST00000265368 human ensembl 74_37 -1 known frame_shift_del c.8266 p.I2756fs 0.663 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom 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 96 0 0 120 14 10.4478 IGF2R 0 genome.wustl.edu 37 6 160485488 160485488 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 160485488 160485488 G - DEL IGF2R ENST00000356956 human ensembl 74_37 +1 known frame_shift_del c.3942 p.D1317fs 0.125 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 156 0 0 172 54 23.8938 NHLRC1 0 genome.wustl.edu 37 6 18122226 18122226 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 18122226 18122226 A - DEL NHLRC1 ENST00000340650 human ensembl 74_37 -1 known frame_shift_del c.612 p.F204fs 0.001 pfscan_NHL_repeat_subgr smart_Znf_RING,pfscan_NHL_repeat_subgr,pfscan_Znf_RING - no_errors NHLRC1 HGNC ENSG00000187566 55 0 0 66 8 10.8108 RNF39 0 genome.wustl.edu 37 6 30040952 30040952 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 30040952 30040952 T - DEL RNF39 ENST00000244360 human ensembl 74_37 -1 known frame_shift_del c.664 p.M222fs 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY 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 111 0 0 94 14 12.963 DDR1 0 genome.wustl.edu 37 6 30863251 30863251 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 30863251 30863251 C - DEL DDR1 ENST00000376575 human ensembl 74_37 +1 known frame_shift_del c.1584 p.T531fs 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR1 HGNC ENSG00000204580 199 0 0 252 20 7.35294 HSPA1L 0 genome.wustl.edu 37 6 31779627 31779627 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 31779627 31779627 G - DEL HSPA1L ENST00000375654 human ensembl 74_37 -1 known frame_shift_del c.123 p.S42fs 1.000 pfam_Hsp_70_fam,prints_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA1L HGNC ENSG00000204390 114 0 0 162 17 9.49721 UHRF1BP1 0 genome.wustl.edu 37 6 34839369 34839369 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 34839369 34839369 C - DEL UHRF1BP1 ENST00000192788 human ensembl 74_37 +1 known frame_shift_del c.3990 p.I1333fs 1.000 NULL NULL - no_errors UHRF1BP1 HGNC ENSG00000065060 67 0 0 68 8 10.5263 BRPF3 0 genome.wustl.edu 37 6 36181729 36181729 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 36181729 36181729 C - DEL BRPF3 ENST00000357641 human ensembl 74_37 +1 known frame_shift_del c.2555 p.P854fs 0.990 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF3 HGNC ENSG00000096070 95 0 0 103 7 6.36364 SPATS1 0 genome.wustl.edu 37 6 44336140 44336141 + Frame_Shift_Ins INS - - A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 44336140 44336141 - A INS SPATS1 ENST00000288390 human ensembl 74_37 +1 known frame_shift_ins c.599_600 p.L202fs 0.988:0.836 NULL NULL - no_errors SPATS1 HGNC ENSG00000249481 73 0 0 97 12 11.0092 CDC5L 0 genome.wustl.edu 37 6 44371656 44371656 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 44371656 44371656 A - DEL CDC5L ENST00000371477 human ensembl 74_37 +1 known frame_shift_del c.650 p.K219fs 1.000 NULL pfam_DUF3351,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors CDC5L HGNC ENSG00000096401 97 0 0 110 12 9.83607 SMAP1 0 genome.wustl.edu 37 6 71508370 71508371 + Frame_Shift_Del DEL AA AA - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 71508370 71508371 AA - DEL SMAP1 ENST00000370455 human ensembl 74_37 +1 known frame_shift_del c.506_507 p.K172fs 1.000:1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors SMAP1 HGNC ENSG00000112305 13 0 0 10 5 33.3333 SLC17A5 0 genome.wustl.edu 37 6 74351590 74351590 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 74351590 74351590 A - DEL SLC17A5 ENST00000355773 human ensembl 74_37 -1 known frame_shift_del c.349 p.Y117fs 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A5 HGNC ENSG00000119899 196 0 0 206 19 8.44444 COL12A1 0 genome.wustl.edu 37 6 75799878 75799878 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 75799878 75799878 C - DEL COL12A1 ENST00000322507 human ensembl 74_37 -1 known frame_shift_del c.8889 p.R2964fs 0.003 pfam_Collagen pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 177 0 0 245 34 12.1864 LCA5 0 genome.wustl.edu 37 6 80196841 80196842 + Frame_Shift_Ins INS - - A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 80196841 80196842 - A INS LCA5 ENST00000369846 human ensembl 74_37 -1 known frame_shift_ins c.1974_1973 p.L659fs 0.311:0.979 NULL NULL - no_errors LCA5 HGNC ENSG00000135338 137 0 0 161 22 12.0219 MMS22L 0 genome.wustl.edu 37 6 97626340 97626340 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 6 97626340 97626340 T - DEL MMS22L ENST00000275053 human ensembl 74_37 -1 known frame_shift_del c.2658 p.A887fs 0.990 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MMS22L HGNC ENSG00000146263 115 0 0 110 14 11.2903 ZAN 0 genome.wustl.edu 37 7 100349934 100349935 + Frame_Shift_Ins INS - - A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 100349934 100349935 - A INS ZAN ENST00000546292 human ensembl 74_37 +1 known frame_shift_ins c.2206_2207 p.P738fs 0.001:0.001 NULL pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 76 0 0 69 7 9.21053 SLC12A9 0 genome.wustl.edu 37 7 100459489 100459490 + Frame_Shift_Ins INS - - G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 100459489 100459490 - G INS SLC12A9 ENST00000354161 human ensembl 74_37 +1 known frame_shift_ins c.1667_1668 p.L559fs 1.000:0.999 NULL pfam_AA-permease/SLC12A_dom - no_errors SLC12A9 HGNC ENSG00000146828 45 0 0 55 11 16.6667 RELN 0 genome.wustl.edu 37 7 103236956 103236957 + Frame_Shift_Ins INS - - C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 103236956 103236957 - C INS RELN ENST00000424685 human ensembl 74_37 -1 known frame_shift_ins c.3486_3485 p.I1163fs 1.000:1.000 superfamily_Growth_fac_rcpt_N_dom,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 95 0 0 118 19 13.8686 SLC13A4 0 genome.wustl.edu 37 7 135368918 135368918 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 135368918 135368918 G - DEL SLC13A4 ENST00000354042 human ensembl 74_37 -1 known frame_shift_del c.1697 p.P566fs 1.000 pfam_Na/sul_symport,pfam_Cit_transptr-like_dom,pfam_DctM pfam_Na/sul_symport,pfam_Cit_transptr-like_dom,pfam_DctM - no_errors SLC13A4 HGNC ENSG00000164707 73 0 0 96 12 11.1111 GIMAP8 0 genome.wustl.edu 37 7 150164231 150164232 + Frame_Shift_Ins INS - - A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 150164231 150164232 - A INS GIMAP8 ENST00000307271 human ensembl 74_37 +1 known frame_shift_ins c.445_446 p.N151fs 0.000:0.001 pfam_AIG1,superfamily_P-loop_NTPase pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP8 HGNC ENSG00000171115 62 0 0 93 12 11.4286 TWISTNB 0 genome.wustl.edu 37 7 19738024 19738024 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 19738024 19738024 T - DEL TWISTNB ENST00000222567 human ensembl 74_37 -1 known frame_shift_del c.932 p.K311fs 1.000 NULL pfam_RNA_pol_Rpb7_N - no_errors TWISTNB HGNC ENSG00000105849 159 0 0 171 19 10 CPVL 0 genome.wustl.edu 37 7 29070262 29070262 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 29070262 29070262 T - DEL CPVL ENST00000265394 human ensembl 74_37 -1 known frame_shift_del c.1251 p.V418fs 0.032 pfam_Peptidase_S10 pfam_Peptidase_S10,prints_Peptidase_S10 - no_errors CPVL HGNC ENSG00000106066 189 0 0 215 24 10.0418 COL28A1 0 genome.wustl.edu 37 7 7495740 7495740 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 7495740 7495740 C - DEL COL28A1 ENST00000399429 human ensembl 74_37 -1 known frame_shift_del c.1306 p.D436fs 1.000 NULL pfam_Collagen,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m - no_errors COL28A1 HGNC ENSG00000215018 73 0 0 67 9 11.8421 DTX2P1-UPK3BP1-PMS2P11 0 genome.wustl.edu 37 7 76610356 76610356 + RNA DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 76610356 76610356 C - DEL DTX2P1-UPK3BP1-PMS2P11 ENST00000584900 human ensembl 74_37 +1 known rna NULL NULL 0.847 - - - no_errors DTX2P1-UPK3BP1-PMS2P11 HGNC ENSG00000265479 132 1 0.75188 160 24 13.0435 ICA1 0 genome.wustl.edu 37 7 8198251 8198251 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 8198251 8198251 T - DEL ICA1 ENST00000422063 human ensembl 74_37 -1 known frame_shift_del c.611 p.N204fs 1.000 pfam_AH_dom,pfscan_AH_dom pfam_AH_dom,pfam_Islet_autoAg_Ica1_C,pfscan_AH_dom - no_errors ICA1 HGNC ENSG00000003147 71 0 0 72 9 11.1111 PCLO 0 genome.wustl.edu 37 7 82764462 82764463 + Frame_Shift_Ins INS - - T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 7 82764462 82764463 - T INS PCLO ENST00000333891 human ensembl 74_37 -1 known frame_shift_ins c.2404_2403 p.P801fs 0.138:0.352 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 131 0 0 148 15 9.20245 RGS22 0 genome.wustl.edu 37 8 100990178 100990178 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 8 100990178 100990178 T - DEL RGS22 ENST00000360863 human ensembl 74_37 -1 known frame_shift_del c.3486 p.K1162fs 0.010 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam - no_errors RGS22 HGNC ENSG00000132554 73 0 0 59 9 13.2353 UBR5 0 genome.wustl.edu 37 8 103289341 103289342 + Frame_Shift_Ins INS - - C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 8 103289341 103289342 - C INS UBR5 ENST00000520539 human ensembl 74_37 -1 known frame_shift_ins c.6368_6367 p.E2123fs 1.000:1.000 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 122 0 0 125 12 8.75912 DCSTAMP 0 genome.wustl.edu 37 8 105367351 105367351 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 8 105367351 105367351 A - DEL DCSTAMP ENST00000297581 human ensembl 74_37 +1 known frame_shift_del c.1276 p.R428fs 0.229 superfamily_ABC1_TM_dom pfam_DC_STAMP-like,superfamily_ABC1_TM_dom - no_errors DCSTAMP HGNC ENSG00000164935 102 0 0 94 12 11.3208 TATDN1 0 genome.wustl.edu 37 8 125535193 125535193 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 8 125535193 125535193 C - DEL TATDN1 ENST00000276692 human ensembl 74_37 -1 known frame_shift_del c.73 p.V25fs 1.000 pfam_TatD_family,pirsf_TatD_family pfam_TatD_family,pirsf_TatD_family - no_errors TATDN1 HGNC ENSG00000147687 95 0 0 109 7 6.03448 TG 0 genome.wustl.edu 37 8 133912544 133912546 + In_Frame_Del DEL AGG AGG - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 8 133912544 133912546 AGG - DEL TG ENST00000220616 human ensembl 74_37 +1 known in_frame_del c.3393_3395 p.G1132in_frame_del 0.038:0.887:0.918 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 24 0 0 33 4 10.8108 ADAMDEC1 0 genome.wustl.edu 37 8 24257686 24257686 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 8 24257686 24257686 A - DEL ADAMDEC1 ENST00000256412 human ensembl 74_37 +1 known frame_shift_del c.1015 p.K341fs 0.044 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 21 0 0 19 7 26.9231 EYA1 0 genome.wustl.edu 37 8 72123392 72123392 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 8 72123392 72123392 T - DEL EYA1 ENST00000340726 human ensembl 74_37 -1 known frame_shift_del c.1697 p.K566fs 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA1 HGNC ENSG00000104313 114 0 0 101 9 8.18182 ZFHX4 0 genome.wustl.edu 37 8 77766323 77766323 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 8 77766323 77766323 C - DEL ZFHX4 ENST00000521891 human ensembl 74_37 +1 known frame_shift_del c.7166 p.L2391fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 47 0 0 53 8 13.1148 TMEM55A 0 genome.wustl.edu 37 8 92020972 92020972 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 8 92020972 92020972 T - DEL TMEM55A ENST00000285419 human ensembl 74_37 -1 known frame_shift_del c.538 p.I180fs 1.000 pfam_Transmembrane_protein_55A/B pfam_Transmembrane_protein_55A/B - no_errors TMEM55A HGNC ENSG00000155099 108 0 0 103 17 14.1667 TNKS 0 genome.wustl.edu 37 8 9565940 9565940 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 8 9565940 9565940 A - DEL TNKS ENST00000310430 human ensembl 74_37 +1 known frame_shift_del c.1516 p.T508fs 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS HGNC ENSG00000173273 136 0 0 115 21 15.4412 POMT1 0 genome.wustl.edu 37 9 134381926 134381926 + RNA DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 134381926 134381926 T - DEL POMT1 ENST00000483472 human ensembl 74_37 +1 known rna NULL NULL 0.027 - - - no_errors POMT1 HGNC ENSG00000130714 49 0 0 49 10 16.9492 CEL 0 genome.wustl.edu 37 9 135946988 135946988 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 135946988 135946988 C - DEL CEL ENST00000372080 human ensembl 74_37 +1 known frame_shift_del c.2108 p.V706fs 0.002 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CEL HGNC ENSG00000170835 13 0 0 7 4 36.3636 KCNT1 0 genome.wustl.edu 37 9 138594133 138594134 + Frame_Shift_Ins INS - - G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 138594133 138594134 - G INS KCNT1 ENST00000298480 human ensembl 74_37 +1 known frame_shift_ins c.29_30 p.V13fs 0.003:0.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT1 HGNC ENSG00000107147 33 0 0 43 7 14 ENTPD2 0 genome.wustl.edu 37 9 139945517 139945517 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 139945517 139945517 C - DEL ENTPD2 ENST00000355097 human ensembl 74_37 -1 known frame_shift_del c.611 p.G204fs 0.999 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD2 HGNC ENSG00000054179 87 0 0 136 10 6.84932 TUBB4B 0 genome.wustl.edu 37 9 140137991 140137993 + In_Frame_Del DEL GAG GAG - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 140137991 140137993 GAG - DEL TUBB4B ENST00000340384 human ensembl 74_37 +1 known in_frame_del c.1321_1323 p.E443in_frame_del 1.000:1.000:1.000 NULL pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB4B HGNC ENSG00000188229 61 0 0 80 7 8.04598 BAG1 0 genome.wustl.edu 37 9 33261169 33261170 + Splice_Site INS - - A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 33261169 33261170 - A INS BAG1 ENST00000472232 human ensembl 74_37 -1 known splice_site_ins c.581-3_581-2 e3-2 1.000:0.964 - - - no_errors BAG1 HGNC ENSG00000107262 90 0 0 107 6 5.30973 PIGO 0 genome.wustl.edu 37 9 35091523 35091523 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 35091523 35091523 G - DEL PIGO ENST00000341666 human ensembl 74_37 -1 known frame_shift_del c.2361 p.T788fs 0.393 NULL pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors PIGO HGNC ENSG00000165282 113 0 0 131 13 9.02778 MELK 0 genome.wustl.edu 37 9 36630152 36630152 + RNA DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 36630152 36630152 T - DEL MELK ENST00000480021 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MELK HGNC ENSG00000165304 42 0 0 45 7 13.4615 PRUNE2 0 genome.wustl.edu 37 9 79267433 79267433 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 9 79267433 79267433 G - DEL PRUNE2 ENST00000428286 human ensembl 74_37 -1 known frame_shift_del c.7446 p.D2483fs 0.946 pfam_Bcl2-/adenovirus-E1B pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 247 0 0 283 35 11.0063 USP26 0 genome.wustl.edu 37 X 132160413 132160413 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 X 132160413 132160413 T - DEL USP26 ENST00000370832 human ensembl 74_37 -1 known frame_shift_del c.1836 p.G613fs 0.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP26 HGNC ENSG00000134588 35 0 0 27 6 18.1818 DMD 0 genome.wustl.edu 37 X 31196798 31196799 + Frame_Shift_Ins INS - - C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 X 31196798 31196799 - C INS DMD ENST00000357033 human ensembl 74_37 -1 known frame_shift_ins c.10211_10210 p.D3404fs 1.000:1.000 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,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 74 0 0 91 17 15.7407 BCOR 0 genome.wustl.edu 37 X 39913253 39913253 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 X 39913253 39913253 G - DEL BCOR ENST00000378444 human ensembl 74_37 -1 known frame_shift_del c.4862 p.P1621fs 0.994 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 12 0 0 21 4 16 MAGED1 0 genome.wustl.edu 37 X 51643311 51643311 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 X 51643311 51643311 C - DEL MAGED1 ENST00000375695 human ensembl 74_37 +1 known frame_shift_del c.2046 p.P684fs 1.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGED1 HGNC ENSG00000179222 34 0 0 20 3 13.0435 XIST 0 genome.wustl.edu 37 X 73071762 73071762 + RNA DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 X 73071762 73071762 A - DEL XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.649 - - - no_errors XIST HGNC ENSG00000229807 47 0 0 53 8 13.1148 MAGEE2 0 genome.wustl.edu 37 X 75004754 75004754 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 X 75004754 75004754 G - DEL MAGEE2 ENST00000373359 human ensembl 74_37 -1 known frame_shift_del c.133 p.Q45fs 0.008 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE2 HGNC ENSG00000186675 53 0 0 27 11 28.9474