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 FLG2 0 genome.wustl.edu 37 1 152327123 152327123 + Nonsense_Mutation SNP G G A TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 1 152327123 152327123 G A SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known nonsense c.3139 p.Q1047* 0.043 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 371 1 0.268817 333 71 17.5743 SERPINC1 0 genome.wustl.edu 37 1 173876592 173876592 + Missense_Mutation SNP A A C TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 1 173876592 173876592 A C SNP SERPINC1 ENST00000367698 human ensembl 74_37 -1 known missense c.1214 p.L405R 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINC1 HGNC ENSG00000117601 301 0 0 195 85 30.3571 EPHB2 0 genome.wustl.edu 37 1 23234547 23234547 + Silent SNP C C T TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 1 23234547 23234547 C T SNP EPHB2 ENST00000400191 human ensembl 74_37 +1 known silent c.2238 p.D746 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,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_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 184 0 0 100 51 33.7748 SLC35F3 0 genome.wustl.edu 37 1 234458881 234458881 + Silent SNP C C G TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 1 234458881 234458881 C G SNP SLC35F3 ENST00000366617 human ensembl 74_37 +1 known silent c.1158 p.L386 1.000 NULL pfam_DMT,pfam_Tpt_PEP_trans_dom,pfam_SLC35_F1/F2/F6 - no_errors SLC35F3 HGNC ENSG00000183780 65 0 0 67 35 34.3137 RYR2 0 genome.wustl.edu 37 1 237586400 237586400 + Missense_Mutation SNP G G T TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 1 237586400 237586400 G T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.851 p.G284V 1.000 pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,prints_Ryan_recept,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,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 127 1 0.78125 142 57 28.6432 OR2G2 0 genome.wustl.edu 37 1 247751887 247751887 + Missense_Mutation SNP T T G TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 1 247751887 247751887 T G SNP OR2G2 ENST00000320065 human ensembl 74_37 +1 known missense c.226 p.F76V 0.956 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G2 HGNC ENSG00000177489 114 0 0 154 56 26.6667 OR2W3 0 genome.wustl.edu 37 1 248059821 248059821 + Silent SNP A A G TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 1 248059821 248059821 A G SNP OR2W3 ENST00000360358 human ensembl 74_37 +1 known silent c.933 p.L311 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2W3 HGNC ENSG00000238243 26 0 0 22 12 35.2941 RABGGTB 0 genome.wustl.edu 37 1 76257946 76257946 + Nonsense_Mutation SNP T T A TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 1 76257946 76257946 T A SNP RABGGTB ENST00000319942 human ensembl 74_37 +1 known nonsense c.660 p.C220* 1.000 pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors RABGGTB HGNC ENSG00000137955 77 0 0 75 19 20.2128 GBF1 0 genome.wustl.edu 37 10 104121522 104121522 + Missense_Mutation SNP G G C TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 10 104121522 104121522 G C SNP GBF1 ENST00000369983 human ensembl 74_37 +1 known missense c.1536 p.K512N 1.000 superfamily_ARM-type_fold pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors GBF1 HGNC ENSG00000107862 94 0 0 74 8 9.7561 CCDC147 0 genome.wustl.edu 37 10 106124545 106124545 + Silent SNP C C A TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 10 106124545 106124545 C A SNP CCDC147 ENST00000369704 human ensembl 74_37 +1 known silent c.495 p.L165 0.975 NULL superfamily_Homeodomain-like - no_errors CCDC147 HGNC ENSG00000120051 37 0 0 61 7 10.2941 EMX2 0 genome.wustl.edu 37 10 119305202 119305202 + Missense_Mutation SNP C C T TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 10 119305202 119305202 C T SNP EMX2 ENST00000553456 human ensembl 74_37 +1 known missense c.466 p.R156W 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_HTH_motif - no_errors EMX2 HGNC ENSG00000170370 48 0 0 74 11 12.9412 TACC2 0 genome.wustl.edu 37 10 123842259 123842259 + Missense_Mutation SNP A A G TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 10 123842259 123842259 A G SNP TACC2 ENST00000334433 human ensembl 74_37 +1 known missense c.244 p.K82E 0.000 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 96 0 0 143 23 13.8554 CDHR1 0 genome.wustl.edu 37 10 85968592 85968592 + Missense_Mutation SNP C C A TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 10 85968592 85968592 C A SNP CDHR1 ENST00000372117 human ensembl 74_37 +1 known missense c.1275 p.N425K 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR1 HGNC ENSG00000148600 46 0 0 68 9 11.6883 RNLS 0 genome.wustl.edu 37 10 90342921 90342921 + Silent SNP G G A TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 10 90342921 90342921 G A SNP RNLS ENST00000331772 human ensembl 74_37 -1 known silent c.27 p.A9 0.940 NULL pfam_Amino_oxidase - no_errors RNLS HGNC ENSG00000184719 32 0 0 24 11 31.4286 ROBO3 0 genome.wustl.edu 37 11 124739005 124739005 + Silent SNP C C T TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 11 124739005 124739005 C T SNP ROBO3 ENST00000397801 human ensembl 74_37 +1 known silent c.468 p.N156 0.990 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO3 HGNC ENSG00000154134 14 0 0 10 4 28.5714 LRRC55 0 genome.wustl.edu 37 11 56954951 56954951 + Silent SNP C C A TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 11 56954951 56954951 C A SNP LRRC55 ENST00000497933 human ensembl 74_37 +1 known silent c.1023 p.I341 0.881 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC55 HGNC ENSG00000183908 24 0 0 24 10 29.4118 CTNND1 0 genome.wustl.edu 37 11 57573377 57573377 + Silent SNP T T A TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 11 57573377 57573377 T A SNP CTNND1 ENST00000399050 human ensembl 74_37 +1 known silent c.1746 p.L582 0.518 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND1 HGNC ENSG00000198561 41 0 0 28 6 17.6471 OR52L1 0 genome.wustl.edu 37 11 6007312 6007312 + Silent SNP A A G TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 11 6007312 6007312 A G SNP OR52L1 ENST00000332249 human ensembl 74_37 -1 known silent c.849 p.G283 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52L1 HGNC ENSG00000183313 37 0 0 42 18 30 OR2AT4 0 genome.wustl.edu 37 11 74800481 74800481 + Missense_Mutation SNP C C T TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 11 74800481 74800481 C T SNP OR2AT4 ENST00000305159 human ensembl 74_37 -1 known missense c.278 p.G93E 0.004 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt - no_errors OR2AT4 HGNC ENSG00000171561 41 0 0 44 17 27.8689 POLR3B 0 genome.wustl.edu 37 12 106786900 106786900 + Missense_Mutation SNP G G T TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 12 106786900 106786900 G T SNP POLR3B ENST00000228347 human ensembl 74_37 +1 known missense c.815 p.C272F 1.000 pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_5 - no_errors POLR3B HGNC ENSG00000013503 129 0 0 120 53 30.6358 TMEM119 0 genome.wustl.edu 37 12 108985737 108985737 + Silent SNP A A G TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 12 108985737 108985737 A G SNP TMEM119 ENST00000392806 human ensembl 74_37 -1 known silent c.423 p.S141 0.070 NULL NULL - no_errors TMEM119 HGNC ENSG00000183160 12 0 0 9 6 40 PIWIL1 0 genome.wustl.edu 37 12 130834487 130834487 + Missense_Mutation SNP T T C TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 12 130834487 130834487 T C SNP PIWIL1 ENST00000245255 human ensembl 74_37 +1 known missense c.1019 p.V340A 1.000 pfam_PAZ_dom,superfamily_PAZ_dom,smart_PAZ_dom,pfscan_PAZ_dom pfam_Piwi,pfam_PAZ_dom,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL1 HGNC ENSG00000125207 61 0 0 65 8 10.9589 ZNF268 0 genome.wustl.edu 37 12 133764473 133764473 + Missense_Mutation SNP G G C TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 12 133764473 133764473 G C SNP ZNF268 ENST00000228289 human ensembl 74_37 +1 known missense c.49 p.E17Q 0.971 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 ZNF268 HGNC ENSG00000090612 13 0 0 10 3 23.0769 CACNA2D4 0 genome.wustl.edu 37 12 1992095 1992095 + Missense_Mutation SNP G G A TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 12 1992095 1992095 G A SNP CACNA2D4 ENST00000382722 human ensembl 74_37 -1 known missense c.1423 p.R475C 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D4 HGNC ENSG00000151062 26 0 0 22 11 33.3333 KRT73 0 genome.wustl.edu 37 12 53007513 53007513 + Missense_Mutation SNP G G A TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 12 53007513 53007513 G A SNP KRT73 ENST00000305748 human ensembl 74_37 -1 known missense c.943 p.R315W 0.025 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT73 HGNC ENSG00000186049 117 0 0 70 25 26.3158 VWF 0 genome.wustl.edu 37 12 6080794 6080794 + Missense_Mutation SNP G G A TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 12 6080794 6080794 G A SNP VWF ENST00000261405 human ensembl 74_37 -1 known missense c.7519 p.R2507W 0.491 pirsf_VWF pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 115 0 0 67 29 30.2083 BRCA2 0 genome.wustl.edu 37 13 32911048 32911048 + Missense_Mutation SNP C C G TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 13 32911048 32911048 C G SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known missense c.2556 p.N852K 0.002 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 44 0 0 46 16 25.8065 VPS36 0 genome.wustl.edu 37 13 53016581 53016581 + Splice_Site SNP C C G TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 13 53016581 53016581 C G SNP VPS36 ENST00000378060 human ensembl 74_37 -1 known splice_site c.97-1 e2-1 1.000 - - - no_errors VPS36 HGNC ENSG00000136100 34 0 0 42 16 27.5862 PCDH17 0 genome.wustl.edu 37 13 58208916 58208916 + Missense_Mutation SNP G G A TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 13 58208916 58208916 G A SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.2236 p.E746K 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 51 0 0 23 12 34.2857 NFATC4 0 genome.wustl.edu 37 14 24845524 24845524 + Missense_Mutation SNP C C T TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 14 24845524 24845524 C T SNP NFATC4 ENST00000413692 human ensembl 74_37 +1 known missense c.2270 p.P757L 0.171 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC4 HGNC ENSG00000100968 167 0 0 96 35 26.7176 KCNK13 0 genome.wustl.edu 37 14 90650473 90650473 + Missense_Mutation SNP C C T TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 14 90650473 90650473 C T SNP KCNK13 ENST00000282146 human ensembl 74_37 +1 known missense c.353 p.P118L 1.000 pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_THIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK13 HGNC ENSG00000152315 104 0 0 28 21 42.8571 GOLGA8I 0 genome.wustl.edu 37 15 23261950 23261950 + Silent SNP A A G TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 15 23261950 23261950 A G SNP GOLGA8I ENST00000450802 human ensembl 74_37 +1 known silent c.1062 p.E354 0.001 NULL NULL - no_errors GOLGA8I HGNC ENSG00000153666 26 0 0 18 3 14.2857 TMEM202 0 genome.wustl.edu 37 15 72699483 72699483 + Missense_Mutation SNP A A G TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 15 72699483 72699483 A G SNP TMEM202 ENST00000341689 human ensembl 74_37 +1 known missense c.544 p.R182G 0.001 NULL NULL - no_errors TMEM202 HGNC ENSG00000187806 113 0 0 88 32 26.6667 SH3GL3 0 genome.wustl.edu 37 15 84245455 84245455 + Missense_Mutation SNP T T G TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 15 84245455 84245455 T G SNP SH3GL3 ENST00000324537 human ensembl 74_37 +1 known missense c.610 p.L204V 0.993 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors SH3GL3 HGNC ENSG00000140600 43 0 0 42 9 17.6471 OTOA 0 genome.wustl.edu 37 16 21716604 21716604 + Silent SNP C C T TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 16 21716604 21716604 C T SNP OTOA ENST00000286149 human ensembl 74_37 +1 known silent c.1137 p.G379 0.000 NULL NULL - no_errors OTOA HGNC ENSG00000155719 106 0 0 55 27 32.9268 TERF2IP 0 genome.wustl.edu 37 16 75681861 75681861 + Missense_Mutation SNP C C G TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 16 75681861 75681861 C G SNP TERF2IP ENST00000300086 human ensembl 74_37 +1 known missense c.81 p.S27R 0.942 superfamily_BRCT_dom pfam_Rap1_Myb_dom,superfamily_Homeodomain-like,superfamily_BRCT_dom - no_errors TERF2IP HGNC ENSG00000166848 51 0 0 40 4 9.09091 LOC100505782 0 genome.wustl.edu 37 17 39567652 39567652 + RNA SNP C C T TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 17 39567652 39567652 C T SNP LOC100505782 ENST00000432258 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC003958.2 Clone_based_vega_gene ENSG00000234859 22 0 0 32 3 8.57143 PELP1 0 genome.wustl.edu 37 17 4577819 4577819 + Missense_Mutation SNP G G A TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 17 4577819 4577819 G A SNP PELP1 ENST00000301396 human ensembl 74_37 -1 known missense c.2000 p.A667V 0.965 NULL pfam_Uncharacterised_NUC202,superfamily_ARM-type_fold - no_errors PELP1 HGNC ENSG00000141456 62 0 0 43 3 6.52174 CD300LF 0 genome.wustl.edu 37 17 72708985 72708985 + Nonsense_Mutation SNP G G T TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 17 72708985 72708985 G T SNP CD300LF ENST00000326165 human ensembl 74_37 -1 known nonsense c.21 p.Y7* 0.000 pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD300LF HGNC ENSG00000186074 50 0 0 30 12 28.5714 TP53 0 genome.wustl.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 17 7578406 7578406 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.524 p.R175H 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 84 0 0 22 19 46.3415 NLRP12 0 genome.wustl.edu 37 19 54313731 54313731 + Silent SNP G G A TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 19 54313731 54313731 G A SNP NLRP12 ENST00000324134 human ensembl 74_37 -1 known silent c.1182 p.N394 0.419 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP12 HGNC ENSG00000142405 333 0 0 181 107 37.1528 KCNH7 0 genome.wustl.edu 37 2 163230084 163230084 + Missense_Mutation SNP C C A TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 2 163230084 163230084 C A SNP KCNH7 ENST00000332142 human ensembl 74_37 -1 known missense c.3220 p.V1074L 1.000 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 41 0 0 57 32 35.9551 XIRP2 0 genome.wustl.edu 37 2 168108443 168108443 + Missense_Mutation SNP C C G TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 2 168108443 168108443 C G SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.10541 p.S3514C 1.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 26 0 0 36 14 28 TTN 0 genome.wustl.edu 37 2 179443626 179443626 + Missense_Mutation SNP C C T TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 2 179443626 179443626 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.60427 p.G20143S 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 46 0 0 96 28 22.5806 APOB 0 genome.wustl.edu 37 2 21225842 21225842 + Missense_Mutation SNP A A G TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 2 21225842 21225842 A G SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.12452 p.L4151P 0.021 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 102 0 0 107 37 25.6944 EPHA4 0 genome.wustl.edu 37 2 222320295 222320295 + Missense_Mutation SNP G G A TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 2 222320295 222320295 G A SNP EPHA4 ENST00000281821 human ensembl 74_37 -1 known missense c.1687 p.L563F 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_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 28 0 0 25 9 26.4706 DOCK10 0 genome.wustl.edu 37 2 225639637 225639637 + Missense_Mutation SNP G G A TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 2 225639637 225639637 G A SNP DOCK10 ENST00000258390 human ensembl 74_37 -1 known missense c.5998 p.R2000W 0.030 pfam_DOCK_C,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 DOCK10 HGNC ENSG00000135905 9 0 0 7 4 36.3636 DOCK10 0 genome.wustl.edu 37 2 225661722 225661722 + Missense_Mutation SNP C C G TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 2 225661722 225661722 C G SNP DOCK10 ENST00000258390 human ensembl 74_37 -1 known missense c.4786 p.E1596Q 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 DOCK10 HGNC ENSG00000135905 115 0 0 110 44 28.5714 BCL11A 0 genome.wustl.edu 37 2 60679675 60679675 + RNA SNP C C T TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 2 60679675 60679675 C T SNP BCL11A ENST00000489516 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors BCL11A HGNC ENSG00000119866 91 0 0 53 19 26.3889 CDH22 0 genome.wustl.edu 37 20 44845476 44845476 + Missense_Mutation SNP C C T TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 20 44845476 44845476 C T SNP CDH22 ENST00000372262 human ensembl 74_37 -1 known missense c.827 p.R276H 0.089 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,superfamily_MFS_dom_general_subst_transpt,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH22 HGNC ENSG00000149654 100 0 0 80 23 22.3301 SLC13A3 0 genome.wustl.edu 37 20 45204220 45204220 + Missense_Mutation SNP C C A TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 20 45204220 45204220 C A SNP SLC13A3 ENST00000279027 human ensembl 74_37 -1 known missense c.1324 p.G442C 1.000 pfam_Na/sul_symport,pfam_Cit_transptr-like_dom pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A3 HGNC ENSG00000158296 9 0 0 17 9 34.6154 UMODL1 0 genome.wustl.edu 37 21 43496251 43496251 + Missense_Mutation SNP A A G TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 21 43496251 43496251 A G SNP UMODL1 ENST00000408989 human ensembl 74_37 +1 known missense c.214 p.K72E 1.000 pfam_EMI_domain,pfscan_EMI_domain pfam_ZP_dom,pfam_SEA_dom,pfam_EGF-like_Ca-bd_dom,pfam_EMI_domain,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_EGF-like_Ca-bd_dom,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom - no_errors UMODL1 HGNC ENSG00000177398 73 0 0 74 16 17.7778 UMODL1 0 genome.wustl.edu 37 21 43496285 43496285 + Missense_Mutation SNP A A C TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 21 43496285 43496285 A C SNP UMODL1 ENST00000408989 human ensembl 74_37 +1 known missense c.248 p.E83A 0.087 pfam_EMI_domain,pfscan_EMI_domain pfam_ZP_dom,pfam_SEA_dom,pfam_EGF-like_Ca-bd_dom,pfam_EMI_domain,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_EGF-like_Ca-bd_dom,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom - no_errors UMODL1 HGNC ENSG00000177398 99 0 0 81 7 7.95455 LOC101927051 0 genome.wustl.edu 37 22 38038466 38038466 + RNA SNP T T A TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 22 38038466 38038466 T A SNP LOC101927051 ENST00000456099 human ensembl 74_37 -1 known rna NULL NULL 0.019 - - - no_errors Z83844.1 Clone_based_vega_gene ENSG00000233360 15 0 0 11 4 26.6667 RHOA 0 genome.wustl.edu 37 3 49405953 49405953 + Missense_Mutation SNP C C T TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 3 49405953 49405953 C T SNP RHOA ENST00000418115 human ensembl 74_37 -1 known missense c.185 p.G62E 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOA HGNC ENSG00000067560 115 0 0 36 36 50 CCKAR 0 genome.wustl.edu 37 4 26483296 26483296 + Silent SNP C C T TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 4 26483296 26483296 C T SNP CCKAR ENST00000295589 human ensembl 74_37 -1 known silent c.1251 p.S417 0.000 prints_Cholcskin_rcpt pfam_GPCR_Rhodpsn,pfam_CholecystokininA_recpt_N,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Cholcy_rcpt_A,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_Gastrin_rcpt,prints_NPY_rcpt - no_errors CCKAR HGNC ENSG00000163394 164 0 0 118 42 26.25 SMR3B 0 genome.wustl.edu 37 4 71255426 71255426 + Missense_Mutation SNP C C T TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 4 71255426 71255426 C T SNP SMR3B ENST00000304915 human ensembl 74_37 +1 known missense c.101 p.P34L 0.000 NULL NULL - no_errors SMR3B HGNC ENSG00000171201 66 0 0 58 20 25.641 PCDHGA8 0 genome.wustl.edu 37 5 140773983 140773983 + Missense_Mutation SNP A A G TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 5 140773983 140773983 A G SNP PCDHGA8 ENST00000398604 human ensembl 74_37 +1 known missense c.1603 p.S535G 0.037 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 PCDHGA8 HGNC ENSG00000253767 163 1 0.609756 79 53 40.1515 CPEB4 0 genome.wustl.edu 37 5 173376580 173376580 + Missense_Mutation SNP A A G TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 5 173376580 173376580 A G SNP CPEB4 ENST00000265085 human ensembl 74_37 +1 known missense c.1526 p.K509R 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB4 HGNC ENSG00000113742 29 0 0 37 11 22.9167 HRH2 0 genome.wustl.edu 37 5 175110886 175110886 + Missense_Mutation SNP A A G TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 5 175110886 175110886 A G SNP HRH2 ENST00000377291 human ensembl 74_37 +1 known missense c.650 p.N217S 0.858 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H2_rcpt,prints_5HT6_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H2_rcpt,prints_GPCR_Rhodpsn,prints_5HT6_rcpt - no_errors HRH2 HGNC ENSG00000113749 74 0 0 56 14 20 GCNT4 0 genome.wustl.edu 37 5 74325257 74325257 + Missense_Mutation SNP T T A TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 5 74325257 74325257 T A SNP GCNT4 ENST00000322348 human ensembl 74_37 -1 known missense c.606 p.R202S 0.701 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT4 HGNC ENSG00000176928 95 0 0 53 33 38.3721 OTP 0 genome.wustl.edu 37 5 76932916 76932916 + Silent SNP G G A TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 5 76932916 76932916 G A SNP OTP ENST00000306422 human ensembl 74_37 -1 known silent c.177 p.P59 0.983 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_HTH_motif,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors OTP HGNC ENSG00000171540 29 0 0 15 7 31.8182 SOGA3 0 genome.wustl.edu 37 6 127836184 127836184 + Silent SNP G G A TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 6 127836184 127836184 G A SNP SOGA3 ENST00000368268 human ensembl 74_37 -1 known silent c.1110 p.I370 0.993 NULL pfam_SOGA - no_errors SOGA3 HGNC ENSG00000214338 121 0 0 42 43 50.5882 SLC22A1 0 genome.wustl.edu 37 6 160555103 160555103 + Missense_Mutation SNP G G A TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 6 160555103 160555103 G A SNP SLC22A1 ENST00000366963 human ensembl 74_37 +1 known missense c.785 p.R262H 0.997 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A1 HGNC ENSG00000175003 31 0 0 17 17 50 HDGFL1 0 genome.wustl.edu 37 6 22570002 22570002 + Silent SNP C C T TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 6 22570002 22570002 C T SNP HDGFL1 ENST00000230012 human ensembl 74_37 +1 known silent c.198 p.F66 1.000 pfam_PWWP_dom pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom - no_errors HDGFL1 HGNC ENSG00000112273 42 0 0 17 14 45.1613 HIST1H1B 0 genome.wustl.edu 37 6 27834888 27834888 + Silent SNP C C T TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 6 27834888 27834888 C T SNP HIST1H1B ENST00000331442 human ensembl 74_37 -1 known silent c.420 p.K140 1.000 NULL pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1B HGNC ENSG00000184357 264 0 0 149 44 22.7979 APOM 0 genome.wustl.edu 37 6 31625241 31625241 + Missense_Mutation SNP G G A TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 6 31625241 31625241 G A SNP APOM ENST00000375916 human ensembl 74_37 +1 known missense c.428 p.R143H 1.000 pfam_ApoM,superfamily_Calycin-like pfam_ApoM,superfamily_Calycin-like - no_errors APOM HGNC ENSG00000204444 47 0 0 20 16 44.4444 MSH5-SAPCD1 0 genome.wustl.edu 37 6 31730316 31730316 + RNA SNP T T C TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 6 31730316 31730316 T C SNP MSH5-SAPCD1 ENST00000491552 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MSH5-SAPCD1 HGNC ENSG00000255152 82 0 0 41 29 41.4286 CRISP2 0 genome.wustl.edu 37 6 49667600 49667600 + Nonsense_Mutation SNP C C T TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 6 49667600 49667600 C T SNP CRISP2 ENST00000339139 human ensembl 74_37 -1 known nonsense c.188 p.W63* 1.000 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 pfam_Cysteine_rich_secretory,pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors CRISP2 HGNC ENSG00000124490 28 0 0 27 6 18.1818 LRRC1 0 genome.wustl.edu 37 6 53706991 53706991 + Silent SNP C C T TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 6 53706991 53706991 C T SNP LRRC1 ENST00000370888 human ensembl 74_37 +1 known silent c.243 p.F81 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC1 HGNC ENSG00000137269 100 0 0 76 16 17.3913 ATP5J2 0 genome.wustl.edu 37 7 99056877 99056877 + Missense_Mutation SNP C C T TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 7 99056877 99056877 C T SNP ATP5J2 ENST00000292475 human ensembl 74_37 -1 known missense c.149 p.R50Q 1.000 pfam_F1F0-ATPsyn_F_prd pfam_F1F0-ATPsyn_F_prd - no_errors ATP5J2 HGNC ENSG00000241468 81 0 0 59 8 11.9403 NRG1 0 genome.wustl.edu 37 8 32621813 32621813 + Missense_Mutation SNP C C T TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 8 32621813 32621813 C T SNP NRG1 ENST00000338921 human ensembl 74_37 +1 known missense c.1840 p.R614C 1.000 pfam_Neuregulin_1_C pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin - no_errors NRG1 HGNC ENSG00000157168 55 0 0 37 19 33.9286 HNF4G 0 genome.wustl.edu 37 8 76471222 76471222 + Missense_Mutation SNP T T A TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 8 76471222 76471222 T A SNP HNF4G ENST00000396423 human ensembl 74_37 +1 known missense c.1043 p.L348H 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4 - no_errors HNF4G HGNC ENSG00000164749 77 0 0 77 35 31.25 USP26 0 genome.wustl.edu 37 X 132161318 132161318 + Missense_Mutation SNP G G C TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 X 132161318 132161318 G C SNP USP26 ENST00000370832 human ensembl 74_37 -1 known missense c.931 p.Q311E 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP26 HGNC ENSG00000134588 23 0 0 10 20 66.6667 DMD 0 genome.wustl.edu 37 X 32429956 32429956 + Silent SNP G G A TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 X 32429956 32429956 G A SNP DMD ENST00000357033 human ensembl 74_37 -1 known silent c.4146 p.I1382 1.000 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 15 0 0 22 32 59.2593 OPHN1 0 genome.wustl.edu 37 X 67273626 67273626 + Missense_Mutation SNP G G A TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 X 67273626 67273626 G A SNP OPHN1 ENST00000355520 human ensembl 74_37 -1 known missense c.2185 p.R729W 0.997 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors OPHN1 HGNC ENSG00000079482 30 0 0 34 3 8.10811 RGS2 0 genome.wustl.edu 37 1 192779562 192779563 + Splice_Site INS - - T TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 1 192779562 192779563 - T INS RGS2 ENST00000235382 human ensembl 74_37 +1 known splice_site_ins c.274+1_274+1 e3+1 1.000:1.000 - - - no_errors RGS2 HGNC ENSG00000116741 110 0 0 58 32 35.5556 COL5A3 0 genome.wustl.edu 37 19 10077045 10077046 + Frame_Shift_Ins INS - - A TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 19 10077045 10077046 - A INS COL5A3 ENST00000264828 human ensembl 74_37 -1 known frame_shift_ins c.4727_4726 p.C1576fs 1.000:1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 84 0 0 26 9 25.7143 ZNF880 0 genome.wustl.edu 37 19 52877717 52877717 + Frame_Shift_Del DEL T T - TCGA-D7-6520-01A-11D-1800-08 TCGA-D7-6520-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 233e55da-1f67-4f09-8563-e0f9292bd47d c38a0e6a-d67a-491d-80b3-72c40be497e1 19 52877717 52877717 T - DEL ZNF880 ENST00000597976 human ensembl 74_37 +1 putative frame_shift_del c.305 p.F105fs 0.091 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF880 HGNC ENSG00000221923 18 0 0 11 3 21.4286