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 AGL 0 genome.wustl.edu 37 1 100345545 100345545 + Missense_Mutation SNP A A C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 100345545 100345545 A C SNP AGL ENST00000294724 human ensembl 74_37 +1 known missense c.1678 p.S560R 1.000 superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met pfam_AGL/Gdb1,superfamily_6-hairpin_glycosidase-like,superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met - no_errors AGL HGNC ENSG00000162688 102 0 0 105 17 13.9344 TRMT13 0 genome.wustl.edu 37 1 100608734 100608734 + Missense_Mutation SNP A A C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 100608734 100608734 A C SNP TRMT13 ENST00000370141 human ensembl 74_37 +1 known missense c.711 p.R237S 1.000 pfam_Methyltransferase_TRM13 pfam_Methyltransferase_TRM13,pfam_Znf_CCCH-type_TRM13,pfam_TRM13/UPF0224_CHHC_Znf_dom - no_errors TRMT13 HGNC ENSG00000122435 26 0 0 22 5 18.5185 CDC14A 0 genome.wustl.edu 37 1 100819404 100819404 + Missense_Mutation SNP G G C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 100819404 100819404 G C SNP CDC14A ENST00000361544 human ensembl 74_37 +1 known missense c.136 p.E46Q 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors CDC14A HGNC ENSG00000079335 19 0 0 14 2 12.5 CDC14A 0 genome.wustl.edu 37 1 100964688 100964688 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 100964688 100964688 G A SNP CDC14A ENST00000361544 human ensembl 74_37 +1 known missense c.1625 p.S542N 0.924 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors CDC14A HGNC ENSG00000079335 55 0 0 44 12 21.4286 CDC14A 0 genome.wustl.edu 37 1 100964751 100964751 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 100964751 100964751 C T SNP CDC14A ENST00000361544 human ensembl 74_37 +1 known missense c.1688 p.T563I 0.978 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors CDC14A HGNC ENSG00000079335 64 0 0 53 18 25.3521 UBE4B 0 genome.wustl.edu 37 1 10132092 10132092 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 10132092 10132092 C T SNP UBE4B ENST00000343090 human ensembl 74_37 +1 known missense c.31 p.R11W 0.954 NULL pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4B HGNC ENSG00000130939 47 0 0 38 12 24 DPH5 0 genome.wustl.edu 37 1 101455914 101455914 + RNA SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 101455914 101455914 C T SNP DPH5 ENST00000370105 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors DPH5 HGNC ENSG00000117543 22 0 0 24 2 7.69231 DPH5 0 genome.wustl.edu 37 1 101456081 101456081 + Silent SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 101456081 101456081 T C SNP DPH5 ENST00000370109 human ensembl 74_37 -1 known silent c.741 p.E247 0.711 superfamily_4pyrrol_Mease,pirsf_Dphthn_synthase,tigrfam_Dphthn_synthase pfam_4pyrrol_Mease,superfamily_4pyrrol_Mease,pirsf_Dphthn_synthase,tigrfam_Dphthn_synthase - no_errors DPH5 HGNC ENSG00000117543 99 0 0 83 17 17 LOC100129138 0 genome.wustl.edu 37 1 104615893 104615893 + RNA SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 104615893 104615893 C T SNP LOC100129138 ENST00000418362 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors RP11-364B6.1 Clone_based_vega_gene ENSG00000215869 16 0 0 16 4 20 VAV3 0 genome.wustl.edu 37 1 108315356 108315356 + Splice_Site SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 108315356 108315356 C T SNP VAV3 ENST00000370056 human ensembl 74_37 -1 known splice_site c.555+1 e5+1 0.995 - - - no_errors VAV3 HGNC ENSG00000134215 57 0 0 68 4 5.55556 CELSR2 0 genome.wustl.edu 37 1 109815573 109815573 + Silent SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 109815573 109815573 C A SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known silent c.8262 p.A2754 0.029 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 32 0 0 24 7 22.5806 STRIP1 0 genome.wustl.edu 37 1 110592993 110592993 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 110592993 110592993 G A SNP STRIP1 ENST00000369795 human ensembl 74_37 +1 known missense c.1918 p.V640M 1.000 pfam_DUF3402 pfam_DUF3402,pfam_N1221 - no_errors STRIP1 HGNC ENSG00000143093 34 0 0 54 9 14.2857 STRIP1 0 genome.wustl.edu 37 1 110593031 110593031 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 110593031 110593031 G A SNP STRIP1 ENST00000369795 human ensembl 74_37 +1 known silent c.1956 p.L652 1.000 pfam_DUF3402 pfam_DUF3402,pfam_N1221 - no_errors STRIP1 HGNC ENSG00000143093 23 0 0 43 6 12.2449 CSDE1 0 genome.wustl.edu 37 1 115261289 115261289 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 115261289 115261289 G A SNP CSDE1 ENST00000369530 human ensembl 74_37 -1 known missense c.2339 p.A780V 1.000 NULL pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot - no_errors CSDE1 HGNC ENSG00000009307 51 0 0 54 8 12.9032 PRAMEF12 0 genome.wustl.edu 37 1 12835720 12835720 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 12835720 12835720 G A SNP PRAMEF12 ENST00000357726 human ensembl 74_37 +1 known missense c.322 p.V108M 0.000 NULL NULL - no_errors PRAMEF12 HGNC ENSG00000116726 170 0 0 169 26 13.3333 ATAD3C 0 genome.wustl.edu 37 1 1390849 1390849 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 1390849 1390849 C T SNP ATAD3C ENST00000378785 human ensembl 74_37 +1 known missense c.388 p.R130W 1.000 superfamily_P-loop_NTPase pfam_DUF3523,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD3C HGNC ENSG00000215915 40 0 0 30 3 9.09091 SV2A 0 genome.wustl.edu 37 1 149885257 149885257 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 149885257 149885257 A G SNP SV2A ENST00000369146 human ensembl 74_37 -1 known missense c.136 p.Y46H 1.000 tigrfam_SV2 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2A HGNC ENSG00000159164 85 0 0 83 20 19.4175 OTUD7B 0 genome.wustl.edu 37 1 149949436 149949436 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 149949436 149949436 C T SNP OTUD7B ENST00000369135 human ensembl 74_37 -1 known missense c.10 p.D4N 1.000 superfamily_UBA-like pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7B HGNC ENSG00000163113 75 0 0 66 20 23.2558 RFX5 0 genome.wustl.edu 37 1 151316303 151316303 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 151316303 151316303 G A SNP RFX5 ENST00000290524 human ensembl 74_37 -1 known missense c.611 p.A204V 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX5 HGNC ENSG00000143390 110 0 0 79 20 20.202 MRPL9 0 genome.wustl.edu 37 1 151733319 151733319 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 151733319 151733319 C T SNP MRPL9 ENST00000368830 human ensembl 74_37 -1 known silent c.645 p.R215 0.994 NULL pfam_Ribosomal_L9_N,superfamily_Ribosomal_L9/RNase_H1_N - no_errors MRPL9 HGNC ENSG00000143436 39 0 0 52 10 16.129 THEM4 0 genome.wustl.edu 37 1 151849481 151849481 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 151849481 151849481 C T SNP THEM4 ENST00000368814 human ensembl 74_37 -1 known silent c.678 p.A226 0.686 NULL pfam_Thioestr_supf - no_errors THEM4 HGNC ENSG00000159445 105 0 0 87 36 29.2683 FLG 0 genome.wustl.edu 37 1 152278793 152278793 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 152278793 152278793 G A SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.8569 p.R2857C 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 360 0 0 333 79 19.1748 SPRR2B 0 genome.wustl.edu 37 1 153043248 153043248 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 153043248 153043248 C T SNP SPRR2B ENST00000341611 human ensembl 74_37 -1 known missense c.68 p.C23Y 0.310 NULL NULL - no_errors SPRR2B HGNC ENSG00000196805 48 0 0 43 7 14 SLC39A1 0 genome.wustl.edu 37 1 153932722 153932722 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 153932722 153932722 T C SNP SLC39A1 ENST00000310483 human ensembl 74_37 -1 known missense c.827 p.E276G 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A1 HGNC ENSG00000143570 63 0 0 64 24 27.2727 SLC39A1 0 genome.wustl.edu 37 1 153934820 153934820 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 153934820 153934820 C T SNP SLC39A1 ENST00000310483 human ensembl 74_37 -1 known missense c.194 p.R65H 0.999 pfam_ZIP pfam_ZIP - no_errors SLC39A1 HGNC ENSG00000143570 67 0 0 51 16 23.8806 ZBTB7B 0 genome.wustl.edu 37 1 154987844 154987844 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 154987844 154987844 G T SNP ZBTB7B ENST00000417934 human ensembl 74_37 +1 known missense c.810 p.E270D 0.841 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 ZBTB7B HGNC ENSG00000160685 30 0 0 35 3 7.89474 ADAM15 0 genome.wustl.edu 37 1 155030333 155030333 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 155030333 155030333 C A SNP ADAM15 ENST00000356955 human ensembl 74_37 +1 known missense c.1423 p.P475T 0.170 pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM15 HGNC ENSG00000143537 89 0 0 93 32 25.6 EFNA1 0 genome.wustl.edu 37 1 155103890 155103890 + Missense_Mutation SNP T T A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 155103890 155103890 T A SNP EFNA1 ENST00000368407 human ensembl 74_37 +1 known missense c.168 p.D56E 0.975 pfam_Ephrin,superfamily_Cupredoxin pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNA1 HGNC ENSG00000169242 64 0 0 48 9 15.7895 SYT11 0 genome.wustl.edu 37 1 155837764 155837764 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 155837764 155837764 C T SNP SYT11 ENST00000368324 human ensembl 74_37 +1 known missense c.43 p.P15S 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT11 HGNC ENSG00000132718 29 0 0 46 8 14.8148 KIAA0907 0 genome.wustl.edu 37 1 155885594 155885594 + RNA SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 155885594 155885594 G A SNP KIAA0907 ENST00000465953 human ensembl 74_37 -1 known rna NULL NULL 0.166 - - - no_errors KIAA0907 HGNC ENSG00000132680 143 0 0 153 40 20.7254 ARHGEF2 0 genome.wustl.edu 37 1 155939051 155939051 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 155939051 155939051 C T SNP ARHGEF2 ENST00000368315 human ensembl 74_37 -1 known missense c.107 p.R36H 1.000 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 64 0 0 79 18 18.5567 TMEM79 0 genome.wustl.edu 37 1 156256115 156256115 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 156256115 156256115 G A SNP TMEM79 ENST00000357501 human ensembl 74_37 +1 known missense c.106 p.A36T 0.384 NULL NULL - no_errors TMEM79 HGNC ENSG00000163472 92 0 0 94 26 21.6667 TTC24 0 genome.wustl.edu 37 1 156552170 156552170 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 156552170 156552170 C T SNP TTC24 ENST00000368236 human ensembl 74_37 +1 known missense c.854 p.A285V 1.000 pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC24 HGNC ENSG00000187862 19 0 0 22 5 18.5185 ISG20L2 0 genome.wustl.edu 37 1 156696887 156696887 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 156696887 156696887 C T SNP ISG20L2 ENST00000313146 human ensembl 74_37 -1 known missense c.558 p.M186I 1.000 pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors ISG20L2 HGNC ENSG00000143319 142 0 0 116 34 22.6667 HDGF 0 genome.wustl.edu 37 1 156714103 156714103 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 156714103 156714103 G T SNP HDGF ENST00000368206 human ensembl 74_37 -1 known missense c.389 p.P130Q 0.055 NULL pfam_PWWP_dom - no_errors HDGF HGNC ENSG00000143321 364 1 0.273973 318 116 26.7281 PRCC 0 genome.wustl.edu 37 1 156767101 156767101 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 156767101 156767101 C T SNP PRCC ENST00000271526 human ensembl 74_37 +1 known missense c.1357 p.R453W 1.000 pfam_PRCC pfam_PRCC - no_errors PRCC HGNC ENSG00000143294 104 0 0 123 10 7.5188 INSRR 0 genome.wustl.edu 37 1 156823941 156823941 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 156823941 156823941 G A SNP INSRR ENST00000368195 human ensembl 74_37 -1 known silent c.240 p.T80 0.959 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSRR HGNC ENSG00000027644 54 0 0 46 6 11.5385 ARHGEF11 0 genome.wustl.edu 37 1 156909626 156909626 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 156909626 156909626 G A SNP ARHGEF11 ENST00000368194 human ensembl 74_37 -1 known silent c.3810 p.P1270 0.240 NULL pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,pfam_RGS_dom,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_DH-domain - no_errors ARHGEF11 HGNC ENSG00000132694 44 0 0 44 7 13.7255 FCRL3 0 genome.wustl.edu 37 1 157668338 157668338 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 157668338 157668338 C T SNP FCRL3 ENST00000492769 human ensembl 74_37 -1 known missense c.134 p.S45N 0.004 smart_Ig_sub,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL3 HGNC ENSG00000160856 62 0 0 59 14 19.1781 KLHDC9 0 genome.wustl.edu 37 1 161069416 161069416 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 161069416 161069416 T C SNP KLHDC9 ENST00000368011 human ensembl 74_37 +1 known missense c.716 p.M239T 0.153 superfamily_Gal_Oxase/kelch_b-propeller superfamily_Gal_Oxase/kelch_b-propeller - no_errors KLHDC9 HGNC ENSG00000162755 251 0 0 308 53 14.6814 SPEN 0 genome.wustl.edu 37 1 16261498 16261498 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 16261498 16261498 G A SNP SPEN ENST00000375759 human ensembl 74_37 +1 known silent c.8763 p.T2921 0.717 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 32 0 0 17 2 10.5263 RGS4 0 genome.wustl.edu 37 1 163043401 163043401 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 163043401 163043401 G A SNP RGS4 ENST00000421743 human ensembl 74_37 +1 known missense c.658 p.A220T 1.000 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS4 HGNC ENSG00000117152 12 0 0 21 6 22.2222 SLC9C2 0 genome.wustl.edu 37 1 173545802 173545802 + Silent SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 173545802 173545802 A G SNP SLC9C2 ENST00000367714 human ensembl 74_37 -1 known silent c.900 p.T300 1.000 pfam_Cation/H_exchanger pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC ENSG00000162753 21 0 0 24 8 25 RC3H1 0 genome.wustl.edu 37 1 173950010 173950010 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 173950010 173950010 C T SNP RC3H1 ENST00000258349 human ensembl 74_37 -1 known silent c.906 p.Q302 1.000 NULL pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H1 HGNC ENSG00000135870 31 0 0 32 12 27.2727 TNN 0 genome.wustl.edu 37 1 175048557 175048557 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 175048557 175048557 C T SNP TNN ENST00000239462 human ensembl 74_37 +1 known silent c.498 p.C166 1.000 NULL pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 11 0 0 9 4 30.7692 SOAT1 0 genome.wustl.edu 37 1 179314166 179314166 + Missense_Mutation SNP A A C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 179314166 179314166 A C SNP SOAT1 ENST00000367619 human ensembl 74_37 +1 known missense c.1072 p.S358R 1.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors SOAT1 HGNC ENSG00000057252 79 0 0 101 26 20.4724 AXDND1 0 genome.wustl.edu 37 1 179364323 179364323 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 179364323 179364323 G A SNP AXDND1 ENST00000367618 human ensembl 74_37 +1 known silent c.1095 p.A365 0.974 NULL pfam_Axonemal_dynein_light_chain - no_errors AXDND1 HGNC ENSG00000162779 137 0 0 195 20 9.30233 DHX9 0 genome.wustl.edu 37 1 182853799 182853799 + Silent SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 182853799 182853799 G T SNP DHX9 ENST00000367549 human ensembl 74_37 +1 known silent c.3312 p.R1104 0.987 NULL pfam_dsRNA-bd_dom,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_dsRNA-bd_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom - no_errors DHX9 HGNC ENSG00000135829 31 0 0 33 10 23.2558 HMCN1 0 genome.wustl.edu 37 1 185833648 185833648 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 185833648 185833648 C A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.386 p.A129D 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 51 0 0 48 14 22.5806 KLHDC7A 0 genome.wustl.edu 37 1 18809705 18809705 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 18809705 18809705 A G SNP KLHDC7A ENST00000400664 human ensembl 74_37 +1 known missense c.2230 p.R744G 1.000 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7A HGNC ENSG00000179023 80 0 0 73 19 20.6522 ASPM 0 genome.wustl.edu 37 1 197094202 197094202 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 197094202 197094202 C T SNP ASPM ENST00000367409 human ensembl 74_37 -1 known missense c.3056 p.R1019Q 0.634 superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,pfscan_CH-domain pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 27 0 0 40 6 13.0435 NBL1 0 genome.wustl.edu 37 1 19981835 19981835 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 19981835 19981835 C T SNP NBL1 ENST00000289749 human ensembl 74_37 +1 known silent c.294 p.C98 0.999 pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C - no_errors NBL1 HGNC ENSG00000158747 93 0 0 80 8 9.09091 IGFN1 0 genome.wustl.edu 37 1 201183365 201183365 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 201183365 201183365 C T SNP IGFN1 ENST00000335211 human ensembl 74_37 +1 known missense c.8789 p.A2930V 0.112 pfam_Ig_I-set,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 IGFN1 HGNC ENSG00000163395 54 0 0 43 10 18.8679 TNNT2 0 genome.wustl.edu 37 1 201342301 201342301 + RNA SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 201342301 201342301 G A SNP TNNT2 ENST00000466570 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TNNT2 HGNC ENSG00000118194 127 0 0 92 38 29.2308 NAV1 0 genome.wustl.edu 37 1 201682022 201682022 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 201682022 201682022 C A SNP NAV1 ENST00000367296 human ensembl 74_37 +1 known missense c.835 p.L279M 1.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 107 1 0.925926 98 20 16.9492 NAV1 0 genome.wustl.edu 37 1 201780773 201780773 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 201780773 201780773 C T SNP NAV1 ENST00000367296 human ensembl 74_37 +1 known missense c.4840 p.R1614W 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 175 0 0 151 31 17.033 TIMM17A 0 genome.wustl.edu 37 1 201926416 201926416 + Nonsense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 201926416 201926416 C T SNP TIMM17A ENST00000367287 human ensembl 74_37 +1 known nonsense c.34 p.R12* 0.998 pfam_Tim17/Tim22/Tim23/PMP24,tigrfam_Tim17 pfam_Tim17/Tim22/Tim23/PMP24,tigrfam_Tim17 - no_errors TIMM17A HGNC ENSG00000134375 54 0 0 48 21 30.4348 PPP1R12B 0 genome.wustl.edu 37 1 202386024 202386024 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 202386024 202386024 G A SNP PPP1R12B ENST00000336894 human ensembl 74_37 +1 known missense c.401 p.C134Y 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12B HGNC ENSG00000077157 153 0 0 139 44 24.0437 KLHL12 0 genome.wustl.edu 37 1 202894275 202894275 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 202894275 202894275 C T SNP KLHL12 ENST00000435533 human ensembl 74_37 -1 known missense c.130 p.A44T 1.000 superfamily_BTB/POZ_fold,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL12 HGNC ENSG00000117153 85 0 0 83 9 9.78261 NFASC 0 genome.wustl.edu 37 1 204948564 204948564 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 204948564 204948564 G A SNP NFASC ENST00000367172 human ensembl 74_37 +1 known missense c.2053 p.V685I 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NFASC HGNC ENSG00000163531 124 0 0 118 32 21.3333 IKBKE 0 genome.wustl.edu 37 1 206648304 206648304 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 206648304 206648304 G A SNP IKBKE ENST00000367120 human ensembl 74_37 +1 known missense c.325 p.E109K 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 IKBKE HGNC ENSG00000143466 70 0 0 75 9 10.7143 CR1 0 genome.wustl.edu 37 1 207789961 207789961 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 207789961 207789961 C T SNP CR1 ENST00000367049 human ensembl 74_37 +1 known missense c.6703 p.H2235Y 0.012 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1 HGNC ENSG00000203710 102 0 0 116 14 10.7692 CD34 0 genome.wustl.edu 37 1 208062131 208062131 + Missense_Mutation SNP T T A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 208062131 208062131 T A SNP CD34 ENST00000310833 human ensembl 74_37 -1 known missense c.868 p.T290S 1.000 pfam_CD34/Podocalyxin,prints_CD34 pfam_CD34/Podocalyxin,prints_CD34 - no_errors CD34 HGNC ENSG00000174059 223 0 0 227 38 14.3396 PLXNA2 0 genome.wustl.edu 37 1 208390710 208390710 + Silent SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 208390710 208390710 C A SNP PLXNA2 ENST00000367033 human ensembl 74_37 -1 known silent c.558 p.T186 0.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA2 HGNC ENSG00000076356 197 0 0 187 33 15 HHAT 0 genome.wustl.edu 37 1 210536201 210536201 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 210536201 210536201 G A SNP HHAT ENST00000391905 human ensembl 74_37 +1 known missense c.97 p.E33K 1.000 NULL pfam_MBOAT_fam - no_errors HHAT HGNC ENSG00000054392 61 0 0 56 8 12.5 KCNH1 0 genome.wustl.edu 37 1 211192138 211192138 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 211192138 211192138 C T SNP KCNH1 ENST00000271751 human ensembl 74_37 -1 known missense c.1019 p.G340E 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH1 HGNC ENSG00000143473 90 0 0 84 24 22.2222 CENPF 0 genome.wustl.edu 37 1 214815734 214815734 + Silent SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 214815734 214815734 T C SNP CENPF ENST00000366955 human ensembl 74_37 +1 known silent c.4053 p.D1351 0.040 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 46 0 0 59 9 13.2353 KCTD3 0 genome.wustl.edu 37 1 215785202 215785202 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 215785202 215785202 A G SNP KCTD3 ENST00000259154 human ensembl 74_37 +1 known missense c.1501 p.I501V 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like - no_errors KCTD3 HGNC ENSG00000136636 60 0 0 85 6 6.59341 USP48 0 genome.wustl.edu 37 1 22016488 22016488 + Silent SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 22016488 22016488 A G SNP USP48 ENST00000308271 human ensembl 74_37 -1 known silent c.2988 p.P996 0.944 pfscan_Ubiquitin_supergroup pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC ENSG00000090686 58 0 0 46 10 17.8571 SUSD4 0 genome.wustl.edu 37 1 223396620 223396620 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 223396620 223396620 G A SNP SUSD4 ENST00000343846 human ensembl 74_37 -1 known missense c.1415 p.S472F 1.000 NULL pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors SUSD4 HGNC ENSG00000143502 91 0 0 69 18 20.6897 SKI 0 genome.wustl.edu 37 1 2235472 2235472 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 2235472 2235472 G A SNP SKI ENST00000378536 human ensembl 74_37 +1 known missense c.1405 p.A469T 0.018 NULL pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put - no_errors SKI HGNC ENSG00000157933 12 0 0 19 6 24 OBSCN 0 genome.wustl.edu 37 1 228547976 228547976 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 228547976 228547976 C T SNP OBSCN ENST00000366709 human ensembl 74_37 +1 known silent c.10740 p.G3580 0.101 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_DH-domain,pfam_Fibronectin_type3,pfam_IQ_motif_EF-hand-BS,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 48 0 0 35 12 25.5319 OBSCN 0 genome.wustl.edu 37 1 228550291 228550291 + Nonsense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 228550291 228550291 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known nonsense c.18676 p.R6226* 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 36 0 0 36 5 12.1951 TRIM11 0 genome.wustl.edu 37 1 228584848 228584848 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 228584848 228584848 G A SNP TRIM11 ENST00000284551 human ensembl 74_37 -1 known missense c.754 p.R252C 0.136 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM11 HGNC ENSG00000154370 79 0 0 77 13 14.4444 EPHA8 0 genome.wustl.edu 37 1 22923860 22923860 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 22923860 22923860 C T SNP EPHA8 ENST00000166244 human ensembl 74_37 +1 known silent c.1821 p.P607 1.000 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Kinase-like_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA8 HGNC ENSG00000070886 96 0 0 82 8 8.88889 GALNT2 0 genome.wustl.edu 37 1 230372444 230372444 + Nonsense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 230372444 230372444 C T SNP GALNT2 ENST00000366672 human ensembl 74_37 +1 known nonsense c.580 p.R194* 0.993 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT2 HGNC ENSG00000143641 80 0 0 97 7 6.73077 TTC13 0 genome.wustl.edu 37 1 231067185 231067185 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 231067185 231067185 A G SNP TTC13 ENST00000366661 human ensembl 74_37 -1 known missense c.1159 p.C387R 1.000 pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC13 HGNC ENSG00000143643 90 0 0 70 22 23.913 EXOC8 0 genome.wustl.edu 37 1 231472660 231472660 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 231472660 231472660 C T SNP EXOC8 ENST00000360394 human ensembl 74_37 -1 known missense c.832 p.E278K 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology superfamily_Cullin_repeat-like_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors EXOC8 HGNC ENSG00000116903 51 0 0 75 12 13.7931 EPHB2 0 genome.wustl.edu 37 1 23240030 23240030 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 23240030 23240030 G A SNP EPHB2 ENST00000400191 human ensembl 74_37 +1 known silent c.2928 p.A976 0.688 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB2 HGNC ENSG00000133216 68 0 0 77 6 7.22892 PCNXL2 0 genome.wustl.edu 37 1 233134179 233134179 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 233134179 233134179 C T SNP PCNXL2 ENST00000258229 human ensembl 74_37 -1 known missense c.5609 p.R1870Q 1.000 NULL pfam_Pecanex,superfamily_Trypsin-like_Pept_dom - no_errors PCNXL2 HGNC ENSG00000135749 50 0 0 60 9 13.0435 LYST 0 genome.wustl.edu 37 1 235884029 235884029 + Silent SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 235884029 235884029 A G SNP LYST ENST00000389793 human ensembl 74_37 -1 known silent c.9492 p.P3164 0.998 pfam_BEACH_dom,superfamily_BEACH_dom,superfamily_ARM-type_fold,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 146 0 0 121 42 25.7669 HEATR1 0 genome.wustl.edu 37 1 236721600 236721600 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 236721600 236721600 G A SNP HEATR1 ENST00000366582 human ensembl 74_37 -1 known missense c.5141 p.A1714V 1.000 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 54 0 0 52 27 34.1772 FMN2 0 genome.wustl.edu 37 1 240256069 240256069 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 240256069 240256069 G A SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known silent c.660 p.Q220 0.977 NULL pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 10 0 0 6 4 40 CEP170 0 genome.wustl.edu 37 1 243349656 243349656 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 243349656 243349656 G A SNP CEP170 ENST00000366542 human ensembl 74_37 -1 known missense c.1177 p.R393C 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170 HGNC ENSG00000143702 65 0 0 80 15 15.7895 AKT3 0 genome.wustl.edu 37 1 243809301 243809301 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 243809301 243809301 C A SNP AKT3 ENST00000263826 human ensembl 74_37 -1 known missense c.323 p.R108I 1.000 smart_Pleckstrin_homology pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom - no_errors AKT3 HGNC ENSG00000117020 52 0 0 44 10 18.5185 KIF26B 0 genome.wustl.edu 37 1 245583006 245583006 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 245583006 245583006 G A SNP KIF26B ENST00000407071 human ensembl 74_37 +1 known silent c.1125 p.E375 0.943 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 96 0 0 81 21 20.5882 SMYD3 0 genome.wustl.edu 37 1 245912889 245912889 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 245912889 245912889 G A SNP SMYD3 ENST00000388985 human ensembl 74_37 -1 known silent c.1263 p.C421 0.898 NULL pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD3 HGNC ENSG00000185420 44 0 0 42 10 19.2308 STPG1 0 genome.wustl.edu 37 1 24685105 24685105 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 24685105 24685105 C T SNP STPG1 ENST00000337248 human ensembl 74_37 -1 known silent c.933 p.T311 0.000 NULL NULL - no_errors STPG1 HGNC ENSG00000001460 41 0 0 45 5 10 OR2M3 0 genome.wustl.edu 37 1 248367150 248367150 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 248367150 248367150 C T SNP OR2M3 ENST00000456743 human ensembl 74_37 +1 known missense c.781 p.R261W 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M3 HGNC ENSG00000228198 177 1 0.561798 175 47 21.1712 FAM213B 0 genome.wustl.edu 37 1 2520890 2520890 + RNA SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 2520890 2520890 G A SNP FAM213B ENST00000464043 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FAM213B HGNC ENSG00000157870 47 0 0 35 6 14.6341 CATSPER4 0 genome.wustl.edu 37 1 26517914 26517914 + Missense_Mutation SNP T T A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 26517914 26517914 T A SNP CATSPER4 ENST00000456354 human ensembl 74_37 +1 known missense c.350 p.L117Q 0.037 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER4 HGNC ENSG00000188782 50 0 0 57 3 5 ZDHHC18 0 genome.wustl.edu 37 1 27179250 27179250 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 27179250 27179250 G T SNP ZDHHC18 ENST00000374142 human ensembl 74_37 +1 known missense c.943 p.G315C 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC18 HGNC ENSG00000204160 54 0 0 58 13 18.3099 NUDC 0 genome.wustl.edu 37 1 27269429 27269429 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 27269429 27269429 G A SNP NUDC ENST00000321265 human ensembl 74_37 +1 known missense c.614 p.R205Q 1.000 pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom - no_errors NUDC HGNC ENSG00000090273 62 0 0 53 14 20.8955 SLC9A1 0 genome.wustl.edu 37 1 27426886 27426886 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 27426886 27426886 C A SNP SLC9A1 ENST00000263980 human ensembl 74_37 -1 known missense c.2360 p.S787I 0.905 prints_Na/H_exchanger_1 pfam_Cation/H_exchanger,prints_Na/H_exchanger_1,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A1 HGNC ENSG00000090020 41 0 0 39 5 11.3636 SNORD99 0 genome.wustl.edu 37 1 28905278 28905278 + RNA SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 28905278 28905278 T C SNP SNORD99 ENST00000408612 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SNORD99 HGNC ENSG00000221539 274 0 0 224 44 16.4179 EPB41 0 genome.wustl.edu 37 1 29379779 29379779 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 29379779 29379779 C T SNP EPB41 ENST00000343067 human ensembl 74_37 +1 known silent c.1800 p.D600 0.012 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain - no_errors EPB41 HGNC ENSG00000159023 58 0 0 60 6 9.09091 PTPRU 0 genome.wustl.edu 37 1 29585071 29585071 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 29585071 29585071 T C SNP PTPRU ENST00000345512 human ensembl 74_37 +1 known missense c.260 p.V87A 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC ENSG00000060656 323 0 0 302 41 11.9534 HPCA 0 genome.wustl.edu 37 1 33354832 33354832 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 33354832 33354832 C T SNP HPCA ENST00000373467 human ensembl 74_37 +1 known silent c.333 p.D111 0.410 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 HPCA HGNC ENSG00000121905 51 0 0 44 8 15.3846 CSMD2 0 genome.wustl.edu 37 1 33998768 33998768 + Silent SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 33998768 33998768 G T SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known silent c.10053 p.P3351 0.866 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 30 0 0 22 3 12 AGO1 0 genome.wustl.edu 37 1 36381048 36381048 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 36381048 36381048 C T SNP AGO1 ENST00000373204 human ensembl 74_37 +1 known missense c.1933 p.R645C 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO1 HGNC ENSG00000092847 90 0 0 74 23 23.7113 AGO1 0 genome.wustl.edu 37 1 36384702 36384702 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 36384702 36384702 G A SNP AGO1 ENST00000373204 human ensembl 74_37 +1 known missense c.2312 p.R771H 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO1 HGNC ENSG00000092847 60 0 0 47 20 29.8507 EPHA10 0 genome.wustl.edu 37 1 38185131 38185131 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 38185131 38185131 A G SNP EPHA10 ENST00000427468 human ensembl 74_37 -1 known missense c.2711 p.V904A 0.996 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA10 HGNC ENSG00000183317 25 0 0 29 3 9.375 EPHA10 0 genome.wustl.edu 37 1 38197252 38197252 + Silent SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 38197252 38197252 A G SNP EPHA10 ENST00000427468 human ensembl 74_37 -1 known silent c.1494 p.G498 0.998 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA10 HGNC ENSG00000183317 78 0 0 76 11 12.6437 PPT1 0 genome.wustl.edu 37 1 40557020 40557020 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 40557020 40557020 C T SNP PPT1 ENST00000433473 human ensembl 74_37 -1 known silent c.414 p.S138 0.000 pfam_Palm_thioest pfam_Palm_thioest,prints_Palm_thioest - no_errors PPT1 HGNC ENSG00000131238 55 0 0 35 3 7.89474 RLF 0 genome.wustl.edu 37 1 40702683 40702683 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 40702683 40702683 G A SNP RLF ENST00000372771 human ensembl 74_37 +1 known missense c.2309 p.R770H 0.999 pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RLF HGNC ENSG00000117000 130 0 0 110 31 21.9858 TMCO2 0 genome.wustl.edu 37 1 40717165 40717165 + Nonsense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 40717165 40717165 C T SNP TMCO2 ENST00000372766 human ensembl 74_37 +1 known nonsense c.448 p.Q150* 0.604 NULL NULL - no_errors TMCO2 HGNC ENSG00000188800 42 0 0 48 4 7.69231 PPCS 0 genome.wustl.edu 37 1 42922652 42922652 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 42922652 42922652 C T SNP PPCS ENST00000372561 human ensembl 74_37 +1 known missense c.416 p.A139V 0.577 pfam_DNA/pantothenate-metab_flavo_C,superfamily_DNA/pantothenate-metab_flavo_C pfam_DNA/pantothenate-metab_flavo_C,superfamily_DNA/pantothenate-metab_flavo_C - no_errors PPCS HGNC ENSG00000127125 63 0 0 51 3 5.55556 PTPRF 0 genome.wustl.edu 37 1 44035429 44035429 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 44035429 44035429 G A SNP PTPRF ENST00000359947 human ensembl 74_37 +1 known missense c.548 p.R183H 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC ENSG00000142949 20 0 0 37 8 17.7778 RNF220 0 genome.wustl.edu 37 1 45115297 45115297 + RNA SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 45115297 45115297 C T SNP RNF220 ENST00000474956 human ensembl 74_37 +1 known rna NULL NULL 0.012 - - - no_errors RNF220 HGNC ENSG00000187147 89 0 0 59 12 16.9014 NRD1 0 genome.wustl.edu 37 1 52293532 52293532 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 52293532 52293532 C T SNP NRD1 ENST00000354831 human ensembl 74_37 -1 known silent c.1080 p.Q360 1.000 pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors NRD1 HGNC ENSG00000078618 70 0 0 70 9 11.3924 ORC1 0 genome.wustl.edu 37 1 52862005 52862005 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 52862005 52862005 G A SNP ORC1 ENST00000371566 human ensembl 74_37 -1 known missense c.434 p.P145L 0.648 pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom pfam_BAH_dom,pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,pfam_DUF2075,superfamily_P-loop_NTPase,smart_BAH_dom,smart_AAA+_ATPase,pfscan_BAH_dom - no_errors ORC1 HGNC ENSG00000085840 92 0 0 100 7 6.54206 CYB5RL 0 genome.wustl.edu 37 1 54649860 54649860 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 54649860 54649860 C T SNP CYB5RL ENST00000419823 human ensembl 74_37 -1 known missense c.514 p.G172R 0.990 pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Phe_hydroxylase pfam_OxRdtase_FAD-bd_dom,pfam_Oxidoreductase-like_N,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Phe_hydroxylase - no_errors CYB5RL HGNC ENSG00000215883 26 0 0 24 5 17.2414 MROH7-TTC4 0 genome.wustl.edu 37 1 55151960 55151960 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 55151960 55151960 C T SNP MROH7-TTC4 ENST00000414150 human ensembl 74_37 +1 known silent c.2550 p.S850 0.316 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH7-TTC4 HGNC ENSG00000271723 32 0 0 32 6 15.7895 C1orf177 0 genome.wustl.edu 37 1 55272709 55272709 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 55272709 55272709 A G SNP C1orf177 ENST00000371273 human ensembl 74_37 +1 known missense c.145 p.S49G 0.569 NULL NULL - no_errors C1orf177 HGNC ENSG00000162398 222 0 0 171 48 21.9178 PCSK9 0 genome.wustl.edu 37 1 55509619 55509619 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 55509619 55509619 G A SNP PCSK9 ENST00000302118 human ensembl 74_37 +1 known missense c.311 p.R104H 0.928 pfam_Inhibitor_I9,superfamily_Prot_inh_propept pfam_Peptidase_S8/S53_dom,pfam_Inhibitor_I9,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK9 HGNC ENSG00000169174 52 0 0 42 8 16 PCSK9 0 genome.wustl.edu 37 1 55517884 55517884 + RNA SNP T T G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 55517884 55517884 T G SNP PCSK9 ENST00000490692 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PCSK9 HGNC ENSG00000169174 60 0 0 57 12 17.3913 RAVER2 0 genome.wustl.edu 37 1 65272888 65272888 + Splice_Site SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 65272888 65272888 G A SNP RAVER2 ENST00000294428 human ensembl 74_37 +1 known splice_site c.1412-1 e9-1 0.839 - - - no_errors RAVER2 HGNC ENSG00000162437 35 0 0 24 10 29.4118 JAK1 0 genome.wustl.edu 37 1 65309880 65309880 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 65309880 65309880 G A SNP JAK1 ENST00000342505 human ensembl 74_37 -1 known missense c.2270 p.P757L 1.000 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors JAK1 HGNC ENSG00000162434 149 0 0 123 12 8.88889 LEPR 0 genome.wustl.edu 37 1 66102113 66102113 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 66102113 66102113 G T SNP LEPR ENST00000349533 human ensembl 74_37 +1 known missense c.2913 p.E971D 0.000 NULL pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LEPR HGNC ENSG00000116678 42 0 0 47 11 18.9655 IL23R 0 genome.wustl.edu 37 1 67685299 67685299 + Nonsense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 67685299 67685299 G T SNP IL23R ENST00000347310 human ensembl 74_37 +1 known nonsense c.841 p.E281* 0.986 superfamily_Fibronectin_type3 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL23R HGNC ENSG00000162594 54 0 0 56 11 16.4179 DEPDC1 0 genome.wustl.edu 37 1 68947138 68947138 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 68947138 68947138 C A SNP DEPDC1 ENST00000456315 human ensembl 74_37 -1 known missense c.1920 p.M640I 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 34 0 0 38 6 13.6364 DEPDC1 0 genome.wustl.edu 37 1 68948470 68948470 + Missense_Mutation SNP A A T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 68948470 68948470 A T SNP DEPDC1 ENST00000456315 human ensembl 74_37 -1 known missense c.1021 p.S341T 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 46 0 0 52 12 18.75 PTGER3 0 genome.wustl.edu 37 1 71512610 71512610 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 71512610 71512610 G T SNP PTGER3 ENST00000354608 human ensembl 74_37 -1 known missense c.651 p.N217K 0.991 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_EP3_rcpt_2 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srbc,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP3_rcpt,prints_Prostanoid_rcpt,prints_EP3_rcpt_2,prints_Prostglndn_DP_rcpt,prints_GPCR_Rhodpsn,prints_Thbox_rcpt - no_errors PTGER3 HGNC ENSG00000050628 119 0 0 103 28 21.374 PIGK 0 genome.wustl.edu 37 1 77620260 77620260 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 77620260 77620260 C T SNP PIGK ENST00000370812 human ensembl 74_37 -1 known missense c.860 p.R287H 1.000 NULL pfam_Peptidase_C13,prints_Peptidase_C13 - no_errors PIGK HGNC ENSG00000142892 44 0 0 38 7 15.5556 CAMTA1 0 genome.wustl.edu 37 1 7792623 7792623 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 7792623 7792623 C T SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known silent c.3030 p.G1010 0.999 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 25 0 0 23 6 20.6897 ZZZ3 0 genome.wustl.edu 37 1 78098731 78098731 + Missense_Mutation SNP A A T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 78098731 78098731 A T SNP ZZZ3 ENST00000370801 human ensembl 74_37 -1 known missense c.309 p.N103K 1.000 NULL pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors ZZZ3 HGNC ENSG00000036549 97 0 0 105 31 22.7941 WDR63 0 genome.wustl.edu 37 1 85546976 85546976 + Nonsense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 85546976 85546976 C T SNP WDR63 ENST00000294664 human ensembl 74_37 +1 known nonsense c.163 p.R55* 0.962 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR63 HGNC ENSG00000162643 77 0 0 75 10 11.7647 WDR63 0 genome.wustl.edu 37 1 85550330 85550330 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 85550330 85550330 C T SNP WDR63 ENST00000294664 human ensembl 74_37 +1 known silent c.492 p.G164 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR63 HGNC ENSG00000162643 62 0 0 79 8 9.1954 NOC2L 0 genome.wustl.edu 37 1 892322 892322 + Silent SNP A A C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 892322 892322 A C SNP NOC2L ENST00000327044 human ensembl 74_37 -1 known silent c.438 p.S146 0.000 NULL pfam_Noc2,superfamily_ARM-type_fold - no_errors NOC2L HGNC ENSG00000188976 161 0 0 121 25 17.1233 HFM1 0 genome.wustl.edu 37 1 91851225 91851225 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 91851225 91851225 T C SNP HFM1 ENST00000370425 human ensembl 74_37 -1 known missense c.661 p.T221A 0.002 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC ENSG00000162669 33 0 0 35 8 18.6047 TGFBR3 0 genome.wustl.edu 37 1 92174326 92174326 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 92174326 92174326 G A SNP TGFBR3 ENST00000212355 human ensembl 74_37 -1 known silent c.2181 p.D727 1.000 smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors TGFBR3 HGNC ENSG00000069702 24 0 0 14 4 22.2222 BCAR3 0 genome.wustl.edu 37 1 94140238 94140238 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 94140238 94140238 C T SNP BCAR3 ENST00000260502 human ensembl 74_37 -1 known silent c.249 p.S83 0.000 NULL pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25 - no_errors BCAR3 HGNC ENSG00000137936 38 0 0 32 4 11.1111 NKX2-3 0 genome.wustl.edu 37 10 101292889 101292889 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 101292889 101292889 A G SNP NKX2-3 ENST00000344586 human ensembl 74_37 +1 known missense c.1 p.M1V 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-3 HGNC ENSG00000119919 127 0 0 129 17 11.6438 DNMBP 0 genome.wustl.edu 37 10 101643927 101643927 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 101643927 101643927 G T SNP DNMBP ENST00000342239 human ensembl 74_37 -1 known missense c.3910 p.L1304I 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 61 0 0 84 10 10.6383 PKD2L1 0 genome.wustl.edu 37 10 102055890 102055890 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 102055890 102055890 C T SNP PKD2L1 ENST00000318222 human ensembl 74_37 -1 known missense c.1345 p.A449T 1.000 pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2 pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2,prints_PKD_1 - no_errors PKD2L1 HGNC ENSG00000107593 101 0 0 90 5 5.26316 PPRC1 0 genome.wustl.edu 37 10 103899081 103899081 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 103899081 103899081 G A SNP PPRC1 ENST00000278070 human ensembl 74_37 +1 known silent c.816 p.P272 0.731 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPRC1 HGNC ENSG00000148840 115 0 0 129 15 10.4167 GBF1 0 genome.wustl.edu 37 10 104128502 104128502 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 104128502 104128502 C T SNP GBF1 ENST00000369983 human ensembl 74_37 +1 known silent c.2883 p.C961 1.000 NULL pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors GBF1 HGNC ENSG00000107862 70 0 0 63 21 25 PSD 0 genome.wustl.edu 37 10 104173625 104173625 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 104173625 104173625 T C SNP PSD ENST00000020673 human ensembl 74_37 -1 known missense c.1454 p.E485G 0.997 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD HGNC ENSG00000059915 59 0 0 35 11 23.913 GPAM 0 genome.wustl.edu 37 10 113928224 113928224 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 113928224 113928224 C T SNP GPAM ENST00000348367 human ensembl 74_37 -1 known missense c.953 p.R318H 1.000 pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors GPAM HGNC ENSG00000119927 88 0 0 69 21 23.3333 ADRB1 0 genome.wustl.edu 37 10 115804508 115804508 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 115804508 115804508 C T SNP ADRB1 ENST00000369295 human ensembl 74_37 +1 known missense c.617 p.A206V 0.999 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_ADRB1_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,prints_5HT6_rcpt - no_errors ADRB1 HGNC ENSG00000043591 26 0 0 22 6 21.4286 CACUL1 0 genome.wustl.edu 37 10 120489879 120489879 + Nonsense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 120489879 120489879 C T SNP CACUL1 ENST00000369151 human ensembl 74_37 -1 known nonsense c.411 p.W137* 1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,superfamily_Cullin_repeat-like_dom - no_errors CACUL1 HGNC ENSG00000151893 30 0 0 40 7 14.8936 PSTK 0 genome.wustl.edu 37 10 124746902 124746902 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 124746902 124746902 G A SNP PSTK ENST00000368887 human ensembl 74_37 +1 known silent c.930 p.A310 0.000 NULL pfam_Chromatin_KTI12,superfamily_P-loop_NTPase,tigrfam_L-seryl-tRNA_Sec_kinase_euk - no_errors PSTK HGNC ENSG00000179988 46 0 0 43 14 24.5614 CHST15 0 genome.wustl.edu 37 10 125769742 125769742 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 125769742 125769742 G A SNP CHST15 ENST00000346248 human ensembl 74_37 -1 known missense c.1609 p.R537W 0.156 superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors CHST15 HGNC ENSG00000182022 26 0 0 26 7 21.2121 CTBP2 0 genome.wustl.edu 37 10 126694223 126694223 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 126694223 126694223 G A SNP CTBP2 ENST00000334808 human ensembl 74_37 -1 putative missense c.155 p.S52L 0.001 NULL pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom - no_errors CTBP2 HGNC ENSG00000175029 37 0 0 36 4 10 PTPRE 0 genome.wustl.edu 37 10 129868017 129868017 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 129868017 129868017 G A SNP PTPRE ENST00000254667 human ensembl 74_37 +1 known missense c.1069 p.A357T 0.005 pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRE HGNC ENSG00000132334 122 0 0 140 18 11.3924 MKI67 0 genome.wustl.edu 37 10 129907238 129907238 + Nonsense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 129907238 129907238 G A SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known nonsense c.2866 p.Q956* 0.000 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 91 0 0 97 23 19.1667 PAOX 0 genome.wustl.edu 37 10 135193657 135193657 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 135193657 135193657 C T SNP PAOX ENST00000278060 human ensembl 74_37 +1 known silent c.336 p.S112 0.041 pfam_Amino_oxidase pfam_Amino_oxidase - no_errors PAOX HGNC ENSG00000148832 28 0 0 9 7 43.75 FAM171A1 0 genome.wustl.edu 37 10 15255359 15255359 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 15255359 15255359 C A SNP FAM171A1 ENST00000378116 human ensembl 74_37 -1 known missense c.2228 p.G743V 1.000 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC ENSG00000148468 66 0 0 84 21 20 ARHGAP21 0 genome.wustl.edu 37 10 24909067 24909067 + Missense_Mutation SNP A A T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 24909067 24909067 A T SNP ARHGAP21 ENST00000396432 human ensembl 74_37 -1 known missense c.1757 p.I586N 0.049 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP21 HGNC ENSG00000107863 132 0 0 97 25 20.4918 LRRC37A6P 0 genome.wustl.edu 37 10 27536539 27536539 + RNA SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 27536539 27536539 G A SNP LRRC37A6P ENST00000284414 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LRRC37A6P HGNC ENSG00000230445 23 0 0 26 3 10.3448 WAC 0 genome.wustl.edu 37 10 28905168 28905168 + Silent SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 28905168 28905168 A G SNP WAC ENST00000354911 human ensembl 74_37 +1 known silent c.1623 p.T541 1.000 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WAC HGNC ENSG00000095787 113 0 0 82 26 24.0741 ZMYND11 0 genome.wustl.edu 37 10 298288 298288 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 298288 298288 T C SNP ZMYND11 ENST00000381591 human ensembl 74_37 +1 known missense c.1687 p.C563R 1.000 pfscan_Znf_MYND pfam_PWWP_dom,pfam_Bromodomain,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND11 HGNC ENSG00000015171 269 0 0 278 17 5.76271 KIAA1462 0 genome.wustl.edu 37 10 30316027 30316027 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 30316027 30316027 G A SNP KIAA1462 ENST00000375377 human ensembl 74_37 -1 known missense c.3050 p.A1017V 0.000 NULL NULL - no_errors KIAA1462 HGNC ENSG00000165757 103 0 0 96 20 17.2414 C10orf25 0 genome.wustl.edu 37 10 45496132 45496132 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 45496132 45496132 T C SNP C10orf25 ENST00000298298 human ensembl 74_37 -1 known missense c.176 p.Y59C 0.000 NULL NULL - no_errors C10orf25 HGNC ENSG00000165511 30 0 0 17 2 10.5263 FAM21C 0 genome.wustl.edu 37 10 46248063 46248063 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 46248063 46248063 C A SNP FAM21C ENST00000374362 human ensembl 74_37 +1 known missense c.1031 p.P344H 1.000 NULL NULL - no_errors FAM21C HGNC ENSG00000172661 178 0 0 158 24 13.1868 RBP3 0 genome.wustl.edu 37 10 48388083 48388083 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 48388083 48388083 G A SNP RBP3 ENST00000224600 human ensembl 74_37 -1 known missense c.2795 p.A932V 0.289 NULL pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd - no_errors RBP3 HGNC ENSG00000107618 45 0 0 47 11 18.9655 RBP3 0 genome.wustl.edu 37 10 48389980 48389980 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 48389980 48389980 C T SNP RBP3 ENST00000224600 human ensembl 74_37 -1 known missense c.898 p.G300R 1.000 pfam_Interphotoreceptor_retinol-bd,smart_Interphotoreceptor_retinol-bd pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd - no_errors RBP3 HGNC ENSG00000107618 14 0 0 11 10 47.619 OGDHL 0 genome.wustl.edu 37 10 50945994 50945994 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 50945994 50945994 G A SNP OGDHL ENST00000374103 human ensembl 74_37 -1 known missense c.2516 p.P839L 1.000 pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDHL HGNC ENSG00000197444 236 0 0 153 35 18.617 AGAP7 0 genome.wustl.edu 37 10 51465266 51465266 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 51465266 51465266 G A SNP AGAP7 ENST00000374095 human ensembl 74_37 -1 known missense c.1190 p.T397M 0.998 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP7 HGNC ENSG00000204169 91 0 0 95 19 16.6667 TUBAL3 0 genome.wustl.edu 37 10 5443015 5443015 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 5443015 5443015 G A SNP TUBAL3 ENST00000380419 human ensembl 74_37 -1 known silent c.39 p.G13 0.764 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,prints_Tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBAL3 HGNC ENSG00000178462 78 0 0 86 5 5.49451 SIRT1 0 genome.wustl.edu 37 10 69647248 69647248 + Silent SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 69647248 69647248 C A SNP SIRT1 ENST00000212015 human ensembl 74_37 +1 known silent c.504 p.A168 0.980 NULL pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT1 HGNC ENSG00000096717 43 0 0 57 11 16.1765 HERC4 0 genome.wustl.edu 37 10 69692445 69692445 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 69692445 69692445 C T SNP HERC4 ENST00000395198 human ensembl 74_37 -1 known missense c.2771 p.C924Y 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC4 HGNC ENSG00000148634 101 0 0 96 13 11.9266 STOX1 0 genome.wustl.edu 37 10 70645650 70645650 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 70645650 70645650 G A SNP STOX1 ENST00000298596 human ensembl 74_37 +1 known missense c.2098 p.V700I 0.020 NULL pfam_Storkhead-box_winged-helix - no_errors STOX1 HGNC ENSG00000165730 99 0 0 85 25 22.7273 CDH23 0 genome.wustl.edu 37 10 73405682 73405682 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 73405682 73405682 G A SNP CDH23 ENST00000461841 human ensembl 74_37 +1 known missense c.1370 p.R457H 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 64 0 0 50 15 23.0769 DLG5 0 genome.wustl.edu 37 10 79576336 79576336 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 79576336 79576336 G A SNP DLG5 ENST00000372391 human ensembl 74_37 -1 known missense c.3998 p.A1333V 0.035 superfamily_PDZ pfam_PDZ,pfam_DUF622,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like_dom,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG5 HGNC ENSG00000151208 127 0 0 99 12 10.8108 NRG3 0 genome.wustl.edu 37 10 83635280 83635280 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 83635280 83635280 C T SNP NRG3 ENST00000404547 human ensembl 74_37 +1 known missense c.184 p.R62W 1.000 NULL pfscan_EG-like_dom - no_errors NRG3 HGNC ENSG00000185737 35 0 0 13 3 18.75 GRID1 0 genome.wustl.edu 37 10 87484278 87484278 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 87484278 87484278 G A SNP GRID1 ENST00000327946 human ensembl 74_37 -1 known silent c.1689 p.F563 0.663 pfam_SBP_bac_3,smart_Iontro_glu_rcpt 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 73 0 0 60 17 22.0779 MMRN2 0 genome.wustl.edu 37 10 88705369 88705369 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 88705369 88705369 G A SNP MMRN2 ENST00000372027 human ensembl 74_37 -1 known missense c.242 p.S81L 0.998 pfam_EMI_domain,pfscan_EMI_domain pfam_C1q,pfam_EMI_domain,superfamily_Tumour_necrosis_fac-like_dom,superfamily_tRNA-bd_arm,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors MMRN2 HGNC ENSG00000173269 23 0 0 14 4 22.2222 NUTM2A 0 genome.wustl.edu 37 10 88985930 88985930 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 88985930 88985930 G A SNP NUTM2A ENST00000381707 human ensembl 74_37 +1 known missense c.343 p.V115M 0.001 NULL NULL - no_errors NUTM2A HGNC ENSG00000184923 56 0 0 39 19 32.7586 LIPF 0 genome.wustl.edu 37 10 90428385 90428385 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 90428385 90428385 G A SNP LIPF ENST00000394375 human ensembl 74_37 +1 known silent c.324 p.P108 0.994 NULL pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1 - no_errors LIPF HGNC ENSG00000182333 61 0 0 44 10 18.5185 BTAF1 0 genome.wustl.edu 37 10 93784688 93784688 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 93784688 93784688 G A SNP BTAF1 ENST00000265990 human ensembl 74_37 +1 known missense c.5039 p.S1680N 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors BTAF1 HGNC ENSG00000095564 123 0 0 131 28 17.6101 CYP26A1 0 genome.wustl.edu 37 10 94834191 94834191 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 94834191 94834191 C T SNP CYP26A1 ENST00000224356 human ensembl 74_37 +1 known missense c.316 p.R106W 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP26A1 HGNC ENSG00000095596 265 0 0 216 66 23.4043 SLIT1 0 genome.wustl.edu 37 10 98803215 98803215 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 98803215 98803215 G A SNP SLIT1 ENST00000266058 human ensembl 74_37 -1 known missense c.1909 p.R637C 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_EG-like_dom,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT1 HGNC ENSG00000187122 62 0 0 59 14 19.1781 RRP12 0 genome.wustl.edu 37 10 99130743 99130743 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 99130743 99130743 G A SNP RRP12 ENST00000370992 human ensembl 74_37 -1 known silent c.2439 p.H813 1.000 superfamily_ARM-type_fold pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold - no_errors RRP12 HGNC ENSG00000052749 23 0 0 25 5 16.6667 BIRC3 0 genome.wustl.edu 37 11 102195592 102195592 + Missense_Mutation SNP A A T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 102195592 102195592 A T SNP BIRC3 ENST00000263464 human ensembl 74_37 +1 known missense c.352 p.T118S 0.000 NULL pfam_BIR,pfam_CARD,superfamily_DEATH-like_dom,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC3 HGNC ENSG00000023445 170 0 0 165 37 18.3168 CTR9 0 genome.wustl.edu 37 11 10800334 10800334 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 10800334 10800334 C T SNP CTR9 ENST00000361367 human ensembl 74_37 +1 known silent c.3204 p.S1068 0.955 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CTR9 HGNC ENSG00000198730 29 0 0 23 9 28.125 ZC3H12C 0 genome.wustl.edu 37 11 110030104 110030104 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 110030104 110030104 C T SNP ZC3H12C ENST00000278590 human ensembl 74_37 +1 known missense c.1037 p.S346L 1.000 pfam_RNase_Zc3h12 pfam_RNase_Zc3h12 - no_errors ZC3H12C HGNC ENSG00000149289 26 0 0 24 5 17.2414 MUC2 0 genome.wustl.edu 37 11 1101020 1101020 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 1101020 1101020 C T SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known silent c.7419 p.C2473 0.998 superfamily_Prot_inh_PMP,smart_VWF_C,pfscan_VWF_C 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 30 0 0 17 6 26.087 PPP2R1B 0 genome.wustl.edu 37 11 111631752 111631752 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 111631752 111631752 A G SNP PPP2R1B ENST00000534500 human ensembl 74_37 -1 known missense c.229 p.C77R 0.235 NULL superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP2R1B HGNC ENSG00000137713 18 0 0 27 6 18.1818 TTC12 0 genome.wustl.edu 37 11 113215077 113215077 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 113215077 113215077 C T SNP TTC12 ENST00000314756 human ensembl 74_37 +1 known missense c.1069 p.R357W 0.333 superfamily_ARM-type_fold pfam_TPR_1,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC12 HGNC ENSG00000149292 136 0 0 100 30 23.0769 ZW10 0 genome.wustl.edu 37 11 113610003 113610003 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 113610003 113610003 C T SNP ZW10 ENST00000200135 human ensembl 74_37 -1 known missense c.1685 p.R562H 0.997 pfam_RZZ-complex_Zw10 pfam_RZZ-complex_Zw10 - no_errors ZW10 HGNC ENSG00000086827 114 0 0 80 20 20 ZBTB16 0 genome.wustl.edu 37 11 113934110 113934110 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 113934110 113934110 G A SNP ZBTB16 ENST00000335953 human ensembl 74_37 +1 known missense c.88 p.A30T 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold 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 ZBTB16 HGNC ENSG00000109906 51 0 0 51 13 20.3125 ZBTB16 0 genome.wustl.edu 37 11 114113008 114113008 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 114113008 114113008 C T SNP ZBTB16 ENST00000335953 human ensembl 74_37 +1 known missense c.1573 p.R525C 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB16 HGNC ENSG00000109906 38 0 0 30 10 25 SIDT2 0 genome.wustl.edu 37 11 117063305 117063305 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 117063305 117063305 G A SNP SIDT2 ENST00000278951 human ensembl 74_37 +1 known missense c.2060 p.R687H 1.000 NULL NULL - no_errors SIDT2 HGNC ENSG00000149577 79 0 0 79 22 21.7822 DSCAML1 0 genome.wustl.edu 37 11 117303115 117303115 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 117303115 117303115 T C SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known missense c.5312 p.Q1771R 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 DSCAML1 HGNC ENSG00000177103 33 0 0 33 5 13.1579 DSCAML1 0 genome.wustl.edu 37 11 117403212 117403212 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 117403212 117403212 G A SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known silent c.717 p.H239 0.752 smart_Ig_sub,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 72 0 0 63 13 17.1053 UBE4A 0 genome.wustl.edu 37 11 118263589 118263589 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 118263589 118263589 C T SNP UBE4A ENST00000431736 human ensembl 74_37 +1 known missense c.3074 p.T1025I 1.000 pfam_Ubox_domain,smart_Ubox_domain pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4A HGNC ENSG00000110344 110 0 0 87 24 21.6216 KMT2A 0 genome.wustl.edu 37 11 118361992 118361992 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 118361992 118361992 G A SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known missense c.4778 p.R1593H 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pirsf_MeTrfase_trithorax,pfscan_Znf_PHD-finger 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 132 0 0 121 14 10.3704 TTC36 0 genome.wustl.edu 37 11 118398293 118398293 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 118398293 118398293 C T SNP TTC36 ENST00000302783 human ensembl 74_37 +1 known silent c.84 p.L28 0.181 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC36 HGNC ENSG00000172425 221 0 0 204 41 16.7347 DDX6 0 genome.wustl.edu 37 11 118625487 118625487 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 118625487 118625487 G A SNP DDX6 ENST00000264018 human ensembl 74_37 -1 known silent c.1386 p.S462 1.000 pfscan_Helicase_C 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 DDX6 HGNC ENSG00000110367 96 0 0 82 12 12.766 HMBS 0 genome.wustl.edu 37 11 118963986 118963986 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 118963986 118963986 C T SNP HMBS ENST00000278715 human ensembl 74_37 +1 known missense c.1079 p.A360V 1.000 superfamily_Porphobilinogen_deaminase_C pfam_Porphobilin_deaminase_N,pfam_Porphobilinogen_deaminase_C,superfamily_Porphobilinogen_deaminase_C,pirsf_4pyrrol_synth_OHMeBilane_synth,prints_4pyrrol_synth_OHMeBilane_synth,tigrfam_4pyrrol_synth_OHMeBilane_synth - no_errors HMBS HGNC ENSG00000256269 23 0 0 22 6 21.4286 DPAGT1 0 genome.wustl.edu 37 11 118967888 118967888 + Silent SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 118967888 118967888 A G SNP DPAGT1 ENST00000354202 human ensembl 74_37 -1 known silent c.1125 p.H375 1.000 NULL pfam_Glycosyl_transferase_4 - no_errors DPAGT1 HGNC ENSG00000172269 154 0 0 154 38 19.7917 NLRX1 0 genome.wustl.edu 37 11 119052858 119052858 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 119052858 119052858 G A SNP NLRX1 ENST00000292199 human ensembl 74_37 +1 known missense c.2410 p.A804T 0.991 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 111 0 0 104 29 21.8045 TECTA 0 genome.wustl.edu 37 11 121023678 121023678 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 121023678 121023678 C T SNP TECTA ENST00000264037 human ensembl 74_37 +1 known silent c.4194 p.C1398 1.000 pfam_TIL_dom,superfamily_TIL_dom,smart_EG-like_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 57 0 0 61 16 20.7792 MICALCL 0 genome.wustl.edu 37 11 12316004 12316004 + Silent SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 12316004 12316004 C A SNP MICALCL ENST00000256186 human ensembl 74_37 +1 known silent c.1026 p.A342 0.000 NULL pfam_DUF3585,smart_ProQ/FinO - no_errors MICALCL HGNC ENSG00000133808 95 0 0 86 20 18.8679 TMEM218 0 genome.wustl.edu 37 11 124971177 124971177 + Missense_Mutation SNP A A C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 124971177 124971177 A C SNP TMEM218 ENST00000455225 human ensembl 74_37 -1 known missense c.133 p.F45V 0.999 NULL NULL - no_errors TMEM218 HGNC ENSG00000150433 32 0 0 35 7 16.6667 SRPR 0 genome.wustl.edu 37 11 126137546 126137546 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 126137546 126137546 C T SNP SRPR ENST00000332118 human ensembl 74_37 -1 known missense c.263 p.R88Q 1.000 pfam_Sig_recog_particle_rcpt_asu_N,superfamily_Longin-like_dom pfam_Sig_recog_particle_rcpt_asu_N,pfam_SRP54_GTPase_dom,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom - no_errors SRPR HGNC ENSG00000182934 50 0 0 59 10 14.4928 MUC5B 0 genome.wustl.edu 37 11 1272662 1272662 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 1272662 1272662 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.14561 p.P4854L 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 126 0 0 116 12 9.375 MUC5B 0 genome.wustl.edu 37 11 1276035 1276035 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 1276035 1276035 G A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.15598 p.V5200I 0.002 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 42 0 0 34 8 19.0476 KCNJ5 0 genome.wustl.edu 37 11 128781757 128781757 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 128781757 128781757 G A SNP KCNJ5 ENST00000529694 human ensembl 74_37 +1 known missense c.589 p.A197T 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.4 - no_errors KCNJ5 HGNC ENSG00000120457 85 0 0 118 11 8.52713 OR7E14P 0 genome.wustl.edu 37 11 17073746 17073746 + RNA SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 17073746 17073746 G A SNP OR7E14P ENST00000530490 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors OR7E14P HGNC ENSG00000184669 82 0 0 75 13 14.7727 ABCC8 0 genome.wustl.edu 37 11 17482097 17482097 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 17482097 17482097 G A SNP ABCC8 ENST00000302539 human ensembl 74_37 -1 known missense c.949 p.P317S 1.000 superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC8 HGNC ENSG00000006071 104 0 0 100 17 14.5299 IGSF22 0 genome.wustl.edu 37 11 18741301 18741301 + Silent SNP T T G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 18741301 18741301 T G SNP IGSF22 ENST00000513874 human ensembl 74_37 -1 known silent c.658 p.R220 0.999 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF22 HGNC ENSG00000179057 114 0 0 79 20 20.202 PTPN5 0 genome.wustl.edu 37 11 18764950 18764950 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 18764950 18764950 G A SNP PTPN5 ENST00000358540 human ensembl 74_37 -1 known silent c.318 p.S106 0.997 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 84 0 0 53 8 13.1148 NELL1 0 genome.wustl.edu 37 11 21581797 21581797 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 21581797 21581797 G A SNP NELL1 ENST00000357134 human ensembl 74_37 +1 known missense c.1849 p.A617T 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL1 HGNC ENSG00000165973 128 0 0 130 15 10.3448 SLC17A6 0 genome.wustl.edu 37 11 22363180 22363180 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 22363180 22363180 T C SNP SLC17A6 ENST00000263160 human ensembl 74_37 +1 known missense c.193 p.F65L 1.000 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A6 HGNC ENSG00000091664 18 0 0 23 5 17.8571 PSMD13 0 genome.wustl.edu 37 11 239045 239045 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 239045 239045 C T SNP PSMD13 ENST00000532097 human ensembl 74_37 +1 known missense c.143 p.P48L 1.000 NULL pfam_PCI_dom,smart_PCI_dom - no_errors PSMD13 HGNC ENSG00000185627 171 0 0 124 32 20.5128 MUC15 0 genome.wustl.edu 37 11 26587350 26587350 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 26587350 26587350 G A SNP MUC15 ENST00000436318 human ensembl 74_37 -1 known missense c.137 p.S46L 0.001 NULL NULL - no_errors MUC15 HGNC ENSG00000169550 55 0 0 48 14 22.5806 ANO3 0 genome.wustl.edu 37 11 26681924 26681924 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 26681924 26681924 C T SNP ANO3 ENST00000256737 human ensembl 74_37 +1 known missense c.2879 p.A960V 1.000 NULL pfam_Anoctamin - no_errors ANO3 HGNC ENSG00000134343 95 0 0 85 20 19.0476 LIN7C 0 genome.wustl.edu 37 11 27520240 27520240 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 27520240 27520240 G A SNP LIN7C ENST00000278193 human ensembl 74_37 -1 known missense c.550 p.R184C 0.997 superfamily_PDZ,pirsf_Lin-7_homologue pfam_PDZ,pfam_L27_C,superfamily_PDZ,smart_L27,smart_PDZ,pirsf_Lin-7_homologue,pfscan_L27,pfscan_PDZ - no_errors LIN7C HGNC ENSG00000148943 120 0 0 121 25 17.1233 QSER1 0 genome.wustl.edu 37 11 32955470 32955470 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 32955470 32955470 C T SNP QSER1 ENST00000399302 human ensembl 74_37 +1 known missense c.2279 p.P760L 1.000 NULL NULL - no_errors QSER1 HGNC ENSG00000060749 150 0 0 131 23 14.9351 PGAP2 0 genome.wustl.edu 37 11 3832493 3832493 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 3832493 3832493 T C SNP PGAP2 ENST00000278243 human ensembl 74_37 +1 known missense c.4 p.Y2H 1.000 NULL pfam_Frag1/DRAM/Sfk1 - no_errors PGAP2 HGNC ENSG00000148985 73 0 0 68 9 11.6883 RHOG 0 genome.wustl.edu 37 11 3848830 3848830 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 3848830 3848830 G A SNP RHOG ENST00000351018 human ensembl 74_37 -1 known missense c.539 p.T180M 0.101 superfamily_P-loop_NTPase,smart_Ran_GTPase 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,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOG HGNC ENSG00000177105 41 0 0 34 9 20.9302 TP53I11 0 genome.wustl.edu 37 11 44956502 44956502 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 44956502 44956502 C T SNP TP53I11 ENST00000308212 human ensembl 74_37 -1 known missense c.503 p.R168H 1.000 NULL NULL - no_errors TP53I11 HGNC ENSG00000175274 104 0 0 101 17 14.4068 CHST1 0 genome.wustl.edu 37 11 45671602 45671602 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 45671602 45671602 G A SNP CHST1 ENST00000308064 human ensembl 74_37 -1 known missense c.872 p.P291L 0.016 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST1 HGNC ENSG00000175264 91 0 0 69 20 22.4719 ARFGAP2 0 genome.wustl.edu 37 11 47188427 47188427 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 47188427 47188427 G A SNP ARFGAP2 ENST00000524782 human ensembl 74_37 -1 known missense c.1216 p.R406W 1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP2 HGNC ENSG00000149182 137 1 0.724638 158 21 11.7318 NR1H3 0 genome.wustl.edu 37 11 47282097 47282097 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 47282097 47282097 C T SNP NR1H3 ENST00000441012 human ensembl 74_37 +1 known missense c.370 p.R124C 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Ecdystd_rcpt - no_errors NR1H3 HGNC ENSG00000025434 37 0 0 31 5 13.8889 PTPRJ 0 genome.wustl.edu 37 11 48145177 48145177 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 48145177 48145177 T C SNP PTPRJ ENST00000418331 human ensembl 74_37 +1 known missense c.629 p.V210A 0.020 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRJ HGNC ENSG00000149177 32 0 0 29 9 23.6842 OR4B1 0 genome.wustl.edu 37 11 48238920 48238920 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 48238920 48238920 T C SNP OR4B1 ENST00000309562 human ensembl 74_37 +1 known missense c.559 p.C187R 0.998 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 OR4B1 HGNC ENSG00000175619 133 0 0 132 17 11.4094 OR52R1 0 genome.wustl.edu 37 11 4825181 4825181 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 4825181 4825181 C T SNP OR52R1 ENST00000380382 human ensembl 74_37 -1 known missense c.667 p.V223M 0.004 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52R1 HGNC ENSG00000176937 82 0 0 68 17 20 OR51G1 0 genome.wustl.edu 37 11 4944754 4944754 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 4944754 4944754 G A SNP OR51G1 ENST00000321961 human ensembl 74_37 -1 known silent c.816 p.R272 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51G1 HGNC ENSG00000176879 115 0 0 92 18 16.3636 OR4C13 0 genome.wustl.edu 37 11 49974622 49974622 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 49974622 49974622 C T SNP OR4C13 ENST00000555099 human ensembl 74_37 +1 known silent c.648 p.C216 0.972 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C13 HGNC ENSG00000258817 85 0 0 98 12 10.9091 OR51B5 0 genome.wustl.edu 37 11 5364477 5364477 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 5364477 5364477 G A SNP OR51B5 ENST00000300773 human ensembl 74_37 -1 known missense c.278 p.A93V 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51B5 HGNC ENSG00000242180 43 0 0 35 6 14.6341 TRIM48 0 genome.wustl.edu 37 11 55035844 55035844 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 55035844 55035844 T C SNP TRIM48 ENST00000417545 human ensembl 74_37 +1 known missense c.574 p.Y192H 0.183 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM48 HGNC ENSG00000150244 72 0 0 62 11 15.0685 OR4C15 0 genome.wustl.edu 37 11 55322287 55322287 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 55322287 55322287 A G SNP OR4C15 ENST00000314644 human ensembl 74_37 +1 known missense c.505 p.T169A 0.190 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 OR4C15 HGNC ENSG00000181939 100 0 0 84 12 12.5 OR4C6 0 genome.wustl.edu 37 11 55433482 55433482 + Silent SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 55433482 55433482 A G SNP OR4C6 ENST00000314259 human ensembl 74_37 +1 known silent c.840 p.L280 0.983 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C6 HGNC ENSG00000181903 51 0 0 48 12 20 OR5T3 0 genome.wustl.edu 37 11 56020522 56020522 + Nonsense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 56020522 56020522 G T SNP OR5T3 ENST00000303059 human ensembl 74_37 +1 known nonsense c.847 p.G283* 0.085 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T3 HGNC ENSG00000172489 124 0 0 95 25 20.8333 RASSF7 0 genome.wustl.edu 37 11 561891 561891 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 561891 561891 A G SNP RASSF7 ENST00000344375 human ensembl 74_37 +1 known missense c.123 p.I41M 0.992 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc - no_errors RASSF7 HGNC ENSG00000099849 46 0 0 39 4 9.30233 OR5M3 0 genome.wustl.edu 37 11 56237921 56237921 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 56237921 56237921 C T SNP OR5M3 ENST00000312240 human ensembl 74_37 -1 known missense c.53 p.R18H 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M3 HGNC ENSG00000174937 56 0 0 65 11 14.4737 FAM111B 0 genome.wustl.edu 37 11 58891822 58891822 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 58891822 58891822 G A SNP FAM111B ENST00000343597 human ensembl 74_37 +1 known silent c.252 p.T84 0.012 NULL superfamily_Trypsin-like_Pept_dom - no_errors FAM111B HGNC ENSG00000189057 86 0 0 96 10 9.43396 OR10V1 0 genome.wustl.edu 37 11 59481128 59481128 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 59481128 59481128 G A SNP OR10V1 ENST00000307552 human ensembl 74_37 -1 known missense c.191 p.A64V 0.723 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 OR10V1 HGNC ENSG00000172289 29 0 0 23 5 17.8571 ZP1 0 genome.wustl.edu 37 11 60637116 60637116 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 60637116 60637116 G A SNP ZP1 ENST00000278853 human ensembl 74_37 +1 known missense c.425 p.R142Q 0.009 NULL pfam_ZP_dom,superfamily_P_trefoil,smart_P_trefoil,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP1 HGNC ENSG00000149506 85 0 0 63 11 14.8649 TMEM132A 0 genome.wustl.edu 37 11 60703936 60703936 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 60703936 60703936 C T SNP TMEM132A ENST00000005286 human ensembl 74_37 +1 known missense c.2632 p.R878C 1.000 NULL NULL - no_errors TMEM132A HGNC ENSG00000006118 91 0 0 110 34 23.6111 DDB1 0 genome.wustl.edu 37 11 61071387 61071387 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 61071387 61071387 G A SNP DDB1 ENST00000301764 human ensembl 74_37 -1 known missense c.2782 p.R928C 1.000 pfam_Cleavage/polyA-sp_fac_asu_C pfam_Cleavage/polyA-sp_fac_asu_C - no_errors DDB1 HGNC ENSG00000167986 74 0 0 84 13 13.4021 SYT7 0 genome.wustl.edu 37 11 61323636 61323636 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 61323636 61323636 G A SNP SYT7 ENST00000263846 human ensembl 74_37 -1 known silent c.75 p.T25 0.991 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT7 HGNC ENSG00000011347 30 0 0 24 6 20 NRXN2 0 genome.wustl.edu 37 11 64390423 64390423 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 64390423 64390423 G A SNP NRXN2 ENST00000265459 human ensembl 74_37 -1 known silent c.3975 p.A1325 0.998 pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 17 0 0 22 4 15.3846 SF1 0 genome.wustl.edu 37 11 64534506 64534506 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 64534506 64534506 G A SNP SF1 ENST00000377390 human ensembl 74_37 -1 known missense c.1448 p.P483L 1.000 NULL pfam_KH_dom_type_1,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_KH_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_KH_dom_type_1 - no_errors SF1 HGNC ENSG00000168066 64 0 0 53 16 23.1884 BATF2 0 genome.wustl.edu 37 11 64757191 64757191 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 64757191 64757191 C T SNP BATF2 ENST00000301887 human ensembl 74_37 -1 known missense c.235 p.V79M 0.000 smart_bZIP pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors BATF2 HGNC ENSG00000168062 43 0 0 41 5 10.8696 SAC3D1 0 genome.wustl.edu 37 11 64812170 64812170 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 64812170 64812170 G T SNP SAC3D1 ENST00000398846 human ensembl 74_37 +1 known missense c.1048 p.G350C 0.047 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors SAC3D1 HGNC ENSG00000168061 39 0 0 32 11 25.5814 LTBP3 0 genome.wustl.edu 37 11 65320450 65320450 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 65320450 65320450 A G SNP LTBP3 ENST00000301873 human ensembl 74_37 -1 known missense c.1067 p.I356T 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_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 57 0 0 33 7 17.5 SF3B2 0 genome.wustl.edu 37 11 65825861 65825861 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 65825861 65825861 C T SNP SF3B2 ENST00000322535 human ensembl 74_37 +1 known silent c.951 p.S317 0.000 NULL pfam_DUF382,pfam_PSP,pfam_SAP_dom,smart_SAP_dom,smart_PSP,pfscan_SAP_dom - no_errors SF3B2 HGNC ENSG00000087365 68 0 0 60 20 25 DNHD1 0 genome.wustl.edu 37 11 6593053 6593053 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 6593053 6593053 C T SNP DNHD1 ENST00000254579 human ensembl 74_37 +1 known missense c.14099 p.A4700V 0.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 49 0 0 52 3 5.45455 DPP3 0 genome.wustl.edu 37 11 66252663 66252663 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 66252663 66252663 C T SNP DPP3 ENST00000360510 human ensembl 74_37 +1 known missense c.290 p.A97V 1.000 pirsf_Dipeptidyl-peptase3 pirsf_Dipeptidyl-peptase3 - no_errors DPP3 HGNC ENSG00000254986 58 0 0 49 11 18.3333 SPTBN2 0 genome.wustl.edu 37 11 66453406 66453406 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 66453406 66453406 C T SNP SPTBN2 ENST00000309996 human ensembl 74_37 -1 known missense c.7109 p.R2370H 1.000 pirsf_Spectrin_bsu 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 63 0 0 49 10 16.9492 SSH3 0 genome.wustl.edu 37 11 67076821 67076821 + RNA SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 67076821 67076821 C A SNP SSH3 ENST00000531495 human ensembl 74_37 +1 putative rna NULL NULL 0.011 - - - no_errors SSH3 HGNC ENSG00000172830 28 0 0 58 7 10.7692 CARNS1 0 genome.wustl.edu 37 11 67191666 67191666 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 67191666 67191666 G A SNP CARNS1 ENST00000445895 human ensembl 74_37 +1 known missense c.2447 p.R816H 1.000 pfscan_ATP-grasp superfamily_PreATP-grasp_dom,superfamily_TIL_dom,pfscan_ATP-grasp - no_errors CARNS1 HGNC ENSG00000172508 58 0 0 40 7 14.8936 ALDH3B2 0 genome.wustl.edu 37 11 67430713 67430713 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 67430713 67430713 C A SNP ALDH3B2 ENST00000349015 human ensembl 74_37 -1 known missense c.1131 p.M377I 0.000 NULL pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH3B2 HGNC ENSG00000132746 103 0 0 91 33 26.6129 LRP5 0 genome.wustl.edu 37 11 68183850 68183850 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 68183850 68183850 C T SNP LRP5 ENST00000294304 human ensembl 74_37 +1 known missense c.2882 p.P961L 0.976 pirsf_Low_density_Lipo_rcpt-rel_p5/6 pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 97 0 0 93 29 23.7705 LRP5 0 genome.wustl.edu 37 11 68201246 68201246 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 68201246 68201246 C T SNP LRP5 ENST00000294304 human ensembl 74_37 +1 known missense c.3940 p.R1314C 0.025 pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 67 0 0 57 13 18.5714 CPT1A 0 genome.wustl.edu 37 11 68525199 68525199 + Splice_Site SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 68525199 68525199 C A SNP CPT1A ENST00000265641 human ensembl 74_37 -1 known splice_site c.2236-1 e18-1 1.000 - - - no_errors CPT1A HGNC ENSG00000110090 45 0 0 36 5 12.1951 MRPL21 0 genome.wustl.edu 37 11 68664114 68664114 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 68664114 68664114 T C SNP MRPL21 ENST00000362034 human ensembl 74_37 -1 known missense c.265 p.T89A 0.000 NULL tigrfam_Ribosomal_L21 - no_errors MRPL21 HGNC ENSG00000197345 131 0 0 153 12 7.27273 FGF3 0 genome.wustl.edu 37 11 69631101 69631101 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 69631101 69631101 C T SNP FGF3 ENST00000334134 human ensembl 74_37 -1 known missense c.311 p.R104Q 0.988 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF3 HGNC ENSG00000186895 90 0 0 85 12 12.3711 KRTAP5-10 0 genome.wustl.edu 37 11 71276692 71276692 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 71276692 71276692 G T SNP KRTAP5-10 ENST00000398531 human ensembl 74_37 +1 known missense c.59 p.G20V 1.000 NULL NULL - no_errors KRTAP5-10 HGNC ENSG00000204572 58 0 0 47 12 20.339 ARHGEF17 0 genome.wustl.edu 37 11 73022117 73022117 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 73022117 73022117 C T SNP ARHGEF17 ENST00000263674 human ensembl 74_37 +1 known missense c.2434 p.R812C 0.079 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF17 HGNC ENSG00000110237 73 0 0 63 6 8.69565 P4HA3 0 genome.wustl.edu 37 11 73990445 73990445 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 73990445 73990445 C T SNP P4HA3 ENST00000331597 human ensembl 74_37 -1 known missense c.1163 p.R388H 1.000 smart_Pro_4_hyd_alph pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors P4HA3 HGNC ENSG00000149380 112 0 0 102 22 17.7419 PGM2L1 0 genome.wustl.edu 37 11 74057834 74057834 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 74057834 74057834 A G SNP PGM2L1 ENST00000298198 human ensembl 74_37 -1 known missense c.980 p.V327A 0.858 pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III - no_errors PGM2L1 HGNC ENSG00000165434 186 0 0 176 32 15.3846 RNF169 0 genome.wustl.edu 37 11 74547506 74547506 + Nonsense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 74547506 74547506 C T SNP RNF169 ENST00000299563 human ensembl 74_37 +1 known nonsense c.1858 p.R620* 0.805 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF169 HGNC ENSG00000166439 52 0 0 44 16 26.6667 THRSP 0 genome.wustl.edu 37 11 77775270 77775270 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 77775270 77775270 C T SNP THRSP ENST00000281030 human ensembl 74_37 +1 known silent c.343 p.L115 0.999 pfam_Spot_14 pfam_Spot_14 - no_errors THRSP HGNC ENSG00000151365 37 0 0 32 5 13.5135 STK33 0 genome.wustl.edu 37 11 8478889 8478889 + Silent SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 8478889 8478889 A G SNP STK33 ENST00000315204 human ensembl 74_37 -1 known silent c.696 p.N232 0.725 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 STK33 HGNC ENSG00000130413 59 0 0 59 9 13.2353 CCDC83 0 genome.wustl.edu 37 11 85623745 85623745 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 85623745 85623745 T C SNP CCDC83 ENST00000280245 human ensembl 74_37 +1 known missense c.848 p.L283P 0.182 NULL NULL - no_errors CCDC83 HGNC ENSG00000150676 265 0 0 248 27 9.81818 NOX4 0 genome.wustl.edu 37 11 89075264 89075264 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 89075264 89075264 C A SNP NOX4 ENST00000413594 human ensembl 74_37 -1 known missense c.1378 p.A460S 1.000 pfam_Fe_red_NAD-bd_6,prints_Cyt_b245_heavy_chain pfam_Fe_red_NAD-bd_6,pfam_Fe3_Rdtase_TM_dom,pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX4 HGNC ENSG00000086991 72 0 0 63 15 19.2308 FAT3 0 genome.wustl.edu 37 11 92543168 92543168 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 92543168 92543168 A G SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.9407 p.Y3136C 0.999 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 64 0 0 59 11 15.7143 FAT3 0 genome.wustl.edu 37 11 92577840 92577840 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 92577840 92577840 G A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known silent c.11307 p.T3769 0.004 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 10 0 0 9 4 30.7692 FAT3 0 genome.wustl.edu 37 11 92590407 92590407 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 92590407 92590407 C A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.11393 p.P3798H 1.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 114 0 0 72 14 16.2791 SLC36A4 0 genome.wustl.edu 37 11 92914014 92914014 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 92914014 92914014 C T SNP SLC36A4 ENST00000326402 human ensembl 74_37 -1 known silent c.489 p.Q163 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC36A4 HGNC ENSG00000180773 39 0 0 38 14 26.9231 FUT4 0 genome.wustl.edu 37 11 94278034 94278034 + Silent SNP G G C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 94278034 94278034 G C SNP FUT4 ENST00000358752 human ensembl 74_37 +1 known silent c.735 p.G245 0.000 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT4 HGNC ENSG00000196371 20 0 0 13 5 27.7778 FAM76B 0 genome.wustl.edu 37 11 95516407 95516407 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 95516407 95516407 A G SNP FAM76B ENST00000358780 human ensembl 74_37 -1 known missense c.385 p.W129R 1.000 NULL NULL - no_errors FAM76B HGNC ENSG00000077458 25 0 0 37 5 11.9048 UHRF1BP1L 0 genome.wustl.edu 37 12 100453799 100453799 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 100453799 100453799 G A SNP UHRF1BP1L ENST00000279907 human ensembl 74_37 -1 known silent c.1572 p.S524 0.999 NULL NULL - no_errors UHRF1BP1L HGNC ENSG00000111647 33 0 0 23 5 17.8571 MYBPC1 0 genome.wustl.edu 37 12 102069194 102069194 + Silent SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 102069194 102069194 T C SNP MYBPC1 ENST00000361466 human ensembl 74_37 +1 known silent c.2934 p.A978 0.869 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC1 HGNC ENSG00000196091 62 0 0 52 14 21.2121 KLRAP1 0 genome.wustl.edu 37 12 10750656 10750656 + RNA SNP T T G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 10750656 10750656 T G SNP KLRAP1 ENST00000510134 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors KLRAP1 HGNC ENSG00000256667 163 0 0 166 42 20.1923 STYK1 0 genome.wustl.edu 37 12 10777340 10777340 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 10777340 10777340 C T SNP STYK1 ENST00000075503 human ensembl 74_37 -1 known missense c.836 p.R279Q 0.013 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,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 STYK1 HGNC ENSG00000060140 187 0 0 162 29 15.1832 CMKLR1 0 genome.wustl.edu 37 12 108686284 108686284 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 108686284 108686284 G A SNP CMKLR1 ENST00000312143 human ensembl 74_37 -1 known silent c.456 p.S152 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt,prints_Anphylx_rcpt,prints_ATII_rcpt - no_errors CMKLR1 HGNC ENSG00000174600 57 0 0 44 15 25.4237 USP30 0 genome.wustl.edu 37 12 109509448 109509448 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 109509448 109509448 C T SNP USP30 ENST00000257548 human ensembl 74_37 +1 known missense c.512 p.S171L 0.997 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP30 HGNC ENSG00000135093 79 0 0 85 17 16.6667 MMAB 0 genome.wustl.edu 37 12 110006573 110006573 + Splice_Site SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 110006573 110006573 A G SNP MMAB ENST00000545712 human ensembl 74_37 -1 known splice_site c.290+2 e3+2 1.000 - - - no_errors MMAB HGNC ENSG00000139428 54 0 0 44 16 26.6667 RPH3A 0 genome.wustl.edu 37 12 113314521 113314521 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 113314521 113314521 G T SNP RPH3A ENST00000389385 human ensembl 74_37 +1 known missense c.1021 p.A341S 0.000 NULL pfam_C2_dom,pfam_Znf_FYVE-typ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom - no_errors RPH3A HGNC ENSG00000089169 39 0 0 39 4 9.30233 LHX5 0 genome.wustl.edu 37 12 113906026 113906026 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 113906026 113906026 G A SNP LHX5 ENST00000261731 human ensembl 74_37 -1 known missense c.581 p.T194M 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 26 0 0 23 6 20.6897 LHX5 0 genome.wustl.edu 37 12 113909232 113909232 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 113909232 113909232 C T SNP LHX5 ENST00000261731 human ensembl 74_37 -1 known silent c.72 p.A24 1.000 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 LHX5 HGNC ENSG00000089116 17 0 0 13 4 23.5294 TBX5 0 genome.wustl.edu 37 12 114793771 114793771 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 114793771 114793771 G A SNP TBX5 ENST00000310346 human ensembl 74_37 -1 known missense c.1123 p.R375W 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 TBX5 HGNC ENSG00000089225 73 0 0 82 12 12.766 RNFT2 0 genome.wustl.edu 37 12 117217143 117217143 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 117217143 117217143 T C SNP RNFT2 ENST00000257575 human ensembl 74_37 +1 known missense c.872 p.V291A 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNFT2 HGNC ENSG00000135119 47 0 0 45 3 6.25 KSR2 0 genome.wustl.edu 37 12 117962692 117962692 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 117962692 117962692 G A SNP KSR2 ENST00000339824 human ensembl 74_37 -1 known silent c.2184 p.A728 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,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors KSR2 HGNC ENSG00000171435 43 0 0 44 11 20 CIT 0 genome.wustl.edu 37 12 120156088 120156088 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 120156088 120156088 G A SNP CIT ENST00000261833 human ensembl 74_37 -1 known missense c.4004 p.P1335L 1.000 pirsf_Citron_Rho-interacting_kinase pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CIT HGNC ENSG00000122966 43 0 0 29 5 14.7059 GCN1L1 0 genome.wustl.edu 37 12 120584908 120584908 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 120584908 120584908 C T SNP GCN1L1 ENST00000300648 human ensembl 74_37 -1 known missense c.4895 p.R1632Q 1.000 superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 36 0 0 25 5 16.6667 WDR66 0 genome.wustl.edu 37 12 122361622 122361622 + Missense_Mutation SNP T T G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 122361622 122361622 T G SNP WDR66 ENST00000288912 human ensembl 74_37 +1 known missense c.473 p.F158C 0.001 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR66 HGNC ENSG00000158023 58 0 0 70 14 16.6667 LRRC43 0 genome.wustl.edu 37 12 122667814 122667814 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 122667814 122667814 C T SNP LRRC43 ENST00000339777 human ensembl 74_37 +1 known silent c.123 p.R41 0.820 NULL NULL - no_errors LRRC43 HGNC ENSG00000158113 17 0 0 12 10 45.4545 LRRC43 0 genome.wustl.edu 37 12 122676097 122676097 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 122676097 122676097 G A SNP LRRC43 ENST00000339777 human ensembl 74_37 +1 known missense c.1072 p.A358T 0.000 NULL NULL - no_errors LRRC43 HGNC ENSG00000158113 75 0 0 74 14 15.9091 SBNO1 0 genome.wustl.edu 37 12 123829930 123829930 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 123829930 123829930 G A SNP SBNO1 ENST00000420886 human ensembl 74_37 -1 known missense c.425 p.A142V 1.000 NULL pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Prismane-like - no_errors SBNO1 HGNC ENSG00000139697 93 0 0 102 15 12.8205 DNAH10 0 genome.wustl.edu 37 12 124387565 124387565 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 124387565 124387565 C T SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known silent c.9366 p.A3122 0.000 NULL 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 13 0 0 6 4 40 SLC15A4 0 genome.wustl.edu 37 12 129299599 129299599 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 129299599 129299599 G A SNP SLC15A4 ENST00000266771 human ensembl 74_37 -1 known missense c.563 p.P188L 1.000 pfam_POT_fam,pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_POT_fam,pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC15A4 HGNC ENSG00000139370 133 0 0 95 13 12.037 FZD10 0 genome.wustl.edu 37 12 130647672 130647672 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 130647672 130647672 G A SNP FZD10 ENST00000229030 human ensembl 74_37 +1 known missense c.185 p.R62H 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD10 HGNC ENSG00000111432 46 0 0 43 11 20.3704 SFSWAP 0 genome.wustl.edu 37 12 132281836 132281836 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 132281836 132281836 C T SNP SFSWAP ENST00000261674 human ensembl 74_37 +1 known missense c.2648 p.A883V 0.009 NULL pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp - no_errors SFSWAP HGNC ENSG00000061936 23 0 0 35 9 20.4545 EP400 0 genome.wustl.edu 37 12 132547141 132547141 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 132547141 132547141 G A SNP EP400 ENST00000333577 human ensembl 74_37 +1 known silent c.8337 p.Q2779 0.737 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 44 0 0 30 3 9.09091 GRIN2B 0 genome.wustl.edu 37 12 13716608 13716608 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 13716608 13716608 G A SNP GRIN2B ENST00000609686 human ensembl 74_37 -1 known silent c.3564 p.G1188 0.960 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 139 0 0 117 26 18.1818 GRIN2B 0 genome.wustl.edu 37 12 13717418 13717418 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 13717418 13717418 C T SNP GRIN2B ENST00000609686 human ensembl 74_37 -1 known silent c.2754 p.P918 0.000 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 214 0 0 186 36 16.2162 ATF7IP 0 genome.wustl.edu 37 12 14577287 14577287 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 14577287 14577287 C T SNP ATF7IP ENST00000261168 human ensembl 74_37 +1 known silent c.438 p.S146 0.001 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ATF7IP HGNC ENSG00000171681 37 0 0 49 5 9.25926 GOLT1B 0 genome.wustl.edu 37 12 21665287 21665287 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 21665287 21665287 C T SNP GOLT1B ENST00000229314 human ensembl 74_37 +1 known silent c.355 p.L119 1.000 pfam_Vesicle_transpt_Got1/SFT2 pfam_Vesicle_transpt_Got1/SFT2 - no_errors GOLT1B HGNC ENSG00000111711 102 0 0 106 16 13.1148 GYS2 0 genome.wustl.edu 37 12 21721851 21721851 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 21721851 21721851 C T SNP GYS2 ENST00000261195 human ensembl 74_37 -1 known silent c.771 p.T257 0.030 pfam_Glycogen_synth pfam_Glycogen_synth,pfam_Glyco_trans_1 - no_errors GYS2 HGNC ENSG00000111713 97 0 0 96 18 15.7895 C2CD5 0 genome.wustl.edu 37 12 22677508 22677508 + Nonsense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 22677508 22677508 C A SNP C2CD5 ENST00000333957 human ensembl 74_37 -1 known nonsense c.499 p.E167* 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors C2CD5 HGNC ENSG00000111731 50 0 0 48 11 18.6441 TULP3 0 genome.wustl.edu 37 12 3018723 3018723 + Nonsense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 3018723 3018723 C T SNP TULP3 ENST00000448120 human ensembl 74_37 +1 known nonsense c.70 p.R24* 1.000 prints_Tubby_N pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C,prints_Tubby_N - no_errors TULP3 HGNC ENSG00000078246 89 0 0 89 24 21.2389 TEAD4 0 genome.wustl.edu 37 12 3129845 3129845 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 3129845 3129845 C T SNP TEAD4 ENST00000359864 human ensembl 74_37 +1 known missense c.629 p.P210L 0.518 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD4 HGNC ENSG00000197905 50 0 0 42 12 22.2222 PPHLN1 0 genome.wustl.edu 37 12 42745792 42745792 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 42745792 42745792 G A SNP PPHLN1 ENST00000395568 human ensembl 74_37 +1 known missense c.178 p.D60N 0.989 NULL NULL - no_errors PPHLN1 HGNC ENSG00000134283 49 0 0 49 9 15.5172 ARID2 0 genome.wustl.edu 37 12 46287412 46287412 + Splice_Site SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 46287412 46287412 G T SNP ARID2 ENST00000334344 human ensembl 74_37 +1 known splice_site c.5272-1 e20-1 1.000 - - - no_errors ARID2 HGNC ENSG00000189079 64 0 0 55 17 23.6111 NDUFA9 0 genome.wustl.edu 37 12 4758305 4758305 + Missense_Mutation SNP G G C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 4758305 4758305 G C SNP NDUFA9 ENST00000266544 human ensembl 74_37 +1 known missense c.13 p.A5P 0.060 NULL pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_NmrA - no_errors NDUFA9 HGNC ENSG00000139180 8 0 0 1 4 80 ENDOU 0 genome.wustl.edu 37 12 48110149 48110149 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 48110149 48110149 C T SNP ENDOU ENST00000229003 human ensembl 74_37 -1 known missense c.562 p.A188T 0.000 pfam_Endoribonuclease_XendoU pfam_Endoribonuclease_XendoU,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENDOU HGNC ENSG00000111405 55 0 0 49 10 16.9492 COL2A1 0 genome.wustl.edu 37 12 48376306 48376306 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 48376306 48376306 G A SNP COL2A1 ENST00000380518 human ensembl 74_37 -1 known silent c.2280 p.I760 0.390 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL2A1 HGNC ENSG00000139219 22 0 0 21 6 22.2222 CCNT1 0 genome.wustl.edu 37 12 49087737 49087737 + Silent SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 49087737 49087737 A G SNP CCNT1 ENST00000261900 human ensembl 74_37 -1 known silent c.1260 p.Y420 1.000 NULL pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNT1 HGNC ENSG00000129315 111 0 0 133 24 15.2866 WNT1 0 genome.wustl.edu 37 12 49373465 49373465 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 49373465 49373465 G A SNP WNT1 ENST00000293549 human ensembl 74_37 +1 known missense c.319 p.A107T 0.858 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt1 - no_errors WNT1 HGNC ENSG00000125084 21 0 0 19 3 13.6364 KMT2D 0 genome.wustl.edu 37 12 49436573 49436573 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 49436573 49436573 G A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known silent c.5733 p.T1911 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 81 0 0 64 16 20 PRPH 0 genome.wustl.edu 37 12 49691820 49691820 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 49691820 49691820 G T SNP PRPH ENST00000257860 human ensembl 74_37 +1 known missense c.1347 p.E449D 1.000 NULL pfam_IF,pfam_Intermed_filament_DNA-bd,prints_Keratin_I - no_errors PRPH HGNC ENSG00000135406 23 0 0 34 9 20.9302 C1QL4 0 genome.wustl.edu 37 12 49729900 49729900 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 49729900 49729900 C T SNP C1QL4 ENST00000334221 human ensembl 74_37 -1 known missense c.361 p.E121K 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QL4 HGNC ENSG00000186897 19 0 0 20 3 13.0435 AQP5 0 genome.wustl.edu 37 12 50355937 50355937 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 50355937 50355937 C T SNP AQP5 ENST00000293599 human ensembl 74_37 +1 known missense c.137 p.A46V 0.233 pfam_MIP,superfamily_Aquaporin-like,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_5,tigrfam_MIP - no_errors AQP5 HGNC ENSG00000161798 20 0 0 30 4 11.7647 RACGAP1 0 genome.wustl.edu 37 12 50390908 50390908 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 50390908 50390908 C T SNP RACGAP1 ENST00000312377 human ensembl 74_37 -1 known missense c.959 p.R320H 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,superfamily_Regulat_G_prot_signal_superfam,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors RACGAP1 HGNC ENSG00000161800 92 0 0 77 17 18.0851 KCNA5 0 genome.wustl.edu 37 12 5153795 5153795 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 5153795 5153795 A G SNP KCNA5 ENST00000252321 human ensembl 74_37 +1 known missense c.482 p.N161S 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA5 HGNC ENSG00000130037 81 0 0 66 17 20.4819 KRT5 0 genome.wustl.edu 37 12 52913955 52913955 + Silent SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 52913955 52913955 A G SNP KRT5 ENST00000252242 human ensembl 74_37 -1 known silent c.126 p.G42 0.723 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT5 HGNC ENSG00000186081 66 0 0 47 6 11.3208 KRT76 0 genome.wustl.edu 37 12 53170507 53170507 + Missense_Mutation SNP A A C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 53170507 53170507 A C SNP KRT76 ENST00000332411 human ensembl 74_37 -1 known missense c.569 p.L190R 1.000 pfam_IF,prints_Keratin_II pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT76 HGNC ENSG00000185069 140 0 0 93 24 20.5128 PFDN5 0 genome.wustl.edu 37 12 53691644 53691644 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 53691644 53691644 C T SNP PFDN5 ENST00000551018 human ensembl 74_37 +1 known missense c.218 p.P73L 1.000 pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin,tigrfam_PFD_alpha pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin,tigrfam_PFD_alpha - no_errors PFDN5 HGNC ENSG00000123349 71 0 0 56 13 18.8406 SP1 0 genome.wustl.edu 37 12 53775576 53775576 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 53775576 53775576 C T SNP SP1 ENST00000327443 human ensembl 74_37 +1 known silent c.141 p.S47 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP1 HGNC ENSG00000185591 106 0 0 103 6 5.50459 NFE2 0 genome.wustl.edu 37 12 54686543 54686543 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 54686543 54686543 G A SNP NFE2 ENST00000312156 human ensembl 74_37 -1 known missense c.737 p.P246L 0.992 pfam_bZIP_Maf,superfamily_TF_DNA-bd pfam_bZIP,pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2 HGNC ENSG00000123405 40 0 0 31 9 22.5 ITGA7 0 genome.wustl.edu 37 12 56078944 56078944 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 56078944 56078944 C A SNP ITGA7 ENST00000555728 human ensembl 74_37 -1 known missense c.3444 p.W1148C 1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA7 HGNC ENSG00000135424 43 0 0 38 14 26.9231 ERBB3 0 genome.wustl.edu 37 12 56481659 56481659 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 56481659 56481659 G A SNP ERBB3 ENST00000267101 human ensembl 74_37 +1 known missense c.694 p.A232T 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_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 ERBB3 HGNC ENSG00000065361 176 1 0.564972 153 41 21.134 ERBB3 0 genome.wustl.edu 37 12 56487185 56487185 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 56487185 56487185 G A SNP ERBB3 ENST00000267101 human ensembl 74_37 +1 known missense c.1331 p.R444Q 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_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 ERBB3 HGNC ENSG00000065361 72 0 0 76 15 16.4835 SMARCC2 0 genome.wustl.edu 37 12 56561898 56561898 + Missense_Mutation SNP G G C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 56561898 56561898 G C SNP SMARCC2 ENST00000267064 human ensembl 74_37 -1 known missense c.2703 p.I901M 1.000 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 81 0 0 73 21 22.3404 SMARCC2 0 genome.wustl.edu 37 12 56567584 56567584 + Missense_Mutation SNP C C G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 56567584 56567584 C G SNP SMARCC2 ENST00000267064 human ensembl 74_37 -1 known missense c.1546 p.A516P 1.000 superfamily_Homeodomain-like,superfamily_Chromodomain-like,pfscan_SWIRM pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 175 0 0 160 9 5.32544 INHBC 0 genome.wustl.edu 37 12 57843561 57843561 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 57843561 57843561 C T SNP INHBC ENST00000309668 human ensembl 74_37 +1 known missense c.815 p.A272V 0.965 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaC - no_errors INHBC HGNC ENSG00000175189 37 0 0 38 8 17.3913 ARHGEF25 0 genome.wustl.edu 37 12 58004404 58004404 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 58004404 58004404 C T SNP ARHGEF25 ENST00000333972 human ensembl 74_37 +1 known missense c.151 p.R51C 0.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF25 HGNC ENSG00000240771 48 0 0 36 8 18.1818 CD9 0 genome.wustl.edu 37 12 6344406 6344406 + Missense_Mutation SNP A A C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 6344406 6344406 A C SNP CD9 ENST00000009180 human ensembl 74_37 +1 known missense c.360 p.E120D 0.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors CD9 HGNC ENSG00000010278 149 0 0 149 31 17.2222 AVPR1A 0 genome.wustl.edu 37 12 63544480 63544480 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 63544480 63544480 C T SNP AVPR1A ENST00000299178 human ensembl 74_37 -1 known missense c.137 p.R46H 1.000 prints_Vprs_V1A_rcpt,prints_Vasoprsn_rcpt pfam_GPCR_Rhodpsn,pfam_DUF1856,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_V1A_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors AVPR1A HGNC ENSG00000166148 49 0 0 47 4 7.84314 TBK1 0 genome.wustl.edu 37 12 64891772 64891772 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 64891772 64891772 G T SNP TBK1 ENST00000331710 human ensembl 74_37 +1 known missense c.2091 p.M697I 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 TBK1 HGNC ENSG00000183735 47 0 0 50 6 10.7143 NOP2 0 genome.wustl.edu 37 12 6672481 6672481 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 6672481 6672481 C A SNP NOP2 ENST00000322166 human ensembl 74_37 -1 known missense c.888 p.E296D 1.000 prints_RCMT_NOP2 pfam_Fmu/NOL1/Nop2p,pfam_P120R,pfam_rRNA_MeTrfase_FtsJ_dom,prints_RCMT,prints_RCMT_NOP2,tigrfam_Nop2p - no_errors NOP2 HGNC ENSG00000111641 9 0 0 9 2 18.1818 GRIP1 0 genome.wustl.edu 37 12 66800084 66800084 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 66800084 66800084 G A SNP GRIP1 ENST00000359742 human ensembl 74_37 -1 known missense c.1963 p.R655C 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC ENSG00000155974 66 0 0 76 17 18.2796 C12orf57 0 genome.wustl.edu 37 12 7055033 7055033 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 7055033 7055033 T C SNP C12orf57 ENST00000229281 human ensembl 74_37 +1 known missense c.329 p.M110T 1.000 NULL NULL - no_errors C12orf57 HGNC ENSG00000111678 23 0 0 14 2 12.5 E2F7 0 genome.wustl.edu 37 12 77440093 77440093 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 77440093 77440093 C T SNP E2F7 ENST00000322886 human ensembl 74_37 -1 known missense c.554 p.R185H 1.000 pfam_E2F_TDP pfam_E2F_TDP - no_errors E2F7 HGNC ENSG00000165891 28 0 0 31 9 22.5 NAV3 0 genome.wustl.edu 37 12 78225343 78225343 + Silent SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 78225343 78225343 A G SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known silent c.102 p.S34 0.152 superfamily_CH-domain pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 82 0 0 109 17 13.4921 NAV3 0 genome.wustl.edu 37 12 78592446 78592446 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 78592446 78592446 C T SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known missense c.6508 p.H2170Y 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 61 0 0 75 13 14.7727 DPPA3 0 genome.wustl.edu 37 12 7867781 7867781 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 7867781 7867781 G A SNP DPPA3 ENST00000345088 human ensembl 74_37 +1 known missense c.85 p.A29T 0.000 NULL NULL - no_errors DPPA3 HGNC ENSG00000187569 140 0 0 122 18 12.8571 PPFIA2 0 genome.wustl.edu 37 12 82147944 82147944 + Silent SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 82147944 82147944 C A SNP PPFIA2 ENST00000549396 human ensembl 74_37 -1 known silent c.57 p.G19 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC ENSG00000139220 22 0 0 19 3 13.6364 GALNT4 0 genome.wustl.edu 37 12 89917656 89917656 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 89917656 89917656 G A SNP GALNT4 ENST00000529983 human ensembl 74_37 -1 known missense c.671 p.T224I 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT4 HGNC ENSG00000257594 83 0 0 81 11 11.9565 A2ML1 0 genome.wustl.edu 37 12 8995753 8995753 + Silent SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 8995753 8995753 A G SNP A2ML1 ENST00000299698 human ensembl 74_37 +1 known silent c.1272 p.L424 0.000 NULL pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors A2ML1 HGNC ENSG00000166535 76 0 0 60 14 18.9189 EEA1 0 genome.wustl.edu 37 12 93170622 93170622 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 93170622 93170622 G A SNP EEA1 ENST00000322349 human ensembl 74_37 -1 known missense c.4111 p.R1371W 1.000 pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors EEA1 HGNC ENSG00000102189 88 0 0 112 9 7.43802 PLXNC1 0 genome.wustl.edu 37 12 94620456 94620456 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 94620456 94620456 C T SNP PLXNC1 ENST00000258526 human ensembl 74_37 +1 known silent c.1866 p.C622 0.624 superfamily_Plexin-like_fold,smart_Plexin-like_fold pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNC1 HGNC ENSG00000136040 90 0 0 76 5 6.17284 VEZT 0 genome.wustl.edu 37 12 95663939 95663939 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 95663939 95663939 C T SNP VEZT ENST00000436874 human ensembl 74_37 +1 known silent c.823 p.L275 1.000 NULL NULL - no_errors VEZT HGNC ENSG00000028203 13 0 0 11 6 35.2941 NALCN 0 genome.wustl.edu 37 13 101714336 101714336 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 13 101714336 101714336 A G SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.4739 p.L1580P 0.987 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 85 0 0 63 22 25.8824 ARGLU1 0 genome.wustl.edu 37 13 107209529 107209529 + RNA SNP T T G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 13 107209529 107209529 T G SNP ARGLU1 ENST00000472226 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ARGLU1 HGNC ENSG00000134884 12 0 0 22 7 24.1379 COL4A2 0 genome.wustl.edu 37 13 111082961 111082961 + RNA SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 13 111082961 111082961 A G SNP COL4A2 ENST00000462309 human ensembl 74_37 +1 putative rna NULL NULL 0.681 - - - no_errors COL4A2 HGNC ENSG00000134871 76 0 0 65 31 32.2917 COL4A2 0 genome.wustl.edu 37 13 111164351 111164351 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 13 111164351 111164351 G T SNP COL4A2 ENST00000360467 human ensembl 74_37 +1 known missense c.4952 p.R1651L 1.000 pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A2 HGNC ENSG00000134871 134 0 0 112 20 15.1515 MCF2L 0 genome.wustl.edu 37 13 113742666 113742666 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 13 113742666 113742666 C T SNP MCF2L ENST00000375604 human ensembl 74_37 +1 known missense c.2885 p.A962V 0.919 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors MCF2L HGNC ENSG00000126217 85 0 0 70 19 21.3483 PCID2 0 genome.wustl.edu 37 13 113838692 113838692 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 13 113838692 113838692 C T SNP PCID2 ENST00000246505 human ensembl 74_37 -1 known missense c.815 p.R272H 1.000 smart_PAM pfam_PCI_dom,smart_PAM - no_errors PCID2 HGNC ENSG00000126226 111 0 0 106 26 19.697 GAS6 0 genome.wustl.edu 37 13 114538550 114538550 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 13 114538550 114538550 G A SNP GAS6 ENST00000357389 human ensembl 74_37 -1 known silent c.648 p.P216 0.064 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,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 GAS6 HGNC ENSG00000183087 66 0 0 61 10 14.0845 TNFRSF19 0 genome.wustl.edu 37 13 24233225 24233225 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 13 24233225 24233225 C T SNP TNFRSF19 ENST00000382258 human ensembl 74_37 +1 known missense c.482 p.T161M 0.998 prints_TNFR_19 smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_19 - no_errors TNFRSF19 HGNC ENSG00000127863 71 0 0 68 11 13.9241 SPATA13 0 genome.wustl.edu 37 13 24852931 24852931 + Missense_Mutation SNP A A C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 13 24852931 24852931 A C SNP SPATA13 ENST00000343003 human ensembl 74_37 +1 known missense c.93 p.E31D 0.003 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors SPATA13 HGNC ENSG00000182957 13 0 0 17 6 26.087 AMER2 0 genome.wustl.edu 37 13 25744119 25744119 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 13 25744119 25744119 G A SNP AMER2 ENST00000515384 human ensembl 74_37 -1 known missense c.1639 p.R547W 0.980 pfam_Uncharacterised_FAM123 pfam_Uncharacterised_FAM123 - no_errors AMER2 HGNC ENSG00000165566 64 0 0 53 8 13.1148 CDK8 0 genome.wustl.edu 37 13 26978283 26978283 + RNA SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 13 26978283 26978283 C T SNP CDK8 ENST00000477277 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CDK8 HGNC ENSG00000132964 29 0 0 20 2 9.09091 LNX2 0 genome.wustl.edu 37 13 28130443 28130443 + Silent SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 13 28130443 28130443 A G SNP LNX2 ENST00000316334 human ensembl 74_37 -1 known silent c.1476 p.G492 0.003 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors LNX2 HGNC ENSG00000139517 62 0 0 66 12 15.3846 FLT1 0 genome.wustl.edu 37 13 28897011 28897011 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 13 28897011 28897011 G T SNP FLT1 ENST00000282397 human ensembl 74_37 -1 known missense c.2869 p.L957I 0.997 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_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 81 0 0 110 8 6.77966 EEF1DP3 0 genome.wustl.edu 37 13 32527044 32527044 + RNA SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 13 32527044 32527044 G A SNP EEF1DP3 ENST00000428783 human ensembl 74_37 +1 known rna NULL NULL 0.444 - - - no_errors EEF1DP3 HGNC ENSG00000229715 33 0 0 29 4 12.1212 FRY 0 genome.wustl.edu 37 13 32758746 32758746 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 13 32758746 32758746 C T SNP FRY ENST00000380250 human ensembl 74_37 +1 known missense c.3064 p.R1022C 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 27 0 0 23 5 17.8571 BRCA2 0 genome.wustl.edu 37 13 32912505 32912505 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 13 32912505 32912505 G A SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known missense c.4013 p.G1338D 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 32 0 0 27 6 18.1818 BRCA2 0 genome.wustl.edu 37 13 32914237 32914237 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 13 32914237 32914237 G A SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known silent c.5745 p.T1915 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 52 0 0 40 13 24.5283 NBEA 0 genome.wustl.edu 37 13 35517248 35517248 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 13 35517248 35517248 C T SNP NBEA ENST00000310336 human ensembl 74_37 +1 known silent c.291 p.N97 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 247 1 0.403226 173 33 16.0194 SMAD9 0 genome.wustl.edu 37 13 37453576 37453576 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 13 37453576 37453576 C T SNP SMAD9 ENST00000379826 human ensembl 74_37 -1 known missense c.251 p.R84H 1.000 pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1 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 SMAD9 HGNC ENSG00000120693 38 0 0 28 4 12.5 MRPS31 0 genome.wustl.edu 37 13 41328182 41328182 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 13 41328182 41328182 C T SNP MRPS31 ENST00000323563 human ensembl 74_37 -1 known missense c.787 p.A263T 0.000 NULL NULL - no_errors MRPS31 HGNC ENSG00000102738 29 0 0 38 3 7.31707 AKAP11 0 genome.wustl.edu 37 13 42874607 42874607 + Silent SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 13 42874607 42874607 A G SNP AKAP11 ENST00000025301 human ensembl 74_37 +1 known silent c.1725 p.S575 0.551 NULL NULL - no_errors AKAP11 HGNC ENSG00000023516 72 0 0 89 13 12.7451 PCDH20 0 genome.wustl.edu 37 13 61987886 61987886 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 13 61987886 61987886 G A SNP PCDH20 ENST00000409186 human ensembl 74_37 -1 known missense c.346 p.P116S 0.959 pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 21 0 0 16 5 23.8095 TBC1D4 0 genome.wustl.edu 37 13 75866265 75866265 + Silent SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 13 75866265 75866265 G T SNP TBC1D4 ENST00000377636 human ensembl 74_37 -1 known silent c.3459 p.T1153 0.354 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D4 HGNC ENSG00000136111 32 0 0 42 5 10.6383 TBC1D4 0 genome.wustl.edu 37 13 75873672 75873672 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 13 75873672 75873672 G A SNP TBC1D4 ENST00000377636 human ensembl 74_37 -1 known missense c.2950 p.L984F 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_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D4 HGNC ENSG00000136111 32 0 0 38 6 13.6364 SLAIN1 0 genome.wustl.edu 37 13 78293734 78293734 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 13 78293734 78293734 A G SNP SLAIN1 ENST00000466548 human ensembl 74_37 +1 known missense c.628 p.R210G 1.000 NULL NULL - no_errors SLAIN1 HGNC ENSG00000139737 117 0 0 121 24 16.5517 POU4F1 0 genome.wustl.edu 37 13 79175721 79175721 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 13 79175721 79175721 G A SNP POU4F1 ENST00000377208 human ensembl 74_37 -1 known silent c.1089 p.A363 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F1 HGNC ENSG00000152192 25 0 0 37 11 22.9167 SLITRK5 0 genome.wustl.edu 37 13 88328903 88328903 + Nonsense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 13 88328903 88328903 C A SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known nonsense c.1260 p.Y420* 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 35 0 0 31 4 11.4286 SLITRK5 0 genome.wustl.edu 37 13 88329623 88329623 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 13 88329623 88329623 G A SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known silent c.1980 p.S660 0.200 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 24 0 0 25 7 21.875 CLDN10 0 genome.wustl.edu 37 13 96086249 96086249 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 13 96086249 96086249 C T SNP CLDN10 ENST00000376873 human ensembl 74_37 +1 known silent c.162 p.N54 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin10 - no_errors CLDN10 HGNC ENSG00000134873 69 0 0 70 10 12.5 DOCK9 0 genome.wustl.edu 37 13 99459997 99459997 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 13 99459997 99459997 G A SNP DOCK9 ENST00000339416 human ensembl 74_37 -1 known missense c.5435 p.S1812L 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK9 HGNC ENSG00000088387 47 0 0 41 15 26.7857 DYNC1H1 0 genome.wustl.edu 37 14 102446161 102446161 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 102446161 102446161 G A SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known silent c.624 p.P208 0.614 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 132 0 0 121 33 21.4286 DYNC1H1 0 genome.wustl.edu 37 14 102493518 102493518 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 102493518 102493518 C T SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known missense c.8779 p.R2927C 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 301 0 0 268 55 17.0279 DYNC1H1 0 genome.wustl.edu 37 14 102505519 102505519 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 102505519 102505519 C T SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known silent c.11388 p.T3796 0.181 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 66 0 0 77 9 10.4651 TRAF3 0 genome.wustl.edu 37 14 103338278 103338278 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 103338278 103338278 G A SNP TRAF3 ENST00000392745 human ensembl 74_37 +1 known silent c.270 p.A90 0.997 pirsf_TNF_rcpt--assoc_TRAF,pfscan_Znf_RING pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF3 HGNC ENSG00000131323 77 0 0 66 19 22.3529 CDC42BPB 0 genome.wustl.edu 37 14 103470322 103470322 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 103470322 103470322 G A SNP CDC42BPB ENST00000361246 human ensembl 74_37 -1 known silent c.390 p.N130 0.937 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_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors CDC42BPB HGNC ENSG00000198752 39 0 0 30 5 14.2857 TDRD9 0 genome.wustl.edu 37 14 104508506 104508506 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 104508506 104508506 C T SNP TDRD9 ENST00000409874 human ensembl 74_37 +1 known missense c.3956 p.A1319V 0.213 NULL pfam_Helicase-assoc_dom,pfam_Tudor,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,smart_Tudor,pfscan_Tudor,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TDRD9 HGNC ENSG00000156414 52 0 0 46 7 13.2075 ASPG 0 genome.wustl.edu 37 14 104570673 104570673 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 104570673 104570673 C T SNP ASPG ENST00000455920 human ensembl 74_37 +1 known silent c.786 p.G262 0.847 pfam_Asparaginase/glutaminase,superfamily_Asparaginase/glutaminase,smart_Asparaginase/glutaminase,tigrfam_AsnASEI pfam_Asparaginase/glutaminase,pfam_Ankyrin_rpt,superfamily_Asparaginase/glutaminase,superfamily_Ankyrin_rpt-contain_dom,smart_Asparaginase/glutaminase,smart_Ankyrin_rpt,prints_Asparaginase/glutaminase,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_AsnASEI - no_errors ASPG HGNC ENSG00000166183 39 0 0 37 16 30.1887 INF2 0 genome.wustl.edu 37 14 105174271 105174271 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 105174271 105174271 G A SNP INF2 ENST00000392634 human ensembl 74_37 +1 known missense c.1667 p.R556Q 0.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom - no_errors INF2 HGNC ENSG00000203485 47 0 0 43 13 23.2143 AHNAK2 0 genome.wustl.edu 37 14 105407934 105407934 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 105407934 105407934 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.13854 p.H4618 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 78 0 0 54 15 21.7391 MTA1 0 genome.wustl.edu 37 14 105936475 105936475 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 105936475 105936475 C T SNP MTA1 ENST00000331320 human ensembl 74_37 +1 known missense c.2071 p.R691C 1.000 NULL pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors MTA1 HGNC ENSG00000182979 67 0 0 43 6 12.2449 POTEG 0 genome.wustl.edu 37 14 19574317 19574317 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 19574317 19574317 G A SNP POTEG ENST00000409832 human ensembl 74_37 +1 known silent c.1374 p.Q458 0.003 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEG HGNC ENSG00000222036 15 0 0 17 6 26.087 TEP1 0 genome.wustl.edu 37 14 20841475 20841475 + Silent SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 20841475 20841475 G T SNP TEP1 ENST00000262715 human ensembl 74_37 -1 known silent c.6768 p.A2256 0.982 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 63 0 0 84 10 10.6383 RNASE9 0 genome.wustl.edu 37 14 21025123 21025123 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 21025123 21025123 G T SNP RNASE9 ENST00000338904 human ensembl 74_37 -1 known missense c.106 p.P36T 0.000 NULL pfam_RNaseA_domain,superfamily_RNaseA_domain - no_errors RNASE9 HGNC ENSG00000188655 30 0 0 30 8 21.0526 ARHGEF40 0 genome.wustl.edu 37 14 21543656 21543656 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 21543656 21543656 C T SNP ARHGEF40 ENST00000298694 human ensembl 74_37 +1 known missense c.1616 p.T539M 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF40 HGNC ENSG00000165801 84 0 0 79 24 23.301 RPGRIP1 0 genome.wustl.edu 37 14 21769213 21769213 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 21769213 21769213 C T SNP RPGRIP1 ENST00000206660 human ensembl 74_37 +1 known missense c.307 p.R103C 0.002 NULL pfam_DUF3250,superfamily_C2_dom - no_errors RPGRIP1 HGNC ENSG00000092200 24 0 0 34 5 12.8205 MYH6 0 genome.wustl.edu 37 14 23869597 23869597 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 23869597 23869597 G A SNP MYH6 ENST00000356287 human ensembl 74_37 -1 known silent c.1449 p.N483 0.963 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 87 0 0 74 24 24.4898 PSME1 0 genome.wustl.edu 37 14 24607279 24607279 + Nonsense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 24607279 24607279 C T SNP PSME1 ENST00000382708 human ensembl 74_37 +1 known nonsense c.412 p.Q138* 1.000 pfam_Proteasome_activ_pa28_C,superfamily_Proteasome_activ_pa28 pfam_Proteasome_activ_pa28_C,pfam_Proteasome_activ_pa28_N,superfamily_Proteasome_activ_pa28 - no_errors PSME1 HGNC ENSG00000092010 127 0 0 91 16 14.9533 RNF31 0 genome.wustl.edu 37 14 24626574 24626574 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 24626574 24626574 G A SNP RNF31 ENST00000324103 human ensembl 74_37 +1 known missense c.2569 p.A857T 1.000 smart_Znf_C6HC pfam_PUB_domain,pfam_Znf_C6HC,superfamily_UBA-like,superfamily_DEATH-like_dom,superfamily_Znf_FYVE_PHD,smart_Znf_RanBP2,smart_Znf_C6HC,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RanBP2 - no_errors RNF31 HGNC ENSG00000092098 24 0 0 16 9 36 AKAP6 0 genome.wustl.edu 37 14 33291716 33291716 + Nonsense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 33291716 33291716 C A SNP AKAP6 ENST00000280979 human ensembl 74_37 +1 known nonsense c.4697 p.S1566* 1.000 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 115 1 0.862069 103 25 19.5312 KIAA0391 0 genome.wustl.edu 37 14 35742707 35742707 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 35742707 35742707 G A SNP KIAA0391 ENST00000534898 human ensembl 74_37 +1 known missense c.1687 p.D563N 0.996 NULL NULL - no_errors KIAA0391 HGNC ENSG00000100890 69 0 0 55 9 14.0625 MGAT2 0 genome.wustl.edu 37 14 50088553 50088553 + Silent SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 50088553 50088553 A G SNP MGAT2 ENST00000305386 human ensembl 74_37 +1 known silent c.567 p.P189 0.298 pfam_GlcNAc_II pfam_GlcNAc_II - no_errors MGAT2 HGNC ENSG00000168282 114 0 0 129 25 16.2338 POLE2 0 genome.wustl.edu 37 14 50146467 50146467 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 50146467 50146467 C T SNP POLE2 ENST00000216367 human ensembl 74_37 -1 known missense c.221 p.C74Y 1.000 pfam_DNA_pol_e_bsu_N,pirsf_DNA_pol_e_bsu pfam_DNA_pol_alpha/epsilon_bsu,pfam_DNA_pol_e_bsu_N,pirsf_DNA_pol_e_bsu - no_errors POLE2 HGNC ENSG00000100479 65 0 0 60 7 10.4478 PYGL 0 genome.wustl.edu 37 14 51411117 51411117 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 51411117 51411117 G A SNP PYGL ENST00000216392 human ensembl 74_37 -1 known missense c.5 p.A2V 1.000 NULL pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGL HGNC ENSG00000100504 17 0 0 15 3 16.6667 RPL13AP3 0 genome.wustl.edu 37 14 56233151 56233151 + RNA SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 56233151 56233151 G A SNP RPL13AP3 ENST00000494676 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RPL13AP3 HGNC ENSG00000177350 9 0 0 9 4 30.7692 KIAA0586 0 genome.wustl.edu 37 14 58954677 58954677 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 58954677 58954677 C T SNP KIAA0586 ENST00000556134 human ensembl 74_37 +1 known missense c.3332 p.A1111V 0.989 NULL NULL - no_errors KIAA0586 HGNC ENSG00000100578 30 0 0 22 3 12 L3HYPDH 0 genome.wustl.edu 37 14 59942860 59942860 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 59942860 59942860 C T SNP L3HYPDH ENST00000247194 human ensembl 74_37 -1 known missense c.751 p.A251T 0.955 pfam_Pro_racemase_fam,pirsf_Pro_racemase_fam pfam_Pro_racemase_fam,pirsf_Pro_racemase_fam - no_errors L3HYPDH HGNC ENSG00000126790 88 0 0 79 20 20.202 JKAMP 0 genome.wustl.edu 37 14 59961932 59961932 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 59961932 59961932 G A SNP JKAMP ENST00000356057 human ensembl 74_37 +1 known missense c.472 p.V158I 1.000 pfam_DUF766 pfam_DUF766 - no_errors JKAMP HGNC ENSG00000050130 43 0 0 33 20 37.7358 SYT16 0 genome.wustl.edu 37 14 62547763 62547763 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 62547763 62547763 G A SNP SYT16 ENST00000430451 human ensembl 74_37 +1 novel missense c.1205 p.G402D 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYT16 HGNC ENSG00000139973 23 0 0 22 5 18.5185 SPTB 0 genome.wustl.edu 37 14 65251050 65251050 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 65251050 65251050 C T SNP SPTB ENST00000389722 human ensembl 74_37 -1 known missense c.3917 p.R1306Q 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTB HGNC ENSG00000070182 107 0 0 106 24 18.4615 SPTB 0 genome.wustl.edu 37 14 65253729 65253729 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 65253729 65253729 C T SNP SPTB ENST00000389722 human ensembl 74_37 -1 known missense c.2954 p.R985Q 0.985 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTB HGNC ENSG00000070182 39 0 0 36 11 23.4043 FNTB 0 genome.wustl.edu 37 14 65392757 65392757 + Missense_Mutation SNP G G C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 65392757 65392757 G C SNP FNTB ENST00000447296 human ensembl 74_37 +1 known missense c.205 p.A69P 1.000 pfam_Transcrpt_activator_Churchill,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_Prenyltrans,pfam_Transcrpt_activator_Churchill,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors FNTB HGNC ENSG00000257365 174 0 0 182 39 17.6471 SLC8A3 0 genome.wustl.edu 37 14 70517819 70517819 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 70517819 70517819 C T SNP SLC8A3 ENST00000381269 human ensembl 74_37 -1 known silent c.2037 p.T679 0.026 tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A3 HGNC ENSG00000100678 57 0 0 46 13 22.0339 PCNX 0 genome.wustl.edu 37 14 71479728 71479728 + Silent SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 71479728 71479728 T C SNP PCNX ENST00000304743 human ensembl 74_37 +1 known silent c.2805 p.N935 1.000 NULL pfam_Pecanex - no_errors PCNX HGNC ENSG00000100731 112 0 0 87 19 17.9245 HEATR4 0 genome.wustl.edu 37 14 73945320 73945320 + Silent SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 73945320 73945320 A G SNP HEATR4 ENST00000334988 human ensembl 74_37 -1 known silent c.3072 p.A1024 0.000 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors HEATR4 HGNC ENSG00000187105 82 0 0 56 9 13.8462 PNMA1 0 genome.wustl.edu 37 14 74179982 74179982 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 74179982 74179982 G A SNP PNMA1 ENST00000316836 human ensembl 74_37 -1 known missense c.361 p.R121C 1.000 NULL superfamily_Globin-like - no_errors PNMA1 HGNC ENSG00000176903 131 0 0 101 30 22.9008 COQ6 0 genome.wustl.edu 37 14 74428588 74428588 + Silent SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 74428588 74428588 T C SNP COQ6 ENST00000334571 human ensembl 74_37 +1 known silent c.1359 p.N453 1.000 tigrfam_UbQ_biosynth_mOase,tigrfam_Ubi_Hdrxlases pfam_mOase_FAD-bd,prints_Rng_hydrolase-like,tigrfam_UbQ_biosynth_mOase,tigrfam_Ubi_Hdrxlases - no_errors COQ6 HGNC ENSG00000119723 142 0 0 114 18 13.6364 LTBP2 0 genome.wustl.edu 37 14 75002696 75002696 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 75002696 75002696 C T SNP LTBP2 ENST00000261978 human ensembl 74_37 -1 known silent c.1797 p.P599 0.745 superfamily_TB_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 53 0 0 53 13 19.697 ESRRB 0 genome.wustl.edu 37 14 76905756 76905756 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 76905756 76905756 G A SNP ESRRB ENST00000380887 human ensembl 74_37 +1 known silent c.60 p.P20 0.552 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors ESRRB HGNC ENSG00000119715 55 0 0 57 6 9.52381 SAMD15 0 genome.wustl.edu 37 14 77846757 77846757 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 77846757 77846757 G A SNP SAMD15 ENST00000216471 human ensembl 74_37 +1 known missense c.1721 p.R574Q 0.998 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD15 HGNC ENSG00000100583 72 0 0 66 16 19.5122 NRXN3 0 genome.wustl.edu 37 14 80164095 80164095 + Missense_Mutation SNP G G C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 80164095 80164095 G C SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known missense c.3796 p.A1266P 1.000 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 40 0 0 46 9 16.3636 STON2 0 genome.wustl.edu 37 14 81837459 81837459 + Silent SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 81837459 81837459 A G SNP STON2 ENST00000267540 human ensembl 74_37 -1 known silent c.444 p.S148 0.099 pfam_Stonin2_N,pirsf_Stonin pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON2 HGNC ENSG00000140022 130 0 0 113 11 8.87097 SEL1L 0 genome.wustl.edu 37 14 81945992 81945992 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 81945992 81945992 G A SNP SEL1L ENST00000336735 human ensembl 74_37 -1 known silent c.2139 p.G713 0.000 NULL pfam_Sel1-like,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_Sel1-like,pfscan_FN_type2_col-bd - no_errors SEL1L HGNC ENSG00000071537 52 0 0 53 11 17.1875 PTPN21 0 genome.wustl.edu 37 14 88945359 88945359 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 88945359 88945359 G A SNP PTPN21 ENST00000328736 human ensembl 74_37 -1 known missense c.2416 p.R806C 0.293 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 59 0 0 48 17 26.1538 PTPN21 0 genome.wustl.edu 37 14 88946027 88946027 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 88946027 88946027 C T SNP PTPN21 ENST00000328736 human ensembl 74_37 -1 known missense c.1748 p.R583H 0.997 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 13 0 0 17 5 22.7273 BTBD7 0 genome.wustl.edu 37 14 93760654 93760654 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 93760654 93760654 G A SNP BTBD7 ENST00000334746 human ensembl 74_37 -1 known missense c.712 p.R238C 1.000 smart_BTB/POZ-like pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD7 HGNC ENSG00000011114 54 0 0 51 13 20.3125 UNC79 0 genome.wustl.edu 37 14 94173056 94173056 + Missense_Mutation SNP T T A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 94173056 94173056 T A SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known missense c.7780 p.S2594T 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 64 0 0 72 20 21.7391 SERPINA13P 0 genome.wustl.edu 37 14 95107973 95107973 + RNA SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 95107973 95107973 C A SNP SERPINA13P ENST00000469935 human ensembl 74_37 +1 known rna NULL NULL 0.667 - - - no_errors SERPINA13P HGNC ENSG00000187483 21 0 0 17 6 26.087 DICER1 0 genome.wustl.edu 37 14 95574428 95574428 + Silent SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 95574428 95574428 A G SNP DICER1 ENST00000343455 human ensembl 74_37 -1 known silent c.2439 p.I813 0.832 NULL pfam_RNase_III_dom,pfam_PAZ_dom,pfam_Dicer_dimerisation_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_P-loop_NTPase,superfamily_PAZ_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_PAZ_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom - no_errors DICER1 HGNC ENSG00000100697 25 0 0 22 6 21.4286 DICER1 0 genome.wustl.edu 37 14 95590932 95590932 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 95590932 95590932 A G SNP DICER1 ENST00000343455 human ensembl 74_37 -1 known missense c.977 p.V326A 0.999 superfamily_P-loop_NTPase 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 76 0 0 57 22 27.8481 CLMN 0 genome.wustl.edu 37 14 95670279 95670279 + Silent SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 95670279 95670279 A G SNP CLMN ENST00000298912 human ensembl 74_37 -1 known silent c.1407 p.A469 0.000 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors CLMN HGNC ENSG00000165959 31 0 0 24 3 11.1111 HERC2P3 0 genome.wustl.edu 37 15 20644872 20644872 + RNA SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 15 20644872 20644872 A G SNP HERC2P3 ENST00000426501 human ensembl 74_37 -1 known rna NULL NULL 0.995 - - - no_errors HERC2P3 HGNC ENSG00000180229 32 0 0 25 6 19.3548 SNORD116-26 0 genome.wustl.edu 37 15 25344681 25344681 + RNA SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 15 25344681 25344681 C T SNP SNORD116-26 ENST00000516006 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNORD116-26 HGNC ENSG00000251815 94 0 0 65 18 21.6867 ATP10A 0 genome.wustl.edu 37 15 25959170 25959170 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 15 25959170 25959170 G A SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known silent c.1995 p.I665 0.000 superfamily_HAD-like_dom 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 31 0 0 28 10 26.3158 NUTM1 0 genome.wustl.edu 37 15 34640629 34640629 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 15 34640629 34640629 C T SNP NUTM1 ENST00000333756 human ensembl 74_37 +1 known missense c.476 p.P159L 0.011 NULL NULL - no_errors NUTM1 HGNC ENSG00000184507 15 0 0 19 7 26.9231 GJD2 0 genome.wustl.edu 37 15 35045231 35045231 + Silent SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 15 35045231 35045231 G T SNP GJD2 ENST00000290374 human ensembl 74_37 -1 known silent c.414 p.G138 0.988 prints_Connexin36 pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin36 - no_errors GJD2 HGNC ENSG00000159248 166 0 0 145 41 22.043 PLCB2 0 genome.wustl.edu 37 15 40590824 40590824 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 15 40590824 40590824 G A SNP PLCB2 ENST00000260402 human ensembl 74_37 -1 known silent c.936 p.H312 0.121 pirsf_PLC-beta,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB2 HGNC ENSG00000137841 62 0 0 61 10 14.0845 INO80 0 genome.wustl.edu 37 15 41364223 41364223 + Nonsense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 15 41364223 41364223 G A SNP INO80 ENST00000361937 human ensembl 74_37 -1 known nonsense c.1429 p.R477* 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors INO80 HGNC ENSG00000128908 59 0 0 48 11 18.6441 RTF1 0 genome.wustl.edu 37 15 41762553 41762553 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 15 41762553 41762553 C T SNP RTF1 ENST00000389629 human ensembl 74_37 +1 known missense c.988 p.R330C 1.000 NULL pfam_Plus-3,smart_Plus3-dom_subgr - no_errors RTF1 HGNC ENSG00000137815 253 0 0 273 67 19.7059 SHF 0 genome.wustl.edu 37 15 45464123 45464123 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 15 45464123 45464123 C T SNP SHF ENST00000318390 human ensembl 74_37 -1 known missense c.1073 p.R358H 1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SHF HGNC ENSG00000138606 48 0 0 34 10 22.7273 FAM214A 0 genome.wustl.edu 37 15 52877021 52877021 + Nonsense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 15 52877021 52877021 G A SNP FAM214A ENST00000261844 human ensembl 74_37 -1 known nonsense c.2998 p.Q1000* 1.000 NULL NULL - no_errors FAM214A HGNC ENSG00000047346 31 0 0 30 3 9.09091 RFX7 0 genome.wustl.edu 37 15 56386689 56386689 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 15 56386689 56386689 G A SNP RFX7 ENST00000423270 human ensembl 74_37 -1 known silent c.3237 p.G1079 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX7 HGNC ENSG00000181827 93 0 0 72 14 16.2791 HERC1 0 genome.wustl.edu 37 15 64026998 64026998 + Silent SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 15 64026998 64026998 T C SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known silent c.2571 p.L857 0.989 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 19 0 0 18 4 18.1818 TRIP4 0 genome.wustl.edu 37 15 64687698 64687698 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 15 64687698 64687698 G A SNP TRIP4 ENST00000261884 human ensembl 74_37 +1 known missense c.373 p.A125T 0.000 NULL pfam_ASCH_domain,pfam_Znf_C2HC5,superfamily_PUA-like_domain - no_errors TRIP4 HGNC ENSG00000103671 80 0 0 91 17 15.7407 ITGA11 0 genome.wustl.edu 37 15 68619070 68619070 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 15 68619070 68619070 G A SNP ITGA11 ENST00000315757 human ensembl 74_37 -1 known silent c.2133 p.G711 0.003 pfam_Integrin_alpha-2 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 ITGA11 HGNC ENSG00000137809 8 0 0 7 3 30 GRAMD2 0 genome.wustl.edu 37 15 72459382 72459382 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 15 72459382 72459382 G A SNP GRAMD2 ENST00000309731 human ensembl 74_37 -1 known missense c.424 p.R142W 0.731 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD2 HGNC ENSG00000175318 72 0 0 88 14 13.7255 STRA6 0 genome.wustl.edu 37 15 74476319 74476319 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 15 74476319 74476319 C T SNP STRA6 ENST00000563965 human ensembl 74_37 -1 known missense c.1295 p.R432Q 0.024 NULL NULL - no_errors STRA6 HGNC ENSG00000137868 39 0 0 46 10 17.8571 MPI 0 genome.wustl.edu 37 15 75189976 75189976 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 15 75189976 75189976 G A SNP MPI ENST00000352410 human ensembl 74_37 +1 known missense c.1177 p.G393S 1.000 superfamily_RmlC_Cupin,pirsf_Mannose-6-P_Isomerase,tigrfam_Man6P_Isoase-1 pfam_Man6P_Isoase-1,superfamily_RmlC_Cupin,pirsf_Mannose-6-P_Isomerase,prints_Mannose-6-P_Isomerase,tigrfam_Man6P_Isoase-1 - no_errors MPI HGNC ENSG00000178802 92 0 0 94 10 9.61538 SNX33 0 genome.wustl.edu 37 15 75941857 75941857 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 15 75941857 75941857 C T SNP SNX33 ENST00000308527 human ensembl 74_37 +1 known silent c.414 p.N138 0.037 pirsf_Snx9 pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain - no_errors SNX33 HGNC ENSG00000173548 77 0 0 73 4 5.19481 MESDC2 0 genome.wustl.edu 37 15 81271767 81271767 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 15 81271767 81271767 G A SNP MESDC2 ENST00000261758 human ensembl 74_37 -1 known silent c.498 p.Y166 0.986 pfam_Mesoderm_development_cand-2 pfam_Mesoderm_development_cand-2 - no_errors MESDC2 HGNC ENSG00000117899 64 0 0 62 5 7.46269 MEX3B 0 genome.wustl.edu 37 15 82335526 82335526 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 15 82335526 82335526 G A SNP MEX3B ENST00000329713 human ensembl 74_37 -1 known missense c.1685 p.T562I 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3B HGNC ENSG00000183496 53 0 0 52 8 13.3333 HOMER2 0 genome.wustl.edu 37 15 83518521 83518521 + Silent SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 15 83518521 83518521 A G SNP HOMER2 ENST00000304231 human ensembl 74_37 -1 known silent c.1011 p.I337 0.636 NULL pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors HOMER2 HGNC ENSG00000103942 13 0 0 23 4 14.8148 PDE8A 0 genome.wustl.edu 37 15 85660938 85660938 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 15 85660938 85660938 C T SNP PDE8A ENST00000310298 human ensembl 74_37 +1 known silent c.1602 p.S534 0.003 NULL pfam_PDEase_catalytic_dom,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,superfamily_PAS,superfamily_CheY-like_superfamily,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS - no_errors PDE8A HGNC ENSG00000073417 159 1 0.625 164 23 12.2995 AKAP13 0 genome.wustl.edu 37 15 86124395 86124395 + Silent SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 15 86124395 86124395 C A SNP AKAP13 ENST00000361243 human ensembl 74_37 +1 known silent c.3096 p.A1032 0.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,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 AKAP13 HGNC ENSG00000170776 55 0 0 48 4 7.69231 AKAP13 0 genome.wustl.edu 37 15 86284413 86284413 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 15 86284413 86284413 A G SNP AKAP13 ENST00000361243 human ensembl 74_37 +1 known missense c.7757 p.Q2586R 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,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 AKAP13 HGNC ENSG00000170776 11 0 0 10 3 23.0769 ACAN 0 genome.wustl.edu 37 15 89392870 89392870 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 15 89392870 89392870 G T SNP ACAN ENST00000439576 human ensembl 74_37 +1 known missense c.1934 p.G645V 1.000 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors ACAN HGNC ENSG00000157766 19 0 0 28 7 20 RLBP1 0 genome.wustl.edu 37 15 89760393 89760393 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 15 89760393 89760393 C T SNP RLBP1 ENST00000268125 human ensembl 74_37 -1 known missense c.304 p.A102T 0.999 pfam_CRAL/TRIO_N_dom,superfamily_CRAL/TRIO_N_dom,prints_CRAL-bd_toc_tran pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran,pfscan_CRAL-TRIO_dom - no_errors RLBP1 HGNC ENSG00000140522 34 0 0 37 6 13.9535 FES 0 genome.wustl.edu 37 15 91433488 91433488 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 15 91433488 91433488 C T SNP FES ENST00000328850 human ensembl 74_37 +1 known missense c.1216 p.R406C 0.997 pirsf_Tyr_kinase_non-rcpt_Fes_subgr pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_FCH_dom,superfamily_Kinase-like_dom,superfamily_t-SNARE,smart_FCH_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH_dom,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors FES HGNC ENSG00000182511 30 0 0 26 4 13.3333 UNKL 0 genome.wustl.edu 37 16 1416381 1416381 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 1416381 1416381 G A SNP UNKL ENST00000389221 human ensembl 74_37 -1 known missense c.1903 p.R635C 0.060 NULL pfam_Znf_CCCH,smart_Znf_CCCH,pfscan_Znf_RING - no_errors UNKL HGNC ENSG00000059145 16 0 0 19 7 26.9231 MPV17L 0 genome.wustl.edu 37 16 15501834 15501834 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 15501834 15501834 C T SNP MPV17L ENST00000287594 human ensembl 74_37 +1 known missense c.385 p.R129C 0.730 NULL NULL - no_errors MPV17L HGNC ENSG00000156968 39 0 0 41 5 10.8696 MYH11 0 genome.wustl.edu 37 16 15832541 15832541 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 15832541 15832541 C T SNP MYH11 ENST00000396324 human ensembl 74_37 -1 known missense c.3023 p.R1008Q 1.000 superfamily_Prefoldin pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH11 HGNC ENSG00000133392 54 0 0 60 7 10.4478 CRAMP1L 0 genome.wustl.edu 37 16 1709951 1709951 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 1709951 1709951 C T SNP CRAMP1L ENST00000293925 human ensembl 74_37 +1 known missense c.2300 p.T767M 0.203 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors CRAMP1L HGNC ENSG00000007545 46 0 0 42 7 14.2857 SYT17 0 genome.wustl.edu 37 16 19191811 19191811 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 19191811 19191811 C T SNP SYT17 ENST00000355377 human ensembl 74_37 +1 known missense c.281 p.S94L 0.994 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT17 HGNC ENSG00000103528 57 0 0 55 11 16.6667 CCP110 0 genome.wustl.edu 37 16 19548145 19548145 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 19548145 19548145 C T SNP CCP110 ENST00000381396 human ensembl 74_37 +1 known missense c.1154 p.A385V 0.835 NULL NULL - no_errors CCP110 HGNC ENSG00000103540 38 0 0 39 3 7.14286 IQCK 0 genome.wustl.edu 37 16 19745048 19745048 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 19745048 19745048 A G SNP IQCK ENST00000320394 human ensembl 74_37 +1 known missense c.275 p.H92R 0.000 NULL NULL - no_errors IQCK HGNC ENSG00000174628 100 0 0 114 7 5.78512 TBL3 0 genome.wustl.edu 37 16 2025090 2025090 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 2025090 2025090 C T SNP TBL3 ENST00000568546 human ensembl 74_37 +1 known missense c.626 p.T209I 0.983 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp13,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL3 HGNC ENSG00000183751 50 0 0 38 6 13.6364 DNAH3 0 genome.wustl.edu 37 16 20975853 20975853 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 20975853 20975853 G A SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.9353 p.A3118V 0.995 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 167 0 0 151 33 17.9348 DNAH3 0 genome.wustl.edu 37 16 21053360 21053360 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 21053360 21053360 C T SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.4627 p.D1543N 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 65 0 0 74 12 13.9535 DNAH3 0 genome.wustl.edu 37 16 21060917 21060917 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 21060917 21060917 C T SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known silent c.4434 p.A1478 0.996 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 87 0 0 91 21 18.75 HS3ST2 0 genome.wustl.edu 37 16 22926539 22926539 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 22926539 22926539 G A SNP HS3ST2 ENST00000261374 human ensembl 74_37 +1 known missense c.760 p.V254M 0.980 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST2 HGNC ENSG00000122254 142 0 0 141 25 15.0602 HBQ1 0 genome.wustl.edu 37 16 231069 231069 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 231069 231069 A G SNP HBQ1 ENST00000199708 human ensembl 74_37 +1 known missense c.391 p.S131G 0.099 superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_a pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_a,prints_Haemoglobin_pi - no_errors HBQ1 HGNC ENSG00000086506 47 0 0 56 16 22.2222 UBFD1 0 genome.wustl.edu 37 16 23569516 23569516 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 23569516 23569516 A G SNP UBFD1 ENST00000219638 human ensembl 74_37 +1 known missense c.943 p.I315V 1.000 smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors UBFD1 HGNC ENSG00000103353 89 0 0 59 17 22.3684 AQP8 0 genome.wustl.edu 37 16 25238448 25238448 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 25238448 25238448 C A SNP AQP8 ENST00000219660 human ensembl 74_37 +1 known missense c.662 p.A221D 1.000 pfam_MIP,superfamily_Aquaporin-like pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_8,prints_MIP - no_errors AQP8 HGNC ENSG00000103375 87 0 0 65 14 17.7215 SNX29P2 0 genome.wustl.edu 37 16 29323747 29323747 + RNA SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 29323747 29323747 C T SNP SNX29P2 ENST00000398878 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors SNX29P2 HGNC ENSG00000198106 42 0 0 29 4 12.1212 RNF40 0 genome.wustl.edu 37 16 30785346 30785346 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 30785346 30785346 C T SNP RNF40 ENST00000324685 human ensembl 74_37 +1 known missense c.2917 p.R973W 1.000 smart_Znf_RING,pfscan_Znf_RING smart_Znf_RING,pfscan_Znf_RING - no_errors RNF40 HGNC ENSG00000103549 105 0 0 87 23 20.9091 SETD1A 0 genome.wustl.edu 37 16 30991437 30991437 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 30991437 30991437 C T SNP SETD1A ENST00000262519 human ensembl 74_37 +1 known missense c.4330 p.R1444W 0.959 pfam_COMPASS_Set1_N-SET pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1A HGNC ENSG00000099381 57 0 0 54 15 21.7391 PYDC1 0 genome.wustl.edu 37 16 31228238 31228238 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 31228238 31228238 G A SNP PYDC1 ENST00000302964 human ensembl 74_37 -1 known missense c.112 p.R38C 0.000 pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN - no_errors PYDC1 HGNC ENSG00000169900 44 0 0 33 12 26.6667 ITGAX 0 genome.wustl.edu 37 16 31383830 31383830 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 31383830 31383830 C T SNP ITGAX ENST00000268296 human ensembl 74_37 +1 known silent c.2292 p.S764 0.123 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAX HGNC ENSG00000140678 25 0 0 23 4 14.8148 SLX4 0 genome.wustl.edu 37 16 3640830 3640830 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 3640830 3640830 C A SNP SLX4 ENST00000294008 human ensembl 74_37 -1 known missense c.2809 p.G937W 0.001 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 57 0 0 68 13 16.0494 DNASE1 0 genome.wustl.edu 37 16 3706656 3706656 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 3706656 3706656 C T SNP DNASE1 ENST00000246949 human ensembl 74_37 +1 known missense c.338 p.A113V 0.071 pirsf_DNase_I,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,prints_DNase_I pirsf_DNase_I,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,prints_DNase_I - no_errors DNASE1 HGNC ENSG00000213918 22 0 0 20 4 16.6667 CREBBP 0 genome.wustl.edu 37 16 3777763 3777763 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 3777763 3777763 C T SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known missense c.7285 p.D2429N 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 184 0 0 158 24 13.1868 LOC100134368 0 genome.wustl.edu 37 16 437019 437019 + RNA SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 437019 437019 C T SNP LOC100134368 ENST00000457760 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors Z97634.3 Clone_based_vega_gene ENSG00000236829 66 0 0 59 8 11.9403 MGRN1 0 genome.wustl.edu 37 16 4730034 4730034 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 4730034 4730034 G A SNP MGRN1 ENST00000262370 human ensembl 74_37 +1 known missense c.1067 p.C356Y 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors MGRN1 HGNC ENSG00000102858 30 0 0 22 3 12 ABCC12 0 genome.wustl.edu 37 16 48138137 48138137 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 48138137 48138137 A G SNP ABCC12 ENST00000311303 human ensembl 74_37 -1 known missense c.2816 p.F939S 0.993 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC12 HGNC ENSG00000140798 80 0 0 82 15 15.4639 UBN1 0 genome.wustl.edu 37 16 4908638 4908638 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 4908638 4908638 G A SNP UBN1 ENST00000262376 human ensembl 74_37 +1 known missense c.406 p.D136N 1.000 NULL NULL - no_errors UBN1 HGNC ENSG00000118900 65 0 0 49 12 19.6721 SALL1 0 genome.wustl.edu 37 16 51174228 51174228 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 51174228 51174228 C T SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known silent c.1905 p.P635 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 44 0 0 40 11 21.5686 CHD9 0 genome.wustl.edu 37 16 53341746 53341746 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 53341746 53341746 G A SNP CHD9 ENST00000398510 human ensembl 74_37 +1 known missense c.6934 p.D2312N 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC ENSG00000177200 25 0 0 23 3 11.5385 ZNF319 0 genome.wustl.edu 37 16 58031995 58031995 + Missense_Mutation SNP C C G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 58031995 58031995 C G SNP ZNF319 ENST00000299237 human ensembl 74_37 -1 known missense c.175 p.G59R 0.150 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF319 HGNC ENSG00000166188 41 0 0 33 8 19.5122 CDH11 0 genome.wustl.edu 37 16 65016141 65016141 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 65016141 65016141 C T SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known missense c.1063 p.D355N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 67 0 0 44 13 22.807 CDH11 0 genome.wustl.edu 37 16 65038624 65038624 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 65038624 65038624 C T SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known missense c.149 p.R50H 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 51 0 0 39 10 20.4082 KIAA0895L 0 genome.wustl.edu 37 16 67213378 67213378 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 67213378 67213378 C T SNP KIAA0895L ENST00000290881 human ensembl 74_37 -1 known missense c.802 p.G268R 0.993 pfam_DUF1704 pfam_DUF1704 - no_errors KIAA0895L HGNC ENSG00000196123 110 0 0 99 27 21.4286 GFOD2 0 genome.wustl.edu 37 16 67709886 67709886 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 67709886 67709886 C T SNP GFOD2 ENST00000268797 human ensembl 74_37 -1 known silent c.330 p.S110 0.009 NULL pfam_Oxidoreductase_N - no_errors GFOD2 HGNC ENSG00000141098 53 0 0 46 9 16.3636 DPEP2 0 genome.wustl.edu 37 16 68025854 68025854 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 68025854 68025854 G A SNP DPEP2 ENST00000393847 human ensembl 74_37 -1 known silent c.549 p.C183 1.000 pfam_Peptidase_M19 pfam_Peptidase_M19 - no_errors DPEP2 HGNC ENSG00000167261 78 0 0 47 15 24.1935 PLA2G15 0 genome.wustl.edu 37 16 68293136 68293136 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 68293136 68293136 A G SNP PLA2G15 ENST00000219345 human ensembl 74_37 +1 known missense c.815 p.Y272C 0.999 pfam_LACT/PDAT_acylTrfase pfam_LACT/PDAT_acylTrfase - no_errors PLA2G15 HGNC ENSG00000103066 58 0 0 53 4 7.01754 C16orf13 0 genome.wustl.edu 37 16 684595 684595 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 684595 684595 G A SNP C16orf13 ENST00000397666 human ensembl 74_37 -1 known silent c.549 p.S183 0.011 NULL pfam_DUF938 - no_errors C16orf13 HGNC ENSG00000130731 184 0 0 187 37 16.5179 CDH3 0 genome.wustl.edu 37 16 68732297 68732297 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 68732297 68732297 C T SNP CDH3 ENST00000264012 human ensembl 74_37 +1 known silent c.2484 p.D828 0.479 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH3 HGNC ENSG00000062038 51 0 0 44 15 25.4237 CIRH1A 0 genome.wustl.edu 37 16 69184788 69184788 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 69184788 69184788 G A SNP CIRH1A ENST00000314423 human ensembl 74_37 +1 known missense c.983 p.R328Q 1.000 superfamily_Quinonprotein_ADH-like_supfam pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CIRH1A HGNC ENSG00000141076 85 0 0 58 27 31.7647 WWP2 0 genome.wustl.edu 37 16 69875982 69875982 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 69875982 69875982 G A SNP WWP2 ENST00000356003 human ensembl 74_37 +1 known silent c.534 p.R178 0.992 NULL pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom - no_errors WWP2 HGNC ENSG00000198373 27 0 0 25 4 13.7931 VAC14 0 genome.wustl.edu 37 16 70806020 70806020 + Silent SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 70806020 70806020 A G SNP VAC14 ENST00000261776 human ensembl 74_37 -1 known silent c.1152 p.T384 0.993 superfamily_ARM-type_fold pfam_VAC14_Fig4p-bd,pfam_HEAT,superfamily_ARM-type_fold - no_errors VAC14 HGNC ENSG00000103043 45 0 0 43 3 6.52174 WDR90 0 genome.wustl.edu 37 16 708580 708580 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 708580 708580 G A SNP WDR90 ENST00000549091 human ensembl 74_37 +1 novel missense c.2822 p.R941H 0.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC ENSG00000161996 50 0 0 73 15 17.0455 ZFHX3 0 genome.wustl.edu 37 16 72845607 72845607 + Nonsense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 72845607 72845607 G A SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known nonsense c.3733 p.Q1245* 1.000 smart_Znf_C2H2-like 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 82 0 0 62 19 23.4568 ZFHX3 0 genome.wustl.edu 37 16 72993115 72993115 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 72993115 72993115 G A SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known silent c.930 p.S310 0.995 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 38 0 0 43 6 12.2449 GLG1 0 genome.wustl.edu 37 16 74485958 74485958 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 74485958 74485958 G A SNP GLG1 ENST00000205061 human ensembl 74_37 -1 known missense c.3608 p.A1203V 0.553 NULL pfam_Cys-rich_GLG1_repeat - no_errors GLG1 HGNC ENSG00000090863 60 0 0 49 24 32.8767 ZNRF1 0 genome.wustl.edu 37 16 75140443 75140443 + RNA SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 75140443 75140443 G A SNP ZNRF1 ENST00000564320 human ensembl 74_37 +1 known rna NULL NULL 0.805 - - - no_errors ZNRF1 HGNC ENSG00000186187 113 0 0 94 14 12.963 MSLNL 0 genome.wustl.edu 37 16 830735 830735 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 830735 830735 G A SNP MSLNL ENST00000293892 human ensembl 74_37 -1 known missense c.266 p.T89I 0.001 NULL pfam_Mesothelin - no_errors MSLNL HGNC ENSG00000162006 234 0 0 232 26 10.0775 MLYCD 0 genome.wustl.edu 37 16 83945904 83945904 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 83945904 83945904 A G SNP MLYCD ENST00000262430 human ensembl 74_37 +1 known missense c.880 p.T294A 1.000 pfam_Malonyl_CoA_deC pfam_Malonyl_CoA_deC - no_errors MLYCD HGNC ENSG00000103150 47 0 0 42 12 22.2222 TAF1C 0 genome.wustl.edu 37 16 84216854 84216854 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 84216854 84216854 G A SNP TAF1C ENST00000378541 human ensembl 74_37 -1 known missense c.404 p.A135V 0.002 NULL superfamily_WD40_repeat_dom - no_errors TAF1C HGNC ENSG00000103168 68 0 0 75 20 21.0526 ADAD2 0 genome.wustl.edu 37 16 84229828 84229828 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 84229828 84229828 G A SNP ADAD2 ENST00000268624 human ensembl 74_37 +1 known missense c.1624 p.V542I 0.006 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADAD2 HGNC ENSG00000140955 111 0 0 81 21 20.5882 USP10 0 genome.wustl.edu 37 16 84778565 84778565 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 84778565 84778565 T C SNP USP10 ENST00000570191 human ensembl 74_37 +1 known missense c.490 p.Y164H 1.000 NULL pfam_Peptidase_C19/C67,pfam_Ataxin-2_C,pfscan_Peptidase_C19/C67 - no_errors USP10 HGNC ENSG00000103194 28 0 0 20 2 9.09091 ZDHHC7 0 genome.wustl.edu 37 16 85015579 85015579 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 85015579 85015579 C T SNP ZDHHC7 ENST00000344861 human ensembl 74_37 -1 known missense c.448 p.A150T 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC7 HGNC ENSG00000153786 94 0 0 97 17 14.9123 METTL22 0 genome.wustl.edu 37 16 8722948 8722948 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 8722948 8722948 G A SNP METTL22 ENST00000381920 human ensembl 74_37 +1 known silent c.495 p.P165 0.001 NULL pfam_Nicotinamide_N-MeTfrase-like - no_errors METTL22 HGNC ENSG00000067365 337 0 0 262 49 15.7556 CDH15 0 genome.wustl.edu 37 16 89251636 89251636 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 89251636 89251636 C T SNP CDH15 ENST00000289746 human ensembl 74_37 +1 known silent c.558 p.N186 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH15 HGNC ENSG00000129910 20 0 0 8 4 33.3333 SPIRE2 0 genome.wustl.edu 37 16 89936521 89936521 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 89936521 89936521 C T SNP SPIRE2 ENST00000378247 human ensembl 74_37 +1 known silent c.1986 p.G662 1.000 superfamily_Znf_FYVE_PHD superfamily_Znf_FYVE_PHD,smart_KIND - no_errors SPIRE2 HGNC ENSG00000204991 25 0 0 26 3 10.3448 GRIN2A 0 genome.wustl.edu 37 16 9857693 9857693 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 9857693 9857693 G A SNP GRIN2A ENST00000330684 human ensembl 74_37 -1 known silent c.3708 p.C1236 0.863 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 62 0 0 86 22 20.3704 MYH13 0 genome.wustl.edu 37 17 10209901 10209901 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 10209901 10209901 C T SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known missense c.5341 p.A1781T 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 91 0 0 55 14 20.2899 MYH3 0 genome.wustl.edu 37 17 10558338 10558338 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 10558338 10558338 G T SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known missense c.44 p.P15H 0.989 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 93 0 0 56 20 26.3158 MYO1C 0 genome.wustl.edu 37 17 1386275 1386275 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 1386275 1386275 G A SNP MYO1C ENST00000359786 human ensembl 74_37 -1 known silent c.426 p.S142 0.439 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1C HGNC ENSG00000197879 25 0 0 25 3 10.7143 TEKT3 0 genome.wustl.edu 37 17 15217458 15217458 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 15217458 15217458 C T SNP TEKT3 ENST00000338696 human ensembl 74_37 -1 known missense c.824 p.R275H 1.000 pfam_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT3 HGNC ENSG00000125409 69 0 0 63 13 17.1053 TVP23C 0 genome.wustl.edu 37 17 15441469 15441469 + Splice_Site SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 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 59 0 0 40 5 11.1111 PRPF8 0 genome.wustl.edu 37 17 1579927 1579927 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 1579927 1579927 C T SNP PRPF8 ENST00000304992 human ensembl 74_37 -1 known missense c.2260 p.A754T 1.000 pfam_PROCN pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_PRO8NT,pfam_Prp8_U5-snRNA-bd,pfam_PROCT,pfam_RRM_spliceosomal_PrP8,pfam_JAB_MPN_dom,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB_MPN_dom - no_errors PRPF8 HGNC ENSG00000174231 373 0 0 248 84 25.3012 NCOR1 0 genome.wustl.edu 37 17 16001755 16001755 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 16001755 16001755 C T SNP NCOR1 ENST00000268712 human ensembl 74_37 -1 known missense c.2746 p.V916I 0.927 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 42 0 0 35 9 20.4545 RAI1 0 genome.wustl.edu 37 17 17698232 17698232 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 17698232 17698232 C T SNP RAI1 ENST00000353383 human ensembl 74_37 +1 known missense c.1970 p.A657V 0.004 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 35 0 0 20 6 23.0769 SREBF1 0 genome.wustl.edu 37 17 17716744 17716744 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 17716744 17716744 G A SNP SREBF1 ENST00000355815 human ensembl 74_37 -1 known missense c.3242 p.T1081I 0.998 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SREBF1 HGNC ENSG00000072310 12 0 0 9 3 25 SREBF1 0 genome.wustl.edu 37 17 17722433 17722433 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 17722433 17722433 C T SNP SREBF1 ENST00000355815 human ensembl 74_37 -1 known missense c.1052 p.R351H 1.000 superfamily_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SREBF1 HGNC ENSG00000072310 55 0 0 34 14 29.1667 DRG2 0 genome.wustl.edu 37 17 18009790 18009790 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 18009790 18009790 C T SNP DRG2 ENST00000225729 human ensembl 74_37 +1 known missense c.998 p.A333V 1.000 pfam_TGS,superfamily_TGS-like pfam_TGS,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,superfamily_TGS-like,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom - no_errors DRG2 HGNC ENSG00000108591 87 0 0 48 14 22.5806 LLGL1 0 genome.wustl.edu 37 17 18141431 18141431 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 18141431 18141431 G A SNP LLGL1 ENST00000316843 human ensembl 74_37 +1 known missense c.1955 p.R652Q 0.901 superfamily_WD40_repeat_dom,prints_Lethal2_giant pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL1 HGNC ENSG00000131899 30 0 0 15 10 40 SPECC1 0 genome.wustl.edu 37 17 20135630 20135630 + Missense_Mutation SNP G G C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 20135630 20135630 G C SNP SPECC1 ENST00000261503 human ensembl 74_37 +1 known missense c.2263 p.E755Q 1.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1 HGNC ENSG00000128487 34 0 0 21 6 22.2222 SPECC1 0 genome.wustl.edu 37 17 20135631 20135631 + Missense_Mutation SNP A A T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 20135631 20135631 A T SNP SPECC1 ENST00000261503 human ensembl 74_37 +1 known missense c.2264 p.E755V 1.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1 HGNC ENSG00000128487 35 0 0 21 6 22.2222 LGALS9B 0 genome.wustl.edu 37 17 20361569 20361569 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 20361569 20361569 C A SNP LGALS9B ENST00000423676 human ensembl 74_37 -1 known missense c.260 p.R87M 0.982 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS9B HGNC ENSG00000170298 168 0 0 139 16 10.3226 KCNJ12 0 genome.wustl.edu 37 17 21319255 21319255 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 21319255 21319255 G A SNP KCNJ12 ENST00000331718 human ensembl 74_37 +1 known missense c.601 p.V201M 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 49 0 0 44 3 6.38298 SGSM2 0 genome.wustl.edu 37 17 2267458 2267458 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 2267458 2267458 G T SNP SGSM2 ENST00000268989 human ensembl 74_37 +1 known missense c.913 p.D305Y 1.000 NULL pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM2 HGNC ENSG00000141258 49 0 0 32 13 28.8889 ALDOC 0 genome.wustl.edu 37 17 26902486 26902486 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 26902486 26902486 C T SNP ALDOC ENST00000226253 human ensembl 74_37 -1 known missense c.65 p.R22Q 1.000 pfam_Aldolase_I pfam_Aldolase_I - no_errors ALDOC HGNC ENSG00000109107 79 0 0 65 21 24.4186 TLCD1 0 genome.wustl.edu 37 17 27051593 27051593 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 27051593 27051593 G T SNP TLCD1 ENST00000292090 human ensembl 74_37 -1 known missense c.679 p.R227S 1.000 pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom - no_errors TLCD1 HGNC ENSG00000160606 110 0 0 91 14 13.3333 TLCD1 0 genome.wustl.edu 37 17 27051685 27051685 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 27051685 27051685 C T SNP TLCD1 ENST00000292090 human ensembl 74_37 -1 known missense c.587 p.R196H 0.002 pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom - no_errors TLCD1 HGNC ENSG00000160606 44 0 0 53 16 23.1884 MYO1D 0 genome.wustl.edu 37 17 31048134 31048134 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 31048134 31048134 C T SNP MYO1D ENST00000318217 human ensembl 74_37 -1 known missense c.1820 p.R607Q 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1D HGNC ENSG00000176658 158 0 0 153 44 22.335 SLFN5 0 genome.wustl.edu 37 17 33588113 33588113 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 33588113 33588113 C T SNP SLFN5 ENST00000299977 human ensembl 74_37 +1 known missense c.1136 p.P379L 1.000 NULL pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN5 HGNC ENSG00000166750 92 0 0 99 24 19.5122 ACACA 0 genome.wustl.edu 37 17 35615203 35615203 + Missense_Mutation SNP A A C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 35615203 35615203 A C SNP ACACA ENST00000353139 human ensembl 74_37 -1 known missense c.1593 p.D531E 1.000 pfscan_Biotin_carboxylation_dom pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 65 0 0 57 15 20.8333 PNMT 0 genome.wustl.edu 37 17 37826226 37826226 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 37826226 37826226 C T SNP PNMT ENST00000269582 human ensembl 74_37 +1 known missense c.433 p.R145C 0.962 pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans - no_errors PNMT HGNC ENSG00000141744 50 0 0 52 10 16.129 ERBB2 0 genome.wustl.edu 37 17 37883212 37883212 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 37883212 37883212 G A SNP ERBB2 ENST00000269571 human ensembl 74_37 +1 known missense c.3115 p.A1039T 0.000 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 ERBB2 HGNC ENSG00000141736 93 0 0 86 28 24.5614 CASC3 0 genome.wustl.edu 37 17 38323817 38323817 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 38323817 38323817 G A SNP CASC3 ENST00000264645 human ensembl 74_37 +1 known missense c.1603 p.A535T 0.968 NULL pfam_Btz_dom - no_errors CASC3 HGNC ENSG00000108349 69 0 0 71 5 6.57895 KRT39 0 genome.wustl.edu 37 17 39122766 39122766 + Nonsense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 39122766 39122766 G A SNP KRT39 ENST00000355612 human ensembl 74_37 -1 known nonsense c.343 p.R115* 0.999 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT39 HGNC ENSG00000196859 101 1 0.980392 119 44 26.9939 KRTAP4-11 0 genome.wustl.edu 37 17 39274186 39274186 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 39274186 39274186 C T SNP KRTAP4-11 ENST00000391413 human ensembl 74_37 -1 known missense c.382 p.V128M 0.000 NULL pfam_Keratin-assoc - no_errors KRTAP4-11 HGNC ENSG00000212721 65 0 0 62 8 11.4286 KRTAP9-2 0 genome.wustl.edu 37 17 39383096 39383096 + Missense_Mutation SNP A A C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 39383096 39383096 A C SNP KRTAP9-2 ENST00000377721 human ensembl 74_37 +1 known missense c.190 p.T64P 0.006 NULL NULL - no_errors KRTAP9-2 HGNC ENSG00000239886 104 0 0 92 14 13.2075 KRT34 0 genome.wustl.edu 37 17 39535917 39535917 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 39535917 39535917 C T SNP KRT34 ENST00000394001 human ensembl 74_37 -1 known missense c.781 p.V261M 0.558 pfam_IF,superfamily_Prefoldin,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT34 HGNC ENSG00000131737 58 0 0 58 9 13.4328 KRT36 0 genome.wustl.edu 37 17 39645760 39645760 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 39645760 39645760 C T SNP KRT36 ENST00000328119 human ensembl 74_37 -1 known silent c.357 p.A119 0.019 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT36 HGNC ENSG00000126337 134 0 0 138 33 19.2982 KCNH4 0 genome.wustl.edu 37 17 40323977 40323977 + Silent SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 40323977 40323977 A G SNP KCNH4 ENST00000264661 human ensembl 74_37 -1 known silent c.1024 p.L342 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH4 HGNC ENSG00000089558 11 0 0 13 4 23.5294 CNTD1 0 genome.wustl.edu 37 17 40951065 40951065 + RNA SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 40951065 40951065 T C SNP CNTD1 ENST00000591559 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CNTD1 HGNC ENSG00000176563 19 0 0 20 4 16.6667 TMUB2 0 genome.wustl.edu 37 17 42268144 42268144 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 42268144 42268144 G A SNP TMUB2 ENST00000538716 human ensembl 74_37 +1 known missense c.878 p.R293H 1.000 NULL pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors TMUB2 HGNC ENSG00000168591 110 0 0 128 18 12.3288 ACBD4 0 genome.wustl.edu 37 17 43216487 43216487 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 43216487 43216487 G T SNP ACBD4 ENST00000431281 human ensembl 74_37 +1 known missense c.787 p.G263W 1.000 NULL pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein - no_errors ACBD4 HGNC ENSG00000181513 94 0 0 59 13 18.0556 TBX21 0 genome.wustl.edu 37 17 45822254 45822254 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 45822254 45822254 C T SNP TBX21 ENST00000177694 human ensembl 74_37 +1 known missense c.1130 p.A377V 0.999 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 TBX21 HGNC ENSG00000073861 111 0 0 109 15 12.0968 HOXB13 0 genome.wustl.edu 37 17 46804268 46804268 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 46804268 46804268 G A SNP HOXB13 ENST00000290295 human ensembl 74_37 -1 known missense c.739 p.R247C 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_HoxA13_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HOXB13 HGNC ENSG00000159184 115 0 0 96 24 20 HOXB13 0 genome.wustl.edu 37 17 46804341 46804341 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 46804341 46804341 C T SNP HOXB13 ENST00000290295 human ensembl 74_37 -1 known silent c.666 p.P222 0.138 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_HoxA13_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HOXB13 HGNC ENSG00000159184 87 0 0 80 15 15.7895 HOXB13 0 genome.wustl.edu 37 17 46804379 46804379 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 46804379 46804379 C T SNP HOXB13 ENST00000290295 human ensembl 74_37 -1 known missense c.628 p.A210T 0.983 superfamily_Homeodomain-like pfam_HoxA13_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HOXB13 HGNC ENSG00000159184 40 0 0 43 10 18.8679 IGF2BP1 0 genome.wustl.edu 37 17 47075064 47075064 + RNA SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 47075064 47075064 G A SNP IGF2BP1 ENST00000510023 human ensembl 74_37 +1 putative rna NULL NULL 0.003 - - - no_errors IGF2BP1 HGNC ENSG00000159217 32 0 0 38 5 11.6279 DLX3 0 genome.wustl.edu 37 17 48072046 48072046 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 48072046 48072046 T C SNP DLX3 ENST00000434704 human ensembl 74_37 -1 known missense c.317 p.Q106R 0.998 pfam_Distal-less_N,superfamily_Homeodomain-like pfam_Distal-less_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX3 HGNC ENSG00000064195 27 0 0 32 12 27.2727 CACNA1G 0 genome.wustl.edu 37 17 48703700 48703700 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 48703700 48703700 G A SNP CACNA1G ENST00000359106 human ensembl 74_37 +1 known missense c.6722 p.R2241Q 0.989 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 19 0 0 16 4 20 KIF2B 0 genome.wustl.edu 37 17 51901032 51901032 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 51901032 51901032 G A SNP KIF2B ENST00000268919 human ensembl 74_37 +1 known missense c.638 p.R213H 0.124 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 KIF2B HGNC ENSG00000141200 52 0 0 37 4 9.7561 NLRP1 0 genome.wustl.edu 37 17 5463094 5463094 + Nonsense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 5463094 5463094 G A SNP NLRP1 ENST00000572272 human ensembl 74_37 -1 known nonsense c.922 p.R308* 0.000 superfamily_P-loop_NTPase pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC ENSG00000091592 190 0 0 137 32 18.9349 METTL2A 0 genome.wustl.edu 37 17 60503712 60503712 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 60503712 60503712 C T SNP METTL2A ENST00000311506 human ensembl 74_37 +1 known silent c.255 p.H85 0.420 pirsf_MeTrfase pfam_Methyltransf_12,pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pirsf_MeTrfase - no_errors METTL2A HGNC ENSG00000087995 28 0 0 35 8 18.6047 ERN1 0 genome.wustl.edu 37 17 62144207 62144207 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 62144207 62144207 G A SNP ERN1 ENST00000433197 human ensembl 74_37 -1 known silent c.666 p.Y222 0.738 superfamily_Quinonprotein_ADH-like_supfam pfam_Prot_kinase_dom,pfam_KEN_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 ERN1 HGNC ENSG00000178607 21 0 0 23 7 23.3333 TEX2 0 genome.wustl.edu 37 17 62272398 62272398 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 62272398 62272398 G A SNP TEX2 ENST00000258991 human ensembl 74_37 -1 known missense c.1702 p.H568Y 1.000 NULL pfam_DUF2404 - no_errors TEX2 HGNC ENSG00000136478 38 0 0 38 10 20.8333 AXIN2 0 genome.wustl.edu 37 17 63533495 63533495 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 63533495 63533495 C T SNP AXIN2 ENST00000307078 human ensembl 74_37 -1 known silent c.1659 p.S553 0.001 NULL pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN2 HGNC ENSG00000168646 64 0 0 57 7 10.9375 PITPNM3 0 genome.wustl.edu 37 17 6367630 6367630 + Missense_Mutation SNP G G C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 6367630 6367630 G C SNP PITPNM3 ENST00000262483 human ensembl 74_37 -1 known missense c.2016 p.I672M 1.000 NULL pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD - no_errors PITPNM3 HGNC ENSG00000091622 68 0 0 28 14 33.3333 KIAA0753 0 genome.wustl.edu 37 17 6511778 6511778 + Silent SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 6511778 6511778 T C SNP KIAA0753 ENST00000361413 human ensembl 74_37 -1 known silent c.1719 p.A573 0.020 NULL NULL - no_errors KIAA0753 HGNC ENSG00000198920 168 0 0 153 42 21.5385 ABCA9 0 genome.wustl.edu 37 17 66982324 66982324 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 66982324 66982324 C T SNP ABCA9 ENST00000340001 human ensembl 74_37 -1 known missense c.4189 p.A1397T 0.007 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 ABCA9 HGNC ENSG00000154258 148 0 0 129 28 17.8344 BCL6B 0 genome.wustl.edu 37 17 6927843 6927843 + Silent SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 6927843 6927843 A G SNP BCL6B ENST00000293805 human ensembl 74_37 +1 known silent c.525 p.R175 0.997 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors BCL6B HGNC ENSG00000161940 153 0 0 82 35 29.9145 ASGR1 0 genome.wustl.edu 37 17 7077301 7077301 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 7077301 7077301 G A SNP ASGR1 ENST00000269299 human ensembl 74_37 -1 known missense c.680 p.T227M 0.964 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_Lectin_N,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors ASGR1 HGNC ENSG00000141505 102 0 0 55 22 28.5714 EIF5A 0 genome.wustl.edu 37 17 7212946 7212946 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 7212946 7212946 C T SNP EIF5A ENST00000336452 human ensembl 74_37 +1 known missense c.82 p.P28S 1.000 NULL pfam_Transl_elong_IF5A_C,pfam_KOW,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A - no_errors EIF5A HGNC ENSG00000132507 116 0 0 93 11 10.5769 SLC9A3R1 0 genome.wustl.edu 37 17 72764648 72764648 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 72764648 72764648 G A SNP SLC9A3R1 ENST00000262613 human ensembl 74_37 +1 known silent c.930 p.A310 0.006 pirsf_NaH_exchngr_reg_CF_NHE-RF pfam_PDZ,pfam_EBP50_C-term,superfamily_PDZ,smart_PDZ,pirsf_NaH_exchngr_reg_CF_NHE-RF,pfscan_PDZ - no_errors SLC9A3R1 HGNC ENSG00000109062 199 0 0 153 51 25 TMEM104 0 genome.wustl.edu 37 17 72787133 72787133 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 72787133 72787133 C T SNP TMEM104 ENST00000335464 human ensembl 74_37 +1 known missense c.385 p.R129W 1.000 NULL pfam_AA_transpt_TM - no_errors TMEM104 HGNC ENSG00000109066 50 0 0 61 19 23.75 OTOP2 0 genome.wustl.edu 37 17 72926469 72926469 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 72926469 72926469 A G SNP OTOP2 ENST00000331427 human ensembl 74_37 +1 known missense c.739 p.N247D 1.000 pfam_Otopetrin pfam_Otopetrin - no_errors OTOP2 HGNC ENSG00000183034 322 0 0 376 45 10.6888 HID1 0 genome.wustl.edu 37 17 72956336 72956336 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 72956336 72956336 G A SNP HID1 ENST00000425042 human ensembl 74_37 -1 known silent c.736 p.L246 1.000 NULL pfam_Dymeclin - no_errors HID1 HGNC ENSG00000167861 26 0 0 32 13 28.8889 KCTD2 0 genome.wustl.edu 37 17 73059134 73059134 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 73059134 73059134 C T SNP KCTD2 ENST00000322444 human ensembl 74_37 +1 known missense c.784 p.R262W 0.993 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD2 HGNC ENSG00000180901 44 0 0 55 11 16.6667 GGA3 0 genome.wustl.edu 37 17 73238457 73238457 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 73238457 73238457 C T SNP GGA3 ENST00000245541 human ensembl 74_37 -1 known missense c.707 p.S236N 0.991 pfam_GAT,pfscan_GAT pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA3 HGNC ENSG00000125447 198 0 0 181 73 28.7402 ZBTB4 0 genome.wustl.edu 37 17 7369702 7369702 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 7369702 7369702 A G SNP ZBTB4 ENST00000311403 human ensembl 74_37 -1 known missense c.419 p.L140P 1.000 superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB4 HGNC ENSG00000174282 21 0 0 17 3 15 UNK 0 genome.wustl.edu 37 17 73808347 73808347 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 73808347 73808347 C T SNP UNK ENST00000293218 human ensembl 74_37 +1 known missense c.697 p.R233C 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors UNK HGNC ENSG00000132478 117 0 0 110 39 26.1745 EVPL 0 genome.wustl.edu 37 17 74004016 74004016 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 74004016 74004016 C T SNP EVPL ENST00000301607 human ensembl 74_37 -1 known missense c.5270 p.R1757H 1.000 smart_Plectin_repeat pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 36 0 0 51 8 13.5593 EVPL 0 genome.wustl.edu 37 17 74004807 74004807 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 74004807 74004807 G A SNP EVPL ENST00000301607 human ensembl 74_37 -1 known silent c.4479 p.T1493 0.004 NULL pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 97 0 0 108 21 16.2791 EVPL 0 genome.wustl.edu 37 17 74005247 74005247 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 74005247 74005247 C T SNP EVPL ENST00000301607 human ensembl 74_37 -1 known missense c.4039 p.A1347T 0.000 NULL pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 48 0 0 51 27 34.6154 MGAT5B 0 genome.wustl.edu 37 17 74865078 74865078 + RNA SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 74865078 74865078 C T SNP MGAT5B ENST00000374998 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MGAT5B HGNC ENSG00000167889 45 0 0 44 7 13.7255 TP53 0 genome.wustl.edu 37 17 7578555 7578555 + Splice_Site SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 7578555 7578555 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known splice_site c.376-1 e4-1 1.000 - - - no_errors TP53 HGNC ENSG00000141510 31 0 0 19 3 13.6364 DNAH17 0 genome.wustl.edu 37 17 76446422 76446422 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 76446422 76446422 G A SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known missense c.10912 p.R3638C 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 28 0 0 27 10 27.027 DNAH17 0 genome.wustl.edu 37 17 76456287 76456287 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 76456287 76456287 G A SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known missense c.9350 p.P3117L 0.997 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 12 0 0 11 3 21.4286 DNAH17 0 genome.wustl.edu 37 17 76533563 76533563 + Missense_Mutation SNP C C G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 76533563 76533563 C G SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known missense c.2677 p.E893Q 0.990 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 42 0 0 40 4 9.09091 CHD3 0 genome.wustl.edu 37 17 7805989 7805989 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 7805989 7805989 G A SNP CHD3 ENST00000330494 human ensembl 74_37 +1 known missense c.3314 p.R1105H 1.000 pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 100 1 0.990099 63 27 30 GAA 0 genome.wustl.edu 37 17 78082611 78082611 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 78082611 78082611 G A SNP GAA ENST00000302262 human ensembl 74_37 +1 known missense c.1310 p.R437H 0.872 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors GAA HGNC ENSG00000171298 10 0 0 4 4 50 RNF213 0 genome.wustl.edu 37 17 78363971 78363971 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 78363971 78363971 G A SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.15445 p.E5149K 0.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 95 0 0 98 15 13.2743 ENDOV 0 genome.wustl.edu 37 17 78403704 78403704 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 78403704 78403704 C T SNP ENDOV ENST00000323854 human ensembl 74_37 +1 known missense c.776 p.A259V 0.000 NULL pfam_Endonuclease-V - no_errors ENDOV HGNC ENSG00000173818 14 0 0 8 3 27.2727 NPLOC4 0 genome.wustl.edu 37 17 79564302 79564302 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 79564302 79564302 C T SNP NPLOC4 ENST00000374747 human ensembl 74_37 -1 known missense c.962 p.R321Q 1.000 pfam_NPL4,pirsf_PolyUb_recognition_cplx_Npl4 pfam_NPL4,pfam_NPL4_Zn-bd_put,pfam_Npl4_Ub-like_dom,pirsf_PolyUb_recognition_cplx_Npl4 - no_errors NPLOC4 HGNC ENSG00000182446 52 0 0 61 24 28.2353 ALOX12B 0 genome.wustl.edu 37 17 7978994 7978994 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 7978994 7978994 C T SNP ALOX12B ENST00000319144 human ensembl 74_37 -1 known missense c.1573 p.A525T 0.573 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_C,prints_LipOase_mml - no_errors ALOX12B HGNC ENSG00000179477 305 0 0 199 57 22.2656 PCYT2 0 genome.wustl.edu 37 17 79866891 79866891 + Silent SNP C C G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 79866891 79866891 C G SNP PCYT2 ENST00000538721 human ensembl 74_37 -1 known silent c.201 p.G67 1.000 pfam_Cyt_trans-like,tigrfam_Cyt_trans-like pfam_Cyt_trans-like,tigrfam_Cyt_trans-like - no_errors PCYT2 HGNC ENSG00000185813 61 0 0 77 7 8.33333 NOTUM 0 genome.wustl.edu 37 17 79913388 79913388 + Nonsense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 79913388 79913388 C A SNP NOTUM ENST00000409678 human ensembl 74_37 -1 known nonsense c.1021 p.E341* 0.997 pfam_NOTUM pfam_NOTUM - no_errors NOTUM HGNC ENSG00000185269 41 0 0 44 7 13.7255 HEXDC 0 genome.wustl.edu 37 17 80393683 80393683 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 80393683 80393683 G A SNP HEXDC ENST00000337014 human ensembl 74_37 +1 known missense c.566 p.R189H 0.562 pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF - no_errors HEXDC HGNC ENSG00000169660 111 0 0 121 25 17.1233 HEXDC 0 genome.wustl.edu 37 17 80399708 80399708 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 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 206 0 0 178 76 29.9213 WDR45B 0 genome.wustl.edu 37 17 80606149 80606149 + Splice_Site SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 80606149 80606149 C T SNP WDR45B ENST00000392325 human ensembl 74_37 -1 known splice_site c.67+1 e1+1 1.000 - - - no_errors WDR45B HGNC ENSG00000141580 24 0 0 44 9 16.9811 ZNF750 0 genome.wustl.edu 37 17 80788991 80788991 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 80788991 80788991 G A SNP ZNF750 ENST00000269394 human ensembl 74_37 -1 known missense c.1340 p.P447L 0.000 NULL NULL - no_errors ZNF750 HGNC ENSG00000141579 51 0 0 69 33 32.3529 SLC25A35 0 genome.wustl.edu 37 17 8192959 8192959 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 8192959 8192959 G T SNP SLC25A35 ENST00000380067 human ensembl 74_37 -1 known missense c.863 p.P288Q 0.000 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A35 HGNC ENSG00000125434 47 0 0 40 11 21.5686 GAS7 0 genome.wustl.edu 37 17 9837547 9837547 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 9837547 9837547 G A SNP GAS7 ENST00000432992 human ensembl 74_37 -1 known missense c.821 p.A274V 0.978 pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom pfam_FCH_dom,pfam_WW_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_WW_dom,smart_SH3_domain,smart_WW_dom,smart_FCH_dom,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_WW_dom - no_errors GAS7 HGNC ENSG00000007237 12 0 0 5 4 44.4444 GNAL 0 genome.wustl.edu 37 18 11872328 11872328 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 18 11872328 11872328 G A SNP GNAL ENST00000334049 human ensembl 74_37 +1 known missense c.1093 p.V365I 1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_S - no_errors GNAL HGNC ENSG00000141404 74 0 0 72 15 17.2414 CEP192 0 genome.wustl.edu 37 18 13067918 13067918 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 18 13067918 13067918 C T SNP CEP192 ENST00000506447 human ensembl 74_37 +1 known missense c.4577 p.T1526M 1.000 NULL NULL - no_errors CEP192 HGNC ENSG00000101639 72 0 0 72 8 10 ANKRD20A5P 0 genome.wustl.edu 37 18 14179529 14179529 + RNA SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 18 14179529 14179529 G A SNP ANKRD20A5P ENST00000581181 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors ANKRD20A5P HGNC ENSG00000186481 15 0 0 19 10 34.4828 SETBP1 0 genome.wustl.edu 37 18 42532870 42532870 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 18 42532870 42532870 C T SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known missense c.3565 p.R1189W 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 64 0 0 50 8 13.7931 SETBP1 0 genome.wustl.edu 37 18 42618454 42618454 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 18 42618454 42618454 G T SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known missense c.4005 p.M1335I 0.997 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 50 0 0 35 9 20.4545 PIAS2 0 genome.wustl.edu 37 18 44392503 44392503 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 18 44392503 44392503 T C SNP PIAS2 ENST00000585916 human ensembl 74_37 -1 known missense c.1759 p.S587G 1.000 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS2 HGNC ENSG00000078043 79 0 0 59 14 19.1781 MAPK4 0 genome.wustl.edu 37 18 48190761 48190761 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 18 48190761 48190761 G A SNP MAPK4 ENST00000400384 human ensembl 74_37 +1 known missense c.433 p.V145M 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK3/4 - no_errors MAPK4 HGNC ENSG00000141639 79 0 0 58 12 17.1429 ENSG00000173213 0 genome.wustl.edu 37 18 49538 49538 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 18 49538 49538 G A SNP ENSG00000173213 ENST00000308911 human ensembl 74_37 -1 known missense c.20 p.T7M 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors RP11-683L23.1 Clone_based_vega_gene ENSG00000173213 9 0 0 5 4 44.4444 ZBTB14 0 genome.wustl.edu 37 18 5291431 5291431 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 18 5291431 5291431 G A SNP ZBTB14 ENST00000357006 human ensembl 74_37 -1 known missense c.776 p.A259V 0.932 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 ZBTB14 HGNC ENSG00000198081 78 0 0 59 15 20.2703 ENSG00000267462 0 genome.wustl.edu 37 18 57678252 57678252 + RNA SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 18 57678252 57678252 C T SNP ENSG00000267462 ENST00000585691 human ensembl 74_37 +1 known rna NULL NULL 0.557 - - - no_errors RP11-866E20.3 Clone_based_vega_gene ENSG00000267462 30 0 0 22 8 26.6667 MBP 0 genome.wustl.edu 37 18 74700413 74700413 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 18 74700413 74700413 C T SNP MBP ENST00000397869 human ensembl 74_37 -1 novel missense c.389 p.R130H 0.079 pfam_Myelin_BP pfam_Myelin_BP,prints_Myelin_BP - no_errors MBP HGNC ENSG00000197971 87 0 0 55 10 15.3846 PTPRM 0 genome.wustl.edu 37 18 7955127 7955127 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 18 7955127 7955127 G A SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known missense c.847 p.V283I 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC ENSG00000173482 53 0 0 48 10 17.2414 PTPRM 0 genome.wustl.edu 37 18 8253339 8253339 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 18 8253339 8253339 G T SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known missense c.2684 p.R895L 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC ENSG00000173482 26 0 0 25 4 13.7931 SOGA2 0 genome.wustl.edu 37 18 8813022 8813022 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 18 8813022 8813022 G A SNP SOGA2 ENST00000359865 human ensembl 74_37 +1 known missense c.2650 p.A884T 0.000 NULL pfam_SOGA - no_errors SOGA2 HGNC ENSG00000168502 37 0 0 33 7 17.5 COL5A3 0 genome.wustl.edu 37 19 10088271 10088271 + Missense_Mutation SNP C C G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 10088271 10088271 C G SNP COL5A3 ENST00000264828 human ensembl 74_37 -1 known missense c.3125 p.R1042P 0.997 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 11 0 0 11 9 45 KRI1 0 genome.wustl.edu 37 19 10670506 10670506 + Nonsense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 10670506 10670506 C A SNP KRI1 ENST00000312962 human ensembl 74_37 -1 known nonsense c.925 p.E309* 1.000 NULL pfam_KRR1-interact_protein_1 - no_errors KRI1 HGNC ENSG00000129347 39 0 0 35 3 7.89474 SMARCA4 0 genome.wustl.edu 37 19 11118655 11118655 + Silent SNP A A C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 11118655 11118655 A C SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known silent c.2079 p.P693 0.987 superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 26 0 0 19 6 24 LDLR 0 genome.wustl.edu 37 19 11224068 11224068 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 11224068 11224068 C T SNP LDLR ENST00000558518 human ensembl 74_37 +1 known missense c.1301 p.T434M 0.845 superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt 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_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LDLR HGNC ENSG00000130164 66 0 0 53 11 17.1875 KANK2 0 genome.wustl.edu 37 19 11304103 11304103 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 11304103 11304103 A G SNP KANK2 ENST00000432929 human ensembl 74_37 -1 known missense c.653 p.V218A 1.000 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK2 HGNC ENSG00000197256 27 0 0 39 4 9.30233 ELAVL3 0 genome.wustl.edu 37 19 11565617 11565617 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 11565617 11565617 C T SNP ELAVL3 ENST00000359227 human ensembl 74_37 -1 known silent c.828 p.S276 0.513 tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL3 HGNC ENSG00000196361 76 0 0 60 10 14.2857 ZNF653 0 genome.wustl.edu 37 19 11598654 11598654 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 11598654 11598654 C A SNP ZNF653 ENST00000293771 human ensembl 74_37 -1 known missense c.624 p.E208D 0.999 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF653 HGNC ENSG00000161914 22 0 0 25 7 21.875 ECSIT 0 genome.wustl.edu 37 19 11624896 11624896 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 11624896 11624896 C T SNP ECSIT ENST00000270517 human ensembl 74_37 -1 known silent c.237 p.A79 0.000 pfam_ECSIT pfam_ECSIT - no_errors ECSIT HGNC ENSG00000130159 42 0 0 45 17 27.4194 MAST1 0 genome.wustl.edu 37 19 12985201 12985201 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 12985201 12985201 G A SNP MAST1 ENST00000251472 human ensembl 74_37 +1 known silent c.4230 p.A1410 0.033 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST1 HGNC ENSG00000105613 41 0 0 35 9 20.4545 RAD23A 0 genome.wustl.edu 37 19 13063555 13063555 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 13063555 13063555 G T SNP RAD23A ENST00000586534 human ensembl 74_37 +1 known missense c.866 p.G289V 0.998 superfamily_XPC-bd,tigrfam_Rad23 pfam_XPC-bd,pfam_UBA/Ts_N,pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,superfamily_XPC-bd,superfamily_UBA-like,smart_Ubiquitin_dom,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,prints_Rad23,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup,tigrfam_Rad23 - no_errors RAD23A HGNC ENSG00000179262 57 0 0 57 5 8.06452 CC2D1A 0 genome.wustl.edu 37 19 14037633 14037633 + Splice_Site SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 14037633 14037633 G T SNP CC2D1A ENST00000318003 human ensembl 74_37 +1 known splice_site c.2074-1 e20-1 1.000 - - - no_errors CC2D1A HGNC ENSG00000132024 40 0 0 36 9 20 PKN1 0 genome.wustl.edu 37 19 14581060 14581060 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 14581060 14581060 G A SNP PKN1 ENST00000342216 human ensembl 74_37 +1 known silent c.2397 p.T799 0.029 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_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN1 HGNC ENSG00000123143 44 0 0 56 7 11.1111 OR10H1 0 genome.wustl.edu 37 19 15918418 15918418 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 15918418 15918418 G T SNP OR10H1 ENST00000334920 human ensembl 74_37 -1 known missense c.430 p.L144M 0.977 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 OR10H1 HGNC ENSG00000186723 48 0 0 52 7 11.8644 ANKLE1 0 genome.wustl.edu 37 19 17394394 17394394 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 17394394 17394394 G A SNP ANKLE1 ENST00000394458 human ensembl 74_37 +1 known missense c.821 p.R274H 0.000 superfamily_Lactate_DH/Glyco_Ohase_4_C pfam_Ankyrin_rpt,pfam_LEM_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_LEM/LEM-like_dom,superfamily_Lactate_DH/Glyco_Ohase_4_C,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_LEM_dom - no_errors ANKLE1 HGNC ENSG00000160117 45 0 0 41 8 16.3265 UNC13A 0 genome.wustl.edu 37 19 17780379 17780379 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 17780379 17780379 C T SNP UNC13A ENST00000428389 human ensembl 74_37 -1 known missense c.641 p.R214H 1.000 superfamily_C2_dom pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 33 0 0 31 5 13.8889 MAP1S 0 genome.wustl.edu 37 19 17838443 17838443 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 17838443 17838443 G A SNP MAP1S ENST00000324096 human ensembl 74_37 +1 known silent c.2250 p.A750 0.000 NULL NULL - no_errors MAP1S HGNC ENSG00000130479 22 0 0 18 7 28 MAST3 0 genome.wustl.edu 37 19 18256012 18256012 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 18256012 18256012 C T SNP MAST3 ENST00000262811 human ensembl 74_37 +1 known silent c.2925 p.D975 0.999 superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST3 HGNC ENSG00000099308 189 1 0.526316 147 54 26.8657 REXO1 0 genome.wustl.edu 37 19 1828274 1828274 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 1828274 1828274 C T SNP REXO1 ENST00000170168 human ensembl 74_37 -1 known missense c.514 p.A172T 0.000 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO1 HGNC ENSG00000079313 8 0 0 15 6 28.5714 PDE4C 0 genome.wustl.edu 37 19 18331973 18331973 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 18331973 18331973 G A SNP PDE4C ENST00000355502 human ensembl 74_37 -1 known missense c.487 p.R163W 0.996 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4C HGNC ENSG00000105650 29 0 0 23 5 17.8571 LRRC25 0 genome.wustl.edu 37 19 18502805 18502805 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 18502805 18502805 C T SNP LRRC25 ENST00000339007 human ensembl 74_37 -1 known missense c.910 p.G304R 0.000 NULL NULL - no_errors LRRC25 HGNC ENSG00000175489 12 0 0 16 6 27.2727 ABHD17A 0 genome.wustl.edu 37 19 1880973 1880973 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 1880973 1880973 G A SNP ABHD17A ENST00000250974 human ensembl 74_37 -1 known missense c.407 p.A136V 0.000 NULL pfam_Dienelactn_hydro - no_errors ABHD17A HGNC ENSG00000129968 48 0 0 30 11 26.8293 TSSK6 0 genome.wustl.edu 37 19 19625901 19625901 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 19625901 19625901 C T SNP TSSK6 ENST00000360913 human ensembl 74_37 -1 known silent c.336 p.A112 0.995 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TSSK6 HGNC ENSG00000178093 42 0 0 49 14 22.2222 SPPL2B 0 genome.wustl.edu 37 19 2345252 2345252 + RNA SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 2345252 2345252 G A SNP SPPL2B ENST00000452401 human ensembl 74_37 +1 known rna NULL NULL 0.994 - - - no_errors SPPL2B HGNC ENSG00000005206 41 0 0 45 11 19.6429 SLC39A3 0 genome.wustl.edu 37 19 2733324 2733324 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 2733324 2733324 C T SNP SLC39A3 ENST00000269740 human ensembl 74_37 -1 known missense c.370 p.G124R 0.998 pfam_ZIP pfam_ZIP - no_errors SLC39A3 HGNC ENSG00000141873 66 0 0 62 15 19.4805 ZNF556 0 genome.wustl.edu 37 19 2877955 2877955 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 2877955 2877955 C T SNP ZNF556 ENST00000307635 human ensembl 74_37 +1 known silent c.999 p.H333 0.003 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 ZNF556 HGNC ENSG00000172000 31 0 0 30 5 14.2857 TLE6 0 genome.wustl.edu 37 19 2989174 2989174 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 2989174 2989174 G T SNP TLE6 ENST00000246112 human ensembl 74_37 +1 known missense c.856 p.G286W 0.998 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE6 HGNC ENSG00000104953 46 0 0 35 4 10.2564 ZNF536 0 genome.wustl.edu 37 19 30935293 30935293 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 30935293 30935293 G A SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known missense c.824 p.R275H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 19 0 0 7 5 41.6667 TSHZ3 0 genome.wustl.edu 37 19 31770656 31770656 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 31770656 31770656 A G SNP TSHZ3 ENST00000240587 human ensembl 74_37 -1 known missense c.43 p.Y15H 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 37 0 0 31 3 8.82353 GRAMD1A 0 genome.wustl.edu 37 19 35504571 35504571 + Silent SNP A A C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 35504571 35504571 A C SNP GRAMD1A ENST00000317991 human ensembl 74_37 +1 known silent c.846 p.R282 0.942 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1A HGNC ENSG00000089351 58 0 0 49 9 15.5172 TBXA2R 0 genome.wustl.edu 37 19 3600260 3600260 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 3600260 3600260 C T SNP TBXA2R ENST00000411851 human ensembl 74_37 -1 known missense c.373 p.A125T 0.990 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thbox_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn - no_errors TBXA2R HGNC ENSG00000006638 30 0 0 18 4 18.1818 COX6B1 0 genome.wustl.edu 37 19 36149497 36149497 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 36149497 36149497 T C SNP COX6B1 ENST00000246554 human ensembl 74_37 +1 known missense c.209 p.V70A 0.992 pfam_Cyt_c_oxidase_su6B,superfamily_Cyt_c_oxidase_su6B,pirsf_Cyt_c_oxidase_su6B pfam_Cyt_c_oxidase_su6B,superfamily_Cyt_c_oxidase_su6B,pirsf_Cyt_c_oxidase_su6B - no_errors COX6B1 HGNC ENSG00000126267 69 0 0 53 13 19.697 U2AF1L4 0 genome.wustl.edu 37 19 36234928 36234928 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 36234928 36234928 C T SNP U2AF1L4 ENST00000412391 human ensembl 74_37 -1 known missense c.467 p.R156H 0.986 pfam_Znf_CCCH,smart_Znf_CCCH pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,prints_U2_small,pfscan_RRM_dom - no_errors U2AF1L4 HGNC ENSG00000161265 92 0 0 79 26 24.7619 SPINT2 0 genome.wustl.edu 37 19 38782560 38782560 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 38782560 38782560 C T SNP SPINT2 ENST00000301244 human ensembl 74_37 +1 known missense c.673 p.R225W 0.332 NULL pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors SPINT2 HGNC ENSG00000167642 25 0 0 17 6 26.087 RYR1 0 genome.wustl.edu 37 19 38937165 38937165 + Missense_Mutation SNP T T G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 38937165 38937165 T G SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.685 p.C229G 1.000 pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 61 0 0 81 12 12.9032 FBL 0 genome.wustl.edu 37 19 40331067 40331067 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 40331067 40331067 C T SNP FBL ENST00000221801 human ensembl 74_37 -1 known silent c.270 p.P90 0.723 pfam_Fibrillarin,pirsf_Fibrillarin pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin - no_errors FBL HGNC ENSG00000105202 283 1 0.352113 259 57 18.038 PIAS4 0 genome.wustl.edu 37 19 4037624 4037624 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 4037624 4037624 C T SNP PIAS4 ENST00000262971 human ensembl 74_37 +1 known silent c.1284 p.D428 0.051 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS4 HGNC ENSG00000105229 46 0 0 41 9 18 ZNF780B 0 genome.wustl.edu 37 19 40541351 40541351 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 40541351 40541351 G A SNP ZNF780B ENST00000434248 human ensembl 74_37 -1 known missense c.1415 p.P472L 0.978 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 ZNF780B HGNC ENSG00000128000 84 0 0 94 24 20.339 C19orf47 0 genome.wustl.edu 37 19 40829912 40829912 + Splice_Site SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 40829912 40829912 C A SNP C19orf47 ENST00000582783 human ensembl 74_37 -1 known splice_site c.774+1 e8+1 1.000 - - - no_errors C19orf47 HGNC ENSG00000160392 166 0 0 126 18 12.5 HIPK4 0 genome.wustl.edu 37 19 40889748 40889748 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 40889748 40889748 G T SNP HIPK4 ENST00000291823 human ensembl 74_37 -1 known missense c.764 p.P255H 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HIPK4 HGNC ENSG00000160396 61 0 0 60 12 16.6667 CYP2A6 0 genome.wustl.edu 37 19 41356252 41356252 + Missense_Mutation SNP C C G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 41356252 41356252 C G SNP CYP2A6 ENST00000301141 human ensembl 74_37 -1 known missense c.80 p.R27T 0.016 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP2A6 HGNC ENSG00000255974 87 0 0 78 16 17.0213 CCDC97 0 genome.wustl.edu 37 19 41822684 41822684 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 41822684 41822684 C A SNP CCDC97 ENST00000269967 human ensembl 74_37 +1 known missense c.442 p.R148S 0.936 NULL pfam_DUF2052_coiled-coil - no_errors CCDC97 HGNC ENSG00000142039 52 0 0 40 9 18.3673 FSD1 0 genome.wustl.edu 37 19 4323385 4323385 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 4323385 4323385 G A SNP FSD1 ENST00000597590 human ensembl 74_37 +1 novel missense c.1241 p.C414Y 0.998 pfscan_B30.2/SPRY pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,smart_Bbox_C,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors FSD1 HGNC ENSG00000105255 42 0 0 39 6 13.3333 ZNF230 0 genome.wustl.edu 37 19 44513052 44513052 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 44513052 44513052 G A SNP ZNF230 ENST00000429154 human ensembl 74_37 +1 known silent c.126 p.T42 0.944 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF230 HGNC ENSG00000159882 135 0 0 127 25 16.4474 CLPTM1 0 genome.wustl.edu 37 19 45480718 45480718 + Splice_Site SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 45480718 45480718 G T SNP CLPTM1 ENST00000337392 human ensembl 74_37 +1 known splice_site c.586+1 e5+1 1.000 - - - no_errors CLPTM1 HGNC ENSG00000104853 85 0 0 81 18 18.1818 CLASRP 0 genome.wustl.edu 37 19 45570838 45570838 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 45570838 45570838 C T SNP CLASRP ENST00000221455 human ensembl 74_37 +1 known silent c.1653 p.G551 1.000 NULL pfam_SWAP_N_domain - no_errors CLASRP HGNC ENSG00000104859 13 0 0 23 8 25.8065 CD3EAP 0 genome.wustl.edu 37 19 45912137 45912137 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 45912137 45912137 G T SNP CD3EAP ENST00000589804 human ensembl 74_37 +1 known missense c.917 p.G306V 0.001 NULL pfam_DNA-dir_RNA_pol1_su_RPA34 - no_errors CD3EAP HGNC ENSG00000117877 104 0 0 123 19 13.3803 EML2 0 genome.wustl.edu 37 19 46133284 46133284 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 46133284 46133284 A G SNP EML2 ENST00000586195 human ensembl 74_37 -1 known missense c.251 p.V84A 1.000 NULL NULL - no_errors EML2 HGNC ENSG00000125746 54 0 0 54 9 14.2857 GIPR 0 genome.wustl.edu 37 19 46177354 46177354 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 46177354 46177354 G A SNP GIPR ENST00000590918 human ensembl 74_37 +1 known missense c.407 p.R136Q 1.000 pfam_GPCR_2_secretin-like,prints_GPCR_2_GIP_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_GIP_rcpt,prints_GPCR_2_secretin-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors GIPR HGNC ENSG00000010310 179 0 0 189 30 13.6986 FOXA3 0 genome.wustl.edu 37 19 46376132 46376132 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 46376132 46376132 G A SNP FOXA3 ENST00000302177 human ensembl 74_37 +1 known missense c.869 p.G290E 0.993 NULL pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA3 HGNC ENSG00000170608 39 0 0 34 8 19.0476 PGLYRP1 0 genome.wustl.edu 37 19 46522823 46522823 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 46522823 46522823 G T SNP PGLYRP1 ENST00000008938 human ensembl 74_37 -1 known missense c.370 p.P124T 0.022 pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain,pirsf_Peptidoglycan_recognition pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain,pirsf_Peptidoglycan_recognition - no_errors PGLYRP1 HGNC ENSG00000008438 58 0 0 39 17 30.3571 PRKD2 0 genome.wustl.edu 37 19 47204366 47204366 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 47204366 47204366 C A SNP PRKD2 ENST00000291281 human ensembl 74_37 -1 known missense c.893 p.C298F 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_DAG/PE-bd pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD2 HGNC ENSG00000105287 30 0 0 44 3 6.38298 ARHGAP35 0 genome.wustl.edu 37 19 47423229 47423229 + Nonsense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 47423229 47423229 C T SNP ARHGAP35 ENST00000404338 human ensembl 74_37 +1 known nonsense c.1297 p.R433* 0.723 superfamily_FF_domain,smart_FF_domain pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ENSG00000160007 64 0 0 50 16 24.2424 ARHGAP35 0 genome.wustl.edu 37 19 47503931 47503931 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 47503931 47503931 G A SNP ARHGAP35 ENST00000404338 human ensembl 74_37 +1 known missense c.4486 p.E1496K 0.230 NULL pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ENSG00000160007 14 0 0 10 4 28.5714 DHX34 0 genome.wustl.edu 37 19 47883179 47883179 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 47883179 47883179 G A SNP DHX34 ENST00000328771 human ensembl 74_37 +1 known silent c.2919 p.T973 0.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX34 HGNC ENSG00000134815 54 0 0 37 7 15.9091 CGB7 0 genome.wustl.edu 37 19 49557610 49557610 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 49557610 49557610 G A SNP CGB7 ENST00000377280 human ensembl 74_37 -1 known missense c.436 p.P146S 0.000 NULL pfam_Cys_knot,smart_Gonadotropin_bsu - no_errors CGB7 HGNC ENSG00000196337 66 0 0 78 17 17.8947 PRR12 0 genome.wustl.edu 37 19 50128211 50128211 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 50128211 50128211 G A SNP PRR12 ENST00000418929 human ensembl 74_37 +1 novel silent c.5832 p.T1944 0.123 NULL NULL - no_errors PRR12 HGNC ENSG00000126464 50 0 0 49 21 30 MYBPC2 0 genome.wustl.edu 37 19 50961933 50961933 + Nonsense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 50961933 50961933 C T SNP MYBPC2 ENST00000357701 human ensembl 74_37 +1 known nonsense c.2428 p.R810* 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC2 HGNC ENSG00000086967 48 0 0 34 19 35.8491 KLK15 0 genome.wustl.edu 37 19 51330155 51330155 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 51330155 51330155 C T SNP KLK15 ENST00000598239 human ensembl 74_37 -1 known missense c.460 p.A154T 0.003 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK15 HGNC ENSG00000174562 25 0 0 29 7 19.4444 KLK5 0 genome.wustl.edu 37 19 51455908 51455908 + Silent SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 51455908 51455908 A G SNP KLK5 ENST00000336334 human ensembl 74_37 -1 known silent c.6 p.A2 0.014 NULL pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK5 HGNC ENSG00000167754 53 0 0 36 8 18.1818 SIGLEC7 0 genome.wustl.edu 37 19 51645721 51645721 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 51645721 51645721 G A SNP SIGLEC7 ENST00000317643 human ensembl 74_37 +1 known missense c.95 p.S32N 0.000 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC7 HGNC ENSG00000168995 43 0 0 39 11 22 SIGLEC6 0 genome.wustl.edu 37 19 52034722 52034722 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 52034722 52034722 G A SNP SIGLEC6 ENST00000425629 human ensembl 74_37 -1 known missense c.119 p.T40M 0.054 pfam_Ig_V-set,smart_Ig_sub pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC6 HGNC ENSG00000105492 43 0 0 43 10 18.8679 MIR125A 0 genome.wustl.edu 37 19 52196187 52196187 + RNA SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 52196187 52196187 G A SNP MIR125A ENST00000602324 human ensembl 74_37 -1 known rna NULL NULL 0.187 - - - no_errors hsa-mir-125a miRBase ENSG00000269959 15 0 0 9 4 30.7692 ZNF836 0 genome.wustl.edu 37 19 52658932 52658932 + Silent SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 52658932 52658932 A G SNP ZNF836 ENST00000322146 human ensembl 74_37 -1 known silent c.2004 p.C668 0.121 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 ZNF836 HGNC ENSG00000196267 105 0 0 92 18 16.3636 ZNF480 0 genome.wustl.edu 37 19 52825457 52825457 + Silent SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 52825457 52825457 T C SNP ZNF480 ENST00000468240 human ensembl 74_37 +1 known silent c.954 p.N318 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF480 HGNC ENSG00000198464 60 0 0 46 11 19.2982 ZNF160 0 genome.wustl.edu 37 19 53571638 53571638 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 53571638 53571638 G A SNP ZNF160 ENST00000418871 human ensembl 74_37 -1 known missense c.2149 p.R717C 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF160 HGNC ENSG00000170949 144 0 0 137 13 8.66667 ZNF331 0 genome.wustl.edu 37 19 54080826 54080826 + Missense_Mutation SNP T T G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 54080826 54080826 T G SNP ZNF331 ENST00000253144 human ensembl 74_37 +1 known missense c.1012 p.W338G 0.472 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 ZNF331 HGNC ENSG00000130844 64 0 0 60 17 22.0779 LAIR1 0 genome.wustl.edu 37 19 54872627 54872627 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 54872627 54872627 C T SNP LAIR1 ENST00000391742 human ensembl 74_37 -1 known missense c.260 p.R87H 0.000 smart_Ig_sub smart_Ig_sub - no_errors LAIR1 HGNC ENSG00000167613 221 0 0 179 39 17.8899 KIR3DL2 0 genome.wustl.edu 37 19 55377854 55377854 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 55377854 55377854 G T SNP KIR3DL2 ENST00000326321 human ensembl 74_37 +1 known missense c.1135 p.G379W 0.001 NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DL2 HGNC ENSG00000240403 113 0 0 99 24 19.5122 RDH13 0 genome.wustl.edu 37 19 55570558 55570558 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 55570558 55570558 C T SNP RDH13 ENST00000415061 human ensembl 74_37 -1 known missense c.151 p.G51R 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors RDH13 HGNC ENSG00000160439 17 0 0 6 4 40 NLRP13 0 genome.wustl.edu 37 19 56416401 56416401 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 56416401 56416401 C T SNP NLRP13 ENST00000342929 human ensembl 74_37 -1 known missense c.2525 p.R842Q 0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP13 HGNC ENSG00000173572 69 0 0 58 19 24.6753 NLRP8 0 genome.wustl.edu 37 19 56487605 56487605 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 56487605 56487605 G T SNP NLRP8 ENST00000291971 human ensembl 74_37 +1 known missense c.2812 p.D938Y 0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ 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 NLRP8 HGNC ENSG00000179709 74 0 0 55 15 21.4286 ZNF583 0 genome.wustl.edu 37 19 56935008 56935008 + Silent SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 56935008 56935008 T C SNP ZNF583 ENST00000291598 human ensembl 74_37 +1 known silent c.981 p.I327 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF583 HGNC ENSG00000198440 62 0 0 78 24 23.5294 ZNF71 0 genome.wustl.edu 37 19 57133365 57133365 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 57133365 57133365 C T SNP ZNF71 ENST00000328070 human ensembl 74_37 +1 known missense c.710 p.T237M 0.983 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF71 HGNC ENSG00000197951 54 0 0 44 12 21.4286 FUT6 0 genome.wustl.edu 37 19 5832493 5832493 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 5832493 5832493 C T SNP FUT6 ENST00000592563 human ensembl 74_37 -1 known missense c.86 p.C29Y 0.018 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT6 HGNC ENSG00000156413 24 0 0 18 6 25 FUT5 0 genome.wustl.edu 37 19 5866758 5866758 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 5866758 5866758 C T SNP FUT5 ENST00000252675 human ensembl 74_37 -1 known missense c.979 p.A327T 0.000 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT5 HGNC ENSG00000130383 20 0 0 21 11 34.375 ZNF8 0 genome.wustl.edu 37 19 58805558 58805558 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 58805558 58805558 G A SNP ZNF8 ENST00000196548 human ensembl 74_37 +1 known silent c.384 p.P128 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 ZNF8 Uniprot_gn ENSG00000083842 35 0 0 33 7 17.5 ZNF132 0 genome.wustl.edu 37 19 58946494 58946494 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 58946494 58946494 G A SNP ZNF132 ENST00000254166 human ensembl 74_37 -1 known missense c.317 p.A106V 0.022 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 ZNF132 HGNC ENSG00000131849 151 0 0 128 34 20.9877 TRIM28 0 genome.wustl.edu 37 19 59060698 59060698 + Missense_Mutation SNP G G C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 59060698 59060698 G C SNP TRIM28 ENST00000253024 human ensembl 74_37 +1 known missense c.1663 p.E555Q 1.000 NULL pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors TRIM28 HGNC ENSG00000130726 202 0 0 206 13 5.93607 RANBP3 0 genome.wustl.edu 37 19 5918537 5918537 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 5918537 5918537 C A SNP RANBP3 ENST00000340578 human ensembl 74_37 -1 known missense c.1443 p.E481D 1.000 pfam_Ran_bind_dom,smart_Ran_bind_dom pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom - no_errors RANBP3 HGNC ENSG00000031823 53 0 0 36 12 25 POLRMT 0 genome.wustl.edu 37 19 621236 621236 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 621236 621236 G A SNP POLRMT ENST00000588649 human ensembl 74_37 -1 known missense c.2462 p.A821V 0.998 NULL pfam_DNA-dir_Rpol_phage-type - no_errors POLRMT HGNC ENSG00000099821 24 0 0 25 5 16.6667 INSR 0 genome.wustl.edu 37 19 7184545 7184545 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 7184545 7184545 G A SNP INSR ENST00000302850 human ensembl 74_37 -1 known silent c.756 p.C252 0.354 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSR HGNC ENSG00000171105 56 0 0 42 9 17.6471 CAMSAP3 0 genome.wustl.edu 37 19 7670158 7670158 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 7670158 7670158 C T SNP CAMSAP3 ENST00000446248 human ensembl 74_37 +1 known silent c.195 p.Y65 0.983 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP3 HGNC ENSG00000076826 195 0 0 177 36 16.9014 CAMSAP3 0 genome.wustl.edu 37 19 7671163 7671163 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 7671163 7671163 C A SNP CAMSAP3 ENST00000446248 human ensembl 74_37 +1 known missense c.409 p.H137N 1.000 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP3 HGNC ENSG00000076826 157 0 0 158 30 15.9574 ELANE 0 genome.wustl.edu 37 19 852351 852351 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 852351 852351 C T SNP ELANE ENST00000263621 human ensembl 74_37 +1 known missense c.23 p.A8V 0.001 NULL pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors ELANE HGNC ENSG00000197561 30 0 0 22 5 18.5185 OR2Z1 0 genome.wustl.edu 37 19 8842032 8842032 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 8842032 8842032 C T SNP OR2Z1 ENST00000324060 human ensembl 74_37 +1 known silent c.642 p.I214 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2Z1 HGNC ENSG00000181733 63 0 0 72 22 23.4043 MUC16 0 genome.wustl.edu 37 19 9017469 9017469 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 9017469 9017469 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.37855 p.R12619C 0.000 pfam_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 61 0 0 52 7 11.8644 MUC16 0 genome.wustl.edu 37 19 9069476 9069476 + Silent SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 9069476 9069476 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.17970 p.S5990 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 101 0 0 119 23 16.1972 NPAS2 0 genome.wustl.edu 37 2 101606731 101606731 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 101606731 101606731 T C SNP NPAS2 ENST00000542504 human ensembl 74_37 +1 known missense c.2036 p.M679T 0.199 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors NPAS2 HGNC ENSG00000170485 98 0 0 79 19 19.3878 GPR45 0 genome.wustl.edu 37 2 105859047 105859047 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 105859047 105859047 G A SNP GPR45 ENST00000258456 human ensembl 74_37 +1 known silent c.732 p.A244 0.017 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_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR45 HGNC ENSG00000135973 86 0 0 80 27 25.2336 ST6GAL2 0 genome.wustl.edu 37 2 107460323 107460323 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 107460323 107460323 C A SNP ST6GAL2 ENST00000361686 human ensembl 74_37 -1 known missense c.111 p.E37D 0.943 NULL pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl - no_errors ST6GAL2 HGNC ENSG00000144057 32 0 0 27 5 15.625 ROCK2 0 genome.wustl.edu 37 2 11332391 11332391 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 11332391 11332391 G T SNP ROCK2 ENST00000315872 human ensembl 74_37 -1 known missense c.4046 p.P1349H 1.000 smart_Pleckstrin_homology,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology pfam_Prot_kinase_dom,pfam_Rho-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK2 HGNC ENSG00000134318 168 0 0 197 46 18.93 FOXD4L1 0 genome.wustl.edu 37 2 114257061 114257061 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 114257061 114257061 C T SNP FOXD4L1 ENST00000306507 human ensembl 74_37 +1 known silent c.228 p.G76 0.006 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4L1 HGNC ENSG00000184492 44 0 0 35 19 35.1852 GREB1 0 genome.wustl.edu 37 2 11733195 11733195 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 11733195 11733195 G A SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known missense c.1639 p.V547M 1.000 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 33 0 0 24 6 20 INSIG2 0 genome.wustl.edu 37 2 118864685 118864685 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 118864685 118864685 C A SNP INSIG2 ENST00000245787 human ensembl 74_37 +1 known missense c.556 p.L186I 1.000 pfam_INSIG_fam pfam_INSIG_fam - no_errors INSIG2 HGNC ENSG00000125629 56 0 0 70 13 15.6627 MARCO 0 genome.wustl.edu 37 2 119752091 119752091 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 119752091 119752091 G A SNP MARCO ENST00000327097 human ensembl 74_37 +1 known missense c.1558 p.V520I 0.006 NULL pfam_Collagen,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors MARCO HGNC ENSG00000019169 63 0 0 49 15 23.4375 RAB6C 0 genome.wustl.edu 37 2 130738155 130738155 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 130738155 130738155 G T SNP RAB6C ENST00000410061 human ensembl 74_37 +1 known missense c.467 p.R156M 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,smart_Ran_GTPase,prints_Small_GTPase,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,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB6C HGNC ENSG00000222014 107 0 0 60 17 22.0779 NCKAP5 0 genome.wustl.edu 37 2 133540012 133540012 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 133540012 133540012 C T SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known missense c.4372 p.A1458T 0.000 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 22 0 0 17 3 15 LRP1B 0 genome.wustl.edu 37 2 141272227 141272227 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 141272227 141272227 A G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.8264 p.I2755T 1.000 superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 114 0 0 100 18 15.2542 ZEB2 0 genome.wustl.edu 37 2 145162430 145162430 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 145162430 145162430 G A SNP ZEB2 ENST00000303660 human ensembl 74_37 -1 known missense c.565 p.P189S 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 31 0 0 14 4 22.2222 TANC1 0 genome.wustl.edu 37 2 160042391 160042391 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 160042391 160042391 T C SNP TANC1 ENST00000263635 human ensembl 74_37 +1 known missense c.2600 p.L867P 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 31 0 0 30 8 21.0526 KCNH7 0 genome.wustl.edu 37 2 163250908 163250908 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 163250908 163250908 C T SNP KCNH7 ENST00000332142 human ensembl 74_37 -1 known missense c.2701 p.G901R 0.993 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS - no_errors KCNH7 HGNC ENSG00000184611 43 0 0 37 5 11.9048 PXDN 0 genome.wustl.edu 37 2 1653138 1653138 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 1653138 1653138 G A SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.2414 p.T805M 0.945 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 56 0 0 38 13 25.4902 CSRNP3 0 genome.wustl.edu 37 2 166514422 166514422 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 166514422 166514422 C T SNP CSRNP3 ENST00000314499 human ensembl 74_37 +1 known silent c.300 p.S100 0.977 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP3 HGNC ENSG00000178662 63 0 0 48 15 23.8095 SCN1A 0 genome.wustl.edu 37 2 166903335 166903335 + Missense_Mutation SNP T T A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 166903335 166903335 T A SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known missense c.1322 p.E441V 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 72 0 0 77 15 16.3043 SCN7A 0 genome.wustl.edu 37 2 167288977 167288977 + Nonsense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 167288977 167288977 C A SNP SCN7A ENST00000409855 human ensembl 74_37 -1 known nonsense c.2443 p.E815* 0.984 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 140 0 0 142 24 14.4578 XIRP2 0 genome.wustl.edu 37 2 168105800 168105800 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 168105800 168105800 C T SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.7898 p.S2633L 0.003 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 75 0 0 77 20 20.6186 LRP2 0 genome.wustl.edu 37 2 170097872 170097872 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 170097872 170097872 G A SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.3671 p.T1224I 1.000 superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 120 0 0 117 29 19.863 UBR3 0 genome.wustl.edu 37 2 170850862 170850862 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 170850862 170850862 C T SNP UBR3 ENST00000272793 human ensembl 74_37 +1 known missense c.3814 p.P1272S 1.000 NULL pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR3 HGNC ENSG00000144357 84 0 0 74 13 14.9425 MYO3B 0 genome.wustl.edu 37 2 171258099 171258099 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 171258099 171258099 C T SNP MYO3B ENST00000334231 human ensembl 74_37 +1 known missense c.2054 p.A685V 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3B HGNC ENSG00000071909 40 0 0 42 12 22.2222 DLX2 0 genome.wustl.edu 37 2 172965288 172965288 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 172965288 172965288 C T SNP DLX2 ENST00000234198 human ensembl 74_37 -1 known missense c.970 p.A324T 1.000 NULL pfam_Homeobox_dom,pfam_Distal-less_N,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX2 HGNC ENSG00000115844 56 0 0 35 8 18.6047 HOXD3 0 genome.wustl.edu 37 2 177036642 177036642 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 177036642 177036642 C T SNP HOXD3 ENST00000249440 human ensembl 74_37 +1 known silent c.939 p.A313 0.964 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXD3 HGNC ENSG00000128652 15 0 0 13 7 35 HOXD3 0 genome.wustl.edu 37 2 177036654 177036654 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 177036654 177036654 G A SNP HOXD3 ENST00000249440 human ensembl 74_37 +1 known silent c.951 p.A317 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXD3 HGNC ENSG00000128652 15 0 0 15 4 21.0526 TTN 0 genome.wustl.edu 37 2 179404574 179404574 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 179404574 179404574 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.90514 p.K30172E 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 51 0 0 54 3 5.26316 TTN 0 genome.wustl.edu 37 2 179413214 179413214 + Nonsense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 179413214 179413214 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known nonsense c.85435 p.R28479* 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 209 0 0 209 26 11.0638 TTN 0 genome.wustl.edu 37 2 179447201 179447201 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 179447201 179447201 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.58278 p.D19426E 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 23 0 0 23 5 17.8571 TTN 0 genome.wustl.edu 37 2 179481674 179481674 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 179481674 179481674 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.40238 p.T13413M 0.990 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 126 0 0 131 37 22.0238 TTN 0 genome.wustl.edu 37 2 179501201 179501201 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 179501201 179501201 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.33549 p.S11183 0.174 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 43 0 0 38 8 17.3913 MFSD6 0 genome.wustl.edu 37 2 191301852 191301852 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 191301852 191301852 G T SNP MFSD6 ENST00000281416 human ensembl 74_37 +1 known missense c.1097 p.R366M 0.998 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD6 HGNC ENSG00000151690 39 0 0 26 3 10.3448 SDPR 0 genome.wustl.edu 37 2 192701367 192701367 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 192701367 192701367 G A SNP SDPR ENST00000304141 human ensembl 74_37 -1 known missense c.560 p.P187L 0.012 NULL NULL - no_errors SDPR HGNC ENSG00000168497 32 0 0 27 12 30.7692 TRAK2 0 genome.wustl.edu 37 2 202265809 202265809 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 202265809 202265809 T C SNP TRAK2 ENST00000332624 human ensembl 74_37 -1 known missense c.295 p.T99A 1.000 pfam_HAP1_N pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK2 HGNC ENSG00000115993 65 0 0 75 14 15.7303 STRADB 0 genome.wustl.edu 37 2 202339376 202339376 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 202339376 202339376 G A SNP STRADB ENST00000194530 human ensembl 74_37 +1 known missense c.322 p.V108M 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 STRADB HGNC ENSG00000082146 87 0 0 79 18 18.5567 NRP2 0 genome.wustl.edu 37 2 206659485 206659485 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 206659485 206659485 C T SNP NRP2 ENST00000360409 human ensembl 74_37 +1 known silent c.2499 p.Y833 0.134 pirsf_Neuropilin pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom - no_errors NRP2 HGNC ENSG00000118257 88 0 0 76 4 5 DYTN 0 genome.wustl.edu 37 2 207559536 207559536 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 207559536 207559536 C A SNP DYTN ENST00000452335 human ensembl 74_37 -1 known missense c.785 p.S262I 0.984 pfam_Znf_ZZ,smart_Znf_ZZ,pfscan_Znf_ZZ pfam_EF-hand_dom_typ2,pfam_EF-hand_dom_typ1,pfam_Znf_ZZ,smart_Znf_ZZ,pfscan_Znf_ZZ - no_errors DYTN HGNC ENSG00000232125 91 0 0 74 14 15.9091 RPE 0 genome.wustl.edu 37 2 210882219 210882219 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 210882219 210882219 T C SNP RPE ENST00000359429 human ensembl 74_37 +1 known missense c.500 p.F167S 1.000 pfam_Ribul_P_3_epim-like,superfamily_RibuloseP-bd_barrel,tigrfam_Ribul_P_3_epim-like pfam_Ribul_P_3_epim-like,superfamily_RibuloseP-bd_barrel,tigrfam_Ribul_P_3_epim-like - no_errors RPE HGNC ENSG00000197713 89 0 0 85 18 17.4757 SPAG16 0 genome.wustl.edu 37 2 214354794 214354794 + Silent SNP C C G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 214354794 214354794 C G SNP SPAG16 ENST00000331683 human ensembl 74_37 +1 known silent c.1050 p.L350 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors SPAG16 HGNC ENSG00000144451 34 0 0 43 4 8.51064 SPAG16 0 genome.wustl.edu 37 2 214354804 214354804 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 214354804 214354804 C A SNP SPAG16 ENST00000331683 human ensembl 74_37 +1 known missense c.1060 p.P354T 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors SPAG16 HGNC ENSG00000144451 32 0 0 37 4 9.7561 FN1 0 genome.wustl.edu 37 2 216226286 216226286 + Nonsense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 216226286 216226286 G A SNP FN1 ENST00000354785 human ensembl 74_37 -1 known nonsense c.7426 p.R2476* 0.981 NULL pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 180 0 0 152 23 13.1429 IGFBP2 0 genome.wustl.edu 37 2 217525350 217525350 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 217525350 217525350 C T SNP IGFBP2 ENST00000233809 human ensembl 74_37 +1 known silent c.513 p.G171 0.015 NULL 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-2 - no_errors IGFBP2 HGNC ENSG00000115457 38 0 0 38 4 9.52381 GPBAR1 0 genome.wustl.edu 37 2 219127871 219127871 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 219127871 219127871 C T SNP GPBAR1 ENST00000479077 human ensembl 74_37 +1 known missense c.424 p.P142S 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPBAR1 HGNC ENSG00000179921 72 0 0 69 9 11.5385 USP37 0 genome.wustl.edu 37 2 219328045 219328045 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 219328045 219328045 G A SNP USP37 ENST00000258399 human ensembl 74_37 -1 known silent c.2511 p.T837 0.915 pfam_Peptidase_C19/C67,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,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 69 0 0 64 12 15.7895 CCDC108 0 genome.wustl.edu 37 2 219875635 219875635 + Missense_Mutation SNP A A T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 219875635 219875635 A T SNP CCDC108 ENST00000341552 human ensembl 74_37 -1 known missense c.4041 p.N1347K 1.000 NULL superfamily_PapD-like,pfscan_MSP_dom - no_errors CCDC108 HGNC ENSG00000181378 43 0 0 30 8 21.0526 PTPRN 0 genome.wustl.edu 37 2 220164967 220164967 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 220164967 220164967 C T SNP PTPRN ENST00000295718 human ensembl 74_37 -1 known silent c.1176 p.P392 0.295 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN HGNC ENSG00000054356 57 0 0 61 6 8.95522 SLC4A3 0 genome.wustl.edu 37 2 220493266 220493266 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 220493266 220493266 G A SNP SLC4A3 ENST00000273063 human ensembl 74_37 +1 known missense c.191 p.R64H 1.000 NULL 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 27 0 0 40 7 14.8936 EPHA4 0 genome.wustl.edu 37 2 222298982 222298982 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 222298982 222298982 C T SNP EPHA4 ENST00000281821 human ensembl 74_37 -1 known silent c.2376 p.A792 0.983 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA4 HGNC ENSG00000116106 139 1 0.714286 113 30 20.979 KCNE4 0 genome.wustl.edu 37 2 223918058 223918058 + Silent SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 223918058 223918058 C A SNP KCNE4 ENST00000281830 human ensembl 74_37 +1 known silent c.663 p.S221 1.000 NULL pfam_K_chnl_volt-dep_bsu_KCNE,prints_K_chnl_volt-dep_bsu_KCNE - no_errors KCNE4 HGNC ENSG00000152049 15 0 0 13 5 27.7778 SERPINE2 0 genome.wustl.edu 37 2 224863030 224863030 + Nonsense_Mutation SNP T T A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 224863030 224863030 T A SNP SERPINE2 ENST00000258405 human ensembl 74_37 -1 known nonsense c.289 p.K97* 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINE2 HGNC ENSG00000135919 57 0 0 57 18 24 NYAP2 0 genome.wustl.edu 37 2 226446979 226446979 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 226446979 226446979 C T SNP NYAP2 ENST00000272907 human ensembl 74_37 +1 known silent c.846 p.D282 0.000 NULL NULL - no_errors NYAP2 HGNC ENSG00000144460 78 0 0 73 19 20.6522 COL4A3 0 genome.wustl.edu 37 2 228158020 228158020 + Silent SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 228158020 228158020 T C SNP COL4A3 ENST00000396578 human ensembl 74_37 +1 known silent c.3324 p.S1108 0.528 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A3 HGNC ENSG00000169031 29 0 0 26 3 10.3448 DNER 0 genome.wustl.edu 37 2 230223322 230223322 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 230223322 230223322 G A SNP DNER ENST00000341772 human ensembl 74_37 -1 known silent c.2148 p.I716 0.573 NULL pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DNER HGNC ENSG00000187957 66 0 0 63 16 20.2532 DNER 0 genome.wustl.edu 37 2 230231681 230231681 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 230231681 230231681 C A SNP DNER ENST00000341772 human ensembl 74_37 -1 known missense c.2010 p.Q670H 1.000 NULL pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DNER HGNC ENSG00000187957 34 0 0 35 8 18.6047 DIS3L2 0 genome.wustl.edu 37 2 233001390 233001390 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 233001390 233001390 G A SNP DIS3L2 ENST00000325385 human ensembl 74_37 +1 known missense c.911 p.R304H 1.000 NULL NULL - no_errors DIS3L2 HGNC ENSG00000144535 107 0 0 93 17 15.4545 ALPP 0 genome.wustl.edu 37 2 233243925 233243925 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 233243925 233243925 C T SNP ALPP ENST00000392027 human ensembl 74_37 +1 known missense c.209 p.T70M 0.987 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPP HGNC ENSG00000163283 60 0 0 60 8 11.7647 ALPP 0 genome.wustl.edu 37 2 233246265 233246265 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 233246265 233246265 C T SNP ALPP ENST00000392027 human ensembl 74_37 +1 known silent c.1368 p.G456 0.998 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPP HGNC ENSG00000163283 39 0 0 22 6 21.4286 TRPM8 0 genome.wustl.edu 37 2 234846108 234846108 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 234846108 234846108 C T SNP TRPM8 ENST00000324695 human ensembl 74_37 +1 known silent c.303 p.D101 0.742 NULL pfam_Ion_trans_dom - no_errors TRPM8 HGNC ENSG00000144481 128 0 0 137 24 14.9068 COL6A3 0 genome.wustl.edu 37 2 238280909 238280909 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 238280909 238280909 C T SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.3751 p.V1251I 0.110 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 42 0 0 37 7 15.9091 HDAC4 0 genome.wustl.edu 37 2 239975163 239975163 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 239975163 239975163 C T SNP HDAC4 ENST00000345617 human ensembl 74_37 -1 known missense c.3208 p.E1070K 0.999 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC4 HGNC ENSG00000068024 70 0 0 84 6 6.66667 HDLBP 0 genome.wustl.edu 37 2 242203992 242203992 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 242203992 242203992 G A SNP HDLBP ENST00000310931 human ensembl 74_37 -1 known silent c.105 p.S35 0.137 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC ENSG00000115677 133 0 0 89 32 26.4463 CXXC11 0 genome.wustl.edu 37 2 242815402 242815402 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 242815402 242815402 C T SNP CXXC11 ENST00000343216 human ensembl 74_37 +1 known silent c.1695 p.P565 0.001 NULL NULL - no_errors CXXC11 HGNC ENSG00000188011 191 0 0 155 9 5.4878 NCOA1 0 genome.wustl.edu 37 2 24930502 24930502 + Silent SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 24930502 24930502 G T SNP NCOA1 ENST00000348332 human ensembl 74_37 +1 known silent c.2163 p.V721 0.114 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA1 HGNC ENSG00000084676 50 0 0 45 16 26.2295 PTRHD1 0 genome.wustl.edu 37 2 25013338 25013338 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 25013338 25013338 C T SNP PTRHD1 ENST00000328379 human ensembl 74_37 -1 known missense c.365 p.R122Q 0.996 pfam_PTH2,superfamily_Pep_tRNA_hydro_II_dom pfam_PTH2,superfamily_Pep_tRNA_hydro_II_dom - no_errors PTRHD1 HGNC ENSG00000184924 57 0 0 68 10 12.8205 DNMT3A 0 genome.wustl.edu 37 2 25463308 25463308 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 25463308 25463308 G A SNP DNMT3A ENST00000264709 human ensembl 74_37 -1 known missense c.2185 p.R729W 1.000 pfam_C5_MeTfrase pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom - no_errors DNMT3A HGNC ENSG00000119772 51 0 0 32 7 17.9487 DTNB 0 genome.wustl.edu 37 2 25611181 25611181 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 25611181 25611181 C T SNP DTNB ENST00000406818 human ensembl 74_37 -1 known missense c.1625 p.R542Q 0.998 pirsf_Distrobrevin pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ - no_errors DTNB HGNC ENSG00000138101 35 0 0 19 6 24 RAB10 0 genome.wustl.edu 37 2 26350067 26350067 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 26350067 26350067 G A SNP RAB10 ENST00000264710 human ensembl 74_37 +1 known missense c.382 p.D128N 0.998 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB10 HGNC ENSG00000084733 84 0 0 66 16 19.5122 OTOF 0 genome.wustl.edu 37 2 26700603 26700603 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 26700603 26700603 G A SNP OTOF ENST00000272371 human ensembl 74_37 -1 known silent c.2229 p.N743 0.988 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 35 0 0 28 4 12.5 EMILIN1 0 genome.wustl.edu 37 2 27306220 27306220 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 27306220 27306220 G A SNP EMILIN1 ENST00000380320 human ensembl 74_37 +1 known missense c.1781 p.R594H 0.998 NULL pfam_EMI_domain,pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors EMILIN1 HGNC ENSG00000138080 47 0 0 48 17 26.1538 CAD 0 genome.wustl.edu 37 2 27454356 27454356 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 27454356 27454356 C T SNP CAD ENST00000264705 human ensembl 74_37 +1 known missense c.2308 p.R770C 1.000 prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf - no_errors CAD HGNC ENSG00000084774 37 0 0 24 6 20 SLC4A1AP 0 genome.wustl.edu 37 2 27890237 27890237 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 27890237 27890237 A G SNP SLC4A1AP ENST00000326019 human ensembl 74_37 +1 known missense c.1124 p.Q375R 1.000 pfam_dsRNA-bd_dom pfam_FHA_dom,pfam_dsRNA-bd_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors SLC4A1AP HGNC ENSG00000163798 57 0 0 48 3 5.88235 SNORD53 0 genome.wustl.edu 37 2 29150002 29150002 + RNA SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 29150002 29150002 T C SNP SNORD53 ENST00000579969 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SNORD53 HGNC ENSG00000265145 141 0 0 113 22 16.2963 CLIP4 0 genome.wustl.edu 37 2 29404460 29404460 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 29404460 29404460 A G SNP CLIP4 ENST00000320081 human ensembl 74_37 +1 known missense c.1819 p.S607G 1.000 superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain - no_errors CLIP4 HGNC ENSG00000115295 43 0 0 42 11 20.7547 LCLAT1 0 genome.wustl.edu 37 2 30791031 30791031 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 30791031 30791031 G A SNP LCLAT1 ENST00000309052 human ensembl 74_37 +1 known missense c.731 p.R244H 1.000 pfam_Plipid/glycerol_acylTrfase pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors LCLAT1 HGNC ENSG00000172954 28 0 0 38 4 9.52381 FAM98A 0 genome.wustl.edu 37 2 33810391 33810391 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 33810391 33810391 C T SNP FAM98A ENST00000238823 human ensembl 74_37 -1 known missense c.1009 p.G337R 1.000 NULL pfam_Uncharacterised_FAM98 - no_errors FAM98A HGNC ENSG00000119812 75 0 0 64 12 15.7895 TRAPPC12 0 genome.wustl.edu 37 2 3483101 3483101 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 3483101 3483101 G A SNP TRAPPC12 ENST00000324266 human ensembl 74_37 +1 known missense c.2077 p.V693M 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TRAPPC12 HGNC ENSG00000171853 103 0 0 78 18 18.75 STRN 0 genome.wustl.edu 37 2 37113870 37113870 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 37113870 37113870 T C SNP STRN ENST00000263918 human ensembl 74_37 -1 known missense c.1031 p.K344R 1.000 NULL pfam_Striatin_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors STRN HGNC ENSG00000115808 113 0 0 128 21 14.094 PLEKHH2 0 genome.wustl.edu 37 2 43973034 43973034 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 43973034 43973034 G T SNP PLEKHH2 ENST00000282406 human ensembl 74_37 +1 known missense c.3585 p.Q1195H 1.000 smart_Band_41_domain,pfscan_FERM_domain pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH2 HGNC ENSG00000152527 38 0 0 29 10 25.641 ABCG5 0 genome.wustl.edu 37 2 44053638 44053638 + Silent SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 44053638 44053638 T C SNP ABCG5 ENST00000260645 human ensembl 74_37 -1 known silent c.657 p.P219 0.316 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCG5 HGNC ENSG00000138075 134 0 0 121 18 12.9496 SLC3A1 0 genome.wustl.edu 37 2 44540984 44540984 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 44540984 44540984 G A SNP SLC3A1 ENST00000260649 human ensembl 74_37 +1 known missense c.1511 p.R504H 0.034 superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom - no_errors SLC3A1 HGNC ENSG00000138079 54 0 0 49 9 15.5172 SIX2 0 genome.wustl.edu 37 2 45235695 45235695 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 45235695 45235695 C A SNP SIX2 ENST00000303077 human ensembl 74_37 -1 known missense c.555 p.K185N 1.000 superfamily_Homeodomain-like,smart_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX2 HGNC ENSG00000170577 73 0 0 57 19 25 TTC7A 0 genome.wustl.edu 37 2 47233862 47233862 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 47233862 47233862 A G SNP TTC7A ENST00000319190 human ensembl 74_37 +1 known missense c.1286 p.K429R 1.000 smart_TPR_repeat pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC7A HGNC ENSG00000068724 38 0 0 38 9 19.1489 TTC7A 0 genome.wustl.edu 37 2 47251450 47251450 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 47251450 47251450 C T SNP TTC7A ENST00000319190 human ensembl 74_37 +1 known silent c.1593 p.D531 0.998 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 TTC7A HGNC ENSG00000068724 43 0 0 41 8 16.3265 NRXN1 0 genome.wustl.edu 37 2 51255042 51255042 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 51255042 51255042 G A SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known missense c.370 p.R124C 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,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 33 0 0 24 8 25 SPTBN1 0 genome.wustl.edu 37 2 54856880 54856880 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 54856880 54856880 A G SNP SPTBN1 ENST00000356805 human ensembl 74_37 +1 known missense c.2609 p.Q870R 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 SPTBN1 HGNC ENSG00000115306 41 0 0 27 3 10 USP34 0 genome.wustl.edu 37 2 61430368 61430368 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 61430368 61430368 G T SNP USP34 ENST00000398571 human ensembl 74_37 -1 known missense c.9415 p.L3139I 1.000 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 51 0 0 48 3 5.88235 USP34 0 genome.wustl.edu 37 2 61441427 61441427 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 61441427 61441427 C T SNP USP34 ENST00000398571 human ensembl 74_37 -1 known missense c.8450 p.R2817H 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 232 0 0 169 28 14.2132 AFTPH 0 genome.wustl.edu 37 2 64800123 64800123 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 64800123 64800123 C T SNP AFTPH ENST00000422803 human ensembl 74_37 +1 known missense c.2315 p.A772V 1.000 NULL NULL - no_errors AFTPH HGNC ENSG00000119844 123 0 0 162 37 18.593 SPRED2 0 genome.wustl.edu 37 2 65571870 65571870 + Nonsense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 65571870 65571870 G A SNP SPRED2 ENST00000356388 human ensembl 74_37 -1 known nonsense c.187 p.R63* 1.000 pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors SPRED2 HGNC ENSG00000198369 33 0 0 28 5 15.1515 MCEE 0 genome.wustl.edu 37 2 71351378 71351378 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 71351378 71351378 C T SNP MCEE ENST00000244217 human ensembl 74_37 -1 known silent c.336 p.L112 0.996 pfam_Glyas_Fos-R_dOase_dom,tigrfam_MeMalonyl-CoA_epimerase pfam_Glyas_Fos-R_dOase_dom,tigrfam_MeMalonyl-CoA_epimerase - no_errors MCEE HGNC ENSG00000124370 36 0 0 39 8 17.0213 INO80B 0 genome.wustl.edu 37 2 74682557 74682557 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 74682557 74682557 C T SNP INO80B ENST00000452361 human ensembl 74_37 +1 known missense c.83 p.A28V 0.470 NULL pfam_INO80B_C,pfam_Znf_HIT - no_errors INO80B HGNC ENSG00000115274 39 0 0 34 6 15 MOGS 0 genome.wustl.edu 37 2 74688756 74688756 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 74688756 74688756 G A SNP MOGS ENST00000233616 human ensembl 74_37 -1 known silent c.2160 p.R720 0.909 pfam_Glycoside_hydrolase_63,superfamily_6-hairpin_glycosidase-like pfam_Glycoside_hydrolase_63,superfamily_6-hairpin_glycosidase-like - no_errors MOGS HGNC ENSG00000115275 36 0 0 35 6 14.6341 CTNNA2 0 genome.wustl.edu 37 2 80136799 80136799 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 80136799 80136799 T C SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known missense c.1034 p.I345T 1.000 pfam_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 65 0 0 59 14 19.1781 LRRTM1 0 genome.wustl.edu 37 2 80530698 80530698 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 80530698 80530698 C T SNP LRRTM1 ENST00000295057 human ensembl 74_37 -1 known missense c.247 p.G83S 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC ENSG00000162951 137 0 0 85 14 14.1414 LRRTM1 0 genome.wustl.edu 37 2 80530714 80530714 + Silent SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 80530714 80530714 G T SNP LRRTM1 ENST00000295057 human ensembl 74_37 -1 known silent c.231 p.L77 0.999 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC ENSG00000162951 111 0 0 57 17 22.973 TGOLN2 0 genome.wustl.edu 37 2 85554262 85554262 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 85554262 85554262 G A SNP TGOLN2 ENST00000377386 human ensembl 74_37 -1 known missense c.593 p.A198V 0.000 NULL NULL - no_errors TGOLN2 HGNC ENSG00000152291 297 0 0 264 59 18.2663 MAL 0 genome.wustl.edu 37 2 95713804 95713804 + Missense_Mutation SNP C C G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 95713804 95713804 C G SNP MAL ENST00000309988 human ensembl 74_37 +1 known missense c.194 p.A65G 1.000 pfam_Marvel,prints_MAL pfam_Marvel,prints_MAL - no_errors MAL HGNC ENSG00000172005 51 0 0 47 7 12.963 SNRNP200 0 genome.wustl.edu 37 2 96943574 96943574 + Nonsense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 96943574 96943574 G A SNP SNRNP200 ENST00000323853 human ensembl 74_37 -1 known nonsense c.5725 p.Q1909* 1.000 pfam_Sec63-dom,smart_Sec63-dom pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC ENSG00000144028 86 0 0 82 17 17.1717 YWHAQ 0 genome.wustl.edu 37 2 9728377 9728377 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 9728377 9728377 G A SNP YWHAQ ENST00000238081 human ensembl 74_37 -1 known missense c.499 p.R167C 1.000 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors YWHAQ HGNC ENSG00000134308 40 0 0 48 20 29.4118 SNAP25 0 genome.wustl.edu 37 20 10273591 10273591 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 10273591 10273591 G T SNP SNAP25 ENST00000304886 human ensembl 74_37 +1 known missense c.225 p.E75D 1.000 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 77 0 0 63 21 25 CSRP2BP 0 genome.wustl.edu 37 20 18143544 18143544 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 18143544 18143544 G A SNP CSRP2BP ENST00000435364 human ensembl 74_37 +1 known silent c.1626 p.T542 0.000 NULL pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors CSRP2BP HGNC ENSG00000149474 49 0 0 42 6 12.5 PAX1 0 genome.wustl.edu 37 20 21687221 21687221 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 21687221 21687221 C T SNP PAX1 ENST00000398485 human ensembl 74_37 +1 known silent c.432 p.H144 1.000 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX1 HGNC ENSG00000125813 62 0 0 55 6 9.83607 ACSS1 0 genome.wustl.edu 37 20 24988454 24988454 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 24988454 24988454 C T SNP ACSS1 ENST00000323482 human ensembl 74_37 -1 known missense c.2014 p.A672T 0.000 tigrfam_Ac_CoA_lig pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig - no_errors ACSS1 HGNC ENSG00000154930 112 0 0 95 23 19.4915 ACSS1 0 genome.wustl.edu 37 20 25004177 25004177 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 25004177 25004177 G A SNP ACSS1 ENST00000323482 human ensembl 74_37 -1 known silent c.732 p.T244 0.000 pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig - no_errors ACSS1 HGNC ENSG00000154930 55 0 0 43 10 18.8679 NINL 0 genome.wustl.edu 37 20 25439088 25439088 + Silent SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 25439088 25439088 A G SNP NINL ENST00000278886 human ensembl 74_37 -1 known silent c.3774 p.R1258 0.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NINL HGNC ENSG00000101004 15 0 0 5 2 28.5714 PTPRA 0 genome.wustl.edu 37 20 3003439 3003439 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 3003439 3003439 G A SNP PTPRA ENST00000425918 human ensembl 74_37 +1 known missense c.1466 p.R489Q 1.000 pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRA HGNC ENSG00000132670 62 0 0 45 15 25 SLC4A11 0 genome.wustl.edu 37 20 3209181 3209181 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 3209181 3209181 C T SNP SLC4A11 ENST00000380059 human ensembl 74_37 -1 known missense c.2494 p.V832M 0.067 pfam_HCO3_transpt_C pfam_HCO3_transpt_C,pfam_PTS_EIIA_type-2_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk - no_errors SLC4A11 HGNC ENSG00000088836 42 0 0 34 7 17.0732 NECAB3 0 genome.wustl.edu 37 20 32248127 32248127 + Silent SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 32248127 32248127 T C SNP NECAB3 ENST00000246190 human ensembl 74_37 -1 known silent c.462 p.Q154 0.477 NULL pfam_Antibiotic_mOase,pfam_EF_hand_dom,superfamily_Dimeric_a/b-barrel,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NECAB3 HGNC ENSG00000125967 57 0 0 51 13 20.3125 NCOA6 0 genome.wustl.edu 37 20 33328372 33328372 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 33328372 33328372 C T SNP NCOA6 ENST00000359003 human ensembl 74_37 -1 known silent c.5688 p.P1896 0.000 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 27 0 0 26 6 18.75 TRPC4AP 0 genome.wustl.edu 37 20 33593526 33593526 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 33593526 33593526 G A SNP TRPC4AP ENST00000252015 human ensembl 74_37 -1 known silent c.1908 p.D636 1.000 pfam_DUF3689 pfam_DUF3689 - no_errors TRPC4AP HGNC ENSG00000100991 91 0 0 90 20 18.1818 RBM12 0 genome.wustl.edu 37 20 34241632 34241632 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 34241632 34241632 T C SNP RBM12 ENST00000359646 human ensembl 74_37 -1 known missense c.1613 p.D538G 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12 HGNC ENSG00000244462 318 1 0.31348 277 56 16.8168 RBL1 0 genome.wustl.edu 37 20 35672624 35672624 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 35672624 35672624 C A SNP RBL1 ENST00000373664 human ensembl 74_37 -1 known missense c.1635 p.E545D 0.999 pfam_RB_A,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 69 0 0 51 19 27.1429 SIGLEC1 0 genome.wustl.edu 37 20 3669825 3669825 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 3669825 3669825 C T SNP SIGLEC1 ENST00000344754 human ensembl 74_37 -1 known missense c.5047 p.A1683T 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC1 HGNC ENSG00000088827 204 1 0.487805 157 26 14.2077 TGM2 0 genome.wustl.edu 37 20 36766620 36766620 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 36766620 36766620 C T SNP TGM2 ENST00000361475 human ensembl 74_37 -1 known missense c.1510 p.V504I 0.000 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM2 HGNC ENSG00000198959 9 0 0 13 3 18.75 TRIB3 0 genome.wustl.edu 37 20 368740 368740 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 368740 368740 G A SNP TRIB3 ENST00000422053 human ensembl 74_37 +1 known missense c.167 p.R56H 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors TRIB3 HGNC ENSG00000101255 100 0 0 86 17 16.5049 HSPA12B 0 genome.wustl.edu 37 20 3725645 3725645 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 3725645 3725645 C T SNP HSPA12B ENST00000254963 human ensembl 74_37 +1 known silent c.363 p.T121 0.160 NULL NULL - no_errors HSPA12B HGNC ENSG00000132622 217 0 0 161 60 27.1493 PPP1R16B 0 genome.wustl.edu 37 20 37547109 37547109 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 37547109 37547109 C A SNP PPP1R16B ENST00000299824 human ensembl 74_37 +1 known missense c.1504 p.L502M 1.000 pirsf_Pase-1_reg_su_16AB_euk pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R16B HGNC ENSG00000101445 47 0 0 53 7 11.6667 CENPB 0 genome.wustl.edu 37 20 3765886 3765886 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 3765886 3765886 C T SNP CENPB ENST00000379751 human ensembl 74_37 -1 known silent c.1245 p.E415 0.722 NULL pfam_Centromere_CenpB_dimerisation,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors CENPB HGNC ENSG00000125817 10 0 0 5 2 28.5714 MAFB 0 genome.wustl.edu 37 20 39317281 39317281 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 39317281 39317281 C T SNP MAFB ENST00000373313 human ensembl 74_37 -1 known silent c.210 p.S70 0.998 NULL pfam_bZIP_Maf,pfam_Maf_TF_N,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors MAFB HGNC ENSG00000204103 85 0 0 83 14 14.433 RIMS4 0 genome.wustl.edu 37 20 43384955 43384955 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 43384955 43384955 C A SNP RIMS4 ENST00000541604 human ensembl 74_37 -1 known missense c.633 p.K211N 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RIMS4 HGNC ENSG00000101098 39 0 0 43 13 23.2143 YWHAB 0 genome.wustl.edu 37 20 43530295 43530295 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 43530295 43530295 G A SNP YWHAB ENST00000353703 human ensembl 74_37 +1 known missense c.121 p.E41K 1.000 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors YWHAB HGNC ENSG00000166913 54 0 0 57 12 17.3913 MATN4 0 genome.wustl.edu 37 20 43933003 43933003 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 43933003 43933003 C T SNP MATN4 ENST00000372754 human ensembl 74_37 -1 known missense c.508 p.A170T 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 14 0 0 10 4 28.5714 RBPJL 0 genome.wustl.edu 37 20 43945395 43945395 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 43945395 43945395 C T SNP RBPJL ENST00000372741 human ensembl 74_37 +1 known missense c.1360 p.R454C 0.102 NULL pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set - no_errors RBPJL HGNC ENSG00000124232 12 0 0 16 4 20 MMP9 0 genome.wustl.edu 37 20 44642001 44642001 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 44642001 44642001 C T SNP MMP9 ENST00000372330 human ensembl 74_37 +1 known missense c.1438 p.R480C 0.000 pfam_PT pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A - no_errors MMP9 HGNC ENSG00000100985 54 0 0 49 12 19.6721 ZMYND8 0 genome.wustl.edu 37 20 45912325 45912325 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 45912325 45912325 C T SNP ZMYND8 ENST00000536340 human ensembl 74_37 -1 known missense c.893 p.C298Y 1.000 NULL pfam_DUF3544,pfam_Bromodomain,pfam_PWWP_dom,pfam_Znf_PHD-finger,pfam_Znf_MYND,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND8 HGNC ENSG00000101040 62 0 0 62 5 7.46269 PREX1 0 genome.wustl.edu 37 20 47317313 47317313 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 47317313 47317313 C T SNP PREX1 ENST00000371941 human ensembl 74_37 -1 known missense c.895 p.V299I 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,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 PREX1 HGNC ENSG00000124126 120 0 0 100 28 21.875 STAU1 0 genome.wustl.edu 37 20 47732351 47732351 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 47732351 47732351 C A SNP STAU1 ENST00000371856 human ensembl 74_37 -1 known missense c.1686 p.E562D 1.000 NULL pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors STAU1 HGNC ENSG00000124214 184 0 0 189 42 18.1818 ZNFX1 0 genome.wustl.edu 37 20 47887640 47887640 + Nonsense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 47887640 47887640 G A SNP ZNFX1 ENST00000371752 human ensembl 74_37 -1 known nonsense c.709 p.R237* 0.977 superfamily_ARM-type_fold superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_Znf_NFX1 - no_errors ZNFX1 HGNC ENSG00000124201 83 0 0 89 29 24.5763 BCAS1 0 genome.wustl.edu 37 20 52561536 52561536 + Splice_Site SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 52561536 52561536 C T SNP BCAS1 ENST00000371440 human ensembl 74_37 -1 known splice_site c.1708-1 e10-1 1.000 - - - no_errors BCAS1 HGNC ENSG00000064787 94 0 0 105 21 16.6667 DOK5 0 genome.wustl.edu 37 20 53208299 53208299 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 53208299 53208299 G A SNP DOK5 ENST00000262593 human ensembl 74_37 +1 known missense c.554 p.R185Q 1.000 pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK5 HGNC ENSG00000101134 78 0 0 42 18 30 CASS4 0 genome.wustl.edu 37 20 55027043 55027043 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 55027043 55027043 G A SNP CASS4 ENST00000360314 human ensembl 74_37 +1 known missense c.811 p.A271T 0.000 NULL pfam_Serine_rich,pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors CASS4 HGNC ENSG00000087589 62 0 0 49 4 7.54717 GNAS 0 genome.wustl.edu 37 20 57430058 57430058 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 57430058 57430058 G A SNP GNAS ENST00000371100 human ensembl 74_37 +1 putative missense c.1738 p.E580K 0.011 NULL pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su - no_errors GNAS HGNC ENSG00000087460 14 0 0 16 4 20 GNAS 0 genome.wustl.edu 37 20 57480483 57480483 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 57480483 57480483 C T SNP GNAS ENST00000354359 human ensembl 74_37 +1 known missense c.481 p.R161C 0.998 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su - no_errors GNAS HGNC ENSG00000087460 84 0 0 82 16 16.3265 FAM217B 0 genome.wustl.edu 37 20 58519319 58519319 + Silent SNP T T G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 58519319 58519319 T G SNP FAM217B ENST00000358293 human ensembl 74_37 +1 known silent c.321 p.P107 0.885 NULL NULL - no_errors FAM217B HGNC ENSG00000196227 67 0 0 50 7 12.2807 CDH26 0 genome.wustl.edu 37 20 58559743 58559743 + Silent SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 58559743 58559743 T C SNP CDH26 ENST00000244047 human ensembl 74_37 +1 known silent c.591 p.T197 0.949 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH26 HGNC ENSG00000124215 67 0 0 64 23 26.4368 MCM8 0 genome.wustl.edu 37 20 5963723 5963723 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 5963723 5963723 A G SNP MCM8 ENST00000378886 human ensembl 74_37 +1 known missense c.1765 p.S589G 1.000 pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase - no_errors MCM8 HGNC ENSG00000125885 60 0 0 65 14 17.7215 TAF4 0 genome.wustl.edu 37 20 60551303 60551303 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 60551303 60551303 A G SNP TAF4 ENST00000252996 human ensembl 74_37 -1 known missense c.3179 p.L1060P 1.000 pfam_TAF4 pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4 HGNC ENSG00000130699 126 0 0 112 18 13.8462 TAF4 0 genome.wustl.edu 37 20 60551312 60551312 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 60551312 60551312 C T SNP TAF4 ENST00000252996 human ensembl 74_37 -1 known missense c.3170 p.R1057Q 1.000 pfam_TAF4 pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4 HGNC ENSG00000130699 143 0 0 114 20 14.9254 MTG2 0 genome.wustl.edu 37 20 60772933 60772933 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 60772933 60772933 G A SNP MTG2 ENST00000370823 human ensembl 74_37 +1 known silent c.378 p.S126 0.077 pfam_GTP1_OBG_dom,superfamily_GTP1_OBG_dom,pirsf_GTP-bd_Obg/CgtA,tigrfam_GTP-bd_Obg/CgtA pfam_GTP1_OBG_dom,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GTP1_OBG_dom,pirsf_GTP-bd_Obg/CgtA,prints_GTP_binding_domain,tigrfam_GTP-bd_Obg/CgtA,tigrfam_Small_GTP-bd_dom - no_errors MTG2 HGNC ENSG00000101181 97 0 0 92 22 19.2982 COL20A1 0 genome.wustl.edu 37 20 61944226 61944226 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 61944226 61944226 G A SNP COL20A1 ENST00000326996 human ensembl 74_37 +1 known silent c.2016 p.P672 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL20A1 HGNC ENSG00000101203 10 0 0 5 3 37.5 KCNQ2 0 genome.wustl.edu 37 20 62076149 62076149 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 62076149 62076149 C T SNP KCNQ2 ENST00000354587 human ensembl 74_37 -1 known missense c.553 p.A185T 0.998 pfam_Ion_trans_dom pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC ENSG00000075043 10 0 0 13 3 18.75 ZGPAT 0 genome.wustl.edu 37 20 62366010 62366010 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 62366010 62366010 C T SNP ZGPAT ENST00000328969 human ensembl 74_37 +1 known silent c.885 p.D295 0.016 NULL pfam_G_patch_dom,smart_Znf_CCCH,smart_G_patch_dom,pfscan_G_patch_dom - no_errors ZGPAT HGNC ENSG00000197114 223 0 0 169 44 20.6573 NPBWR2 0 genome.wustl.edu 37 20 62738071 62738071 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 62738071 62738071 G A SNP NPBWR2 ENST00000369768 human ensembl 74_37 -1 known silent c.114 p.S38 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt - no_errors NPBWR2 HGNC ENSG00000125522 53 0 0 57 20 25.974 TMX4 0 genome.wustl.edu 37 20 7963217 7963217 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 7963217 7963217 G A SNP TMX4 ENST00000246024 human ensembl 74_37 -1 known missense c.731 p.A244V 1.000 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TMX4 HGNC ENSG00000125827 33 0 0 35 10 22.2222 TMPRSS15 0 genome.wustl.edu 37 21 19701570 19701570 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 21 19701570 19701570 G A SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known missense c.1696 p.L566F 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS15 HGNC ENSG00000154646 21 0 0 28 4 12.5 ADAMTS5 0 genome.wustl.edu 37 21 28306952 28306952 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 21 28306952 28306952 A G SNP ADAMTS5 ENST00000284987 human ensembl 74_37 -1 known missense c.1522 p.C508R 1.000 smart_ADAM_Cys-rich pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ENSG00000154736 36 0 0 48 8 14.2857 KRTAP27-1 0 genome.wustl.edu 37 21 31709452 31709452 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 21 31709452 31709452 C T SNP KRTAP27-1 ENST00000382835 human ensembl 74_37 -1 known missense c.535 p.V179I 0.002 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP27-1 HGNC ENSG00000206107 50 0 0 60 9 13.0435 TIAM1 0 genome.wustl.edu 37 21 32502560 32502560 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 21 32502560 32502560 G A SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known missense c.4016 p.A1339V 1.000 smart_Pleckstrin_homology 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 184 0 0 214 23 9.70464 SCAF4 0 genome.wustl.edu 37 21 33065696 33065696 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 21 33065696 33065696 C T SNP SCAF4 ENST00000286835 human ensembl 74_37 -1 known missense c.1424 p.R475Q 0.295 NULL pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF4 HGNC ENSG00000156304 41 0 0 38 7 15.5556 SETD4 0 genome.wustl.edu 37 21 37417960 37417960 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 21 37417960 37417960 G A SNP SETD4 ENST00000332131 human ensembl 74_37 -1 known missense c.646 p.R216W 0.000 pfam_SET_dom,pirsf_Lys_MTase_YDR198C_prd pfam_Rubisco_LSMT_subst-bd,pfam_SET_dom,pirsf_Lys_MTase_YDR198C_prd - no_errors SETD4 HGNC ENSG00000185917 45 0 0 32 4 11.1111 DYRK1A 0 genome.wustl.edu 37 21 38862489 38862489 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 21 38862489 38862489 G A SNP DYRK1A ENST00000398960 human ensembl 74_37 +1 known missense c.677 p.R226H 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 DYRK1A HGNC ENSG00000157540 53 0 0 44 7 13.7255 DYRK1A 0 genome.wustl.edu 37 21 38862711 38862711 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 21 38862711 38862711 G A SNP DYRK1A ENST00000398960 human ensembl 74_37 +1 known missense c.899 p.R300H 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 DYRK1A HGNC ENSG00000157540 53 0 0 64 10 13.5135 SIK1 0 genome.wustl.edu 37 21 44838242 44838242 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 21 44838242 44838242 C T SNP SIK1 ENST00000270162 human ensembl 74_37 -1 known missense c.1642 p.A548T 0.978 pirsf_Ser/Thr_kinase_SIK1/2 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_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK1 HGNC ENSG00000142178 25 0 0 20 5 20 RRP1B 0 genome.wustl.edu 37 21 45103227 45103227 + Silent SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 21 45103227 45103227 C A SNP RRP1B ENST00000340648 human ensembl 74_37 +1 known silent c.864 p.T288 0.001 NULL pfam_Nop52 - no_errors RRP1B HGNC ENSG00000160208 50 0 0 43 8 15.6863 PWP2 0 genome.wustl.edu 37 21 45550604 45550604 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 21 45550604 45550604 A G SNP PWP2 ENST00000291576 human ensembl 74_37 +1 known missense c.2711 p.H904R 0.162 NULL pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PWP2 HGNC ENSG00000241945 81 0 0 68 10 12.8205 KRTAP10-1 0 genome.wustl.edu 37 21 45959433 45959433 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 21 45959433 45959433 G A SNP KRTAP10-1 ENST00000400375 human ensembl 74_37 -1 known missense c.601 p.P201S 0.039 NULL NULL - no_errors KRTAP10-1 HGNC ENSG00000215455 315 0 0 252 29 10.3203 KRTAP10-4 0 genome.wustl.edu 37 21 45994702 45994702 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 21 45994702 45994702 G A SNP KRTAP10-4 ENST00000400374 human ensembl 74_37 +1 known missense c.1067 p.R356K 0.294 NULL NULL - no_errors KRTAP10-4 HGNC ENSG00000215454 218 0 0 171 30 14.9254 PCBP3 0 genome.wustl.edu 37 21 47361613 47361613 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 21 47361613 47361613 C T SNP PCBP3 ENST00000400314 human ensembl 74_37 +1 known missense c.1109 p.T370M 1.000 NULL pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors PCBP3 HGNC ENSG00000183570 76 0 0 64 11 14.6667 COL6A2 0 genome.wustl.edu 37 21 47536721 47536721 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 21 47536721 47536721 G T SNP COL6A2 ENST00000300527 human ensembl 74_37 +1 known missense c.992 p.G331V 1.000 pfam_Collagen pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 35 0 0 23 6 20.6897 COL6A2 0 genome.wustl.edu 37 21 47542798 47542798 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 21 47542798 47542798 G T SNP COL6A2 ENST00000300527 human ensembl 74_37 +1 known missense c.1618 p.G540C 1.000 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 56 0 0 48 3 5.88235 PCNT 0 genome.wustl.edu 37 21 47836279 47836279 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 21 47836279 47836279 G A SNP PCNT ENST00000359568 human ensembl 74_37 +1 known silent c.6447 p.A2149 0.000 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 65 0 0 57 21 26.9231 POTEH 0 genome.wustl.edu 37 22 16287790 16287790 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 22 16287790 16287790 G A SNP POTEH ENST00000343518 human ensembl 74_37 -1 known silent c.96 p.F32 0.002 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEH HGNC ENSG00000198062 120 0 0 70 50 41.6667 DGCR2 0 genome.wustl.edu 37 22 19052574 19052574 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 22 19052574 19052574 A G SNP DGCR2 ENST00000263196 human ensembl 74_37 -1 known missense c.335 p.L112P 1.000 NULL pfam_LDrepeatLR_classA_rpt,superfamily_C-type_lectin_fold,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_C-type_lectin,smart_VWF_C,pfscan_LDrepeatLR_classA_rpt,pfscan_C-type_lectin - no_errors DGCR2 HGNC ENSG00000070413 23 0 0 19 6 24 SEPT5 0 genome.wustl.edu 37 22 19707945 19707945 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 22 19707945 19707945 C T SNP SEPT5 ENST00000383045 human ensembl 74_37 +1 known silent c.492 p.C164 1.000 pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT5 HGNC ENSG00000184702 92 0 0 66 4 5.71429 DGCR8 0 genome.wustl.edu 37 22 20097586 20097586 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 22 20097586 20097586 G A SNP DGCR8 ENST00000351989 human ensembl 74_37 +1 known silent c.2277 p.A759 0.807 NULL pfam_dsRNA-bd_dom,superfamily_WW_dom,smart_WW_dom,smart_dsRNA-bd_dom,pfscan_WW_dom,pfscan_dsRNA-bd_dom - no_errors DGCR8 HGNC ENSG00000128191 63 0 0 55 17 23.6111 TRMT2A 0 genome.wustl.edu 37 22 20100532 20100532 + Splice_Site SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 22 20100532 20100532 T C SNP TRMT2A ENST00000252136 human ensembl 74_37 -1 known splice_site c.1550-2 e11-2 0.999 - - - no_errors TRMT2A HGNC ENSG00000099899 70 0 0 63 20 24.0964 ZNF74 0 genome.wustl.edu 37 22 20760918 20760918 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 22 20760918 20760918 A G SNP ZNF74 ENST00000356671 human ensembl 74_37 +1 known missense c.1595 p.E532G 0.430 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF74 HGNC ENSG00000185252 79 0 0 103 8 7.20721 SMPD4P1 0 genome.wustl.edu 37 22 20975877 20975877 + RNA SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 22 20975877 20975877 C T SNP SMPD4P1 ENST00000443839 human ensembl 74_37 -1 known rna NULL NULL 0.765 - - - no_errors SMPD4P1 HGNC ENSG00000223553 15 0 0 13 3 18.75 PI4KA 0 genome.wustl.edu 37 22 21159385 21159385 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 22 21159385 21159385 C T SNP PI4KA ENST00000255882 human ensembl 74_37 -1 known missense c.1237 p.E413K 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 54 0 0 61 6 8.95522 CABIN1 0 genome.wustl.edu 37 22 24560440 24560440 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 22 24560440 24560440 G A SNP CABIN1 ENST00000263119 human ensembl 74_37 +1 known missense c.4819 p.V1607M 1.000 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 94 0 0 87 15 14.7059 CRYBB2 0 genome.wustl.edu 37 22 25627692 25627692 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 22 25627692 25627692 C T SNP CRYBB2 ENST00000398215 human ensembl 74_37 +1 known missense c.571 p.R191C 1.000 superfamily_G_crystallin-rel,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 CRYBB2 HGNC ENSG00000244752 99 0 0 78 10 11.3636 LRP5L 0 genome.wustl.edu 37 22 25750563 25750563 + Nonsense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 22 25750563 25750563 C A SNP LRP5L ENST00000402785 human ensembl 74_37 -1 known nonsense c.655 p.G219* 0.995 NULL pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5L HGNC ENSG00000100068 57 0 0 43 15 25.8621 TFIP11 0 genome.wustl.edu 37 22 26888314 26888314 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 22 26888314 26888314 C T SNP TFIP11 ENST00000405938 human ensembl 74_37 -1 known missense c.2179 p.A727T 1.000 NULL pfam_GCFC_dom,pfam_TIP_N,pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors TFIP11 HGNC ENSG00000100109 128 0 0 114 22 16.1765 MN1 0 genome.wustl.edu 37 22 28194071 28194071 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 22 28194071 28194071 C T SNP MN1 ENST00000302326 human ensembl 74_37 -1 known missense c.2461 p.G821S 1.000 NULL NULL - no_errors MN1 HGNC ENSG00000169184 64 0 0 40 21 34.4262 AP1B1 0 genome.wustl.edu 37 22 29747754 29747754 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 22 29747754 29747754 G A SNP AP1B1 ENST00000357586 human ensembl 74_37 -1 known silent c.999 p.Y333 0.971 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4 - no_errors AP1B1 HGNC ENSG00000100280 40 0 0 28 10 26.3158 NF2 0 genome.wustl.edu 37 22 30069367 30069367 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 22 30069367 30069367 G A SNP NF2 ENST00000338641 human ensembl 74_37 +1 known missense c.1232 p.R411H 1.000 pirsf_ERM,pfam_ERM_C_dom pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,prints_Tropomyosin - no_errors NF2 HGNC ENSG00000186575 8 0 0 13 2 13.3333 TCN2 0 genome.wustl.edu 37 22 31011453 31011453 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 22 31011453 31011453 C T SNP TCN2 ENST00000215838 human ensembl 74_37 +1 known missense c.746 p.A249V 0.991 pfam_Cbl-bd_transpt_euk,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_Cbl-bd_transpt_euk,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors TCN2 HGNC ENSG00000185339 58 0 0 52 6 10.3448 DEPDC5 0 genome.wustl.edu 37 22 32217539 32217539 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 22 32217539 32217539 C T SNP DEPDC5 ENST00000266091 human ensembl 74_37 +1 known missense c.1922 p.A641V 0.989 NULL pfam_IML1,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC ENSG00000100150 240 0 0 188 42 18.2609 SLC5A4 0 genome.wustl.edu 37 22 32628914 32628914 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 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 85 0 0 73 30 29.1262 HMGXB4 0 genome.wustl.edu 37 22 35680012 35680012 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 22 35680012 35680012 A G SNP HMGXB4 ENST00000216106 human ensembl 74_37 +1 known missense c.1273 p.I425V 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors HMGXB4 HGNC ENSG00000100281 97 0 0 74 18 19.5652 CSF2RB 0 genome.wustl.edu 37 22 37334428 37334428 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 22 37334428 37334428 C T SNP CSF2RB ENST00000262825 human ensembl 74_37 +1 known missense c.2596 p.P866S 0.304 pirsf_IL3_rcpt_beta pirsf_IL3_rcpt_beta,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF2RB HGNC ENSG00000100368 101 0 0 99 33 25 SSTR3 0 genome.wustl.edu 37 22 37603287 37603287 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 22 37603287 37603287 G A SNP SSTR3 ENST00000328544 human ensembl 74_37 -1 known missense c.556 p.R186C 0.348 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_3 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_3,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Somatstn_rcpt_5,prints_Neuropept_B/W_rcpt - no_errors SSTR3 HGNC ENSG00000183473 12 0 0 12 3 20 ELFN2 0 genome.wustl.edu 37 22 37769212 37769212 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 22 37769212 37769212 G A SNP ELFN2 ENST00000402918 human ensembl 74_37 -1 known missense c.2363 p.A788V 1.000 NULL superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG_anchor - no_errors ELFN2 HGNC ENSG00000166897 87 0 0 73 25 25.5102 ELFN2 0 genome.wustl.edu 37 22 37769986 37769986 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 22 37769986 37769986 G A SNP ELFN2 ENST00000402918 human ensembl 74_37 -1 known missense c.1589 p.S530L 0.998 NULL superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG_anchor - no_errors ELFN2 HGNC ENSG00000166897 106 0 0 99 14 12.3894 GGA1 0 genome.wustl.edu 37 22 38028140 38028140 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 22 38028140 38028140 C T SNP GGA1 ENST00000343632 human ensembl 74_37 +1 known missense c.1666 p.R556C 0.987 pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA1 HGNC ENSG00000100083 66 0 0 49 15 23.4375 MAFF 0 genome.wustl.edu 37 22 38610474 38610474 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 22 38610474 38610474 G A SNP MAFF ENST00000338483 human ensembl 74_37 +1 known silent c.84 p.A28 1.000 pfam_bZIP_Maf,superfamily_TF_DNA-bd pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors MAFF HGNC ENSG00000185022 35 0 0 30 8 21.0526 TMEM184B 0 genome.wustl.edu 37 22 38617444 38617444 + RNA SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 22 38617444 38617444 G A SNP TMEM184B ENST00000504337 human ensembl 74_37 -1 putative rna NULL NULL 0.002 - - - no_errors TMEM184B HGNC ENSG00000198792 17 0 0 17 2 10.5263 SUN2 0 genome.wustl.edu 37 22 39135767 39135767 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 22 39135767 39135767 A G SNP SUN2 ENST00000216064 human ensembl 74_37 -1 known missense c.1538 p.L513P 0.029 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUN2 HGNC ENSG00000100242 56 0 0 62 8 11.4286 EP300 0 genome.wustl.edu 37 22 41513540 41513540 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 22 41513540 41513540 G A SNP EP300 ENST00000263253 human ensembl 74_37 +1 known silent c.444 p.T148 0.115 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 44 0 0 45 8 15.0943 PACSIN2 0 genome.wustl.edu 37 22 43289531 43289531 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 22 43289531 43289531 C T SNP PACSIN2 ENST00000263246 human ensembl 74_37 -1 known missense c.149 p.R50H 1.000 pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PACSIN2 HGNC ENSG00000100266 53 0 0 46 9 16.3636 SMC1B 0 genome.wustl.edu 37 22 45758880 45758880 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 22 45758880 45758880 C T SNP SMC1B ENST00000357450 human ensembl 74_37 -1 known missense c.2447 p.R816Q 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_t-SNARE,smart_SMC_hinge - no_errors SMC1B HGNC ENSG00000077935 16 0 0 14 4 22.2222 CELSR1 0 genome.wustl.edu 37 22 46768944 46768944 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 22 46768944 46768944 G A SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known missense c.7595 p.T2532I 0.970 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-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 13 0 0 9 6 40 MOV10L1 0 genome.wustl.edu 37 22 50552165 50552165 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 22 50552165 50552165 C T SNP MOV10L1 ENST00000262794 human ensembl 74_37 +1 known missense c.832 p.H278Y 0.011 NULL superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold - no_errors MOV10L1 HGNC ENSG00000073146 58 0 0 81 13 13.8298 TRABD 0 genome.wustl.edu 37 22 50636423 50636423 + Missense_Mutation SNP C C G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 22 50636423 50636423 C G SNP TRABD ENST00000303434 human ensembl 74_37 +1 known missense c.843 p.D281E 0.961 pfam_Pheromone_shutdown_TraB pfam_Pheromone_shutdown_TraB - no_errors TRABD HGNC ENSG00000170638 28 0 0 44 7 13.7255 TUBGCP6 0 genome.wustl.edu 37 22 50658094 50658094 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 22 50658094 50658094 G T SNP TUBGCP6 ENST00000248846 human ensembl 74_37 -1 known missense c.4294 p.P1432T 0.991 pfam_TUBGCP pfam_TUBGCP - no_errors TUBGCP6 HGNC ENSG00000128159 74 0 0 66 20 23.2558 NXPE3 0 genome.wustl.edu 37 3 101540395 101540395 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 101540395 101540395 C T SNP NXPE3 ENST00000273347 human ensembl 74_37 +1 known missense c.1277 p.A426V 1.000 NULL pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE3 HGNC ENSG00000144815 35 0 0 21 4 16 MYH15 0 genome.wustl.edu 37 3 108163557 108163557 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 108163557 108163557 C A SNP MYH15 ENST00000273353 human ensembl 74_37 -1 known missense c.2645 p.R882M 0.955 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 57 0 0 76 14 15.5556 DZIP3 0 genome.wustl.edu 37 3 108363261 108363261 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 108363261 108363261 G A SNP DZIP3 ENST00000361582 human ensembl 74_37 +1 known silent c.1392 p.Q464 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DZIP3 HGNC ENSG00000198919 106 0 0 91 21 18.75 DPPA2 0 genome.wustl.edu 37 3 109028172 109028172 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 109028172 109028172 G T SNP DPPA2 ENST00000478945 human ensembl 74_37 -1 known missense c.187 p.L63I 0.001 NULL pfscan_SAP_dom - no_errors DPPA2 HGNC ENSG00000163530 62 0 0 53 12 18.4615 ZBTB20 0 genome.wustl.edu 37 3 114069728 114069728 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 114069728 114069728 C T SNP ZBTB20 ENST00000474710 human ensembl 74_37 -1 known silent c.1197 p.A399 0.004 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ENSG00000181722 63 0 0 59 5 7.8125 TIMMDC1 0 genome.wustl.edu 37 3 119236144 119236144 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 119236144 119236144 A G SNP TIMMDC1 ENST00000494664 human ensembl 74_37 +1 known missense c.689 p.E230G 0.022 NULL pfam_Tim17/Tim22/Tim23/PMP24 - no_errors TIMMDC1 HGNC ENSG00000113845 108 0 0 89 16 15.2381 POLQ 0 genome.wustl.edu 37 3 121187159 121187159 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 121187159 121187159 T C SNP POLQ ENST00000264233 human ensembl 74_37 -1 known missense c.6838 p.M2280V 0.000 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 76 0 0 58 13 18.3099 GOLGB1 0 genome.wustl.edu 37 3 121416064 121416064 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 121416064 121416064 C T SNP GOLGB1 ENST00000340645 human ensembl 74_37 -1 known missense c.3291 p.M1097I 1.000 superfamily_Prefoldin superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 69 0 0 90 13 12.6214 SLC15A2 0 genome.wustl.edu 37 3 121641106 121641106 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 121641106 121641106 C T SNP SLC15A2 ENST00000489711 human ensembl 74_37 +1 known missense c.737 p.P246L 1.000 pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport - no_errors SLC15A2 HGNC ENSG00000163406 74 0 0 69 12 14.8148 MYLK 0 genome.wustl.edu 37 3 123333139 123333139 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 123333139 123333139 C T SNP MYLK ENST00000360304 human ensembl 74_37 -1 known missense c.5558 p.R1853H 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_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 82 0 0 60 19 24.0506 KALRN 0 genome.wustl.edu 37 3 124201667 124201667 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 124201667 124201667 C T SNP KALRN ENST00000360013 human ensembl 74_37 +1 known missense c.4198 p.R1400W 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 107 1 0.925926 89 21 19.0909 ITGB5 0 genome.wustl.edu 37 3 124485176 124485176 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 124485176 124485176 C A SNP ITGB5 ENST00000296181 human ensembl 74_37 -1 known missense c.2034 p.E678D 0.950 pirsf_Integrin_bsu,pfam_Integrin_bsu_tail,superfamily_Integrin_bsu_tail pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_VWF_A,prints_Integrin_bsu - no_errors ITGB5 HGNC ENSG00000082781 101 0 0 86 13 13.1313 HEG1 0 genome.wustl.edu 37 3 124731613 124731613 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 124731613 124731613 T C SNP HEG1 ENST00000311127 human ensembl 74_37 -1 known missense c.2810 p.Y937C 0.000 NULL pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HEG1 HGNC ENSG00000173706 37 0 0 24 6 20 SNX4 0 genome.wustl.edu 37 3 125216990 125216990 + Nonsense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 125216990 125216990 C T SNP SNX4 ENST00000251775 human ensembl 74_37 -1 known nonsense c.312 p.W104* 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX4 HGNC ENSG00000114520 51 0 0 53 3 5.35714 KLF15 0 genome.wustl.edu 37 3 126062715 126062715 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 126062715 126062715 G A SNP KLF15 ENST00000296233 human ensembl 74_37 -1 known missense c.1106 p.S369L 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF15 HGNC ENSG00000163884 15 0 0 12 3 20 RAF1 0 genome.wustl.edu 37 3 12633207 12633207 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 12633207 12633207 C A SNP RAF1 ENST00000442415 human ensembl 74_37 -1 known missense c.1253 p.R418L 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_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors RAF1 HGNC ENSG00000132155 63 0 0 47 13 21.6667 RPN1 0 genome.wustl.edu 37 3 128339335 128339335 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 128339335 128339335 C T SNP RPN1 ENST00000296255 human ensembl 74_37 -1 known silent c.1743 p.T581 0.001 NULL pfam_Ribophorin_I - no_errors RPN1 HGNC ENSG00000163902 68 0 0 58 18 23.6842 IFT122 0 genome.wustl.edu 37 3 129239022 129239022 + Missense_Mutation SNP T T G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 129239022 129239022 T G SNP IFT122 ENST00000296266 human ensembl 74_37 +1 known missense c.3793 p.F1265V 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT122 HGNC ENSG00000163913 25 0 0 24 5 17.2414 IQSEC1 0 genome.wustl.edu 37 3 12977201 12977201 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 12977201 12977201 C A SNP IQSEC1 ENST00000273221 human ensembl 74_37 -1 known missense c.1357 p.G453C 1.000 NULL pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC1 HGNC ENSG00000144711 43 0 0 39 5 11.3636 NEK11 0 genome.wustl.edu 37 3 130992390 130992390 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 130992390 130992390 G A SNP NEK11 ENST00000383366 human ensembl 74_37 +1 known missense c.1690 p.A564T 0.952 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK11 HGNC ENSG00000114670 63 0 0 45 12 21.0526 NUDT16 0 genome.wustl.edu 37 3 131102097 131102097 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 131102097 131102097 C T SNP NUDT16 ENST00000521288 human ensembl 74_37 +1 known missense c.500 p.A167V 0.493 superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT16 HGNC ENSG00000198585 56 0 0 24 15 38.4615 SLCO2A1 0 genome.wustl.edu 37 3 133698394 133698394 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 133698394 133698394 G A SNP SLCO2A1 ENST00000310926 human ensembl 74_37 -1 known silent c.165 p.S55 1.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO2A1 HGNC ENSG00000174640 65 0 0 60 4 6.25 EPHB1 0 genome.wustl.edu 37 3 134884866 134884866 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 134884866 134884866 G A SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known missense c.1642 p.A548T 1.000 pirsf_Tyr_kinase_ephrin_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB1 HGNC ENSG00000154928 152 0 0 121 26 17.6871 MSL2 0 genome.wustl.edu 37 3 135871374 135871374 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 135871374 135871374 G A SNP MSL2 ENST00000309993 human ensembl 74_37 -1 known missense c.349 p.R117W 1.000 NULL pfscan_Znf_RING - no_errors MSL2 HGNC ENSG00000174579 116 0 0 117 22 15.8273 FBLN2 0 genome.wustl.edu 37 3 13612535 13612535 + Missense_Mutation SNP G G C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 13612535 13612535 G C SNP FBLN2 ENST00000404922 human ensembl 74_37 +1 known missense c.680 p.G227A 0.000 NULL pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_comp_syst,smart_EG-like_dom,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd_dom,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN2 HGNC ENSG00000163520 10 0 0 2 4 66.6667 ZIC1 0 genome.wustl.edu 37 3 147127972 147127972 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 147127972 147127972 G A SNP ZIC1 ENST00000282928 human ensembl 74_37 +1 known missense c.73 p.A25T 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC1 HGNC ENSG00000152977 59 0 0 44 4 8.33333 ZIC1 0 genome.wustl.edu 37 3 147128612 147128612 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 147128612 147128612 C A SNP ZIC1 ENST00000282928 human ensembl 74_37 +1 known missense c.713 p.P238H 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC1 HGNC ENSG00000152977 30 0 0 33 8 19.5122 NR2C2 0 genome.wustl.edu 37 3 15057748 15057748 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 15057748 15057748 C T SNP NR2C2 ENST00000323373 human ensembl 74_37 +1 known silent c.420 p.G140 0.339 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR2C2 HGNC ENSG00000177463 71 0 0 70 13 15.6627 HACL1 0 genome.wustl.edu 37 3 15637913 15637913 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 15637913 15637913 C T SNP HACL1 ENST00000321169 human ensembl 74_37 -1 known missense c.205 p.A69T 0.031 pfam_Thiamin_PyroP_enz_TPP-bd_dom pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_Thiamin_PyroP_enz_cen_dom,pfam_TPP_enzyme-bd_C,pfam_CO_DH_CoA_synth - no_errors HACL1 HGNC ENSG00000131373 69 0 0 38 7 15.5556 TIPARP 0 genome.wustl.edu 37 3 156422868 156422868 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 156422868 156422868 A G SNP TIPARP ENST00000295924 human ensembl 74_37 +1 known missense c.1922 p.Y641C 1.000 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors TIPARP HGNC ENSG00000163659 70 0 0 73 19 20.6522 IFT80 0 genome.wustl.edu 37 3 160018781 160018781 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 160018781 160018781 C T SNP IFT80 ENST00000483754 human ensembl 74_37 -1 known missense c.1718 p.R573H 0.805 superfamily_WD40_repeat_dom pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RP11-432B6.3 Clone_based_vega_gene ENSG00000248710 43 0 0 48 8 14.2857 PHC3 0 genome.wustl.edu 37 3 169896574 169896574 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 169896574 169896574 C T SNP PHC3 ENST00000495893 human ensembl 74_37 -1 known missense c.167 p.R56Q 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC3 HGNC ENSG00000173889 232 0 0 195 30 13.3333 SLC7A14 0 genome.wustl.edu 37 3 170201192 170201192 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 170201192 170201192 C T SNP SLC7A14 ENST00000231706 human ensembl 74_37 -1 known silent c.1026 p.S342 0.000 pfam_AA-permease/SLC12A_dom pfam_AA-permease/SLC12A_dom - no_errors SLC7A14 HGNC ENSG00000013293 90 0 0 90 19 17.4312 FNDC3B 0 genome.wustl.edu 37 3 171965513 171965513 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 171965513 171965513 C T SNP FNDC3B ENST00000336824 human ensembl 74_37 +1 known missense c.455 p.P152L 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3B HGNC ENSG00000075420 118 0 0 112 31 21.6783 PIK3CA 0 genome.wustl.edu 37 3 178916891 178916891 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 178916891 178916891 G A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.278 p.R93Q 1.000 pfam_PI3K_adapt-bd_dom,smart_PI3K_adapt-bd_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 66 0 0 59 14 19.1781 MFN1 0 genome.wustl.edu 37 3 179076708 179076708 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 179076708 179076708 A G SNP MFN1 ENST00000263969 human ensembl 74_37 +1 known missense c.329 p.N110S 1.000 pfam_Dynamin_GTPase,superfamily_P-loop_NTPase pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors MFN1 HGNC ENSG00000171109 74 0 0 59 16 21.3333 LAMP3 0 genome.wustl.edu 37 3 182870290 182870290 + Missense_Mutation SNP A A C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 182870290 182870290 A C SNP LAMP3 ENST00000265598 human ensembl 74_37 -1 known missense c.761 p.V254G 0.935 pfam_Lysosome-assoc_membr_glycop pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop - no_errors LAMP3 HGNC ENSG00000078081 167 0 0 137 38 21.7143 MCF2L2 0 genome.wustl.edu 37 3 183041028 183041028 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 183041028 183041028 G T SNP MCF2L2 ENST00000328913 human ensembl 74_37 -1 known missense c.598 p.R200S 1.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2L2 HGNC ENSG00000053524 88 0 0 82 18 18 SENP2 0 genome.wustl.edu 37 3 185330412 185330412 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 185330412 185330412 A G SNP SENP2 ENST00000296257 human ensembl 74_37 +1 known missense c.835 p.R279G 1.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP2 HGNC ENSG00000163904 32 0 0 34 2 5.55556 ATP13A4 0 genome.wustl.edu 37 3 193220287 193220287 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 193220287 193220287 G T SNP ATP13A4 ENST00000342695 human ensembl 74_37 -1 known missense c.376 p.L126I 0.997 pfam_ATPase_P-typ_Cation_typ_V,tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A4 HGNC ENSG00000127249 75 0 0 79 13 14.1304 MUC20 0 genome.wustl.edu 37 3 195452850 195452850 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 195452850 195452850 C T SNP MUC20 ENST00000447234 human ensembl 74_37 +1 known missense c.1376 p.P459L 0.000 NULL NULL - no_errors MUC20 HGNC ENSG00000176945 32 0 0 20 4 16.6667 MUC4 0 genome.wustl.edu 37 3 195495991 195495991 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 195495991 195495991 G A SNP MUC4 ENST00000470451 human ensembl 74_37 -1 known missense c.13199 p.T4400M 0.943 NULL NULL - no_errors MUC4 HGNC ENSG00000145113 31 0 0 27 6 18.1818 SGOL1 0 genome.wustl.edu 37 3 20215770 20215770 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 20215770 20215770 T C SNP SGOL1 ENST00000263753 human ensembl 74_37 -1 known missense c.1253 p.E418G 0.025 NULL pfam_Shugoshin_N,pfam_Shugoshin_C - no_errors SGOL1 HGNC ENSG00000129810 92 0 0 82 31 27.4336 DCLK3 0 genome.wustl.edu 37 3 36759617 36759617 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 36759617 36759617 A G SNP DCLK3 ENST00000416516 human ensembl 74_37 -1 known missense c.1637 p.L546P 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 DCLK3 HGNC ENSG00000163673 268 0 0 203 34 14.346 TRANK1 0 genome.wustl.edu 37 3 36887887 36887887 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 36887887 36887887 G A SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known silent c.4911 p.N1637 0.994 superfamily_P-loop_NTPase pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 31 0 0 27 7 20.5882 ZNF852 0 genome.wustl.edu 37 3 44542042 44542042 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 44542042 44542042 C T SNP ZNF852 ENST00000436261 human ensembl 74_37 -1 known missense c.227 p.G76E 0.002 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 ZNF852 HGNC ENSG00000178917 40 0 0 38 6 13.6364 TGM4 0 genome.wustl.edu 37 3 44943120 44943120 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 44943120 44943120 G T SNP TGM4 ENST00000296125 human ensembl 74_37 +1 known missense c.762 p.Q254H 0.998 pfam_Transglutaminase-like pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM4 HGNC ENSG00000163810 65 0 0 39 16 29.0909 CDCP1 0 genome.wustl.edu 37 3 45132848 45132848 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 45132848 45132848 C T SNP CDCP1 ENST00000296129 human ensembl 74_37 -1 known missense c.1810 p.A604T 0.968 NULL superfamily_CUB_dom - no_errors CDCP1 HGNC ENSG00000163814 60 0 0 49 3 5.76923 SLC6A20 0 genome.wustl.edu 37 3 45817323 45817323 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 45817323 45817323 G A SNP SLC6A20 ENST00000358525 human ensembl 74_37 -1 known missense c.512 p.A171V 0.984 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A20 HGNC ENSG00000163817 136 0 0 79 32 28.8288 NBEAL2 0 genome.wustl.edu 37 3 47030391 47030391 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 47030391 47030391 C T SNP NBEAL2 ENST00000450053 human ensembl 74_37 +1 known missense c.200 p.A67V 0.979 NULL 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 42 0 0 61 10 14.0845 SETD2 0 genome.wustl.edu 37 3 47098794 47098794 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 47098794 47098794 C T SNP SETD2 ENST00000409792 human ensembl 74_37 -1 known silent c.6480 p.P2160 0.627 NULL pfam_SRI,pfam_SET_dom,pfam_WW_dom,superfamily_WW_dom,superfamily_Ferritin-like_SF,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_dom,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_dom - no_errors SETD2 HGNC ENSG00000181555 170 0 0 165 25 13.1579 PTPN23 0 genome.wustl.edu 37 3 47454478 47454478 + Missense_Mutation SNP C C G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 47454478 47454478 C G SNP PTPN23 ENST00000265562 human ensembl 74_37 +1 known missense c.4714 p.P1572A 0.990 NULL pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN23 HGNC ENSG00000076201 10 0 0 7 4 36.3636 SCAP 0 genome.wustl.edu 37 3 47459936 47459936 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 47459936 47459936 G A SNP SCAP ENST00000265565 human ensembl 74_37 -1 known missense c.2206 p.R736C 0.562 NULL pfam_Patched,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_SSD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SCAP HGNC ENSG00000114650 9 0 0 14 3 17.6471 DHX30 0 genome.wustl.edu 37 3 47860732 47860732 + RNA SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 47860732 47860732 C T SNP DHX30 ENST00000476446 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DHX30 HGNC ENSG00000132153 118 0 0 90 29 24.3697 ITPR1 0 genome.wustl.edu 37 3 4859858 4859858 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 4859858 4859858 G A SNP ITPR1 ENST00000302640 human ensembl 74_37 +1 known missense c.7915 p.V2639I 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 23 0 0 24 5 17.2414 COL7A1 0 genome.wustl.edu 37 3 48606837 48606837 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 48606837 48606837 G A SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known missense c.7657 p.R2553W 0.995 pfam_Collagen pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 109 0 0 79 16 16.8421 CELSR3 0 genome.wustl.edu 37 3 48683692 48683692 + Splice_Site SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 48683692 48683692 T C SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known splice_site c.7311-2 e23-2 1.000 - - - no_errors CELSR3 HGNC ENSG00000008300 40 0 0 44 10 18.5185 CELSR3 0 genome.wustl.edu 37 3 48697513 48697513 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 48697513 48697513 T C SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known missense c.2555 p.N852S 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 162 0 0 148 33 18.232 CELSR3 0 genome.wustl.edu 37 3 48699725 48699725 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 48699725 48699725 C T SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known missense c.343 p.V115I 0.000 NULL pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 181 0 0 133 47 26.1111 NCKIPSD 0 genome.wustl.edu 37 3 48717524 48717524 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 48717524 48717524 G A SNP NCKIPSD ENST00000294129 human ensembl 74_37 -1 known missense c.1231 p.R411C 1.000 NULL pfam_DUF2013,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NCKIPSD HGNC ENSG00000213672 58 0 0 73 15 17.0455 PRKAR2A 0 genome.wustl.edu 37 3 48789613 48789613 + Nonsense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 48789613 48789613 G T SNP PRKAR2A ENST00000265563 human ensembl 74_37 -1 known nonsense c.1077 p.C359* 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin - no_errors PRKAR2A HGNC ENSG00000114302 29 0 0 27 6 18.1818 ARIH2OS 0 genome.wustl.edu 37 3 48956333 48956333 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 48956333 48956333 G A SNP ARIH2OS ENST00000408959 human ensembl 74_37 -1 known missense c.250 p.R84W 0.931 NULL NULL - no_errors ARIH2OS HGNC ENSG00000221883 8 0 0 11 4 26.6667 DAG1 0 genome.wustl.edu 37 3 49568441 49568441 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 49568441 49568441 C T SNP DAG1 ENST00000308775 human ensembl 74_37 +1 known missense c.497 p.S166L 0.995 NULL pfam_DAG1,superfamily_Alpha-dystroglycan_domain_2,superfamily_Cadherin-like,smart_Cadg - no_errors DAG1 HGNC ENSG00000173402 48 0 0 56 6 9.67742 BSN 0 genome.wustl.edu 37 3 49699943 49699943 + Silent SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 49699943 49699943 T C SNP BSN ENST00000296452 human ensembl 74_37 +1 known silent c.10665 p.R3555 0.860 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 87 0 0 54 14 20.5882 AMIGO3 0 genome.wustl.edu 37 3 49756465 49756465 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 49756465 49756465 A G SNP AMIGO3 ENST00000320431 human ensembl 74_37 -1 known missense c.434 p.L145S 0.998 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors AMIGO3 HGNC ENSG00000176020 119 0 0 119 23 16.1972 GNAT1 0 genome.wustl.edu 37 3 50231210 50231210 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 50231210 50231210 G A SNP GNAT1 ENST00000232461 human ensembl 74_37 +1 known silent c.474 p.L158 1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAT1 HGNC ENSG00000114349 18 0 0 13 5 27.7778 CYB561D2 0 genome.wustl.edu 37 3 50388931 50388931 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 50388931 50388931 G A SNP CYB561D2 ENST00000232508 human ensembl 74_37 +1 known missense c.67 p.A23T 0.988 pfscan_Cyt_b561/ferric_Rdtase_TM pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM - no_errors CYB561D2 HGNC ENSG00000114395 71 0 0 52 10 16.129 ACY1 0 genome.wustl.edu 37 3 52021073 52021073 + Missense_Mutation SNP A A C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 52021073 52021073 A C SNP ACY1 ENST00000458031 human ensembl 74_37 +1 known missense c.923 p.K308T 1.000 pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,tigrfam_N-acyl_aa_amidohydrolase pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,tigrfam_N-acyl_aa_amidohydrolase - no_errors ACY1 HGNC ENSG00000243989 61 0 0 63 12 16 ALAS1 0 genome.wustl.edu 37 3 52237967 52237967 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 52237967 52237967 C T SNP ALAS1 ENST00000310271 human ensembl 74_37 +1 known silent c.516 p.D172 0.323 NULL pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,tigrfam_4pyrrol_synth_NH2levulA_synth - no_errors ALAS1 HGNC ENSG00000023330 62 0 0 60 15 20 NISCH 0 genome.wustl.edu 37 3 52524132 52524132 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 52524132 52524132 G A SNP NISCH ENST00000345716 human ensembl 74_37 +1 known silent c.3498 p.V1166 0.971 NULL pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors NISCH HGNC ENSG00000010322 47 0 0 32 3 8.57143 GNL3 0 genome.wustl.edu 37 3 52728093 52728093 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 52728093 52728093 A G SNP GNL3 ENST00000418458 human ensembl 74_37 +1 known missense c.1541 p.E514G 0.000 NULL pfam_Gnl3_N_dom,pfam_GTP_binding_domain,superfamily_P-loop_NTPase - no_errors GNL3 HGNC ENSG00000163938 65 0 0 53 6 10.1695 SFMBT1 0 genome.wustl.edu 37 3 52962301 52962301 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 52962301 52962301 G A SNP SFMBT1 ENST00000358080 human ensembl 74_37 -1 known silent c.954 p.H318 0.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT1 HGNC ENSG00000163935 107 0 0 95 6 5.94059 PRKCD 0 genome.wustl.edu 37 3 53223077 53223077 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 53223077 53223077 C A SNP PRKCD ENST00000330452 human ensembl 74_37 +1 known missense c.1558 p.L520I 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,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors PRKCD HGNC ENSG00000163932 23 0 0 20 3 13.0435 CCDC66 0 genome.wustl.edu 37 3 56600714 56600714 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 56600714 56600714 G A SNP CCDC66 ENST00000394672 human ensembl 74_37 +1 known missense c.637 p.V213I 0.000 NULL NULL - no_errors CCDC66 HGNC ENSG00000180376 51 0 0 62 4 6.06061 FAM208A 0 genome.wustl.edu 37 3 56658877 56658877 + Nonsense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 56658877 56658877 G A SNP FAM208A ENST00000355628 human ensembl 74_37 -1 known nonsense c.4114 p.R1372* 0.986 NULL pfam_DUF3715 - no_errors FAM208A HGNC ENSG00000163946 59 0 0 68 14 17.0732 IL17RD 0 genome.wustl.edu 37 3 57132009 57132009 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 57132009 57132009 G A SNP IL17RD ENST00000296318 human ensembl 74_37 -1 known silent c.1722 p.Y574 0.982 NULL pfam_SEFIR,superfamily_TIR_dom - no_errors IL17RD HGNC ENSG00000144730 32 0 0 33 3 8.33333 CADPS 0 genome.wustl.edu 37 3 62518693 62518693 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 62518693 62518693 T C SNP CADPS ENST00000383710 human ensembl 74_37 -1 known missense c.2144 p.Y715C 1.000 NULL pfam_Ca-dep_secretion_activator,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC ENSG00000163618 67 0 0 77 13 14.4444 MAGI1 0 genome.wustl.edu 37 3 65344780 65344780 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 65344780 65344780 C T SNP MAGI1 ENST00000330909 human ensembl 74_37 -1 known missense c.3766 p.G1256R 1.000 NULL pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI1 HGNC ENSG00000151276 229 0 0 188 32 14.5455 FOXP1 0 genome.wustl.edu 37 3 71096238 71096238 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 71096238 71096238 C A SNP FOXP1 ENST00000318789 human ensembl 74_37 -1 known missense c.519 p.Q173H 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXP1 HGNC ENSG00000114861 67 0 0 68 6 8.10811 CAMK1 0 genome.wustl.edu 37 3 9803194 9803194 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 9803194 9803194 A G SNP CAMK1 ENST00000256460 human ensembl 74_37 -1 known missense c.583 p.Y195H 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 CAMK1 HGNC ENSG00000134072 76 0 0 81 7 7.95455 COL8A1 0 genome.wustl.edu 37 3 99514656 99514656 + Silent SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 99514656 99514656 A G SNP COL8A1 ENST00000261037 human ensembl 74_37 +1 known silent c.1911 p.K637 0.904 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A1 HGNC ENSG00000144810 52 0 0 42 13 23.6364 IL17RC 0 genome.wustl.edu 37 3 9969997 9969997 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 9969997 9969997 G A SNP IL17RC ENST00000295981 human ensembl 74_37 +1 known missense c.1099 p.A367T 0.354 NULL pfam_SEFIR - no_errors IL17RC HGNC ENSG00000163702 81 0 0 74 10 11.9048 ELOVL6 0 genome.wustl.edu 37 4 110972636 110972636 + Nonsense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 110972636 110972636 C T SNP ELOVL6 ENST00000394607 human ensembl 74_37 -1 known nonsense c.656 p.W219* 1.000 pfam_GNS1_SUR4 pfam_GNS1_SUR4 - no_errors ELOVL6 HGNC ENSG00000170522 95 0 0 67 12 15.1899 PRDM5 0 genome.wustl.edu 37 4 121719471 121719471 + Missense_Mutation SNP A A C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 121719471 121719471 A C SNP PRDM5 ENST00000264808 human ensembl 74_37 -1 known missense c.1139 p.L380R 1.000 pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM5 HGNC ENSG00000138738 26 0 0 40 4 9.09091 TRPC3 0 genome.wustl.edu 37 4 122854138 122854138 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 122854138 122854138 C T SNP TRPC3 ENST00000379645 human ensembl 74_37 -1 known missense c.275 p.R92H 1.000 NULL pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC ENSG00000138741 40 0 0 29 4 12.1212 SPATA5 0 genome.wustl.edu 37 4 123850212 123850212 + Silent SNP T T G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 123850212 123850212 T G SNP SPATA5 ENST00000274008 human ensembl 74_37 +1 known silent c.306 p.P102 0.967 superfamily_Asp_de-COase-like_dom pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase - no_errors SPATA5 HGNC ENSG00000145375 46 0 0 37 11 22.9167 SPATA5 0 genome.wustl.edu 37 4 124177318 124177318 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 124177318 124177318 G A SNP SPATA5 ENST00000274008 human ensembl 74_37 +1 known missense c.2488 p.A830T 0.214 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase - no_errors SPATA5 HGNC ENSG00000145375 109 0 0 90 14 13.4615 ANKRD50 0 genome.wustl.edu 37 4 125591851 125591851 + Missense_Mutation SNP A A T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 125591851 125591851 A T SNP ANKRD50 ENST00000504087 human ensembl 74_37 -1 known missense c.2581 p.L861M 0.994 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD50 HGNC ENSG00000151458 132 0 0 104 18 14.7541 FAT4 0 genome.wustl.edu 37 4 126241559 126241559 + Silent SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 126241559 126241559 T C SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known silent c.3993 p.G1331 0.181 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 124 0 0 111 29 20.7143 FAT4 0 genome.wustl.edu 37 4 126372561 126372561 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 126372561 126372561 G A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.10390 p.V3464I 0.996 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 71 0 0 91 11 10.7843 MFSD8 0 genome.wustl.edu 37 4 128878707 128878707 + Nonsense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 128878707 128878707 G A SNP MFSD8 ENST00000296468 human ensembl 74_37 -1 known nonsense c.103 p.R35* 0.995 superfamily_MFS_dom_general_subst_transpt pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors MFSD8 HGNC ENSG00000164073 97 0 0 112 30 21.1268 RNF150 0 genome.wustl.edu 37 4 141888894 141888894 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 141888894 141888894 G A SNP RNF150 ENST00000515673 human ensembl 74_37 -1 known silent c.618 p.R206 1.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF150 HGNC ENSG00000170153 175 0 0 160 37 18.7817 FBXW7 0 genome.wustl.edu 37 4 153249385 153249385 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 153249385 153249385 G A SNP FBXW7 ENST00000281708 human ensembl 74_37 -1 known missense c.1393 p.R465C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 214 0 0 183 52 22.1277 SFRP2 0 genome.wustl.edu 37 4 154709813 154709813 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 154709813 154709813 G A SNP SFRP2 ENST00000274063 human ensembl 74_37 -1 known missense c.175 p.R59W 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors SFRP2 HGNC ENSG00000145423 161 0 0 136 28 17.0732 GUCY1A3 0 genome.wustl.edu 37 4 156632139 156632139 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 156632139 156632139 G A SNP GUCY1A3 ENST00000296518 human ensembl 74_37 +1 known silent c.822 p.S274 0.262 pfam_Haem_no_assoc-bd pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,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 GUCY1A3 HGNC ENSG00000164116 88 0 0 66 22 25 GUCY1B3 0 genome.wustl.edu 37 4 156723545 156723545 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 156723545 156723545 G A SNP GUCY1B3 ENST00000264424 human ensembl 74_37 +1 known silent c.1227 p.K409 1.000 superfamily_A/G_cyclase,smart_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 GUCY1B3 HGNC ENSG00000061918 44 0 0 60 7 10.4478 GUCY1B3 0 genome.wustl.edu 37 4 156725866 156725866 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 156725866 156725866 A G SNP GUCY1B3 ENST00000264424 human ensembl 74_37 +1 known missense c.1676 p.K559R 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_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 GUCY1B3 HGNC ENSG00000061918 15 0 0 14 6 30 GRIA2 0 genome.wustl.edu 37 4 158255214 158255214 + Missense_Mutation SNP C C G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 158255214 158255214 C G SNP GRIA2 ENST00000264426 human ensembl 74_37 +1 known missense c.1208 p.P403R 0.960 superfamily_Peripla_BP_I 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 100 0 0 132 15 10.2041 FAM198B 0 genome.wustl.edu 37 4 159091970 159091970 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 159091970 159091970 C T SNP FAM198B ENST00000393807 human ensembl 74_37 -1 known silent c.558 p.P186 0.000 NULL NULL - no_errors FAM198B HGNC ENSG00000164125 41 0 0 31 6 16.2162 RAPGEF2 0 genome.wustl.edu 37 4 160277143 160277143 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 160277143 160277143 G A SNP RAPGEF2 ENST00000264431 human ensembl 74_37 +1 known missense c.4307 p.R1436Q 0.996 NULL pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF2 HGNC ENSG00000109756 32 0 0 17 7 29.1667 DDX60L 0 genome.wustl.edu 37 4 169393873 169393873 + RNA SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 169393873 169393873 G T SNP DDX60L ENST00000513901 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DDX60L HGNC ENSG00000181381 71 0 0 71 14 16.4706 TENM3 0 genome.wustl.edu 37 4 183710390 183710390 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 183710390 183710390 A G SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.5449 p.M1817V 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 17 0 0 23 3 11.5385 TENM3 0 genome.wustl.edu 37 4 183720983 183720983 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 183720983 183720983 G A SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.7579 p.V2527M 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 22 0 0 19 3 13.6364 TRAPPC11 0 genome.wustl.edu 37 4 184606268 184606268 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 184606268 184606268 G A SNP TRAPPC11 ENST00000334690 human ensembl 74_37 +1 known silent c.1599 p.R533 0.370 NULL pfam_Foie-gras_1,pfam_DUF1683_C - no_errors TRAPPC11 HGNC ENSG00000168538 44 0 0 26 7 21.2121 GPR125 0 genome.wustl.edu 37 4 22425931 22425931 + Silent SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 22425931 22425931 A G SNP GPR125 ENST00000334304 human ensembl 74_37 -1 known silent c.1488 p.A496 1.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR125 HGNC ENSG00000152990 111 0 0 85 17 16.6667 PPARGC1A 0 genome.wustl.edu 37 4 23815680 23815680 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 23815680 23815680 C T SNP PPARGC1A ENST00000264867 human ensembl 74_37 -1 known missense c.1426 p.D476N 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1A HGNC ENSG00000109819 81 0 0 62 9 12.6761 FAM193A 0 genome.wustl.edu 37 4 2648497 2648497 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 2648497 2648497 C T SNP FAM193A ENST00000324666 human ensembl 74_37 +1 known missense c.376 p.R126C 0.425 NULL NULL - no_errors FAM193A HGNC ENSG00000125386 89 0 0 74 17 18.6813 ARAP2 0 genome.wustl.edu 37 4 36121278 36121278 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 36121278 36121278 G A SNP ARAP2 ENST00000303965 human ensembl 74_37 -1 known silent c.3957 p.D1319 1.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ENSG00000047365 90 0 0 101 11 9.82143 KLF3 0 genome.wustl.edu 37 4 38691351 38691351 + Silent SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 38691351 38691351 A G SNP KLF3 ENST00000261438 human ensembl 74_37 +1 known silent c.546 p.V182 0.998 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF3 HGNC ENSG00000109787 23 0 0 29 4 12.1212 KLF3 0 genome.wustl.edu 37 4 38698754 38698754 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 38698754 38698754 G A SNP KLF3 ENST00000261438 human ensembl 74_37 +1 known missense c.908 p.R303Q 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF3 HGNC ENSG00000109787 108 0 0 81 11 11.9565 FAM114A1 0 genome.wustl.edu 37 4 38933860 38933860 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 38933860 38933860 T C SNP FAM114A1 ENST00000358869 human ensembl 74_37 +1 known missense c.1328 p.V443A 0.986 NULL pfam_DUF719 - no_errors FAM114A1 HGNC ENSG00000197712 44 0 0 43 11 20.3704 APBB2 0 genome.wustl.edu 37 4 40832535 40832535 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 40832535 40832535 C T SNP APBB2 ENST00000295974 human ensembl 74_37 -1 known missense c.1586 p.R529Q 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_WW_dom - no_errors APBB2 HGNC ENSG00000163697 81 0 0 74 11 12.9412 DCAF4L1 0 genome.wustl.edu 37 4 41984155 41984155 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 41984155 41984155 G A SNP DCAF4L1 ENST00000333141 human ensembl 74_37 +1 known missense c.346 p.V116M 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L1 HGNC ENSG00000182308 77 0 0 66 17 20.4819 SLC30A9 0 genome.wustl.edu 37 4 42072645 42072645 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 42072645 42072645 G A SNP SLC30A9 ENST00000264451 human ensembl 74_37 +1 known missense c.1355 p.R452Q 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,superfamily_DNA-bd_dom_put,tigrfam_Cation_efflux - no_errors SLC30A9 HGNC ENSG00000014824 57 0 0 35 10 22.2222 LYAR 0 genome.wustl.edu 37 4 4283517 4283517 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 4283517 4283517 C A SNP LYAR ENST00000343470 human ensembl 74_37 -1 known missense c.230 p.W77L 1.000 NULL pfam_Znf_C2H2_LYAR - no_errors LYAR HGNC ENSG00000145220 141 0 0 126 25 16.5563 NSG1 0 genome.wustl.edu 37 4 4411342 4411342 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 4411342 4411342 G A SNP NSG1 ENST00000397958 human ensembl 74_37 +1 known missense c.289 p.V97I 0.996 pfam_Calcyon_neuron-sp,pirsf_Calcyon_neuron-sp pfam_Calcyon_neuron-sp,pirsf_Calcyon_neuron-sp - no_errors NSG1 Uniprot_gn ENSG00000168824 94 0 0 78 17 17.8947 GABRG1 0 genome.wustl.edu 37 4 46125887 46125887 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 46125887 46125887 C T SNP GABRG1 ENST00000295452 human ensembl 74_37 -1 known missense c.44 p.R15Q 1.000 prints_GABBAg1_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG1 HGNC ENSG00000163285 38 0 0 41 7 14.5833 FRYL 0 genome.wustl.edu 37 4 48572868 48572868 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 48572868 48572868 G A SNP FRYL ENST00000358350 human ensembl 74_37 -1 known missense c.2972 p.A991V 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 82 0 0 76 5 6.17284 FRYL 0 genome.wustl.edu 37 4 48588698 48588698 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 48588698 48588698 G A SNP FRYL ENST00000358350 human ensembl 74_37 -1 known missense c.1688 p.A563V 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 95 0 0 101 27 21.0938 PDGFRA 0 genome.wustl.edu 37 4 55133541 55133541 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 55133541 55133541 T C SNP PDGFRA ENST00000257290 human ensembl 74_37 +1 known missense c.845 p.V282A 1.000 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors PDGFRA HGNC ENSG00000134853 64 0 0 54 14 20.5882 SRP72 0 genome.wustl.edu 37 4 57335866 57335866 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 57335866 57335866 G A SNP SRP72 ENST00000342756 human ensembl 74_37 +1 known missense c.157 p.V53I 1.000 NULL pfam_Signal_recog_part_SRP72_RNA-bd,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SRP72 HGNC ENSG00000174780 108 0 0 85 22 20.5607 CRMP1 0 genome.wustl.edu 37 4 5838617 5838617 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 5838617 5838617 T C SNP CRMP1 ENST00000324989 human ensembl 74_37 -1 known missense c.1327 p.T443A 1.000 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors CRMP1 HGNC ENSG00000072832 81 0 0 64 14 17.9487 LPHN3 0 genome.wustl.edu 37 4 62758566 62758566 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 62758566 62758566 A G SNP LPHN3 ENST00000507625 human ensembl 74_37 +1 known missense c.1673 p.Q558R 1.000 NULL 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 31 0 0 29 9 23.6842 SYT14L 0 genome.wustl.edu 37 4 68928284 68928284 + RNA SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 68928284 68928284 C T SNP SYT14L ENST00000600441 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-35D5.1 Clone_based_vega_gene ENSG00000215127 127 0 0 117 22 15.8273 SORCS2 0 genome.wustl.edu 37 4 7194811 7194811 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 7194811 7194811 G A SNP SORCS2 ENST00000507866 human ensembl 74_37 +1 known silent c.438 p.T146 0.990 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors SORCS2 HGNC ENSG00000184985 13 0 0 22 4 15.3846 CXCL2 0 genome.wustl.edu 37 4 74964394 74964394 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 74964394 74964394 G A SNP CXCL2 ENST00000508487 human ensembl 74_37 -1 known missense c.232 p.L78F 1.000 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC - no_errors CXCL2 HGNC ENSG00000081041 84 0 0 76 16 17.3913 BMP2K 0 genome.wustl.edu 37 4 79792166 79792166 + Missense_Mutation SNP C C G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 79792166 79792166 C G SNP BMP2K ENST00000335016 human ensembl 74_37 +1 known missense c.1461 p.H487Q 0.883 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 BMP2K HGNC ENSG00000138756 28 0 0 21 7 25 AGPAT9 0 genome.wustl.edu 37 4 84519780 84519780 + RNA SNP T T G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 84519780 84519780 T G SNP AGPAT9 ENST00000509044 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors AGPAT9 HGNC ENSG00000138678 59 0 0 73 21 22.3404 SPARCL1 0 genome.wustl.edu 37 4 88414892 88414892 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 88414892 88414892 T C SNP SPARCL1 ENST00000282470 human ensembl 74_37 -1 known missense c.1060 p.R354G 0.006 pirsf_SPARC-like_p1 pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Kazal_dom,pirsf_SPARC-like_p1,pfscan_EF_hand_dom - no_errors SPARCL1 HGNC ENSG00000152583 43 0 0 36 8 18.1818 TMEM175 0 genome.wustl.edu 37 4 951785 951785 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 951785 951785 G A SNP TMEM175 ENST00000264771 human ensembl 74_37 +1 known missense c.1016 p.R339Q 0.061 pfam_DUF1211_TMEM175 pfam_DUF1211_TMEM175 - no_errors TMEM175 HGNC ENSG00000127419 30 0 0 26 8 23.5294 UNC5C 0 genome.wustl.edu 37 4 96124100 96124100 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 96124100 96124100 C A SNP UNC5C ENST00000453304 human ensembl 74_37 -1 known missense c.1918 p.G640W 1.000 NULL pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5C HGNC ENSG00000182168 42 0 0 35 9 20.4545 PGGT1B 0 genome.wustl.edu 37 5 114573651 114573651 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 114573651 114573651 C T SNP PGGT1B ENST00000419445 human ensembl 74_37 -1 known missense c.383 p.G128D 1.000 superfamily_Terpenoid_cyclase/PrenylTrfase pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors PGGT1B HGNC ENSG00000164219 66 0 0 98 16 14.0351 AP3S1 0 genome.wustl.edu 37 5 115230848 115230848 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 115230848 115230848 T C SNP AP3S1 ENST00000316788 human ensembl 74_37 +1 known missense c.338 p.V113A 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu - no_errors AP3S1 HGNC ENSG00000177879 25 0 0 44 7 13.7255 SEMA6A 0 genome.wustl.edu 37 5 115782940 115782940 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 115782940 115782940 G A SNP SEMA6A ENST00000257414 human ensembl 74_37 -1 known missense c.2513 p.T838M 1.000 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6A HGNC ENSG00000092421 112 0 0 122 21 14.6853 FAM170A 0 genome.wustl.edu 37 5 118969758 118969758 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 118969758 118969758 G A SNP FAM170A ENST00000515256 human ensembl 74_37 +1 known silent c.315 p.S105 0.000 NULL NULL - no_errors FAM170A HGNC ENSG00000164334 64 0 0 44 21 32.3077 SLC6A18 0 genome.wustl.edu 37 5 1235779 1235779 + Splice_Site SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 1235779 1235779 T C SNP SLC6A18 ENST00000324642 human ensembl 74_37 +1 known splice_site c.621+2 e4+2 1.000 - - - no_errors SLC6A18 HGNC ENSG00000164363 152 0 0 155 17 9.88372 MEGF10 0 genome.wustl.edu 37 5 126746174 126746174 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 126746174 126746174 C T SNP MEGF10 ENST00000274473 human ensembl 74_37 +1 known silent c.1011 p.G337 0.079 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Proteinase_amylase_inhib_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF10 HGNC ENSG00000145794 64 0 0 49 4 7.54717 SHROOM1 0 genome.wustl.edu 37 5 132159629 132159629 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 132159629 132159629 C T SNP SHROOM1 ENST00000378679 human ensembl 74_37 -1 known missense c.1724 p.G575E 1.000 pfam_ASD2 pfam_ASD2,pfam_ASD1 - no_errors SHROOM1 HGNC ENSG00000164403 65 0 0 46 7 13.2075 AFF4 0 genome.wustl.edu 37 5 132232379 132232379 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 132232379 132232379 G A SNP AFF4 ENST00000265343 human ensembl 74_37 -1 known missense c.1943 p.T648I 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF4 HGNC ENSG00000072364 38 0 0 47 4 7.84314 PHF15 0 genome.wustl.edu 37 5 133873698 133873698 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 133873698 133873698 C T SNP PHF15 ENST00000395003 human ensembl 74_37 +1 known silent c.78 p.S26 0.054 NULL pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF15 HGNC ENSG00000043143 61 0 0 88 8 8.33333 TGFBI 0 genome.wustl.edu 37 5 135398902 135398902 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 135398902 135398902 G T SNP TGFBI ENST00000305126 human ensembl 74_37 +1 known missense c.2039 p.R680M 1.000 pirsf_TGFb-ind_bIGH3/osteoblast_fac2 pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors TGFBI HGNC ENSG00000120708 22 0 0 23 9 28.125 TRPC7 0 genome.wustl.edu 37 5 135587451 135587451 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 135587451 135587451 G A SNP TRPC7 ENST00000513104 human ensembl 74_37 -1 known missense c.1465 p.R489C 0.930 pfam_Ion_trans_dom,pfam_PKD1_2_channel,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC7 HGNC ENSG00000069018 42 0 0 39 7 15.2174 DNAH5 0 genome.wustl.edu 37 5 13864659 13864659 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 13864659 13864659 C T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known silent c.4443 p.P1481 0.002 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 33 0 0 43 8 15.6863 DNAH5 0 genome.wustl.edu 37 5 13900481 13900481 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 13900481 13900481 A G SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.2093 p.V698A 1.000 pfam_Dynein_heavy_dom-1 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 34 0 0 57 5 8.06452 PCDHA2 0 genome.wustl.edu 37 5 140174696 140174696 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 140174696 140174696 G A SNP PCDHA2 ENST00000526136 human ensembl 74_37 +1 known silent c.147 p.A49 0.967 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA2 HGNC ENSG00000204969 93 0 0 76 34 30.9091 PCDHA2 0 genome.wustl.edu 37 5 140175430 140175430 + Missense_Mutation SNP C C G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 140175430 140175430 C G SNP PCDHA2 ENST00000526136 human ensembl 74_37 +1 known missense c.881 p.T294S 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA2 HGNC ENSG00000204969 64 0 0 95 15 13.6364 PCDHA4 0 genome.wustl.edu 37 5 140188556 140188556 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 140188556 140188556 G A SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known missense c.1784 p.R595H 0.134 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 105 0 0 73 33 31.1321 PCDHA5 0 genome.wustl.edu 37 5 140201489 140201489 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 140201489 140201489 C T SNP PCDHA5 ENST00000529859 human ensembl 74_37 +1 known silent c.129 p.F43 0.908 pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA5 HGNC ENSG00000204965 72 0 0 72 34 32.0755 PCDHA5 0 genome.wustl.edu 37 5 140201685 140201685 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 140201685 140201685 G A SNP PCDHA5 ENST00000529859 human ensembl 74_37 +1 known missense c.325 p.V109M 0.998 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA5 HGNC ENSG00000204965 181 1 0.549451 138 56 28.866 PCDHA6 0 genome.wustl.edu 37 5 140209128 140209128 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 140209128 140209128 G A SNP PCDHA6 ENST00000529310 human ensembl 74_37 +1 known silent c.1452 p.A484 0.030 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA6 HGNC ENSG00000081842 116 0 0 93 37 28.4615 PCDHA12 0 genome.wustl.edu 37 5 140255202 140255202 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 140255202 140255202 G A SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known missense c.145 p.A49T 0.771 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC ENSG00000251664 43 0 0 74 18 19.5652 PCDHA12 0 genome.wustl.edu 37 5 140256424 140256424 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 140256424 140256424 C T SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known missense c.1367 p.A456V 0.364 superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC ENSG00000251664 154 0 0 99 41 29.2857 PCDHAC1 0 genome.wustl.edu 37 5 140308873 140308873 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 140308873 140308873 G A SNP PCDHAC1 ENST00000253807 human ensembl 74_37 +1 known missense c.2396 p.R799Q 0.279 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC1 HGNC ENSG00000248383 189 0 0 145 55 27.5 PCDHB1 0 genome.wustl.edu 37 5 140432846 140432846 + Silent SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 140432846 140432846 A G SNP PCDHB1 ENST00000306549 human ensembl 74_37 +1 known silent c.1791 p.S597 0.063 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 PCDHB1 HGNC ENSG00000171815 44 0 0 29 12 29.2683 PCDHB2 0 genome.wustl.edu 37 5 140476383 140476383 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 140476383 140476383 A G SNP PCDHB2 ENST00000194155 human ensembl 74_37 +1 known missense c.2009 p.Q670R 0.995 smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB2 HGNC ENSG00000112852 119 0 0 162 19 10.4972 PCDHB2 0 genome.wustl.edu 37 5 140476537 140476537 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 140476537 140476537 G A SNP PCDHB2 ENST00000194155 human ensembl 74_37 +1 known silent c.2163 p.A721 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB2 HGNC ENSG00000112852 62 0 0 59 24 28.9157 PCDHB3 0 genome.wustl.edu 37 5 140482363 140482363 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 140482363 140482363 G A SNP PCDHB3 ENST00000231130 human ensembl 74_37 +1 known silent c.2130 p.A710 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB3 HGNC ENSG00000113205 160 0 0 155 18 10.4046 PCDHB5 0 genome.wustl.edu 37 5 140515304 140515304 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 140515304 140515304 C T SNP PCDHB5 ENST00000231134 human ensembl 74_37 +1 known silent c.288 p.C96 0.975 pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB5 HGNC ENSG00000113209 60 0 0 86 14 14 PCDHB5 0 genome.wustl.edu 37 5 140517028 140517028 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 140517028 140517028 C T SNP PCDHB5 ENST00000231134 human ensembl 74_37 +1 known missense c.2012 p.P671L 0.120 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB5 HGNC ENSG00000113209 95 0 0 110 19 14.7287 ENSG00000255622 0 genome.wustl.edu 37 5 140536989 140536989 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 140536989 140536989 C T SNP ENSG00000255622 ENST00000539533 human ensembl 74_37 +1 known silent c.1413 p.I471 0.005 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB17 Uniprot_gn ENSG00000255622 185 0 0 144 62 30.0971 PCDHGA1 0 genome.wustl.edu 37 5 140711013 140711013 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 140711013 140711013 C T SNP PCDHGA1 ENST00000517417 human ensembl 74_37 +1 known silent c.762 p.N254 0.896 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 PCDHGA1 HGNC ENSG00000204956 43 0 0 56 10 15.1515 PCDHGA3 0 genome.wustl.edu 37 5 140723769 140723769 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 140723769 140723769 C T SNP PCDHGA3 ENST00000253812 human ensembl 74_37 +1 known missense c.169 p.R57W 0.003 pfam_Cadherin_N,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 109 0 0 102 43 29.6552 PCDHGA5 0 genome.wustl.edu 37 5 140744784 140744784 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 140744784 140744784 C A SNP PCDHGA5 ENST00000518069 human ensembl 74_37 +1 known missense c.887 p.S296Y 0.008 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 PCDHGA5 HGNC ENSG00000253485 33 0 0 34 2 5.55556 PCDHGA5 0 genome.wustl.edu 37 5 140744911 140744911 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 140744911 140744911 G T SNP PCDHGA5 ENST00000518069 human ensembl 74_37 +1 known missense c.1014 p.Q338H 0.015 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA5 HGNC ENSG00000253485 38 0 0 43 8 15.6863 PCDHGB7 0 genome.wustl.edu 37 5 140799068 140799068 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 140799068 140799068 C T SNP PCDHGB7 ENST00000398594 human ensembl 74_37 +1 known silent c.1642 p.L548 0.996 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB7 HGNC ENSG00000254122 37 0 0 42 6 12.5 PCDHGA11 0 genome.wustl.edu 37 5 140800954 140800954 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 140800954 140800954 G T SNP PCDHGA11 ENST00000398587 human ensembl 74_37 +1 known missense c.160 p.G54W 1.000 pfam_Cadherin_N,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 59 0 0 60 7 10.4478 HDAC3 0 genome.wustl.edu 37 5 141004855 141004855 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 141004855 141004855 G A SNP HDAC3 ENST00000305264 human ensembl 74_37 -1 known silent c.1137 p.D379 1.000 pirsf_His_deacetylse_1 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC3 HGNC ENSG00000171720 204 0 0 181 70 27.8884 SPINK13 0 genome.wustl.edu 37 5 147661674 147661674 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 147661674 147661674 G A SNP SPINK13 ENST00000398450 human ensembl 74_37 +1 known missense c.116 p.C39Y 0.040 NULL pfam_Kazal_dom,smart_Kazal_dom - no_errors SPINK13 HGNC ENSG00000214510 115 0 0 150 25 14.2857 TIGD6 0 genome.wustl.edu 37 5 149374812 149374812 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 149374812 149374812 G A SNP TIGD6 ENST00000296736 human ensembl 74_37 -1 known missense c.1100 p.T367I 1.000 pfam_DDE_SF_endonuclease_CENPB-like pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD6 HGNC ENSG00000164296 133 0 0 125 36 22.3602 SYNPO 0 genome.wustl.edu 37 5 150029852 150029852 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 150029852 150029852 G A SNP SYNPO ENST00000394243 human ensembl 74_37 +1 known missense c.2747 p.G916E 1.000 NULL NULL - no_errors SYNPO HGNC ENSG00000171992 41 0 0 52 17 24.6377 FAT2 0 genome.wustl.edu 37 5 150908810 150908810 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 150908810 150908810 G A SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.9955 p.P3319S 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 111 0 0 111 12 9.7561 FAT2 0 genome.wustl.edu 37 5 150924238 150924238 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 150924238 150924238 C T SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known silent c.6450 p.T2150 0.002 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 142 0 0 154 31 16.7568 CLINT1 0 genome.wustl.edu 37 5 157241258 157241258 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 157241258 157241258 C T SNP CLINT1 ENST00000296951 human ensembl 74_37 -1 known missense c.233 p.R78H 1.000 pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors CLINT1 HGNC ENSG00000113282 14 0 0 15 2 11.7647 ADRA1B 0 genome.wustl.edu 37 5 159344089 159344089 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 159344089 159344089 C T SNP ADRA1B ENST00000306675 human ensembl 74_37 +1 known silent c.177 p.A59 1.000 pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA1B_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA1B HGNC ENSG00000170214 86 0 0 88 31 26.0504 TLX3 0 genome.wustl.edu 37 5 170736389 170736389 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 170736389 170736389 C T SNP TLX3 ENST00000296921 human ensembl 74_37 +1 known missense c.20 p.A7V 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors TLX3 HGNC ENSG00000164438 26 0 0 22 9 29.0323 HK3 0 genome.wustl.edu 37 5 176311062 176311062 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 176311062 176311062 C T SNP HK3 ENST00000292432 human ensembl 74_37 -1 known missense c.1931 p.R644Q 1.000 pfam_Hexokinase_N pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK3 HGNC ENSG00000160883 132 0 0 121 24 16.5517 GRK6 0 genome.wustl.edu 37 5 176858998 176858998 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 176858998 176858998 C T SNP GRK6 ENST00000528793 human ensembl 74_37 +1 known missense c.151 p.R51C 1.000 superfamily_Regulat_G_prot_signal_superfam pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK6 HGNC ENSG00000198055 115 0 0 108 23 17.5573 DDX41 0 genome.wustl.edu 37 5 176938902 176938902 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 176938902 176938902 C A SNP DDX41 ENST00000507955 human ensembl 74_37 -1 known missense c.1759 p.G587C 1.000 superfamily_Znf_CCHC pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_CCHC,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX41 HGNC ENSG00000183258 44 0 0 41 11 21.1538 ZFP2 0 genome.wustl.edu 37 5 178359643 178359643 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 178359643 178359643 C T SNP ZFP2 ENST00000361362 human ensembl 74_37 +1 known silent c.1329 p.C443 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP2 HGNC ENSG00000198939 58 0 0 46 15 24.5902 FLT4 0 genome.wustl.edu 37 5 180046343 180046343 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 180046343 180046343 G A SNP FLT4 ENST00000261937 human ensembl 74_37 -1 known missense c.2671 p.R891C 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 33 0 0 32 10 23.8095 CDH10 0 genome.wustl.edu 37 5 24509865 24509865 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 24509865 24509865 C T SNP CDH10 ENST00000264463 human ensembl 74_37 -1 known missense c.1066 p.D356N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH10 HGNC ENSG00000040731 41 0 0 47 21 30.8824 C5orf22 0 genome.wustl.edu 37 5 31538590 31538590 + Nonsense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 31538590 31538590 G T SNP C5orf22 ENST00000325366 human ensembl 74_37 +1 known nonsense c.601 p.G201* 0.558 NULL superfamily_ICAT - no_errors C5orf22 HGNC ENSG00000082213 39 0 0 44 3 6.38298 AMACR 0 genome.wustl.edu 37 5 34008070 34008070 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 34008070 34008070 A G SNP AMACR ENST00000335606 human ensembl 74_37 -1 known missense c.55 p.F19L 0.995 superfamily_CoA-Trfase_III_dom pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom - no_errors AMACR HGNC ENSG00000242110 46 0 0 39 3 7.14286 BRIX1 0 genome.wustl.edu 37 5 34923325 34923325 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 34923325 34923325 T C SNP BRIX1 ENST00000336767 human ensembl 74_37 +1 known missense c.649 p.F217L 1.000 pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix - no_errors BRIX1 HGNC ENSG00000113460 55 0 0 58 16 21.6216 DNAJC21 0 genome.wustl.edu 37 5 34954736 34954736 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 34954736 34954736 G T SNP DNAJC21 ENST00000382021 human ensembl 74_37 +1 known missense c.1648 p.G550C 0.999 smart_Znf_C2H2-like pfam_DnaJ_domain,pfam_Znf_C2H2_jaz,superfamily_DnaJ_domain,smart_DnaJ_domain,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC21 HGNC ENSG00000168724 81 0 0 76 11 12.6437 SPEF2 0 genome.wustl.edu 37 5 35667345 35667345 + Nonsense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 35667345 35667345 C T SNP SPEF2 ENST00000356031 human ensembl 74_37 +1 known nonsense c.1339 p.R447* 1.000 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 34 0 0 46 4 8 IRX1 0 genome.wustl.edu 37 5 3599703 3599703 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 3599703 3599703 C T SNP IRX1 ENST00000302006 human ensembl 74_37 +1 known missense c.641 p.P214L 0.959 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX1 HGNC ENSG00000170549 24 0 0 32 7 17.9487 NADK2 0 genome.wustl.edu 37 5 36225645 36225645 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 36225645 36225645 G A SNP NADK2 ENST00000397338 human ensembl 74_37 -1 known missense c.70 p.R24W 1.000 superfamily_ATP-NAD_kinase_PpnK-typ,pirsf_ATP-NAD-like_euk superfamily_ATP-NAD_kinase_PpnK-typ,pirsf_ATP-NAD-like_euk - no_errors NADK2 HGNC ENSG00000152620 81 0 0 136 34 20 EGFLAM 0 genome.wustl.edu 37 5 38407104 38407104 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 38407104 38407104 G A SNP EGFLAM ENST00000354891 human ensembl 74_37 +1 known missense c.1003 p.G335S 0.000 NULL pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G - no_errors EGFLAM HGNC ENSG00000164318 106 0 0 94 21 18.2609 TTC33 0 genome.wustl.edu 37 5 40716358 40716358 + Silent SNP T T G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 40716358 40716358 T G SNP TTC33 ENST00000337702 human ensembl 74_37 -1 known silent c.678 p.S226 0.168 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC33 HGNC ENSG00000113638 48 0 0 53 13 19.697 ISL1 0 genome.wustl.edu 37 5 50685554 50685554 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 50685554 50685554 C T SNP ISL1 ENST00000230658 human ensembl 74_37 +1 known missense c.553 p.R185W 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 ISL1 HGNC ENSG00000016082 45 0 0 66 4 5.71429 GZMA 0 genome.wustl.edu 37 5 54403958 54403958 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 54403958 54403958 G A SNP GZMA ENST00000274306 human ensembl 74_37 +1 known missense c.363 p.M121I 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors GZMA HGNC ENSG00000145649 26 0 0 35 5 12.5 GPBP1 0 genome.wustl.edu 37 5 56526980 56526980 + Silent SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 56526980 56526980 A G SNP GPBP1 ENST00000424459 human ensembl 74_37 +1 known silent c.243 p.T81 0.835 NULL NULL - no_errors GPBP1 HGNC ENSG00000062194 49 0 0 75 8 9.63855 CENPK 0 genome.wustl.edu 37 5 64824337 64824337 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 64824337 64824337 A G SNP CENPK ENST00000242872 human ensembl 74_37 -1 known missense c.539 p.L180S 1.000 pfam_Centromere_CenpK pfam_Centromere_CenpK,superfamily_Prefoldin - no_errors CENPK HGNC ENSG00000123219 22 0 0 23 5 17.8571 NSUN2 0 genome.wustl.edu 37 5 6604300 6604300 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 6604300 6604300 G A SNP NSUN2 ENST00000264670 human ensembl 74_37 -1 known silent c.1908 p.P636 0.299 NULL pfam_Fmu/NOL1/Nop2p,prints_RCMT,prints_RCMT_NCL1 - no_errors NSUN2 HGNC ENSG00000037474 48 0 0 42 9 17.6471 CMYA5 0 genome.wustl.edu 37 5 79025033 79025033 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 79025033 79025033 G T SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.445 p.G149C 0.657 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 23 0 0 24 9 27.2727 CMYA5 0 genome.wustl.edu 37 5 79027096 79027096 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 79027096 79027096 C T SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known silent c.2508 p.D836 0.931 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 52 0 0 63 13 17.1053 THBS4 0 genome.wustl.edu 37 5 79368151 79368151 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 79368151 79368151 C T SNP THBS4 ENST00000350881 human ensembl 74_37 +1 known missense c.1771 p.R591W 0.000 NULL pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors THBS4 HGNC ENSG00000113296 461 1 0.21645 389 63 13.9381 ANKRD34B 0 genome.wustl.edu 37 5 79854681 79854681 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 79854681 79854681 G A SNP ANKRD34B ENST00000338682 human ensembl 74_37 -1 known silent c.1158 p.D386 0.788 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD34B HGNC ENSG00000189127 38 0 0 39 13 25 LYSMD3 0 genome.wustl.edu 37 5 89815177 89815177 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 89815177 89815177 C T SNP LYSMD3 ENST00000315948 human ensembl 74_37 -1 known missense c.380 p.R127K 1.000 NULL pfam_LysM_dom,smart_LysM_dom - no_errors LYSMD3 HGNC ENSG00000176018 75 0 0 64 8 11.1111 ELL2 0 genome.wustl.edu 37 5 95242268 95242268 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 95242268 95242268 T C SNP ELL2 ENST00000237853 human ensembl 74_37 -1 known missense c.700 p.N234D 1.000 pfam_RNA_pol_II_elong_fac_ELL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL2 HGNC ENSG00000118985 84 0 0 77 36 31.8584 CAST 0 genome.wustl.edu 37 5 96079410 96079410 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 96079410 96079410 G A SNP CAST ENST00000515663 human ensembl 74_37 +1 novel missense c.80 p.R27H 0.000 NULL pfam_Prot_inh_calpain - no_errors CAST HGNC ENSG00000153113 49 0 0 55 21 27.6316 FAM174A 0 genome.wustl.edu 37 5 99871497 99871497 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 99871497 99871497 T C SNP FAM174A ENST00000312637 human ensembl 74_37 +1 known missense c.263 p.V88A 0.168 pfam_DUF1180 pfam_DUF1180 - no_errors FAM174A HGNC ENSG00000174132 13 0 0 15 3 16.6667 AIM1 0 genome.wustl.edu 37 6 106989472 106989472 + Silent SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 106989472 106989472 A G SNP AIM1 ENST00000369066 human ensembl 74_37 +1 known silent c.3633 p.K1211 1.000 NULL pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1 HGNC ENSG00000112297 40 0 0 39 7 15.2174 CEP57L1 0 genome.wustl.edu 37 6 109471409 109471409 + Silent SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 109471409 109471409 A G SNP CEP57L1 ENST00000359793 human ensembl 74_37 +1 known silent c.429 p.V143 1.000 pfam_Cep57_MT-bd_dom pfam_Cep57_MT-bd_dom - no_errors CEP57L1 HGNC ENSG00000183137 104 0 0 99 26 20.8 ZBTB24 0 genome.wustl.edu 37 6 109787365 109787365 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 109787365 109787365 G A SNP ZBTB24 ENST00000230122 human ensembl 74_37 -1 known missense c.1783 p.L595F 1.000 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 ZBTB24 HGNC ENSG00000112365 70 0 0 67 20 22.9885 DDO 0 genome.wustl.edu 37 6 110714089 110714089 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 110714089 110714089 G A SNP DDO ENST00000368924 human ensembl 74_37 -1 known silent c.999 p.G333 0.999 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase - no_errors DDO HGNC ENSG00000203797 65 0 0 67 9 11.8421 RPF2 0 genome.wustl.edu 37 6 111336989 111336989 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 111336989 111336989 C T SNP RPF2 ENST00000441448 human ensembl 74_37 +1 known missense c.526 p.R176C 1.000 pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix - no_errors RPF2 HGNC ENSG00000197498 90 0 0 85 16 15.8416 TBC1D32 0 genome.wustl.edu 37 6 121577313 121577313 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 121577313 121577313 G A SNP TBC1D32 ENST00000275159 human ensembl 74_37 -1 putative missense c.1852 p.R618C 1.000 NULL superfamily_Rab-GTPase-TBC_dom - no_errors TBC1D32 HGNC ENSG00000146350 38 0 0 32 8 20 TPD52L1 0 genome.wustl.edu 37 6 125550288 125550288 + Nonsense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 125550288 125550288 C T SNP TPD52L1 ENST00000534000 human ensembl 74_37 +1 known nonsense c.160 p.R54* 0.164 pfam_TPD52 pfam_TPD52 - no_errors TPD52L1 HGNC ENSG00000111907 50 0 0 46 12 20.6897 ENPP3 0 genome.wustl.edu 37 6 131973697 131973697 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 131973697 131973697 G A SNP ENPP3 ENST00000357639 human ensembl 74_37 +1 known missense c.293 p.C98Y 1.000 pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,pfscan_Somatomedin_B_dom pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom - no_errors ENPP3 HGNC ENSG00000154269 152 0 0 128 24 15.7895 VNN2 0 genome.wustl.edu 37 6 133070863 133070863 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 133070863 133070863 C T SNP VNN2 ENST00000326499 human ensembl 74_37 -1 known missense c.1342 p.E448K 0.000 pirsf_Biotinidase_euk pirsf_Biotinidase_euk,pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase - no_errors VNN2 HGNC ENSG00000112303 40 0 0 38 18 32.1429 KIAA1244 0 genome.wustl.edu 37 6 138655839 138655839 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 138655839 138655839 C T SNP KIAA1244 ENST00000251691 human ensembl 74_37 +1 known silent c.5856 p.T1952 0.001 NULL pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom - no_errors KIAA1244 HGNC ENSG00000112379 26 0 0 26 5 16.129 ECT2L 0 genome.wustl.edu 37 6 139186191 139186191 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 139186191 139186191 C T SNP ECT2L ENST00000367682 human ensembl 74_37 +1 known silent c.1350 p.C450 0.000 NULL pfam_DH-domain,pfam_F-box_dom,superfamily_DH-domain,superfamily_F-box_dom,smart_DH-domain,pfscan_DH-domain - no_errors ECT2L HGNC ENSG00000203734 50 0 0 41 21 33.871 LTV1 0 genome.wustl.edu 37 6 144165680 144165680 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 144165680 144165680 G A SNP LTV1 ENST00000367576 human ensembl 74_37 +1 known missense c.61 p.V21I 1.000 pfam_LTV pfam_LTV - no_errors LTV1 HGNC ENSG00000135521 53 0 0 50 17 25.3731 STX11 0 genome.wustl.edu 37 6 144508363 144508363 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 144508363 144508363 C T SNP STX11 ENST00000367568 human ensembl 74_37 +1 known missense c.599 p.A200V 1.000 superfamily_t-SNARE,smart_T_SNARE_dom pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX11 HGNC ENSG00000135604 35 0 0 32 9 21.9512 SASH1 0 genome.wustl.edu 37 6 148792601 148792601 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 148792601 148792601 G A SNP SASH1 ENST00000367467 human ensembl 74_37 +1 known missense c.476 p.R159Q 1.000 NULL pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH1 HGNC ENSG00000111961 23 0 0 36 6 14.2857 C6orf211 0 genome.wustl.edu 37 6 151790201 151790201 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 151790201 151790201 A G SNP C6orf211 ENST00000367294 human ensembl 74_37 +1 known missense c.1282 p.T428A 0.999 NULL pfam_DUF89,superfamily_DUF89 - no_errors C6orf211 HGNC ENSG00000146476 27 0 0 31 3 8.82353 ESR1 0 genome.wustl.edu 37 6 152129139 152129139 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 152129139 152129139 T C SNP ESR1 ENST00000206249 human ensembl 74_37 +1 known missense c.92 p.L31P 1.000 prints_Oestr_rcpt pfam_Oestr_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Oestr_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors ESR1 HGNC ENSG00000091831 26 0 0 26 3 10.3448 SYNE1 0 genome.wustl.edu 37 6 152605134 152605134 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 152605134 152605134 C T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.18186 p.S6062 0.017 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 56 0 0 47 10 17.5439 SYNE1 0 genome.wustl.edu 37 6 152847285 152847285 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 152847285 152847285 T C SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.155 p.D52G 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain 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 81 0 0 86 10 10.4167 OPRM1 0 genome.wustl.edu 37 6 154360953 154360953 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 154360953 154360953 A G SNP OPRM1 ENST00000434900 human ensembl 74_37 +1 known missense c.553 p.M185V 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_Mu_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt - no_errors OPRM1 HGNC ENSG00000112038 45 0 0 42 9 17.6471 TIAM2 0 genome.wustl.edu 37 6 155504511 155504511 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 155504511 155504511 C A SNP TIAM2 ENST00000456144 human ensembl 74_37 +1 known missense c.2941 p.L981M 0.043 superfamily_PDZ pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM2 HGNC ENSG00000146426 68 0 0 67 12 15.1899 TFB1M 0 genome.wustl.edu 37 6 155581417 155581417 + Nonsense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 155581417 155581417 G A SNP TFB1M ENST00000367166 human ensembl 74_37 -1 known nonsense c.784 p.R262* 0.092 pfam_rRNA_Ade_methylase_transferase pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N - no_errors TFB1M HGNC ENSG00000029639 70 0 0 65 15 18.75 TAGAP 0 genome.wustl.edu 37 6 159457193 159457193 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 159457193 159457193 C T SNP TAGAP ENST00000367066 human ensembl 74_37 -1 known missense c.1862 p.G621E 0.121 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors TAGAP HGNC ENSG00000164691 61 0 0 81 17 17.3469 PARK2 0 genome.wustl.edu 37 6 161969940 161969940 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 161969940 161969940 C T SNP PARK2 ENST00000366898 human ensembl 74_37 -1 known silent c.1029 p.P343 0.968 pfam_Znf_C6HC,smart_Znf_C6HC,pirsf_Parkin,prints_Parkin pfam_Ubiquitin_dom,pfam_Znf_C6HC,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,smart_Znf_C6HC,pirsf_Parkin,pfscan_Ubiquitin_supergroup,prints_Parkin,prints_Ubiquitin - no_errors PARK2 HGNC ENSG00000185345 109 0 0 111 25 18.3824 UNC93A 0 genome.wustl.edu 37 6 167708152 167708152 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 167708152 167708152 G A SNP UNC93A ENST00000230256 human ensembl 74_37 +1 known missense c.235 p.V79M 1.000 pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93A HGNC ENSG00000112494 277 0 0 223 61 21.4789 MLLT4 0 genome.wustl.edu 37 6 168352423 168352423 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 168352423 168352423 C T SNP MLLT4 ENST00000366806 human ensembl 74_37 +1 known silent c.4368 p.P1456 0.016 NULL pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 163 0 0 125 38 23.3129 LRRC16A 0 genome.wustl.edu 37 6 25450638 25450638 + Splice_Site SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 25450638 25450638 G A SNP LRRC16A ENST00000377969 human ensembl 74_37 +1 known splice_site c.57+1 e1+1 1.000 - - - no_errors LRRC16A HGNC ENSG00000079691 33 0 0 24 4 14.2857 PRSS16 0 genome.wustl.edu 37 6 27216672 27216672 + Missense_Mutation SNP T T G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 27216672 27216672 T G SNP PRSS16 ENST00000230582 human ensembl 74_37 +1 known missense c.284 p.I95R 0.103 pfam_Peptidase_S28 pfam_Peptidase_S28 - no_errors PRSS16 HGNC ENSG00000112812 83 0 0 48 19 28.3582 C6orf15 0 genome.wustl.edu 37 6 31079953 31079953 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 31079953 31079953 C T SNP C6orf15 ENST00000259870 human ensembl 74_37 -1 known silent c.183 p.P61 0.001 NULL NULL - no_errors C6orf15 HGNC ENSG00000204542 90 0 0 71 9 11.25 ABHD16A 0 genome.wustl.edu 37 6 31655074 31655074 + Splice_Site SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 31655074 31655074 T C SNP ABHD16A ENST00000395952 human ensembl 74_37 -1 known splice_site c.1594-2 e20-2 1.000 - - - no_errors ABHD16A HGNC ENSG00000204427 20 0 0 17 6 26.087 CFB 0 genome.wustl.edu 37 6 31914339 31914339 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 31914339 31914339 T C SNP CFB ENST00000556679 human ensembl 74_37 +1 known missense c.1760 p.L587P 0.982 smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_VWF_A,pfam_Sushi_SCR_CCP,superfamily_Trypsin-like_Pept_dom,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_VWF_A,smart_Peptidase_S1,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors CFB HGNC ENSG00000243649 43 0 0 28 10 26.3158 VPS52 0 genome.wustl.edu 37 6 33236284 33236284 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 33236284 33236284 G A SNP VPS52 ENST00000445902 human ensembl 74_37 -1 known missense c.691 p.R231W 0.983 pfam_Vps52 pfam_Vps52,pfam_Exocyst_Exoc1/SEC3 - no_errors VPS52 HGNC ENSG00000223501 50 0 0 33 9 21.4286 SYNGAP1 0 genome.wustl.edu 37 6 33410722 33410722 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 33410722 33410722 C T SNP SYNGAP1 ENST00000418600 human ensembl 74_37 +1 known missense c.2393 p.P798L 0.405 pfam_DUF3498 pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors SYNGAP1 HGNC ENSG00000197283 91 0 0 53 16 23.1884 ITPR3 0 genome.wustl.edu 37 6 33642006 33642006 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 33642006 33642006 G A SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known missense c.3080 p.R1027H 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 47 0 0 28 13 31.7073 ITPR3 0 genome.wustl.edu 37 6 33657105 33657105 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 33657105 33657105 G A SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known missense c.6785 p.R2262H 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 96 0 0 73 19 20.6522 SNRPC 0 genome.wustl.edu 37 6 34730386 34730386 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 34730386 34730386 G T SNP SNRPC ENST00000374017 human ensembl 74_37 +1 known missense c.129 p.K43N 1.000 pfam_Znf_U1-C,smart_Znf_U1,pirsf_U1_snRNP-C,pfscan_Znf_C2H2_matrin pfam_Znf_U1-C,smart_Znf_U1,pirsf_U1_snRNP-C,pfscan_Znf_C2H2_matrin - no_errors SNRPC HGNC ENSG00000124562 44 0 0 32 10 23.8095 DUSP22 0 genome.wustl.edu 37 6 348149 348149 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 348149 348149 A G SNP DUSP22 ENST00000419235 human ensembl 74_37 +1 known missense c.310 p.M104V 1.000 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors DUSP22 HGNC ENSG00000112679 316 0 0 305 26 7.85498 SCUBE3 0 genome.wustl.edu 37 6 35196500 35196500 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 35196500 35196500 C T SNP SCUBE3 ENST00000394681 human ensembl 74_37 +1 known silent c.318 p.D106 0.810 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Thrombomodulin - no_errors SCUBE3 HGNC ENSG00000146197 124 1 0.8 129 7 5.14706 FAM50B 0 genome.wustl.edu 37 6 3850780 3850780 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 3850780 3850780 G A SNP FAM50B ENST00000380272 human ensembl 74_37 +1 novel silent c.735 p.P245 0.634 pfam_XAP5 pfam_XAP5 - no_errors FAM50B HGNC ENSG00000145945 74 0 0 33 14 29.7872 DNAH8 0 genome.wustl.edu 37 6 38709643 38709643 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 38709643 38709643 G A SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.622 p.A208T 1.000 pfam_Dynein_heavy_dom-1 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 50 0 0 30 14 31.8182 KCNK5 0 genome.wustl.edu 37 6 39196773 39196773 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 39196773 39196773 A G SNP KCNK5 ENST00000359534 human ensembl 74_37 -1 known missense c.115 p.Y39H 0.474 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK5 HGNC ENSG00000164626 109 0 0 74 30 28.8462 POLH 0 genome.wustl.edu 37 6 43568821 43568821 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 43568821 43568821 C T SNP POLH ENST00000372236 human ensembl 74_37 +1 known missense c.757 p.R253C 0.980 pirsf_DNA_pol_eta,pfscan_DNA_repair_prot_UmuC-like_N pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,superfamily_DNA_pol_Y-fam_little_finger,pirsf_DNA_pol_eta,pfscan_DNA_repair_prot_UmuC-like_N - no_errors POLH HGNC ENSG00000170734 80 0 0 44 15 25.4237 RSPH9 0 genome.wustl.edu 37 6 43612962 43612962 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 43612962 43612962 C T SNP RSPH9 ENST00000372165 human ensembl 74_37 +1 known missense c.127 p.R43W 0.469 NULL NULL - no_errors RSPH9 HGNC ENSG00000172426 86 0 0 60 12 16.6667 HSP90AB1 0 genome.wustl.edu 37 6 44219244 44219244 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 44219244 44219244 C T SNP HSP90AB1 ENST00000353801 human ensembl 74_37 +1 known missense c.1213 p.R405C 1.000 pfam_Hsp90_fam,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Hsp90_fam pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pirsf_Hsp90_fam,prints_Hsp90_N - no_errors HSP90AB1 HGNC ENSG00000096384 14 0 0 10 3 23.0769 CDYL 0 genome.wustl.edu 37 6 4952571 4952571 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 4952571 4952571 G A SNP CDYL ENST00000328908 human ensembl 74_37 +1 known silent c.1566 p.Q522 1.000 pfam_Crotonase_core_superfam pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL HGNC ENSG00000153046 58 0 0 36 17 32.0755 PGK2 0 genome.wustl.edu 37 6 49754037 49754037 + Silent SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 49754037 49754037 A G SNP PGK2 ENST00000304801 human ensembl 74_37 -1 known silent c.864 p.T288 0.880 pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase - no_errors PGK2 HGNC ENSG00000170950 167 0 0 109 39 26.3514 PKHD1 0 genome.wustl.edu 37 6 51920455 51920455 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 51920455 51920455 C T SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.1766 p.R589H 0.000 NULL pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 53 0 0 22 10 31.25 KHDRBS2 0 genome.wustl.edu 37 6 62442603 62442603 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 62442603 62442603 C T SNP KHDRBS2 ENST00000281156 human ensembl 74_37 -1 known missense c.877 p.A293T 0.998 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHDRBS2 HGNC ENSG00000112232 59 0 0 68 18 20.9302 KCNQ5 0 genome.wustl.edu 37 6 73902388 73902388 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 73902388 73902388 G A SNP KCNQ5 ENST00000402622 human ensembl 74_37 +1 known missense c.1840 p.G614S 1.000 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 59 0 0 55 15 21.4286 COL12A1 0 genome.wustl.edu 37 6 75840678 75840678 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 75840678 75840678 G A SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.5957 p.T1986M 0.007 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 97 0 0 84 25 22.9358 COL12A1 0 genome.wustl.edu 37 6 75843032 75843032 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 75843032 75843032 C T SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.5771 p.R1924H 0.933 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 78 0 0 74 11 12.9412 COL12A1 0 genome.wustl.edu 37 6 75866132 75866132 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 75866132 75866132 G A SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.3091 p.R1031C 0.770 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 41 0 0 54 15 21.7391 LCA5 0 genome.wustl.edu 37 6 80228566 80228566 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 80228566 80228566 C T SNP LCA5 ENST00000369846 human ensembl 74_37 -1 known missense c.46 p.A16T 0.001 NULL NULL - no_errors LCA5 HGNC ENSG00000135338 251 0 0 198 58 22.6562 IBTK 0 genome.wustl.edu 37 6 82912316 82912316 + Silent SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 82912316 82912316 A G SNP IBTK ENST00000306270 human ensembl 74_37 -1 known silent c.2658 p.Y886 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 128 0 0 158 17 9.71429 TPBG 0 genome.wustl.edu 37 6 83075702 83075702 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 83075702 83075702 C A SNP TPBG ENST00000369750 human ensembl 74_37 +1 known missense c.1024 p.L342M 1.000 pfam_Cys-rich_flank_reg_C,smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors TPBG HGNC ENSG00000146242 103 0 0 63 21 25 HTR1E 0 genome.wustl.edu 37 6 87725829 87725829 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 87725829 87725829 C A SNP HTR1E ENST00000305344 human ensembl 74_37 +1 known missense c.777 p.F259L 0.987 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_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR1E HGNC ENSG00000168830 258 0 0 226 42 15.6716 GABRR2 0 genome.wustl.edu 37 6 89974270 89974270 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 89974270 89974270 G T SNP GABRR2 ENST00000602399 human ensembl 74_37 -1 known missense c.1022 p.P341Q 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAa_rho2_rcpt,prints_GABAAa_rho_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRR2 HGNC ENSG00000111886 116 0 0 118 8 6.34921 PRKRIP1 0 genome.wustl.edu 37 7 102045105 102045105 + Nonsense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 102045105 102045105 C T SNP PRKRIP1 ENST00000397912 human ensembl 74_37 +1 known nonsense c.367 p.Q123* 1.000 pfam_DUF1168 pfam_DUF1168 - no_errors PRKRIP1 HGNC ENSG00000128563 63 0 0 64 12 15.7895 RELN 0 genome.wustl.edu 37 7 103155847 103155847 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 103155847 103155847 G A SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.7904 p.A2635V 0.994 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 55 0 0 48 8 14.2857 KMT2E 0 genome.wustl.edu 37 7 104681416 104681416 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 104681416 104681416 C A SNP KMT2E ENST00000257745 human ensembl 74_37 +1 known missense c.17 p.P6Q 1.000 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors KMT2E HGNC ENSG00000005483 79 0 0 89 22 19.8198 DLD 0 genome.wustl.edu 37 7 107531652 107531652 + RNA SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 107531652 107531652 A G SNP DLD ENST00000453354 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DLD HGNC ENSG00000091140 22 0 0 11 4 26.6667 LAMB1 0 genome.wustl.edu 37 7 107615466 107615466 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 107615466 107615466 G A SNP LAMB1 ENST00000222399 human ensembl 74_37 -1 known missense c.1447 p.R483C 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,superfamily_P-loop_NTPase,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC ENSG00000091136 59 0 0 53 14 20.8955 GPR146 0 genome.wustl.edu 37 7 1097241 1097241 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 1097241 1097241 G A SNP GPR146 ENST00000297468 human ensembl 74_37 +1 known silent c.90 p.S30 0.258 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR146 HGNC ENSG00000164849 10 0 0 8 5 38.4615 LRRN3 0 genome.wustl.edu 37 7 110763830 110763830 + Silent SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 110763830 110763830 C A SNP LRRN3 ENST00000308478 human ensembl 74_37 +1 known silent c.1002 p.P334 0.977 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRRN3 HGNC ENSG00000173114 95 0 0 74 9 10.8434 IFRD1 0 genome.wustl.edu 37 7 112112914 112112914 + Silent SNP A A C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 112112914 112112914 A C SNP IFRD1 ENST00000005558 human ensembl 74_37 +1 known silent c.1264 p.R422 1.000 pfam_Interferon-rel_develop_reg_C pfam_Interferon-rel_develop_reg_N,pfam_Interferon-rel_develop_reg_C,superfamily_ARM-type_fold - no_errors IFRD1 HGNC ENSG00000006652 52 0 0 51 8 13.5593 GPER1 0 genome.wustl.edu 37 7 1132424 1132424 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 1132424 1132424 G A SNP GPER1 ENST00000297469 human ensembl 74_37 +1 known missense c.1060 p.A354T 0.115 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPER1 HGNC ENSG00000164850 34 0 0 31 5 13.8889 PPP1R3A 0 genome.wustl.edu 37 7 113518738 113518738 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 113518738 113518738 C A SNP PPP1R3A ENST00000284601 human ensembl 74_37 -1 known missense c.2409 p.K803N 0.997 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 44 0 0 48 4 7.69231 THSD7A 0 genome.wustl.edu 37 7 11457139 11457139 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 11457139 11457139 T C SNP THSD7A ENST00000423059 human ensembl 74_37 -1 known missense c.3475 p.K1159E 1.000 smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 31 0 0 42 3 6.66667 CFTR 0 genome.wustl.edu 37 7 117232511 117232511 + Nonsense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 117232511 117232511 C T SNP CFTR ENST00000003084 human ensembl 74_37 +1 known nonsense c.2290 p.R764* 0.001 tigrfam_cAMP_cl_channel 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_CysFib_conduc_TM,tigrfam_cAMP_cl_channel - no_errors CFTR HGNC ENSG00000001626 24 0 0 17 5 22.7273 KCND2 0 genome.wustl.edu 37 7 119915075 119915075 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 119915075 119915075 G A SNP KCND2 ENST00000331113 human ensembl 74_37 +1 known missense c.389 p.G130D 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv3 pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCND2 HGNC ENSG00000184408 113 0 0 101 24 19.2 KCND2 0 genome.wustl.edu 37 7 120373105 120373105 + Nonsense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 120373105 120373105 C T SNP KCND2 ENST00000331113 human ensembl 74_37 +1 known nonsense c.1264 p.R422* 1.000 prints_K_chnl_volt-dep_Kv4 pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCND2 HGNC ENSG00000184408 59 0 0 53 4 7.01754 IQUB 0 genome.wustl.edu 37 7 123120018 123120018 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 123120018 123120018 C T SNP IQUB ENST00000324698 human ensembl 74_37 -1 known missense c.1241 p.R414Q 0.980 NULL pfam_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors IQUB HGNC ENSG00000164675 36 0 0 41 7 14.5833 LMOD2 0 genome.wustl.edu 37 7 123302716 123302716 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 123302716 123302716 G A SNP LMOD2 ENST00000458573 human ensembl 74_37 +1 known missense c.1076 p.R359H 1.000 NULL pfam_Tropomodulin,pfscan_WH2_dom - no_errors LMOD2 HGNC ENSG00000170807 103 0 0 71 13 15.4762 POT1 0 genome.wustl.edu 37 7 124469343 124469343 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 124469343 124469343 T C SNP POT1 ENST00000357628 human ensembl 74_37 -1 known missense c.1559 p.D520G 0.091 NULL pfam_Telomer_end-bd_POT1/Cdc13,superfamily_NA-bd_OB-fold,smart_Telomer_end-bd_POT1/Cdc13 - no_errors POT1 HGNC ENSG00000128513 67 0 0 84 13 13.4021 SND1 0 genome.wustl.edu 37 7 127637892 127637892 + RNA SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 127637892 127637892 G A SNP SND1 ENST00000467238 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SND1 HGNC ENSG00000197157 180 0 0 178 45 20.1794 SND1 0 genome.wustl.edu 37 7 127732146 127732146 + RNA SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 127732146 127732146 G A SNP SND1 ENST00000485871 human ensembl 74_37 +1 known rna NULL NULL 0.960 - - - no_errors SND1 HGNC ENSG00000197157 35 0 0 33 10 23.2558 IMPDH1 0 genome.wustl.edu 37 7 128038487 128038487 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 128038487 128038487 C T SNP IMPDH1 ENST00000338791 human ensembl 74_37 -1 known missense c.1055 p.G352D 0.998 pfam_IMP_DH_GMPRt,tigrfam_IMP_DH pfam_IMP_DH_GMPRt,pfam_CBS_dom,pfam_2Npropane_dOase,pfam_FMN-dep_DH,smart_CBS_dom,tigrfam_IMP_DH - no_errors IMPDH1 HGNC ENSG00000106348 41 0 0 51 13 20.3125 NRF1 0 genome.wustl.edu 37 7 129350368 129350368 + Missense_Mutation SNP T T A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 129350368 129350368 T A SNP NRF1 ENST00000393231 human ensembl 74_37 +1 known missense c.920 p.V307D 1.000 NULL pfam_Nrf1_NLS/DNA-bd_dimer,pfam_Nrf1_activation-bd - no_errors NRF1 HGNC ENSG00000106459 98 0 0 71 16 18.3908 CHRM2 0 genome.wustl.edu 37 7 136700421 136700421 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 136700421 136700421 T C SNP CHRM2 ENST00000320658 human ensembl 74_37 +1 known missense c.809 p.V270A 0.451 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM2 HGNC ENSG00000181072 41 0 0 22 7 24.1379 SSPO 0 genome.wustl.edu 37 7 149512418 149512418 + RNA SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 149512418 149512418 G A SNP SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SSPO HGNC ENSG00000197558 14 0 0 6 3 33.3333 INTS1 0 genome.wustl.edu 37 7 1518027 1518027 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 1518027 1518027 G A SNP INTS1 ENST00000389470 human ensembl 74_37 -1 known silent c.5202 p.S1734 0.777 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 28 0 0 42 10 19.2308 INTS1 0 genome.wustl.edu 37 7 1535174 1535174 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 1535174 1535174 C T SNP INTS1 ENST00000389470 human ensembl 74_37 -1 known missense c.2111 p.R704H 1.000 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 10 0 0 19 9 32.1429 DPP6 0 genome.wustl.edu 37 7 154585835 154585835 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 154585835 154585835 G A SNP DPP6 ENST00000377770 human ensembl 74_37 +1 known missense c.1183 p.A395T 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC ENSG00000130226 32 0 0 20 6 23.0769 HTR5A 0 genome.wustl.edu 37 7 154862987 154862987 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 154862987 154862987 G A SNP HTR5A ENST00000287907 human ensembl 74_37 +1 known silent c.378 p.T126 0.201 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT5A_rcpt,prints_5HT_rcpt - no_errors HTR5A HGNC ENSG00000157219 40 0 0 34 9 20.9302 LMBR1 0 genome.wustl.edu 37 7 156518499 156518499 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 156518499 156518499 C T SNP LMBR1 ENST00000354505 human ensembl 74_37 -1 known silent c.1149 p.T383 0.226 pfam_LMBR1-like_membr_prot pfam_LMBR1-like_membr_prot,prints_Lipcalin_1_rcpt - no_errors LMBR1 HGNC ENSG00000105983 49 0 0 45 13 22.4138 NOM1 0 genome.wustl.edu 37 7 156743059 156743059 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 156743059 156743059 A G SNP NOM1 ENST00000275820 human ensembl 74_37 +1 known missense c.628 p.S210G 0.880 NULL pfam_Initiation_fac_eIF4g_MI,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI - no_errors NOM1 HGNC ENSG00000146909 105 0 0 100 19 15.9664 ESYT2 0 genome.wustl.edu 37 7 158560419 158560419 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 158560419 158560419 C T SNP ESYT2 ENST00000251527 human ensembl 74_37 -1 known missense c.994 p.V332M 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors ESYT2 HGNC ENSG00000117868 62 0 0 47 7 12.963 MAD1L1 0 genome.wustl.edu 37 7 1937855 1937855 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 1937855 1937855 C A SNP MAD1L1 ENST00000265854 human ensembl 74_37 -1 known missense c.1979 p.G660V 0.018 pfam_Mad1 pfam_Mad1 - no_errors MAD1L1 HGNC ENSG00000002822 10 0 0 8 5 38.4615 CDCA7L 0 genome.wustl.edu 37 7 21942677 21942677 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 21942677 21942677 C T SNP CDCA7L ENST00000406877 human ensembl 74_37 -1 known missense c.1253 p.R418H 0.999 pfam_Znf-4CXXC_R1 pfam_Znf-4CXXC_R1 - no_errors CDCA7L HGNC ENSG00000164649 59 0 0 48 8 14.2857 BRAT1 0 genome.wustl.edu 37 7 2578337 2578337 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 2578337 2578337 G A SNP BRAT1 ENST00000340611 human ensembl 74_37 -1 known missense c.1832 p.A611V 0.995 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors BRAT1 HGNC ENSG00000106009 67 0 0 41 15 26.7857 TRIL 0 genome.wustl.edu 37 7 28997415 28997415 + RNA SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 28997415 28997415 C T SNP TRIL ENST00000322982 human ensembl 74_37 -1 known rna NULL NULL 0.604 - - - no_errors TRIL HGNC ENSG00000176734 39 0 0 30 8 21.0526 DPY19L2P1 0 genome.wustl.edu 37 7 35131520 35131520 + RNA SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 35131520 35131520 C T SNP DPY19L2P1 ENST00000436258 human ensembl 74_37 -1 known rna NULL NULL 0.992 - - - no_errors DPY19L2P1 HGNC ENSG00000189212 74 0 0 63 6 8.69565 DPY19L2P1 0 genome.wustl.edu 37 7 35131548 35131548 + RNA SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 35131548 35131548 G A SNP DPY19L2P1 ENST00000436258 human ensembl 74_37 -1 known rna NULL NULL 0.985 - - - no_errors DPY19L2P1 HGNC ENSG00000189212 53 0 0 43 7 14 ELMO1 0 genome.wustl.edu 37 7 36927225 36927225 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 36927225 36927225 G A SNP ELMO1 ENST00000310758 human ensembl 74_37 -1 known missense c.1654 p.R552C 1.000 NULL pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 40 0 0 62 12 16.2162 GLI3 0 genome.wustl.edu 37 7 42005843 42005843 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 42005843 42005843 G A SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.2828 p.T943M 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 21 0 0 15 3 16.6667 HECW1 0 genome.wustl.edu 37 7 43351514 43351514 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 43351514 43351514 C T SNP HECW1 ENST00000395891 human ensembl 74_37 +1 known silent c.180 p.G60 0.001 NULL 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 44 0 0 29 9 23.6842 AEBP1 0 genome.wustl.edu 37 7 44149840 44149840 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 44149840 44149840 C T SNP AEBP1 ENST00000223357 human ensembl 74_37 +1 known missense c.1295 p.A432V 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors AEBP1 HGNC ENSG00000106624 56 0 0 42 8 16 TNS3 0 genome.wustl.edu 37 7 47474967 47474967 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 47474967 47474967 C T SNP TNS3 ENST00000311160 human ensembl 74_37 -1 known silent c.237 p.P79 0.081 smart_Tyr_Pase_cat,pfscan_Phosphatase_tensin-typ pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 94 0 0 93 5 5.10204 GRB10 0 genome.wustl.edu 37 7 50686887 50686887 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 50686887 50686887 C T SNP GRB10 ENST00000398812 human ensembl 74_37 -1 known missense c.757 p.E253K 1.000 NULL pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB10 HGNC ENSG00000106070 41 0 0 48 7 12.7273 OCM 0 genome.wustl.edu 37 7 5922230 5922230 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 5922230 5922230 C T SNP OCM ENST00000242104 human ensembl 74_37 +1 known silent c.168 p.S56 0.998 smart_EF_hand_dom,pfscan_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors OCM HGNC ENSG00000122543 63 0 0 74 16 17.7778 USP42 0 genome.wustl.edu 37 7 6187483 6187483 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 6187483 6187483 C T SNP USP42 ENST00000306177 human ensembl 74_37 +1 known missense c.1346 p.P449L 0.362 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP42 HGNC ENSG00000106346 162 0 0 106 16 13.1148 PRKAR1B 0 genome.wustl.edu 37 7 635869 635869 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 635869 635869 C T SNP PRKAR1B ENST00000360274 human ensembl 74_37 -1 known missense c.622 p.G208S 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin - no_errors PRKAR1B HGNC ENSG00000188191 35 0 0 47 21 30.8824 ZNF680 0 genome.wustl.edu 37 7 63981713 63981713 + Nonsense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 63981713 63981713 C T SNP ZNF680 ENST00000309683 human ensembl 74_37 -1 known nonsense c.1419 p.W473* 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF680 HGNC ENSG00000173041 51 0 0 31 7 18.4211 GUSB 0 genome.wustl.edu 37 7 65439613 65439613 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 65439613 65439613 G A SNP GUSB ENST00000304895 human ensembl 74_37 -1 known missense c.1144 p.R382C 1.000 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 116 0 0 89 13 12.7451 TYW1B 0 genome.wustl.edu 37 7 72081707 72081707 + Missense_Mutation SNP T T G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 72081707 72081707 T G SNP TYW1B ENST00000343721 human ensembl 74_37 -1 known missense c.613 p.I205L 0.779 pfam_tRNA_wybutosine-synth pfam_rSAM,pfam_tRNA_wybutosine-synth - no_errors TYW1B HGNC ENSG00000254184 206 0 0 218 25 10.2881 FZD9 0 genome.wustl.edu 37 7 72849435 72849435 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 72849435 72849435 C T SNP FZD9 ENST00000344575 human ensembl 74_37 +1 known silent c.1098 p.P366 0.567 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 FZD9 HGNC ENSG00000188763 46 0 0 44 4 8.33333 PHTF2 0 genome.wustl.edu 37 7 77569558 77569558 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 77569558 77569558 G A SNP PHTF2 ENST00000248550 human ensembl 74_37 +1 known missense c.1679 p.R560H 1.000 NULL pfam_TF_homeodomain_male - no_errors PHTF2 HGNC ENSG00000006576 56 0 0 64 8 11.1111 MAGI2 0 genome.wustl.edu 37 7 77885526 77885526 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 77885526 77885526 G A SNP MAGI2 ENST00000354212 human ensembl 74_37 -1 known missense c.1781 p.A594V 1.000 superfamily_PDZ pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI2 HGNC ENSG00000187391 53 0 0 27 6 18.1818 PCLO 0 genome.wustl.edu 37 7 82579564 82579564 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 82579564 82579564 G A SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.10340 p.T3447M 1.000 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 51 0 0 56 13 18.8406 SEMA3E 0 genome.wustl.edu 37 7 83119550 83119550 + Silent SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 83119550 83119550 A G SNP SEMA3E ENST00000307792 human ensembl 74_37 -1 known silent c.156 p.P52 0.009 superfamily_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3E HGNC ENSG00000170381 39 0 0 51 3 5.55556 SEMA3A 0 genome.wustl.edu 37 7 83739842 83739842 + Nonsense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 83739842 83739842 C A SNP SEMA3A ENST00000265362 human ensembl 74_37 -1 known nonsense c.397 p.G133* 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_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 79 0 0 84 21 20 ABCB4 0 genome.wustl.edu 37 7 87060812 87060812 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 87060812 87060812 C T SNP ABCB4 ENST00000265723 human ensembl 74_37 -1 known missense c.1801 p.A601T 0.995 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 135 0 0 123 19 13.3803 SUN1 0 genome.wustl.edu 37 7 891069 891069 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 891069 891069 C A SNP SUN1 ENST00000456758 human ensembl 74_37 +1 known missense c.1274 p.A425D 0.003 NULL pfam_SUN1,pfam_Sad1_UNC_C - no_errors SUN1 HGNC ENSG00000164828 21 0 0 17 3 15 KRIT1 0 genome.wustl.edu 37 7 91830633 91830633 + Silent SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 91830633 91830633 T C SNP KRIT1 ENST00000340022 human ensembl 74_37 -1 known silent c.2130 p.V710 0.975 pfscan_FERM_domain pfam_FERM_central,superfamily_Ankyrin_rpt-contain_dom,superfamily_FERM_central,smart_Ankyrin_rpt,smart_Band_41_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_FERM_domain - no_errors KRIT1 HGNC ENSG00000001631 73 0 0 65 13 16.6667 PPP1R9A 0 genome.wustl.edu 37 7 94539496 94539496 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 94539496 94539496 G A SNP PPP1R9A ENST00000289495 human ensembl 74_37 +1 known missense c.71 p.R24Q 1.000 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 32 0 0 27 7 20.5882 LMTK2 0 genome.wustl.edu 37 7 97822648 97822648 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 97822648 97822648 C T SNP LMTK2 ENST00000297293 human ensembl 74_37 +1 known silent c.2871 p.D957 0.001 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 LMTK2 HGNC ENSG00000164715 95 0 0 93 20 17.6991 LMTK2 0 genome.wustl.edu 37 7 97822957 97822957 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 97822957 97822957 C T SNP LMTK2 ENST00000297293 human ensembl 74_37 +1 known silent c.3180 p.G1060 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK2 HGNC ENSG00000164715 32 0 0 13 3 18.75 TRRAP 0 genome.wustl.edu 37 7 98508867 98508867 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 98508867 98508867 G T SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.1980 p.E660D 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 35 0 0 42 8 16 MBLAC1 0 genome.wustl.edu 37 7 99725616 99725616 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 99725616 99725616 G A SNP MBLAC1 ENST00000398075 human ensembl 74_37 +1 known missense c.598 p.E200K 1.000 pfam_Beta-lactamas-like,smart_Beta-lactamas-like pfam_Beta-lactamas-like,smart_Beta-lactamas-like - no_errors MBLAC1 HGNC ENSG00000214309 17 0 0 19 7 26.9231 VPS13B 0 genome.wustl.edu 37 8 100789120 100789120 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 100789120 100789120 C T SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known silent c.7440 p.C2480 0.927 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 128 0 0 166 27 13.9896 FZD6 0 genome.wustl.edu 37 8 104341961 104341961 + Silent SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 104341961 104341961 A G SNP FZD6 ENST00000358755 human ensembl 74_37 +1 known silent c.1620 p.K540 0.998 NULL pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD6 HGNC ENSG00000164930 34 0 0 29 17 36.9565 ABRA 0 genome.wustl.edu 37 8 107773549 107773549 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 107773549 107773549 G A SNP ABRA ENST00000311955 human ensembl 74_37 -1 known missense c.862 p.R288C 0.996 NULL NULL - no_errors ABRA HGNC ENSG00000174429 36 0 0 47 6 11.3208 XKR6 0 genome.wustl.edu 37 8 11058806 11058806 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 11058806 11058806 C T SNP XKR6 ENST00000416569 human ensembl 74_37 -1 known missense c.43 p.A15T 1.000 NULL pfam_Transport_prot_XK - no_errors XKR6 HGNC ENSG00000171044 43 0 0 38 3 7.31707 AARD 0 genome.wustl.edu 37 8 117950647 117950647 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 117950647 117950647 G A SNP AARD ENST00000378279 human ensembl 74_37 +1 known silent c.165 p.L55 0.248 NULL NULL - no_errors AARD HGNC ENSG00000205002 17 0 0 17 5 22.7273 EXT1 0 genome.wustl.edu 37 8 119122745 119122745 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 119122745 119122745 G T SNP EXT1 ENST00000378204 human ensembl 74_37 -1 known missense c.541 p.L181I 1.000 pfam_Exostosin pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXT1 HGNC ENSG00000182197 168 0 0 191 35 15.4867 MTBP 0 genome.wustl.edu 37 8 121528256 121528256 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 121528256 121528256 T C SNP MTBP ENST00000305949 human ensembl 74_37 +1 known missense c.2071 p.C691R 1.000 NULL NULL - no_errors MTBP HGNC ENSG00000172167 94 0 0 99 29 22.6562 HAS2 0 genome.wustl.edu 37 8 122641065 122641065 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 122641065 122641065 C T SNP HAS2 ENST00000303924 human ensembl 74_37 -1 known silent c.516 p.T172 0.992 NULL pfam_Chitin_synth_fng - no_errors HAS2 HGNC ENSG00000170961 253 0 0 340 19 5.29248 ANXA13 0 genome.wustl.edu 37 8 124714942 124714942 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 124714942 124714942 C T SNP ANXA13 ENST00000262219 human ensembl 74_37 -1 known silent c.249 p.S83 0.976 pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXIII - no_errors ANXA13 HGNC ENSG00000104537 138 0 0 141 24 14.5455 FAM91A1 0 genome.wustl.edu 37 8 124792249 124792249 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 124792249 124792249 G A SNP FAM91A1 ENST00000334705 human ensembl 74_37 +1 known missense c.574 p.A192T 1.000 NULL NULL - no_errors FAM91A1 HGNC ENSG00000176853 60 0 0 75 11 12.7907 KIAA1456 0 genome.wustl.edu 37 8 12878931 12878931 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 12878931 12878931 G A SNP KIAA1456 ENST00000524591 human ensembl 74_37 +1 known missense c.743 p.R248H 0.996 NULL pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransferase-rel - no_errors KIAA1456 HGNC ENSG00000250305 38 0 0 62 6 8.82353 WISP1 0 genome.wustl.edu 37 8 134232870 134232870 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 134232870 134232870 C T SNP WISP1 ENST00000250160 human ensembl 74_37 +1 known silent c.396 p.N132 0.888 pfam_VWF_C,smart_VWF_C,pirsf_IGFBP_CNN,pfscan_VWF_C pfam_IGFBP-like,pfam_VWF_C,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors WISP1 HGNC ENSG00000104415 105 0 0 120 8 6.25 COL22A1 0 genome.wustl.edu 37 8 139890158 139890158 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 139890158 139890158 C T SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known missense c.493 p.A165T 0.999 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 14 0 0 16 5 23.8095 CYP11B2 0 genome.wustl.edu 37 8 143996496 143996496 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 143996496 143996496 G A SNP CYP11B2 ENST00000323110 human ensembl 74_37 -1 known silent c.561 p.D187 0.972 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP11B2 HGNC ENSG00000179142 19 0 0 17 5 22.7273 GPIHBP1 0 genome.wustl.edu 37 8 144296964 144296964 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 144296964 144296964 C T SNP GPIHBP1 ENST00000330824 human ensembl 74_37 +1 known silent c.258 p.G86 0.000 pfam_LY6_UPAR pfam_LY6_UPAR - no_errors GPIHBP1 HGNC ENSG00000182851 10 0 0 19 4 17.3913 ENSG00000254741 0 genome.wustl.edu 37 8 144662005 144662005 + RNA SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 144662005 144662005 G A SNP ENSG00000254741 ENST00000529247 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors RP11-661A12.7 Clone_based_vega_gene ENSG00000254741 138 0 0 162 19 10.4972 SCRIB 0 genome.wustl.edu 37 8 144874928 144874928 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 144874928 144874928 C T SNP SCRIB ENST00000320476 human ensembl 74_37 -1 known missense c.4127 p.R1376H 0.993 NULL pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC ENSG00000180900 12 0 0 11 5 31.25 SCRIB 0 genome.wustl.edu 37 8 144895815 144895815 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 144895815 144895815 G A SNP SCRIB ENST00000320476 human ensembl 74_37 -1 known silent c.438 p.D146 0.951 smart_Leu-rich_rpt_typical-subtyp pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC ENSG00000180900 67 0 0 66 4 5.71429 PLEC 0 genome.wustl.edu 37 8 144998249 144998249 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 144998249 144998249 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.6259 p.R2087C 0.998 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 13 0 0 18 3 14.2857 OPLAH 0 genome.wustl.edu 37 8 145110770 145110770 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 145110770 145110770 G A SNP OPLAH ENST00000426825 human ensembl 74_37 -1 known silent c.2169 p.A723 0.004 NULL pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N - no_errors OPLAH HGNC ENSG00000178814 12 0 0 9 2 18.1818 OPLAH 0 genome.wustl.edu 37 8 145111052 145111052 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 145111052 145111052 G A SNP OPLAH ENST00000426825 human ensembl 74_37 -1 known silent c.2094 p.N698 1.000 NULL pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N - no_errors OPLAH HGNC ENSG00000178814 62 0 0 74 8 9.7561 SCRT1 0 genome.wustl.edu 37 8 145557017 145557017 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 145557017 145557017 C T SNP SCRT1 ENST00000332135 human ensembl 74_37 -1 known missense c.877 p.A293T 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SCRT1 HGNC ENSG00000170616 13 0 0 3 3 50 SLC39A4 0 genome.wustl.edu 37 8 145638043 145638043 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 145638043 145638043 G A SNP SLC39A4 ENST00000301305 human ensembl 74_37 -1 known missense c.1823 p.A608V 0.984 pfam_ZIP pfam_ZIP - no_errors SLC39A4 HGNC ENSG00000147804 20 0 0 33 3 8.33333 RECQL4 0 genome.wustl.edu 37 8 145738726 145738726 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 145738726 145738726 G A SNP RECQL4 ENST00000428558 human ensembl 74_37 -1 known missense c.2338 p.R780W 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DNA_rep_checkpnt_protein,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL4 HGNC ENSG00000160957 24 0 0 36 7 16.2791 ARHGAP39 0 genome.wustl.edu 37 8 145771085 145771085 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 145771085 145771085 G A SNP ARHGAP39 ENST00000377307 human ensembl 74_37 -1 known missense c.2069 p.S690L 1.000 NULL pfam_RhoGAP_dom,pfam_MyTH4_dom,superfamily_Rho_GTPase_activation_prot,superfamily_WW_dom,smart_WW_dom,smart_MyTH4_dom,smart_RhoGAP_dom,pfscan_MyTH4_dom,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP39 HGNC ENSG00000147799 37 0 0 55 10 15.3846 DLGAP2 0 genome.wustl.edu 37 8 1497079 1497079 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 1497079 1497079 G A SNP DLGAP2 ENST00000421627 human ensembl 74_37 +1 known missense c.220 p.D74N 1.000 NULL pfam_GKAP - no_errors DLGAP2 HGNC ENSG00000198010 34 0 0 34 4 10.5263 CNOT7 0 genome.wustl.edu 37 8 17088329 17088329 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 17088329 17088329 G A SNP CNOT7 ENST00000361272 human ensembl 74_37 -1 known missense c.758 p.A253V 1.000 superfamily_RNaseH-like_dom pfam_RNase_CAF1,superfamily_RNaseH-like_dom - no_errors CNOT7 HGNC ENSG00000198791 26 0 0 41 7 14.5833 ARHGEF10 0 genome.wustl.edu 37 8 1833846 1833846 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 1833846 1833846 G A SNP ARHGEF10 ENST00000398564 human ensembl 74_37 +1 known silent c.1230 p.P410 0.121 superfamily_DH-domain pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10 HGNC ENSG00000104728 58 0 0 72 23 24.2105 ZNF596 0 genome.wustl.edu 37 8 194678 194678 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 194678 194678 G T SNP ZNF596 ENST00000308811 human ensembl 74_37 +1 known missense c.283 p.G95C 0.005 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 ZNF596 HGNC ENSG00000172748 43 0 0 54 12 18.1818 LZTS1 0 genome.wustl.edu 37 8 20107520 20107520 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 20107520 20107520 G A SNP LZTS1 ENST00000265801 human ensembl 74_37 -1 known missense c.1504 p.R502W 0.998 NULL NULL - no_errors LZTS1 HGNC ENSG00000061337 31 0 0 26 14 35 XPO7 0 genome.wustl.edu 37 8 21847891 21847891 + Silent SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 21847891 21847891 G T SNP XPO7 ENST00000434536 human ensembl 74_37 +1 known silent c.1932 p.A644 0.189 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO7 HGNC ENSG00000130227 129 0 0 158 9 5.38922 FGF17 0 genome.wustl.edu 37 8 21905619 21905619 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 21905619 21905619 C T SNP FGF17 ENST00000359441 human ensembl 74_37 +1 known silent c.510 p.R170 0.109 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF17 HGNC ENSG00000158815 17 0 0 16 3 15.7895 REEP4 0 genome.wustl.edu 37 8 21998164 21998164 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 21998164 21998164 C T SNP REEP4 ENST00000306306 human ensembl 74_37 -1 known missense c.79 p.V27M 1.000 pfam_TB2_DP1_HVA22 pfam_TB2_DP1_HVA22 - no_errors REEP4 HGNC ENSG00000168476 434 0 0 499 49 8.94161 SFTPC 0 genome.wustl.edu 37 8 22020095 22020095 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 22020095 22020095 C T SNP SFTPC ENST00000318561 human ensembl 74_37 +1 known silent c.51 p.S17 0.013 pfam_Surfactant_protein_propep,smart_Pulm_surfact_AP pfam_Surfactant_protein_propep,pfam_BRICHOS_dom,smart_Pulm_surfact_AP,pfscan_BRICHOS_dom - no_errors SFTPC HGNC ENSG00000168484 131 0 0 143 22 13.3333 ENSG00000253200 0 genome.wustl.edu 37 8 22472879 22472879 + RNA SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 22472879 22472879 C T SNP ENSG00000253200 ENST00000521025 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-582J16.5 Clone_based_vega_gene ENSG00000253200 58 0 0 50 23 31.5068 CDCA2 0 genome.wustl.edu 37 8 25343307 25343307 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 25343307 25343307 C T SNP CDCA2 ENST00000330560 human ensembl 74_37 +1 known silent c.1398 p.A466 0.000 NULL NULL - no_errors CDCA2 HGNC ENSG00000184661 41 0 0 58 7 10.7692 SDAD1P1 0 genome.wustl.edu 37 8 26238246 26238246 + RNA SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 26238246 26238246 G A SNP SDAD1P1 ENST00000519902 human ensembl 74_37 -1 known rna NULL NULL 0.919 - - - no_errors SDAD1P1 HGNC ENSG00000228451 30 0 0 40 14 25.9259 PTK2B 0 genome.wustl.edu 37 8 27279842 27279842 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 27279842 27279842 C T SNP PTK2B ENST00000346049 human ensembl 74_37 +1 known missense c.493 p.R165C 0.944 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2B HGNC ENSG00000120899 47 0 0 50 11 18.0328 WRN 0 genome.wustl.edu 37 8 30916670 30916670 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 30916670 30916670 C A SNP WRN ENST00000298139 human ensembl 74_37 +1 known missense c.98 p.A33E 0.020 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 111 0 0 115 21 15.4412 WRN 0 genome.wustl.edu 37 8 30969281 30969281 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 30969281 30969281 C A SNP WRN ENST00000298139 human ensembl 74_37 +1 known missense c.2239 p.L747I 1.000 superfamily_P-loop_NTPase,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors WRN HGNC ENSG00000165392 58 0 0 50 16 24.2424 CSMD1 0 genome.wustl.edu 37 8 3245031 3245031 + Missense_Mutation SNP A A C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 3245031 3245031 A C SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.2770 p.L924V 0.090 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 12 0 0 6 3 33.3333 LETM2 0 genome.wustl.edu 37 8 38261959 38261959 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 38261959 38261959 C A SNP LETM2 ENST00000379957 human ensembl 74_37 +1 known missense c.1153 p.L385M 1.000 pfam_LETM1 pfam_LETM1 - no_errors LETM2 HGNC ENSG00000165046 109 0 0 98 20 16.9492 ANK1 0 genome.wustl.edu 37 8 41522522 41522522 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 41522522 41522522 T C SNP ANK1 ENST00000314214 human ensembl 74_37 -1 known missense c.20 p.Q7R 1.000 NULL NULL - no_errors ANK1 HGNC ENSG00000029534 52 0 0 51 6 10.5263 IKBKB 0 genome.wustl.edu 37 8 42179608 42179608 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 42179608 42179608 G A SNP IKBKB ENST00000520810 human ensembl 74_37 +1 known missense c.1775 p.R592Q 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ubiquitin_supergroup,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors IKBKB HGNC ENSG00000104365 81 0 0 91 18 16.5138 DKK4 0 genome.wustl.edu 37 8 42231850 42231850 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 42231850 42231850 G T SNP DKK4 ENST00000220812 human ensembl 74_37 -1 known missense c.443 p.T148N 0.999 pfam_Prokineticin_domain pfam_Dickkopf_N,pfam_Prokineticin_domain - no_errors DKK4 HGNC ENSG00000104371 85 0 0 95 7 6.86275 CHRNB3 0 genome.wustl.edu 37 8 42586933 42586933 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 42586933 42586933 G A SNP CHRNB3 ENST00000289957 human ensembl 74_37 +1 known silent c.483 p.P161 0.002 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB3 HGNC ENSG00000147432 17 0 0 18 3 14.2857 PRKDC 0 genome.wustl.edu 37 8 48743175 48743175 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 48743175 48743175 G A SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known silent c.8385 p.A2795 0.132 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 73 0 0 75 8 9.63855 EFCAB1 0 genome.wustl.edu 37 8 49647718 49647718 + RNA SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 49647718 49647718 G A SNP EFCAB1 ENST00000521002 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors EFCAB1 HGNC ENSG00000034239 83 0 0 73 23 23.9583 SNTG1 0 genome.wustl.edu 37 8 51449300 51449300 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 51449300 51449300 C T SNP SNTG1 ENST00000518864 human ensembl 74_37 +1 known silent c.612 p.C204 1.000 smart_Pleckstrin_homology pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTG1 HGNC ENSG00000147481 140 0 0 148 16 9.7561 PXDNL 0 genome.wustl.edu 37 8 52321953 52321953 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 52321953 52321953 G A SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.2231 p.A744V 0.515 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 19 0 0 20 4 16.6667 RP1 0 genome.wustl.edu 37 8 55539117 55539117 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 55539117 55539117 C A SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.2675 p.A892E 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 29 0 0 28 7 20 TOX 0 genome.wustl.edu 37 8 59750746 59750746 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 59750746 59750746 C T SNP TOX ENST00000361421 human ensembl 74_37 -1 known missense c.818 p.R273H 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX HGNC ENSG00000198846 71 0 0 82 15 15.4639 CHD7 0 genome.wustl.edu 37 8 61769061 61769061 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 61769061 61769061 G A SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known missense c.7222 p.E2408K 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 27 0 0 30 3 9.09091 DEFA5 0 genome.wustl.edu 37 8 6914177 6914177 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 6914177 6914177 G T SNP DEFA5 ENST00000330590 human ensembl 74_37 -1 known missense c.43 p.L15M 0.787 pfam_Defensin_propep,pirsf_Alpha-defensin pfam_Defensin_propep,pfam_Mammalian_defensins,smart_Defensin_beta/neutrophil,pirsf_Alpha-defensin - no_errors DEFA5 HGNC ENSG00000164816 72 0 0 63 5 7.35294 NCOA2 0 genome.wustl.edu 37 8 71071820 71071820 + Silent SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 71071820 71071820 A G SNP NCOA2 ENST00000452400 human ensembl 74_37 -1 known silent c.1044 p.A348 0.996 superfamily_PAS,pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA2 HGNC ENSG00000140396 103 0 0 128 12 8.57143 MMP16 0 genome.wustl.edu 37 8 89128759 89128759 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 89128759 89128759 G A SNP MMP16 ENST00000286614 human ensembl 74_37 -1 known missense c.1060 p.R354C 1.000 pirsf_Pept_M10A_Metazoans,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP16 HGNC ENSG00000156103 33 0 0 50 6 10.7143 CALB1 0 genome.wustl.edu 37 8 91094854 91094854 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 91094854 91094854 G A SNP CALB1 ENST00000265431 human ensembl 74_37 -1 known silent c.72 p.D24 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CALB1 HGNC ENSG00000104327 142 1 0.699301 109 15 12.0968 TMEM67 0 genome.wustl.edu 37 8 94805495 94805495 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 94805495 94805495 C T SNP TMEM67 ENST00000453321 human ensembl 74_37 +1 known missense c.1645 p.R549C 1.000 pfam_Meckelin pfam_Meckelin,superfamily_Growth_fac_rcpt_N_dom - no_errors TMEM67 HGNC ENSG00000164953 65 0 0 92 13 12.381 TMEM67 0 genome.wustl.edu 37 8 94808178 94808178 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 94808178 94808178 G A SNP TMEM67 ENST00000453321 human ensembl 74_37 +1 known missense c.1823 p.R608H 0.979 pfam_Meckelin pfam_Meckelin,superfamily_Growth_fac_rcpt_N_dom - no_errors TMEM67 HGNC ENSG00000164953 87 0 0 101 19 15.8333 TSPYL5 0 genome.wustl.edu 37 8 98289649 98289649 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 98289649 98289649 G A SNP TSPYL5 ENST00000322128 human ensembl 74_37 -1 known missense c.424 p.R142C 0.876 NULL pfam_NAP_family - no_errors TSPYL5 HGNC ENSG00000180543 45 0 0 52 7 11.8644 TBC1D2 0 genome.wustl.edu 37 9 100983199 100983199 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 100983199 100983199 C T SNP TBC1D2 ENST00000375066 human ensembl 74_37 -1 known silent c.1290 p.T430 0.000 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 59 0 0 73 12 14.1176 TEX10 0 genome.wustl.edu 37 9 103070934 103070934 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 103070934 103070934 C T SNP TEX10 ENST00000374902 human ensembl 74_37 -1 known silent c.2313 p.T771 0.700 NULL pfam_IPI1/TEX10,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors TEX10 HGNC ENSG00000136891 51 0 0 51 18 26.087 ABCA1 0 genome.wustl.edu 37 9 107555572 107555572 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 107555572 107555572 C T SNP ABCA1 ENST00000374736 human ensembl 74_37 -1 known missense c.5516 p.R1839H 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 32 0 0 40 10 20 ABCA1 0 genome.wustl.edu 37 9 107583747 107583747 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 107583747 107583747 C T SNP ABCA1 ENST00000374736 human ensembl 74_37 -1 known missense c.2869 p.A957T 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 ABCA1 HGNC ENSG00000165029 47 0 0 48 19 28.3582 ZNF462 0 genome.wustl.edu 37 9 109689704 109689704 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 109689704 109689704 G A SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known missense c.3511 p.A1171T 0.867 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 158 0 0 138 51 26.9841 FAM206A 0 genome.wustl.edu 37 9 111698719 111698719 + Splice_Site SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 111698719 111698719 T C SNP FAM206A ENST00000322940 human ensembl 74_37 +1 known splice_site c.261+2 e3+2 1.000 - - - no_errors FAM206A HGNC ENSG00000119328 104 0 0 116 37 24.183 UGCG 0 genome.wustl.edu 37 9 114691946 114691946 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 114691946 114691946 C T SNP UGCG ENST00000374279 human ensembl 74_37 +1 known missense c.725 p.A242V 1.000 NULL pfam_Glyco_trans_2 - no_errors UGCG HGNC ENSG00000148154 104 0 0 117 49 29.5181 SUSD1 0 genome.wustl.edu 37 9 114825301 114825301 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 114825301 114825301 G A SNP SUSD1 ENST00000374264 human ensembl 74_37 -1 known missense c.1766 p.P589L 0.964 NULL pfam_EGF-like_Ca-bd_dom,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD1 HGNC ENSG00000106868 49 0 0 55 19 25.6757 TNC 0 genome.wustl.edu 37 9 117825395 117825395 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 117825395 117825395 C T SNP TNC ENST00000350763 human ensembl 74_37 -1 known silent c.3834 p.T1278 0.520 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 46 0 0 37 12 24.4898 DAB2IP 0 genome.wustl.edu 37 9 124544646 124544646 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 124544646 124544646 C T SNP DAB2IP ENST00000408936 human ensembl 74_37 +1 known missense c.3439 p.R1147C 1.000 pfam_DUF3498 pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors DAB2IP HGNC ENSG00000136848 156 1 0.636943 165 27 14.0625 NDUFA8 0 genome.wustl.edu 37 9 124910470 124910470 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 124910470 124910470 C T SNP NDUFA8 ENST00000373768 human ensembl 74_37 -1 known missense c.302 p.R101H 1.000 pfam_CHCH,pirsf_NADH_Ub_cplx-1_asu_su-8 pfam_CHCH,pirsf_NADH_Ub_cplx-1_asu_su-8 - no_errors NDUFA8 HGNC ENSG00000119421 112 0 0 99 31 23.8462 OR1K1 0 genome.wustl.edu 37 9 125562441 125562441 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 125562441 125562441 G A SNP OR1K1 ENST00000277309 human ensembl 74_37 +1 known missense c.40 p.V14I 0.024 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1K1 HGNC ENSG00000165204 45 0 0 35 12 25.5319 PPP6C 0 genome.wustl.edu 37 9 127911974 127911974 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 127911974 127911974 G A SNP PPP6C ENST00000451402 human ensembl 74_37 -1 known missense c.1007 p.T336M 1.000 NULL pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP6C HGNC ENSG00000119414 56 0 0 42 8 16 FAM129B 0 genome.wustl.edu 37 9 130272351 130272351 + RNA SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 130272351 130272351 C T SNP FAM129B ENST00000465154 human ensembl 74_37 -1 known rna NULL NULL 0.012 - - - no_errors FAM129B HGNC ENSG00000136830 31 0 0 17 6 26.087 TOR2A 0 genome.wustl.edu 37 9 130496636 130496636 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 130496636 130496636 A G SNP TOR2A ENST00000373284 human ensembl 74_37 -1 known missense c.359 p.V120A 1.000 pirsf_Torsin_subgr,pfam_Torsin,superfamily_P-loop_NTPase,smart_AAA+_ATPase pirsf_Torsin_subgr,pfam_Torsin,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_ClpA/B - no_errors TOR2A HGNC ENSG00000160404 58 0 0 42 6 12.5 FPGS 0 genome.wustl.edu 37 9 130569280 130569280 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 130569280 130569280 C T SNP FPGS ENST00000373247 human ensembl 74_37 +1 known missense c.415 p.R139W 1.000 superfamily_Mur_ligase_cen,tigrfam_Folylpolyglutamate_synth superfamily_Mur_ligase_cen,superfamily_Mur_ligase_C,tigrfam_Folylpolyglutamate_synth - no_errors FPGS HGNC ENSG00000136877 59 0 0 78 6 7.14286 NAIF1 0 genome.wustl.edu 37 9 130829150 130829150 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 130829150 130829150 G A SNP NAIF1 ENST00000373078 human ensembl 74_37 -1 known silent c.231 p.T77 0.543 NULL NULL - no_errors NAIF1 HGNC ENSG00000171169 65 0 0 66 16 19.5122 SLC27A4 0 genome.wustl.edu 37 9 131117710 131117710 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 131117710 131117710 T C SNP SLC27A4 ENST00000300456 human ensembl 74_37 +1 known missense c.1496 p.L499P 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A4 HGNC ENSG00000167114 33 0 0 30 15 33.3333 NUP188 0 genome.wustl.edu 37 9 131765224 131765224 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 131765224 131765224 C T SNP NUP188 ENST00000372577 human ensembl 74_37 +1 known silent c.4266 p.F1422 0.744 NULL pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 43 0 0 47 7 12.963 NUP188 0 genome.wustl.edu 37 9 131768861 131768861 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 131768861 131768861 G A SNP NUP188 ENST00000372577 human ensembl 74_37 +1 known silent c.5154 p.P1718 0.852 NULL pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 54 0 0 75 22 22.6804 CRAT 0 genome.wustl.edu 37 9 131873258 131873258 + RNA SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 131873258 131873258 G A SNP CRAT ENST00000464290 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CRAT HGNC ENSG00000095321 51 0 0 43 7 14 LAMC3 0 genome.wustl.edu 37 9 133942350 133942350 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 133942350 133942350 G A SNP LAMC3 ENST00000361069 human ensembl 74_37 +1 known missense c.2351 p.R784Q 0.600 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC ENSG00000050555 74 0 0 77 5 6.09756 RAPGEF1 0 genome.wustl.edu 37 9 134455666 134455666 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 134455666 134455666 G A SNP RAPGEF1 ENST00000372190 human ensembl 74_37 -1 known missense c.3121 p.R1041C 1.000 superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF1 HGNC ENSG00000107263 45 0 0 45 11 19.6429 CEL 0 genome.wustl.edu 37 9 135939797 135939797 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 135939797 135939797 G A SNP CEL ENST00000372080 human ensembl 74_37 +1 known missense c.82 p.A28T 0.011 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CEL HGNC ENSG00000170835 31 0 0 31 7 18.4211 BRD3 0 genome.wustl.edu 37 9 136899859 136899859 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 136899859 136899859 C T SNP BRD3 ENST00000303407 human ensembl 74_37 -1 known missense c.2029 p.G677R 0.999 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors BRD3 HGNC ENSG00000169925 82 0 0 67 34 33.6634 UBAC1 0 genome.wustl.edu 37 9 138825253 138825253 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 138825253 138825253 C T SNP UBAC1 ENST00000371756 human ensembl 74_37 -1 known missense c.1211 p.R404H 1.000 NULL pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAC1 HGNC ENSG00000130560 91 0 0 70 27 27.8351 SEC16A 0 genome.wustl.edu 37 9 139341370 139341370 + Silent SNP A A C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 139341370 139341370 A C SNP SEC16A ENST00000313050 human ensembl 74_37 -1 known silent c.6729 p.T2243 0.000 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 119 0 0 101 29 22.3077 ABCA2 0 genome.wustl.edu 37 9 139903997 139903997 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 139903997 139903997 G A SNP ABCA2 ENST00000265662 human ensembl 74_37 -1 known missense c.6730 p.H2244Y 0.998 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ENSG00000107331 116 0 0 107 30 21.8978 NELFB 0 genome.wustl.edu 37 9 140161507 140161507 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 140161507 140161507 T C SNP NELFB ENST00000343053 human ensembl 74_37 +1 known missense c.1207 p.Y403H 0.998 pfam_COBRA1 pfam_COBRA1 - no_errors NELFB HGNC ENSG00000188986 55 0 0 51 33 39.2857 ENTPD8 0 genome.wustl.edu 37 9 140332630 140332630 + Silent SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 140332630 140332630 G T SNP ENTPD8 ENST00000371506 human ensembl 74_37 -1 known silent c.108 p.L36 0.982 NULL pfam_GDA1_CD39_NTPase - no_errors ENTPD8 HGNC ENSG00000188833 11 0 0 12 5 29.4118 PNPLA7 0 genome.wustl.edu 37 9 140417285 140417285 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 140417285 140417285 C T SNP PNPLA7 ENST00000406427 human ensembl 74_37 -1 known missense c.772 p.V258I 0.999 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom 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 136 0 0 114 41 26.4516 CACNA1B 0 genome.wustl.edu 37 9 140777293 140777293 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 140777293 140777293 G A SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known missense c.488 p.R163Q 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 181 0 0 202 24 10.6195 CBWD1 0 genome.wustl.edu 37 9 164038 164038 + Splice_Site SNP C C G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 164038 164038 C G SNP CBWD1 ENST00000356521 human ensembl 74_37 -1 known splice_site c.431-1 e5-1 1.000 - - - no_errors CBWD1 HGNC ENSG00000172785 76 0 0 90 7 7.21649 KIAA0020 0 genome.wustl.edu 37 9 2831330 2831330 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 2831330 2831330 G A SNP KIAA0020 ENST00000397885 human ensembl 74_37 -1 known silent c.531 p.H177 0.989 superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt pfam_CPL,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors KIAA0020 HGNC ENSG00000080608 56 0 0 64 9 12.3288 RFX3 0 genome.wustl.edu 37 9 3293131 3293131 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 3293131 3293131 C A SNP RFX3 ENST00000382004 human ensembl 74_37 -1 known missense c.677 p.G226V 1.000 pfam_DNA-bd_RFX pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX3 HGNC ENSG00000080298 66 0 0 73 13 15.1163 PTENP1 0 genome.wustl.edu 37 9 33675379 33675379 + RNA SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 33675379 33675379 C A SNP PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors PTENP1 HGNC ENSG00000237984 13 0 0 11 4 26.6667 PTENP1 0 genome.wustl.edu 37 9 33675400 33675400 + RNA SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 33675400 33675400 G A SNP PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PTENP1 HGNC ENSG00000237984 21 0 0 22 4 15.3846 RPP25L 0 genome.wustl.edu 37 9 34610959 34610959 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 34610959 34610959 C T SNP RPP25L ENST00000297613 human ensembl 74_37 -1 known missense c.335 p.R112H 1.000 NULL pfam_DNA/RNA-bd_Alba-like - no_errors RPP25L HGNC ENSG00000164967 47 0 0 49 10 16.9492 KIAA1045 0 genome.wustl.edu 37 9 34977119 34977119 + Nonsense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 34977119 34977119 C T SNP KIAA1045 ENST00000242315 human ensembl 74_37 +1 known nonsense c.889 p.R297* 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors KIAA1045 HGNC ENSG00000122733 44 0 0 49 3 5.76923 RUSC2 0 genome.wustl.edu 37 9 35546877 35546877 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 35546877 35546877 A G SNP RUSC2 ENST00000361226 human ensembl 74_37 +1 known missense c.359 p.D120G 0.997 NULL pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC2 HGNC ENSG00000198853 76 0 0 73 14 16.092 RUSC2 0 genome.wustl.edu 37 9 35547005 35547005 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 35547005 35547005 C T SNP RUSC2 ENST00000361226 human ensembl 74_37 +1 known missense c.487 p.R163C 0.658 NULL pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC2 HGNC ENSG00000198853 82 0 0 56 16 22.2222 HRCT1 0 genome.wustl.edu 37 9 35906619 35906619 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 35906619 35906619 G A SNP HRCT1 ENST00000354323 human ensembl 74_37 +1 known missense c.335 p.R112H 0.024 NULL NULL - no_errors HRCT1 HGNC ENSG00000196196 13 0 0 12 4 25 FRMPD1 0 genome.wustl.edu 37 9 37746671 37746671 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 37746671 37746671 G A SNP FRMPD1 ENST00000377765 human ensembl 74_37 +1 known missense c.4642 p.D1548N 1.000 NULL pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD1 HGNC ENSG00000070601 182 0 0 179 37 17.1296 ZNF658 0 genome.wustl.edu 37 9 40773222 40773222 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 40773222 40773222 G A SNP ZNF658 ENST00000377626 human ensembl 74_37 -1 known missense c.2053 p.P685S 0.984 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 ZNF658 HGNC ENSG00000196409 160 0 0 139 38 21.4689 FOXD4L5 0 genome.wustl.edu 37 9 70177147 70177147 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 70177147 70177147 G A SNP FOXD4L5 ENST00000377420 human ensembl 74_37 -1 known silent c.837 p.A279 0.106 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4L5 HGNC ENSG00000204779 57 0 0 49 10 16.9492 PGM5 0 genome.wustl.edu 37 9 70993153 70993153 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 70993153 70993153 G A SNP PGM5 ENST00000396396 human ensembl 74_37 +1 known silent c.300 p.S100 0.985 pfam_A-D-PHexomutase_a/b/a-I,superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM5 HGNC ENSG00000154330 42 0 0 87 10 10.3093 TJP2 0 genome.wustl.edu 37 9 71863051 71863051 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 71863051 71863051 G A SNP TJP2 ENST00000539225 human ensembl 74_37 +1 known missense c.2884 p.A962T 0.998 NULL pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS2,prints_ZonOcculdens - no_errors TJP2 HGNC ENSG00000119139 29 0 0 29 8 21.6216 TRPM3 0 genome.wustl.edu 37 9 73254016 73254016 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 73254016 73254016 C T SNP TRPM3 ENST00000423814 human ensembl 74_37 -1 known missense c.1622 p.R541H 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 95 0 0 102 39 27.6596 RORB 0 genome.wustl.edu 37 9 77249562 77249562 + Missense_Mutation SNP A A C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 77249562 77249562 A C SNP RORB ENST00000396204 human ensembl 74_37 +1 known missense c.142 p.S48R 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_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,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt,pfscan_Znf_hrmn_rcpt - no_errors RORB HGNC ENSG00000198963 12 0 0 13 5 27.7778 PRUNE2 0 genome.wustl.edu 37 9 79328528 79328528 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 79328528 79328528 G A SNP PRUNE2 ENST00000376718 human ensembl 74_37 -1 novel missense c.866 p.P289L 0.927 pfam_DHHA2 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 12 0 0 14 4 22.2222 TLE4 0 genome.wustl.edu 37 9 82333695 82333695 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 82333695 82333695 G A SNP TLE4 ENST00000376520 human ensembl 74_37 +1 known missense c.1495 p.D499N 1.000 superfamily_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 TLE4 HGNC ENSG00000106829 100 0 0 78 23 22.7723 TLE1 0 genome.wustl.edu 37 9 84226807 84226807 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 84226807 84226807 G A SNP TLE1 ENST00000376499 human ensembl 74_37 -1 known silent c.1131 p.H377 0.284 NULL pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE1 HGNC ENSG00000196781 61 0 0 55 24 30.3797 RASEF 0 genome.wustl.edu 37 9 85637259 85637259 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 85637259 85637259 G A SNP RASEF ENST00000376447 human ensembl 74_37 -1 known missense c.661 p.R221W 0.992 superfamily_Vinculin/catenin pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_Vinculin/catenin,smart_EF_hand_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_hand_dom,tigrfam_Small_GTP-bd_dom - no_errors RASEF HGNC ENSG00000165105 106 1 0.934579 104 24 18.75 SPATA31C1 0 genome.wustl.edu 37 9 90535982 90535982 + RNA SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 90535982 90535982 C T SNP SPATA31C1 ENST00000602681 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SPATA31C1 HGNC ENSG00000230246 172 0 0 180 12 6.25 ANKRD19P 0 genome.wustl.edu 37 9 95599959 95599959 + RNA SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 95599959 95599959 C T SNP ANKRD19P ENST00000464387 human ensembl 74_37 +1 known rna NULL NULL 0.252 - - - no_errors ANKRD19P HGNC ENSG00000187984 26 0 0 19 14 42.4242 FANCC 0 genome.wustl.edu 37 9 97933362 97933362 + Nonsense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 97933362 97933362 G A SNP FANCC ENST00000289081 human ensembl 74_37 -1 known nonsense c.520 p.R174* 0.981 pfam_Fanconi,pirsf_Fanconi pfam_Fanconi,pirsf_Fanconi,prints_Fanconi - no_errors FANCC HGNC ENSG00000158169 48 0 0 42 14 25 ENSG00000215642 0 genome.wustl.edu 37 GL000192.1 197265 197265 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 GL000192.1 197265 197265 G A SNP ENSG00000215642 ENST00000545452 human ensembl 74_37 -1 novel silent c.1017 p.I339 NULL superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors AL360154.1 Clone_based_ensembl_gene ENSG00000215642 73 0 0 77 10 11.4943 ARMCX6 0 genome.wustl.edu 37 X 100871447 100871447 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 X 100871447 100871447 T C SNP ARMCX6 ENST00000361910 human ensembl 74_37 -1 known missense c.164 p.E55G 0.097 NULL pfam_ARM-rpt_dom - no_errors ARMCX6 HGNC ENSG00000198960 27 0 0 16 11 40.7407 GPRASP2 0 genome.wustl.edu 37 X 101971622 101971622 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 X 101971622 101971622 C T SNP GPRASP2 ENST00000332262 human ensembl 74_37 +1 known missense c.1825 p.R609W 0.001 pfam_ARM-rpt_dom pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP2 HGNC ENSG00000158301 24 0 0 27 18 40 VSIG1 0 genome.wustl.edu 37 X 107320332 107320332 + Silent SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 X 107320332 107320332 C T SNP VSIG1 ENST00000415430 human ensembl 74_37 +1 known silent c.993 p.D331 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors VSIG1 HGNC ENSG00000101842 43 0 0 26 12 31.5789 THOC2 0 genome.wustl.edu 37 X 122799589 122799589 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 X 122799589 122799589 G A SNP THOC2 ENST00000245838 human ensembl 74_37 -1 known silent c.1290 p.D430 0.706 NULL pfam_THO_THOC2_C,pfam_THO_THOC2_N - no_errors THOC2 HGNC ENSG00000125676 72 0 0 54 22 28.9474 SMARCA1 0 genome.wustl.edu 37 X 128615123 128615123 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 X 128615123 128615123 G A SNP SMARCA1 ENST00000371122 human ensembl 74_37 -1 known missense c.2257 p.R753C 1.000 NULL pfam_SNF2_N,pfam_SLIDE,pfam_ISWI_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,superfamily_ISWI_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA1 HGNC ENSG00000102038 24 0 0 20 9 31.0345 SASH3 0 genome.wustl.edu 37 X 128925043 128925043 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 X 128925043 128925043 G A SNP SASH3 ENST00000356892 human ensembl 74_37 +1 known missense c.428 p.R143H 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 SASH3 HGNC ENSG00000122122 22 0 0 26 17 39.5349 TLR8 0 genome.wustl.edu 37 X 12937805 12937805 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 X 12937805 12937805 G A SNP TLR8 ENST00000218032 human ensembl 74_37 +1 known missense c.646 p.V216M 0.998 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR8 HGNC ENSG00000101916 63 0 0 50 26 34.2105 HS6ST2 0 genome.wustl.edu 37 X 132090966 132090966 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 X 132090966 132090966 G A SNP HS6ST2 ENST00000521489 human ensembl 74_37 -1 known missense c.817 p.R273W 0.999 pfam_Sulfotransferase,superfamily_P-loop_NTPase pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS6ST2 HGNC ENSG00000171004 10 0 0 2 4 66.6667 MCF2 0 genome.wustl.edu 37 X 138713596 138713596 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 X 138713596 138713596 G A SNP MCF2 ENST00000370578 human ensembl 74_37 -1 known silent c.681 p.G227 1.000 superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2 HGNC ENSG00000101977 76 0 0 55 37 40.2174 MIR105-2 0 genome.wustl.edu 37 X 151562923 151562923 + RNA SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 X 151562923 151562923 A G SNP MIR105-2 ENST00000385083 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors MIR105-2 HGNC ENSG00000207818 35 0 0 27 18 40 ATP2B3 0 genome.wustl.edu 37 X 152823744 152823744 + Missense_Mutation SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 X 152823744 152823744 G T SNP ATP2B3 ENST00000263519 human ensembl 74_37 +1 known missense c.2608 p.G870C 0.999 tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase 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 ATP2B3 HGNC ENSG00000067842 67 0 0 70 9 11.3924 AVPR2 0 genome.wustl.edu 37 X 153171113 153171113 + Silent SNP G G T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 X 153171113 153171113 G T SNP AVPR2 ENST00000337474 human ensembl 74_37 +1 known silent c.153 p.V51 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vprsn_rcpt_V2,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors AVPR2 HGNC ENSG00000126895 14 0 0 9 11 55 ASMTL-AS1 0 genome.wustl.edu 37 X 1531838 1531838 + RNA SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 X 1531838 1531838 A G SNP ASMTL-AS1 ENST00000420411 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ASMTL-AS1 HGNC ENSG00000236017 10 0 0 8 8 50 F8 0 genome.wustl.edu 37 X 154157611 154157611 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 X 154157611 154157611 G A SNP F8 ENST00000360256 human ensembl 74_37 -1 known missense c.4454 p.A1485V 0.000 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 27 0 0 24 8 25 CDKL5 0 genome.wustl.edu 37 X 18622777 18622777 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 X 18622777 18622777 A G SNP CDKL5 ENST00000379989 human ensembl 74_37 +1 known missense c.1733 p.D578G 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 CDKL5 HGNC ENSG00000008086 52 0 0 38 25 39.6825 GPR64 0 genome.wustl.edu 37 X 19049103 19049103 + Silent SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 X 19049103 19049103 T C SNP GPR64 ENST00000379869 human ensembl 74_37 -1 known silent c.357 p.S119 1.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR64 HGNC ENSG00000173698 135 0 0 122 17 12.2302 PHEX 0 genome.wustl.edu 37 X 22115094 22115094 + Nonsense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 X 22115094 22115094 C T SNP PHEX ENST00000379374 human ensembl 74_37 +1 known nonsense c.871 p.R291* 1.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors PHEX HGNC ENSG00000102174 38 0 0 31 20 39.2157 DMD 0 genome.wustl.edu 37 X 32366534 32366534 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 X 32366534 32366534 T C SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.5437 p.N1813D 1.000 smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,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 40 0 0 32 16 33.3333 SRPX 0 genome.wustl.edu 37 X 38008990 38008990 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 X 38008990 38008990 C T SNP SRPX ENST00000378533 human ensembl 74_37 -1 known missense c.1369 p.E457K 0.998 NULL pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP - no_errors SRPX HGNC ENSG00000101955 32 0 0 28 19 40.4255 GPR82 0 genome.wustl.edu 37 X 41586424 41586424 + Missense_Mutation SNP T T C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 X 41586424 41586424 T C SNP GPR82 ENST00000302548 human ensembl 74_37 +1 known missense c.145 p.S49P 0.887 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR82 HGNC ENSG00000171657 21 0 0 16 9 36 CACNA1F 0 genome.wustl.edu 37 X 49066136 49066136 + Missense_Mutation SNP C C A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 X 49066136 49066136 C A SNP CACNA1F ENST00000376265 human ensembl 74_37 -1 known missense c.4807 p.G1603W 1.000 pfam_VDCC_a1su_IQ pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1F HGNC ENSG00000102001 8 0 0 4 4 50 NUDT10 0 genome.wustl.edu 37 X 51076039 51076039 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 X 51076039 51076039 G A SNP NUDT10 ENST00000356450 human ensembl 74_37 +1 known silent c.222 p.G74 0.987 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT10 HGNC ENSG00000122824 37 0 0 25 8 24.2424 MAGEH1 0 genome.wustl.edu 37 X 55479394 55479394 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 X 55479394 55479394 A G SNP MAGEH1 ENST00000342972 human ensembl 74_37 +1 known missense c.587 p.D196G 0.017 pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEH1 HGNC ENSG00000187601 66 0 0 32 27 45.7627 MTMR8 0 genome.wustl.edu 37 X 63444967 63444967 + Silent SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 X 63444967 63444967 G A SNP MTMR8 ENST00000453546 human ensembl 74_37 -1 known silent c.1689 p.A563 0.322 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Myotubularin-like_Pase_dom,pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors MTMR8 HGNC ENSG00000102043 22 0 0 7 10 58.8235 SLC7A3 0 genome.wustl.edu 37 X 70147355 70147355 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 X 70147355 70147355 C T SNP SLC7A3 ENST00000298085 human ensembl 74_37 -1 known missense c.1162 p.V388M 0.747 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease - no_errors SLC7A3 HGNC ENSG00000165349 27 0 0 16 9 36 IL2RG 0 genome.wustl.edu 37 X 70329102 70329102 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 X 70329102 70329102 G A SNP IL2RG ENST00000374202 human ensembl 74_37 -1 known missense c.733 p.H245Y 0.914 superfamily_Fibronectin_type3 pfam_IL-6_rcpt_alpha-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL2RG HGNC ENSG00000147168 39 0 0 24 8 25 XIST 0 genome.wustl.edu 37 X 73045094 73045094 + RNA SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 X 73045094 73045094 C T SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 30 0 0 16 8 33.3333 ZNF711 0 genome.wustl.edu 37 X 84526109 84526109 + Missense_Mutation SNP A A G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 X 84526109 84526109 A G SNP ZNF711 ENST00000395402 human ensembl 74_37 +1 known missense c.1585 p.K529E 1.000 pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF711 HGNC ENSG00000147180 26 0 0 20 7 25.9259 PCDH19 0 genome.wustl.edu 37 X 99551849 99551849 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 X 99551849 99551849 C T SNP PCDH19 ENST00000373034 human ensembl 74_37 -1 known missense c.2873 p.R958Q 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 41 0 0 35 15 30 SRPX2 0 genome.wustl.edu 37 X 99920543 99920543 + Missense_Mutation SNP C C T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 X 99920543 99920543 C T SNP SRPX2 ENST00000373004 human ensembl 74_37 +1 known missense c.670 p.R224W 1.000 pfam_Hyalin,pfscan_Hyalin pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,superfamily_Thioredoxin-like_fold,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP - no_errors SRPX2 HGNC ENSG00000102359 32 0 0 10 14 58.3333 USP9Y 0 genome.wustl.edu 37 Y 14968300 14968300 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 Y 14968300 14968300 G A SNP USP9Y ENST00000338981 human ensembl 74_37 +1 known missense c.7100 p.R2367K 1.000 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,superfamily_Glycoside_hydrolase_SF,pfscan_Peptidase_C19/C67 - no_errors USP9Y HGNC ENSG00000114374 25 0 0 17 5 22.7273 NLGN4Y 0 genome.wustl.edu 37 Y 16941639 16941639 + Missense_Mutation SNP G G A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 Y 16941639 16941639 G A SNP NLGN4Y ENST00000382868 human ensembl 74_37 +1 known missense c.1012 p.G338S 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,prints_Neuroligin - no_errors NLGN4Y HGNC ENSG00000165246 35 0 0 23 4 14.8148 CDC14A 0 genome.wustl.edu 37 1 100889837 100889837 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 100889837 100889837 C - DEL CDC14A ENST00000361544 human ensembl 74_37 +1 known frame_shift_del c.369 p.Y126fs 0.021 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors CDC14A HGNC ENSG00000079335 104 0 0 112 12 9.67742 CTTNBP2NL 0 genome.wustl.edu 37 1 112958899 112958899 + RNA DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 112958899 112958899 A - DEL CTTNBP2NL ENST00000502356 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTTNBP2NL HGNC ENSG00000143079 29 0 0 32 6 15.7895 TNFRSF4 0 genome.wustl.edu 37 1 1147407 1147408 + Frame_Shift_Ins INS - - G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 1147407 1147408 - G INS TNFRSF4 ENST00000379236 human ensembl 74_37 -1 known frame_shift_ins c.549_548 p.A184fs 0.000:0.000 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_4 - no_errors TNFRSF4 HGNC ENSG00000186827 16 0 0 24 5 17.2414 SCNN1D 0 genome.wustl.edu 37 1 1222261 1222262 + Frame_Shift_Ins INS - - C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 1222261 1222262 - C INS SCNN1D ENST00000379116 human ensembl 74_37 +1 known frame_shift_ins c.1025_1026 p.R344fs 0.000:0.006 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1D HGNC ENSG00000162572 85 0 0 108 6 5.26316 PRDM2 0 genome.wustl.edu 37 1 14106600 14106601 + Frame_Shift_Ins INS - - A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 14106600 14106601 - A INS PRDM2 ENST00000235372 human ensembl 74_37 +1 known frame_shift_ins c.2310_2311 p.S772fs 0.819:1.000 pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 64 0 0 72 7 8.86076 PRDM2 0 genome.wustl.edu 37 1 14108749 14108750 + Frame_Shift_Del DEL AA AA - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 14108749 14108750 AA - DEL PRDM2 ENST00000235372 human ensembl 74_37 +1 known frame_shift_del c.4459_4460 p.K1489fs 1.000:1.000 pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 180 0 0 194 29 13.0045 ADAMTSL4 0 genome.wustl.edu 37 1 150530506 150530506 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 150530506 150530506 G - DEL ADAMTSL4 ENST00000369039 human ensembl 74_37 +1 known frame_shift_del c.2332 p.G780fs 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_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL4 HGNC ENSG00000143382 112 1 0.884956 137 21 13.2911 HORMAD1 0 genome.wustl.edu 37 1 150676776 150676776 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 150676776 150676776 T - DEL HORMAD1 ENST00000361824 human ensembl 74_37 -1 known frame_shift_del c.848 p.N283fs 0.000 NULL pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd - no_errors HORMAD1 HGNC ENSG00000143452 28 0 0 18 3 14.2857 RFX5 0 genome.wustl.edu 37 1 151318741 151318741 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 151318741 151318741 G - DEL RFX5 ENST00000290524 human ensembl 74_37 -1 known frame_shift_del c.56 p.P19fs 0.658 NULL pfam_DNA-bd_RFX - no_errors RFX5 HGNC ENSG00000143390 110 1 0.900901 108 28 20.5882 SLC27A3 0 genome.wustl.edu 37 1 153751860 153751860 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 153751860 153751860 C - DEL SLC27A3 ENST00000368661 human ensembl 74_37 +1 known frame_shift_del c.1927 p.H645fs 0.247 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A3 HGNC ENSG00000143554 138 0 0 129 16 11.0345 HAX1 0 genome.wustl.edu 37 1 154246391 154246391 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 154246391 154246391 C - DEL HAX1 ENST00000483970 human ensembl 74_37 +1 known frame_shift_del c.482 p.Q163fs 0.033 pirsf_HS1--assoc_X-1 pirsf_HS1--assoc_X-1 - no_errors HAX1 HGNC ENSG00000143575 145 0 0 139 16 10.3226 THBS3 0 genome.wustl.edu 37 1 155177624 155177626 + In_Frame_Del DEL AGG AGG - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 155177624 155177626 AGG - DEL THBS3 ENST00000368378 human ensembl 74_37 -1 known in_frame_del c.44_42 p.L15in_frame_del 1.000:1.000:1.000 NULL pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors THBS3 HGNC ENSG00000169231 128 0 0 103 8 7.20721 HDGF 0 genome.wustl.edu 37 1 156715104 156715104 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 156715104 156715104 A - DEL HDGF ENST00000368206 human ensembl 74_37 -1 known frame_shift_del c.197 p.F66fs 1.000 pfam_PWWP_dom pfam_PWWP_dom - no_errors HDGF HGNC ENSG00000143321 23 0 0 39 6 13.3333 ARHGEF11 0 genome.wustl.edu 37 1 156918292 156918293 + Splice_Site INS - - G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 156918292 156918293 - G INS ARHGEF11 ENST00000368194 human ensembl 74_37 -1 known splice_site_ins c.1926-3_1926-2 e23-2 1.000:0.950 - - - no_errors ARHGEF11 HGNC ENSG00000132694 72 0 0 97 8 7.61905 PYHIN1 0 genome.wustl.edu 37 1 158906961 158906961 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 158906961 158906961 A - DEL PYHIN1 ENST00000368140 human ensembl 74_37 +1 known frame_shift_del c.261 p.V89fs 0.747 NULL pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors PYHIN1 HGNC ENSG00000163564 59 0 0 59 13 18.0556 EPHA2 0 genome.wustl.edu 37 1 16475183 16475183 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 16475183 16475183 C - DEL EPHA2 ENST00000358432 human ensembl 74_37 -1 known frame_shift_del c.513 p.P172fs 0.998 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA2 HGNC ENSG00000142627 32 0 0 22 6 21.4286 ILDR2 0 genome.wustl.edu 37 1 166926055 166926056 + Frame_Shift_Ins INS - - C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 166926055 166926056 - C INS ILDR2 ENST00000271417 human ensembl 74_37 -1 known frame_shift_ins c.414_413 p.D139fs 1.000:1.000 smart_Ig_sub pfam_LISCH7,smart_Ig_sub - no_errors ILDR2 HGNC ENSG00000143195 47 0 0 58 10 14.7059 CCDC181 0 genome.wustl.edu 37 1 169366579 169366580 + Frame_Shift_Ins INS - - T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 169366579 169366580 - T INS CCDC181 ENST00000367806 human ensembl 74_37 -1 known frame_shift_ins c.1266_1265 p.H423fs 1.000:1.000 NULL NULL - no_errors CCDC181 HGNC ENSG00000117477 25 0 0 28 4 12.5 PAPPA2 0 genome.wustl.edu 37 1 176762724 176762724 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 176762724 176762724 C - DEL PAPPA2 ENST00000367662 human ensembl 74_37 +1 known frame_shift_del c.5049 p.S1686fs 0.506 NULL pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 165 0 0 162 25 13.369 PIK3C2B 0 genome.wustl.edu 37 1 204438071 204438072 + Frame_Shift_Ins INS - - G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 204438071 204438072 - G INS PIK3C2B ENST00000367187 human ensembl 74_37 -1 known frame_shift_ins c.860_859 p.R287fs 1.000:0.985 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2B HGNC ENSG00000133056 102 0 0 99 14 12.3894 CR2 0 genome.wustl.edu 37 1 207642044 207642044 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 207642044 207642044 C - DEL CR2 ENST00000367057 human ensembl 74_37 +1 known frame_shift_del c.618 p.T209fs 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR2 HGNC ENSG00000117322 182 0 0 204 36 15 LAMB3 0 genome.wustl.edu 37 1 209823320 209823320 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 209823320 209823320 G - DEL LAMB3 ENST00000356082 human ensembl 74_37 -1 known frame_shift_del c.172 p.Q58fs 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB3 HGNC ENSG00000196878 106 0 0 90 16 15.0943 EPRS 0 genome.wustl.edu 37 1 220157578 220157578 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 220157578 220157578 T - DEL EPRS ENST00000366923 human ensembl 74_37 -1 known frame_shift_del c.3060 p.E1021fs 1.000 tigrfam_Pro-tRNA-ligase_IIa_arc-type pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_arc/euk - no_errors EPRS HGNC ENSG00000136628 91 0 0 86 10 10.4167 ZBTB40 0 genome.wustl.edu 37 1 22817980 22817981 + Frame_Shift_Ins INS - - A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 22817980 22817981 - A INS ZBTB40 ENST00000375647 human ensembl 74_37 +1 known frame_shift_ins c.785_786 p.L265fs 0.931:0.926 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 ZBTB40 HGNC ENSG00000184677 52 0 0 65 16 19.7531 OBSCN 0 genome.wustl.edu 37 1 228491466 228491466 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 228491466 228491466 C - DEL OBSCN ENST00000366707 human ensembl 74_37 +1 known frame_shift_del c.3899 p.V1302fs 0.162 pfam_Ig_I-set,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_DH-domain,pfam_Fibronectin_type3,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 95 0 0 94 30 24.1935 TRIM17 0 genome.wustl.edu 37 1 228596778 228596779 + Frame_Shift_Ins INS - - C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 228596778 228596779 - C INS TRIM17 ENST00000456946 human ensembl 74_37 -1 known frame_shift_ins c.978_977 p.S327fs 0.000:0.000 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM17 HGNC ENSG00000162931 24 0 0 25 5 16.6667 ACTA1 0 genome.wustl.edu 37 1 229567546 229567547 + Frame_Shift_Ins INS - - C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 229567546 229567547 - C INS ACTA1 ENST00000366684 human ensembl 74_37 -1 known frame_shift_ins c.912_911 p.T305fs 1.000:1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTA1 HGNC ENSG00000143632 146 0 0 152 9 5.59006 COG2 0 genome.wustl.edu 37 1 230825715 230825716 + RNA INS - - G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 230825715 230825716 - G INS COG2 ENST00000478710 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors COG2 HGNC ENSG00000135775 113 0 0 93 22 19.1304 SPRTN 0 genome.wustl.edu 37 1 231487256 231487256 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 231487256 231487256 A - DEL SPRTN ENST00000295050 human ensembl 74_37 +1 known frame_shift_del c.657 p.G222fs 0.002 NULL pfam_SprT-like_domain,smart_SprT-like_domain,smart_Znf_Rad18_put - no_errors SPRTN HGNC ENSG00000010072 52 0 0 57 12 17.3913 LUZP1 0 genome.wustl.edu 37 1 23419318 23419319 + Frame_Shift_Ins INS - - G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 23419318 23419319 - G INS LUZP1 ENST00000302291 human ensembl 74_37 -1 known frame_shift_ins c.1437_1436 p.A480fs 0.217:0.997 NULL NULL - no_errors LUZP1 HGNC ENSG00000169641 132 0 0 148 8 5.12821 C1orf101 0 genome.wustl.edu 37 1 244724287 244724287 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 244724287 244724287 T - DEL C1orf101 ENST00000366531 human ensembl 74_37 +1 known frame_shift_del c.894 p.F299fs 0.049 NULL NULL - no_errors C1orf101 HGNC ENSG00000179397 234 0 0 265 45 14.5161 PDIK1L 0 genome.wustl.edu 37 1 26448379 26448381 + In_Frame_Del DEL TAT TAT - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 TAT TAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 26448379 26448381 TAT - DEL PDIK1L ENST00000374269 human ensembl 74_37 +1 known in_frame_del c.337_339 p.Y114in_frame_del 1.000:1.000:1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PDIK1L HGNC ENSG00000175087 50 0 0 70 15 17.6471 CNKSR1 0 genome.wustl.edu 37 1 26514777 26514778 + Frame_Shift_Ins INS - - C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 26514777 26514778 - C INS CNKSR1 ENST00000374253 human ensembl 74_37 +1 known frame_shift_ins c.1528_1529 p.P513fs 0.000:0.000 NULL pfam_CRIC_domain_Chordata,pfam_Pleckstrin_homology,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR1 HGNC ENSG00000142675 93 0 0 118 12 9.23077 ARID1A 0 genome.wustl.edu 37 1 27100176 27100176 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 27100176 27100176 C - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.3972 p.P1326fs 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 94 0 0 100 12 10.7143 AHDC1 0 genome.wustl.edu 37 1 27876869 27876869 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 27876869 27876869 T - DEL AHDC1 ENST00000247087 human ensembl 74_37 -1 known frame_shift_del c.1758 p.K586fs 0.415 NULL NULL - no_errors AHDC1 HGNC ENSG00000126705 37 0 0 65 9 12.1622 RAB42 0 genome.wustl.edu 37 1 28920547 28920547 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 28920547 28920547 G - DEL RAB42 ENST00000373826 human ensembl 74_37 +1 known frame_shift_del c.236 p.G81fs 1.000 superfamily_P-loop_NTPase pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,prints_Small_GTPase - no_errors RAB42 HGNC ENSG00000188060 42 0 0 45 6 11.7647 CSMD2 0 genome.wustl.edu 37 1 34166207 34166207 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 34166207 34166207 C - DEL CSMD2 ENST00000373381 human ensembl 74_37 -1 known frame_shift_del c.3643 p.V1215fs 0.389 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 CSMD2 HGNC ENSG00000121904 92 0 0 95 21 18.1034 DLGAP3 0 genome.wustl.edu 37 1 35365851 35365852 + Frame_Shift_Ins INS - - C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 35365851 35365852 - C INS DLGAP3 ENST00000235180 human ensembl 74_37 -1 known frame_shift_ins c.1131_1130 p.Y378fs 0.952:1.000 NULL pfam_GKAP - no_errors DLGAP3 HGNC ENSG00000116544 121 0 0 106 13 10.9244 DLGAP3 0 genome.wustl.edu 37 1 35365852 35365852 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 35365852 35365852 C - DEL DLGAP3 ENST00000235180 human ensembl 74_37 -1 known frame_shift_del c.1130 p.G377fs 1.000 NULL pfam_GKAP - no_errors DLGAP3 HGNC ENSG00000116544 120 1 0.826446 102 17 14.2857 HYI 0 genome.wustl.edu 37 1 43919088 43919088 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 43919088 43919088 C - DEL HYI ENST00000372425 human ensembl 74_37 -1 known frame_shift_del c.280 p.V94fs 0.795 pfam_Xyl_isomerase-like_TIM-brl,superfamily_Xyl_isomerase-like_TIM-brl pfam_Xyl_isomerase-like_TIM-brl,superfamily_Xyl_isomerase-like_TIM-brl - no_errors HYI HGNC ENSG00000178922 9 0 0 6 4 40 TMEM69 0 genome.wustl.edu 37 1 46159546 46159546 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 46159546 46159546 A - DEL TMEM69 ENST00000372025 human ensembl 74_37 +1 known frame_shift_del c.713 p.G240fs 1.000 NULL pfam_DUF3429 - no_errors TMEM69 HGNC ENSG00000159596 25 0 0 21 8 27.5862 CHD5 0 genome.wustl.edu 37 1 6196693 6196693 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 6196693 6196693 A - DEL CHD5 ENST00000262450 human ensembl 74_37 -1 known frame_shift_del c.2580 p.F860fs 0.996 pfam_SNF2_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC ENSG00000116254 53 0 0 92 11 10.6796 RPL22 0 genome.wustl.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 6257785 6257785 T - DEL RPL22 ENST00000234875 human ensembl 74_37 -1 known frame_shift_del c.44 p.K15fs 1.000 pfam_Ribosomal_L22e pfam_Ribosomal_L22e - no_errors RPL22 HGNC ENSG00000116251 55 0 0 45 11 19.6429 CACHD1 0 genome.wustl.edu 37 1 65138880 65138880 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 65138880 65138880 C - DEL CACHD1 ENST00000371073 human ensembl 74_37 +1 known frame_shift_del c.2550 p.P851fs 0.996 pfam_Cache_domain pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A - no_errors CACHD1 HGNC ENSG00000158966 207 0 0 249 22 8.11808 LRRIQ3 0 genome.wustl.edu 37 1 74507493 74507493 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 74507493 74507493 T - DEL LRRIQ3 ENST00000354431 human ensembl 74_37 -1 known frame_shift_del c.1122 p.K374fs 0.001 NULL pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ3 HGNC ENSG00000162620 68 0 0 113 13 10.3175 NEXN 0 genome.wustl.edu 37 1 78392424 78392424 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 78392424 78392424 A - DEL NEXN ENST00000334785 human ensembl 74_37 +1 known frame_shift_del c.711 p.E240fs 0.000 NULL pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors NEXN HGNC ENSG00000162614 44 0 0 44 15 25.4237 ELTD1 0 genome.wustl.edu 37 1 79357234 79357234 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 79357234 79357234 A - DEL ELTD1 ENST00000370742 human ensembl 74_37 -1 known frame_shift_del c.1985 p.L662fs 1.000 pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors ELTD1 HGNC ENSG00000162618 44 0 0 52 8 13.3333 TTLL7 0 genome.wustl.edu 37 1 84408217 84408217 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 84408217 84408217 T - DEL TTLL7 ENST00000260505 human ensembl 74_37 -1 known frame_shift_del c.652 p.I218fs 1.000 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL7 HGNC ENSG00000137941 71 0 0 86 9 9.47368 DPYD 0 genome.wustl.edu 37 1 98157258 98157259 + RNA INS - - T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 1 98157258 98157259 - T INS DPYD ENST00000474241 human ensembl 74_37 -1 known rna NULL NULL 0.887:0.891 - - - no_errors DPYD HGNC ENSG00000188641 35 0 0 34 9 20.9302 CWF19L1 0 genome.wustl.edu 37 10 101992924 101992926 + RNA DEL AAA AAA - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 101992924 101992926 AAA - DEL CWF19L1 ENST00000468709 human ensembl 74_37 -1 known rna NULL NULL 0.167:0.180:0.200 - - - no_errors CWF19L1 HGNC ENSG00000095485 18 0 0 33 6 15.3846 PSD 0 genome.wustl.edu 37 10 104176203 104176203 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 104176203 104176203 C - DEL PSD ENST00000020673 human ensembl 74_37 -1 known frame_shift_del c.593 p.G198fs 0.774 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD HGNC ENSG00000059915 17 0 0 28 6 17.6471 GPAM 0 genome.wustl.edu 37 10 113920452 113920453 + Frame_Shift_Ins INS - - A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 113920452 113920453 - A INS GPAM ENST00000348367 human ensembl 74_37 -1 known frame_shift_ins c.1669_1668 p.I556fs 1.000:1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors GPAM HGNC ENSG00000119927 69 0 0 66 13 16.4557 KIAA1598 0 genome.wustl.edu 37 10 118719757 118719757 + RNA DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 118719757 118719757 A - DEL KIAA1598 ENST00000490615 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors KIAA1598 HGNC ENSG00000187164 25 0 0 29 9 23.6842 TACC2 0 genome.wustl.edu 37 10 123970690 123970691 + Frame_Shift_Ins INS - - G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 123970690 123970691 - G INS TACC2 ENST00000334433 human ensembl 74_37 +1 known frame_shift_ins c.6750_6751 p.Q2252fs 0.418:0.945 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 57 0 0 52 11 17.4603 FRMD4A 0 genome.wustl.edu 37 10 13696452 13696452 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 13696452 13696452 G - DEL FRMD4A ENST00000357447 human ensembl 74_37 -1 known frame_shift_del c.3014 p.P1005fs 1.000 NULL pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4A HGNC ENSG00000151474 118 0 0 116 12 9.375 MLLT10 0 genome.wustl.edu 37 10 21962783 21962785 + In_Frame_Del DEL CTC CTC - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 21962783 21962785 CTC - DEL MLLT10 ENST00000307729 human ensembl 74_37 +1 known in_frame_del c.1556_1558 p.P520in_frame_del 1.000:0.990:1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MLLT10 HGNC ENSG00000078403 91 0 0 73 11 13.0952 ANKRD26 0 genome.wustl.edu 37 10 27389241 27389241 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 27389241 27389241 A - DEL ANKRD26 ENST00000436985 human ensembl 74_37 -1 known frame_shift_del c.15 p.F5fs 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 29 0 0 30 6 16.6667 ANK3 0 genome.wustl.edu 37 10 61823946 61823946 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 61823946 61823946 T - DEL ANK3 ENST00000280772 human ensembl 74_37 -1 known frame_shift_del c.12420 p.K4140fs 1.000 pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 60 0 0 68 9 11.6883 ZNF365 0 genome.wustl.edu 37 10 64159513 64159513 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 64159513 64159513 A - DEL ZNF365 ENST00000395254 human ensembl 74_37 +1 known frame_shift_del c.1189 p.K399fs 1.000 NULL NULL - no_errors ZNF365 HGNC ENSG00000138311 12 0 0 14 5 26.3158 CCAR1 0 genome.wustl.edu 37 10 70513778 70513779 + Frame_Shift_Ins INS - - A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 70513778 70513779 - A INS CCAR1 ENST00000265872 human ensembl 74_37 +1 known frame_shift_ins c.1288_1289 p.N432fs 1.000:1.000 NULL pfam_SAP_dom,superfamily_NA-bd_OB-fold,smart_SAP_dom,pfscan_SAP_dom - no_errors CCAR1 HGNC ENSG00000060339 105 0 0 107 12 10.084 CHCHD1 0 genome.wustl.edu 37 10 75541891 75541891 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 75541891 75541891 G - DEL CHCHD1 ENST00000372833 human ensembl 74_37 +1 known frame_shift_del c.58 p.V20fs 0.009 NULL pfam_CHCH,superfamily_Cys_alpha_HP_mot_SF - no_errors CHCHD1 HGNC ENSG00000172586 48 0 0 87 18 17.1429 KIN 0 genome.wustl.edu 37 10 7820854 7820854 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 7820854 7820854 T - DEL KIN ENST00000379562 human ensembl 74_37 -1 known frame_shift_del c.505 p.T169fs 1.000 pfam_DNA/RNA-bd_Kin17_cons_domain pfam_DNA/RNA-bd_Kin17_cons_domain - no_errors KIN HGNC ENSG00000151657 135 0 0 163 14 7.9096 MYOF 0 genome.wustl.edu 37 10 95113647 95113648 + Splice_Site INS - - A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 95113647 95113648 - A INS MYOF ENST00000359263 human ensembl 74_37 -1 known splice_site_ins c.3404-3_3404-2 e32-2 0.997:0.000 - - - no_errors MYOF HGNC ENSG00000138119 63 0 0 58 10 14.7059 SORBS1 0 genome.wustl.edu 37 10 97078077 97078078 + Frame_Shift_Ins INS - - A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 10 97078077 97078078 - A INS SORBS1 ENST00000607232 human ensembl 74_37 -1 known frame_shift_ins c.3817_3816 p.G1272fs 1.000:1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain - no_errors SORBS1 HGNC ENSG00000095637 141 0 0 96 16 14.2857 C11orf88 0 genome.wustl.edu 37 11 111385566 111385566 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 111385566 111385566 C - DEL C11orf88 ENST00000529167 human ensembl 74_37 +1 known frame_shift_del c.57 p.P21fs 0.000 NULL NULL - no_errors C11orf88 HGNC ENSG00000183644 103 0 0 94 8 7.84314 FOXR1 0 genome.wustl.edu 37 11 118850217 118850218 + Frame_Shift_Ins INS - - A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 118850217 118850218 - A INS FOXR1 ENST00000317011 human ensembl 74_37 +1 known frame_shift_ins c.450_451 p.R151fs 0.987:0.985 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXR1 HGNC ENSG00000176302 58 0 0 61 4 6.15385 SRPR 0 genome.wustl.edu 37 11 126137087 126137087 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 126137087 126137087 T - DEL SRPR ENST00000332118 human ensembl 74_37 -1 known frame_shift_del c.509 p.K170fs 0.991 pfam_Sig_recog_particle_rcpt_asu_N pfam_Sig_recog_particle_rcpt_asu_N,pfam_SRP54_GTPase_dom,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom - no_errors SRPR HGNC ENSG00000182934 256 2 0.775194 249 51 17 BRSK2 0 genome.wustl.edu 37 11 1478186 1478187 + In_Frame_Ins INS - - CCC TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 1478186 1478187 - CCC INS BRSK2 ENST00000308230 human ensembl 74_37 +1 known in_frame_ins c.2007_2008 p.673in_frame_insP 0.999:0.998 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BRSK2 HGNC ENSG00000174672 28 0 0 20 2 9.09091 KRTAP5-1 0 genome.wustl.edu 37 11 1606106 1606106 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 1606106 1606106 C - DEL KRTAP5-1 ENST00000382171 human ensembl 74_37 -1 known frame_shift_del c.374 p.G125fs 0.994 NULL NULL - no_errors KRTAP5-1 HGNC ENSG00000205869 207 0 0 173 29 14.3564 ANO5 0 genome.wustl.edu 37 11 22276925 22276925 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 22276925 22276925 T - DEL ANO5 ENST00000324559 human ensembl 74_37 +1 known frame_shift_del c.1189 p.L398fs 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO5 HGNC ENSG00000171714 66 0 0 68 10 12.8205 QSER1 0 genome.wustl.edu 37 11 32997895 32997895 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 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 28 0 0 25 6 19.3548 ART5 0 genome.wustl.edu 37 11 3660980 3660980 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 3660980 3660980 G - DEL ART5 ENST00000359918 human ensembl 74_37 -1 known frame_shift_del c.679 p.H227fs 0.988 pfam_ART,prints_ART pfam_ART,prints_ART - no_errors ART5 HGNC ENSG00000167311 106 0 0 87 17 16.3462 LRP4 0 genome.wustl.edu 37 11 46884240 46884241 + Frame_Shift_Ins INS - - T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 46884240 46884241 - T INS LRP4 ENST00000378623 human ensembl 74_37 -1 known frame_shift_ins c.5302_5301 p.S1767fs 0.999:0.340 NULL pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_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 LRP4 HGNC ENSG00000134569 100 0 0 95 24 20.1681 OR51E2 0 genome.wustl.edu 37 11 4703475 4703475 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 4703475 4703475 A - DEL OR51E2 ENST00000396950 human ensembl 74_37 -1 known frame_shift_del c.467 p.F156fs 0.027 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51E2 HGNC ENSG00000167332 63 0 0 73 7 8.75 ZDHHC5 0 genome.wustl.edu 37 11 57466855 57466857 + In_Frame_Del DEL AGA AGA - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 57466855 57466857 AGA - DEL ZDHHC5 ENST00000287169 human ensembl 74_37 +1 known in_frame_del c.1947_1949 p.E651in_frame_del 0.122:0.994:1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC5 HGNC ENSG00000156599 70 0 0 78 12 13.3333 DTX4 0 genome.wustl.edu 37 11 58949688 58949688 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 58949688 58949688 C - DEL DTX4 ENST00000227451 human ensembl 74_37 +1 known frame_shift_del c.688 p.P231fs 0.161 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 25 0 0 21 2 8.69565 MS4A7 0 genome.wustl.edu 37 11 60154225 60154225 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 60154225 60154225 A - DEL MS4A7 ENST00000300184 human ensembl 74_37 +1 known frame_shift_del c.318 p.K107fs 0.016 pfam_CD20-like pfam_CD20-like - no_errors MS4A7 HGNC ENSG00000166927 93 0 0 103 9 8.03571 VEGFB 0 genome.wustl.edu 37 11 64004663 64004663 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 64004663 64004663 A - DEL VEGFB ENST00000309422 human ensembl 74_37 +1 known frame_shift_del c.379 p.K129fs 1.000 pfscan_PDGF/VEGF_dom pfam_PDGF/VEGF_dom,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors VEGFB HGNC ENSG00000173511 87 0 0 77 13 14.4444 SHANK2 0 genome.wustl.edu 37 11 70319348 70319348 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 70319348 70319348 G - DEL SHANK2 ENST00000338508 human ensembl 74_37 -1 known frame_shift_del c.5179 p.L1727fs 0.635 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 107 0 0 94 20 17.5439 ARHGEF17 0 genome.wustl.edu 37 11 73021527 73021527 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 73021527 73021527 C - DEL ARHGEF17 ENST00000263674 human ensembl 74_37 +1 known frame_shift_del c.1844 p.P617fs 0.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF17 HGNC ENSG00000110237 79 0 0 73 6 7.59494 ENSG00000254420 0 genome.wustl.edu 37 11 78154811 78154812 + RNA DEL AA AA - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 78154811 78154812 AA - DEL ENSG00000254420 ENST00000534168 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.006 - - - no_errors RP11-452H21.1 Clone_based_vega_gene ENSG00000254420 26 0 0 28 8 22.2222 SWAP70 0 genome.wustl.edu 37 11 9735070 9735070 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 11 9735070 9735070 A - DEL SWAP70 ENST00000318950 human ensembl 74_37 +1 known frame_shift_del c.298 p.N102fs 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_EF_hand_dom,pfscan_Pleckstrin_homology - no_errors SWAP70 HGNC ENSG00000133789 43 0 0 64 8 11.1111 NR1H4 0 genome.wustl.edu 37 12 100957095 100957095 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 100957095 100957095 A - DEL NR1H4 ENST00000551379 human ensembl 74_37 +1 known frame_shift_del c.1289 p.K431fs 0.998 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt - no_errors NR1H4 HGNC ENSG00000012504 81 0 0 62 12 16.2162 CHPT1 0 genome.wustl.edu 37 12 102108338 102108338 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 102108338 102108338 T - DEL CHPT1 ENST00000229266 human ensembl 74_37 +1 known frame_shift_del c.478 p.F162fs 0.989 pfam_CDP-OH_P_trans,pirsf_CHOPT pfam_CDP-OH_P_trans,pirsf_CHOPT - no_errors CHPT1 HGNC ENSG00000111666 60 0 0 57 13 18.5714 CCDC63 0 genome.wustl.edu 37 12 111311659 111311660 + Frame_Shift_Del DEL AA AA - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 111311659 111311660 AA - DEL CCDC63 ENST00000308208 human ensembl 74_37 +1 known frame_shift_del c.383_384 p.K130fs 0.872:0.037 NULL NULL - no_errors CCDC63 HGNC ENSG00000173093 53 0 0 56 10 15.1515 FBXW8 0 genome.wustl.edu 37 12 117387463 117387464 + Frame_Shift_Del DEL AC AC - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 117387463 117387464 AC - DEL FBXW8 ENST00000309909 human ensembl 74_37 +1 known frame_shift_del c.629_630 p.T211fs 0.994:0.755 smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom,superfamily_Quinonprotein_ADH-like_supfam,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW8 HGNC ENSG00000174989 237 0 0 201 16 7.37327 RNF10 0 genome.wustl.edu 37 12 121014514 121014514 + RNA DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 121014514 121014514 T - DEL RNF10 ENST00000535470 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors RNF10 HGNC ENSG00000022840 88 0 0 83 14 14.433 SBNO1 0 genome.wustl.edu 37 12 123794282 123794283 + Frame_Shift_Ins INS - - T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 123794282 123794283 - T INS SBNO1 ENST00000420886 human ensembl 74_37 -1 known frame_shift_ins c.3417_3416 p.N1139fs 1.000:1.000 NULL pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Prismane-like - no_errors SBNO1 HGNC ENSG00000139697 132 0 0 130 22 14.4737 DUSP16 0 genome.wustl.edu 37 12 12672866 12672867 + Frame_Shift_Del DEL AG AG - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 12672866 12672867 AG - DEL DUSP16 ENST00000228862 human ensembl 74_37 -1 known frame_shift_del c.297_296 p.S99fs 0.679:0.963 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom 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 52 0 0 74 12 13.9535 SLCO1C1 0 genome.wustl.edu 37 12 20885884 20885884 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 20885884 20885884 G - DEL SLCO1C1 ENST00000381552 human ensembl 74_37 +1 known frame_shift_del c.1228 p.I412fs 1.000 pfam_OA_transporter,pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO1C1 HGNC ENSG00000139155 107 0 0 89 13 12.7451 FAM60A 0 genome.wustl.edu 37 12 31448178 31448178 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 31448178 31448178 T - DEL FAM60A ENST00000337682 human ensembl 74_37 -1 known frame_shift_del c.218 p.N73fs 1.000 NULL NULL - no_errors FAM60A HGNC ENSG00000139146 29 0 0 20 5 20 DYRK4 0 genome.wustl.edu 37 12 4719362 4719362 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 4719362 4719362 A - DEL DYRK4 ENST00000010132 human ensembl 74_37 +1 known frame_shift_del c.1057 p.R355fs 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DYRK4 HGNC ENSG00000010219 57 0 0 58 19 24.6753 KMT2D 0 genome.wustl.edu 37 12 49445500 49445500 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 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 77 0 0 59 10 14.4928 NCKAP5L 0 genome.wustl.edu 37 12 50187523 50187525 + In_Frame_Del DEL AGG AGG - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 50187523 50187525 AGG - DEL NCKAP5L ENST00000335999 human ensembl 74_37 -1 known in_frame_del c.3252_3250 p.P1084in_frame_del 0.995:0.993:0.915 NULL NULL - no_errors NCKAP5L HGNC ENSG00000167566 14 0 0 16 4 20 AQP6 0 genome.wustl.edu 37 12 50368216 50368216 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 50368216 50368216 C - DEL AQP6 ENST00000315520 human ensembl 74_37 +1 known frame_shift_del c.512 p.P172fs 1.000 pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_6,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_6,tigrfam_MIP - no_errors AQP6 HGNC ENSG00000086159 49 0 0 58 9 13.4328 PCBP2 0 genome.wustl.edu 37 12 53856278 53856278 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 53856278 53856278 C - DEL PCBP2 ENST00000603815 human ensembl 74_37 +1 known frame_shift_del c.518 p.P175fs 1.000 NULL pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors PCBP2 HGNC ENSG00000197111 57 0 0 53 10 15.873 CDK2 0 genome.wustl.edu 37 12 56361582 56361582 + RNA DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 56361582 56361582 G - DEL CDK2 ENST00000556146 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CDK2 HGNC ENSG00000123374 27 0 0 17 4 19.0476 NACA 0 genome.wustl.edu 37 12 57111396 57111396 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 57111396 57111396 G - DEL NACA ENST00000454682 human ensembl 74_37 -1 known frame_shift_del c.3918 p.A1309fs 0.000 NULL pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors NACA HGNC ENSG00000196531 43 0 0 51 5 8.92857 ZBTB39 0 genome.wustl.edu 37 12 57397473 57397475 + In_Frame_Del DEL AAG AAG - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 57397473 57397475 AAG - DEL ZBTB39 ENST00000300101 human ensembl 74_37 -1 known in_frame_del c.1229_1227 p.F410in_frame_del 1.000:1.000:0.999 smart_Znf_C2H2-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB39 HGNC ENSG00000166860 46 0 0 57 10 14.9254 MBD6 0 genome.wustl.edu 37 12 57921731 57921732 + Frame_Shift_Ins INS - - G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 57921731 57921732 - G INS MBD6 ENST00000355673 human ensembl 74_37 +1 known frame_shift_ins c.2337_2338 p.A782fs 1.000:1.000 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 37 0 0 39 7 15.2174 KRR1 0 genome.wustl.edu 37 12 75893593 75893593 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 75893593 75893593 T - DEL KRR1 ENST00000229214 human ensembl 74_37 -1 known frame_shift_del c.1142 p.K381fs 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom - no_errors KRR1 HGNC ENSG00000111615 24 0 0 24 6 20 VEZT 0 genome.wustl.edu 37 12 95663938 95663939 + Frame_Shift_Ins INS - - T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 95663938 95663939 - T INS VEZT ENST00000436874 human ensembl 74_37 +1 known frame_shift_ins c.822_823 p.L274fs 0.987:1.000 NULL NULL - no_errors VEZT HGNC ENSG00000028203 21 0 0 17 6 26.087 IKBIP 0 genome.wustl.edu 37 12 99007790 99007790 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 12 99007790 99007790 T - DEL IKBIP ENST00000342502 human ensembl 74_37 -1 known frame_shift_del c.626 p.N209fs 0.000 NULL NULL - no_errors IKBIP HGNC ENSG00000166130 20 0 0 22 6 21.4286 TFDP1 0 genome.wustl.edu 37 13 114288216 114288217 + Frame_Shift_Ins INS - - A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 13 114288216 114288217 - A INS TFDP1 ENST00000375370 human ensembl 74_37 +1 known frame_shift_ins c.486_487 p.N163fs 1.000:1.000 pfam_E2F_TDP,pirsf_Transcrpt_fac_DP pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcrpt_fac_DP - no_errors TFDP1 HGNC ENSG00000198176 105 0 0 95 16 14.4144 PSPC1 0 genome.wustl.edu 37 13 20346616 20346617 + Frame_Shift_Del DEL AG AG - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 13 20346616 20346617 AG - DEL PSPC1 ENST00000338910 human ensembl 74_37 -1 known frame_shift_del c.440_439 p.L147fs 1.000:1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors PSPC1 HGNC ENSG00000121390 121 0 0 89 11 11 SACS 0 genome.wustl.edu 37 13 23905203 23905203 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 13 23905203 23905203 G - DEL SACS ENST00000382292 human ensembl 74_37 -1 known frame_shift_del c.12812 p.P4271fs 1.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 60 0 0 45 11 19.6429 WASF3 0 genome.wustl.edu 37 13 27255387 27255387 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 13 27255387 27255387 C - DEL WASF3 ENST00000335327 human ensembl 74_37 +1 known frame_shift_del c.913 p.P307fs 0.975 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF3 HGNC ENSG00000132970 68 0 0 59 9 13.2353 NBEA 0 genome.wustl.edu 37 13 35733663 35733663 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 13 35733663 35733663 A - DEL NBEA ENST00000310336 human ensembl 74_37 +1 known frame_shift_del c.3355 p.N1121fs 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 25 0 0 23 8 25.8065 DCLK1 0 genome.wustl.edu 37 13 36397008 36397008 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 13 36397008 36397008 C - DEL DCLK1 ENST00000360631 human ensembl 74_37 -1 known frame_shift_del c.1412 p.G471fs 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_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK1 HGNC ENSG00000133083 95 0 0 74 12 13.9535 ZC3H13 0 genome.wustl.edu 37 13 46577381 46577381 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 13 46577381 46577381 T - DEL ZC3H13 ENST00000242848 human ensembl 74_37 -1 known frame_shift_del c.837 p.K279fs 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 44 0 0 67 10 12.987 CKAP2 0 genome.wustl.edu 37 13 53049034 53049034 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 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 31 0 0 34 9 20.9302 MBNL2 0 genome.wustl.edu 37 13 98009742 98009742 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 13 98009742 98009742 C - DEL MBNL2 ENST00000376673 human ensembl 74_37 +1 known frame_shift_del c.811 p.P272fs 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors MBNL2 HGNC ENSG00000139793 100 0 0 95 7 6.86275 DOCK9 0 genome.wustl.edu 37 13 99520200 99520200 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 13 99520200 99520200 A - DEL DOCK9 ENST00000339416 human ensembl 74_37 -1 known frame_shift_del c.3159 p.F1053fs 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK9 HGNC ENSG00000088387 40 0 0 36 5 12.1951 EVL 0 genome.wustl.edu 37 14 100594927 100594927 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 100594927 100594927 C - DEL EVL ENST00000392920 human ensembl 74_37 +1 known frame_shift_del c.559 p.P189fs 1.000 pirsf_Vasodilator_phosphoprotein pfam_WH1/EVH1,pfam_VASP_tetra,smart_WH1/EVH1,pirsf_Vasodilator_phosphoprotein,pfscan_WH1/EVH1 - no_errors EVL HGNC ENSG00000196405 51 0 0 64 8 11.1111 PPP1R13B 0 genome.wustl.edu 37 14 104208418 104208418 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 104208418 104208418 G - DEL PPP1R13B ENST00000202556 human ensembl 74_37 -1 known frame_shift_del c.1531 p.Q511fs 0.045 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 PPP1R13B HGNC ENSG00000088808 175 0 0 143 30 17.341 SALL2 0 genome.wustl.edu 37 14 21993446 21993446 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 21993446 21993446 C - DEL SALL2 ENST00000327430 human ensembl 74_37 -1 known frame_shift_del c.416 p.G139fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL2 HGNC ENSG00000165821 134 0 0 107 12 10.084 ACIN1 0 genome.wustl.edu 37 14 23549379 23549379 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 23549379 23549379 C - DEL ACIN1 ENST00000262710 human ensembl 74_37 -1 known frame_shift_del c.1339 p.A447fs 0.998 NULL pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom - no_errors ACIN1 HGNC ENSG00000100813 69 0 0 92 15 14.0187 RALGAPA1 0 genome.wustl.edu 37 14 36064948 36064949 + Frame_Shift_Ins INS - - T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 36064948 36064949 - T INS RALGAPA1 ENST00000258840 human ensembl 74_37 -1 known frame_shift_ins c.5724_5723 p.N1908fs 1.000:1.000 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA1 HGNC ENSG00000174373 48 0 0 33 11 25 RALGAPA1 0 genome.wustl.edu 37 14 36064949 36064949 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 36064949 36064949 T - DEL RALGAPA1 ENST00000258840 human ensembl 74_37 -1 known frame_shift_del c.5723 p.N1908fs 1.000 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA1 HGNC ENSG00000174373 48 0 0 40 4 9.09091 NID2 0 genome.wustl.edu 37 14 52508901 52508901 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 52508901 52508901 G - DEL NID2 ENST00000216286 human ensembl 74_37 -1 known frame_shift_del c.1747 p.L583fs 0.898 pfam_G2_nidogen/fibulin_G2F,superfamily_GFP,smart_G2_nidogen/fibulin_G2F,pfscan_G2_nidogen/fibulin_G2F 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 212 0 0 245 26 9.5941 SAMD4A 0 genome.wustl.edu 37 14 55203892 55203892 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 55203892 55203892 C - DEL SAMD4A ENST00000392067 human ensembl 74_37 +1 known frame_shift_del c.866 p.L291fs 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM - no_errors SAMD4A HGNC ENSG00000020577 268 1 0.371747 288 37 11.3846 ADAM21P1 0 genome.wustl.edu 37 14 70713306 70713306 + RNA DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 70713306 70713306 A - DEL ADAM21P1 ENST00000530196 human ensembl 74_37 -1 known rna NULL NULL 0.244 - - - no_errors ADAM21P1 HGNC ENSG00000235812 278 0 0 267 25 8.56164 VRTN 0 genome.wustl.edu 37 14 74824462 74824463 + Frame_Shift_Ins INS - - G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 74824462 74824463 - G INS VRTN ENST00000256362 human ensembl 74_37 +1 known frame_shift_ins c.976_977 p.V329fs 0.998:0.994 NULL pfam_Transposase_8 - no_errors VRTN HGNC ENSG00000133980 168 0 0 131 22 14.3791 TSHR 0 genome.wustl.edu 37 14 81609513 81609513 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 81609513 81609513 A - DEL TSHR ENST00000298171 human ensembl 74_37 +1 known frame_shift_del c.1111 p.N372fs 1.000 prints_TSH_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_TSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_FSH_rcpt,prints_LSH_rcpt - no_errors TSHR HGNC ENSG00000165409 58 0 0 49 11 18.3333 RIN3 0 genome.wustl.edu 37 14 93118771 93118772 + Frame_Shift_Ins INS - - C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 93118771 93118772 - C INS RIN3 ENST00000216487 human ensembl 74_37 +1 known frame_shift_ins c.1377_1378 p.R461fs 0.973:0.995 NULL pfam_VPS9,smart_SH2,smart_VPS9_subgr,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN3 HGNC ENSG00000100599 127 0 0 129 15 10.4167 ATG2B 0 genome.wustl.edu 37 14 96788614 96788615 + RNA DEL AA AA - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 14 96788614 96788615 AA - DEL ATG2B ENST00000488421 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors ATG2B HGNC ENSG00000066739 51 0 0 44 7 13.7255 CHSY1 0 genome.wustl.edu 37 15 101717648 101717648 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 15 101717648 101717648 T - DEL CHSY1 ENST00000254190 human ensembl 74_37 -1 known frame_shift_del c.2354 p.N785fs 0.999 NULL pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHSY1 HGNC ENSG00000131873 88 0 0 59 15 20.2703 TARSL2 0 genome.wustl.edu 37 15 102224292 102224292 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 15 102224292 102224292 A - DEL TARSL2 ENST00000335968 human ensembl 74_37 -1 known frame_shift_del c.1636 p.C546fs 1.000 pfam_aa-tRNA-synt_IIb_cons-dom,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARSL2 HGNC ENSG00000185418 58 0 0 31 7 18.4211 GOLGA8EP 0 genome.wustl.edu 37 15 23444751 23444752 + RNA DEL AG AG - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 15 23444751 23444752 AG - DEL GOLGA8EP ENST00000526079 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors GOLGA8EP HGNC ENSG00000175676 183 0 0 168 17 9.18919 MAGEL2 0 genome.wustl.edu 37 15 23890894 23890894 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 15 23890894 23890894 G - DEL MAGEL2 ENST00000532292 human ensembl 74_37 -1 known frame_shift_del c.187 p.Q63fs 0.990 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC ENSG00000254585 8 0 0 6 2 25 ARHGAP11A 0 genome.wustl.edu 37 15 32925295 32925296 + Frame_Shift_Ins INS - - A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 15 32925295 32925296 - A INS ARHGAP11A ENST00000361627 human ensembl 74_37 +1 known frame_shift_ins c.1221_1222 p.V409fs 1.000:1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP11A HGNC ENSG00000198826 88 0 0 92 12 11.5385 C15orf53 0 genome.wustl.edu 37 15 38988856 38988857 + Frame_Shift_Ins INS - - C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 15 38988856 38988857 - C INS C15orf53 ENST00000318792 human ensembl 74_37 +1 known frame_shift_ins c.48_49 p.R17fs 0.000:0.007 NULL NULL - no_errors C15orf53 HGNC ENSG00000175779 83 0 0 76 10 11.6279 BUB1B 0 genome.wustl.edu 37 15 40477506 40477506 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 15 40477506 40477506 C - DEL BUB1B ENST00000412359 human ensembl 74_37 +1 known frame_shift_del c.934 p.M314fs 1.000 NULL pfam_Mad3_BUB1_I,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I - no_errors BUB1B HGNC ENSG00000156970 196 0 0 171 22 11.399 PLCB2 0 genome.wustl.edu 37 15 40589757 40589757 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 15 40589757 40589757 C - DEL PLCB2 ENST00000260402 human ensembl 74_37 -1 known frame_shift_del c.1288 p.D430fs 1.000 pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB2 HGNC ENSG00000137841 81 0 0 77 8 9.41176 C15orf52 0 genome.wustl.edu 37 15 40631782 40631782 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 15 40631782 40631782 C - DEL C15orf52 ENST00000559313 human ensembl 74_37 -1 known frame_shift_del c.294 p.M99fs 0.991 NULL NULL - no_errors C15orf52 HGNC ENSG00000188549 107 0 0 135 15 10 DMXL2 0 genome.wustl.edu 37 15 51778519 51778519 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 15 51778519 51778519 T - DEL DMXL2 ENST00000543779 human ensembl 74_37 -1 known frame_shift_del c.5233 p.M1745fs 1.000 pfam_Rav1p_C pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 96 0 0 108 11 9.2437 PIGB 0 genome.wustl.edu 37 15 55611484 55611484 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 15 55611484 55611484 G - DEL PIGB ENST00000164305 human ensembl 74_37 +1 known frame_shift_del c.36 p.G14fs 0.003 NULL pfam_GPI_mannosylTrfase - no_errors PIGB HGNC ENSG00000069943 23 0 0 13 6 31.5789 SLTM 0 genome.wustl.edu 37 15 59182636 59182637 + Frame_Shift_Del DEL CT CT - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 15 59182636 59182637 CT - DEL SLTM ENST00000380516 human ensembl 74_37 -1 known frame_shift_del c.1923_1922 p.E641fs 1.000:1.000 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SLTM HGNC ENSG00000137776 85 0 0 86 16 15.6863 ENSG00000225798 0 genome.wustl.edu 37 15 59186206 59186207 + RNA INS - - A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 15 59186206 59186207 - A INS ENSG00000225798 ENST00000452467 human ensembl 74_37 +1 known rna NULL NULL 0.658:0.849 - - - no_errors AC025918.2 Clone_based_vega_gene ENSG00000225798 25 0 0 16 4 20 TRIP4 0 genome.wustl.edu 37 15 64686218 64686218 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 15 64686218 64686218 A - DEL TRIP4 ENST00000261884 human ensembl 74_37 +1 known frame_shift_del c.175 p.G61fs 0.978 NULL pfam_ASCH_domain,pfam_Znf_C2HC5,superfamily_PUA-like_domain - no_errors TRIP4 HGNC ENSG00000103671 61 0 0 62 10 13.8889 ITGA11 0 genome.wustl.edu 37 15 68643093 68643094 + Frame_Shift_Ins INS - - C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 15 68643093 68643094 - C INS ITGA11 ENST00000315757 human ensembl 74_37 -1 known frame_shift_ins c.922_921 p.I307fs 0.998:0.120 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A 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 ITGA11 HGNC ENSG00000137809 66 0 0 60 9 13.0435 GRAMD2 0 genome.wustl.edu 37 15 72459394 72459395 + Frame_Shift_Ins INS - - T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 15 72459394 72459395 - T INS GRAMD2 ENST00000309731 human ensembl 74_37 -1 known frame_shift_ins c.412_411 p.H137fs 1.000:0.988 pfam_GRAM,smart_GRAM pfam_GRAM,smart_GRAM - no_errors GRAMD2 HGNC ENSG00000175318 96 0 0 122 11 8.27068 C15orf39 0 genome.wustl.edu 37 15 75499804 75499804 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 15 75499804 75499804 C - DEL C15orf39 ENST00000360639 human ensembl 74_37 +1 known frame_shift_del c.1415 p.P474fs 0.848 NULL NULL - no_errors C15orf39 HGNC ENSG00000167173 93 0 0 72 10 12.1951 FBXO22 0 genome.wustl.edu 37 15 76225438 76225439 + In_Frame_Ins INS - - AAT TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 15 76225438 76225439 - AAT INS FBXO22 ENST00000308275 human ensembl 74_37 +1 known in_frame_ins c.1207_1208 p.405in_frame_ins 0.369:0.395 NULL pfam_FIST_C_domain,pfam_F-box_dom,superfamily_F-box_dom - no_errors FBXO22 HGNC ENSG00000167196 80 0 0 73 6 7.59494 SRCAP 0 genome.wustl.edu 37 16 30749699 30749699 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 30749699 30749699 G - DEL SRCAP ENST00000262518 human ensembl 74_37 +1 known frame_shift_del c.8338 p.V2781fs 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 58 0 0 48 8 14.2857 SLC5A2 0 genome.wustl.edu 37 16 31496148 31496149 + Frame_Shift_Del DEL CT CT - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 31496148 31496149 CT - DEL SLC5A2 ENST00000330498 human ensembl 74_37 +1 known frame_shift_del c.207_208 p.F72fs 1.000:1.000 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 SLC5A2 HGNC ENSG00000140675 117 0 0 98 14 12.5 ZNF174 0 genome.wustl.edu 37 16 3452110 3452111 + Frame_Shift_Ins INS - - A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 3452110 3452111 - A INS ZNF174 ENST00000268655 human ensembl 74_37 +1 known frame_shift_ins c.106_107 p.N38fs 0.037:0.000 superfamily_Retrov_capsid_C pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF174 HGNC ENSG00000103343 239 0 0 219 27 10.9756 MGRN1 0 genome.wustl.edu 37 16 4700414 4700414 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 4700414 4700414 C - DEL MGRN1 ENST00000262370 human ensembl 74_37 +1 known frame_shift_del c.137 p.H48fs 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors MGRN1 HGNC ENSG00000102858 155 0 0 147 23 13.5294 EXOC3L1 0 genome.wustl.edu 37 16 67220789 67220790 + Splice_Site INS - - G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 67220789 67220790 - G INS EXOC3L1 ENST00000314586 human ensembl 74_37 -1 known splice_site_ins c.1159-3_1159-2 e6-2 0.975:0.075 - - - no_errors EXOC3L1 HGNC ENSG00000179044 97 0 0 118 24 16.9014 DHX38 0 genome.wustl.edu 37 16 72130798 72130799 + Frame_Shift_Del DEL AG AG - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 72130798 72130799 AG - DEL DHX38 ENST00000268482 human ensembl 74_37 +1 known frame_shift_del c.401_402 p.E136fs 1.000:1.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX38 HGNC ENSG00000140829 195 0 0 179 24 11.8227 RBFOX1 0 genome.wustl.edu 37 16 7760731 7760732 + Frame_Shift_Ins INS - - T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 7760731 7760732 - T INS RBFOX1 ENST00000311745 human ensembl 74_37 +1 known frame_shift_ins c.1241_1242 p.A416fs 1.000:1.000 NULL pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX1 HGNC ENSG00000078328 90 0 0 87 13 13 NUDT7 0 genome.wustl.edu 37 16 77775744 77775744 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 16 77775744 77775744 A - DEL NUDT7 ENST00000268533 human ensembl 74_37 +1 known frame_shift_del c.614 p.K207fs 0.000 NULL pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT7 HGNC ENSG00000140876 41 0 0 35 6 14.6341 MAP2K4 0 genome.wustl.edu 37 17 11998923 11998923 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 11998923 11998923 A - DEL MAP2K4 ENST00000415385 human ensembl 74_37 +1 known frame_shift_del c.458 p.K154fs 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 MAP2K4 HGNC ENSG00000065559 91 0 0 76 7 8.43373 NUFIP2 0 genome.wustl.edu 37 17 27614342 27614342 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 27614342 27614342 T - DEL NUFIP2 ENST00000225388 human ensembl 74_37 -1 known frame_shift_del c.670 p.R224fs 1.000 NULL NULL - no_errors NUFIP2 HGNC ENSG00000108256 146 1 0.680272 146 24 14.1176 ZNF830 0 genome.wustl.edu 37 17 33289331 33289332 + Frame_Shift_Ins INS - - T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 33289331 33289332 - T INS ZNF830 ENST00000361952 human ensembl 74_37 +1 known frame_shift_ins c.746_747 p.D252fs 0.011:0.993 NULL smart_Znf_U1 - no_errors ZNF830 HGNC ENSG00000198783 32 0 0 35 7 16.6667 SLFN12L 0 genome.wustl.edu 37 17 33802182 33802182 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 33802182 33802182 T - DEL SLFN12L ENST00000449046 human ensembl 74_37 -1 known frame_shift_del c.1620 p.V541fs 0.050 NULL pfam_ATPase_AAA-4 - no_errors SLFN12L HGNC ENSG00000205045 82 0 0 81 9 10 PEX12 0 genome.wustl.edu 37 17 33905039 33905040 + Frame_Shift_Del DEL AT AT - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 33905039 33905040 AT - DEL PEX12 ENST00000225873 human ensembl 74_37 -1 known frame_shift_del c.2_1 p.M1fs 0.997:0.002 pirsf_PEX12 pfam_Pex_N,pirsf_PEX12 - no_errors PEX12 HGNC ENSG00000108733 74 0 0 61 11 15.2778 MED24 0 genome.wustl.edu 37 17 38188961 38188962 + Frame_Shift_Ins INS - - C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 38188961 38188962 - C INS MED24 ENST00000394128 human ensembl 74_37 -1 known frame_shift_ins c.877_876 p.L292fs 1.000:0.825 pfam_Mediator_Med24_N pfam_Mediator_Med24_N - no_errors MED24 HGNC ENSG00000008838 73 0 0 78 12 13.3333 KRT222 0 genome.wustl.edu 37 17 38818272 38818272 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 38818272 38818272 T - DEL KRT222 ENST00000394052 human ensembl 74_37 -1 known frame_shift_del c.121 p.M41fs 1.000 pfam_IF pfam_IF,prints_Keratin_I - no_errors KRT222 HGNC ENSG00000213424 81 0 0 87 15 14.7059 KRT26 0 genome.wustl.edu 37 17 38926515 38926516 + Frame_Shift_Ins INS - - T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 38926515 38926516 - T INS KRT26 ENST00000335552 human ensembl 74_37 -1 known frame_shift_ins c.671_670 p.S224fs 1.000:1.000 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT26 HGNC ENSG00000186393 69 0 0 65 13 16.6667 STAT5A 0 genome.wustl.edu 37 17 40460269 40460269 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 40460269 40460269 G - DEL STAT5A ENST00000345506 human ensembl 74_37 +1 known frame_shift_del c.1980 p.D662fs 0.992 pfam_SH2,smart_SH2,pfscan_SH2 pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5A HGNC ENSG00000126561 67 0 0 64 6 8.57143 WNK4 0 genome.wustl.edu 37 17 40939870 40939870 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 40939870 40939870 G - DEL WNK4 ENST00000246914 human ensembl 74_37 +1 known frame_shift_del c.1816 p.V608fs 0.004 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK4 HGNC ENSG00000126562 76 0 0 62 13 17.3333 BECN1 0 genome.wustl.edu 37 17 40971572 40971572 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 40971572 40971572 G - DEL BECN1 ENST00000361523 human ensembl 74_37 -1 known frame_shift_del c.254 p.P85fs 1.000 NULL pfam_Beclin_fam,superfamily_Translin - no_errors BECN1 HGNC ENSG00000126581 27 0 0 36 6 14.2857 XYLT2 0 genome.wustl.edu 37 17 48433967 48433968 + Frame_Shift_Del DEL CC CC - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 CC CC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 48433967 48433968 CC - DEL XYLT2 ENST00000017003 human ensembl 74_37 +1 known frame_shift_del c.1578_1579 p.P528fs 1.000:1.000 pfam_XylT pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 85 0 0 73 12 14.1176 TEX14 0 genome.wustl.edu 37 17 56654791 56654791 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 56654791 56654791 T - DEL TEX14 ENST00000240361 human ensembl 74_37 -1 known frame_shift_del c.3403 p.I1135fs 0.016 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors TEX14 HGNC ENSG00000121101 32 0 0 29 3 9.375 PPM1D 0 genome.wustl.edu 37 17 58740624 58740624 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 58740624 58740624 A - DEL PPM1D ENST00000305921 human ensembl 74_37 +1 known frame_shift_del c.1529 p.N512fs 0.997 NULL pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1D HGNC ENSG00000170836 81 0 0 60 15 20 DCAF7 0 genome.wustl.edu 37 17 61657219 61657219 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 61657219 61657219 G - DEL DCAF7 ENST00000310827 human ensembl 74_37 +1 known frame_shift_del c.443 p.L150fs 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF7 HGNC ENSG00000136485 88 0 0 62 7 10.1449 SLC16A6 0 genome.wustl.edu 37 17 66270149 66270150 + Frame_Shift_Ins INS - - C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 66270149 66270150 - C INS SLC16A6 ENST00000327268 human ensembl 74_37 -1 known frame_shift_ins c.295_294 p.L98fs 0.030:0.006 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A6 HGNC ENSG00000108932 49 0 0 51 10 16.3934 ABCA6 0 genome.wustl.edu 37 17 67125767 67125767 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 67125767 67125767 A - DEL ABCA6 ENST00000284425 human ensembl 74_37 -1 known frame_shift_del c.917 p.L306fs 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA6 HGNC ENSG00000154262 108 0 0 94 24 20.339 ST6GALNAC1 0 genome.wustl.edu 37 17 74625215 74625215 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 74625215 74625215 G - DEL ST6GALNAC1 ENST00000156626 human ensembl 74_37 -1 known frame_shift_del c.710 p.P237fs 0.000 NULL pfam_Glyco_trans_29 - no_errors ST6GALNAC1 HGNC ENSG00000070526 72 0 0 71 7 8.97436 SEC14L1 0 genome.wustl.edu 37 17 75208264 75208266 + In_Frame_Del DEL AAG AAG - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 75208264 75208266 AAG - DEL SEC14L1 ENST00000392476 human ensembl 74_37 +1 known in_frame_del c.1844_1846 p.E616in_frame_del 0.329:0.233:1.000 superfamily_GOLD,pfscan_GOLD pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1 - no_errors SEC14L1 HGNC ENSG00000129657 196 0 0 187 28 13.0233 TMC8 0 genome.wustl.edu 37 17 76134211 76134212 + Frame_Shift_Ins INS - - C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 76134211 76134212 - C INS TMC8 ENST00000318430 human ensembl 74_37 +1 known frame_shift_ins c.1475_1476 p.L494fs 1.000:1.000 pfam_TMC pfam_TMC - no_errors TMC8 HGNC ENSG00000167895 128 1 0.775194 113 12 9.6 RAB40B 0 genome.wustl.edu 37 17 80615786 80615786 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 17 80615786 80615786 G - DEL RAB40B ENST00000571995 human ensembl 74_37 -1 known frame_shift_del c.790 p.Q264fs 1.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB40B HGNC ENSG00000141542 118 1 0.840336 168 13 7.18232 ESCO1 0 genome.wustl.edu 37 18 19154054 19154054 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 18 19154054 19154054 T - DEL ESCO1 ENST00000269214 human ensembl 74_37 -1 known frame_shift_del c.751 p.M251fs 0.000 NULL NULL - no_errors ESCO1 HGNC ENSG00000141446 275 0 0 309 46 12.9577 NPC1 0 genome.wustl.edu 37 18 21118569 21118569 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 18 21118569 21118569 C - DEL NPC1 ENST00000269228 human ensembl 74_37 -1 known frame_shift_del c.2978 p.G993fs 0.004 tigrfam_NP_C_type pfam_Patched,pfam_MMPL_dom,pfscan_SSD,tigrfam_NP_C_type - no_errors NPC1 HGNC ENSG00000141458 123 0 0 128 20 13.5135 ENSG00000263606 0 genome.wustl.edu 37 18 2946534 2946534 + RNA DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 18 2946534 2946534 T - DEL ENSG00000263606 ENST00000581139 human ensembl 74_37 -1 known rna NULL NULL 0.978 - - - no_errors RP11-737O24.3 Clone_based_vega_gene ENSG00000263606 19 0 0 10 3 23.0769 CCDC178 0 genome.wustl.edu 37 18 30913143 30913143 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 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 25 0 0 29 7 19.4444 LMAN1 0 genome.wustl.edu 37 18 57013194 57013194 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 18 57013194 57013194 T - DEL LMAN1 ENST00000251047 human ensembl 74_37 -1 known frame_shift_del c.912 p.E305fs 0.898 superfamily_HMG_box_dom pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf,superfamily_HMG_box_dom - no_errors LMAN1 HGNC ENSG00000074695 63 0 0 59 17 22.3684 SERPINB10 0 genome.wustl.edu 37 18 61600331 61600331 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 18 61600331 61600331 T - DEL SERPINB10 ENST00000238508 human ensembl 74_37 +1 known frame_shift_del c.683 p.H230fs 0.001 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB10 HGNC ENSG00000242550 71 0 0 68 16 19.0476 CCDC102B 0 genome.wustl.edu 37 18 66504103 66504103 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 18 66504103 66504103 C - DEL CCDC102B ENST00000319445 human ensembl 74_37 +1 known frame_shift_del c.103 p.R37fs 0.000 NULL NULL - no_errors CCDC102B HGNC ENSG00000150636 83 0 0 91 11 10.7843 ZNF236 0 genome.wustl.edu 37 18 74593430 74593430 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 18 74593430 74593430 A - DEL ZNF236 ENST00000253159 human ensembl 74_37 +1 known frame_shift_del c.1373 p.M461fs 0.988 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 48 0 0 34 12 26.087 ZNF490 0 genome.wustl.edu 37 19 12692077 12692077 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 12692077 12692077 T - DEL ZNF490 ENST00000311437 human ensembl 74_37 -1 known frame_shift_del c.812 p.N271fs 0.858 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 ZNF490 HGNC ENSG00000188033 65 0 0 46 13 22.0339 NOTCH3 0 genome.wustl.edu 37 19 15273306 15273307 + Frame_Shift_Ins INS - - T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 15273306 15273307 - T INS NOTCH3 ENST00000263388 human ensembl 74_37 -1 known frame_shift_ins c.5883_5882 p.N1961fs 0.872:1.000 pirsf_Notch,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_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 74 0 0 45 6 11.7647 C19orf44 0 genome.wustl.edu 37 19 16620329 16620329 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 16620329 16620329 A - DEL C19orf44 ENST00000221671 human ensembl 74_37 +1 known frame_shift_del c.1169 p.T392fs 0.000 NULL NULL - no_errors C19orf44 HGNC ENSG00000105072 87 0 0 83 13 13.5417 CPAMD8 0 genome.wustl.edu 37 19 17088270 17088270 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 17088270 17088270 G - DEL CPAMD8 ENST00000443236 human ensembl 74_37 -1 known frame_shift_del c.1807 p.G604fs 0.565 pfam_A2M_N_2 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 64 0 0 78 7 8.23529 CRTC1 0 genome.wustl.edu 37 19 18887992 18887993 + Frame_Shift_Ins INS - - C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 18887992 18887993 - C INS CRTC1 ENST00000338797 human ensembl 74_37 +1 known frame_shift_ins c.1753_1754 p.S588fs 1.000:1.000 NULL NULL - no_errors CRTC1 HGNC ENSG00000105662 89 0 0 77 10 11.4943 SF3A2 0 genome.wustl.edu 37 19 2248525 2248525 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 2248525 2248525 C - DEL SF3A2 ENST00000221494 human ensembl 74_37 +1 known frame_shift_del c.1375 p.P460fs 0.170 NULL smart_Znf_U1,pfscan_Znf_C2H2_matrin - no_errors SF3A2 HGNC ENSG00000104897 21 0 0 18 3 14.2857 SLC7A10 0 genome.wustl.edu 37 19 33703794 33703794 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 33703794 33703794 G - DEL SLC7A10 ENST00000253188 human ensembl 74_37 -1 known frame_shift_del c.471 p.T158fs 0.068 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A10 HGNC ENSG00000130876 116 0 0 112 10 8.19672 LSM14A 0 genome.wustl.edu 37 19 34710341 34710341 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 34710341 34710341 G - DEL LSM14A ENST00000433627 human ensembl 74_37 +1 known frame_shift_del c.827 p.G277fs 1.000 NULL pfam_FDF_dom,superfamily_LSM_dom - no_errors LSM14A HGNC ENSG00000257103 126 0 0 157 20 11.2994 KIRREL2 0 genome.wustl.edu 37 19 36357214 36357214 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 36357214 36357214 C - DEL KIRREL2 ENST00000360202 human ensembl 74_37 +1 known frame_shift_del c.1947 p.C652fs 0.003 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL2 HGNC ENSG00000126259 136 0 0 86 54 38.5714 ZNF569 0 genome.wustl.edu 37 19 37903917 37903917 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 37903917 37903917 T - DEL ZNF569 ENST00000316950 human ensembl 74_37 -1 known frame_shift_del c.1643 p.K548fs 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF569 HGNC ENSG00000196437 131 0 0 112 32 22.2222 ZNF793 0 genome.wustl.edu 37 19 38028415 38028415 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 38028415 38028415 T - DEL ZNF793 ENST00000445217 human ensembl 74_37 +1 known frame_shift_del c.855 p.C288fs 0.222 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 ZNF793 HGNC ENSG00000188227 37 0 0 30 6 16.6667 HNRNPL 0 genome.wustl.edu 37 19 39330959 39330959 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 39330959 39330959 G - DEL HNRNPL ENST00000221419 human ensembl 74_37 -1 known frame_shift_del c.1010 p.P337fs 1.000 tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors HNRNPL HGNC ENSG00000104824 19 0 0 17 4 19.0476 ZNF546 0 genome.wustl.edu 37 19 40512086 40512087 + Frame_Shift_Ins INS - - A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 40512086 40512087 - A INS ZNF546 ENST00000347077 human ensembl 74_37 +1 known frame_shift_ins c.168_169 p.N56fs 0.515:0.522 superfamily_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF546 HGNC ENSG00000187187 67 0 0 68 7 9.33333 HNRNPUL1 0 genome.wustl.edu 37 19 41808818 41808818 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 41808818 41808818 G - DEL HNRNPUL1 ENST00000392006 human ensembl 74_37 +1 known frame_shift_del c.1936 p.G647fs 0.979 NULL pfam_SPRY_rcpt,pfam_SAP_dom,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom - no_errors HNRNPUL1 HGNC ENSG00000105323 74 0 0 81 11 11.9565 HNRNPUL1 0 genome.wustl.edu 37 19 41811722 41811722 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 41811722 41811722 C - DEL HNRNPUL1 ENST00000392006 human ensembl 74_37 +1 known frame_shift_del c.2404 p.T804fs 0.990 NULL pfam_SPRY_rcpt,pfam_SAP_dom,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom - no_errors HNRNPUL1 HGNC ENSG00000105323 99 0 0 99 11 10 FBXO46 0 genome.wustl.edu 37 19 46216387 46216388 + Frame_Shift_Ins INS - - C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 46216387 46216388 - C INS FBXO46 ENST00000317683 human ensembl 74_37 -1 known frame_shift_ins c.367_366 p.H122fs 0.991:0.889 NULL superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO46 HGNC ENSG00000177051 25 0 0 32 4 11.1111 ARHGAP35 0 genome.wustl.edu 37 19 47424841 47424841 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 47424841 47424841 C - DEL ARHGAP35 ENST00000404338 human ensembl 74_37 +1 known frame_shift_del c.2909 p.R972fs 1.000 NULL pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ENSG00000160007 57 0 0 46 8 14.8148 MAMSTR 0 genome.wustl.edu 37 19 49218106 49218106 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 49218106 49218106 G - DEL MAMSTR ENST00000318083 human ensembl 74_37 -1 known frame_shift_del c.485 p.P162fs 0.036 NULL pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom - no_errors MAMSTR HGNC ENSG00000176909 135 0 0 125 16 11.3475 TEAD2 0 genome.wustl.edu 37 19 49850473 49850473 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 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 276 0 0 239 41 14.6429 ENSG00000267865 0 genome.wustl.edu 37 19 56220431 56220431 + RNA DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 56220431 56220431 T - DEL ENSG00000267865 ENST00000596293 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2611O12.8 Clone_based_vega_gene ENSG00000267865 24 0 0 24 7 22.5806 LRRC8E 0 genome.wustl.edu 37 19 7964762 7964763 + Frame_Shift_Ins INS - - C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 7964762 7964763 - C INS LRRC8E ENST00000306708 human ensembl 74_37 +1 known frame_shift_ins c.1355_1356 p.G456fs 1.000:0.998 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8E HGNC ENSG00000171017 61 0 0 29 12 29.2683 ELANE 0 genome.wustl.edu 37 19 852391 852391 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 852391 852391 G - DEL ELANE ENST00000263621 human ensembl 74_37 +1 known frame_shift_del c.63 p.G23fs 0.076 superfamily_Trypsin-like_Pept_dom pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors ELANE HGNC ENSG00000197561 37 0 0 23 4 14.8148 OR7D2 0 genome.wustl.edu 37 19 9296724 9296725 + Frame_Shift_Ins INS - - A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 19 9296724 9296725 - A INS OR7D2 ENST00000344248 human ensembl 74_37 +1 known frame_shift_ins c.267_268 p.A90fs 0.000:0.000 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 OR7D2 HGNC ENSG00000188000 151 0 0 159 26 14.0541 IL1RL1 0 genome.wustl.edu 37 2 102959496 102959497 + Frame_Shift_Ins INS - - A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 102959496 102959497 - A INS IL1RL1 ENST00000233954 human ensembl 74_37 +1 known frame_shift_ins c.683_684 p.N230fs 0.863:0.110 smart_Ig_sub,prints_IL-1_rcpt_I/II-typ,pfscan_Ig-like_dom pfam_TIR_dom,pfam_Ig_I-set,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,prints_IL-1_rcpt_I/II-typ,pfscan_TIR_dom,pfscan_Ig-like_dom - no_errors IL1RL1 HGNC ENSG00000115602 126 0 0 138 12 8 RANBP2 0 genome.wustl.edu 37 2 109347310 109347310 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 109347310 109347310 A - DEL RANBP2 ENST00000283195 human ensembl 74_37 +1 known frame_shift_del c.221 p.N75fs 1.000 pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 216 0 0 220 33 13.0435 RGPD8 0 genome.wustl.edu 37 2 113181886 113181887 + Splice_Site INS - - A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 113181886 113181887 - A INS RGPD8 ENST00000302558 human ensembl 74_37 -1 known splice_site_ins c.73-3_73-2 e2-2 1.000:0.969 - - - no_errors RGPD8 HGNC ENSG00000169629 47 0 0 37 5 11.9048 ROCK2 0 genome.wustl.edu 37 2 11367448 11367448 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 11367448 11367448 C - DEL ROCK2 ENST00000315872 human ensembl 74_37 -1 known frame_shift_del c.800 p.G267fs 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_Rho-assoc_coiled-coil_kin,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Rho-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK2 HGNC ENSG00000134318 247 0 0 238 38 13.7681 MGAT5 0 genome.wustl.edu 37 2 135076289 135076289 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 135076289 135076289 T - DEL MGAT5 ENST00000281923 human ensembl 74_37 +1 known frame_shift_del c.552 p.F186fs 0.997 NULL NULL - no_errors MGAT5 HGNC ENSG00000152127 75 0 0 87 11 11.2245 LRP1B 0 genome.wustl.edu 37 2 141751637 141751638 + Frame_Shift_Del DEL AC AC - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 141751637 141751638 AC - DEL LRP1B ENST00000389484 human ensembl 74_37 -1 known frame_shift_del c.2571_2570 p.C857fs 1.000:1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 101 0 0 117 23 16.4286 ACVR2A 0 genome.wustl.edu 37 2 148657041 148657041 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 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 72 0 0 66 15 18.5185 RIF1 0 genome.wustl.edu 37 2 152321262 152321263 + Frame_Shift_Del DEL AA AA - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 152321262 152321263 AA - DEL RIF1 ENST00000243326 human ensembl 74_37 +1 known frame_shift_del c.5228_5229 p.K1744fs 1.000:0.998 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 32 0 0 33 7 17.5 KCNJ3 0 genome.wustl.edu 37 2 155711593 155711593 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 155711593 155711593 A - DEL KCNJ3 ENST00000295101 human ensembl 74_37 +1 known frame_shift_del c.1274 p.A427fs 1.000 pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.1 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.1,prints_K_chnl_inward-rec_Kir - no_errors KCNJ3 HGNC ENSG00000162989 64 0 0 66 10 13.1579 UBR3 0 genome.wustl.edu 37 2 170865361 170865361 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 170865361 170865361 A - DEL UBR3 ENST00000272793 human ensembl 74_37 +1 known frame_shift_del c.4278 p.N1428fs 0.708 NULL pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR3 HGNC ENSG00000144357 29 0 0 43 8 15.6863 DYNC1I2 0 genome.wustl.edu 37 2 172549339 172549339 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 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 21 0 0 17 3 15 SMC6 0 genome.wustl.edu 37 2 17898126 17898126 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 17898126 17898126 T - DEL SMC6 ENST00000381272 human ensembl 74_37 -1 known frame_shift_del c.1306 p.I436fs 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors SMC6 HGNC ENSG00000163029 19 0 0 23 7 23.3333 MYO1B 0 genome.wustl.edu 37 2 192228887 192228888 + Frame_Shift_Ins INS - - A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 192228887 192228888 - A INS MYO1B ENST00000304164 human ensembl 74_37 +1 known frame_shift_ins c.917_918 p.E308fs 1.000:0.996 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1B HGNC ENSG00000128641 145 0 0 131 19 12.6667 DNAH7 0 genome.wustl.edu 37 2 196912181 196912182 + Frame_Shift_Ins INS - - G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 196912181 196912182 - G INS DNAH7 ENST00000312428 human ensembl 74_37 -1 known frame_shift_ins c.293_292 p.H98fs 0.053:0.001 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 118 0 0 137 27 16.4634 SGOL2 0 genome.wustl.edu 37 2 201436992 201436992 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 201436992 201436992 A - DEL SGOL2 ENST00000357799 human ensembl 74_37 +1 known frame_shift_del c.1923 p.G644fs 0.002 NULL NULL - no_errors SGOL2 HGNC ENSG00000163535 102 0 0 102 24 19.0476 INO80D 0 genome.wustl.edu 37 2 206882406 206882406 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 206882406 206882406 T - DEL INO80D ENST00000403263 human ensembl 74_37 -1 known frame_shift_del c.1540 p.M514fs 1.000 NULL NULL - no_errors INO80D HGNC ENSG00000114933 9 0 0 6 3 33.3333 ZDBF2 0 genome.wustl.edu 37 2 207174428 207174428 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 207174428 207174428 A - DEL ZDBF2 ENST00000374423 human ensembl 74_37 +1 known frame_shift_del c.5176 p.K1728fs 0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 26 0 0 15 5 25 ZDBF2 0 genome.wustl.edu 37 2 207174869 207174869 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 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 17 0 0 34 7 17.0732 ACSL3 0 genome.wustl.edu 37 2 223773616 223773616 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 223773616 223773616 T - DEL ACSL3 ENST00000357430 human ensembl 74_37 +1 known frame_shift_del c.126 p.F44fs 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSL3 HGNC ENSG00000123983 79 0 0 93 17 15.4545 IRS1 0 genome.wustl.edu 37 2 227661395 227661396 + In_Frame_Ins INS - - TGC TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 227661395 227661396 - TGC INS IRS1 ENST00000305123 human ensembl 74_37 -1 known in_frame_ins c.2060_2059 p.687in_frame_insS 0.077:0.115 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 76 0 0 71 9 11.25 DNER 0 genome.wustl.edu 37 2 230456532 230456533 + In_Frame_Ins INS - - GCT TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 230456532 230456533 - GCT INS DNER ENST00000341772 human ensembl 74_37 -1 known in_frame_ins c.349_348 p.116in_frame_insS 0.999:0.003 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DNER HGNC ENSG00000187957 39 0 0 34 5 12.8205 ESPNL 0 genome.wustl.edu 37 2 239040408 239040408 + RNA DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 239040408 239040408 G - DEL ESPNL ENST00000477241 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors ESPNL HGNC ENSG00000144488 96 0 0 103 12 10.4348 ITSN2 0 genome.wustl.edu 37 2 24484521 24484521 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 24484521 24484521 T - DEL ITSN2 ENST00000355123 human ensembl 74_37 -1 known frame_shift_del c.2446 p.M816fs 0.659 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN2 HGNC ENSG00000198399 42 0 0 45 14 23.7288 GTF3C2 0 genome.wustl.edu 37 2 27552352 27552352 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 27552352 27552352 G - DEL GTF3C2 ENST00000264720 human ensembl 74_37 -1 known frame_shift_del c.1771 p.L591fs 0.775 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GTF3C2 HGNC ENSG00000115207 121 0 0 134 17 11.2583 BIRC6 0 genome.wustl.edu 37 2 32820100 32820101 + Frame_Shift_Ins INS - - A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 32820100 32820101 - A INS BIRC6 ENST00000421745 human ensembl 74_37 +1 known frame_shift_ins c.13503_13502 p.L4504fs 1.000:1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 15 0 0 28 6 17.6471 CEBPZ 0 genome.wustl.edu 37 2 37454908 37454908 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 37454908 37454908 T - DEL CEBPZ ENST00000234170 human ensembl 74_37 -1 known frame_shift_del c.1428 p.D477fs 1.000 superfamily_ARM-type_fold pfam_CCAAT-binding_factor,superfamily_ARM-type_fold - no_errors CEBPZ HGNC ENSG00000115816 36 0 0 30 6 16.6667 MTIF2 0 genome.wustl.edu 37 2 55489457 55489457 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 55489457 55489457 T - DEL MTIF2 ENST00000263629 human ensembl 74_37 -1 known frame_shift_del c.326 p.N109fs 0.998 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 123 1 0.806452 119 24 16.7832 UGP2 0 genome.wustl.edu 37 2 64069278 64069280 + RNA DEL AAA AAA - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 64069278 64069280 AAA - DEL UGP2 ENST00000484056 human ensembl 74_37 +1 known rna NULL NULL 0.271:0.359:0.509 - - - no_errors UGP2 HGNC ENSG00000169764 39 0 0 46 12 20.6897 GKN1 0 genome.wustl.edu 37 2 69207871 69207872 + Frame_Shift_Ins INS - - T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 69207871 69207872 - T INS GKN1 ENST00000377938 human ensembl 74_37 +1 known frame_shift_ins c.516_517 p.Y174fs 0.106:0.004 NULL pfam_BRICHOS_dom,pfscan_BRICHOS_dom - no_errors GKN1 HGNC ENSG00000169605 35 0 0 42 5 10.6383 TPRKB 0 genome.wustl.edu 37 2 73957881 73957881 + RNA DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 73957881 73957881 A - DEL TPRKB ENST00000485758 human ensembl 74_37 -1 putative rna NULL NULL 0.004 - - - no_errors TPRKB HGNC ENSG00000144034 17 0 0 14 5 26.3158 WBP1 0 genome.wustl.edu 37 2 74687542 74687543 + Frame_Shift_Ins INS - - C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 74687542 74687543 - C INS WBP1 ENST00000233615 human ensembl 74_37 +1 known frame_shift_ins c.544_545 p.H185fs 0.963:0.962 NULL pfam_Uncharacterised_WW-bd - no_errors WBP1 HGNC ENSG00000239779 117 1 0.847458 113 12 9.6 M1AP 0 genome.wustl.edu 37 2 74789519 74789520 + Frame_Shift_Ins INS - - C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 74789519 74789520 - C INS M1AP ENST00000290536 human ensembl 74_37 -1 known frame_shift_ins c.1106_1105 p.E369fs 0.837:0.908 NULL NULL - no_errors M1AP HGNC ENSG00000159374 110 0 0 79 17 17.7083 EVA1A 0 genome.wustl.edu 37 2 75720591 75720592 + Frame_Shift_Del DEL CT CT - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 75720591 75720592 CT - DEL EVA1A ENST00000233712 human ensembl 74_37 -1 known frame_shift_del c.230_229 p.S77fs 1.000:0.998 NULL NULL - no_errors EVA1A HGNC ENSG00000115363 93 0 0 62 8 11.4286 MBOAT2 0 genome.wustl.edu 37 2 9098635 9098636 + Frame_Shift_Ins INS - - A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 9098635 9098636 - A INS MBOAT2 ENST00000305997 human ensembl 74_37 -1 known frame_shift_ins c.212_211 p.C71fs 1.000:1.000 NULL pfam_MBOAT_fam,superfamily_MFS_dom_general_subst_transpt - no_errors MBOAT2 HGNC ENSG00000143797 61 0 0 56 12 17.6471 ADAM17 0 genome.wustl.edu 37 2 9642351 9642353 + In_Frame_Del DEL CTT CTT - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 9642351 9642353 CTT - DEL ADAM17 ENST00000310823 human ensembl 74_37 -1 known in_frame_del c.1599_1597 p.K533in_frame_del 1.000:1.000:1.000 pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM17 HGNC ENSG00000151694 239 0 0 265 35 11.6667 ADRA2B 0 genome.wustl.edu 37 2 96781253 96781253 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 2 96781253 96781253 C - DEL ADRA2B ENST00000409345 human ensembl 74_37 -1 known frame_shift_del c.636 p.P213fs 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2B_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA2B HGNC ENSG00000222040 31 0 0 18 2 10 PCSK2 0 genome.wustl.edu 37 20 17208071 17208071 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 17208071 17208071 G - DEL PCSK2 ENST00000262545 human ensembl 74_37 +1 known frame_shift_del c.121 p.G42fs 1.000 superfamily_Prot_inh_propept pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK2 HGNC ENSG00000125851 55 0 0 56 6 9.67742 CD93 0 genome.wustl.edu 37 20 23066469 23066469 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 23066469 23066469 C - DEL CD93 ENST00000246006 human ensembl 74_37 -1 known frame_shift_del c.361 p.E121fs 0.689 pirsf_CD93/CD141,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_C-type_lectin - no_errors CD93 HGNC ENSG00000125810 17 0 0 12 2 14.2857 TBC1D20 0 genome.wustl.edu 37 20 422178 422178 + RNA DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 422178 422178 G - DEL TBC1D20 ENST00000461188 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors TBC1D20 HGNC ENSG00000125875 22 0 0 21 8 27.5862 SLPI 0 genome.wustl.edu 37 20 43881731 43881731 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 43881731 43881731 G - DEL SLPI ENST00000338380 human ensembl 74_37 -1 known frame_shift_del c.306 p.N103fs 0.000 pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,prints_WAP-type_4-diS_core - no_errors SLPI HGNC ENSG00000124107 119 0 0 101 13 11.4035 SULF2 0 genome.wustl.edu 37 20 46386103 46386103 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 46386103 46386103 C - DEL SULF2 ENST00000359930 human ensembl 74_37 -1 known frame_shift_del c.5 p.G2fs 0.250 pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF2 HGNC ENSG00000196562 10 0 0 5 3 37.5 SYCP2 0 genome.wustl.edu 37 20 58452519 58452519 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 20 58452519 58452519 T - DEL SYCP2 ENST00000357552 human ensembl 74_37 -1 known frame_shift_del c.3071 p.N1024fs 1.000 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 32 0 0 29 7 19.4444 ITSN1 0 genome.wustl.edu 37 21 35094910 35094910 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 21 35094910 35094910 T - DEL ITSN1 ENST00000381285 human ensembl 74_37 +1 known frame_shift_del c.139 p.Q50fs 1.000 smart_EPS15_homology,pfscan_EPS15_homology pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,superfamily_P-loop_NTPase,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN1 HGNC ENSG00000205726 23 0 0 23 2 8 DOPEY2 0 genome.wustl.edu 37 21 37605286 37605286 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 21 37605286 37605286 T - DEL DOPEY2 ENST00000399151 human ensembl 74_37 +1 known frame_shift_del c.2535 p.F847fs 0.000 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 81 0 0 90 6 6.25 ZBTB21 0 genome.wustl.edu 37 21 43411084 43411084 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 21 43411084 43411084 T - DEL ZBTB21 ENST00000310826 human ensembl 74_37 -1 known frame_shift_del c.3121 p.R1041fs 0.997 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB21 HGNC ENSG00000173276 105 0 0 99 25 20.1613 ZBTB21 0 genome.wustl.edu 37 21 43413187 43413187 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 21 43413187 43413187 G - DEL ZBTB21 ENST00000310826 human ensembl 74_37 -1 known frame_shift_del c.1018 p.L340fs 0.999 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB21 HGNC ENSG00000173276 88 0 0 97 12 11.0092 LSS 0 genome.wustl.edu 37 21 47626622 47626623 + Frame_Shift_Ins INS - - C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 21 47626622 47626623 - C INS LSS ENST00000356396 human ensembl 74_37 -1 known frame_shift_ins c.1528_1527 p.H509fs 0.000:0.000 superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase - no_errors LSS HGNC ENSG00000160285 108 0 0 94 10 9.61538 MCM3AP-AS1 0 genome.wustl.edu 37 21 47662900 47662901 + RNA DEL AA AA - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 21 47662900 47662901 AA - DEL MCM3AP-AS1 ENST00000421927 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors MCM3AP-AS1 HGNC ENSG00000215424 8 0 0 17 3 15 MED15 0 genome.wustl.edu 37 22 20936976 20936976 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 22 20936976 20936976 C - DEL MED15 ENST00000263205 human ensembl 74_37 +1 known frame_shift_del c.1351 p.Q453fs 1.000 pfam_Mediator_Med15_met pfam_Mediator_Med15_met - no_errors MED15 HGNC ENSG00000099917 32 0 0 40 3 6.97674 SLC7A4 0 genome.wustl.edu 37 22 21384035 21384035 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 22 21384035 21384035 C - DEL SLC7A4 ENST00000382932 human ensembl 74_37 -1 known frame_shift_del c.1588 p.A530fs 1.000 pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A4 HGNC ENSG00000099960 90 0 0 80 10 11.1111 SGSM1 0 genome.wustl.edu 37 22 25294149 25294150 + Frame_Shift_Ins INS - - C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 22 25294149 25294150 - C INS SGSM1 ENST00000400359 human ensembl 74_37 +1 known frame_shift_ins c.2398_2399 p.T802fs 0.000:0.000 superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC ENSG00000167037 74 0 0 66 9 12 TOM1 0 genome.wustl.edu 37 22 35743121 35743121 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 22 35743121 35743121 G - DEL TOM1 ENST00000411850 human ensembl 74_37 +1 known frame_shift_del c.1401 p.P470fs 0.004 pirsf_TOM1 pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1 HGNC ENSG00000100284 81 0 0 72 9 11.1111 TMPRSS6 0 genome.wustl.edu 37 22 37466579 37466579 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 22 37466579 37466579 C - DEL TMPRSS6 ENST00000381792 human ensembl 74_37 -1 known frame_shift_del c.1786 p.A596fs 0.998 pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors TMPRSS6 HGNC ENSG00000187045 143 0 0 145 8 5.22876 CARD10 0 genome.wustl.edu 37 22 37900249 37900249 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 22 37900249 37900249 G - DEL CARD10 ENST00000251973 human ensembl 74_37 -1 known frame_shift_del c.1578 p.S527fs 0.990 NULL pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors CARD10 HGNC ENSG00000100065 20 0 0 14 4 22.2222 ATF4 0 genome.wustl.edu 37 22 39917950 39917951 + Frame_Shift_Ins INS - - C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 22 39917950 39917951 - C INS ATF4 ENST00000337304 human ensembl 74_37 +1 known frame_shift_ins c.399_400 p.Q135fs 0.452:0.485 NULL pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors ATF4 HGNC ENSG00000128272 365 0 0 331 32 8.81543 TRAT1 0 genome.wustl.edu 37 3 108541762 108541763 + RNA INS - - A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 108541762 108541763 - A INS TRAT1 ENST00000493604 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors TRAT1 HGNC ENSG00000163519 104 0 0 119 29 19.5946 MAATS1 0 genome.wustl.edu 37 3 119463003 119463003 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 119463003 119463003 A - DEL MAATS1 ENST00000273390 human ensembl 74_37 +1 known frame_shift_del c.1862 p.K622fs 1.000 NULL superfamily_S-AdoMet_deCO2ase_core - no_errors MAATS1 HGNC ENSG00000183833 39 0 0 37 7 15.9091 CASR 0 genome.wustl.edu 37 3 121973139 121973139 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 121973139 121973139 G - DEL CASR ENST00000498619 human ensembl 74_37 +1 known frame_shift_del c.103 p.L37fs 1.000 superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors CASR HGNC ENSG00000036828 64 0 0 81 9 10 PODXL2 0 genome.wustl.edu 37 3 127379697 127379697 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 127379697 127379697 G - DEL PODXL2 ENST00000342480 human ensembl 74_37 +1 known frame_shift_del c.826 p.V277fs 0.000 NULL pfam_CD34/Podocalyxin - no_errors PODXL2 HGNC ENSG00000114631 29 0 0 38 5 11.6279 CAND2 0 genome.wustl.edu 37 3 12875432 12875434 + In_Frame_Del DEL AGA AGA - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 12875432 12875434 AGA - DEL CAND2 ENST00000456430 human ensembl 74_37 +1 known in_frame_del c.3662_3664 p.K1222in_frame_del 1.000:1.000:1.000 NULL pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND2 HGNC ENSG00000144712 134 0 0 134 14 9.45946 CNTN6 0 genome.wustl.edu 37 3 1371500 1371501 + Frame_Shift_Ins INS - - A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 1371500 1371501 - A INS CNTN6 ENST00000350110 human ensembl 74_37 +1 known frame_shift_ins c.1245_1246 p.S418fs 0.955:0.992 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN6 HGNC ENSG00000134115 65 0 0 54 7 11.4754 TRIM42 0 genome.wustl.edu 37 3 140407048 140407048 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 140407048 140407048 C - DEL TRIM42 ENST00000286349 human ensembl 74_37 +1 known frame_shift_del c.1524 p.V510fs 0.100 NULL pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM42 HGNC ENSG00000155890 103 0 0 62 7 10.1449 XRN1 0 genome.wustl.edu 37 3 142142409 142142409 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 142142409 142142409 T - DEL XRN1 ENST00000264951 human ensembl 74_37 -1 known frame_shift_del c.703 p.T235fs 0.869 pirsf_5_3_exoribonuclease_1 pfam_Put_53exo,pirsf_5_3_exoribonuclease_1 - no_errors XRN1 HGNC ENSG00000114127 55 0 0 58 6 9.375 P2RY13 0 genome.wustl.edu 37 3 151046142 151046142 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 151046142 151046142 T - DEL P2RY13 ENST00000325602 human ensembl 74_37 -1 known frame_shift_del c.702 p.V235fs 0.880 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_P2Y13_rcpt,prints_P2Y14_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_P2Y13_rcpt,prints_GPCR_Rhodpsn,prints_P2Y14_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors P2RY13 HGNC ENSG00000181631 28 0 0 28 5 15.1515 IFT80 0 genome.wustl.edu 37 3 160156368 160156368 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 160156368 160156368 T - DEL IFT80 ENST00000483754 human ensembl 74_37 -1 known frame_shift_del c.604 p.S202fs 0.000 NULL pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RP11-432B6.3 Clone_based_vega_gene ENSG00000248710 44 0 0 50 10 16.6667 SKIL 0 genome.wustl.edu 37 3 170102466 170102467 + Frame_Shift_Ins INS - - A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 170102466 170102467 - A INS SKIL ENST00000259119 human ensembl 74_37 +1 known frame_shift_ins c.1342_1343 p.T450fs 0.731:0.730 NULL pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put - no_errors SKIL HGNC ENSG00000136603 129 0 0 128 10 7.24638 ACTL6A 0 genome.wustl.edu 37 3 179288016 179288016 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 179288016 179288016 A - DEL ACTL6A ENST00000429709 human ensembl 74_37 +1 known frame_shift_del c.264 p.N90fs 0.169 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL6A HGNC ENSG00000136518 108 0 0 111 14 11.2 MAP3K13 0 genome.wustl.edu 37 3 185165603 185165604 + Frame_Shift_Ins INS - - A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 185165603 185165604 - A INS MAP3K13 ENST00000265026 human ensembl 74_37 +1 known frame_shift_ins c.878_879 p.I295fs 1.000:0.905 pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K13 HGNC ENSG00000073803 55 0 0 57 7 10.9375 LMLN 0 genome.wustl.edu 37 3 197751531 197751532 + Frame_Shift_Ins INS - - T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 197751531 197751532 - T INS LMLN ENST00000330198 human ensembl 74_37 +1 known frame_shift_ins c.1528_1529 p.K512fs 0.011:0.016 pfam_Peptidase_M8 pfam_Peptidase_M8 - no_errors LMLN HGNC ENSG00000185621 48 0 0 45 6 11.7647 GOLGA4 0 genome.wustl.edu 37 3 37367332 37367333 + Frame_Shift_Ins INS - - A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 37367332 37367333 - A INS GOLGA4 ENST00000361924 human ensembl 74_37 +1 known frame_shift_ins c.3955_3956 p.E1321fs 0.848:0.974 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC ENSG00000144674 26 0 0 28 3 9.67742 OXSR1 0 genome.wustl.edu 37 3 38287672 38287673 + Frame_Shift_Del DEL TC TC - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 38287672 38287673 TC - DEL OXSR1 ENST00000311806 human ensembl 74_37 +1 known frame_shift_del c.1217_1218 p.L408fs 0.996:0.965 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors OXSR1 HGNC ENSG00000172939 84 0 0 52 7 11.8644 NKTR 0 genome.wustl.edu 37 3 42679036 42679036 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 42679036 42679036 C - DEL NKTR ENST00000232978 human ensembl 74_37 +1 known frame_shift_del c.1840 p.P616fs 1.000 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors NKTR HGNC ENSG00000114857 179 0 0 181 26 12.5604 ENSG00000271941 0 genome.wustl.edu 37 3 43388801 43388801 + RNA DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 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 179 0 0 132 27 16.9811 ZNF502 0 genome.wustl.edu 37 3 44763316 44763317 + Frame_Shift_Ins INS - - A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 44763316 44763317 - A INS ZNF502 ENST00000296091 human ensembl 74_37 +1 known frame_shift_ins c.1007_1008 p.N337fs 0.045:0.035 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF502 HGNC ENSG00000196653 63 0 0 53 5 8.62069 DOCK3 0 genome.wustl.edu 37 3 51417604 51417604 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 51417604 51417604 C - DEL DOCK3 ENST00000266037 human ensembl 74_37 +1 known frame_shift_del c.5549 p.P1852fs 0.115 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 72 0 0 41 16 28.0702 SFMBT1 0 genome.wustl.edu 37 3 52965033 52965033 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 52965033 52965033 T - DEL SFMBT1 ENST00000358080 human ensembl 74_37 -1 known frame_shift_del c.719 p.N240fs 0.922 NULL pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT1 HGNC ENSG00000163935 64 0 0 62 9 12.6761 FEZF2 0 genome.wustl.edu 37 3 62356932 62356932 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 62356932 62356932 G - DEL FEZF2 ENST00000283268 human ensembl 74_37 -1 known frame_shift_del c.1080 p.F361fs 0.999 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FEZF2 HGNC ENSG00000153266 72 0 0 77 18 18.9474 ROBO2 0 genome.wustl.edu 37 3 77657037 77657038 + Frame_Shift_Ins INS - - C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 77657037 77657038 - C INS ROBO2 ENST00000461745 human ensembl 74_37 +1 known frame_shift_ins c.3225_3226 p.V1078fs 1.000:1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 66 0 0 57 11 16.1765 HTR1F 0 genome.wustl.edu 37 3 88040823 88040823 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 3 88040823 88040823 T - DEL HTR1F ENST00000319595 human ensembl 74_37 +1 known frame_shift_del c.924 p.F310fs 0.753 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_5HT_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_5HT1F_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors HTR1F HGNC ENSG00000179097 22 0 0 26 5 16.129 H2AFZ 0 genome.wustl.edu 37 4 100869648 100869651 + Frame_Shift_Del DEL CAAT CAAT - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 CAAT CAAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 100869648 100869651 CAAT - DEL H2AFZ ENST00000296417 human ensembl 74_37 -1 known frame_shift_del c.358_355 p.I119fs 1.000:0.999:1.000:1.000 smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors H2AFZ HGNC ENSG00000164032 102 0 0 96 10 9.43396 ANK2 0 genome.wustl.edu 37 4 113970953 113970953 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 113970953 113970953 A - DEL ANK2 ENST00000357077 human ensembl 74_37 +1 known frame_shift_del c.69 p.R25fs 0.995 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 68 0 0 53 7 11.6667 TRAM1L1 0 genome.wustl.edu 37 4 118006513 118006514 + Frame_Shift_Ins INS - - G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 118006513 118006514 - G INS TRAM1L1 ENST00000310754 human ensembl 74_37 -1 known frame_shift_ins c.37_36 p.V12fs 0.973:0.971 pirsf_Translocation_assoc_membrane pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom - no_errors TRAM1L1 HGNC ENSG00000174599 102 0 0 76 8 9.52381 KIAA1109 0 genome.wustl.edu 37 4 123165028 123165029 + Frame_Shift_Ins INS - - A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 123165028 123165029 - A INS KIAA1109 ENST00000264501 human ensembl 74_37 +1 known frame_shift_ins c.4762_4763 p.L1591fs 1.000:0.999 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 38 0 0 22 5 18.5185 LARP1B 0 genome.wustl.edu 37 4 129121762 129121762 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 129121762 129121762 A - DEL LARP1B ENST00000326639 human ensembl 74_37 +1 known frame_shift_del c.2251 p.M753fs 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 23 0 0 31 13 29.5455 SCLT1 0 genome.wustl.edu 37 4 129864163 129864163 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 129864163 129864163 T - DEL SCLT1 ENST00000281142 human ensembl 74_37 -1 known frame_shift_del c.1620 p.A541fs 1.000 NULL NULL - no_errors SCLT1 HGNC ENSG00000151466 73 0 0 83 18 17.8218 SCLT1 0 genome.wustl.edu 37 4 129864269 129864270 + Frame_Shift_Ins INS - - TC TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 129864269 129864270 - TC INS SCLT1 ENST00000281142 human ensembl 74_37 -1 known frame_shift_ins c.1514_1513 p.N505fs 1.000:1.000 NULL NULL - no_errors SCLT1 HGNC ENSG00000151466 40 0 0 31 10 24.3902 PCDH10 0 genome.wustl.edu 37 4 134071648 134071649 + Frame_Shift_Ins INS - - C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 134071648 134071649 - C INS PCDH10 ENST00000264360 human ensembl 74_37 +1 known frame_shift_ins c.353_354 p.S121fs 1.000:1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 126 0 0 117 13 10 ZFYVE28 0 genome.wustl.edu 37 4 2307120 2307120 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 2307120 2307120 G - DEL ZFYVE28 ENST00000290974 human ensembl 74_37 -1 known frame_shift_del c.947 p.P316fs 0.121 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE28 HGNC ENSG00000159733 72 0 0 63 8 11.2676 ZFYVE28 0 genome.wustl.edu 37 4 2339186 2339186 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 2339186 2339186 C - DEL ZFYVE28 ENST00000290974 human ensembl 74_37 -1 known frame_shift_del c.559 p.E187fs 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE28 HGNC ENSG00000159733 34 0 0 35 4 10.2564 GRK4 0 genome.wustl.edu 37 4 3015470 3015471 + Frame_Shift_Del DEL AA AA - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 3015470 3015471 AA - DEL GRK4 ENST00000398052 human ensembl 74_37 +1 known frame_shift_del c.656_657 p.R222fs 1.000:0.997 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK4 HGNC ENSG00000125388 79 0 0 88 9 9.27835 KLF3 0 genome.wustl.edu 37 4 38691475 38691476 + Frame_Shift_Ins INS - - C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 38691475 38691476 - C INS KLF3 ENST00000261438 human ensembl 74_37 +1 known frame_shift_ins c.670_671 p.Q227fs 1.000:1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF3 HGNC ENSG00000109787 257 0 0 230 28 10.8527 TLR10 0 genome.wustl.edu 37 4 38774956 38774956 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 38774956 38774956 T - DEL TLR10 ENST00000308973 human ensembl 74_37 -1 known frame_shift_del c.2256 p.A753fs 0.718 pirsf_Toll-like_receptor,pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR10 HGNC ENSG00000174123 61 0 0 49 13 20.9677 PDS5A 0 genome.wustl.edu 37 4 39918804 39918804 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 39918804 39918804 A - DEL PDS5A ENST00000303538 human ensembl 74_37 -1 known frame_shift_del c.740 p.F247fs 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5A HGNC ENSG00000121892 39 0 0 40 6 13.0435 EPHA5 0 genome.wustl.edu 37 4 66356423 66356423 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 66356423 66356423 G - DEL EPHA5 ENST00000273854 human ensembl 74_37 -1 known frame_shift_del c.1074 p.S359fs 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 42 0 0 51 7 12.069 AFAP1 0 genome.wustl.edu 37 4 7776557 7776559 + In_Frame_Del DEL CTC CTC - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 7776557 7776559 CTC - DEL AFAP1 ENST00000420658 human ensembl 74_37 -1 known in_frame_del c.1971_1969 p.E657in_frame_del 1.000:1.000:1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1 HGNC ENSG00000196526 70 0 0 73 15 17.0455 SOWAHB 0 genome.wustl.edu 37 4 77817704 77817704 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 77817704 77817704 C - DEL SOWAHB ENST00000334306 human ensembl 74_37 -1 known frame_shift_del c.1299 p.K434fs 0.001 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SOWAHB HGNC ENSG00000186212 81 0 0 74 21 22.1053 SEC31A 0 genome.wustl.edu 37 4 83745800 83745800 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 83745800 83745800 T - DEL SEC31A ENST00000432794 human ensembl 74_37 -1 known frame_shift_del c.3358 p.I1120fs 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31A HGNC ENSG00000138674 37 0 0 31 5 13.8889 HELQ 0 genome.wustl.edu 37 4 84368060 84368060 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 84368060 84368060 T - DEL HELQ ENST00000295488 human ensembl 74_37 -1 known frame_shift_del c.1320 p.G441fs 0.995 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,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELQ HGNC ENSG00000163312 209 0 0 178 27 13.1707 WDFY3 0 genome.wustl.edu 37 4 85758174 85758175 + Frame_Shift_Ins INS - - A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 85758174 85758175 - A INS WDFY3 ENST00000295888 human ensembl 74_37 -1 known frame_shift_ins c.484_483 p.D161fs 1.000:1.000 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 59 0 0 75 13 14.7727 CPZ 0 genome.wustl.edu 37 4 8616156 8616156 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 4 8616156 8616156 C - DEL CPZ ENST00000360986 human ensembl 74_37 +1 known frame_shift_del c.1434 p.E481fs 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Frizzled_dom,superfamily_Frizzled_dom,superfamily_CarboxyPept-like_regulatory,smart_Frizzled_dom,smart_Peptidase_M14,prints_Peptidase_M14,pfscan_Frizzled_dom - no_errors CPZ HGNC ENSG00000109625 108 0 0 82 8 8.88889 FER 0 genome.wustl.edu 37 5 108290522 108290522 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 108290522 108290522 A - DEL FER ENST00000281092 human ensembl 74_37 +1 known frame_shift_del c.1422 p.K476fs 0.994 pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_SH2,smart_SH2,pfscan_SH2 pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_FCH_dom,superfamily_Kinase-like_dom,smart_FCH_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH_dom,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors FER HGNC ENSG00000151422 68 0 0 80 12 13.0435 CSNK1G3 0 genome.wustl.edu 37 5 122881495 122881495 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 122881495 122881495 A - DEL CSNK1G3 ENST00000360683 human ensembl 74_37 +1 known frame_shift_del c.138 p.I49fs 0.861 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_Casein_kinase-1_gamma_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK1G3 HGNC ENSG00000151292 116 0 0 118 26 18.0556 TCF7 0 genome.wustl.edu 37 5 133473764 133473765 + Frame_Shift_Ins INS - - C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 133473764 133473765 - C INS TCF7 ENST00000321584 human ensembl 74_37 +1 known frame_shift_ins c.456_457 p.H154fs 1.000:1.000 pfam_CTNNB1-bd_N pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TCF7 HGNC ENSG00000081059 228 0 0 172 32 15.6863 NME5 0 genome.wustl.edu 37 5 137451362 137451362 + RNA DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 137451362 137451362 T - DEL NME5 ENST00000514481 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors NME5 HGNC ENSG00000112981 25 0 0 33 16 32.6531 PSD2 0 genome.wustl.edu 37 5 139193288 139193288 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 139193288 139193288 G - DEL PSD2 ENST00000274710 human ensembl 74_37 +1 known frame_shift_del c.766 p.D258fs 0.076 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD2 HGNC ENSG00000146005 23 0 0 33 4 10.8108 PCDH12 0 genome.wustl.edu 37 5 141336951 141336951 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 141336951 141336951 G - DEL PCDH12 ENST00000231484 human ensembl 74_37 -1 known frame_shift_del c.466 p.L156fs 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH12 HGNC ENSG00000113555 128 0 0 137 13 8.66667 TRIO 0 genome.wustl.edu 37 5 14477004 14477004 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 14477004 14477004 T - DEL TRIO ENST00000344204 human ensembl 74_37 +1 known frame_shift_del c.6085 p.L2031fs 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_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 17 0 0 29 12 29.2683 MYO10 0 genome.wustl.edu 37 5 16694605 16694606 + Frame_Shift_Ins INS - - C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 16694605 16694606 - C INS MYO10 ENST00000513610 human ensembl 74_37 -1 known frame_shift_ins c.3675_3674 p.S1226fs 1.000:1.000 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 82 0 0 85 21 19.8113 FTH1P10 0 genome.wustl.edu 37 5 17354205 17354205 + RNA DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 17354205 17354205 T - DEL FTH1P10 ENST00000401830 human ensembl 74_37 -1 known rna NULL NULL 0.989 - - - no_errors FTH1P10 HGNC ENSG00000223361 195 0 0 216 35 13.9442 CPLX2 0 genome.wustl.edu 37 5 175305939 175305939 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 175305939 175305939 G - DEL CPLX2 ENST00000359546 human ensembl 74_37 +1 known frame_shift_del c.60 p.G22fs 1.000 pfam_Synaphin pfam_Synaphin - no_errors CPLX2 HGNC ENSG00000145920 30 0 0 31 5 13.8889 ZNF346 0 genome.wustl.edu 37 5 176471424 176471425 + Frame_Shift_Ins INS - - C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 176471424 176471425 - C INS ZNF346 ENST00000261948 human ensembl 74_37 +1 known frame_shift_ins c.482_483 p.I163fs 1.000:1.000 smart_Znf_U1,smart_Znf_C2H2-like smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF346 HGNC ENSG00000113761 166 0 0 133 39 22.6744 FGFR4 0 genome.wustl.edu 37 5 176520278 176520278 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 176520278 176520278 C - DEL FGFR4 ENST00000292408 human ensembl 74_37 +1 known frame_shift_del c.1197 p.R401fs 0.008 pirsf_FGF_rcpt_fam pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR4 HGNC ENSG00000160867 53 0 0 43 15 25.8621 TRIM41 0 genome.wustl.edu 37 5 180661667 180661668 + Frame_Shift_Del DEL AG AG - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 180661667 180661668 AG - DEL TRIM41 ENST00000315073 human ensembl 74_37 +1 known frame_shift_del c.1785_1786 p.E596fs 0.006:0.593 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 64 0 0 70 9 11.3924 ADAMTS12 0 genome.wustl.edu 37 5 33546197 33546197 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 33546197 33546197 C - DEL ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known frame_shift_del c.4413 p.C1472fs 0.187 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,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 105 0 0 104 15 12.605 C5orf42 0 genome.wustl.edu 37 5 37167306 37167306 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 37167306 37167306 T - DEL C5orf42 ENST00000425232 human ensembl 74_37 -1 known frame_shift_del c.7243 p.T2415fs 0.346 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 33 0 0 42 7 14.2857 DAB2 0 genome.wustl.edu 37 5 39394336 39394337 + Frame_Shift_Ins INS - - T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 39394336 39394337 - T INS DAB2 ENST00000320816 human ensembl 74_37 -1 known frame_shift_ins c.87_86 p.K30fs 1.000:1.000 NULL pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors DAB2 HGNC ENSG00000153071 40 0 0 71 16 18.3908 C6 0 genome.wustl.edu 37 5 41181559 41181560 + Frame_Shift_Ins INS - - C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 41181559 41181560 - C INS C6 ENST00000263413 human ensembl 74_37 -1 known frame_shift_ins c.829_828 p.S276fs 0.000:0.000 NULL pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal_dom,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt - no_errors C6 HGNC ENSG00000039537 62 0 0 78 11 12.3596 MOCS2 0 genome.wustl.edu 37 5 52402940 52402940 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 52402940 52402940 G - DEL MOCS2 ENST00000396954 human ensembl 74_37 -1 known frame_shift_del c.65 p.P22fs 1.000 NULL pfam_Mopterin_biosynth_MoaE,superfamily_Mopterin_biosynth_MoaE - no_errors MOCS2 HGNC ENSG00000164172 103 0 0 113 19 14.3939 BDP1 0 genome.wustl.edu 37 5 70766233 70766233 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 70766233 70766233 T - DEL BDP1 ENST00000358731 human ensembl 74_37 +1 known frame_shift_del c.931 p.L313fs 1.000 superfamily_Homeodomain-like,smart_SANT/Myb superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 43 0 0 45 11 19.6429 CMYA5 0 genome.wustl.edu 37 5 79031458 79031458 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 5 79031458 79031458 A - DEL CMYA5 ENST00000446378 human ensembl 74_37 +1 known frame_shift_del c.6870 p.E2293fs 0.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 67 0 0 67 9 11.8421 SOBP 0 genome.wustl.edu 37 6 107824871 107824871 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 107824871 107824871 A - DEL SOBP ENST00000317357 human ensembl 74_37 +1 known frame_shift_del c.107 p.N37fs 1.000 NULL NULL - no_errors SOBP HGNC ENSG00000112320 97 0 0 80 13 13.9785 ENSG00000271730 0 genome.wustl.edu 37 6 109319968 109319969 + RNA DEL AA AA - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 109319968 109319969 AA - DEL ENSG00000271730 ENST00000605885 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-787I22.3 Clone_based_vega_gene ENSG00000271730 33 0 0 45 17 27.4194 WASF1 0 genome.wustl.edu 37 6 110423249 110423249 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 110423249 110423249 G - DEL WASF1 ENST00000359451 human ensembl 74_37 -1 known frame_shift_del c.1064 p.P355fs 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF1 HGNC ENSG00000112290 67 0 0 63 10 13.6986 TRDN 0 genome.wustl.edu 37 6 123759209 123759209 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 123759209 123759209 T - DEL TRDN ENST00000398178 human ensembl 74_37 -1 known frame_shift_del c.1050 p.E351fs 1.000 NULL pfam_Asp-B-hydro/Triadin_dom - no_errors TRDN HGNC ENSG00000186439 22 0 0 8 4 33.3333 SOGA3 0 genome.wustl.edu 37 6 127794434 127794435 + Frame_Shift_Ins INS - - A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 127794434 127794435 - A INS SOGA3 ENST00000368268 human ensembl 74_37 -1 known frame_shift_ins c.2836_2835 p.V945fs 1.000:1.000 NULL pfam_SOGA - no_errors SOGA3 HGNC ENSG00000214338 41 0 0 39 11 22 LAMA2 0 genome.wustl.edu 37 6 129621993 129621993 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 129621993 129621993 C - DEL LAMA2 ENST00000421865 human ensembl 74_37 +1 known frame_shift_del c.3150 p.H1051fs 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin 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 130 0 0 138 16 10.3896 BCLAF1 0 genome.wustl.edu 37 6 136582195 136582195 + RNA DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 136582195 136582195 A - DEL BCLAF1 ENST00000529917 human ensembl 74_37 -1 known rna NULL NULL 0.995 - - - no_errors BCLAF1 HGNC ENSG00000029363 55 0 0 83 12 12.6316 GPR126 0 genome.wustl.edu 37 6 142718831 142718831 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 142718831 142718831 A - DEL GPR126 ENST00000367609 human ensembl 74_37 +1 known frame_shift_del c.1506 p.N504fs 0.254 NULL pfam_GPCR_2_secretin-like,pfam_CUB_dom,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Pentaxin,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR126 HGNC ENSG00000112414 20 0 0 25 5 16.6667 GRM1 0 genome.wustl.edu 37 6 146350671 146350672 + Frame_Shift_Ins INS - - T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 146350671 146350672 - T INS GRM1 ENST00000282753 human ensembl 74_37 +1 known frame_shift_ins c.18_19 p.P10fs 0.050:0.003 prints_GPCR_3_mtglu_rcpt_1 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 170 0 0 187 27 12.6168 TIAM2 0 genome.wustl.edu 37 6 155565829 155565834 + In_Frame_Del DEL AGTTTC AGTTTC - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 AGTTTC AGTTTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 155565829 155565834 AGTTTC - DEL TIAM2 ENST00000456144 human ensembl 74_37 +1 known in_frame_del c.3455_3460 p.FQ1153in_frame_del 1.000:0.998:1.000:1.000:1.000:1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM2 HGNC ENSG00000146426 109 0 0 114 17 12.9771 SYNJ2 0 genome.wustl.edu 37 6 158508009 158508009 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 158508009 158508009 C - DEL SYNJ2 ENST00000355585 human ensembl 74_37 +1 known frame_shift_del c.3331 p.P1113fs 1.000 NULL pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 77 0 0 64 8 11.1111 SFT2D1 0 genome.wustl.edu 37 6 166739573 166739573 + RNA DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 166739573 166739573 G - DEL SFT2D1 ENST00000494682 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SFT2D1 HGNC ENSG00000198818 40 0 0 54 11 16.9231 KDM1B 0 genome.wustl.edu 37 6 18166532 18166532 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 18166532 18166532 A - DEL KDM1B ENST00000388870 human ensembl 74_37 +1 known frame_shift_del c.340 p.I116fs 1.000 NULL pfam_Amino_oxidase,pfam_Znf_CW,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_SWIRM,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pfscan_SWIRM,pfscan_Znf_CW - no_errors KDM1B HGNC ENSG00000165097 73 0 0 55 18 24.6575 SLC44A4 0 genome.wustl.edu 37 6 31832357 31832359 + RNA DEL AAA AAA - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 31832357 31832359 AAA - DEL SLC44A4 ENST00000487680 human ensembl 74_37 -1 putative rna NULL NULL 0.055:0.066:0.070 - - - no_errors SLC44A4 HGNC ENSG00000204385 11 0 0 13 6 31.5789 TAP2 0 genome.wustl.edu 37 6 32805788 32805788 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 32805788 32805788 G - DEL TAP2 ENST00000374897 human ensembl 74_37 -1 known frame_shift_del c.223 p.L75fs 0.060 prints_ABC_B3,tigrfam_Ag_transporter2 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_ABC_B3,prints_ABC_B2,tigrfam_Ag_transporter2 - no_errors TAP2 HGNC ENSG00000204267 68 0 0 55 7 11.2903 PSMB8 0 genome.wustl.edu 37 6 32811742 32811743 + Frame_Shift_Ins INS - - G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 32811742 32811743 - G INS PSMB8 ENST00000374882 human ensembl 74_37 -1 known frame_shift_ins c.32_31 p.R11fs 0.002:0.000 NULL pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB8 HGNC ENSG00000204264 85 0 0 47 16 25.3968 DNAH8 0 genome.wustl.edu 37 6 38790618 38790618 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 38790618 38790618 T - DEL DNAH8 ENST00000359357 human ensembl 74_37 +1 known frame_shift_del c.2877 p.F960fs 0.001 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 35 0 0 19 4 17.3913 LRFN2 0 genome.wustl.edu 37 6 40399587 40399588 + Frame_Shift_Ins INS - - G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 40399587 40399588 - G INS LRFN2 ENST00000338305 human ensembl 74_37 -1 known frame_shift_ins c.1266_1265 p.E423fs 0.046:0.995 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN2 HGNC ENSG00000156564 109 0 0 78 23 22.7723 TRERF1 0 genome.wustl.edu 37 6 42227226 42227226 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 42227226 42227226 G - DEL TRERF1 ENST00000541110 human ensembl 74_37 -1 known frame_shift_del c.2180 p.P727fs 1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC ENSG00000124496 20 0 0 19 8 29.6296 GPR115 0 genome.wustl.edu 37 6 47678561 47678561 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 47678561 47678561 A - DEL GPR115 ENST00000371220 human ensembl 74_37 +1 known frame_shift_del c.410 p.K139fs 0.923 prints_GPCR_2_Ig-hepta_rcpt pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt - no_errors GPR115 HGNC ENSG00000153294 71 0 0 43 9 17.3077 DSP 0 genome.wustl.edu 37 6 7583159 7583160 + Frame_Shift_Ins INS - - GA TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 7583159 7583160 - GA INS DSP ENST00000379802 human ensembl 74_37 +1 known frame_shift_ins c.5664_5665 p.K1891fs 0.129:0.999 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 103 0 0 63 5 7.35294 PHIP 0 genome.wustl.edu 37 6 79650501 79650503 + In_Frame_Del DEL AAC AAC - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 AAC AAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 79650501 79650503 AAC - DEL PHIP ENST00000275034 human ensembl 74_37 -1 known in_frame_del c.5375_5373 p.L1791in_frame_del 1.000:1.000:1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors PHIP HGNC ENSG00000146247 59 0 0 59 6 9.23077 TTK 0 genome.wustl.edu 37 6 80751897 80751897 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 6 80751897 80751897 A - DEL TTK ENST00000369798 human ensembl 74_37 +1 known frame_shift_del c.2552 p.R854fs 0.102 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTK HGNC ENSG00000112742 46 0 0 64 14 17.9487 MEPCE 0 genome.wustl.edu 37 7 100028068 100028068 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 100028068 100028068 G - DEL MEPCE ENST00000310512 human ensembl 74_37 +1 known frame_shift_del c.427 p.G145fs 0.496 NULL pfam_Bin3 - no_errors MEPCE HGNC ENSG00000146834 34 0 0 24 4 14.2857 SLC12A9 0 genome.wustl.edu 37 7 100459489 100459490 + Frame_Shift_Ins INS - - G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 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 46 0 0 49 7 12.5 LOC101930494 0 genome.wustl.edu 37 7 128249557 128249557 + RNA DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 128249557 128249557 A - DEL LOC101930494 ENST00000605862 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-274B21.1 Clone_based_vega_gene ENSG00000242588 81 0 0 85 16 15.8416 MIR490 0 genome.wustl.edu 37 7 136587865 136587865 + RNA DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 136587865 136587865 T - DEL MIR490 ENST00000608269 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors hsa-mir-490 miRBase ENSG00000234352 69 0 0 58 10 14.7059 GSTK1 0 genome.wustl.edu 37 7 142962273 142962273 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 142962273 142962273 C - DEL GSTK1 ENST00000479303 human ensembl 74_37 +1 known frame_shift_del c.472 p.P159fs 0.003 NULL pfam_DSBA-like_thioredoxin_dom,superfamily_Thioredoxin-like_fold - no_errors GSTK1 HGNC ENSG00000197448 10 0 0 11 2 15.3846 CLCN1 0 genome.wustl.edu 37 7 143013362 143013362 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 143013362 143013362 C - DEL CLCN1 ENST00000343257 human ensembl 74_37 +1 known frame_shift_del c.57 p.Q21fs 1.000 prints_Cl_channel-1 pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl_channel-1 - no_errors CLCN1 HGNC ENSG00000188037 135 0 0 130 13 9.09091 ARHGEF5 0 genome.wustl.edu 37 7 144075858 144075858 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 144075858 144075858 C - DEL ARHGEF5 ENST00000056217 human ensembl 74_37 +1 known frame_shift_del c.4535 p.Q1514fs 1.000 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF5 HGNC ENSG00000050327 308 0 0 284 37 11.5265 CUL1 0 genome.wustl.edu 37 7 148427287 148427288 + Frame_Shift_Del DEL AG AG - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 148427287 148427288 AG - DEL CUL1 ENST00000325222 human ensembl 74_37 +1 known frame_shift_del c.73_74 p.R25fs 0.989:1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL1 HGNC ENSG00000055130 156 0 0 133 20 13.0719 CCDC126 0 genome.wustl.edu 37 7 23650855 23650855 + RNA DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 23650855 23650855 T - DEL CCDC126 ENST00000486109 human ensembl 74_37 +1 putative rna NULL NULL 0.020 - - - no_errors CCDC126 HGNC ENSG00000169193 12 0 0 18 5 21.7391 PPP1R17 0 genome.wustl.edu 37 7 31735179 31735179 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 31735179 31735179 A - DEL PPP1R17 ENST00000342032 human ensembl 74_37 +1 known frame_shift_del c.179 p.K62fs 0.999 NULL NULL - no_errors PPP1R17 HGNC ENSG00000106341 124 0 0 126 14 10 C7orf25 0 genome.wustl.edu 37 7 42949523 42949524 + Frame_Shift_Del DEL CT CT - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 42949523 42949524 CT - DEL C7orf25 ENST00000431882 human ensembl 74_37 -1 known frame_shift_del c.1151_1150 p.R384fs 1.000:1.000 pfam_DUF1308 pfam_DUF1308 - no_errors C7orf25 HGNC ENSG00000136197 66 0 0 62 16 20.5128 RADIL 0 genome.wustl.edu 37 7 4876168 4876168 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 4876168 4876168 C - DEL RADIL ENST00000399583 human ensembl 74_37 -1 known frame_shift_del c.604 p.D202fs 0.000 NULL pfam_Dil_domain,pfam_Ras-assoc,pfam_PDZ,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors RADIL HGNC ENSG00000157927 25 0 0 22 8 26.6667 RNF216 0 genome.wustl.edu 37 7 5765046 5765046 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 5765046 5765046 T - DEL RNF216 ENST00000389902 human ensembl 74_37 -1 known frame_shift_del c.1413 p.K471fs 0.999 NULL smart_Znf_C6HC - no_errors RNF216 HGNC ENSG00000011275 66 0 0 62 11 15.0685 C7orf62 0 genome.wustl.edu 37 7 88423882 88423882 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 88423882 88423882 A - DEL C7orf62 ENST00000297203 human ensembl 74_37 -1 known frame_shift_del c.375 p.F125fs 0.008 NULL NULL - no_errors C7orf62 HGNC ENSG00000164645 26 0 0 25 4 13.7931 SAMD9L 0 genome.wustl.edu 37 7 92760738 92760738 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 7 92760738 92760738 T - DEL SAMD9L ENST00000318238 human ensembl 74_37 -1 known frame_shift_del c.4547 p.N1516fs 0.000 NULL superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 81 0 0 71 13 15.4762 TRPS1 0 genome.wustl.edu 37 8 116632263 116632263 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 116632263 116632263 G - DEL TRPS1 ENST00000395715 human ensembl 74_37 -1 known frame_shift_del c.62 p.P21fs 1.000 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 40 0 0 73 6 7.59494 KLHL38 0 genome.wustl.edu 37 8 124664918 124664919 + Frame_Shift_Ins INS - - G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 124664918 124664919 - G INS KLHL38 ENST00000325995 human ensembl 74_37 -1 known frame_shift_ins c.249_248 p.T84fs 0.000:0.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL38 HGNC ENSG00000175946 74 0 0 80 12 13.0435 COL22A1 0 genome.wustl.edu 37 8 139606361 139606361 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 139606361 139606361 G - DEL COL22A1 ENST00000303045 human ensembl 74_37 -1 known frame_shift_del c.4514 p.P1505fs 1.000 pfam_Collagen pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 47 0 0 42 13 23.6364 SCRIB 0 genome.wustl.edu 37 8 144886852 144886852 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 144886852 144886852 G - DEL SCRIB ENST00000320476 human ensembl 74_37 -1 known frame_shift_del c.2895 p.T966fs 0.013 NULL pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC ENSG00000180900 13 0 0 28 6 17.6471 GRINA 0 genome.wustl.edu 37 8 145065718 145065718 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 145065718 145065718 C - DEL GRINA ENST00000313269 human ensembl 74_37 +1 known frame_shift_del c.327 p.N112fs 0.916 NULL pfam_Bax_inhibitor_1-related - no_errors GRINA HGNC ENSG00000178719 33 0 0 47 7 12.963 CYC1 0 genome.wustl.edu 37 8 145150876 145150876 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 145150876 145150876 C - DEL CYC1 ENST00000318911 human ensembl 74_37 +1 known frame_shift_del c.270 p.S93fs 1.000 superfamily_Cyt_c-like_dom pfam_Cyt_c1,superfamily_Cyt_c-like_dom,superfamily_Cyt_c1_TM_anchor_C,prints_Cyt_c1 - no_errors CYC1 HGNC ENSG00000179091 97 0 0 110 15 12 FOXH1 0 genome.wustl.edu 37 8 145699782 145699782 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 145699782 145699782 C - DEL FOXH1 ENST00000377317 human ensembl 74_37 -1 known frame_shift_del c.937 p.V313fs 0.123 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXH1 HGNC ENSG00000160973 117 0 0 127 14 9.92908 LPL 0 genome.wustl.edu 37 8 19805853 19805854 + Splice_Site INS - - A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 19805853 19805854 - A INS LPL ENST00000311322 human ensembl 74_37 +1 known splice_site_ins c.249+2_249+1 e2+2 1.000:0.987 - - - no_errors LPL HGNC ENSG00000175445 49 0 0 68 7 9.33333 EGR3 0 genome.wustl.edu 37 8 22548712 22548712 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 22548712 22548712 G - DEL EGR3 ENST00000317216 human ensembl 74_37 -1 known frame_shift_del c.438 p.Y147fs 0.996 pfam_DUF3446 pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR3 HGNC ENSG00000179388 33 0 0 45 6 11.7647 NUGGC 0 genome.wustl.edu 37 8 27888776 27888776 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 27888776 27888776 T - DEL NUGGC ENST00000341513 human ensembl 74_37 -1 known frame_shift_del c.1892 p.N631fs 0.005 NULL pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors NUGGC HGNC ENSG00000189233 176 0 0 239 32 11.8081 ZNF395 0 genome.wustl.edu 37 8 28210808 28210809 + Frame_Shift_Ins INS - - G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 28210808 28210809 - G INS ZNF395 ENST00000344423 human ensembl 74_37 -1 known frame_shift_ins c.701_700 p.H234fs 1.000:1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF395 HGNC ENSG00000186918 47 0 0 46 12 20.6897 BAG4 0 genome.wustl.edu 37 8 38066756 38066756 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 38066756 38066756 C - DEL BAG4 ENST00000287322 human ensembl 74_37 +1 known frame_shift_del c.859 p.P288fs 0.108 NULL pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain - no_errors BAG4 HGNC ENSG00000156735 105 0 0 110 17 13.3858 DKK4 0 genome.wustl.edu 37 8 42231846 42231846 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 42231846 42231846 A - DEL DKK4 ENST00000220812 human ensembl 74_37 -1 known frame_shift_del c.447 p.F149fs 0.023 pfam_Prokineticin_domain pfam_Dickkopf_N,pfam_Prokineticin_domain - no_errors DKK4 HGNC ENSG00000104371 120 0 0 129 7 5.14706 PRKDC 0 genome.wustl.edu 37 8 48689517 48689518 + Frame_Shift_Ins INS - - T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 48689517 48689518 - T INS PRKDC ENST00000314191 human ensembl 74_37 -1 known frame_shift_ins c.12067_12066 p.G4022fs 1.000:1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 86 0 0 87 15 14.7059 RP1 0 genome.wustl.edu 37 8 55533979 55533979 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 55533979 55533979 C - DEL RP1 ENST00000220676 human ensembl 74_37 +1 known frame_shift_del c.453 p.P153fs 0.069 smart_Doublecortin_dom pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 101 0 0 121 11 8.33333 C8orf34 0 genome.wustl.edu 37 8 69633596 69633597 + Frame_Shift_Ins INS - - T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 69633596 69633597 - T INS C8orf34 ENST00000518698 human ensembl 74_37 +1 known frame_shift_ins c.1328_1329 p.S444fs 0.992:0.995 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C8orf34 HGNC ENSG00000165084 31 0 0 49 8 14.0351 TRPA1 0 genome.wustl.edu 37 8 72935321 72935321 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 72935321 72935321 T - DEL TRPA1 ENST00000262209 human ensembl 74_37 -1 known frame_shift_del c.3180 p.K1060fs 1.000 NULL pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 58 0 0 71 5 6.57895 ENSG00000253334 0 genome.wustl.edu 37 8 82727641 82727641 + RNA DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 82727641 82727641 A - DEL ENSG00000253334 ENST00000524337 human ensembl 74_37 +1 known rna NULL NULL 0.496 - - - no_errors RP13-923O23.6 Clone_based_vega_gene ENSG00000253334 15 0 0 17 12 41.3793 NBN 0 genome.wustl.edu 37 8 90993676 90993676 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 90993676 90993676 T - DEL NBN ENST00000265433 human ensembl 74_37 -1 known frame_shift_del c.247 p.M83fs 1.000 pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pirsf_Nibrin_met,pfscan_FHA_dom pfam_DNA-repair_Nbs1_C,pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_BRCT_dom,smart_FHA_dom,pirsf_Nibrin_met,pfscan_FHA_dom - no_errors NBN HGNC ENSG00000104320 120 0 0 130 17 11.5646 ESRP1 0 genome.wustl.edu 37 8 95686611 95686611 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 8 95686611 95686611 A - DEL ESRP1 ENST00000433389 human ensembl 74_37 +1 known frame_shift_del c.1528 p.N512fs 1.000 smart_RRM_dom superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ESRP1 HGNC ENSG00000104413 74 0 0 81 14 14.7368 ZNF462 0 genome.wustl.edu 37 9 109687968 109687968 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 109687968 109687968 C - DEL ZNF462 ENST00000457913 human ensembl 74_37 +1 known frame_shift_del c.1775 p.T592fs 0.300 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 101 0 0 80 22 21.5686 INIP 0 genome.wustl.edu 37 9 115456515 115456516 + Splice_Site INS - - A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 115456515 115456516 - A INS INIP ENST00000374242 human ensembl 74_37 -1 known splice_site_ins c.26-3_26-2 e2-2 1.000:0.918 - - - no_errors INIP HGNC ENSG00000148153 29 0 0 36 8 18.1818 PRPF4 0 genome.wustl.edu 37 9 116038945 116038946 + Frame_Shift_Ins INS - - T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 116038945 116038946 - T INS PRPF4 ENST00000374198 human ensembl 74_37 +1 known frame_shift_ins c.148_149 p.L51fs 0.998:1.000 NULL pfam_WD40_repeat,pfam_PRP4-like,superfamily_WD40_repeat_dom,smart_SFM,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PRPF4 HGNC ENSG00000136875 161 0 0 178 48 21.2389 CNTRL 0 genome.wustl.edu 37 9 123875985 123875985 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 123875985 123875985 A - DEL CNTRL ENST00000238341 human ensembl 74_37 +1 known frame_shift_del c.1328 p.I446fs 0.553 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 20 0 0 27 9 25 PTGS1 0 genome.wustl.edu 37 9 125141077 125141077 + Frame_Shift_Del DEL C C - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 125141077 125141077 C - DEL PTGS1 ENST00000362012 human ensembl 74_37 +1 known frame_shift_del c.376 p.T128fs 1.000 superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors PTGS1 HGNC ENSG00000095303 67 0 0 86 18 17.3077 OR1L3 0 genome.wustl.edu 37 9 125437935 125437936 + Frame_Shift_Ins INS - - T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 125437935 125437936 - T INS OR1L3 ENST00000304820 human ensembl 74_37 +1 known frame_shift_ins c.527_528 p.C179fs 0.996:0.947 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1L3 HGNC ENSG00000171481 239 0 0 270 22 7.53425 C9orf78 0 genome.wustl.edu 37 9 132596001 132596001 + RNA DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 132596001 132596001 A - DEL C9orf78 ENST00000461762 human ensembl 74_37 -1 known rna NULL NULL 0.115 - - - no_errors C9orf78 HGNC ENSG00000136819 14 0 0 10 5 33.3333 UCK1 0 genome.wustl.edu 37 9 134401378 134401378 + RNA DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 134401378 134401378 G - DEL UCK1 ENST00000484876 human ensembl 74_37 -1 known rna NULL NULL 0.012 - - - no_errors UCK1 HGNC ENSG00000130717 174 1 0.571429 161 23 12.5 C9orf139 0 genome.wustl.edu 37 9 139929460 139929461 + Frame_Shift_Ins INS - - G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 139929460 139929461 - G INS C9orf139 ENST00000314330 human ensembl 74_37 +1 known frame_shift_ins c.527_528 p.R179fs 0.000:0.013 NULL NULL - no_errors C9orf139 HGNC ENSG00000180539 92 0 0 115 22 16.0584 NPDC1 0 genome.wustl.edu 37 9 139934526 139934526 + RNA DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 139934526 139934526 G - DEL NPDC1 ENST00000472668 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors NPDC1 HGNC ENSG00000107281 17 0 0 16 6 27.2727 HAUS6 0 genome.wustl.edu 37 9 19063047 19063047 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 19063047 19063047 T - DEL HAUS6 ENST00000380502 human ensembl 74_37 -1 known frame_shift_del c.1588 p.S530fs 0.006 NULL NULL - no_errors HAUS6 HGNC ENSG00000147874 135 0 0 132 14 9.58904 KCNV2 0 genome.wustl.edu 37 9 2729526 2729526 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 2729526 2729526 T - DEL KCNV2 ENST00000382082 human ensembl 74_37 +1 known frame_shift_del c.1437 p.F480fs 0.995 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl,prints_K_chnl_volt-dep_Kv9 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNV2 HGNC ENSG00000168263 55 0 0 51 8 13.5593 DDX58 0 genome.wustl.edu 37 9 32487588 32487588 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 32487588 32487588 T - DEL DDX58 ENST00000379883 human ensembl 74_37 -1 known frame_shift_del c.1256 p.N419fs 0.001 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_RIG-I_C-RD,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_DEATH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX58 HGNC ENSG00000107201 72 0 0 76 14 15.5556 PIGO 0 genome.wustl.edu 37 9 35091523 35091523 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 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 132 1 0.75188 107 12 10.084 PIGO 0 genome.wustl.edu 37 9 35091693 35091693 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 35091693 35091693 G - DEL PIGO ENST00000341666 human ensembl 74_37 -1 known frame_shift_del c.2191 p.R731fs 0.180 NULL pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors PIGO HGNC ENSG00000165282 65 0 0 64 9 12.3288 RUSC2 0 genome.wustl.edu 37 9 35555056 35555056 + Splice_Site DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 35555056 35555056 G - DEL RUSC2 ENST00000361226 human ensembl 74_37 +1 known splice_site_del c.2015-1 e2-1 1.000 - - - no_errors RUSC2 HGNC ENSG00000198853 119 0 0 138 13 8.60927 OR2S2 0 genome.wustl.edu 37 9 35957249 35957249 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 35957249 35957249 G - DEL OR2S2 ENST00000341959 human ensembl 74_37 -1 known frame_shift_del c.847 p.L283fs 0.104 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 OR2S2 HGNC ENSG00000122718 62 0 0 92 14 13.2075 PLGRKT 0 genome.wustl.edu 37 9 5361173 5361173 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 5361173 5361173 T - DEL PLGRKT ENST00000223864 human ensembl 74_37 -1 known frame_shift_del c.227 p.K76fs 1.000 pfam_DUF2368 pfam_DUF2368 - no_errors PLGRKT HGNC ENSG00000107020 41 0 0 38 5 11.6279 KIAA2026 0 genome.wustl.edu 37 9 5922885 5922885 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 5922885 5922885 T - DEL KIAA2026 ENST00000399933 human ensembl 74_37 -1 novel frame_shift_del c.3111 p.K1037fs 0.001 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 59 0 0 68 8 10.5263 ZCCHC6 0 genome.wustl.edu 37 9 88937822 88937823 + Frame_Shift_Ins INS - - A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 88937822 88937823 - A INS ZCCHC6 ENST00000375963 human ensembl 74_37 -1 known frame_shift_ins c.2843_2842 p.Y948fs 1.000:1.000 NULL pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC6 HGNC ENSG00000083223 70 0 0 54 8 12.9032 PHF2 0 genome.wustl.edu 37 9 96422612 96422612 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 9 96422612 96422612 A - DEL PHF2 ENST00000359246 human ensembl 74_37 +1 known frame_shift_del c.1468 p.K492fs 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 25 0 0 5 4 44.4444 ZCCHC12 0 genome.wustl.edu 37 X 117959606 117959607 + Frame_Shift_Ins INS - - T TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 X 117959606 117959607 - T INS ZCCHC12 ENST00000310164 human ensembl 74_37 +1 known frame_shift_ins c.399_400 p.N135fs 0.989:0.996 NULL superfamily_Znf_CCHC - no_errors ZCCHC12 HGNC ENSG00000174460 96 0 0 72 27 27.2727 F9 0 genome.wustl.edu 37 X 138644077 138644078 + Frame_Shift_Ins INS - - G TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 X 138644077 138644078 - G INS F9 ENST00000218099 human ensembl 74_37 +1 known frame_shift_ins c.1233_1234 p.P413fs 0.982:1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_FX,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,pirsf_Pept_S1A_FX,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain - no_errors F9 HGNC ENSG00000101981 72 0 0 57 14 19.7183 CTPS2 0 genome.wustl.edu 37 X 16609020 16609020 + RNA DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 X 16609020 16609020 A - DEL CTPS2 ENST00000483053 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTPS2 HGNC ENSG00000047230 16 0 0 16 5 23.8095 PRDX4 0 genome.wustl.edu 37 X 23693251 23693251 + Frame_Shift_Del DEL A A - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 X 23693251 23693251 A - DEL PRDX4 ENST00000379331 human ensembl 74_37 +1 known frame_shift_del c.504 p.R171fs 0.003 NULL pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold - no_errors PRDX4 HGNC ENSG00000123131 54 0 0 29 14 32.5581 ZNF41 0 genome.wustl.edu 37 X 47308259 47308259 + Frame_Shift_Del DEL T T - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 X 47308259 47308259 T - DEL ZNF41 ENST00000397050 human ensembl 74_37 -1 known frame_shift_del c.940 p.S314fs 0.015 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF41 HGNC ENSG00000147124 49 0 0 52 18 25.7143 WDR13 0 genome.wustl.edu 37 X 48457035 48457036 + RNA DEL CC CC - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 CC CC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 X 48457035 48457036 CC - DEL WDR13 ENST00000479279 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors WDR13 HGNC ENSG00000101940 16 0 0 12 8 40 GATA1 0 genome.wustl.edu 37 X 48650295 48650295 + Frame_Shift_Del DEL G G - TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 X 48650295 48650295 G - DEL GATA1 ENST00000376670 human ensembl 74_37 +1 known frame_shift_del c.265 p.G90fs 0.366 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA1 HGNC ENSG00000102145 61 0 0 44 20 31.25 MAGED1 0 genome.wustl.edu 37 X 51643310 51643311 + Frame_Shift_Ins INS - - C TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 X 51643310 51643311 - C INS MAGED1 ENST00000375695 human ensembl 74_37 +1 known frame_shift_ins c.2045_2046 p.E685fs 1.000:1.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGED1 HGNC ENSG00000179222 30 0 0 22 9 29.0323 FAM155B 0 genome.wustl.edu 37 X 68725671 68725672 + Frame_Shift_Ins INS - - A TCGA-HF-7132-01A-11D-2053-08 TCGA-HF-7132-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e024a76a-01c8-4d44-8569-f4459a61ab9f e18c9bee-e86d-4260-a286-c74e82550ad3 X 68725671 68725672 - A INS FAM155B ENST00000252338 human ensembl 74_37 +1 known frame_shift_ins c.546_547 p.N184fs 1.000:0.996 NULL NULL - no_errors FAM155B HGNC ENSG00000130054 27 0 0 30 10 25