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 GJA8 0 genome.wustl.edu 37 1 147380211 147380211 + Silent SNP C C T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 1 147380211 147380211 C T SNP GJA8 ENST00000240986 human ensembl 74_37 +1 known silent c.129 p.F43 0.866 pfam_Connexin_N,smart_Connexin_N,prints_Connexin pfam_Connexin_N,pfam_Connexin50,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin50 - no_errors GJA8 HGNC ENSG00000121634 57 0 0 53 29 35.3659 UBQLN4 0 genome.wustl.edu 37 1 156012626 156012626 + Missense_Mutation SNP G G A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 1 156012626 156012626 G A SNP UBQLN4 ENST00000368309 human ensembl 74_37 -1 known missense c.1205 p.S402L 1.000 superfamily_XPC-bd,smart_STI1_HS-bd pfam_Ubiquitin_dom,pfam_UBA/Ts_N,pfam_Rad60/SUMO_like,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN4 HGNC ENSG00000160803 41 0 0 54 8 12.9032 OR10J1 0 genome.wustl.edu 37 1 159409739 159409739 + Missense_Mutation SNP T T G TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 1 159409739 159409739 T G SNP OR10J1 ENST00000423932 human ensembl 74_37 +1 known missense c.191 p.L64R 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J1 HGNC ENSG00000196184 150 0 0 116 86 42.5743 FCRLB 0 genome.wustl.edu 37 1 161693378 161693378 + Missense_Mutation SNP G G A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 1 161693378 161693378 G A SNP FCRLB ENST00000367948 human ensembl 74_37 +1 known missense c.274 p.V92I 0.972 smart_Ig_sub,pfscan_Ig-like_dom smart_Ig_sub,pfscan_Ig-like_dom - no_errors FCRLB HGNC ENSG00000162746 64 0 0 33 30 47.619 CEP350 0 genome.wustl.edu 37 1 180010911 180010911 + Missense_Mutation SNP A A G TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 1 180010911 180010911 A G SNP CEP350 ENST00000367607 human ensembl 74_37 +1 known missense c.4336 p.T1446A 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 12 0 0 5 14 73.6842 ETNK2 0 genome.wustl.edu 37 1 204119000 204119000 + Missense_Mutation SNP G G A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 1 204119000 204119000 G A SNP ETNK2 ENST00000367201 human ensembl 74_37 -1 known missense c.349 p.R117W 1.000 pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom - no_errors ETNK2 HGNC ENSG00000143845 13 0 0 11 2 15.3846 MAP10 0 genome.wustl.edu 37 1 232943384 232943384 + Missense_Mutation SNP C C T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 1 232943384 232943384 C T SNP MAP10 ENST00000418460 human ensembl 74_37 +1 known missense c.2615 p.S872L 0.003 NULL NULL - no_errors MAP10 HGNC ENSG00000212916 12 0 0 4 3 42.8571 KIF26B 0 genome.wustl.edu 37 1 245850350 245850350 + Silent SNP C C A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 1 245850350 245850350 C A SNP KIF26B ENST00000407071 human ensembl 74_37 +1 known silent c.4065 p.A1355 0.001 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 27 0 0 10 20 66.6667 AHCTF1 0 genome.wustl.edu 37 1 247004253 247004253 + Missense_Mutation SNP C C T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 1 247004253 247004253 C T SNP AHCTF1 ENST00000326225 human ensembl 74_37 -1 known missense c.6683 p.R2228Q 0.980 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors AHCTF1 HGNC ENSG00000153207 40 0 0 18 11 37.931 HDAC1 0 genome.wustl.edu 37 1 32798644 32798644 + Nonstop_Mutation SNP G G T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 1 32798644 32798644 G T SNP HDAC1 ENST00000373548 human ensembl 74_37 +1 known nonstop c.1448 p.*483L 0.980 NULL pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC1 HGNC ENSG00000116478 38 0 0 25 2 7.40741 B4GALT2 0 genome.wustl.edu 37 1 44450680 44450680 + Silent SNP C C T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 1 44450680 44450680 C T SNP B4GALT2 ENST00000309519 human ensembl 74_37 +1 known silent c.780 p.G260 0.302 pfam_Galactosyl_T_C pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT2 HGNC ENSG00000117411 47 0 0 33 11 25 DMRTB1 0 genome.wustl.edu 37 1 53925206 53925206 + Missense_Mutation SNP C C T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 1 53925206 53925206 C T SNP DMRTB1 ENST00000371445 human ensembl 74_37 +1 known missense c.80 p.A27V 1.000 pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRTB1 HGNC ENSG00000143006 19 0 0 6 11 64.7059 ELTD1 0 genome.wustl.edu 37 1 79470902 79470902 + Missense_Mutation SNP C C A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 1 79470902 79470902 C A SNP ELTD1 ENST00000370742 human ensembl 74_37 -1 known missense c.25 p.V9F 0.983 NULL 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 12 0 0 7 9 56.25 NOLC1 0 genome.wustl.edu 37 10 103920430 103920430 + Missense_Mutation SNP A A G TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 10 103920430 103920430 A G SNP NOLC1 ENST00000405356 human ensembl 74_37 +1 known missense c.1351 p.M451V 0.000 NULL pfam_SRP40_C,pfscan_LisH_dimerisation - no_errors NOLC1 HGNC ENSG00000166197 21 0 0 25 2 7.40741 GBF1 0 genome.wustl.edu 37 10 104125283 104125283 + Missense_Mutation SNP C C T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 10 104125283 104125283 C T SNP GBF1 ENST00000369983 human ensembl 74_37 +1 known missense c.2233 p.R745W 1.000 pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors GBF1 HGNC ENSG00000107862 106 0 0 82 30 26.7857 ANK3 0 genome.wustl.edu 37 10 62021617 62021617 + Missense_Mutation SNP C C G TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 10 62021617 62021617 C G SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.798 p.R266S 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 57 0 0 39 20 33.8983 HERC4 0 genome.wustl.edu 37 10 69750049 69750049 + Missense_Mutation SNP C C A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 10 69750049 69750049 C A SNP HERC4 ENST00000395198 human ensembl 74_37 -1 known missense c.1552 p.D518Y 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC4 HGNC ENSG00000148634 89 0 0 37 25 40.3226 CASP1 0 genome.wustl.edu 37 11 104900494 104900494 + Missense_Mutation SNP C C G TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 11 104900494 104900494 C G SNP CASP1 ENST00000436863 human ensembl 74_37 -1 known missense c.760 p.D254H 0.591 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_ICE_p20 pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP1 HGNC ENSG00000137752 98 0 0 78 63 44.6809 SIK2 0 genome.wustl.edu 37 11 111571702 111571702 + Nonsense_Mutation SNP C C T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 11 111571702 111571702 C T SNP SIK2 ENST00000304987 human ensembl 74_37 +1 known nonsense c.571 p.Q191* 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK2 HGNC ENSG00000170145 72 0 0 10 38 79.1667 RNF26 0 genome.wustl.edu 37 11 119206667 119206667 + Missense_Mutation SNP C C T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 11 119206667 119206667 C T SNP RNF26 ENST00000311413 human ensembl 74_37 +1 known missense c.835 p.R279C 0.042 NULL pfscan_Znf_RING - no_errors RNF26 HGNC ENSG00000173456 50 0 0 17 84 83.1683 SORL1 0 genome.wustl.edu 37 11 121425952 121425952 + Silent SNP G G A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 11 121425952 121425952 G A SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known silent c.2496 p.E832 1.000 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 78 0 0 73 24 24.7423 SLC17A6 0 genome.wustl.edu 37 11 22399153 22399153 + Missense_Mutation SNP G G T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 11 22399153 22399153 G T SNP SLC17A6 ENST00000263160 human ensembl 74_37 +1 known missense c.1616 p.G539V 1.000 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A6 HGNC ENSG00000091664 50 0 0 42 9 17.6471 OR52J3 0 genome.wustl.edu 37 11 5068218 5068218 + Missense_Mutation SNP G G A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 11 5068218 5068218 G A SNP OR52J3 ENST00000380370 human ensembl 74_37 +1 known missense c.463 p.V155I 0.002 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 OR52J3 HGNC ENSG00000205495 64 0 0 32 19 37.2549 OR5AR1 0 genome.wustl.edu 37 11 56431542 56431542 + Nonsense_Mutation SNP T T A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 11 56431542 56431542 T A SNP OR5AR1 ENST00000302969 human ensembl 74_37 +1 known nonsense c.381 p.C127* 0.050 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AR1 HGNC ENSG00000172459 165 0 0 154 42 21.4286 RBMXL2 0 genome.wustl.edu 37 11 7111495 7111495 + Missense_Mutation SNP C C T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 11 7111495 7111495 C T SNP RBMXL2 ENST00000306904 human ensembl 74_37 +1 known missense c.1144 p.R382C 1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL2 HGNC ENSG00000170748 15 0 0 0 10 100 ATXN2 0 genome.wustl.edu 37 12 111926287 111926287 + Missense_Mutation SNP C C A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 12 111926287 111926287 C A SNP ATXN2 ENST00000377617 human ensembl 74_37 -1 known missense c.2713 p.A905S 0.970 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2 HGNC ENSG00000204842 59 0 0 46 14 23.3333 BRAP 0 genome.wustl.edu 37 12 112119584 112119584 + Silent SNP C C T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 12 112119584 112119584 C T SNP BRAP ENST00000419234 human ensembl 74_37 -1 known silent c.300 p.A100 0.532 NULL pfam_BRAP2,pfam_Znf_UBP,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_UBP,pfscan_Znf_RING,pfscan_Znf_UBP - no_errors BRAP HGNC ENSG00000089234 92 0 0 66 5 7.04225 ACADS 0 genome.wustl.edu 37 12 121176172 121176172 + Silent SNP G G A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 12 121176172 121176172 G A SNP ACADS ENST00000242592 human ensembl 74_37 +1 known silent c.714 p.T238 0.593 superfamily_AcylCoA_DH/oxidase_NM_dom pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACADS HGNC ENSG00000122971 81 0 0 78 10 11.3636 DNAH10 0 genome.wustl.edu 37 12 124325995 124325995 + Missense_Mutation SNP G G A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 12 124325995 124325995 G A SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.4909 p.V1637M 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 142 0 0 85 33 27.9661 POLE 0 genome.wustl.edu 37 12 133256628 133256628 + Missense_Mutation SNP C C A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 12 133256628 133256628 C A SNP POLE ENST00000320574 human ensembl 74_37 -1 known missense c.335 p.C112F 1.000 pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 39 0 0 35 4 10.2564 C12orf4 0 genome.wustl.edu 37 12 4600345 4600345 + Missense_Mutation SNP T T A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 12 4600345 4600345 T A SNP C12orf4 ENST00000261250 human ensembl 74_37 -1 known missense c.1496 p.K499I 1.000 pfam_DUF2362 pfam_DUF2362 - no_errors C12orf4 HGNC ENSG00000047621 122 0 0 26 74 74 OR10AD1 0 genome.wustl.edu 37 12 48596917 48596917 + Missense_Mutation SNP G G T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 12 48596917 48596917 G T SNP OR10AD1 ENST00000310248 human ensembl 74_37 -1 known missense c.159 p.D53E 0.205 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10AD1 HGNC ENSG00000172640 27 0 0 23 7 23.3333 OR10A7 0 genome.wustl.edu 37 12 55615590 55615590 + Missense_Mutation SNP G G A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 12 55615590 55615590 G A SNP OR10A7 ENST00000326258 human ensembl 74_37 +1 known missense c.782 p.R261Q 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A7 HGNC ENSG00000179919 74 0 0 50 19 27.5362 ENSG00000243008 0 genome.wustl.edu 37 13 25144712 25144712 + RNA SNP A A C TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 13 25144712 25144712 A C SNP ENSG00000243008 ENST00000453498 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-556N21.1 Clone_based_vega_gene ENSG00000243008 15 0 0 7 4 36.3636 CSNK1A1L 0 genome.wustl.edu 37 13 37679324 37679324 + Missense_Mutation SNP C C T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 13 37679324 37679324 C T SNP CSNK1A1L ENST00000379800 human ensembl 74_37 -1 known missense c.70 p.G24R 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 CSNK1A1L HGNC ENSG00000180138 111 0 0 65 29 30.8511 TEP1 0 genome.wustl.edu 37 14 20863741 20863741 + Missense_Mutation SNP G G T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 14 20863741 20863741 G T SNP TEP1 ENST00000262715 human ensembl 74_37 -1 known missense c.1796 p.T599N 0.000 pfam_TROVE,pfscan_TROVE pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 64 0 0 63 11 14.8649 GEMIN2 0 genome.wustl.edu 37 14 39597518 39597518 + Missense_Mutation SNP A A C TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 14 39597518 39597518 A C SNP GEMIN2 ENST00000308317 human ensembl 74_37 +1 known missense c.599 p.N200T 1.000 pirsf_GEMIN2_metazoa pirsf_GEMIN2_metazoa - no_errors GEMIN2 HGNC ENSG00000092208 66 0 0 33 27 45 LRFN5 0 genome.wustl.edu 37 14 42360632 42360632 + Missense_Mutation SNP C C G TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 14 42360632 42360632 C G SNP LRFN5 ENST00000298119 human ensembl 74_37 +1 known missense c.1565 p.S522C 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN5 HGNC ENSG00000165379 227 0 0 157 51 24.5192 PCNX 0 genome.wustl.edu 37 14 71576670 71576670 + RNA SNP A A T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 14 71576670 71576670 A T SNP PCNX ENST00000556272 human ensembl 74_37 +1 known rna NULL NULL 0.010 - - - no_errors PCNX HGNC ENSG00000100731 67 0 0 46 19 29.2308 SNORA11B 0 genome.wustl.edu 37 14 91592791 91592791 + RNA SNP C C T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 14 91592791 91592791 C T SNP SNORA11B ENST00000408175 human ensembl 74_37 +1 known rna NULL NULL 0.095 - - - no_errors SNORA11B HGNC ENSG00000221102 16 0 0 17 6 26.087 SERPINA10 0 genome.wustl.edu 37 14 94750385 94750385 + Missense_Mutation SNP G G A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 14 94750385 94750385 G A SNP SERPINA10 ENST00000261994 human ensembl 74_37 -1 known missense c.1252 p.R418W 0.903 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA10 HGNC ENSG00000140093 51 0 0 57 3 5 SECISBP2L 0 genome.wustl.edu 37 15 49303926 49303926 + Splice_Site SNP A A G TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 15 49303926 49303926 A G SNP SECISBP2L ENST00000559471 human ensembl 74_37 -1 known splice_site c.1864+2 e13+2 1.000 - - - no_errors SECISBP2L HGNC ENSG00000138593 59 0 0 26 2 7.14286 PML 0 genome.wustl.edu 37 15 74290635 74290635 + Silent SNP C C T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 15 74290635 74290635 C T SNP PML ENST00000268058 human ensembl 74_37 +1 known silent c.420 p.C140 0.998 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC ENSG00000140464 25 0 0 30 3 9.09091 ZP2 0 genome.wustl.edu 37 16 21208827 21208827 + Nonsense_Mutation SNP C C A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 16 21208827 21208827 C A SNP ZP2 ENST00000219593 human ensembl 74_37 -1 known nonsense c.2212 p.E738* 0.299 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP2 HGNC ENSG00000103310 69 0 0 32 3 8.57143 EEF2K 0 genome.wustl.edu 37 16 22278169 22278169 + Missense_Mutation SNP A A T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 16 22278169 22278169 A T SNP EEF2K ENST00000263026 human ensembl 74_37 +1 known missense c.1736 p.H579L 1.000 pirsf_Elongation_factor_2_kinase pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase - no_errors EEF2K HGNC ENSG00000103319 143 0 0 84 29 25.6637 ADAMTS18 0 genome.wustl.edu 37 16 77325275 77325275 + Missense_Mutation SNP C C T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 16 77325275 77325275 C T SNP ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known missense c.3290 p.R1097H 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt 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 206 0 0 34 108 76.0563 KRT27 0 genome.wustl.edu 37 17 38933503 38933503 + Splice_Site SNP A A C TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 17 38933503 38933503 A C SNP KRT27 ENST00000301656 human ensembl 74_37 -1 known splice_site c.1240+2 e7+2 0.992 - - - no_errors KRT27 HGNC ENSG00000171446 230 0 0 48 5 9.43396 SLC16A13 0 genome.wustl.edu 37 17 6941923 6941923 + Missense_Mutation SNP C C T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 17 6941923 6941923 C T SNP SLC16A13 ENST00000308027 human ensembl 74_37 +1 known missense c.796 p.R266C 1.000 pfam_MFS,pfam_Atg22-like,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Atg22-like,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A13 HGNC ENSG00000174327 81 0 0 30 28 48.2759 GATA6 0 genome.wustl.edu 37 18 19762749 19762749 + Missense_Mutation SNP G G T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 18 19762749 19762749 G T SNP GATA6 ENST00000269216 human ensembl 74_37 +1 known missense c.1460 p.G487V 1.000 smart_Znf_GATA,pfscan_Znf_GATA pfam_GATA_N,pfam_Znf_GATA,smart_Znf_GATA,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA6 HGNC ENSG00000141448 23 0 0 19 3 13.6364 DSC1 0 genome.wustl.edu 37 18 28710576 28710576 + Silent SNP T T A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 18 28710576 28710576 T A SNP DSC1 ENST00000257198 human ensembl 74_37 -1 known silent c.2586 p.V862 0.532 pfam_Cadherin_cytoplasmic-dom,prints_Desmosomal_cadherin pfam_Cadherin,pfam_Cadherin_pro_dom,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin/Desmocollin,prints_Cadherin,prints_Desmosomal_cadherin - no_errors DSC1 HGNC ENSG00000134765 155 0 0 63 28 30.7692 ABCA7 0 genome.wustl.edu 37 19 1055121 1055121 + Missense_Mutation SNP G G A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 19 1055121 1055121 G A SNP ABCA7 ENST00000263094 human ensembl 74_37 +1 known missense c.3976 p.E1326K 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA7 HGNC ENSG00000064687 43 0 0 30 2 6.25 EMR2 0 genome.wustl.edu 37 19 14887536 14887536 + Splice_Site SNP A A G TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 19 14887536 14887536 A G SNP EMR2 ENST00000315576 human ensembl 74_37 -1 known splice_site c.31+2 e1+2 0.149 - - - no_errors EMR2 HGNC ENSG00000127507 22 0 0 0 12 100 MAST3 0 genome.wustl.edu 37 19 18255381 18255381 + Missense_Mutation SNP G G A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 19 18255381 18255381 G A SNP MAST3 ENST00000262811 human ensembl 74_37 +1 known missense c.2603 p.G868D 0.309 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST3 HGNC ENSG00000099308 23 0 0 12 10 45.4545 ZNF568 0 genome.wustl.edu 37 19 37441189 37441189 + Silent SNP G G A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 19 37441189 37441189 G A SNP ZNF568 ENST00000333987 human ensembl 74_37 +1 known silent c.1134 p.T378 0.004 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF568 HGNC ENSG00000198453 76 0 0 49 54 52.4272 QPCTL 0 genome.wustl.edu 37 19 46195970 46195970 + Silent SNP C C G TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 19 46195970 46195970 C G SNP QPCTL ENST00000012049 human ensembl 74_37 +1 known silent c.9 p.S3 1.000 NULL pfam_Peptidase_M28 - no_errors QPCTL HGNC ENSG00000011478 18 0 0 23 12 34.2857 ADAMTS10 0 genome.wustl.edu 37 19 8669960 8669960 + Silent SNP G G A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 19 8669960 8669960 G A SNP ADAMTS10 ENST00000270328 human ensembl 74_37 -1 known silent c.372 p.Y124 0.963 pfam_Peptidase_M12B_N pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,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 ADAMTS10 HGNC ENSG00000142303 8 0 0 1 11 91.6667 GLI2 0 genome.wustl.edu 37 2 121736090 121736090 + Silent SNP C C A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 2 121736090 121736090 C A SNP GLI2 ENST00000361492 human ensembl 74_37 +1 known silent c.1449 p.P483 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 120 0 0 48 71 59.6639 MYO7B 0 genome.wustl.edu 37 2 128367092 128367092 + Silent SNP G G A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 2 128367092 128367092 G A SNP MYO7B ENST00000389524 human ensembl 74_37 +1 known silent c.2826 p.S942 0.000 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 11 0 0 9 7 43.75 PDE1A 0 genome.wustl.edu 37 2 183129090 183129090 + Missense_Mutation SNP G G T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 2 183129090 183129090 G T SNP PDE1A ENST00000456212 human ensembl 74_37 -1 known missense c.153 p.D51E 1.000 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_N,superfamily_GRIP,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1A HGNC ENSG00000115252 92 0 0 54 15 21.7391 SH3BP4 0 genome.wustl.edu 37 2 235950502 235950502 + Silent SNP G G A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 2 235950502 235950502 G A SNP SH3BP4 ENST00000344528 human ensembl 74_37 +1 known silent c.1089 p.P363 0.000 pfam_ZU5 pfam_SH3_2,pfam_SH3_domain,pfam_ZU5,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors SH3BP4 HGNC ENSG00000130147 33 0 0 18 16 47.0588 HDLBP 0 genome.wustl.edu 37 2 242178204 242178204 + Splice_Site SNP T T A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 2 242178204 242178204 T A SNP HDLBP ENST00000310931 human ensembl 74_37 -1 known splice_site c.2611-2 e18-2 1.000 - - - no_errors HDLBP HGNC ENSG00000115677 199 0 0 234 31 11.6981 HDLBP 0 genome.wustl.edu 37 2 242179015 242179015 + Splice_Site SNP A A T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 2 242179015 242179015 A T SNP HDLBP ENST00000310931 human ensembl 74_37 -1 known splice_site c.2610+2 e17+2 0.999 - - - no_errors HDLBP HGNC ENSG00000115677 125 0 0 207 29 12.2881 HDLBP 0 genome.wustl.edu 37 2 242179410 242179410 + Missense_Mutation SNP G G A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 2 242179410 242179410 G A SNP HDLBP ENST00000310931 human ensembl 74_37 -1 known missense c.2297 p.A766V 0.075 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC ENSG00000115677 106 0 0 135 41 23.2955 NRXN1 0 genome.wustl.edu 37 2 51255000 51255000 + Missense_Mutation SNP C C A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 2 51255000 51255000 C A SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known missense c.412 p.V138L 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 42 0 0 22 15 40.5405 MIR217 0 genome.wustl.edu 37 2 56210114 56210114 + RNA SNP C C A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 2 56210114 56210114 C A SNP MIR217 ENST00000384817 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR217 HGNC ENSG00000207548 34 0 0 24 5 17.2414 ZHX3 0 genome.wustl.edu 37 20 39832810 39832810 + Missense_Mutation SNP G G T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 20 39832810 39832810 G T SNP ZHX3 ENST00000309060 human ensembl 74_37 -1 known missense c.747 p.N249K 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors ZHX3 HGNC ENSG00000174306 100 0 0 47 53 53 TOX2 0 genome.wustl.edu 37 20 42695466 42695466 + Missense_Mutation SNP C C A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 20 42695466 42695466 C A SNP TOX2 ENST00000341197 human ensembl 74_37 +1 known missense c.1453 p.P485T 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX2 HGNC ENSG00000124191 202 0 0 134 109 44.856 RASSF2 0 genome.wustl.edu 37 20 4771185 4771185 + Missense_Mutation SNP C C T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 20 4771185 4771185 C T SNP RASSF2 ENST00000379376 human ensembl 74_37 -1 known missense c.449 p.R150H 0.999 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH_dom - no_errors RASSF2 HGNC ENSG00000101265 34 0 0 28 17 37.7778 ZNF831 0 genome.wustl.edu 37 20 57769755 57769755 + Missense_Mutation SNP C C A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 20 57769755 57769755 C A SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel missense c.3681 p.S1227R 0.002 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 27 0 0 7 24 77.4194 CHGB 0 genome.wustl.edu 37 20 5903256 5903256 + Missense_Mutation SNP C C G TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 20 5903256 5903256 C G SNP CHGB ENST00000378961 human ensembl 74_37 +1 known missense c.466 p.H156D 0.001 pfam_Granin pfam_Granin,prints_Chromogranin_AB - no_errors CHGB HGNC ENSG00000089199 26 0 0 31 2 6.06061 UCKL1 0 genome.wustl.edu 37 20 62571773 62571773 + Silent SNP C C A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 20 62571773 62571773 C A SNP UCKL1 ENST00000354216 human ensembl 74_37 -1 known silent c.1368 p.V456 0.999 NULL pfam_PRK/URK,pfam_CPT,superfamily_P-loop_NTPase,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase - no_errors UCKL1 HGNC ENSG00000198276 29 0 0 30 20 40 TCEA2 0 genome.wustl.edu 37 20 62700799 62700799 + Missense_Mutation SNP C C T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 20 62700799 62700799 C T SNP TCEA2 ENST00000343484 human ensembl 74_37 +1 known missense c.415 p.R139C 0.992 pfam_TFIIS_cen_dom,superfamily_TFIIS_cen_dom,smart_TFS2M,pirsf_TF_IIS-rel,tigrfam_TFSII pfam_TFIIS_cen_dom,pfam_TFIIS_N,pfam_Znf_TFIIS,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_TFS2M,smart_Znf_TFIIS,pirsf_TF_IIS-rel,pfscan_Znf_TFIIS,tigrfam_TFSII - no_errors TCEA2 HGNC ENSG00000171703 29 0 0 6 42 87.5 RIPPLY3 0 genome.wustl.edu 37 21 38390196 38390196 + Missense_Mutation SNP C C G TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 21 38390196 38390196 C G SNP RIPPLY3 ENST00000329553 human ensembl 74_37 +1 known missense c.262 p.R88G 1.000 NULL NULL - no_errors RIPPLY3 HGNC ENSG00000183145 37 0 0 7 27 79.4118 TTC3 0 genome.wustl.edu 37 21 38538879 38538879 + Missense_Mutation SNP G G A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 21 38538879 38538879 G A SNP TTC3 ENST00000354749 human ensembl 74_37 +1 known missense c.4363 p.V1455I 0.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 46 0 0 30 2 6.25 BRWD1 0 genome.wustl.edu 37 21 40578076 40578076 + Missense_Mutation SNP C C T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 21 40578076 40578076 C T SNP BRWD1 ENST00000333229 human ensembl 74_37 -1 known missense c.4322 p.R1441Q 0.016 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC ENSG00000185658 198 0 0 116 14 10.7692 CLTCL1 0 genome.wustl.edu 37 22 19241744 19241744 + Missense_Mutation SNP T T C TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 22 19241744 19241744 T C SNP CLTCL1 ENST00000263200 human ensembl 74_37 -1 known missense c.257 p.K86R 1.000 superfamily_Clathrin_H-chain_propeller_N,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTCL1 HGNC ENSG00000070371 33 0 0 5 12 70.5882 TIMP3 0 genome.wustl.edu 37 22 33254081 33254081 + Missense_Mutation SNP C C T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 22 33254081 33254081 C T SNP TIMP3 ENST00000266085 human ensembl 74_37 +1 known missense c.394 p.R132C 1.000 pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain - no_errors TIMP3 HGNC ENSG00000100234 72 0 0 17 43 71.6667 SBF1 0 genome.wustl.edu 37 22 50905993 50905993 + Missense_Mutation SNP C C A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 22 50905993 50905993 C A SNP SBF1 ENST00000380817 human ensembl 74_37 -1 known missense c.406 p.V136L 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC ENSG00000100241 117 0 0 31 74 70.4762 KALRN 0 genome.wustl.edu 37 3 124044891 124044891 + Missense_Mutation SNP A A T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 3 124044891 124044891 A T SNP KALRN ENST00000360013 human ensembl 74_37 +1 known missense c.1151 p.Y384F 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 118 0 0 73 4 5.19481 LPP 0 genome.wustl.edu 37 3 188242498 188242498 + Missense_Mutation SNP G G T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 3 188242498 188242498 G T SNP LPP ENST00000312675 human ensembl 74_37 +1 known missense c.352 p.D118Y 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LPP HGNC ENSG00000145012 137 1 0.724638 99 63 38.8889 LPP 0 genome.wustl.edu 37 3 188242499 188242499 + Missense_Mutation SNP A A T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 3 188242499 188242499 A T SNP LPP ENST00000312675 human ensembl 74_37 +1 known missense c.353 p.D118V 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LPP HGNC ENSG00000145012 139 0 0 97 64 39.7516 MUC4 0 genome.wustl.edu 37 3 195505814 195505814 + Missense_Mutation SNP C C T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 3 195505814 195505814 C T SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.12637 p.D4213N 0.103 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 14 0 0 15 3 16.6667 SCN11A 0 genome.wustl.edu 37 3 38888715 38888715 + Missense_Mutation SNP C C T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 3 38888715 38888715 C T SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known missense c.4846 p.D1616N 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 122 0 0 71 16 18.3908 FHDC1 0 genome.wustl.edu 37 4 153893553 153893553 + Missense_Mutation SNP C C A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 4 153893553 153893553 C A SNP FHDC1 ENST00000260008 human ensembl 74_37 +1 known missense c.1243 p.L415M 0.998 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,smart_FH2_Formin - no_errors FHDC1 HGNC ENSG00000137460 33 0 0 30 2 6.25 TRIML2 0 genome.wustl.edu 37 4 189012609 189012609 + Missense_Mutation SNP C C A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 4 189012609 189012609 C A SNP TRIML2 ENST00000512729 human ensembl 74_37 -1 known missense c.1082 p.C361F 0.944 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 118 0 0 24 38 61.2903 TECRL 0 genome.wustl.edu 37 4 65155449 65155449 + Missense_Mutation SNP A A C TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 4 65155449 65155449 A C SNP TECRL ENST00000381210 human ensembl 74_37 -1 known missense c.811 p.L271V 0.058 pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C - no_errors TECRL HGNC ENSG00000205678 36 0 0 11 9 45 FTH1P10 0 genome.wustl.edu 37 5 17354234 17354234 + RNA SNP C C T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 5 17354234 17354234 C T SNP FTH1P10 ENST00000401830 human ensembl 74_37 -1 known rna NULL NULL 0.994 - - - no_errors FTH1P10 HGNC ENSG00000223361 165 0 0 168 13 7.18232 OXCT1 0 genome.wustl.edu 37 5 41739516 41739516 + Missense_Mutation SNP C C G TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 5 41739516 41739516 C G SNP OXCT1 ENST00000196371 human ensembl 74_37 -1 known missense c.1497 p.Q499H 0.905 pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B,tigrfam_3-oxoacid_CoA-transf_A - no_errors OXCT1 HGNC ENSG00000083720 116 0 0 95 25 20.8333 MSH3 0 genome.wustl.edu 37 5 79968173 79968173 + Silent SNP A A T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 5 79968173 79968173 A T SNP MSH3 ENST00000265081 human ensembl 74_37 +1 known silent c.903 p.G301 0.999 pfam_DNA_mismatch_repair_MutS-lik_N,superfamily_DNA_mismatch_repair_MutS_N pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH3 HGNC ENSG00000113318 82 0 0 41 12 22.6415 FOXO3 0 genome.wustl.edu 37 6 108985299 108985299 + Silent SNP G G A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 6 108985299 108985299 G A SNP FOXO3 ENST00000343882 human ensembl 74_37 +1 known silent c.1263 p.S421 0.016 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO3 HGNC ENSG00000118689 134 0 0 134 32 19.2771 ELOVL2 0 genome.wustl.edu 37 6 10990028 10990028 + Missense_Mutation SNP C C T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 6 10990028 10990028 C T SNP ELOVL2 ENST00000354666 human ensembl 74_37 -1 known missense c.673 p.V225M 0.992 pfam_GNS1_SUR4 pfam_GNS1_SUR4 - no_errors ELOVL2 HGNC ENSG00000197977 79 0 0 103 45 30.4054 GRM1 0 genome.wustl.edu 37 6 146747700 146747700 + Missense_Mutation SNP G G A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 6 146747700 146747700 G A SNP GRM1 ENST00000392299 human ensembl 74_37 +1 known missense c.2666 p.R889K 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_1,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 16 0 0 2 7 77.7778 DLL1 0 genome.wustl.edu 37 6 170594225 170594225 + Splice_Site SNP T T C TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 6 170594225 170594225 T C SNP DLL1 ENST00000366756 human ensembl 74_37 -1 known splice_site c.1033-2 e8-2 1.000 - - - no_errors DLL1 HGNC ENSG00000198719 43 0 0 29 2 6.45161 NHLRC1 0 genome.wustl.edu 37 6 18122065 18122065 + Missense_Mutation SNP T T C TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 6 18122065 18122065 T C SNP NHLRC1 ENST00000340650 human ensembl 74_37 -1 known missense c.773 p.Q258R 0.003 pfscan_NHL_repeat_subgr smart_Znf_RING,pfscan_NHL_repeat_subgr,pfscan_Znf_RING - no_errors NHLRC1 HGNC ENSG00000187566 60 0 0 67 6 8.21918 ETV7 0 genome.wustl.edu 37 6 36343663 36343663 + Missense_Mutation SNP G G A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 6 36343663 36343663 G A SNP ETV7 ENST00000340181 human ensembl 74_37 -1 known missense c.292 p.R98C 0.997 pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV7 HGNC ENSG00000010030 171 0 0 236 19 7.45098 FAM46A 0 genome.wustl.edu 37 6 82459692 82459692 + Missense_Mutation SNP C C T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 6 82459692 82459692 C T SNP FAM46A ENST00000369754 human ensembl 74_37 -1 known missense c.1106 p.R369H 1.000 pfam_DUF1693 pfam_DUF1693 - no_errors FAM46A HGNC ENSG00000112773 52 0 0 45 31 40.7895 TAS2R4 0 genome.wustl.edu 37 7 141478766 141478766 + Missense_Mutation SNP G G A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 7 141478766 141478766 G A SNP TAS2R4 ENST00000247881 human ensembl 74_37 +1 known missense c.478 p.V160M 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R4 HGNC ENSG00000127364 227 0 0 151 59 28.0952 ATG9B 0 genome.wustl.edu 37 7 150721409 150721409 + Silent SNP A A T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 7 150721409 150721409 A T SNP ATG9B ENST00000377974 human ensembl 74_37 -1 known silent c.102 p.P34 0.575 NULL pfam_Autophagy-rel_prot_9 - no_errors ATG9B HGNC ENSG00000181652 10 0 0 1 2 66.6667 TBX20 0 genome.wustl.edu 37 7 35293166 35293166 + Silent SNP C C A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 7 35293166 35293166 C A SNP TBX20 ENST00000408931 human ensembl 74_37 -1 known silent c.66 p.A22 0.997 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX20 HGNC ENSG00000164532 31 0 0 34 2 5.55556 ADCY8 0 genome.wustl.edu 37 8 131795957 131795957 + Missense_Mutation SNP T T A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 8 131795957 131795957 T A SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known missense c.3248 p.N1083I 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 70 0 0 17 73 81.1111 RP1 0 genome.wustl.edu 37 8 55533785 55533785 + Missense_Mutation SNP C C T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 8 55533785 55533785 C T SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.259 p.R87W 0.569 pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 120 0 0 167 41 19.7115 RP1 0 genome.wustl.edu 37 8 55542395 55542395 + Missense_Mutation SNP A A T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 8 55542395 55542395 A T SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.5953 p.I1985F 0.001 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 38 0 0 23 11 32.3529 FBXW2 0 genome.wustl.edu 37 9 123527050 123527050 + Silent SNP G G A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 9 123527050 123527050 G A SNP FBXW2 ENST00000608872 human ensembl 74_37 -1 known silent c.1152 p.N384 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW2 HGNC ENSG00000119402 80 0 0 62 15 19.4805 TRAF1 0 genome.wustl.edu 37 9 123675801 123675801 + Silent SNP G G A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 9 123675801 123675801 G A SNP TRAF1 ENST00000373887 human ensembl 74_37 -1 known silent c.510 p.S170 0.001 pirsf_TNF_rcpt--assoc_TRAF pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH - no_errors TRAF1 HGNC ENSG00000056558 41 0 0 16 21 56.7568 TOR1A 0 genome.wustl.edu 37 9 132580876 132580876 + Missense_Mutation SNP C C T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 9 132580876 132580876 C T SNP TOR1A ENST00000351698 human ensembl 74_37 -1 known missense c.671 p.S224N 0.027 superfamily_P-loop_NTPase,pirsf_Torsin_subgr pfam_Torsin,superfamily_P-loop_NTPase,pirsf_Torsin_subgr - no_errors TOR1A HGNC ENSG00000136827 115 0 0 61 57 48.3051 KCNT1 0 genome.wustl.edu 37 9 138683695 138683695 + Silent SNP G G A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 9 138683695 138683695 G A SNP KCNT1 ENST00000298480 human ensembl 74_37 +1 known silent c.3618 p.P1206 0.001 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT1 HGNC ENSG00000107147 150 0 0 69 80 53.6913 CACNA1B 0 genome.wustl.edu 37 9 140772535 140772535 + Silent SNP G G A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 9 140772535 140772535 G A SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known silent c.150 p.A50 0.965 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 11 0 0 14 3 17.6471 HAUS6 0 genome.wustl.edu 37 9 19063161 19063161 + Missense_Mutation SNP T T G TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 9 19063161 19063161 T G SNP HAUS6 ENST00000380502 human ensembl 74_37 -1 known missense c.1474 p.N492H 0.000 NULL NULL - no_errors HAUS6 HGNC ENSG00000147874 17 0 0 4 5 55.5556 CDK20 0 genome.wustl.edu 37 9 90586220 90586220 + Missense_Mutation SNP C C A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 9 90586220 90586220 C A SNP CDK20 ENST00000325303 human ensembl 74_37 -1 known missense c.220 p.G74C 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 CDK20 HGNC ENSG00000156345 29 0 0 15 2 11.7647 MAGEC1 0 genome.wustl.edu 37 X 140994530 140994530 + Missense_Mutation SNP T T G TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 X 140994530 140994530 T G SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known missense c.1340 p.V447G 0.003 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 72 0 0 14 23 62.1622 CYLC1 0 genome.wustl.edu 37 X 83128442 83128442 + Missense_Mutation SNP T T G TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 X 83128442 83128442 T G SNP CYLC1 ENST00000329312 human ensembl 74_37 +1 known missense c.726 p.S242R 0.000 NULL NULL - no_errors CYLC1 HGNC ENSG00000183035 26 0 0 5 13 72.2222 PHTF1 0 genome.wustl.edu 37 1 114267498 114267499 + Frame_Shift_Del DEL AC AC - TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 1 114267498 114267499 AC - DEL PHTF1 ENST00000369604 human ensembl 74_37 -1 known frame_shift_del c.506_505 p.V169fs 0.995:0.995 NULL pfam_TF_homeodomain_male - no_errors PHTF1 HGNC ENSG00000116793 27 0 0 3 7 70 KIAA0907 0 genome.wustl.edu 37 1 155884048 155884049 + Frame_Shift_Del DEL TC TC - TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 1 155884048 155884049 TC - DEL KIAA0907 ENST00000368321 human ensembl 74_37 -1 known frame_shift_del c.1709_1708 p.D570fs 1.000:1.000 NULL NULL - no_errors KIAA0907 HGNC ENSG00000132680 60 0 0 82 14 14.5833 HSPA6 0 genome.wustl.edu 37 1 161494681 161494682 + Frame_Shift_Ins INS - - A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 1 161494681 161494682 - A INS HSPA6 ENST00000309758 human ensembl 74_37 +1 known frame_shift_ins c.233_234 p.K79fs 0.988:0.992 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA6 HGNC ENSG00000173110 106 0 0 117 22 15.8273 TM9SF3 0 genome.wustl.edu 37 10 98292809 98292810 + Frame_Shift_Ins INS - - T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 10 98292809 98292810 - T INS TM9SF3 ENST00000371142 human ensembl 74_37 -1 known frame_shift_ins c.1324_1323 p.W441fs 1.000:1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF3 HGNC ENSG00000077147 149 0 0 118 57 32.5714 WBP4 0 genome.wustl.edu 37 13 41639174 41639177 + Frame_Shift_Del DEL GAAA GAAA - TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 GAAA GAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 13 41639174 41639177 GAAA - DEL WBP4 ENST00000379487 human ensembl 74_37 +1 known frame_shift_del c.98_101 p.K34fs 1.000:1.000:1.000:1.000 pfam_Znf_U1-C,smart_Znf_U1,pfscan_Znf_C2H2_matrin pfam_WW_dom,pfam_Znf_U1-C,superfamily_WW_dom,smart_Znf_U1,smart_WW_dom,pfscan_WW_dom,pfscan_Znf_C2H2_matrin - no_errors WBP4 HGNC ENSG00000120688 85 0 0 36 21 36.8421 C20orf112 0 genome.wustl.edu 37 20 31043938 31043939 + Frame_Shift_Del DEL CC CC - TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 CC CC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 20 31043938 31043939 CC - DEL C20orf112 ENST00000359676 human ensembl 74_37 -1 known frame_shift_del c.370_369 p.V124fs 1.000:0.992 NULL NULL - no_errors C20orf112 HGNC ENSG00000197183 209 0 0 322 70 17.8571 ADCY2 0 genome.wustl.edu 37 5 7727327 7727328 + Frame_Shift_Del DEL TC TC - TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 5 7727327 7727328 TC - DEL ADCY2 ENST00000338316 human ensembl 74_37 +1 known frame_shift_del c.1824_1825 p.L609fs 0.996:1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY2 HGNC ENSG00000078295 132 0 0 117 25 17.6056 CDKN2A 0 genome.wustl.edu 37 9 21971024 21971024 + Frame_Shift_Del DEL G G - TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 9 21971024 21971024 G - DEL CDKN2A ENST00000361570 human ensembl 74_37 -1 known frame_shift_del c.500 p.P167fs 1.000 NULL pfam_Cyclin_kinase-Inhib_2A - no_errors CDKN2A HGNC ENSG00000147889 47 0 0 32 14 30.4348 CDKN2A 0 genome.wustl.edu 37 9 21974715 21974732 + In_Frame_Del DEL GCAGCGCCCCCGCCTCCA GCAGCGCCCCCGCCTCCA - TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 GCAGCGCCCCCGCCTCCA GCAGCGCCCCCGCCTCCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 9 21974715 21974732 GCAGCGCCCCCGCCTCCA - DEL CDKN2A ENST00000446177 human ensembl 74_37 -1 known in_frame_del c.112_95 p.LEAGAL32in_frame_del 0.298:0.000:0.000:0.000:0.000:0.140:0.976:0.991:1.000:0.998:0.003:0.003:0.003:0.000:0.001:0.000:0.000:0.968 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors CDKN2A HGNC ENSG00000147889 83 0 0 59 30 33.7079