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 SPAG17 0 genome.wustl.edu 37 1 118693873 118693873 + Silent SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 1 118693873 118693873 C T SNP SPAG17 ENST00000336338 human ensembl 74_37 -1 known silent c.207 p.S69 0.000 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 73 0 0 38 18 32.1429 PRAMEF4 0 genome.wustl.edu 37 1 12942077 12942077 + Missense_Mutation SNP T T G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 1 12942077 12942077 T G SNP PRAMEF4 ENST00000235349 human ensembl 74_37 -1 known missense c.473 p.K158T 0.000 NULL NULL - no_errors PRAMEF4 HGNC ENSG00000243073 266 0 0 129 62 32.4607 PRDM2 0 genome.wustl.edu 37 1 14105124 14105124 + Missense_Mutation SNP A A T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 1 14105124 14105124 A T SNP PRDM2 ENST00000235372 human ensembl 74_37 +1 known missense c.834 p.E278D 0.274 pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 34 0 0 16 3 15.7895 PDE4DIP 0 genome.wustl.edu 37 1 145075705 145075705 + Missense_Mutation SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 1 145075705 145075705 C T SNP PDE4DIP ENST00000369348 human ensembl 74_37 -1 known missense c.158 p.R53H 0.002 NULL pfam_Spindle_assoc - no_errors PDE4DIP HGNC ENSG00000178104 76 0 0 82 7 7.86517 DCST1 0 genome.wustl.edu 37 1 155019789 155019789 + Splice_Site SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 1 155019789 155019789 G A SNP DCST1 ENST00000295542 human ensembl 74_37 +1 known splice_site c.1612+1 e13+1 1.000 - - - no_errors DCST1 HGNC ENSG00000163357 75 0 0 85 16 15.8416 FDPS 0 genome.wustl.edu 37 1 155289612 155289612 + Missense_Mutation SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 1 155289612 155289612 C T SNP FDPS ENST00000356657 human ensembl 74_37 +1 known missense c.952 p.P318S 1.000 pfam_Polyprenyl_synt,superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors FDPS HGNC ENSG00000160752 230 0 0 257 69 21.1656 SMG5 0 genome.wustl.edu 37 1 156244428 156244428 + Silent SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 1 156244428 156244428 C T SNP SMG5 ENST00000361813 human ensembl 74_37 -1 known silent c.504 p.Q168 1.000 pfam_EST1 pfam_EST1,smart_PIN_dom - no_errors SMG5 HGNC ENSG00000198952 146 0 0 168 43 20.3791 FCRL4 0 genome.wustl.edu 37 1 157557325 157557325 + Silent SNP T T C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 1 157557325 157557325 T C SNP FCRL4 ENST00000271532 human ensembl 74_37 -1 known silent c.588 p.K196 0.002 pfscan_Ig-like_dom pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL4 HGNC ENSG00000163518 81 0 0 87 21 19.4444 OR10X1 0 genome.wustl.edu 37 1 158549038 158549038 + Missense_Mutation SNP T T G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 1 158549038 158549038 T G SNP OR10X1 ENST00000368150 human ensembl 74_37 -1 known missense c.652 p.I218L 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10X1 HGNC ENSG00000186400 76 0 0 74 14 15.9091 SPTA1 0 genome.wustl.edu 37 1 158582617 158582617 + Missense_Mutation SNP T T A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 1 158582617 158582617 T A SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.7124 p.D2375V 1.000 pfam_EF-hand_Ca_insen pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 89 0 0 46 80 63.4921 SPTA1 0 genome.wustl.edu 37 1 158582618 158582618 + Missense_Mutation SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 1 158582618 158582618 C T SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.7123 p.D2375N 1.000 pfam_EF-hand_Ca_insen pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 90 0 0 46 80 63.4921 SPTA1 0 genome.wustl.edu 37 1 158637676 158637676 + Missense_Mutation SNP C C A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 1 158637676 158637676 C A SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.2010 p.E670D 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 41 0 0 31 10 24.3902 SPTA1 0 genome.wustl.edu 37 1 158653170 158653170 + Silent SNP T T C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 1 158653170 158653170 T C SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known silent c.381 p.E127 0.996 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 129 0 0 124 31 20 OR10J3 0 genome.wustl.edu 37 1 159284335 159284335 + Missense_Mutation SNP T T G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 1 159284335 159284335 T G SNP OR10J3 ENST00000332217 human ensembl 74_37 -1 known missense c.115 p.T39P 0.366 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J3 HGNC ENSG00000196266 184 0 0 196 49 20 SLAMF8 0 genome.wustl.edu 37 1 159802766 159802766 + Missense_Mutation SNP C C A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 1 159802766 159802766 C A SNP SLAMF8 ENST00000289707 human ensembl 74_37 +1 known missense c.468 p.N156K 0.990 pfscan_Ig-like_dom pfscan_Ig-like_dom - no_errors SLAMF8 HGNC ENSG00000158714 89 0 0 105 21 16.6667 IGSF9 0 genome.wustl.edu 37 1 159899184 159899184 + Splice_Site SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 1 159899184 159899184 C T SNP IGSF9 ENST00000368094 human ensembl 74_37 -1 known splice_site c.2327-1 e17-1 0.795 - - - no_errors IGSF9 HGNC ENSG00000085552 75 0 0 77 24 23.7624 FAM131C 0 genome.wustl.edu 37 1 16388636 16388636 + Missense_Mutation SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 1 16388636 16388636 C T SNP FAM131C ENST00000375662 human ensembl 74_37 -1 known missense c.226 p.G76S 0.998 NULL superfamily_Chromodomain-like - no_errors FAM131C HGNC ENSG00000185519 119 0 0 106 32 23.1884 NBPF1 0 genome.wustl.edu 37 1 16893760 16893760 + Missense_Mutation SNP A A C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 1 16893760 16893760 A C SNP NBPF1 ENST00000430580 human ensembl 74_37 -1 novel missense c.2753 p.L918R 0.000 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF1 HGNC ENSG00000219481 1126 0 0 871 46 5.01636 MROH9 0 genome.wustl.edu 37 1 170934367 170934367 + Silent SNP A A C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 1 170934367 170934367 A C SNP MROH9 ENST00000367759 human ensembl 74_37 +1 known silent c.451 p.R151 0.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH9 HGNC ENSG00000117501 123 0 0 136 41 23.1638 PIGC 0 genome.wustl.edu 37 1 172411651 172411651 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 1 172411651 172411651 G A SNP PIGC ENST00000258324 human ensembl 74_37 -1 known missense c.112 p.R38W 1.000 pfam_Plno_GlcNAc_GPI2,pirsf_Plno_GlcNAc_GPI2 pfam_Plno_GlcNAc_GPI2,pirsf_Plno_GlcNAc_GPI2 - no_errors PIGC HGNC ENSG00000135845 159 0 0 141 45 24.1935 BRINP2 0 genome.wustl.edu 37 1 177249637 177249637 + Missense_Mutation SNP G G T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 1 177249637 177249637 G T SNP BRINP2 ENST00000361539 human ensembl 74_37 +1 known missense c.1325 p.S442I 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP2 HGNC ENSG00000198797 38 0 0 67 13 16.25 BRINP2 0 genome.wustl.edu 37 1 177249787 177249787 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 1 177249787 177249787 G A SNP BRINP2 ENST00000361539 human ensembl 74_37 +1 known missense c.1475 p.R492Q 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP2 HGNC ENSG00000198797 58 0 0 59 24 28.9157 XPR1 0 genome.wustl.edu 37 1 180849227 180849227 + Silent SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 1 180849227 180849227 C T SNP XPR1 ENST00000367590 human ensembl 74_37 +1 known silent c.1824 p.N608 1.000 pfam_EXS_C pfam_EXS_C,pfam_SPX_N - no_errors XPR1 HGNC ENSG00000143324 75 0 0 90 19 17.4312 LAMC1 0 genome.wustl.edu 37 1 183100472 183100472 + Silent SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 1 183100472 183100472 C T SNP LAMC1 ENST00000258341 human ensembl 74_37 +1 known silent c.3525 p.N1175 1.000 NULL pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC1 HGNC ENSG00000135862 171 0 0 181 39 17.7273 KLHDC7A 0 genome.wustl.edu 37 1 18809751 18809751 + Missense_Mutation SNP C C A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 1 18809751 18809751 C A SNP KLHDC7A ENST00000400664 human ensembl 74_37 +1 known missense c.2276 p.T759N 0.991 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7A HGNC ENSG00000179023 140 0 0 79 34 30.0885 PKP1 0 genome.wustl.edu 37 1 201291195 201291195 + Silent SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 1 201291195 201291195 C T SNP PKP1 ENST00000263946 human ensembl 74_37 +1 known silent c.1500 p.N500 0.033 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP1 HGNC ENSG00000081277 63 0 0 75 13 14.7727 FMOD 0 genome.wustl.edu 37 1 203311506 203311506 + Missense_Mutation SNP G G C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 1 203311506 203311506 G C SNP FMOD ENST00000354955 human ensembl 74_37 -1 known missense c.1096 p.L366V 0.999 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors FMOD HGNC ENSG00000122176 79 0 0 69 12 14.8148 PTPN14 0 genome.wustl.edu 37 1 214585030 214585030 + Silent SNP A A C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 1 214585030 214585030 A C SNP PTPN14 ENST00000366956 human ensembl 74_37 -1 known silent c.507 p.P169 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN14 HGNC ENSG00000152104 60 0 0 51 7 12.069 COG2 0 genome.wustl.edu 37 1 230805208 230805208 + Missense_Mutation SNP A A C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 1 230805208 230805208 A C SNP COG2 ENST00000366669 human ensembl 74_37 +1 known missense c.701 p.Y234S 0.979 NULL pfam_COG_complex_COG2_C,pfam_COG_su2_N - no_errors COG2 HGNC ENSG00000135775 55 0 0 30 39 56.5217 COG2 0 genome.wustl.edu 37 1 230805209 230805209 + Nonsense_Mutation SNP C C A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 1 230805209 230805209 C A SNP COG2 ENST00000366669 human ensembl 74_37 +1 known nonsense c.702 p.Y234* 0.752 NULL pfam_COG_complex_COG2_C,pfam_COG_su2_N - no_errors COG2 HGNC ENSG00000135775 55 0 0 31 38 55.0725 OR2T4 0 genome.wustl.edu 37 1 248525400 248525400 + Missense_Mutation SNP G G C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 1 248525400 248525400 G C SNP OR2T4 ENST00000366475 human ensembl 74_37 +1 known missense c.518 p.C173S 0.002 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 OR2T4 HGNC ENSG00000196944 259 0 0 307 80 20.6718 CSMD2 0 genome.wustl.edu 37 1 34076671 34076671 + Missense_Mutation SNP T T A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 1 34076671 34076671 T A SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.6313 p.N2105Y 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 39 0 0 12 13 52 ZMYM6 0 genome.wustl.edu 37 1 35474521 35474521 + Nonsense_Mutation SNP G G T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 1 35474521 35474521 G T SNP ZMYM6 ENST00000357182 human ensembl 74_37 -1 known nonsense c.1497 p.C499* 1.000 pfam_Znf_MYM,smart_TRASH_dom pfam_Znf_MYM,superfamily_RNaseH-like_dom,smart_TRASH_dom - no_errors ZMYM6 HGNC ENSG00000163867 50 0 0 19 15 44.1176 AGO1 0 genome.wustl.edu 37 1 36367923 36367923 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 1 36367923 36367923 G A SNP AGO1 ENST00000373204 human ensembl 74_37 +1 known missense c.1382 p.R461Q 1.000 NULL pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO1 HGNC ENSG00000092847 60 0 0 31 18 36.7347 CSF3R 0 genome.wustl.edu 37 1 36935296 36935296 + Nonsense_Mutation SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 1 36935296 36935296 C T SNP CSF3R ENST00000373103 human ensembl 74_37 -1 known nonsense c.1431 p.W477* 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF3R HGNC ENSG00000119535 185 0 0 76 45 37.1901 PABPC4 0 genome.wustl.edu 37 1 40038130 40038130 + Nonsense_Mutation SNP T T A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 1 40038130 40038130 T A SNP PABPC4 ENST00000372858 human ensembl 74_37 -1 known nonsense c.322 p.K108* 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC4 HGNC ENSG00000090621 78 0 0 27 24 47.0588 LEPRE1 0 genome.wustl.edu 37 1 43221309 43221309 + Splice_Site SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 1 43221309 43221309 C T SNP LEPRE1 ENST00000236040 human ensembl 74_37 -1 known splice_site c.1081-1 e6-1 1.000 - - - no_errors LEPRE1 HGNC ENSG00000117385 44 0 0 12 10 45.4545 MROH7-TTC4 0 genome.wustl.edu 37 1 55166899 55166899 + Missense_Mutation SNP C C A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 1 55166899 55166899 C A SNP MROH7-TTC4 ENST00000414150 human ensembl 74_37 +1 known missense c.3189 p.H1063Q 0.461 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH7-TTC4 HGNC ENSG00000271723 70 0 0 26 9 25.7143 FPGT 0 genome.wustl.edu 37 1 74670754 74670754 + Silent SNP T T C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 1 74670754 74670754 T C SNP FPGT ENST00000370898 human ensembl 74_37 +1 known silent c.1062 p.L354 0.883 pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase - no_errors FPGT HGNC ENSG00000254685 66 0 0 24 15 38.4615 ELTD1 0 genome.wustl.edu 37 1 79386006 79386006 + Missense_Mutation SNP A A C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 1 79386006 79386006 A C SNP ELTD1 ENST00000370742 human ensembl 74_37 -1 known missense c.1323 p.C441W 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors ELTD1 HGNC ENSG00000162618 93 0 0 41 14 25.4545 COL24A1 0 genome.wustl.edu 37 1 86304297 86304297 + Missense_Mutation SNP T T C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 1 86304297 86304297 T C SNP COL24A1 ENST00000370571 human ensembl 74_37 -1 known missense c.3652 p.R1218G 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 134 0 0 61 45 42.4528 ABCA4 0 genome.wustl.edu 37 1 94506773 94506773 + Missense_Mutation SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 1 94506773 94506773 C T SNP ABCA4 ENST00000370225 human ensembl 74_37 -1 known missense c.3514 p.G1172S 0.000 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 51 0 0 25 16 39.0244 DOCK1 0 genome.wustl.edu 37 10 129207378 129207378 + Silent SNP A A T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 10 129207378 129207378 A T SNP DOCK1 ENST00000280333 human ensembl 74_37 +1 known silent c.4137 p.P1379 0.977 NULL pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC ENSG00000150760 16 0 0 4 3 42.8571 SLC39A12 0 genome.wustl.edu 37 10 18280188 18280188 + Missense_Mutation SNP T T G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 10 18280188 18280188 T G SNP SLC39A12 ENST00000377369 human ensembl 74_37 +1 known missense c.1378 p.L460V 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A12 HGNC ENSG00000148482 64 0 0 24 9 27.2727 NEBL 0 genome.wustl.edu 37 10 21074831 21074831 + Missense_Mutation SNP C C A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 10 21074831 21074831 C A SNP NEBL ENST00000377122 human ensembl 74_37 -1 known missense c.2890 p.D964Y 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors NEBL HGNC ENSG00000078114 89 0 0 40 14 25.9259 SKIDA1 0 genome.wustl.edu 37 10 21806719 21806719 + Silent SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 10 21806719 21806719 C T SNP SKIDA1 ENST00000449193 human ensembl 74_37 -1 known silent c.33 p.V11 1.000 pfam_Transform_Ski,superfamily_DNA-bd_dom_put pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors SKIDA1 HGNC ENSG00000180592 29 0 0 8 5 38.4615 ANKRD30A 0 genome.wustl.edu 37 10 37486383 37486383 + Silent SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 10 37486383 37486383 G A SNP ANKRD30A ENST00000361713 human ensembl 74_37 +1 known silent c.2523 p.L841 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 110 0 0 35 18 33.9623 OR13A1 0 genome.wustl.edu 37 10 45799787 45799787 + Silent SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 10 45799787 45799787 G A SNP OR13A1 ENST00000374401 human ensembl 74_37 -1 known silent c.84 p.T28 0.001 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13A1 HGNC ENSG00000256574 97 0 0 46 22 32.3529 CTNNA3 0 genome.wustl.edu 37 10 68940150 68940150 + Missense_Mutation SNP G G C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 10 68940150 68940150 G C SNP CTNNA3 ENST00000373744 human ensembl 74_37 -1 known missense c.972 p.H324Q 1.000 pfam_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC ENSG00000183230 80 0 0 29 25 46.2963 CDH23 0 genome.wustl.edu 37 10 73326604 73326604 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 10 73326604 73326604 G A SNP CDH23 ENST00000461841 human ensembl 74_37 +1 known missense c.670 p.A224T 0.560 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 45 0 0 38 21 35.5932 SFTPD 0 genome.wustl.edu 37 10 81706392 81706392 + Silent SNP T T C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 10 81706392 81706392 T C SNP SFTPD ENST00000372292 human ensembl 74_37 -1 known silent c.24 p.A8 0.003 NULL pfam_C-type_lectin,pfam_Collagen,pfam_Surfac_D-trimer,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors SFTPD HGNC ENSG00000133661 36 0 0 12 6 33.3333 C11orf1 0 genome.wustl.edu 37 11 111750326 111750326 + Silent SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 11 111750326 111750326 C T SNP C11orf1 ENST00000260276 human ensembl 74_37 +1 known silent c.42 p.F14 0.880 pfam_UPF0686 pfam_UPF0686 - no_errors C11orf1 HGNC ENSG00000137720 252 0 0 123 51 29.3103 CSNK2A3 0 genome.wustl.edu 37 11 11374473 11374473 + Missense_Mutation SNP A A C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 11 11374473 11374473 A C SNP CSNK2A3 ENST00000528848 human ensembl 74_37 -1 novel missense c.194 p.V65G 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK2A3 HGNC ENSG00000254598 72 0 0 19 6 24 NXPE2 0 genome.wustl.edu 37 11 114569220 114569220 + Missense_Mutation SNP C C A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 11 114569220 114569220 C A SNP NXPE2 ENST00000389586 human ensembl 74_37 +1 known missense c.586 p.P196T 1.000 pfam_NXPH/NXPE pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE2 HGNC ENSG00000204361 32 0 0 18 6 25 MCAM 0 genome.wustl.edu 37 11 119185697 119185697 + Missense_Mutation SNP C C G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 11 119185697 119185697 C G SNP MCAM ENST00000264036 human ensembl 74_37 -1 known missense c.246 p.Q82H 0.981 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MCAM HGNC ENSG00000076706 114 0 0 55 34 38.2022 TECTA 0 genome.wustl.edu 37 11 121037375 121037375 + Silent SNP T T G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 11 121037375 121037375 T G SNP TECTA ENST00000264037 human ensembl 74_37 +1 known silent c.5472 p.G1824 1.000 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 102 0 0 53 22 29.3333 C11orf63 0 genome.wustl.edu 37 11 122805312 122805312 + Missense_Mutation SNP A A G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 11 122805312 122805312 A G SNP C11orf63 ENST00000227349 human ensembl 74_37 +1 known missense c.1163 p.Q388R 0.018 NULL NULL - no_errors C11orf63 HGNC ENSG00000109944 45 0 0 11 10 47.619 COPB1 0 genome.wustl.edu 37 11 14515848 14515848 + Silent SNP A A G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 11 14515848 14515848 A G SNP COPB1 ENST00000249923 human ensembl 74_37 -1 known silent c.229 p.L77 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1 pfam_Coatomer_bsu_C,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1 - no_errors COPB1 HGNC ENSG00000129083 78 0 0 34 19 35.8491 TCP11L1 0 genome.wustl.edu 37 11 33090345 33090345 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 11 33090345 33090345 G A SNP TCP11L1 ENST00000527661 human ensembl 74_37 +1 known missense c.1267 p.V423M 0.011 pfam_Tcp11 pfam_Tcp11 - no_errors TCP11L1 HGNC ENSG00000176148 51 0 0 26 13 33.3333 APIP 0 genome.wustl.edu 37 11 34916581 34916581 + Missense_Mutation SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 11 34916581 34916581 C T SNP APIP ENST00000278359 human ensembl 74_37 -1 known missense c.185 p.G62E 1.000 pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N,tigrfam_MethylthioRu-1-P_deHdtase_MtnB pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N,tigrfam_MethylthioRu-1-P_deHdtase_MtnB - no_errors APIP HGNC ENSG00000149089 137 0 0 71 36 33.6449 TSPAN18 0 genome.wustl.edu 37 11 44941380 44941380 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 11 44941380 44941380 G A SNP TSPAN18 ENST00000340160 human ensembl 74_37 +1 known missense c.445 p.G149R 1.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN18 HGNC ENSG00000157570 226 0 0 139 74 34.7418 CRY2 0 genome.wustl.edu 37 11 45880336 45880336 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 11 45880336 45880336 G A SNP CRY2 ENST00000443527 human ensembl 74_37 +1 known missense c.442 p.E148K 1.000 pfam_DNA_photolyase_N,superfamily_DNA_photolyase_N pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_DNA_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_DNA_photolyase_N - no_errors CRY2 HGNC ENSG00000121671 64 0 0 30 18 37.5 OR52I2 0 genome.wustl.edu 37 11 4608954 4608954 + Missense_Mutation SNP A A C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 11 4608954 4608954 A C SNP OR52I2 ENST00000312614 human ensembl 74_37 +1 known missense c.912 p.Q304H 0.185 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52I2 HGNC ENSG00000226288 206 0 0 113 62 35.4286 OR51G1 0 genome.wustl.edu 37 11 4945136 4945136 + Missense_Mutation SNP T T C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 11 4945136 4945136 T C SNP OR51G1 ENST00000321961 human ensembl 74_37 -1 known missense c.434 p.K145R 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 OR51G1 HGNC ENSG00000176879 81 0 0 43 11 20.3704 OR5AS1 0 genome.wustl.edu 37 11 55798204 55798204 + Missense_Mutation SNP T T G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 11 55798204 55798204 T G SNP OR5AS1 ENST00000313555 human ensembl 74_37 +1 known missense c.310 p.F104V 0.994 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 OR5AS1 HGNC ENSG00000181785 42 0 0 5 12 70.5882 OR5T2 0 genome.wustl.edu 37 11 56000235 56000235 + Missense_Mutation SNP C C G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 11 56000235 56000235 C G SNP OR5T2 ENST00000313264 human ensembl 74_37 -1 known missense c.427 p.A143P 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 OR5T2 HGNC ENSG00000181718 117 0 0 24 21 46.6667 OR5B12 0 genome.wustl.edu 37 11 58207450 58207450 + Missense_Mutation SNP A A C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 11 58207450 58207450 A C SNP OR5B12 ENST00000302572 human ensembl 74_37 -1 known missense c.175 p.F59V 0.992 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR5B12 HGNC ENSG00000172362 63 0 0 25 16 39.0244 BANF1 0 genome.wustl.edu 37 11 65770753 65770753 + Missense_Mutation SNP T T C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 11 65770753 65770753 T C SNP BANF1 ENST00000312175 human ensembl 74_37 +1 known missense c.32 p.V11A 1.000 pfam_BAF_prot,superfamily_BAF_prot pfam_BAF_prot,superfamily_BAF_prot - no_errors BANF1 HGNC ENSG00000175334 34 0 0 12 11 47.8261 OR2AG2 0 genome.wustl.edu 37 11 6789658 6789658 + Silent SNP C C A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 11 6789658 6789658 C A SNP OR2AG2 ENST00000338569 human ensembl 74_37 -1 known silent c.531 p.L177 0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2AG2 HGNC ENSG00000188124 46 0 0 37 24 39.3443 OR2D2 0 genome.wustl.edu 37 11 6913644 6913644 + Missense_Mutation SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 11 6913644 6913644 C T SNP OR2D2 ENST00000299459 human ensembl 74_37 -1 known missense c.88 p.V30I 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt - no_errors OR2D2 HGNC ENSG00000166368 123 1 0.806452 65 24 26.9663 SHANK2 0 genome.wustl.edu 37 11 70333492 70333492 + Missense_Mutation SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 11 70333492 70333492 C T SNP SHANK2 ENST00000338508 human ensembl 74_37 -1 known missense c.2909 p.R970Q 0.491 NULL pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK2 HGNC ENSG00000162105 101 0 0 322 59 15.4856 RELT 0 genome.wustl.edu 37 11 73101966 73101966 + Missense_Mutation SNP G G T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 11 73101966 73101966 G T SNP RELT ENST00000064780 human ensembl 74_37 +1 known missense c.287 p.G96V 1.000 prints_TNFR_19-like pfam_TNF_rcpt_RELT,prints_TNFR_19-like - no_errors RELT HGNC ENSG00000054967 84 0 0 34 25 42.3729 KCNE3 0 genome.wustl.edu 37 11 74168370 74168370 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 11 74168370 74168370 G A SNP KCNE3 ENST00000310128 human ensembl 74_37 -1 known missense c.239 p.T80I 1.000 pfam_K_chnl_volt-dep_bsu_KCNE,prints_K_chnl_volt-dep_bsu_KCNE pfam_K_chnl_volt-dep_bsu_KCNE,prints_K_chnl_volt-dep_bsu_KCNE3,prints_K_chnl_volt-dep_bsu_KCNE - no_errors KCNE3 HGNC ENSG00000175538 56 0 0 33 20 37.7358 PCF11 0 genome.wustl.edu 37 11 82880354 82880354 + Missense_Mutation SNP A A G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 11 82880354 82880354 A G SNP PCF11 ENST00000298281 human ensembl 74_37 +1 known missense c.2977 p.I993V 0.898 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom - no_errors PCF11 HGNC ENSG00000165494 38 0 0 17 11 39.2857 DLG2 0 genome.wustl.edu 37 11 84996380 84996380 + Missense_Mutation SNP G G T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 11 84996380 84996380 G T SNP DLG2 ENST00000376104 human ensembl 74_37 -1 known missense c.70 p.L24I 1.000 pfam_L27_1,pfscan_L27 pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG2 HGNC ENSG00000150672 55 0 0 13 14 51.8519 FAT3 0 genome.wustl.edu 37 11 92088479 92088479 + Silent SNP T T C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 11 92088479 92088479 T C SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known silent c.3201 p.A1067 0.004 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 75 0 0 22 14 38.8889 OLR1 0 genome.wustl.edu 37 12 10313058 10313058 + Missense_Mutation SNP A A C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 12 10313058 10313058 A C SNP OLR1 ENST00000309539 human ensembl 74_37 -1 known missense c.568 p.F190V 1.000 pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors OLR1 HGNC ENSG00000173391 22 0 0 11 7 38.8889 WSCD2 0 genome.wustl.edu 37 12 108589684 108589684 + Silent SNP C C G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 12 108589684 108589684 C G SNP WSCD2 ENST00000261400 human ensembl 74_37 +1 known silent c.75 p.L25 1.000 NULL pfam_WSC_carb-bd,superfamily_P-loop_NTPase,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD2 HGNC ENSG00000075035 155 0 0 67 40 37.3832 WSCD2 0 genome.wustl.edu 37 12 108589709 108589709 + Missense_Mutation SNP T T G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 12 108589709 108589709 T G SNP WSCD2 ENST00000261400 human ensembl 74_37 +1 known missense c.100 p.F34V 1.000 NULL pfam_WSC_carb-bd,superfamily_P-loop_NTPase,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD2 HGNC ENSG00000075035 171 0 0 72 45 38.4615 CAMKK2 0 genome.wustl.edu 37 12 121712174 121712174 + Silent SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 12 121712174 121712174 G A SNP CAMKK2 ENST00000324774 human ensembl 74_37 -1 known silent c.156 p.F52 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMKK2 HGNC ENSG00000110931 53 0 0 20 12 37.5 WDR66 0 genome.wustl.edu 37 12 122380489 122380489 + Missense_Mutation SNP A A G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 12 122380489 122380489 A G SNP WDR66 ENST00000288912 human ensembl 74_37 +1 known missense c.1048 p.M350V 0.001 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR66 HGNC ENSG00000158023 42 0 0 27 8 22.8571 GOLGA3 0 genome.wustl.edu 37 12 133360752 133360752 + Missense_Mutation SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 12 133360752 133360752 C T SNP GOLGA3 ENST00000204726 human ensembl 74_37 -1 known missense c.3265 p.E1089K 1.000 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 33 0 0 14 11 44 ABCC9 0 genome.wustl.edu 37 12 22078957 22078957 + Missense_Mutation SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 12 22078957 22078957 C T SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known missense c.325 p.V109M 0.821 NULL 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 131 0 0 71 26 26.8041 C12orf71 0 genome.wustl.edu 37 12 27235169 27235169 + Missense_Mutation SNP A A C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 12 27235169 27235169 A C SNP C12orf71 ENST00000429849 human ensembl 74_37 -1 known missense c.248 p.F83C 0.844 NULL NULL - no_errors C12orf71 HGNC ENSG00000214700 39 0 0 21 9 30 CCDC91 0 genome.wustl.edu 37 12 28605524 28605524 + Missense_Mutation SNP A A C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 12 28605524 28605524 A C SNP CCDC91 ENST00000381259 human ensembl 74_37 +1 known missense c.1038 p.K346N 0.998 NULL NULL - no_errors CCDC91 HGNC ENSG00000123106 53 0 0 16 7 30.4348 PDZRN4 0 genome.wustl.edu 37 12 41961639 41961639 + Silent SNP T T C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 12 41961639 41961639 T C SNP PDZRN4 ENST00000402685 human ensembl 74_37 +1 known silent c.1522 p.L508 1.000 NULL pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors PDZRN4 HGNC ENSG00000165966 81 0 0 38 26 40.625 KDM5A 0 genome.wustl.edu 37 12 432348 432348 + Silent SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 12 432348 432348 G A SNP KDM5A ENST00000399788 human ensembl 74_37 -1 known silent c.2175 p.L725 0.942 pfam_Znf_C5HC2 pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC ENSG00000073614 40 0 0 22 12 35.2941 SCN8A 0 genome.wustl.edu 37 12 52162919 52162919 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 12 52162919 52162919 G A SNP SCN8A ENST00000354534 human ensembl 74_37 +1 known missense c.3172 p.D1058N 1.000 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 20 0 0 9 6 40 SOAT2 0 genome.wustl.edu 37 12 53512991 53512991 + Silent SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 12 53512991 53512991 C T SNP SOAT2 ENST00000301466 human ensembl 74_37 +1 known silent c.993 p.F331 1.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors SOAT2 HGNC ENSG00000167780 66 0 0 25 11 30.5556 CEP290 0 genome.wustl.edu 37 12 88472973 88472973 + Missense_Mutation SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 12 88472973 88472973 C T SNP CEP290 ENST00000309041 human ensembl 74_37 -1 known missense c.5266 p.E1756K 1.000 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 33 0 0 19 13 40.625 PZP 0 genome.wustl.edu 37 12 9356546 9356546 + Missense_Mutation SNP G G T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 12 9356546 9356546 G T SNP PZP ENST00000261336 human ensembl 74_37 -1 known missense c.85 p.Q29K 0.902 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors PZP HGNC ENSG00000126838 53 0 0 34 15 30.6122 NALCN 0 genome.wustl.edu 37 13 102051457 102051457 + Missense_Mutation SNP A A C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 13 102051457 102051457 A C SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.21 p.S7R 0.995 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 89 0 0 74 25 25.2525 ITGBL1 0 genome.wustl.edu 37 13 102231661 102231661 + Missense_Mutation SNP A A C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 13 102231661 102231661 A C SNP ITGBL1 ENST00000376180 human ensembl 74_37 +1 known missense c.610 p.N204H 1.000 pfam_EGF_extracell,smart_EG-like_dom pfam_EGF_extracell,smart_EG-like_dom - no_errors ITGBL1 HGNC ENSG00000198542 120 0 0 106 55 34.1615 C13orf35 0 genome.wustl.edu 37 13 113333721 113333721 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 13 113333721 113333721 G A SNP C13orf35 ENST00000356049 human ensembl 74_37 +1 putative missense c.28 p.V10I 0.001 NULL NULL - no_errors C13orf35 HGNC ENSG00000197595 37 0 0 25 20 44.4444 TPTE2 0 genome.wustl.edu 37 13 19997247 19997247 + Missense_Mutation SNP A A C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 13 19997247 19997247 A C SNP TPTE2 ENST00000382977 human ensembl 74_37 -1 known missense c.1524 p.I508M 0.629 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE2 HGNC ENSG00000132958 88 0 0 37 38 50.6667 PABPC3 0 genome.wustl.edu 37 13 25670425 25670425 + Missense_Mutation SNP A A C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 13 25670425 25670425 A C SNP PABPC3 ENST00000281589 human ensembl 74_37 +1 known missense c.89 p.K30T 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC3 HGNC ENSG00000151846 120 0 0 55 58 51.3274 GPR12 0 genome.wustl.edu 37 13 27333685 27333685 + Missense_Mutation SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 13 27333685 27333685 C T SNP GPR12 ENST00000381436 human ensembl 74_37 -1 known missense c.280 p.G94S 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR_3/6/12_orphan,prints_GPR12,prints_GPCR_Rhodpsn - no_errors GPR12 HGNC ENSG00000132975 98 0 0 82 23 21.9048 FRY 0 genome.wustl.edu 37 13 32776519 32776519 + Nonsense_Mutation SNP C C A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 13 32776519 32776519 C A SNP FRY ENST00000380250 human ensembl 74_37 +1 known nonsense c.3873 p.Y1291* 1.000 NULL superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 95 0 0 62 20 24.3902 NBEA 0 genome.wustl.edu 37 13 35770038 35770038 + Missense_Mutation SNP A A T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 13 35770038 35770038 A T SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.4965 p.K1655N 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 62 0 0 26 9 25.7143 PCDH17 0 genome.wustl.edu 37 13 58207010 58207010 + Silent SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 13 58207010 58207010 C T SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known silent c.330 p.A110 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 47 0 0 40 9 18.3673 EDNRB 0 genome.wustl.edu 37 13 78477425 78477425 + Missense_Mutation SNP C C A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 13 78477425 78477425 C A SNP EDNRB ENST00000334286 human ensembl 74_37 -1 known missense c.667 p.V223F 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt - no_errors EDNRB HGNC ENSG00000136160 169 0 0 129 30 18.8679 SLITRK6 0 genome.wustl.edu 37 13 86368406 86368406 + Missense_Mutation SNP A A C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 13 86368406 86368406 A C SNP SLITRK6 ENST00000400286 human ensembl 74_37 -1 known missense c.2238 p.F746L 0.399 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK6 HGNC ENSG00000184564 200 0 0 77 108 58.3784 ABCC4 0 genome.wustl.edu 37 13 95822845 95822845 + Silent SNP A A G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 13 95822845 95822845 A G SNP ABCC4 ENST00000376887 human ensembl 74_37 -1 known silent c.1765 p.L589 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM - no_errors ABCC4 HGNC ENSG00000125257 32 0 0 28 10 26.3158 AHNAK2 0 genome.wustl.edu 37 14 105409788 105409788 + Silent SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 14 105409788 105409788 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.12000 p.A4000 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 268 0 0 129 81 38.5714 MYH7 0 genome.wustl.edu 37 14 23884900 23884900 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 14 23884900 23884900 G A SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known missense c.5095 p.R1699W 0.812 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 128 0 0 55 24 30.3797 MYH7 0 genome.wustl.edu 37 14 23902875 23902875 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 14 23902875 23902875 G A SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known missense c.67 p.R23W 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 60 0 0 33 17 34 NPAS3 0 genome.wustl.edu 37 14 34269604 34269604 + Silent SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 14 34269604 34269604 C T SNP NPAS3 ENST00000356141 human ensembl 74_37 +1 known silent c.2091 p.G697 0.745 NULL pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors NPAS3 HGNC ENSG00000151322 72 0 0 45 21 31.8182 TRMT5 0 genome.wustl.edu 37 14 61446243 61446243 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 14 61446243 61446243 G A SNP TRMT5 ENST00000261249 human ensembl 74_37 -1 known missense c.373 p.R125C 1.000 NULL pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors TRMT5 HGNC ENSG00000126814 150 0 0 75 34 31.1927 SLC24A5 0 genome.wustl.edu 37 15 48426649 48426649 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 15 48426649 48426649 G A SNP SLC24A5 ENST00000341459 human ensembl 74_37 +1 known missense c.403 p.G135R 1.000 pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A5 HGNC ENSG00000188467 110 0 0 50 15 23.0769 DUT 0 genome.wustl.edu 37 15 48633667 48633667 + Nonsense_Mutation SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 15 48633667 48633667 C T SNP DUT ENST00000559935 human ensembl 74_37 +1 putative nonsense c.388 p.R130* 0.000 NULL pfam_dUTP_pyroPase,tigrfam_dUTP_pyroPase_sf - no_errors DUT HGNC ENSG00000128951 29 0 0 14 4 22.2222 MYO5C 0 genome.wustl.edu 37 15 52536688 52536688 + Missense_Mutation SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 15 52536688 52536688 C T SNP MYO5C ENST00000261839 human ensembl 74_37 -1 known missense c.2255 p.R752Q 0.998 superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5C HGNC ENSG00000128833 57 0 0 29 12 29.2683 UNC13C 0 genome.wustl.edu 37 15 54306146 54306146 + Nonsense_Mutation SNP C C A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 15 54306146 54306146 C A SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known nonsense c.1046 p.S349* 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 35 0 0 14 9 39.1304 POLR2M 0 genome.wustl.edu 37 15 58001341 58001341 + Silent SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 15 58001341 58001341 G A SNP POLR2M ENST00000299638 human ensembl 74_37 +1 known silent c.543 p.A181 0.275 NULL NULL - no_errors POLR2M HGNC ENSG00000255529 60 0 0 42 3 6.66667 CYP1A1 0 genome.wustl.edu 37 15 75013664 75013664 + Splice_Site SNP C C A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 15 75013664 75013664 C A SNP CYP1A1 ENST00000379727 human ensembl 74_37 -1 known splice_site c.1043-1 e4-1 1.000 - - - no_errors CYP1A1 HGNC ENSG00000140465 72 0 0 23 17 42.5 ACSBG1 0 genome.wustl.edu 37 15 78486305 78486305 + Missense_Mutation SNP A A G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 15 78486305 78486305 A G SNP ACSBG1 ENST00000258873 human ensembl 74_37 -1 known missense c.511 p.F171L 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSBG1 HGNC ENSG00000103740 54 0 0 32 14 30.4348 UNC45A 0 genome.wustl.edu 37 15 91492615 91492615 + Missense_Mutation SNP T T A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 15 91492615 91492615 T A SNP UNC45A ENST00000418476 human ensembl 74_37 +1 known missense c.1948 p.C650S 0.999 superfamily_ARM-type_fold pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UNC45A HGNC ENSG00000140553 62 0 0 24 25 51.0204 AHSP 0 genome.wustl.edu 37 16 31539797 31539797 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 16 31539797 31539797 G A SNP AHSP ENST00000302312 human ensembl 74_37 +1 known missense c.94 p.V32I 0.000 pfam_A_Hb_stabilising_prot,superfamily_A_Hb_stabilising_prot pfam_A_Hb_stabilising_prot,superfamily_A_Hb_stabilising_prot - no_errors AHSP HGNC ENSG00000169877 60 0 0 26 16 38.0952 NME4 0 genome.wustl.edu 37 16 449632 449632 + Nonsense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 16 449632 449632 G A SNP NME4 ENST00000444498 human ensembl 74_37 +1 known nonsense c.333 p.W111* 1.000 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase - no_errors NME4 HGNC ENSG00000103202 129 0 0 85 35 29.1667 MMP2 0 genome.wustl.edu 37 16 55523720 55523720 + Silent SNP C C A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 16 55523720 55523720 C A SNP MMP2 ENST00000219070 human ensembl 74_37 +1 known silent c.1164 p.G388 1.000 pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A - no_errors MMP2 HGNC ENSG00000087245 36 0 0 13 12 48 SLC9A5 0 genome.wustl.edu 37 16 67292311 67292311 + Silent SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 16 67292311 67292311 C T SNP SLC9A5 ENST00000299798 human ensembl 74_37 +1 known silent c.1587 p.Y529 1.000 tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A5 HGNC ENSG00000135740 87 0 0 61 27 30.6818 ADAMTS18 0 genome.wustl.edu 37 16 77401565 77401565 + Missense_Mutation SNP A A G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 16 77401565 77401565 A G SNP ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known missense c.551 p.L184P 0.990 pfam_Peptidase_M12B_N pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS18 HGNC ENSG00000140873 98 0 0 45 16 26.2295 CBFA2T3 0 genome.wustl.edu 37 16 88951469 88951469 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 16 88951469 88951469 G A SNP CBFA2T3 ENST00000268679 human ensembl 74_37 -1 known missense c.1102 p.R368C 1.000 NULL pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG16 - no_errors CBFA2T3 HGNC ENSG00000129993 43 0 0 28 10 26.3158 MYH13 0 genome.wustl.edu 37 17 10213113 10213113 + Missense_Mutation SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 17 10213113 10213113 C T SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known missense c.4691 p.R1564H 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 13 0 0 3 4 57.1429 MYH3 0 genome.wustl.edu 37 17 10546195 10546195 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 17 10546195 10546195 G A SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known missense c.1529 p.T510M 0.100 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 241 0 0 125 61 32.7957 WFIKKN2 0 genome.wustl.edu 37 17 48917415 48917415 + Missense_Mutation SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 17 48917415 48917415 C T SNP WFIKKN2 ENST00000311378 human ensembl 74_37 +1 known missense c.766 p.R256W 0.911 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Netrin_module_non-TIMP,pfam_WAP-type_4-diS_core,pfam_Kazal_dom,pfam_Ig_V-set,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Prot_inh_Kunz-m - no_errors WFIKKN2 HGNC ENSG00000173714 93 0 0 13 41 75.9259 EVPL 0 genome.wustl.edu 37 17 74003216 74003216 + Missense_Mutation SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 17 74003216 74003216 C T SNP EVPL ENST00000301607 human ensembl 74_37 -1 known missense c.6070 p.A2024T 0.570 NULL pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 41 0 0 5 15 75 CTC1 0 genome.wustl.edu 37 17 8138431 8138431 + Missense_Mutation SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 17 8138431 8138431 C T SNP CTC1 ENST00000315684 human ensembl 74_37 -1 known missense c.1379 p.R460H 0.048 NULL NULL - no_errors CTC1 HGNC ENSG00000178971 86 0 0 43 30 41.0959 SETBP1 0 genome.wustl.edu 37 18 42532286 42532286 + Missense_Mutation SNP A A G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 18 42532286 42532286 A G SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known missense c.2981 p.Y994C 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 195 0 0 82 41 33.3333 RNF165 0 genome.wustl.edu 37 18 44013249 44013249 + Missense_Mutation SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 18 44013249 44013249 C T SNP RNF165 ENST00000269439 human ensembl 74_37 +1 known missense c.158 p.P53L 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF165 HGNC ENSG00000141622 20 0 0 13 5 27.7778 KATNAL2 0 genome.wustl.edu 37 18 44579379 44579379 + Missense_Mutation SNP A A G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 18 44579379 44579379 A G SNP KATNAL2 ENST00000245121 human ensembl 74_37 +1 known missense c.35 p.Q12R 1.000 NULL pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors KATNAL2 HGNC ENSG00000167216 168 0 0 78 37 32.1739 CDH19 0 genome.wustl.edu 37 18 64172394 64172394 + Missense_Mutation SNP C C G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 18 64172394 64172394 C G SNP CDH19 ENST00000262150 human ensembl 74_37 -1 known missense c.1974 p.E658D 0.759 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH19 HGNC ENSG00000071991 173 0 0 71 38 34.8624 ZNF236 0 genome.wustl.edu 37 18 74611017 74611017 + Missense_Mutation SNP G G T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 18 74611017 74611017 G T SNP ZNF236 ENST00000253159 human ensembl 74_37 +1 known missense c.1727 p.R576L 0.993 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 82 0 0 41 21 33.871 PRKACA 0 genome.wustl.edu 37 19 14211688 14211688 + Nonsense_Mutation SNP G G C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 19 14211688 14211688 G C SNP PRKACA ENST00000308677 human ensembl 74_37 -1 known nonsense c.369 p.Y123* 0.883 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKACA HGNC ENSG00000072062 100 0 0 55 26 32.0988 AKAP8L 0 genome.wustl.edu 37 19 15514445 15514445 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 19 15514445 15514445 G A SNP AKAP8L ENST00000397410 human ensembl 74_37 -1 known missense c.203 p.S68F 1.000 NULL pfam_AKAP95 - no_errors AKAP8L HGNC ENSG00000011243 39 0 0 8 6 42.8571 ZNF98 0 genome.wustl.edu 37 19 22575670 22575670 + Missense_Mutation SNP T T C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 19 22575670 22575670 T C SNP ZNF98 ENST00000357774 human ensembl 74_37 -1 known missense c.367 p.R123G 0.080 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF98 HGNC ENSG00000197360 34 0 0 17 7 29.1667 ZNF730 0 genome.wustl.edu 37 19 23318765 23318765 + Missense_Mutation SNP A A T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 19 23318765 23318765 A T SNP ZNF730 ENST00000597761 human ensembl 74_37 +1 known missense c.146 p.K49M 0.017 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF730 HGNC ENSG00000183850 102 0 0 34 27 44.2623 TLE6 0 genome.wustl.edu 37 19 2987154 2987154 + Nonsense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 19 2987154 2987154 G A SNP TLE6 ENST00000246112 human ensembl 74_37 +1 known nonsense c.459 p.W153* 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE6 HGNC ENSG00000104953 128 0 0 48 38 44.186 GNA15 0 genome.wustl.edu 37 19 3151732 3151732 + Silent SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 19 3151732 3151732 C T SNP GNA15 ENST00000262958 human ensembl 74_37 +1 known silent c.513 p.T171 0.001 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q - no_errors GNA15 HGNC ENSG00000060558 177 0 0 106 42 28.3784 SLC7A10 0 genome.wustl.edu 37 19 33706710 33706710 + Silent SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 19 33706710 33706710 G A SNP SLC7A10 ENST00000253188 human ensembl 74_37 -1 known silent c.321 p.Y107 0.987 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A10 HGNC ENSG00000130876 11 0 0 4 3 42.8571 KIRREL2 0 genome.wustl.edu 37 19 36349663 36349663 + Missense_Mutation SNP T T G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 19 36349663 36349663 T G SNP KIRREL2 ENST00000360202 human ensembl 74_37 +1 known missense c.419 p.V140G 0.927 pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL2 HGNC ENSG00000126259 102 0 0 45 27 37.5 HNRNPL 0 genome.wustl.edu 37 19 39329153 39329153 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 19 39329153 39329153 G A SNP HNRNPL ENST00000221419 human ensembl 74_37 -1 known missense c.1441 p.R481W 0.793 tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors HNRNPL HGNC ENSG00000104824 53 0 0 17 18 51.4286 DMRTC2 0 genome.wustl.edu 37 19 42351523 42351523 + Silent SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 19 42351523 42351523 C T SNP DMRTC2 ENST00000269945 human ensembl 74_37 +1 known silent c.27 p.G9 0.031 NULL pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRTC2 HGNC ENSG00000142025 197 0 0 115 46 28.5714 CLPTM1 0 genome.wustl.edu 37 19 45493786 45493786 + Silent SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 19 45493786 45493786 C T SNP CLPTM1 ENST00000337392 human ensembl 74_37 +1 known silent c.1266 p.S422 1.000 pfam_CLPTM1 pfam_CLPTM1 - no_errors CLPTM1 HGNC ENSG00000104853 93 0 0 52 31 37.3494 PLA2G4C 0 genome.wustl.edu 37 19 48558299 48558299 + Missense_Mutation SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 19 48558299 48558299 C T SNP PLA2G4C ENST00000599111 human ensembl 74_37 -1 known missense c.1295 p.R432Q 0.977 superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4C HGNC ENSG00000105499 80 0 0 53 25 32.0513 TMEM143 0 genome.wustl.edu 37 19 48845855 48845855 + Missense_Mutation SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 19 48845855 48845855 C T SNP TMEM143 ENST00000293261 human ensembl 74_37 -1 known missense c.907 p.D303N 0.987 pfam_DUF3754 pfam_DUF3754 - no_errors TMEM143 HGNC ENSG00000161558 36 0 0 29 12 29.2683 UHRF1 0 genome.wustl.edu 37 19 4947157 4947157 + RNA SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 19 4947157 4947157 G A SNP UHRF1 ENST00000262952 human ensembl 74_37 +1 known rna NULL NULL 0.982 - - - no_errors UHRF1 HGNC ENSG00000034063 158 0 0 72 38 34.5455 FUZ 0 genome.wustl.edu 37 19 50315901 50315901 + Silent SNP C C A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 19 50315901 50315901 C A SNP FUZ ENST00000313777 human ensembl 74_37 -1 known silent c.204 p.T68 0.157 NULL NULL - no_errors FUZ HGNC ENSG00000010361 88 0 0 48 28 36.8421 SIGLEC7 0 genome.wustl.edu 37 19 51647694 51647694 + Silent SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 19 51647694 51647694 C T SNP SIGLEC7 ENST00000317643 human ensembl 74_37 +1 known silent c.465 p.P155 0.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC7 HGNC ENSG00000168995 224 0 0 125 69 35.567 LENG9 0 genome.wustl.edu 37 19 54973332 54973332 + Silent SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 19 54973332 54973332 G A SNP LENG9 ENST00000333834 human ensembl 74_37 -1 known silent c.1444 p.L482 1.000 superfamily_RNA_ligase/cNuc_Pdiesterase superfamily_RNA_ligase/cNuc_Pdiesterase,smart_Znf_CCCH - no_errors LENG9 HGNC ENSG00000182909 101 0 0 37 26 41.2698 NLRP13 0 genome.wustl.edu 37 19 56443500 56443500 + Missense_Mutation SNP A A T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 19 56443500 56443500 A T SNP NLRP13 ENST00000342929 human ensembl 74_37 -1 known missense c.178 p.L60M 0.000 pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP13 HGNC ENSG00000173572 99 0 0 31 18 36.7347 ZNF548 0 genome.wustl.edu 37 19 57910652 57910652 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 19 57910652 57910652 G A SNP ZNF548 ENST00000336128 human ensembl 74_37 +1 known missense c.1033 p.G345R 0.921 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF548 HGNC ENSG00000188785 73 0 0 37 14 27.451 ZSCAN1 0 genome.wustl.edu 37 19 58549267 58549267 + Missense_Mutation SNP G G T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 19 58549267 58549267 G T SNP ZSCAN1 ENST00000282326 human ensembl 74_37 +1 known missense c.63 p.E21D 0.000 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN1 HGNC ENSG00000152467 8 0 0 7 10 58.8235 MAP2K7 0 genome.wustl.edu 37 19 7976183 7976183 + Missense_Mutation SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 19 7976183 7976183 C T SNP MAP2K7 ENST00000545011 human ensembl 74_37 +1 known missense c.1030 p.R344W 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 MAP2K7 HGNC ENSG00000076984 93 0 0 62 47 43.1193 POU3F3 0 genome.wustl.edu 37 2 105473362 105473362 + Missense_Mutation SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 2 105473362 105473362 C T SNP POU3F3 ENST00000361360 human ensembl 74_37 +1 known missense c.1394 p.T465M 1.000 superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Transcription_factor_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F3 HGNC ENSG00000198914 54 0 0 23 16 41.0256 AMER3 0 genome.wustl.edu 37 2 131520154 131520154 + Missense_Mutation SNP A A C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 2 131520154 131520154 A C SNP AMER3 ENST00000321420 human ensembl 74_37 +1 known missense c.509 p.K170T 0.994 pfam_Uncharacterised_FAM123 pfam_Uncharacterised_FAM123 - no_errors AMER3 HGNC ENSG00000178171 99 0 0 47 21 30.8824 NCKAP5 0 genome.wustl.edu 37 2 133540806 133540806 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 2 133540806 133540806 G A SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known missense c.3578 p.S1193F 0.000 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 34 0 0 20 9 31.0345 LRP1B 0 genome.wustl.edu 37 2 141643706 141643706 + Splice_Site SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 2 141643706 141643706 C T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known splice_site c.3964+1 e24+1 1.000 - - - no_errors LRP1B HGNC ENSG00000168702 56 0 0 17 5 22.7273 ARL5A 0 genome.wustl.edu 37 2 152670787 152670787 + Missense_Mutation SNP T T C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 2 152670787 152670787 T C SNP ARL5A ENST00000295087 human ensembl 74_37 -1 known missense c.151 p.N51D 1.000 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL5A HGNC ENSG00000162980 104 0 0 44 24 35.2941 SCN2A 0 genome.wustl.edu 37 2 166188040 166188040 + Missense_Mutation SNP A A G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 2 166188040 166188040 A G SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.2350 p.T784A 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 85 0 0 29 24 45.283 SCN2A 0 genome.wustl.edu 37 2 166245742 166245742 + Missense_Mutation SNP C C A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 2 166245742 166245742 C A SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.5426 p.A1809E 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 130 0 0 47 27 36.4865 METAP1D 0 genome.wustl.edu 37 2 172942524 172942524 + Splice_Site SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 2 172942524 172942524 G A SNP METAP1D ENST00000315796 human ensembl 74_37 +1 known splice_site c.705-1 e7-1 1.000 - - - no_errors METAP1D HGNC ENSG00000172878 49 0 0 21 11 34.375 TTN 0 genome.wustl.edu 37 2 179463590 179463590 + Missense_Mutation SNP T T G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 2 179463590 179463590 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.49143 p.K16381N 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 138 0 0 48 40 45.4545 TTN 0 genome.wustl.edu 37 2 179464440 179464440 + Nonsense_Mutation SNP C C A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 2 179464440 179464440 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known nonsense c.48484 p.E16162* 0.813 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 124 0 0 31 32 50.7937 TTN 0 genome.wustl.edu 37 2 179466867 179466867 + Missense_Mutation SNP T T G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 2 179466867 179466867 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.47427 p.E15809D 0.999 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 47 0 0 27 8 22.8571 TTN 0 genome.wustl.edu 37 2 179604389 179604389 + Missense_Mutation SNP A A C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 2 179604389 179604389 A C SNP TTN ENST00000342175 human ensembl 74_37 -1 known missense c.13058 p.V4353G 0.031 superfamily_RNaseH-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,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 87 0 0 24 20 45.4545 RFTN2 0 genome.wustl.edu 37 2 198436900 198436900 + Silent SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 2 198436900 198436900 C T SNP RFTN2 ENST00000295049 human ensembl 74_37 -1 known silent c.1338 p.L446 0.000 NULL NULL - no_errors RFTN2 HGNC ENSG00000162944 145 0 0 74 38 33.9286 EEF1B2 0 genome.wustl.edu 37 2 207025358 207025358 + Missense_Mutation SNP A A G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 2 207025358 207025358 A G SNP EEF1B2 ENST00000236957 human ensembl 74_37 +1 known missense c.127 p.S43G 0.076 superfamily_Glutathione-S-Trfase_C-like pfam_Transl_elong_fac_EF1B_bsu/dsu,pfam_EF-1_beta_acid_region_euk,superfamily_Transl_elong_fac_EF1B_bsu/dsu,superfamily_Glutathione-S-Trfase_C-like,smart_Transl_elong_fac_EF1B_bsu/dsu - no_errors EEF1B2 HGNC ENSG00000114942 129 1 0.769231 95 5 5 MAP2 0 genome.wustl.edu 37 2 210557940 210557940 + Missense_Mutation SNP A A G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 2 210557940 210557940 A G SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known missense c.1046 p.D349G 0.244 NULL pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 48 0 0 23 8 25.8065 MYL1 0 genome.wustl.edu 37 2 211163261 211163261 + Missense_Mutation SNP C C A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 2 211163261 211163261 C A SNP MYL1 ENST00000352451 human ensembl 74_37 -1 known missense c.187 p.D63Y 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MYL1 HGNC ENSG00000168530 60 0 0 22 15 40.5405 ERBB4 0 genome.wustl.edu 37 2 212285296 212285296 + Missense_Mutation SNP T T G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 2 212285296 212285296 T G SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.3005 p.K1002T 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Kinase-like_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 46 0 0 29 18 38.2979 CCDC108 0 genome.wustl.edu 37 2 219884406 219884406 + Missense_Mutation SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 2 219884406 219884406 C T SNP CCDC108 ENST00000341552 human ensembl 74_37 -1 known missense c.3295 p.V1099I 0.062 NULL superfamily_PapD-like,pfscan_MSP_dom - no_errors CCDC108 HGNC ENSG00000181378 58 0 0 37 15 28.8462 SLC16A14 0 genome.wustl.edu 37 2 230911275 230911275 + Silent SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 2 230911275 230911275 C T SNP SLC16A14 ENST00000295190 human ensembl 74_37 -1 known silent c.567 p.R189 0.017 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A14 HGNC ENSG00000163053 141 1 0.704225 84 37 30.5785 DGKD 0 genome.wustl.edu 37 2 234368840 234368840 + Missense_Mutation SNP G G C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 2 234368840 234368840 G C SNP DGKD ENST00000264057 human ensembl 74_37 +1 known missense c.2830 p.A944P 1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,pfam_Pleckstrin_homology,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKD HGNC ENSG00000077044 132 0 0 63 32 33.6842 MSL3P1 0 genome.wustl.edu 37 2 234774909 234774909 + RNA SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 2 234774909 234774909 C T SNP MSL3P1 ENST00000438684 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MSL3P1 HGNC ENSG00000224287 65 0 0 11 11 50 KIF3C 0 genome.wustl.edu 37 2 26174662 26174662 + Missense_Mutation SNP C C A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 2 26174662 26174662 C A SNP KIF3C ENST00000264712 human ensembl 74_37 -1 known missense c.2002 p.G668C 0.999 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3C HGNC ENSG00000084731 46 0 0 25 13 34.2105 SNX17 0 genome.wustl.edu 37 2 27596742 27596742 + Missense_Mutation SNP C C A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 2 27596742 27596742 C A SNP SNX17 ENST00000453453 human ensembl 74_37 +1 known missense c.143 p.S48Y 1.000 NULL NULL - no_errors SNX17 HGNC ENSG00000115234 53 0 0 30 8 21.0526 XDH 0 genome.wustl.edu 37 2 31560520 31560520 + Missense_Mutation SNP T T G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 2 31560520 31560520 T G SNP XDH ENST00000379416 human ensembl 74_37 -1 known missense c.3938 p.K1313T 0.699 superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu - no_errors XDH HGNC ENSG00000158125 162 0 0 96 58 37.6623 PLEKHH2 0 genome.wustl.edu 37 2 43991504 43991504 + Silent SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 2 43991504 43991504 G A SNP PLEKHH2 ENST00000282406 human ensembl 74_37 +1 known silent c.4296 p.K1432 1.000 pfscan_FERM_domain pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH2 HGNC ENSG00000152527 61 0 0 31 14 31.1111 NRXN1 0 genome.wustl.edu 37 2 51255157 51255157 + Silent SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 2 51255157 51255157 G A SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known silent c.255 p.R85 0.769 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 16 0 0 4 5 55.5556 UGP2 0 genome.wustl.edu 37 2 64112990 64112990 + Missense_Mutation SNP A A C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 2 64112990 64112990 A C SNP UGP2 ENST00000337130 human ensembl 74_37 +1 known missense c.843 p.E281D 1.000 pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr - no_errors UGP2 HGNC ENSG00000169764 61 0 0 25 21 45.6522 TGM6 0 genome.wustl.edu 37 20 2413156 2413156 + Missense_Mutation SNP A A C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 20 2413156 2413156 A C SNP TGM6 ENST00000202625 human ensembl 74_37 +1 known missense c.1988 p.Q663P 1.000 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM6 HGNC ENSG00000166948 89 0 0 70 29 29.2929 PYGB 0 genome.wustl.edu 37 20 25277034 25277034 + Missense_Mutation SNP T T C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 20 25277034 25277034 T C SNP PYGB ENST00000216962 human ensembl 74_37 +1 known missense c.2408 p.I803T 1.000 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGB HGNC ENSG00000100994 84 0 0 34 30 46.875 HCK 0 genome.wustl.edu 37 20 30671833 30671833 + Silent SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 20 30671833 30671833 G A SNP HCK ENST00000375852 human ensembl 74_37 +1 known silent c.669 p.V223 0.788 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors HCK HGNC ENSG00000101336 46 0 0 45 11 19.6429 BPIFB3 0 genome.wustl.edu 37 20 31652537 31652537 + Silent SNP G G T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 20 31652537 31652537 G T SNP BPIFB3 ENST00000375494 human ensembl 74_37 +1 known silent c.810 p.V270 0.996 superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB3 HGNC ENSG00000186190 82 0 0 92 28 23.3333 CNBD2 0 genome.wustl.edu 37 20 34568410 34568410 + Silent SNP C C A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 20 34568410 34568410 C A SNP CNBD2 ENST00000373973 human ensembl 74_37 +1 known silent c.273 p.I91 0.008 superfamily_cNMP-bd-like pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNBD2 HGNC ENSG00000149646 73 0 0 62 21 25.3012 R3HDML 0 genome.wustl.edu 37 20 42965828 42965828 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 20 42965828 42965828 G A SNP R3HDML ENST00000217043 human ensembl 74_37 +1 known missense c.31 p.A11T 0.904 NULL pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors R3HDML HGNC ENSG00000101074 83 0 0 68 26 27.6596 EPPIN-WFDC6 0 genome.wustl.edu 37 20 44171401 44171401 + Missense_Mutation SNP C C A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 20 44171401 44171401 C A SNP EPPIN-WFDC6 ENST00000504988 human ensembl 74_37 -1 known missense c.329 p.C110F 0.983 pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m pfam_Prot_inh_Kunz-m,pfam_WAP-type_4-diS_core,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors EPPIN-WFDC6 HGNC ENSG00000249139 124 0 0 91 24 20.8696 DDX27 0 genome.wustl.edu 37 20 47845288 47845288 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 20 47845288 47845288 G A SNP DDX27 ENST00000371764 human ensembl 74_37 +1 known missense c.836 p.R279H 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX27 HGNC ENSG00000124228 225 0 0 207 81 28.125 CBLN4 0 genome.wustl.edu 37 20 54573804 54573804 + Missense_Mutation SNP A A C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 20 54573804 54573804 A C SNP CBLN4 ENST00000064571 human ensembl 74_37 -1 known missense c.415 p.L139V 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN4 HGNC ENSG00000054803 49 0 0 33 15 31.25 CASS4 0 genome.wustl.edu 37 20 55027312 55027312 + Silent SNP T T C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 20 55027312 55027312 T C SNP CASS4 ENST00000360314 human ensembl 74_37 +1 known silent c.1080 p.S360 0.000 NULL pfam_Serine_rich,pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors CASS4 HGNC ENSG00000087589 65 0 0 57 28 32.9412 GNAS 0 genome.wustl.edu 37 20 57484421 57484421 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 20 57484421 57484421 G A SNP GNAS ENST00000354359 human ensembl 74_37 +1 known missense c.605 p.R202H 1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su - no_errors GNAS HGNC ENSG00000087460 67 0 0 38 15 28.3019 TPTE 0 genome.wustl.edu 37 21 10952949 10952949 + Missense_Mutation SNP T T G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 21 10952949 10952949 T G SNP TPTE ENST00000361285 human ensembl 74_37 -1 known missense c.248 p.K83T 0.020 NULL pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 72 0 0 35 17 32.6923 USP25 0 genome.wustl.edu 37 21 17203874 17203874 + Missense_Mutation SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 21 17203874 17203874 C T SNP USP25 ENST00000400183 human ensembl 74_37 +1 known missense c.1919 p.S640F 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Ubiquitin-int_motif,superfamily_UBA-like,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19/C67 - no_errors USP25 HGNC ENSG00000155313 121 0 0 38 32 45.7143 LINC00478 0 genome.wustl.edu 37 21 17566933 17566933 + RNA SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 21 17566933 17566933 C T SNP LINC00478 ENST00000419952 human ensembl 74_37 +1 known rna NULL NULL 0.640 - - - no_errors LINC00478 HGNC ENSG00000215386 85 0 0 36 16 30.7692 ADAMTS5 0 genome.wustl.edu 37 21 28315802 28315802 + Missense_Mutation SNP T T G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 21 28315802 28315802 T G SNP ADAMTS5 ENST00000284987 human ensembl 74_37 -1 known missense c.1302 p.E434D 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ENSG00000154736 38 0 0 23 9 28.125 TIAM1 0 genome.wustl.edu 37 21 32554783 32554783 + Missense_Mutation SNP C C A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 21 32554783 32554783 C A SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known missense c.2842 p.A948S 0.002 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 31 0 0 17 12 41.3793 CLDN5 0 genome.wustl.edu 37 22 19511730 19511730 + Missense_Mutation SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 22 19511730 19511730 C T SNP CLDN5 ENST00000403084 human ensembl 74_37 -1 known missense c.304 p.G102S 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin5 - no_errors CLDN5 HGNC ENSG00000184113 12 0 0 5 6 54.5455 GTPBP1 0 genome.wustl.edu 37 22 39112868 39112868 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 22 39112868 39112868 G A SNP GTPBP1 ENST00000216044 human ensembl 74_37 +1 known missense c.697 p.G233S 1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel - no_errors GTPBP1 HGNC ENSG00000100226 153 0 0 83 38 31.405 MEI1 0 genome.wustl.edu 37 22 42128329 42128329 + Missense_Mutation SNP T T A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 22 42128329 42128329 T A SNP MEI1 ENST00000401548 human ensembl 74_37 +1 known missense c.1177 p.F393I 0.322 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MEI1 HGNC ENSG00000167077 19 0 0 4 10 71.4286 IMPG2 0 genome.wustl.edu 37 3 100951720 100951720 + Missense_Mutation SNP T T G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 3 100951720 100951720 T G SNP IMPG2 ENST00000193391 human ensembl 74_37 -1 known missense c.3138 p.E1046D 0.991 pfscan_EG-like_dom pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG2 HGNC ENSG00000081148 93 0 0 46 23 33.3333 IMPG2 0 genome.wustl.edu 37 3 100951814 100951814 + Missense_Mutation SNP T T C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 3 100951814 100951814 T C SNP IMPG2 ENST00000193391 human ensembl 74_37 -1 known missense c.3044 p.K1015R 1.000 smart_SEA_dom,pfscan_EG-like_dom pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG2 HGNC ENSG00000081148 103 0 0 55 24 30.3797 STXBP5L 0 genome.wustl.edu 37 3 120959305 120959305 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 3 120959305 120959305 G A SNP STXBP5L ENST00000273666 human ensembl 74_37 +1 known missense c.1351 p.G451R 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5L HGNC ENSG00000145087 66 0 0 25 16 39.0244 CASR 0 genome.wustl.edu 37 3 121981095 121981095 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 3 121981095 121981095 G A SNP CASR ENST00000498619 human ensembl 74_37 +1 known missense c.1213 p.E405K 0.998 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors CASR HGNC ENSG00000036828 83 0 0 43 39 47.561 DTX3L 0 genome.wustl.edu 37 3 122288700 122288700 + Silent SNP A A G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 3 122288700 122288700 A G SNP DTX3L ENST00000296161 human ensembl 74_37 +1 known silent c.1764 p.K588 0.062 smart_Znf_RING,pfscan_Znf_RING smart_Znf_RING,pfscan_Znf_RING - no_errors DTX3L HGNC ENSG00000163840 240 0 0 98 70 41.6667 COL6A5 0 genome.wustl.edu 37 3 130095505 130095505 + Missense_Mutation SNP A A C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 3 130095505 130095505 A C SNP COL6A5 ENST00000265379 human ensembl 74_37 +1 known missense c.493 p.I165L 0.502 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 16 0 0 4 6 60 NPHP3 0 genome.wustl.edu 37 3 132440855 132440855 + Silent SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 3 132440855 132440855 G A SNP NPHP3 ENST00000337331 human ensembl 74_37 -1 known silent c.345 p.R115 0.999 NULL pfam_TPR_1,pfam_TPR-3,superfamily_P-loop_NTPase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NPHP3 HGNC ENSG00000113971 44 0 0 24 15 38.4615 IL20RB 0 genome.wustl.edu 37 3 136708318 136708318 + Missense_Mutation SNP G G T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 3 136708318 136708318 G T SNP IL20RB ENST00000329582 human ensembl 74_37 +1 known missense c.442 p.D148Y 0.966 NULL pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL20RB HGNC ENSG00000174564 70 0 0 34 18 34.6154 KNG1 0 genome.wustl.edu 37 3 186459365 186459365 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 3 186459365 186459365 G A SNP KNG1 ENST00000265023 human ensembl 74_37 +1 known missense c.1180 p.G394R 0.000 NULL pfam_Prot_inh_cystat,smart_Prot_inh_cystat,prints_Kininogen - no_errors KNG1 HGNC ENSG00000113889 66 0 0 27 17 38.6364 CLDN16 0 genome.wustl.edu 37 3 190127744 190127744 + Silent SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 3 190127744 190127744 C T SNP CLDN16 ENST00000264734 human ensembl 74_37 +1 known silent c.837 p.A279 0.000 NULL pfam_PMP22/EMP/MP20/Claudin,prints_Claudin16,prints_Claudin - no_errors CLDN16 HGNC ENSG00000113946 66 0 0 32 22 40.7407 CPN2 0 genome.wustl.edu 37 3 194063146 194063146 + Silent SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 3 194063146 194063146 G A SNP CPN2 ENST00000323830 human ensembl 74_37 -1 known silent c.286 p.L96 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors CPN2 HGNC ENSG00000178772 104 0 0 63 4 5.97015 TMEM44 0 genome.wustl.edu 37 3 194344003 194344003 + Missense_Mutation SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 3 194344003 194344003 C T SNP TMEM44 ENST00000392432 human ensembl 74_37 -1 known missense c.562 p.V188I 0.008 NULL NULL - no_errors TMEM44 HGNC ENSG00000145014 24 0 0 16 6 27.2727 RARB 0 genome.wustl.edu 37 3 25502784 25502784 + Missense_Mutation SNP C C A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 3 25502784 25502784 C A SNP RARB ENST00000404969 human ensembl 74_37 +1 known missense c.279 p.D93E 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARB HGNC ENSG00000077092 109 0 0 48 29 37.6623 SCN5A 0 genome.wustl.edu 37 3 38651271 38651271 + Silent SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 3 38651271 38651271 G A SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known silent c.888 p.A296 0.018 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 60 0 0 28 23 45.098 CTNNB1 0 genome.wustl.edu 37 3 41266113 41266113 + Missense_Mutation SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 3 41266113 41266113 C T SNP CTNNB1 ENST00000349496 human ensembl 74_37 +1 known missense c.110 p.S37F 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC ENSG00000168036 59 0 0 16 14 46.6667 LYZL4 0 genome.wustl.edu 37 3 42448674 42448674 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 3 42448674 42448674 G A SNP LYZL4 ENST00000287748 human ensembl 74_37 -1 known missense c.70 p.R24C 0.932 pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys - no_errors LYZL4 HGNC ENSG00000157093 56 0 0 27 9 25 SETD2 0 genome.wustl.edu 37 3 47162959 47162959 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 3 47162959 47162959 G A SNP SETD2 ENST00000409792 human ensembl 74_37 -1 known missense c.3167 p.S1056L 1.000 NULL pfam_SRI,pfam_SET_dom,pfam_WW_dom,superfamily_WW_dom,superfamily_Ferritin-like_SF,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_dom,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_dom - no_errors SETD2 HGNC ENSG00000181555 129 0 0 56 19 25.3333 MST1 0 genome.wustl.edu 37 3 49722748 49722748 + Silent SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 3 49722748 49722748 G A SNP MST1 ENST00000449682 human ensembl 74_37 -1 known silent c.1491 p.R497 0.020 superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1 pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors MST1 HGNC ENSG00000173531 46 0 0 34 14 29.1667 FOXP1 0 genome.wustl.edu 37 3 71021749 71021749 + Missense_Mutation SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 3 71021749 71021749 C T SNP FOXP1 ENST00000318789 human ensembl 74_37 -1 known missense c.1609 p.D537N 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXP1 HGNC ENSG00000114861 110 0 0 57 28 32.9412 GRM7 0 genome.wustl.edu 37 3 7721971 7721971 + Missense_Mutation SNP T T C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 3 7721971 7721971 T C SNP GRM7 ENST00000402647 human ensembl 74_37 +1 known missense c.2687 p.V896A 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM7 HGNC ENSG00000196277 67 0 0 28 10 26.3158 ROBO1 0 genome.wustl.edu 37 3 78988057 78988057 + Missense_Mutation SNP C C A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 3 78988057 78988057 C A SNP ROBO1 ENST00000464233 human ensembl 74_37 -1 known missense c.193 p.D65Y 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO1 HGNC ENSG00000169855 83 0 0 40 18 31.0345 LHFPL4 0 genome.wustl.edu 37 3 9594297 9594297 + Missense_Mutation SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 3 9594297 9594297 C T SNP LHFPL4 ENST00000287585 human ensembl 74_37 -1 known missense c.67 p.G23S 1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL4 HGNC ENSG00000156959 91 0 0 59 26 30.5882 BANK1 0 genome.wustl.edu 37 4 102816478 102816478 + Missense_Mutation SNP T T G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 4 102816478 102816478 T G SNP BANK1 ENST00000322953 human ensembl 74_37 +1 known missense c.920 p.L307R 1.000 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors BANK1 HGNC ENSG00000153064 61 0 0 32 20 38.4615 ALPK1 0 genome.wustl.edu 37 4 113353573 113353573 + Missense_Mutation SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 4 113353573 113353573 C T SNP ALPK1 ENST00000177648 human ensembl 74_37 +1 known missense c.2870 p.S957F 0.810 NULL pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors ALPK1 HGNC ENSG00000073331 56 0 0 20 12 37.5 HSPA4L 0 genome.wustl.edu 37 4 128723071 128723071 + Missense_Mutation SNP A A C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 4 128723071 128723071 A C SNP HSPA4L ENST00000439123 human ensembl 74_37 +1 known missense c.754 p.K252Q 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA4L HGNC ENSG00000164070 49 0 0 24 9 27.2727 TTC29 0 genome.wustl.edu 37 4 147860992 147860992 + Missense_Mutation SNP C C G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 4 147860992 147860992 C G SNP TTC29 ENST00000398886 human ensembl 74_37 -1 known missense c.134 p.R45T 0.108 NULL smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC29 HGNC ENSG00000137473 33 0 0 17 10 37.037 ASIC5 0 genome.wustl.edu 37 4 156775374 156775374 + Missense_Mutation SNP T T G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 4 156775374 156775374 T G SNP ASIC5 ENST00000537611 human ensembl 74_37 -1 known missense c.440 p.N147T 0.022 pfam_Na+channel_ASC pfam_Na+channel_ASC,prints_Na+channel_ASC - no_errors ASIC5 HGNC ENSG00000256394 74 0 0 31 26 45.614 SPOCK3 0 genome.wustl.edu 37 4 167658647 167658647 + Missense_Mutation SNP C C A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 4 167658647 167658647 C A SNP SPOCK3 ENST00000357154 human ensembl 74_37 -1 known missense c.1112 p.G371V 1.000 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SPOCK3 HGNC ENSG00000196104 243 0 0 145 67 31.6038 TRIML2 0 genome.wustl.edu 37 4 189012827 189012827 + Silent SNP T T C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 4 189012827 189012827 T C SNP TRIML2 ENST00000512729 human ensembl 74_37 -1 known silent c.864 p.K288 0.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors TRIML2 HGNC ENSG00000179046 241 0 0 125 51 28.9773 STK32B 0 genome.wustl.edu 37 4 5500795 5500795 + Silent SNP T T G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 4 5500795 5500795 T G SNP STK32B ENST00000282908 human ensembl 74_37 +1 known silent c.1230 p.R410 0.041 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK32B HGNC ENSG00000152953 50 0 0 22 12 35.2941 KDR 0 genome.wustl.edu 37 4 55972913 55972913 + Nonsense_Mutation SNP C C A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 4 55972913 55972913 C A SNP KDR ENST00000263923 human ensembl 74_37 -1 known nonsense c.1477 p.G493* 0.996 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR2_rcpt - no_errors KDR HGNC ENSG00000128052 52 0 0 23 14 37.8378 KDR 0 genome.wustl.edu 37 4 55972914 55972914 + Missense_Mutation SNP C C A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 4 55972914 55972914 C A SNP KDR ENST00000263923 human ensembl 74_37 -1 known missense c.1476 p.Q492H 0.949 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR2_rcpt - no_errors KDR HGNC ENSG00000128052 53 0 0 25 14 35.8974 KDR 0 genome.wustl.edu 37 4 55979497 55979497 + Missense_Mutation SNP T T G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 4 55979497 55979497 T G SNP KDR ENST00000263923 human ensembl 74_37 -1 known missense c.950 p.K317T 0.002 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR2_rcpt - no_errors KDR HGNC ENSG00000128052 176 0 0 84 51 37.7778 KDR 0 genome.wustl.edu 37 4 55979622 55979622 + Silent SNP T T C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 4 55979622 55979622 T C SNP KDR ENST00000263923 human ensembl 74_37 -1 known silent c.825 p.R275 0.957 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR2_rcpt - no_errors KDR HGNC ENSG00000128052 55 0 0 22 13 37.1429 LPHN3 0 genome.wustl.edu 37 4 62800631 62800631 + Missense_Mutation SNP A A C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 4 62800631 62800631 A C SNP LPHN3 ENST00000507625 human ensembl 74_37 +1 known missense c.2186 p.D729A 1.000 pfam_DUF3497 pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 53 0 0 36 15 29.4118 UGT2B11 0 genome.wustl.edu 37 4 70079727 70079727 + Missense_Mutation SNP T T G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 4 70079727 70079727 T G SNP UGT2B11 ENST00000446444 human ensembl 74_37 -1 known missense c.714 p.E238D 0.994 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B11 HGNC ENSG00000213759 46 0 0 28 10 26.3158 ART3 0 genome.wustl.edu 37 4 77003532 77003532 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 4 77003532 77003532 G A SNP ART3 ENST00000355810 human ensembl 74_37 +1 known missense c.625 p.V209I 0.115 pfam_ART,prints_ART pfam_ART,prints_ART - no_errors ART3 HGNC ENSG00000156219 43 0 0 22 12 35.2941 APC 0 genome.wustl.edu 37 5 112176358 112176358 + Silent SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 5 112176358 112176358 C T SNP APC ENST00000257430 human ensembl 74_37 +1 known silent c.5067 p.T1689 1.000 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 43 0 0 20 16 44.4444 KCNN2 0 genome.wustl.edu 37 5 113698926 113698926 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 5 113698926 113698926 G A SNP KCNN2 ENST00000264773 human ensembl 74_37 +1 known missense c.454 p.E152K 1.000 pfam_K_chnl_Ca-activ_SK pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN2 HGNC ENSG00000080709 23 0 0 14 6 30 PCDHB6 0 genome.wustl.edu 37 5 140530585 140530585 + Missense_Mutation SNP A A C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 5 140530585 140530585 A C SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known missense c.747 p.Q249H 0.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 43 0 0 16 9 36 PCDHB6 0 genome.wustl.edu 37 5 140531021 140531021 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 5 140531021 140531021 G A SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known missense c.1183 p.V395M 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 151 0 0 53 33 38.3721 DPYSL3 0 genome.wustl.edu 37 5 146780323 146780323 + Missense_Mutation SNP A A C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 5 146780323 146780323 A C SNP DPYSL3 ENST00000398514 human ensembl 74_37 -1 known missense c.1042 p.F348V 1.000 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL3 HGNC ENSG00000113657 110 0 0 55 29 34.5238 ANKH 0 genome.wustl.edu 37 5 14751213 14751213 + Missense_Mutation SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 5 14751213 14751213 C T SNP ANKH ENST00000284268 human ensembl 74_37 -1 known missense c.652 p.D218N 1.000 pfam_ANKH pfam_ANKH - no_errors ANKH HGNC ENSG00000154122 94 0 0 52 26 33.3333 GABRA1 0 genome.wustl.edu 37 5 161322857 161322857 + Missense_Mutation SNP A A C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 5 161322857 161322857 A C SNP GABRA1 ENST00000023897 human ensembl 74_37 +1 known missense c.1042 p.S348R 1.000 superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA1 HGNC ENSG00000022355 134 0 0 80 44 35.4839 HTR1A 0 genome.wustl.edu 37 5 63256846 63256846 + Missense_Mutation SNP T T C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 5 63256846 63256846 T C SNP HTR1A ENST00000323865 human ensembl 74_37 -1 known missense c.701 p.E234G 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt - no_errors HTR1A HGNC ENSG00000178394 127 0 0 66 35 34.6535 SPZ1 0 genome.wustl.edu 37 5 79616605 79616605 + Missense_Mutation SNP C C G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 5 79616605 79616605 C G SNP SPZ1 ENST00000296739 human ensembl 74_37 +1 known missense c.571 p.Q191E 0.045 NULL NULL - no_errors SPZ1 HGNC ENSG00000164299 58 0 0 36 3 7.69231 TAS2R1 0 genome.wustl.edu 37 5 9629560 9629560 + Missense_Mutation SNP C C A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 5 9629560 9629560 C A SNP TAS2R1 ENST00000382492 human ensembl 74_37 -1 known missense c.585 p.L195F 0.030 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R1 HGNC ENSG00000169777 66 0 0 23 13 36.1111 TFAP2A 0 genome.wustl.edu 37 6 10410495 10410495 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 6 10410495 10410495 G A SNP TFAP2A ENST00000379604 human ensembl 74_37 -1 known missense c.119 p.T40M 1.000 NULL pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_alpha_N - no_errors TFAP2A HGNC ENSG00000137203 57 0 0 31 16 34.0426 HACE1 0 genome.wustl.edu 37 6 105198250 105198250 + Missense_Mutation SNP G G C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 6 105198250 105198250 G C SNP HACE1 ENST00000262903 human ensembl 74_37 -1 known missense c.2309 p.P770R 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT,prints_Ankyrin_rpt - no_errors HACE1 HGNC ENSG00000085382 23 0 0 13 9 40.9091 LAMA4 0 genome.wustl.edu 37 6 112443347 112443347 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 6 112443347 112443347 G A SNP LAMA4 ENST00000230538 human ensembl 74_37 -1 known missense c.4345 p.R1449W 0.003 NULL pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA4 HGNC ENSG00000112769 66 0 0 35 12 25.5319 HIVEP1 0 genome.wustl.edu 37 6 12124724 12124724 + Missense_Mutation SNP G G T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 6 12124724 12124724 G T SNP HIVEP1 ENST00000379388 human ensembl 74_37 +1 known missense c.4696 p.V1566F 0.571 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 134 0 0 92 34 26.9841 EYA4 0 genome.wustl.edu 37 6 133789774 133789774 + Missense_Mutation SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 6 133789774 133789774 C T SNP EYA4 ENST00000355167 human ensembl 74_37 +1 known missense c.875 p.A292V 0.998 NULL pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA4 HGNC ENSG00000112319 138 0 0 79 38 32.4786 OLIG3 0 genome.wustl.edu 37 6 137815276 137815276 + Missense_Mutation SNP C C A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 6 137815276 137815276 C A SNP OLIG3 ENST00000367734 human ensembl 74_37 -1 known missense c.32 p.R11I 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors OLIG3 HGNC ENSG00000177468 113 0 0 56 37 39.7849 VTA1 0 genome.wustl.edu 37 6 142519579 142519579 + Missense_Mutation SNP T T C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 6 142519579 142519579 T C SNP VTA1 ENST00000367630 human ensembl 74_37 +1 known missense c.524 p.I175T 0.803 NULL NULL - no_errors VTA1 HGNC ENSG00000009844 57 0 0 15 14 48.2759 SYNE1 0 genome.wustl.edu 37 6 152545633 152545633 + Missense_Mutation SNP A A C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 6 152545633 152545633 A C SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.21518 p.L7173R 1.000 pfam_Spectrin_repeat,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 55 0 0 28 12 30 SYNE1 0 genome.wustl.edu 37 6 152557950 152557950 + Splice_Site SNP A A C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 6 152557950 152557950 A C SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known splice_site c.20199+2 e107+2 1.000 - - - no_errors SYNE1 HGNC ENSG00000131018 99 0 0 60 25 29.4118 SERAC1 0 genome.wustl.edu 37 6 158579374 158579374 + Missense_Mutation SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 6 158579374 158579374 C T SNP SERAC1 ENST00000367104 human ensembl 74_37 -1 known missense c.22 p.V8I 0.100 NULL pfam_PGAP1-like,superfamily_ARM-type_fold - no_errors SERAC1 HGNC ENSG00000122335 93 0 0 41 20 32.7869 MBOAT1 0 genome.wustl.edu 37 6 20118753 20118753 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 6 20118753 20118753 G A SNP MBOAT1 ENST00000324607 human ensembl 74_37 -1 known missense c.926 p.A309V 1.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors MBOAT1 HGNC ENSG00000172197 60 0 0 30 19 38.7755 MBOAT1 0 genome.wustl.edu 37 6 20118754 20118754 + Missense_Mutation SNP C C A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 6 20118754 20118754 C A SNP MBOAT1 ENST00000324607 human ensembl 74_37 -1 known missense c.925 p.A309S 1.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors MBOAT1 HGNC ENSG00000172197 60 0 0 30 19 38.7755 HLA-J 0 genome.wustl.edu 37 6 29974396 29974396 + RNA SNP C C A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 6 29974396 29974396 C A SNP HLA-J ENST00000462773 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors HLA-J HGNC ENSG00000204622 52 0 0 18 11 37.931 STK19 0 genome.wustl.edu 37 6 31940205 31940205 + Missense_Mutation SNP A A G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 6 31940205 31940205 A G SNP STK19 ENST00000375333 human ensembl 74_37 +1 known missense c.347 p.H116R 0.005 NULL pfam_Ser/Thr_kinase_19 - no_errors STK19 HGNC ENSG00000204344 99 0 0 49 37 43.0233 GRM4 0 genome.wustl.edu 37 6 33996118 33996118 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 6 33996118 33996118 G A SNP GRM4 ENST00000374181 human ensembl 74_37 -1 known missense c.2468 p.T823M 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B - no_errors GRM4 HGNC ENSG00000124493 140 0 0 64 43 40.1869 TBC1D22B 0 genome.wustl.edu 37 6 37252184 37252184 + Missense_Mutation SNP A A C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 6 37252184 37252184 A C SNP TBC1D22B ENST00000373491 human ensembl 74_37 +1 known missense c.745 p.I249L 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D22B HGNC ENSG00000065491 126 0 0 464 69 12.9456 DAAM2 0 genome.wustl.edu 37 6 39824160 39824160 + Missense_Mutation SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 6 39824160 39824160 C T SNP DAAM2 ENST00000274867 human ensembl 74_37 +1 known missense c.82 p.R28W 1.000 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DAAM2 HGNC ENSG00000146122 13 0 0 44 5 10.2041 B3GAT2 0 genome.wustl.edu 37 6 71603911 71603911 + Missense_Mutation SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 6 71603911 71603911 C T SNP B3GAT2 ENST00000230053 human ensembl 74_37 -1 known missense c.656 p.R219H 1.000 pfam_Glyco_trans_43 pfam_Glyco_trans_43 - no_errors B3GAT2 HGNC ENSG00000112309 107 0 0 42 23 35.3846 DOCK4 0 genome.wustl.edu 37 7 111638540 111638540 + Missense_Mutation SNP A A C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 7 111638540 111638540 A C SNP DOCK4 ENST00000428084 human ensembl 74_37 -1 known missense c.181 p.Y61D 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 16 0 0 3 6 66.6667 SMO 0 genome.wustl.edu 37 7 128846107 128846107 + Missense_Mutation SNP T T G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 7 128846107 128846107 T G SNP SMO ENST00000249373 human ensembl 74_37 +1 known missense c.1037 p.L346R 1.000 pfam_Frizzled,pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors SMO HGNC ENSG00000128602 169 1 0.588235 151 49 24.5 PLXNA4 0 genome.wustl.edu 37 7 131982975 131982975 + Missense_Mutation SNP C C A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 7 131982975 131982975 C A SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.1378 p.V460L 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 82 0 0 72 4 5.26316 VIPR2 0 genome.wustl.edu 37 7 158829446 158829446 + Missense_Mutation SNP A A C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 7 158829446 158829446 A C SNP VIPR2 ENST00000262178 human ensembl 74_37 -1 known missense c.745 p.W249G 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_VIP_rcpt_2,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt - no_errors VIPR2 HGNC ENSG00000106018 28 0 0 17 10 37.037 DNAH11 0 genome.wustl.edu 37 7 21677302 21677302 + Missense_Mutation SNP T T C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 7 21677302 21677302 T C SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.4814 p.L1605P 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 9 0 0 2 5 71.4286 NUPL2 0 genome.wustl.edu 37 7 23240344 23240344 + Silent SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 7 23240344 23240344 C T SNP NUPL2 ENST00000258742 human ensembl 74_37 +1 known silent c.1252 p.L418 0.002 NULL smart_Znf_CCCH - no_errors NUPL2 HGNC ENSG00000136243 43 0 0 31 6 16.2162 C7orf31 0 genome.wustl.edu 37 7 25175877 25175877 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 7 25175877 25175877 G A SNP C7orf31 ENST00000283905 human ensembl 74_37 -1 known missense c.1487 p.T496M 0.000 NULL NULL - no_errors C7orf31 HGNC ENSG00000153790 126 0 0 74 21 22.1053 CARD11 0 genome.wustl.edu 37 7 2953083 2953083 + Missense_Mutation SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 7 2953083 2953083 C T SNP CARD11 ENST00000396946 human ensembl 74_37 -1 known missense c.2857 p.E953K 1.000 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 50 0 0 31 16 34.0426 PKD1L1 0 genome.wustl.edu 37 7 47917177 47917177 + Silent SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 7 47917177 47917177 C T SNP PKD1L1 ENST00000289672 human ensembl 74_37 -1 known silent c.3573 p.P1191 0.001 pfam_PKD/REJ-like,pfscan_REJ-like pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 83 0 0 69 20 22.4719 PKD1L1 0 genome.wustl.edu 37 7 47920384 47920384 + Silent SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 7 47920384 47920384 C T SNP PKD1L1 ENST00000289672 human ensembl 74_37 -1 known silent c.3462 p.V1154 0.967 pfam_PKD/REJ-like,pfscan_REJ-like pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 95 0 0 95 28 22.7642 RADIL 0 genome.wustl.edu 37 7 4917307 4917307 + Missense_Mutation SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 7 4917307 4917307 C T SNP RADIL ENST00000399583 human ensembl 74_37 -1 known missense c.464 p.R155Q 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Dil_domain,pfam_Ras-assoc,pfam_PDZ,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors RADIL HGNC ENSG00000157927 81 0 0 45 48 51.6129 ZNF716 0 genome.wustl.edu 37 7 57528604 57528604 + Missense_Mutation SNP A A C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 7 57528604 57528604 A C SNP ZNF716 ENST00000420713 human ensembl 74_37 +1 known missense c.437 p.N146T 0.333 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF716 HGNC ENSG00000182111 16 0 0 7 9 56.25 ZNF273 0 genome.wustl.edu 37 7 64388201 64388201 + Silent SNP A A G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 7 64388201 64388201 A G SNP ZNF273 ENST00000476120 human ensembl 74_37 +1 known silent c.495 p.G165 0.002 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF273 HGNC ENSG00000198039 81 0 0 64 15 18.9873 ZNF853 0 genome.wustl.edu 37 7 6662336 6662336 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 7 6662336 6662336 G A SNP ZNF853 ENST00000457543 human ensembl 74_37 +1 known missense c.1714 p.G572R 0.009 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF853 HGNC ENSG00000236609 8 0 0 7 4 36.3636 CD36 0 genome.wustl.edu 37 7 80302141 80302141 + Missense_Mutation SNP A A G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 7 80302141 80302141 A G SNP CD36 ENST00000309881 human ensembl 74_37 +1 known missense c.1181 p.K394R 0.964 pfam_CD36 pfam_CD36,prints_CD36_antigen,prints_CD36 - no_errors CD36 HGNC ENSG00000135218 32 0 0 28 7 20 SEMA3C 0 genome.wustl.edu 37 7 80418758 80418758 + Silent SNP G G T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 7 80418758 80418758 G T SNP SEMA3C ENST00000544525 human ensembl 74_37 -1 known silent c.1272 p.L424 0.997 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Ig_I-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3C HGNC ENSG00000075223 74 0 0 64 18 21.9512 CACNA2D1 0 genome.wustl.edu 37 7 81603806 81603806 + Missense_Mutation SNP T T C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 7 81603806 81603806 T C SNP CACNA2D1 ENST00000356253 human ensembl 74_37 -1 known missense c.2054 p.E685G 1.000 NULL pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D1 HGNC ENSG00000153956 15 0 0 21 8 27.5862 CACNA2D1 0 genome.wustl.edu 37 7 81667395 81667395 + Missense_Mutation SNP T T G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 7 81667395 81667395 T G SNP CACNA2D1 ENST00000356253 human ensembl 74_37 -1 known missense c.1036 p.N346H 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D1 HGNC ENSG00000153956 84 0 0 38 43 53.0864 SUN1 0 genome.wustl.edu 37 7 894588 894588 + Missense_Mutation SNP A A C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 7 894588 894588 A C SNP SUN1 ENST00000456758 human ensembl 74_37 +1 known missense c.1862 p.E621A 0.005 NULL pfam_SUN1,pfam_Sad1_UNC_C - no_errors SUN1 HGNC ENSG00000164828 51 0 0 59 14 19.1781 C7orf63 0 genome.wustl.edu 37 7 89909173 89909173 + Silent SNP A A T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 7 89909173 89909173 A T SNP C7orf63 ENST00000389297 human ensembl 74_37 +1 known silent c.1338 p.R446 0.005 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors C7orf63 HGNC ENSG00000105792 100 0 0 75 27 26.4706 VPS13B 0 genome.wustl.edu 37 8 100205166 100205166 + Missense_Mutation SNP A A G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 8 100205166 100205166 A G SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.2396 p.Q799R 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 80 0 0 98 27 21.6 LRP12 0 genome.wustl.edu 37 8 105509626 105509626 + Missense_Mutation SNP T T G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 8 105509626 105509626 T G SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known missense c.1097 p.N366T 1.000 superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 80 0 0 111 25 18.3824 TBC1D31 0 genome.wustl.edu 37 8 124156991 124156991 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 8 124156991 124156991 G A SNP TBC1D31 ENST00000287380 human ensembl 74_37 +1 known missense c.2870 p.R957K 0.986 NULL pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom - no_errors TBC1D31 HGNC ENSG00000156787 23 0 0 13 10 43.4783 GML 0 genome.wustl.edu 37 8 143921919 143921919 + Silent SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 8 143921919 143921919 C T SNP GML ENST00000220940 human ensembl 74_37 +1 known silent c.66 p.R22 0.000 NULL smart_LY6_UPA_recep-like - no_errors GML HGNC ENSG00000104499 65 0 0 70 19 21.3483 GML 0 genome.wustl.edu 37 8 143928074 143928074 + Missense_Mutation SNP G G T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 8 143928074 143928074 G T SNP GML ENST00000220940 human ensembl 74_37 +1 known missense c.445 p.A149S 0.010 NULL smart_LY6_UPA_recep-like - no_errors GML HGNC ENSG00000104499 80 0 0 52 54 50.9434 MSR1 0 genome.wustl.edu 37 8 16001067 16001067 + Missense_Mutation SNP T T G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 8 16001067 16001067 T G SNP MSR1 ENST00000262101 human ensembl 74_37 -1 known missense c.1033 p.T345P 0.540 superfamily_Srcr_rcpt-rel pfam_SRCR,pfam_Macro_scav_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,superfamily_STAT_TF_coiled-coil,smart_Srcr_rcpt-rel,prints_Macro_scav_rcpt,prints_SRCR,pfscan_SRCR - no_errors MSR1 HGNC ENSG00000038945 64 0 0 15 37 71.1538 DLGAP2 0 genome.wustl.edu 37 8 1616573 1616573 + Missense_Mutation SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 8 1616573 1616573 C T SNP DLGAP2 ENST00000421627 human ensembl 74_37 +1 known missense c.1649 p.T550M 1.000 NULL pfam_GKAP - no_errors DLGAP2 HGNC ENSG00000198010 14 0 0 14 3 17.6471 GFRA2 0 genome.wustl.edu 37 8 21560406 21560406 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 8 21560406 21560406 G A SNP GFRA2 ENST00000517328 human ensembl 74_37 -1 known missense c.1129 p.R377W 1.000 pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt_a2 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_a2 - no_errors GFRA2 HGNC ENSG00000168546 32 0 0 33 16 32.6531 KAT6A 0 genome.wustl.edu 37 8 41798801 41798801 + Silent SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 8 41798801 41798801 G A SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known silent c.2598 p.G866 0.999 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 69 0 0 58 22 27.5 ST18 0 genome.wustl.edu 37 8 53084668 53084668 + Missense_Mutation SNP A A C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 8 53084668 53084668 A C SNP ST18 ENST00000276480 human ensembl 74_37 -1 known missense c.753 p.D251E 0.286 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 104 0 0 105 23 17.9688 SOX17 0 genome.wustl.edu 37 8 55371955 55371955 + Silent SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 8 55371955 55371955 C T SNP SOX17 ENST00000297316 human ensembl 74_37 +1 known silent c.645 p.D215 1.000 pfam_Sox_C_TAD pfam_Sox_C_TAD,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX17 HGNC ENSG00000164736 10 0 0 19 5 20.8333 ZFHX4 0 genome.wustl.edu 37 8 77618164 77618164 + Missense_Mutation SNP A A G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 8 77618164 77618164 A G SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.1841 p.E614G 1.000 smart_Znf_C2H2-like pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 77 0 0 43 61 58.6538 PAG1 0 genome.wustl.edu 37 8 81897444 81897444 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 8 81897444 81897444 G A SNP PAG1 ENST00000220597 human ensembl 74_37 -1 known missense c.443 p.A148V 0.000 NULL NULL - no_errors PAG1 HGNC ENSG00000076641 82 0 0 46 43 48.3146 ZNF618 0 genome.wustl.edu 37 9 116750605 116750605 + Missense_Mutation SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 9 116750605 116750605 C T SNP ZNF618 ENST00000374126 human ensembl 74_37 +1 known missense c.82 p.R28C 1.000 NULL superfamily_RNaseH-like_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF618 HGNC ENSG00000157657 15 0 0 10 4 28.5714 LAMC3 0 genome.wustl.edu 37 9 133901857 133901857 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 9 133901857 133901857 G A SNP LAMC3 ENST00000361069 human ensembl 74_37 +1 known missense c.559 p.V187M 0.944 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC ENSG00000050555 41 0 0 7 32 82.0513 CNTLN 0 genome.wustl.edu 37 9 17135262 17135262 + Nonsense_Mutation SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 9 17135262 17135262 C T SNP CNTLN ENST00000380647 human ensembl 74_37 +1 known nonsense c.199 p.R67* 0.425 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 15 0 0 9 6 40 ADAMTSL1 0 genome.wustl.edu 37 9 18661935 18661935 + Missense_Mutation SNP T T C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 9 18661935 18661935 T C SNP ADAMTSL1 ENST00000327883 human ensembl 74_37 +1 known missense c.949 p.Y317H 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL1 HGNC ENSG00000178031 58 0 0 24 35 59.322 GLIS3 0 genome.wustl.edu 37 9 4118468 4118468 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 9 4118468 4118468 G A SNP GLIS3 ENST00000381971 human ensembl 74_37 -1 known missense c.1010 p.S337L 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS3 HGNC ENSG00000107249 83 0 0 29 42 59.1549 SERPINA7 0 genome.wustl.edu 37 X 105278299 105278299 + Missense_Mutation SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac X 105278299 105278299 C T SNP SERPINA7 ENST00000327674 human ensembl 74_37 -1 known missense c.971 p.G324D 0.997 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA7 HGNC ENSG00000123561 47 0 0 11 24 68.5714 WDR44 0 genome.wustl.edu 37 X 117582881 117582881 + Missense_Mutation SNP A A C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac X 117582881 117582881 A C SNP WDR44 ENST00000254029 human ensembl 74_37 +1 known missense c.2673 p.E891D 1.000 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 WDR44 HGNC ENSG00000131725 36 0 0 9 14 60.8696 GPR119 0 genome.wustl.edu 37 X 129518529 129518529 + Missense_Mutation SNP T T G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac X 129518529 129518529 T G SNP GPR119 ENST00000276218 human ensembl 74_37 -1 known missense c.893 p.K298T 0.985 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR119 HGNC ENSG00000147262 43 0 0 8 21 72.4138 FAM45B 0 genome.wustl.edu 37 X 129629795 129629795 + RNA SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac X 129629795 129629795 C T SNP FAM45B ENST00000592932 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors FAM45B HGNC ENSG00000221930 48 0 0 9 28 75.6757 OR13H1 0 genome.wustl.edu 37 X 130678546 130678546 + Missense_Mutation SNP T T G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac X 130678546 130678546 T G SNP OR13H1 ENST00000338616 human ensembl 74_37 +1 known missense c.499 p.F167V 0.771 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13H1 HGNC ENSG00000171054 174 0 0 31 115 78.7671 GPR112 0 genome.wustl.edu 37 X 135431280 135431280 + Silent SNP T T G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac X 135431280 135431280 T G SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known silent c.5415 p.T1805 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 63 0 0 16 25 60.9756 RBMX 0 genome.wustl.edu 37 X 135957302 135957302 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac X 135957302 135957302 G A SNP RBMX ENST00000320676 human ensembl 74_37 -1 known missense c.808 p.R270C 1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMX HGNC ENSG00000147274 117 1 0.847458 72 4 5.26316 MAGEA12 0 genome.wustl.edu 37 X 151900057 151900057 + Silent SNP T T C TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac X 151900057 151900057 T C SNP MAGEA12 ENST00000357916 human ensembl 74_37 -1 known silent c.744 p.Q248 0.006 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA12 HGNC ENSG00000213401 138 0 0 25 67 72.8261 OPN1LW 0 genome.wustl.edu 37 X 153416412 153416412 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac X 153416412 153416412 G A SNP OPN1LW ENST00000369951 human ensembl 74_37 +1 known missense c.397 p.V133I 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_red/grn,prints_GPCR_Rhodpsn,prints_Opsin - no_errors OPN1LW HGNC ENSG00000102076 76 0 0 21 57 73.0769 RAI2 0 genome.wustl.edu 37 X 17818711 17818711 + Missense_Mutation SNP C C T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac X 17818711 17818711 C T SNP RAI2 ENST00000331511 human ensembl 74_37 -1 known missense c.1420 p.V474M 1.000 NULL NULL - no_errors RAI2 HGNC ENSG00000131831 174 0 0 36 77 68.1416 IL1RAPL1 0 genome.wustl.edu 37 X 29973643 29973643 + Silent SNP T T A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac X 29973643 29973643 T A SNP IL1RAPL1 ENST00000302196 human ensembl 74_37 +1 known silent c.1797 p.A599 1.000 NULL pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom - no_errors IL1RAPL1 HGNC ENSG00000169306 19 0 0 3 6 66.6667 CXorf38 0 genome.wustl.edu 37 X 40506753 40506753 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac X 40506753 40506753 G A SNP CXorf38 ENST00000327877 human ensembl 74_37 -1 known missense c.20 p.A7V 0.062 NULL NULL - no_errors CXorf38 HGNC ENSG00000185753 32 0 0 3 24 88.8889 IQSEC2 0 genome.wustl.edu 37 X 53279785 53279785 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac X 53279785 53279785 G A SNP IQSEC2 ENST00000396435 human ensembl 74_37 -1 known missense c.1973 p.P658L 1.000 NULL pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_P-loop_NTPase,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC2 HGNC ENSG00000124313 23 0 0 4 7 63.6364 HEPH 0 genome.wustl.edu 37 X 65479958 65479958 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac X 65479958 65479958 G A SNP HEPH ENST00000519389 human ensembl 74_37 +1 known missense c.3215 p.R1072Q 1.000 pfam_Cu-oxidase_2,superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPH HGNC ENSG00000089472 59 0 0 14 33 70.2128 AWAT2 0 genome.wustl.edu 37 X 69261762 69261762 + Missense_Mutation SNP C C G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac X 69261762 69261762 C G SNP AWAT2 ENST00000276101 human ensembl 74_37 -1 known missense c.898 p.V300L 0.948 pfam_DAGAT pfam_DAGAT - no_errors AWAT2 HGNC ENSG00000147160 45 0 0 8 23 74.1935 MAGEE1 0 genome.wustl.edu 37 X 75649975 75649975 + Missense_Mutation SNP T T G TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac X 75649975 75649975 T G SNP MAGEE1 ENST00000361470 human ensembl 74_37 +1 known missense c.1652 p.L551R 0.002 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 19 0 0 7 16 69.5652 ATRX 0 genome.wustl.edu 37 X 76907836 76907836 + Missense_Mutation SNP G G A TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac X 76907836 76907836 G A SNP ATRX ENST00000373344 human ensembl 74_37 -1 known missense c.4325 p.S1442F 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 18 0 0 0 5 100 OR14C36 0 genome.wustl.edu 37 1 248512383 248512384 + Frame_Shift_Ins INS - - T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 1 248512383 248512384 - T INS OR14C36 ENST00000317861 human ensembl 74_37 +1 known frame_shift_ins c.307_308 p.V106fs 0.000:0.004 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 OR14C36 HGNC ENSG00000177174 46 0 0 28 7 20 ARID1A 0 genome.wustl.edu 37 1 27097801 27097804 + Frame_Shift_Del DEL CCAG CCAG - TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 CCAG CCAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 1 27097801 27097804 CCAG - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.3390_3393 p.Q1131fs 1.000:1.000:1.000:1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 56 0 0 34 11 24.4444 BIRC2 0 genome.wustl.edu 37 11 102220610 102220611 + Frame_Shift_Ins INS - - T TCGA-HF-7134-01A-11D-2053-08 TCGA-HF-7134-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d419022-920a-482f-833a-3a3b1ef8070f 091f2979-4e0c-4223-aa29-20bd586113ac 11 102220610 102220611 - T INS BIRC2 ENST00000227758 human ensembl 74_37 +1 known frame_shift_ins c.25_26 p.G12fs 0.196:0.182 NULL pfam_BIR,pfam_CARD,superfamily_DEATH-like_dom,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC2 HGNC ENSG00000110330 141 0 0 84 30 26.3158