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 dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val SUV39H1 0 genome.wustl.edu 37 X 48559061 48559061 + Missense_Mutation SNP C C T TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e X 48559061 48559061 C T SNP SUV39H1 ENST00000337852 human ensembl 74_37 +1 known missense c.778 p.R260C 1.000 smart_SET_dom,pirsf_Histone_H3-K9_MeTrfase,pfscan_SET_dom pfam_SET_dom,pfam_Pre-SET_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,smart_Post-SET_dom,pirsf_Histone_H3-K9_MeTrfase,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom,pfscan_Chromo_domain/shadow - no_errors SUV39H1 HGNC ENSG00000101945 tier1 - - 121 0 0.00 23 45 66.18 66 1 1.49 20 39 66.10 CDH12 0 genome.wustl.edu 37 5 22212547 22212547 + R SNP T T C TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 5 22212547 22212547 T C SNP CDH12 ENST00000518209 human ensembl 74_37 -1 known rna NULL NULL 0.882 - - - no_errors CDH12 HGNC ENSG00000154162 tier1 - - 13 0 0.00 14 7 33.33 41 0 0.00 45 31 40.79 GPR98 0 genome.wustl.edu 37 5 90136405 90136405 + Missense_Mutation SNP G G T TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 5 90136405 90136405 G T SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.16622 p.S5541I 0.432 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 tier1 - - 77 0 0.00 25 21 45.65 85 0 0.00 84 40 32.26 FRYL 0 genome.wustl.edu 37 4 48588694 48588694 + Silent SNP A A T TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 4 48588694 48588694 A T SNP FRYL ENST00000358350 human ensembl 74_37 -1 known silent c.1692 p.I564 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 tier1 - - 41 0 0.00 21 7 25.00 100 0 0.00 84 25 22.94 OR10AG1 0 genome.wustl.edu 37 11 55735654 55735654 + Missense_Mutation SNP G G A TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 11 55735654 55735654 G A SNP OR10AG1 ENST00000312345 human ensembl 74_37 -1 known missense c.286 p.L96F 0.000 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 OR10AG1 HGNC ENSG00000174970 tier1 - - 39 0 0.00 9 34 79.07 53 0 0.00 18 31 63.27 OR4C5 0 genome.wustl.edu 37 11 48387367 48387367 + Silent SNP T T C TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 11 48387367 48387367 T C SNP OR4C5 ENST00000319813 human ensembl 74_37 -1 known silent c.651 p.G217 0.069 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C5 HGNC ENSG00000176540 tier1 - - 43 0 0.00 22 14 38.89 113 0 0.00 63 70 52.24 MCF2L 0 genome.wustl.edu 37 13 113563587 113563587 + Missense_Mutation SNP C C G TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 13 113563587 113563587 C G SNP MCF2L ENST00000397036 human ensembl 74_37 +1 putative missense c.190 p.Q64E 0.000 NULL NULL - no_errors MCF2L HGNC ENSG00000126217 tier1 - - 45 0 0.00 12 21 63.64 63 0 0.00 12 19 61.29 CHR4 0 genome.wustl.edu 37 20 61982158 61982158 + Missense_Mutation SNP T T A TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 20 61982158 61982158 T A SNP CHR4 ENST00000370263 human ensembl 74_37 -1 known missense c.605 p.D202V 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHR4 HGNC ENSG00000101204 tier1 - - 80 0 0.00 29 27 48.21 48 0 0.00 28 32 53.33 FRYL 0 genome.wustl.edu 37 4 48588693 48588693 + Missense_Mutation SNP G G A TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 4 48588693 48588693 G A SNP FRYL ENST00000358350 human ensembl 74_37 -1 known missense c.1693 p.P565S 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 tier1 - - 41 0 0.00 20 8 28.57 100 0 0.00 83 25 23.15 MBD6 0 genome.wustl.edu 37 12 57922286 57922286 + Missense_Mutation SNP A A T TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 12 57922286 57922286 A T SNP MBD6 ENST00000355673 human ensembl 74_37 +1 known missense c.2763 p.E921D 1.000 NULL superfamily_D-bd_dom,smart_Methyl_CpG_D-bd,pfscan_Methyl_CpG_D-bd - no_errors MBD6 HGNC ENSG00000166987 tier1 - - 53 0 0.00 40 12 23.08 93 0 0.00 95 20 17.39 LYRM5 0 genome.wustl.edu 37 12 25357129 25357129 + Missense_Mutation SNP C C G TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 12 25357129 25357129 C G SNP LYRM5 ENST00000381356 human ensembl 74_37 +1 known missense c.156 p.I52M 1.000 pfam_Complex1_LYR pfam_Complex1_LYR - no_errors LYRM5 HGNC ENSG00000205707 tier1 - - 34 0 0.00 32 23 41.82 71 0 0.00 59 41 41.00 PRKG1 0 genome.wustl.edu 37 10 53841418 53841418 + Splice_Site SNP G G T TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 10 53841418 53841418 G T SNP PRKG1 ENST00000373975 human ensembl 74_37 +1 putative splice_site c.44+1 e1+1 0.026 - - - no_errors PRKG1 HGNC ENSG00000185532 tier1 - - 37 0 0.00 11 10 47.62 82 0 0.00 31 58 65.17 PSKH2 0 genome.wustl.edu 37 8 87076845 87076845 + Silent SNP A A T TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 8 87076845 87076845 A T SNP PSKH2 ENST00000276616 human ensembl 74_37 -1 known silent c.201 p.A67 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 PSKH2 HGNC ENSG00000147613 tier1 - - 22 0 0.00 22 4 15.38 47 0 0.00 60 18 23.08 F5 0 genome.wustl.edu 37 1 169509969 169509969 + Missense_Mutation SNP C C G TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 1 169509969 169509969 C G SNP F5 ENST00000367797 human ensembl 74_37 -1 known missense c.4359 p.Q1453H 0.017 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 tier1 - - 44 0 0.00 44 23 34.33 72 0 0.00 95 57 37.50 GOT1L1 0 genome.wustl.edu 37 8 37792593 37792593 + Missense_Mutation SNP T T G TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 8 37792593 37792593 T G SNP GOT1L1 ENST00000307599 human ensembl 74_37 -1 known missense c.1070 p.N357T 0.021 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,prints_Asp_trans pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,prints_Asp_trans - no_errors GOT1L1 HGNC ENSG00000169154 tier1 - - 75 0 0.00 17 19 52.78 82 0 0.00 21 44 67.69 MACF1 0 genome.wustl.edu 37 1 39929473 39929473 + R SNP C C A TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 1 39929473 39929473 C A SNP MACF1 ENST00000497964 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MACF1 HGNC ENSG00000127603 tier1 - - 40 0 0.00 13 24 64.86 52 0 0.00 16 46 74.19 HECW1 0 genome.wustl.edu 37 7 43153832 43153832 + R SNP C C A TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 7 43153832 43153832 C A SNP HECW1 ENST00000492310 human ensembl 74_37 +1 known rna NULL NULL 0.166 - - - no_errors HECW1 HGNC ENSG00000002746 tier1 - - 35 0 0.00 7 19 73.08 90 0 0.00 20 47 69.12 NLRP14 0 genome.wustl.edu 37 11 7059832 7059832 + Silent SNP A A G TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 11 7059832 7059832 A G SNP NLRP14 ENST00000299481 human ensembl 74_37 +1 known silent c.15 p.S5 0.010 pfscan_DAPIN pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase,pfscan_DAPIN - no_errors NLRP14 HGNC ENSG00000158077 tier1 - - 56 0 0.00 12 21 63.64 87 0 0.00 43 75 63.56 TUB 0 genome.wustl.edu 37 11 8122074 8122074 + Missense_Mutation SNP G G A TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 11 8122074 8122074 G A SNP TUB ENST00000305253 human ensembl 74_37 +1 known missense c.1306 p.G436R 1.000 pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_N,prints_Tubby_C - no_errors TUB HGNC ENSG00000166402 tier1 - - 45 0 0.00 5 22 81.48 111 0 0.00 25 58 69.88 CDK12 0 genome.wustl.edu 37 17 37672033 37672033 + Missense_Mutation SNP C C G TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 17 37672033 37672033 C G SNP CDK12 ENST00000447079 human ensembl 74_37 +1 known missense c.2818 p.L940V 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 CDK12 HGNC ENSG00000167258 tier1 - - 46 0 0.00 24 9 27.27 92 0 0.00 69 57 44.88 TEX15 0 genome.wustl.edu 37 8 30701918 30701918 + Missense_Mutation SNP C C A TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 8 30701918 30701918 C A SNP TEX15 ENST00000256246 human ensembl 74_37 -1 known missense c.4616 p.R1539I 0.000 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 tier1 - - 84 0 0.00 22 35 61.40 100 0 0.00 40 64 60.95 HAUS3 0 genome.wustl.edu 37 4 2237996 2237996 + Missense_Mutation SNP T T C TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 4 2237996 2237996 T C SNP HAUS3 ENST00000243706 human ensembl 74_37 -1 known missense c.1537 p.T513A 0.698 NULL NULL - no_errors HAUS3 HGNC ENSG00000214367 tier1 - - 36 0 0.00 30 4 11.76 99 0 0.00 90 40 30.77 TTN 0 genome.wustl.edu 37 2 179560896 179560896 + Missense_Mutation SNP C C G TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 2 179560896 179560896 C G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.27171 p.E9057D 0.998 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 122 0 0.00 52 23 30.26 77 0 0.00 45 35 43.75 MTOR 0 genome.wustl.edu 37 1 11174523 11174523 + R SNP C C G TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 1 11174523 11174523 C G SNP MTOR ENST00000473471 human ensembl 74_37 -1 known rna NULL NULL 0.085 - - - no_errors MTOR HGNC ENSG00000198793 tier1 - - 44 0 0.00 15 4 21.05 60 0 0.00 54 18 25.00 AATF 0 genome.wustl.edu 37 17 35413995 35413995 + R SNP C C A TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 17 35413995 35413995 C A SNP AATF ENST00000587618 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors AATF HGNC ENSG00000108270 tier1 - - 40 0 0.00 17 6 26.09 27 0 0.00 41 13 24.07 PRELP 0 genome.wustl.edu 37 1 203455877 203455877 + Missense_Mutation SNP C C A TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 1 203455877 203455877 C A SNP PRELP ENST00000343110 human ensembl 74_37 +1 known missense c.1017 p.F339L 1.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors PRELP HGNC ENSG00000188783 tier1 - - 87 0 0.00 49 26 34.67 93 0 0.00 114 66 36.67 C4BPA 0 genome.wustl.edu 37 1 207300183 207300183 + Missense_Mutation SNP G G T TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 1 207300183 207300183 G T SNP C4BPA ENST00000367070 human ensembl 74_37 +1 known missense c.832 p.V278L 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 C4BPA HGNC ENSG00000123838 tier1 - - 38 0 0.00 20 12 37.50 81 0 0.00 88 34 27.87 CRYBG3 0 genome.wustl.edu 37 3 97596769 97596769 + Missense_Mutation SNP C C G TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 3 97596769 97596769 C G SNP CRYBG3 ENST00000182096 human ensembl 74_37 +1 known missense c.887 p.S296C 0.943 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 CRYBG3 HGNC ENSG00000080200 tier1 - - 52 0 0.00 39 8 17.02 68 0 0.00 38 16 29.63 SPECC1 0 genome.wustl.edu 37 17 20150563 20150563 + Missense_Mutation SNP G G C TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 17 20150563 20150563 G C SNP SPECC1 ENST00000261503 human ensembl 74_37 +1 known missense c.2529 p.K843N 0.976 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1 HGNC ENSG00000128487 tier1 - - 36 0 0.00 24 4 14.29 28 0 0.00 20 4 16.67 TBC1D3P1-DHX40P1 0 genome.wustl.edu 37 17 58094588 58094588 + R SNP T T G TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 17 58094588 58094588 T G SNP TBC1D3P1-DHX40P1 ENST00000407042 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors TBC1D3P1-DHX40P1 HGNC ENSG00000267104 tier1 - - 333 0 0.00 286 83 22.43 48 0 0.00 57 17 22.97 CNGB3 0 genome.wustl.edu 37 8 87616328 87616328 + Missense_Mutation SNP C C T TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 8 87616328 87616328 C T SNP CNGB3 ENST00000320005 human ensembl 74_37 -1 known missense c.1774 p.E592K 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB3 HGNC ENSG00000170289 tier1 - - 45 0 0.00 15 15 50.00 79 0 0.00 62 34 35.42 SPTBN1 0 genome.wustl.edu 37 2 54839385 54839385 + Missense_Mutation SNP C C G TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 2 54839385 54839385 C G SNP SPTBN1 ENST00000356805 human ensembl 74_37 +1 known missense c.388 p.L130V 1.000 pirsf_Spectrin_bsu,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain 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 tier1 - - 93 0 0.00 54 41 43.16 108 0 0.00 114 55 32.54 GALNT3 0 genome.wustl.edu 37 2 166605335 166605335 + Missense_Mutation SNP G G T TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 2 166605335 166605335 G T SNP GALNT3 ENST00000392701 human ensembl 74_37 -1 known missense c.1858 p.P620T 1.000 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT3 HGNC ENSG00000115339 tier1 - - 64 0 0.00 37 14 27.45 94 0 0.00 62 21 25.30 TTC6 0 genome.wustl.edu 37 14 38165968 38165968 + Missense_Mutation SNP G G A TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 14 38165968 38165968 G A SNP TTC6 ENST00000553443 human ensembl 74_37 +1 novel missense c.1304 p.R435Q 0.022 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC6 HGNC ENSG00000139865 tier1 - - 37 0 0.00 6 14 70.00 97 0 0.00 35 79 69.30 ROBO4 0 genome.wustl.edu 37 11 124766916 124766916 + Silent SNP G G A TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 11 124766916 124766916 G A SNP ROBO4 ENST00000306534 human ensembl 74_37 -1 known silent c.312 p.A104 0.376 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO4 HGNC ENSG00000154133 tier1 - - 76 0 0.00 42 32 43.24 15 0 0.00 11 4 26.67 SLCO1B1 0 genome.wustl.edu 37 12 21370181 21370181 + Silent SNP C C G TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 12 21370181 21370181 C G SNP SLCO1B1 ENST00000256958 human ensembl 74_37 +1 known silent c.1626 p.V542 0.001 pfam_OA_transporter,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 SLCO1B1 HGNC ENSG00000134538 tier1 - - 47 0 0.00 32 17 34.69 38 0 0.00 47 17 26.56 NRF1 0 genome.wustl.edu 37 7 129367102 129367102 + Silent SNP C C G TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 7 129367102 129367102 C G SNP NRF1 ENST00000393231 human ensembl 74_37 +1 known silent c.1245 p.V415 1.000 NULL pfam_Nrf1_NLS/D-bd_dimer,pfam_Nrf1_activation-bd - no_errors NRF1 HGNC ENSG00000106459 tier1 - - 76 0 0.00 46 10 17.86 22 0 0.00 15 2 11.76 GLRA1 0 genome.wustl.edu 37 5 151239459 151239459 + Silent SNP G G A TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 5 151239459 151239459 G A SNP GLRA1 ENST00000455880 human ensembl 74_37 -1 known silent c.363 p.I121 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Glycine_rcpt_A1,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA1 HGNC ENSG00000145888 tier1 - - 104 0 0.00 47 33 41.25 104 0 0.00 51 49 49.00 PLX2 0 genome.wustl.edu 37 1 208390563 208390563 + Silent SNP C C G TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 1 208390563 208390563 C G SNP PLX2 ENST00000367033 human ensembl 74_37 -1 known silent c.705 p.L235 0.993 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 PLX2 HGNC ENSG00000076356 tier1 - - 60 0 0.00 46 19 29.23 107 1 0.92 106 60 36.14 EIF2S2 0 genome.wustl.edu 37 20 32684518 32684518 + Missense_Mutation SNP C C T TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 20 32684518 32684518 C T SNP EIF2S2 ENST00000374980 human ensembl 74_37 -1 known missense c.628 p.V210I 1.000 pfam_Transl_init_fac_IF2/IF5,superfamily_Transl_init_fac_IF2/IF5_N,smart_Transl_init_fac_IF2/IF5 pfam_Transl_init_fac_IF2/IF5,superfamily_Transl_init_fac_IF2/IF5_N,superfamily_Transl_init_fac_IF2/IF5_Zn-bd,smart_Transl_init_fac_IF2/IF5 - no_errors EIF2S2 HGNC ENSG00000125977 tier1 - - 81 0 0.00 38 24 38.71 56 0 0.00 68 42 37.84 SLC27A5 0 genome.wustl.edu 37 19 59022824 59022824 + Missense_Mutation SNP C C T TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 19 59022824 59022824 C T SNP SLC27A5 ENST00000263093 human ensembl 74_37 -1 known missense c.499 p.A167T 0.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A5 HGNC ENSG00000083807 tier1 - - 58 0 0.00 41 7 14.58 11 0 0.00 11 3 21.43 HDHD3 0 genome.wustl.edu 37 9 116136322 116136322 + Missense_Mutation SNP A A C TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 9 116136322 116136322 A C SNP HDHD3 ENST00000238379 human ensembl 74_37 -1 known missense c.313 p.F105V 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA_REG-2-like pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_HAD-SF_hydro_IA,tigrfam_HAD-SF_hydro_IA_REG-2-like,tigrfam_HAD-SF_hydro_IA - no_errors HDHD3 HGNC ENSG00000119431 tier1 - - 28 0 0.00 14 7 33.33 34 0 0.00 13 2 13.33 ACY1 0 genome.wustl.edu 37 3 52019141 52019141 + R SNP T T C TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 3 52019141 52019141 T C SNP ACY1 ENST00000468068 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors ACY1 HGNC ENSG00000243989 tier1 - - 45 0 0.00 14 5 26.32 56 0 0.00 40 6 13.04 HTR3C 0 genome.wustl.edu 37 3 183776224 183776224 + Missense_Mutation SNP T T G TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 3 183776224 183776224 T G SNP HTR3C ENST00000318351 human ensembl 74_37 +1 known missense c.569 p.M190R 0.037 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel - no_errors HTR3C HGNC ENSG00000178084 tier1 - - 43 0 0.00 25 15 37.50 55 0 0.00 102 39 27.46 RPS23 0 genome.wustl.edu 37 5 81571946 81571946 + Missense_Mutation SNP C C G TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 5 81571946 81571946 C G SNP RPS23 ENST00000296674 human ensembl 74_37 -1 known missense c.414 p.K138N 1.000 pfam_Ribosomal_S12/S23,superfamily_-bd_OB-fold,pirsf_Ribosomal_S12/S23,tigrfam_Ribosomal_S23_euk/arc pfam_Ribosomal_S12/S23,superfamily_-bd_OB-fold,pirsf_Ribosomal_S12/S23,tigrfam_Ribosomal_S23_euk/arc - no_errors RPS23 HGNC ENSG00000186468 tier1 - - 31 0 0.00 29 10 25.64 38 0 0.00 40 17 29.82 FAT2 0 genome.wustl.edu 37 5 150922247 150922247 + Missense_Mutation SNP G G A TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 5 150922247 150922247 G A SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.8441 p.T2814I 0.976 pfam_Cadherin,superfamily_Cadherin-like,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 tier1 - - 38 0 0.00 17 9 34.62 52 0 0.00 40 16 28.57 ANKRD40 0 genome.wustl.edu 37 17 48773462 48773462 + Silent SNP G G A TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 17 48773462 48773462 G A SNP ANKRD40 ENST00000285243 human ensembl 74_37 -1 known silent c.1003 p.L335 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD40 HGNC ENSG00000154945 tier1 - - 68 0 0.00 56 17 23.29 87 0 0.00 111 21 15.91 POT1 0 genome.wustl.edu 37 7 124503553 124503553 + Missense_Mutation SNP C C T TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 7 124503553 124503553 C T SNP POT1 ENST00000357628 human ensembl 74_37 -1 known missense c.397 p.V133I 1.000 pfam_Telomer_end-bd_POT1/Cdc13,superfamily_-bd_OB-fold,smart_Telomer_end-bd_POT1/Cdc13 pfam_Telomer_end-bd_POT1/Cdc13,superfamily_-bd_OB-fold,smart_Telomer_end-bd_POT1/Cdc13 - no_errors POT1 HGNC ENSG00000128513 tier1 - - 51 0 0.00 32 19 37.25 84 1 1.18 65 64 49.61 SNHG11 0 genome.wustl.edu 37 20 37075523 37075523 + R SNP G G T TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 20 37075523 37075523 G T SNP SNHG11 ENST00000359074 human ensembl 74_37 +1 known rna NULL NULL 0.149 - - - no_errors SNHG11 HGNC ENSG00000174365 tier1 - - 75 0 0.00 45 34 43.04 45 0 0.00 29 13 30.95 ENSG00000261546 0 genome.wustl.edu 37 16 89181109 89181109 + R SNP G G A TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 16 89181109 89181109 G A SNP ENSG00000261546 ENST00000562782 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2555A7.3 Clone_based_vega_gene ENSG00000261546 tier1 - - 10 0 0.00 3 11 78.57 81 0 0.00 24 62 72.09 TRIO 0 genome.wustl.edu 37 5 14405992 14405992 + Silent SNP G G A TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 5 14405992 14405992 G A SNP TRIO ENST00000344204 human ensembl 74_37 +1 known silent c.4752 p.K1584 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology 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_ssD_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 tier1 - - 27 0 0.00 16 5 23.81 76 0 0.00 66 38 36.54 ADAMTS12 0 genome.wustl.edu 37 5 33614360 33614360 + Frame_Shift_Del DEL C C - TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 5 33614360 33614360 C - DEL ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known frame_shift_del c.2510 p.S837fs 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,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 tier1 62 0 0.00 40 4 9.09 60 0 0.00 71 9 11.25 FIGLA 0 genome.wustl.edu 37 2 71012615 71012634 + Frame_Shift_Del DEL CACCACTGCCACCATCTGCC CACCACTGCCACCATCTGCC - TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 CACCACTGCCACCATCTGCC CACCACTGCCACCATCTGCC CACCACTGCCACCATCTGCC - CACCACTGCCACCATCTGCC CACCACTGCCACCATCTGCC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 2 71012615 71012634 CACCACTGCCACCATCTGCC - DEL FIGLA ENST00000332372 human ensembl 74_37 -1 known frame_shift_del c.541_522 p.W174fs 0.953:0.953:0.995:0.997:0.997:0.998:0.999:1.000:1.000:0.998:0.961:0.960:0.964:0.956:0.996:0.999:1.000:1.000:1.000:1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors FIGLA HGNC ENSG00000183733 tier1 58 0 0.00 19 7 26.92 58 0 0.00 19 7 26.92 ALK 0 genome.wustl.edu 37 2 30143133 30143133 + Silent SNP G G A TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 2 30143133 30143133 G A SNP ALK ENST00000389048 human ensembl 74_37 -1 known silent c.393 p.S131 0.851 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ALK HGNC ENSG00000171094 tier1 - - 29 0 0.00 13 13 50.00 14 0 0.00 8 11 57.89 CEACAM16 0 genome.wustl.edu 37 19 45208935 45208935 + Missense_Mutation SNP C C T TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 19 45208935 45208935 C T SNP CEACAM16 ENST00000405314 human ensembl 74_37 +1 known missense c.737 p.T246M 0.026 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM16 HGNC ENSG00000213892 tier1 - - 93 0 0.00 10 14 58.33 65 0 0.00 5 34 87.18 GRI 0 genome.wustl.edu 37 8 145065511 145065511 + Silent SNP C C A TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 8 145065511 145065511 C A SNP GRI ENST00000313269 human ensembl 74_37 +1 known silent c.120 p.A40 0.238 NULL pfam_Bax_inhibitor_1-related - no_errors GRI HGNC ENSG00000178719 tier1 - - 17 0 0.00 4 11 73.33 48 0 0.00 7 18 72.00 KRT14 0 genome.wustl.edu 37 17 39742691 39742691 + Missense_Mutation SNP C C A TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 17 39742691 39742691 C A SNP KRT14 ENST00000167586 human ensembl 74_37 -1 known missense c.396 p.K132N 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT14 HGNC ENSG00000186847 tier1 - - 199 0 0.00 49 65 57.02 15 0 0.00 5 6 54.55 LOC440416 0 genome.wustl.edu 37 17 20805851 20805851 + R SNP A A T TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 17 20805851 20805851 A T SNP LOC440416 ENST00000577537 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-344E13.3 Clone_based_vega_gene ENSG00000233098 tier1 - - 139 0 0.00 31 36 53.73 61 0 0.00 7 54 88.52 MAGEB6 0 genome.wustl.edu 37 X 26211982 26211982 + Missense_Mutation SNP A A G TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e X 26211982 26211982 A G SNP MAGEB6 ENST00000379034 human ensembl 74_37 +1 known missense c.19 p.S7G 0.006 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB6 HGNC ENSG00000176746 tier1 - - 57 0 0.00 11 28 71.79 56 0 0.00 9 19 67.86 XYLB 0 genome.wustl.edu 37 3 38411731 38411732 + R INS - - CACACACACACA TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 - - - CACACACACACA - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 3 38411731 38411732 - CACACACACACA INS XYLB ENST00000487569 human ensembl 74_37 +1 putative rna NULL NULL 0.000:0.000 - - - no_errors XYLB HGNC ENSG00000093217 tier1 13 0 0.00 8 2 20.00 13 0 0.00 8 2 20.00 DPYSL5 0 genome.wustl.edu 37 2 27121590 27121590 + Missense_Mutation SNP A A T TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 2 27121590 27121590 A T SNP DPYSL5 ENST00000288699 human ensembl 74_37 +1 known missense c.223 p.N75Y 1.000 pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL5 HGNC ENSG00000157851 tier1 - - 60 0 0.00 36 6 14.29 98 0 0.00 73 7 8.75 STARD9 0 genome.wustl.edu 37 15 42956067 42956067 + Silent SNP A A G TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 15 42956067 42956067 A G SNP STARD9 ENST00000290607 human ensembl 74_37 +1 known silent c.1128 p.R376 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_START_lipid-bd_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors STARD9 HGNC ENSG00000159433 tier1 - - 32 0 0.00 14 4 22.22 60 0 0.00 68 4 5.48 PRRC2B 0 genome.wustl.edu 37 9 134351084 134351084 + Missense_Mutation SNP G G C TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 9 134351084 134351084 G C SNP PRRC2B ENST00000357304 human ensembl 74_37 +1 known missense c.3568 p.G1190R 0.000 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 tier1 - - 47 0 0.00 40 4 8.89 45 0 0.00 47 4 7.84 COPS2 0 genome.wustl.edu 37 15 49431771 49431771 + Missense_Mutation SNP T T G TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 15 49431771 49431771 T G SNP COPS2 ENST00000299259 human ensembl 74_37 -1 known missense c.326 p.E109A 1.000 NULL pfam_PCI_dom,smart_PAM,smart_PCI_dom - no_errors COPS2 HGNC ENSG00000166200 tier1 - - 53 0 0.00 22 4 15.38 69 0 0.00 47 4 7.84 AMICA1 0 genome.wustl.edu 37 11 118074177 118074215 + In_Frame_Del DEL GGTTTTCTTGAACACCAGGTTCCCTAGGTGGATACTGCA GGTTTTCTTGAACACCAGGTTCCCTAGGTGGATACTGCA - TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 GGTTTTCTTGAACACCAGGTTCCCTAGGTGGATACTGCA GGTTTTCTTGAACACCAGGTTCCCTAGGTGGATACTGCA GGTTTTCTTGAACACCAGGTTCCCTAGGTGGATACTGCA - GGTTTTCTTGAACACCAGGTTCCCTAGGTGGATACTGCA GGTTTTCTTGAACACCAGGTTCCCTAGGTGGATACTGCA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 11 118074177 118074215 GGTTTTCTTGAACACCAGGTTCCCTAGGTGGATACTGCA - DEL AMICA1 ENST00000356289 human ensembl 74_37 -1 known in_frame_del c.738_700 p.CSIHLGNLVFKKT234in_frame_del 0.000:0.148:0.213:0.220:0.822:0.850:0.832:0.031:0.020:0.002:0.004:0.002:0.001:0.001:0.005:0.020:0.027:0.031:0.031:0.002:0.006:0.043:0.668:0.911:0.949:0.949:0.940:0.912:0.827:0.679:0.696:0.675:0.234:0.055:0.059:0.084:0.850:1.000:1.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors AMICA1 HGNC ENSG00000160593 tier1 76 0 0.00 82 7 7.87 76 0 0.00 82 7 7.87 ENSG00000226668 0 genome.wustl.edu 37 9 95646683 95646683 + R SNP T T G TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 9 95646683 95646683 T G SNP ENSG00000226668 ENST00000446878 human ensembl 74_37 +1 putative rna NULL NULL 0.008 - - - no_errors RP11-526D8.7 Clone_based_vega_gene ENSG00000226668 tier1 - - 144 0 0.00 75 24 24.24 8 0 0.00 2 1 33.33 PLXNB1 0 genome.wustl.edu 37 3 48461323 48461323 + Missense_Mutation SNP G G A TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 3 48461323 48461323 G A SNP PLXNB1 ENST00000296440 human ensembl 74_37 -1 known missense c.2372 p.P791L 0.000 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB1 HGNC ENSG00000164050 tier1 - - 29 0 0.00 19 5 20.83 7 0 0.00 3 0 0.00 USP32P1 0 genome.wustl.edu 37 17 16706252 16706252 + R SNP G G A TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 17 16706252 16706252 G A SNP USP32P1 ENST00000341745 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors USP32P1 HGNC ENSG00000188933 tier1 rs200099225 - 57 0 0.00 32 5 13.51 24 0 0.00 8 0 0.00 GOLGA8DP 0 genome.wustl.edu 37 15 22709060 22709060 + R SNP C C G TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 15 22709060 22709060 C G SNP GOLGA8DP ENST00000314246 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors GOLGA8DP HGNC ENSG00000185182 tier1 - - 16 0 0.00 14 10 41.67 0 0 0.00 0 0 0.00 KANK3 0 genome.wustl.edu 37 19 8388400 8388401 + Frame_Shift_Ins INS - - GATT TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 19 8388400 8388401 - GATT INS KANK3 ENST00000593649 human ensembl 74_37 -1 known frame_shift_ins c.2405_2404 p.L802fs 0.049:0.050 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors KANK3 HGNC ENSG00000186994 tier1 19 0 0.00 4 7 63.64 0 0 0.00 0 0 0.00 LOC100133091 0 genome.wustl.edu 37 7 76256104 76256105 + R INS - - GGAGGGCGGTGT TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 7 76256104 76256105 - GGAGGGCGGTGT INS LOC100133091 ENST00000418663 human ensembl 74_37 +1 known rna NULL NULL 0.012:0.012 - - - no_errors AC004980.7 Clone_based_vega_gene ENSG00000205485 tier1 3 0 0.00 3 0 0.00 3 0 0.00 3 0 0.00 SSC5D 0 genome.wustl.edu 37 19 56028663 56028663 + Missense_Mutation SNP C C T TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 19 56028663 56028663 C T SNP SSC5D ENST00000389623 human ensembl 74_37 +1 known missense c.3020 p.P1007L 0.001 NULL pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors SSC5D HGNC ENSG00000179954 tier1 - - 21 0 0.00 23 12 34.29 3 0 0.00 5 5 50.00 FRMPD1 0 genome.wustl.edu 37 9 37731073 37731090 + In_Frame_Del DEL CGTGGCCTTTGAATACCT CGTGGCCTTTGAATACCT - TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 CGTGGCCTTTGAATACCT CGTGGCCTTTGAATACCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq acb9a894-a6b5-455d-9398-9b571e32f7f9 83917cee-8439-465e-a985-a291e4d88f3e 9 37731073 37731090 CGTGGCCTTTGAATACCT - DEL FRMPD1 ENST00000377765 human ensembl 74_37 +1 known in_frame_del c.831_848 p.VAFEYL278in_frame_del 0.017:0.990:0.998:0.994:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.985:1.000:1.000:0.998:1.000:1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain 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 tier1 68 0 0.00 61 2 3.17 68 0 0.00 61 2 3.17