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 COL11A1 0 genome.wustl.edu 37 1 103444943 103444943 + Missense_Mutation SNP C C A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 1 103444943 103444943 C A SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.2641 p.A881S 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 47 0 0 13 3 18.75 NTNG1 0 genome.wustl.edu 37 1 107691253 107691253 + Nonsense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 1 107691253 107691253 G A SNP NTNG1 ENST00000370068 human ensembl 74_37 +1 known nonsense c.38 p.W13* 1.000 NULL pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG1 HGNC ENSG00000162631 141 0 0 81 32 28.3186 FAM63A 0 genome.wustl.edu 37 1 150974704 150974704 + Silent SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 1 150974704 150974704 G A SNP FAM63A ENST00000361738 human ensembl 74_37 -1 known silent c.534 p.T178 0.991 NULL pfam_DUF544 - no_errors FAM63A HGNC ENSG00000143409 216 0 0 139 98 41.3502 FLG 0 genome.wustl.edu 37 1 152277360 152277360 + Silent SNP C C A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 1 152277360 152277360 C A SNP FLG ENST00000368799 human ensembl 74_37 -1 known silent c.10002 p.G3334 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 670 0 0 1040 243 18.94 FLG 0 genome.wustl.edu 37 1 152277694 152277694 + Missense_Mutation SNP C C A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 1 152277694 152277694 C A SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.9668 p.G3223V 0.001 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 211 0 0 379 111 22.6531 NES 0 genome.wustl.edu 37 1 156640628 156640628 + Missense_Mutation SNP C C G TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 1 156640628 156640628 C G SNP NES ENST00000368223 human ensembl 74_37 -1 known missense c.3352 p.E1118Q 0.001 NULL pfam_IF - no_errors NES HGNC ENSG00000132688 68 0 0 96 27 21.9512 ARHGEF19 0 genome.wustl.edu 37 1 16531296 16531296 + Missense_Mutation SNP A A C TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 1 16531296 16531296 A C SNP ARHGEF19 ENST00000270747 human ensembl 74_37 -1 known missense c.1865 p.L622R 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF19 HGNC ENSG00000142632 43 0 0 19 9 32.1429 NBPF1 0 genome.wustl.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 1 16918653 16918653 C T SNP NBPF1 ENST00000392963 human ensembl 74_37 -1 known splice_site c.1+1 e0+1 0.202 - - - no_errors NBPF1 HGNC ENSG00000219481 22 0 0 65 5 7.14286 CROCCP2 0 genome.wustl.edu 37 1 16946438 16946438 + RNA SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 1 16946438 16946438 G A SNP CROCCP2 ENST00000412962 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CROCCP2 HGNC ENSG00000215908 19 0 0 16 3 15.7895 CROCCP2 0 genome.wustl.edu 37 1 16959814 16959814 + RNA SNP C C T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 1 16959814 16959814 C T SNP CROCCP2 ENST00000412962 human ensembl 74_37 -1 known rna NULL NULL 0.996 - - - no_errors CROCCP2 HGNC ENSG00000215908 9 0 0 13 6 31.5789 ZNF648 0 genome.wustl.edu 37 1 182026767 182026767 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 1 182026767 182026767 G A SNP ZNF648 ENST00000339948 human ensembl 74_37 -1 novel missense c.379 p.P127S 0.005 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF648 HGNC ENSG00000179930 99 0 0 144 34 19.1011 CFH 0 genome.wustl.edu 37 1 196695763 196695763 + Silent SNP A A C TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 1 196695763 196695763 A C SNP CFH ENST00000367429 human ensembl 74_37 +1 known silent c.2037 p.T679 0.751 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 CFH HGNC ENSG00000000971 99 0 0 32 6 15.7895 HSD11B1 0 genome.wustl.edu 37 1 209880290 209880290 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 1 209880290 209880290 G A SNP HSD11B1 ENST00000261465 human ensembl 74_37 +1 known missense c.334 p.G112R 0.954 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH - no_errors HSD11B1 HGNC ENSG00000117594 174 0 0 104 32 23.5294 OR2M2 0 genome.wustl.edu 37 1 248343547 248343547 + Missense_Mutation SNP C C G TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 1 248343547 248343547 C G SNP OR2M2 ENST00000359682 human ensembl 74_37 +1 known missense c.260 p.S87C 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M2 HGNC ENSG00000198601 322 0 0 275 92 25.0681 CSMD2 0 genome.wustl.edu 37 1 34128512 34128512 + Silent SNP C C T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 1 34128512 34128512 C T SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known silent c.4233 p.Q1411 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 177 0 0 186 51 21.519 AGBL4 0 genome.wustl.edu 37 1 49056558 49056558 + Missense_Mutation SNP T T C TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 1 49056558 49056558 T C SNP AGBL4 ENST00000371839 human ensembl 74_37 -1 known missense c.1051 p.R351G 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,smart_Peptidase_M14 - no_errors AGBL4 HGNC ENSG00000186094 17 0 0 15 3 16.6667 SLC2A5 0 genome.wustl.edu 37 1 9117573 9117573 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 1 9117573 9117573 G A SNP SLC2A5 ENST00000377424 human ensembl 74_37 -1 known missense c.227 p.S76F 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Fru_transpt_5,tigrfam_Sugar/inositol_transpt - no_errors SLC2A5 HGNC ENSG00000142583 68 0 0 24 12 33.3333 DHX32 0 genome.wustl.edu 37 10 127525345 127525345 + Missense_Mutation SNP C C T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 10 127525345 127525345 C T SNP DHX32 ENST00000284690 human ensembl 74_37 -1 known missense c.2143 p.D715N 0.011 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd - no_errors DHX32 HGNC ENSG00000089876 59 0 0 44 16 26.6667 INPP5A 0 genome.wustl.edu 37 10 134459401 134459401 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 10 134459401 134459401 G A SNP INPP5A ENST00000368594 human ensembl 74_37 +1 known missense c.147 p.M49I 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5A HGNC ENSG00000068383 48 0 0 27 10 27.027 ARHGAP22 0 genome.wustl.edu 37 10 49654578 49654578 + Missense_Mutation SNP C C T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 10 49654578 49654578 C T SNP ARHGAP22 ENST00000417912 human ensembl 74_37 -1 known missense c.2001 p.M667I 1.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP22 HGNC ENSG00000128805 86 0 0 83 27 24.5455 PSMA1 0 genome.wustl.edu 37 11 14632570 14632570 + RNA SNP A A C TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 11 14632570 14632570 A C SNP PSMA1 ENST00000528018 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors PSMA1 HGNC ENSG00000129084 39 0 0 20 3 13.0435 NELL1 0 genome.wustl.edu 37 11 21135238 21135238 + Silent SNP T T C TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 11 21135238 21135238 T C SNP NELL1 ENST00000357134 human ensembl 74_37 +1 known silent c.1404 p.R468 0.759 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL1 HGNC ENSG00000165973 119 0 0 47 10 17.5439 OR52B4 0 genome.wustl.edu 37 11 4389175 4389175 + Missense_Mutation SNP C C A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 11 4389175 4389175 C A SNP OR52B4 ENST00000408920 human ensembl 74_37 -1 known missense c.351 p.L117F 0.686 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52B4 HGNC ENSG00000221996 43 0 0 25 12 32.4324 OR4A15 0 genome.wustl.edu 37 11 55135685 55135685 + Missense_Mutation SNP T T A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 11 55135685 55135685 T A SNP OR4A15 ENST00000314706 human ensembl 74_37 +1 known missense c.326 p.M109K 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A15 HGNC ENSG00000181958 133 0 0 106 25 19.084 RPLP0P2 0 genome.wustl.edu 37 11 61404639 61404639 + RNA SNP C C T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 11 61404639 61404639 C T SNP RPLP0P2 ENST00000496593 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RPLP0P2 HGNC ENSG00000243742 31 0 0 82 21 20.3883 SUV420H1 0 genome.wustl.edu 37 11 67926371 67926371 + Missense_Mutation SNP T T C TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 11 67926371 67926371 T C SNP SUV420H1 ENST00000304363 human ensembl 74_37 -1 known missense c.1442 p.K481R 1.000 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SUV420H1 HGNC ENSG00000110066 61 0 0 113 35 23.6486 KLRC3 0 genome.wustl.edu 37 12 10569320 10569320 + Missense_Mutation SNP C C T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 12 10569320 10569320 C T SNP KLRC3 ENST00000381903 human ensembl 74_37 -1 known missense c.533 p.R178H 0.002 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRC3 HGNC ENSG00000205810 61 0 0 22 6 21.4286 SBNO1 0 genome.wustl.edu 37 12 123825559 123825559 + Silent SNP C C T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 12 123825559 123825559 C T SNP SBNO1 ENST00000420886 human ensembl 74_37 -1 known silent c.627 p.K209 0.998 NULL pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Prismane-like - no_errors SBNO1 HGNC ENSG00000139697 36 0 0 22 2 8.33333 CHFR 0 genome.wustl.edu 37 12 133448742 133448742 + RNA SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 12 133448742 133448742 G A SNP CHFR ENST00000536196 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CHFR HGNC ENSG00000072609 14 0 0 14 8 36.3636 SLCO1B7 0 genome.wustl.edu 37 12 21205043 21205043 + Nonsense_Mutation SNP A A T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 12 21205043 21205043 A T SNP SLCO1B7 ENST00000554957 human ensembl 74_37 +1 known nonsense c.1345 p.R449* 0.000 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 SLCO1B7 HGNC ENSG00000205754 30 0 0 35 12 25.5319 ABCC9 0 genome.wustl.edu 37 12 22061124 22061124 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 12 22061124 22061124 G A SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known missense c.1342 p.L448F 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 40 0 0 25 9 26.4706 ITPR2 0 genome.wustl.edu 37 12 26732987 26732987 + Silent SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 12 26732987 26732987 G A SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known silent c.4482 p.P1494 0.003 superfamily_ARM-type_fold pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 48 0 0 31 3 8.82353 CLSTN3 0 genome.wustl.edu 37 12 7293961 7293961 + Nonsense_Mutation SNP C C T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 12 7293961 7293961 C T SNP CLSTN3 ENST00000266546 human ensembl 74_37 +1 known nonsense c.1447 p.R483* 1.000 superfamily_ConA-like_lec_gl_sf pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN3 HGNC ENSG00000139182 243 0 0 248 71 22.2571 CSRP2 0 genome.wustl.edu 37 12 77254166 77254166 + Silent SNP A A G TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 12 77254166 77254166 A G SNP CSRP2 ENST00000311083 human ensembl 74_37 -1 known silent c.309 p.N103 0.994 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors CSRP2 HGNC ENSG00000175183 80 0 0 66 13 16.4557 HAL 0 genome.wustl.edu 37 12 96387251 96387251 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 12 96387251 96387251 G A SNP HAL ENST00000544080 human ensembl 74_37 -1 known missense c.500 p.T167I 1.000 NULL pfam_Aromatic_Lyase,superfamily_L-Aspartase-like - no_errors HAL HGNC ENSG00000084110 67 0 0 31 13 29.5455 MIR323A 0 genome.wustl.edu 37 14 101492097 101492097 + RNA SNP C C T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 14 101492097 101492097 C T SNP MIR323A ENST00000362199 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR323A HGNC ENSG00000199069 159 0 0 121 38 23.8994 OR10G2 0 genome.wustl.edu 37 14 22102592 22102592 + Missense_Mutation SNP T T C TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 14 22102592 22102592 T C SNP OR10G2 ENST00000542433 human ensembl 74_37 -1 known missense c.407 p.H136R 0.996 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G2 HGNC ENSG00000255582 21 0 0 40 6 13.0435 CPNE6 0 genome.wustl.edu 37 14 24542739 24542739 + Missense_Mutation SNP C C T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 14 24542739 24542739 C T SNP CPNE6 ENST00000537691 human ensembl 74_37 +1 known missense c.365 p.S122F 0.976 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE6 HGNC ENSG00000100884 151 0 0 134 46 25.5556 RTN1 0 genome.wustl.edu 37 14 60097257 60097257 + RNA SNP C C A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 14 60097257 60097257 C A SNP RTN1 ENST00000557422 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RTN1 HGNC ENSG00000139970 132 0 0 382 59 13.3787 ADAMTS17 0 genome.wustl.edu 37 15 100801697 100801697 + Missense_Mutation SNP C C T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 15 100801697 100801697 C T SNP ADAMTS17 ENST00000268070 human ensembl 74_37 -1 known missense c.1018 p.V340M 1.000 pfscan_Peptidase_M12B pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS17 HGNC ENSG00000140470 72 0 0 79 19 19.3878 CERS3 0 genome.wustl.edu 37 15 100942884 100942884 + RNA SNP C C G TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 15 100942884 100942884 C G SNP CERS3 ENST00000560944 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors CERS3 HGNC ENSG00000154227 32 0 0 33 11 25 GOLGA8EP 0 genome.wustl.edu 37 15 23444075 23444075 + RNA SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 15 23444075 23444075 G A SNP GOLGA8EP ENST00000526079 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors GOLGA8EP HGNC ENSG00000175676 25 0 0 21 8 27.5862 HERC2 0 genome.wustl.edu 37 15 28459349 28459349 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 15 28459349 28459349 G A SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.6428 p.A2143V 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 95 0 0 52 28 35 AP3B2 0 genome.wustl.edu 37 15 83345298 83345298 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 15 83345298 83345298 G A SNP AP3B2 ENST00000261722 human ensembl 74_37 -1 known missense c.1580 p.A527V 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta - no_errors AP3B2 HGNC ENSG00000103723 69 0 0 51 16 23.8806 ZNF768 0 genome.wustl.edu 37 16 30537361 30537361 + Missense_Mutation SNP C C G TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 16 30537361 30537361 C G SNP ZNF768 ENST00000380412 human ensembl 74_37 -1 known missense c.100 p.E34Q 0.983 NULL pfam_Znf_C2H2,pfam_RNA_pol_II_repeat_euk,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF768 HGNC ENSG00000169957 157 0 0 100 39 28.0576 GLYR1 0 genome.wustl.edu 37 16 4882012 4882012 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 16 4882012 4882012 G A SNP GLYR1 ENST00000321919 human ensembl 74_37 -1 known missense c.505 p.R169W 1.000 NULL pfam_6PGDH_NADP-bd,pfam_PWWP_dom,superfamily_6-PGluconate_DH_C-like,smart_PWWP_dom,pfscan_PWWP_dom - no_errors GLYR1 HGNC ENSG00000140632 59 0 0 41 26 38.806 SNORD3B-2 0 genome.wustl.edu 37 17 18967152 18967152 + RNA SNP C C T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 17 18967152 18967152 C T SNP SNORD3B-2 ENST00000571722 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SNORD3B-2 HGNC ENSG00000262074 44 0 0 56 10 15.1515 ANKRD13B 0 genome.wustl.edu 37 17 27936185 27936185 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 17 27936185 27936185 G A SNP ANKRD13B ENST00000394859 human ensembl 74_37 +1 known missense c.647 p.R216Q 0.929 pfam_ANKRD13 pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif - no_errors ANKRD13B HGNC ENSG00000198720 61 0 0 61 25 29.0698 CLTC 0 genome.wustl.edu 37 17 57744325 57744325 + Missense_Mutation SNP C C G TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 17 57744325 57744325 C G SNP CLTC ENST00000269122 human ensembl 74_37 +1 known missense c.2115 p.F705L 1.000 pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTC HGNC ENSG00000141367 31 0 0 26 10 27.7778 INO80C 0 genome.wustl.edu 37 18 33077741 33077741 + Missense_Mutation SNP C C T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 18 33077741 33077741 C T SNP INO80C ENST00000441607 human ensembl 74_37 -1 known missense c.98 p.S33N 0.985 NULL pfam_YL1_C - no_errors INO80C HGNC ENSG00000153391 27 0 0 63 12 16 SMAD2 0 genome.wustl.edu 37 18 45371695 45371695 + Silent SNP A A G TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 18 45371695 45371695 A G SNP SMAD2 ENST00000591214 human ensembl 74_37 -1 known silent c.1206 p.I402 0.670 superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD2 HGNC ENSG00000175387 133 0 0 68 5 6.84932 IFNL3 0 genome.wustl.edu 37 19 39735106 39735106 + Missense_Mutation SNP T T C TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 19 39735106 39735106 T C SNP IFNL3 ENST00000413851 human ensembl 74_37 -1 known missense c.209 p.K70R 0.000 NULL NULL - no_errors IFNL3 HGNC ENSG00000197110 37 0 0 33 17 34 FCGBP 0 genome.wustl.edu 37 19 40405997 40405997 + Missense_Mutation SNP T T C TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 19 40405997 40405997 T C SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.4849 p.M1617V 0.000 smart_VWC_out,smart_VWF_C pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 12 0 0 37 5 11.9048 FCGBP 0 genome.wustl.edu 37 19 40405999 40405999 + Missense_Mutation SNP C C A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 19 40405999 40405999 C A SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.4847 p.G1616V 0.001 smart_VWC_out,smart_VWF_C pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 11 0 0 36 5 12.1951 GRIK5 0 genome.wustl.edu 37 19 42546812 42546812 + Silent SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 19 42546812 42546812 G A SNP GRIK5 ENST00000301218 human ensembl 74_37 -1 known silent c.1365 p.A455 0.037 pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK5 HGNC ENSG00000105737 46 0 0 134 30 18.2927 MADCAM1 0 genome.wustl.edu 37 19 501786 501786 + Missense_Mutation SNP C C A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 19 501786 501786 C A SNP MADCAM1 ENST00000215637 human ensembl 74_37 +1 known missense c.785 p.P262Q 0.000 NULL pfam_Adhes-Ig-like,smart_Ig_sub,pfscan_Ig-like_dom - no_errors MADCAM1 HGNC ENSG00000099866 11 0 0 22 7 24.1379 TUBB4A 0 genome.wustl.edu 37 19 6495529 6495529 + Silent SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 19 6495529 6495529 G A SNP TUBB4A ENST00000264071 human ensembl 74_37 -1 known silent c.981 p.D327 0.998 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Alpha_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin - no_errors TUBB4A HGNC ENSG00000104833 177 0 0 164 232 58.5859 PXDN 0 genome.wustl.edu 37 2 1647316 1647316 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 2 1647316 1647316 G A SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.3776 p.P1259L 0.999 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 88 0 0 89 22 19.8198 ITGA4 0 genome.wustl.edu 37 2 182322539 182322539 + Missense_Mutation SNP G G T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 2 182322539 182322539 G T SNP ITGA4 ENST00000397033 human ensembl 74_37 +1 known missense c.158 p.G53V 1.000 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA4 HGNC ENSG00000115232 34 0 0 22 12 35.2941 ZNF804A 0 genome.wustl.edu 37 2 185801754 185801754 + Missense_Mutation SNP C C A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 2 185801754 185801754 C A SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known missense c.1631 p.T544K 0.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 34 0 0 26 6 18.75 ZNF804A 0 genome.wustl.edu 37 2 185801757 185801757 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 2 185801757 185801757 G A SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known missense c.1634 p.G545D 0.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 36 0 0 25 6 19.3548 ICA1L 0 genome.wustl.edu 37 2 203693599 203693599 + Missense_Mutation SNP G G C TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 2 203693599 203693599 G C SNP ICA1L ENST00000358299 human ensembl 74_37 -1 known missense c.134 p.S45C 1.000 pfam_AH_dom,pfscan_AH_dom pfam_Islet_autoAg_Ica1_C,pfam_AH_dom,pfscan_AH_dom - no_errors ICA1L HGNC ENSG00000163596 127 0 0 49 27 35.5263 ALPPL2 0 genome.wustl.edu 37 2 233274532 233274532 + Missense_Mutation SNP C C A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 2 233274532 233274532 C A SNP ALPPL2 ENST00000295453 human ensembl 74_37 +1 known missense c.1549 p.P517T 0.000 NULL pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPPL2 HGNC ENSG00000163286 22 0 0 27 17 38.6364 ALPI 0 genome.wustl.edu 37 2 233323432 233323432 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 2 233323432 233323432 G A SNP ALPI ENST00000295463 human ensembl 74_37 +1 known missense c.1274 p.R425Q 0.026 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPI HGNC ENSG00000163295 59 0 0 39 43 52.439 PRR21 0 genome.wustl.edu 37 2 240982248 240982248 + Missense_Mutation SNP T T C TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 2 240982248 240982248 T C SNP PRR21 ENST00000408934 human ensembl 74_37 -1 known missense c.152 p.H51R 0.025 NULL NULL - no_errors PRR21 HGNC ENSG00000221961 19 0 0 34 6 15 THADA 0 genome.wustl.edu 37 2 43732809 43732809 + Silent SNP T T C TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 2 43732809 43732809 T C SNP THADA ENST00000405006 human ensembl 74_37 -1 known silent c.3573 p.L1191 1.000 pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold - no_errors THADA HGNC ENSG00000115970 9 0 0 3 3 50 LRRTM1 0 genome.wustl.edu 37 2 80529981 80529981 + Missense_Mutation SNP C C T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 2 80529981 80529981 C T SNP LRRTM1 ENST00000295057 human ensembl 74_37 -1 known missense c.964 p.V322M 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC ENSG00000162951 34 0 0 46 12 20.6897 KIDINS220 0 genome.wustl.edu 37 2 8873723 8873723 + Missense_Mutation SNP C C T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 2 8873723 8873723 C T SNP KIDINS220 ENST00000256707 human ensembl 74_37 -1 known missense c.3904 p.G1302S 0.002 NULL pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 83 0 0 106 43 28.8591 R3HDML 0 genome.wustl.edu 37 20 42979392 42979392 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 20 42979392 42979392 G A SNP R3HDML ENST00000217043 human ensembl 74_37 +1 known missense c.722 p.C241Y 1.000 NULL pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors R3HDML HGNC ENSG00000101074 132 0 0 110 16 12.6984 MTG2 0 genome.wustl.edu 37 20 60770905 60770905 + Silent SNP C C T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 20 60770905 60770905 C T SNP MTG2 ENST00000370823 human ensembl 74_37 +1 known silent c.252 p.N84 0.000 pfam_GTP1_OBG_dom,superfamily_GTP1_OBG_dom,pirsf_GTP-bd_Obg/CgtA,tigrfam_GTP-bd_Obg/CgtA pfam_GTP1_OBG_dom,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GTP1_OBG_dom,pirsf_GTP-bd_Obg/CgtA,prints_GTP_binding_domain,tigrfam_GTP-bd_Obg/CgtA,tigrfam_Small_GTP-bd_dom - no_errors MTG2 HGNC ENSG00000101181 67 0 0 80 21 20.7921 MTG2 0 genome.wustl.edu 37 20 60773769 60773769 + Missense_Mutation SNP C C T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 20 60773769 60773769 C T SNP MTG2 ENST00000370823 human ensembl 74_37 +1 known missense c.548 p.A183V 0.943 pfam_GTP1_OBG_dom,superfamily_GTP1_OBG_dom,pirsf_GTP-bd_Obg/CgtA,tigrfam_GTP-bd_Obg/CgtA pfam_GTP1_OBG_dom,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GTP1_OBG_dom,pirsf_GTP-bd_Obg/CgtA,prints_GTP_binding_domain,tigrfam_GTP-bd_Obg/CgtA,tigrfam_Small_GTP-bd_dom - no_errors MTG2 HGNC ENSG00000101181 55 0 0 113 10 8.13008 SIK1 0 genome.wustl.edu 37 21 44845330 44845330 + Missense_Mutation SNP A A G TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 21 44845330 44845330 A G SNP SIK1 ENST00000270162 human ensembl 74_37 -1 known missense c.230 p.L77P 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,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,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK1 HGNC ENSG00000142178 38 0 0 4 8 66.6667 HPS4 0 genome.wustl.edu 37 22 26868841 26868841 + Missense_Mutation SNP C C A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 22 26868841 26868841 C A SNP HPS4 ENST00000398141 human ensembl 74_37 -1 known missense c.326 p.G109V 0.987 NULL NULL - no_errors HPS4 HGNC ENSG00000100099 136 0 0 49 29 37.1795 BRD1 0 genome.wustl.edu 37 22 50216631 50216631 + Silent SNP C C T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 22 50216631 50216631 C T SNP BRD1 ENST00000216267 human ensembl 74_37 -1 known silent c.1335 p.P445 0.033 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,prints_Bromodomain,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors BRD1 HGNC ENSG00000100425 99 0 0 112 61 35.2601 WDR49 0 genome.wustl.edu 37 3 167223127 167223127 + Missense_Mutation SNP G G T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 3 167223127 167223127 G T SNP WDR49 ENST00000308378 human ensembl 74_37 -1 known missense c.1796 p.P599H 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR49 HGNC ENSG00000174776 62 0 0 13 4 23.5294 LINC00969 0 genome.wustl.edu 37 3 195400728 195400728 + RNA SNP A A G TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 3 195400728 195400728 A G SNP LINC00969 ENST00000414625 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors LINC00969 HGNC ENSG00000242086 61 0 0 85 5 5.55556 RBM5 0 genome.wustl.edu 37 3 50147860 50147860 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 3 50147860 50147860 G A SNP RBM5 ENST00000347869 human ensembl 74_37 +1 known missense c.1327 p.A443T 0.794 NULL pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM5 HGNC ENSG00000003756 45 0 0 34 7 17.0732 KCTD6 0 genome.wustl.edu 37 3 58487062 58487062 + Silent SNP C C T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 3 58487062 58487062 C T SNP KCTD6 ENST00000355076 human ensembl 74_37 +1 known silent c.417 p.I139 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD6 HGNC ENSG00000168301 123 0 0 75 24 24.2424 AASDH 0 genome.wustl.edu 37 4 57221393 57221393 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 4 57221393 57221393 G A SNP AASDH ENST00000205214 human ensembl 74_37 -1 known missense c.1058 p.A353V 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like - no_errors AASDH HGNC ENSG00000157426 52 0 0 17 9 34.6154 PCDHB7 0 genome.wustl.edu 37 5 140554549 140554549 + Silent SNP G G T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 5 140554549 140554549 G T SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known silent c.2133 p.L711 0.983 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 590 0 0 1069 92 7.9242 PCDHB8 0 genome.wustl.edu 37 5 140558070 140558070 + Missense_Mutation SNP C C T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 5 140558070 140558070 C T SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known missense c.455 p.A152V 0.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC ENSG00000120322 291 0 0 321 24 6.95652 PPP2R2B 0 genome.wustl.edu 37 5 145980014 145980014 + Missense_Mutation SNP T T C TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 5 145980014 145980014 T C SNP PPP2R2B ENST00000394414 human ensembl 74_37 -1 known missense c.998 p.E333G 1.000 superfamily_WD40_repeat_dom,pirsf_PP2A_PR55,prints_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2B HGNC ENSG00000156475 26 0 0 19 10 34.4828 DOCK2 0 genome.wustl.edu 37 5 169445986 169445986 + Missense_Mutation SNP C C T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 5 169445986 169445986 C T SNP DOCK2 ENST00000433448 human ensembl 74_37 +1 known missense c.124 p.P42S 1.000 NULL NULL - no_errors DOCK2 HGNC ENSG00000134516 270 0 0 168 74 30.5785 LRRC14B 0 genome.wustl.edu 37 5 195112 195112 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 5 195112 195112 G A SNP LRRC14B ENST00000328278 human ensembl 74_37 +1 novel missense c.1189 p.G397R 1.000 NULL NULL - no_errors LRRC14B HGNC ENSG00000185028 28 0 0 60 25 29.4118 PDZD2 0 genome.wustl.edu 37 5 32088031 32088031 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 5 32088031 32088031 G A SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.4477 p.A1493T 0.022 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 18 0 0 41 13 24.0741 DEPDC1B 0 genome.wustl.edu 37 5 59983029 59983029 + Missense_Mutation SNP C C T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 5 59983029 59983029 C T SNP DEPDC1B ENST00000265036 human ensembl 74_37 -1 known missense c.74 p.R25H 1.000 smart_DEP_dom,pfscan_DEP_dom pfam_DEP_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom,pfscan_RhoGAP_dom - no_errors DEPDC1B HGNC ENSG00000035499 104 0 0 58 30 34.0909 ERCC8 0 genome.wustl.edu 37 5 60188270 60188270 + RNA SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 5 60188270 60188270 G A SNP ERCC8 ENST00000462279 human ensembl 74_37 -1 known rna NULL NULL 0.976 - - - no_errors ERCC8 HGNC ENSG00000049167 57 0 0 40 5 11.1111 MAP1B 0 genome.wustl.edu 37 5 71495792 71495792 + Missense_Mutation SNP C C T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 5 71495792 71495792 C T SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known missense c.6610 p.P2204S 0.990 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 148 0 0 203 60 22.8137 DMGDH 0 genome.wustl.edu 37 5 78340265 78340265 + Nonsense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 5 78340265 78340265 G A SNP DMGDH ENST00000255189 human ensembl 74_37 -1 known nonsense c.856 p.R286* 0.644 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_SoxG - no_errors DMGDH HGNC ENSG00000132837 68 0 0 46 14 23.3333 GPR98 0 genome.wustl.edu 37 5 90149266 90149266 + Missense_Mutation SNP T T G TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 5 90149266 90149266 T G SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.17370 p.S5790R 0.000 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 20 0 0 26 4 13.3333 TBC1D7 0 genome.wustl.edu 37 6 13307816 13307816 + RNA SNP C C T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 6 13307816 13307816 C T SNP TBC1D7 ENST00000607532 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TBC1D7 HGNC ENSG00000145979 108 0 0 36 29 44.6154 GRM1 0 genome.wustl.edu 37 6 146755495 146755495 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 6 146755495 146755495 G A SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.3148 p.A1050T 0.476 NULL pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 45 0 0 83 36 30.2521 ZC3H12D 0 genome.wustl.edu 37 6 149795522 149795522 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 6 149795522 149795522 G A SNP ZC3H12D ENST00000389942 human ensembl 74_37 -1 known missense c.158 p.P53L 0.000 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12D HGNC ENSG00000178199 11 0 0 22 27 55.102 LRP11 0 genome.wustl.edu 37 6 150158579 150158579 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 6 150158579 150158579 G A SNP LRP11 ENST00000239367 human ensembl 74_37 -1 known missense c.934 p.R312C 0.979 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_MANSC_N,pfam_LDrepeatLR_classA_rpt,superfamily_PKD_dom,superfamily_LDrepeatLR_classA_rpt,smart_MANSC_N,smart_PKD/Chitinase_dom,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_MANSC,pfscan_PKD_dom - no_errors LRP11 HGNC ENSG00000120256 53 0 0 42 17 28.8136 HIST1H2AE 0 genome.wustl.edu 37 6 26217505 26217505 + Silent SNP G G C TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 6 26217505 26217505 G C SNP HIST1H2AE ENST00000303910 human ensembl 74_37 +1 known silent c.303 p.V101 1.000 superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AE HGNC ENSG00000168274 74 0 0 159 48 23.1884 BAG6 0 genome.wustl.edu 37 6 31614268 31614268 + Missense_Mutation SNP A A G TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 6 31614268 31614268 A G SNP BAG6 ENST00000404765 human ensembl 74_37 -1 known missense c.821 p.L274P 1.000 pfam_DUF3538 pfam_DUF3538,pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors BAG6 HGNC ENSG00000204463 137 0 0 114 36 24 ZNF318 0 genome.wustl.edu 37 6 43305127 43305127 + Silent SNP C C T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 6 43305127 43305127 C T SNP ZNF318 ENST00000361428 human ensembl 74_37 -1 known silent c.6609 p.L2203 0.003 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ENSG00000171467 49 0 0 35 10 22.2222 DST 0 genome.wustl.edu 37 6 56416992 56416992 + Missense_Mutation SNP T T G TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 6 56416992 56416992 T G SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.16505 p.N5502T 0.012 pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 56 0 0 41 21 33.871 NYAP1 0 genome.wustl.edu 37 7 100086807 100086807 + Missense_Mutation SNP C C T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 7 100086807 100086807 C T SNP NYAP1 ENST00000423930 human ensembl 74_37 +1 known missense c.1463 p.T488M 0.978 NULL NULL - no_errors NYAP1 HGNC ENSG00000166924 23 0 0 20 7 25.9259 ENSG00000242902 0 genome.wustl.edu 37 7 128491472 128491472 + RNA SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 7 128491472 128491472 G A SNP ENSG00000242902 ENST00000469965 human ensembl 74_37 -1 known rna NULL NULL 0.067 - - - no_errors RP11-309L24.2 Clone_based_vega_gene ENSG00000242902 86 0 0 79 40 33.6134 GIMAP8 0 genome.wustl.edu 37 7 150171184 150171184 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 7 150171184 150171184 G A SNP GIMAP8 ENST00000307271 human ensembl 74_37 +1 known missense c.767 p.R256H 0.001 pfam_AIG1,superfamily_P-loop_NTPase pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP8 HGNC ENSG00000171115 92 0 0 97 33 25.3846 SDK1 0 genome.wustl.edu 37 7 4088991 4088991 + Missense_Mutation SNP C C T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 7 4088991 4088991 C T SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.2614 p.P872S 0.996 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 51 0 0 67 16 19.2771 GAL3ST4 0 genome.wustl.edu 37 7 99757823 99757823 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 7 99757823 99757823 G A SNP GAL3ST4 ENST00000360039 human ensembl 74_37 -1 known missense c.1189 p.R397W 0.998 pfam_Gal-3-0_sulfotransfrase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST4 HGNC ENSG00000197093 132 0 0 222 74 25 RSPO2 0 genome.wustl.edu 37 8 108972950 108972950 + Nonsense_Mutation SNP C C A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 8 108972950 108972950 C A SNP RSPO2 ENST00000276659 human ensembl 74_37 -1 known nonsense c.379 p.E127* 0.962 superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat superfamily_Growth_fac_rcpt_N_dom,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors RSPO2 HGNC ENSG00000147655 84 0 0 37 10 21.2766 FER1L6 0 genome.wustl.edu 37 8 124989793 124989793 + Missense_Mutation SNP T T G TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 8 124989793 124989793 T G SNP FER1L6 ENST00000399018 human ensembl 74_37 +1 known missense c.1007 p.L336R 0.996 superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom - no_errors FER1L6 HGNC ENSG00000214814 78 0 0 49 18 26.8657 KCNQ3 0 genome.wustl.edu 37 8 133492525 133492525 + Silent SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 8 133492525 133492525 G A SNP KCNQ3 ENST00000388996 human ensembl 74_37 -1 known silent c.255 p.I85 0.998 prints_K_chnl_volt-dep_KCNQ3 pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 15 0 0 31 11 26.1905 TMEM71 0 genome.wustl.edu 37 8 133759333 133759333 + Silent SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 8 133759333 133759333 G A SNP TMEM71 ENST00000377901 human ensembl 74_37 -1 known silent c.342 p.C114 0.015 NULL NULL - no_errors TMEM71 HGNC ENSG00000165071 20 0 0 21 5 19.2308 CYP11B1 0 genome.wustl.edu 37 8 143957257 143957257 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 8 143957257 143957257 G A SNP CYP11B1 ENST00000292427 human ensembl 74_37 -1 known missense c.992 p.A331V 0.998 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450 - no_errors CYP11B1 HGNC ENSG00000160882 142 0 0 181 70 27.8884 MYOM2 0 genome.wustl.edu 37 8 2054066 2054066 + Silent SNP A A G TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 8 2054066 2054066 A G SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known silent c.2769 p.Q923 0.001 smart_Ig_sub,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM2 HGNC ENSG00000036448 93 0 0 30 3 9.09091 DUSP26 0 genome.wustl.edu 37 8 33454943 33454943 + Missense_Mutation SNP T T C TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 8 33454943 33454943 T C SNP DUSP26 ENST00000256261 human ensembl 74_37 -1 known missense c.91 p.T31A 0.011 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famA,prints_Atypical_DUSP - no_errors DUSP26 HGNC ENSG00000133878 61 0 0 59 22 27.1605 KCNT1 0 genome.wustl.edu 37 9 138671263 138671263 + Missense_Mutation SNP A A G TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 9 138671263 138671263 A G SNP KCNT1 ENST00000298480 human ensembl 74_37 +1 known missense c.2788 p.M930V 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT1 HGNC ENSG00000107147 201 0 0 306 35 10.2639 PTENP1 0 genome.wustl.edu 37 9 33675629 33675629 + RNA SNP A A C TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 9 33675629 33675629 A C SNP PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PTENP1 HGNC ENSG00000237984 99 0 0 76 6 7.31707 SMC5 0 genome.wustl.edu 37 9 72874089 72874089 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 9 72874089 72874089 G A SNP SMC5 ENST00000361138 human ensembl 74_37 +1 known missense c.95 p.R32K 0.979 NULL pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase - no_errors SMC5 HGNC ENSG00000198887 11 0 0 12 8 40 FTSJ1 0 genome.wustl.edu 37 X 48341221 48341221 + RNA SNP C C A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 X 48341221 48341221 C A SNP FTSJ1 ENST00000466371 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FTSJ1 HGNC ENSG00000068438 21 0 0 25 9 26.4706 USP51 0 genome.wustl.edu 37 X 55513295 55513295 + Nonsense_Mutation SNP A A T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 X 55513295 55513295 A T SNP USP51 ENST00000500968 human ensembl 74_37 -1 known nonsense c.2078 p.L693* 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP51 HGNC ENSG00000247746 95 0 0 33 16 32.6531 ATP1B1 0 genome.wustl.edu 37 1 169096459 169096462 + Frame_Shift_Del DEL TAGA TAGA - TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 TAGA TAGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 1 169096459 169096462 TAGA - DEL ATP1B1 ENST00000367815 human ensembl 74_37 +1 known frame_shift_del c.386_383 p.G129fs 0.605:0.995:0.996:0.001 pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta - no_errors ATP1B1 HGNC ENSG00000143153 52 0 0 43 15 25.8621 CCDC18 0 genome.wustl.edu 37 1 93705414 93705415 + Frame_Shift_Ins INS - - G TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 1 93705414 93705415 - G INS CCDC18 ENST00000557479 human ensembl 74_37 +1 known frame_shift_ins c.3296_3297 p.Y1101fs 1.000:1.000 superfamily_Prefoldin superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC18 HGNC ENSG00000122483 82 0 0 35 3 7.89474 SUV420H1 0 genome.wustl.edu 37 11 67926536 67926536 + Frame_Shift_Del DEL G G - TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 11 67926536 67926536 G - DEL SUV420H1 ENST00000304363 human ensembl 74_37 -1 known frame_shift_del c.1277 p.S426fs 1.000 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SUV420H1 HGNC ENSG00000110066 79 0 0 71 49 40.8333 FAM155A 0 genome.wustl.edu 37 13 108518687 108518689 + In_Frame_Del DEL CTG CTG - TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 13 108518687 108518689 CTG - DEL FAM155A ENST00000375915 human ensembl 74_37 -1 known in_frame_del c.258_256 p.Q86in_frame_del 1.000:0.992:0.987 NULL NULL - no_errors FAM155A HGNC ENSG00000204442 21 0 0 128 7 5.18519 ENSG00000258027 0 genome.wustl.edu 37 14 20086382 20086383 + Splice_Site INS - - AAAA TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 14 20086382 20086383 - AAAA INS ENSG00000258027 ENST00000548217 human ensembl 74_37 +1 known splice_site_ins c.NULL NULL 1.000:0.986 - - - no_errors RP11-597A11.1 Clone_based_vega_gene ENSG00000258027 21 0 0 19 8 29.6296 PYGL 0 genome.wustl.edu 37 14 51375622 51375622 + Frame_Shift_Del DEL A A - TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 14 51375622 51375622 A - DEL PYGL ENST00000216392 human ensembl 74_37 -1 known frame_shift_del c.2229 p.I743fs 0.743 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGL HGNC ENSG00000100504 94 0 0 92 21 18.5841 ENSG00000257275 0 genome.wustl.edu 37 14 96178149 96178150 + RNA DEL AG AG - TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 14 96178149 96178150 AG - DEL ENSG00000257275 ENST00000547644 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001 - - - no_errors RP11-164H13.1 Clone_based_vega_gene ENSG00000257275 34 0 0 38 5 11.6279 DNM1P47 0 genome.wustl.edu 37 15 102292971 102292974 + RNA DEL CTCA CTCA - TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 CTCA CTCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 15 102292971 102292974 CTCA - DEL DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.999:0.997:0.996:0.935 - - - no_errors DNM1P47 HGNC ENSG00000259660 39 0 0 53 6 10.1695 C22orf43 0 genome.wustl.edu 37 22 23964283 23964285 + In_Frame_Del DEL CAT CAT - TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 CAT CAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 22 23964283 23964285 CAT - DEL C22orf43 ENST00000317749 human ensembl 74_37 -1 known in_frame_del c.379_377 p.D126in_frame_del 0.003:0.003:0.004 NULL NULL - no_errors C22orf43 HGNC ENSG00000189269 20 0 0 38 11 22.449 ZNF394 0 genome.wustl.edu 37 7 99091995 99091996 + Frame_Shift_Del DEL AG AG - TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 7 99091995 99091996 AG - DEL ZNF394 ENST00000337673 human ensembl 74_37 -1 known frame_shift_del c.843_842 p.S281fs 0.000:0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF394 HGNC ENSG00000160908 135 0 0 134 44 24.7191