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 NBPF14 0 genome.wustl.edu 37 1 148016431 148016431 + Missense_Mutation SNP C C T TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 1 148016431 148016431 C T SNP NBPF14 ENST00000369219 human ensembl 74_37 -1 known missense c.811 p.D271N 0.000 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF14 HGNC ENSG00000122497 144 0 0 85 50 37.037 CERS2 0 genome.wustl.edu 37 1 150938959 150938959 + Missense_Mutation SNP G G A TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 1 150938959 150938959 G A SNP CERS2 ENST00000271688 human ensembl 74_37 -1 known missense c.995 p.T332I 1.000 smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeobox_dom - no_errors CERS2 HGNC ENSG00000143418 48 0 0 58 10 14.7059 IVL 0 genome.wustl.edu 37 1 152883950 152883950 + Silent SNP G G T TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 1 152883950 152883950 G T SNP IVL ENST00000368764 human ensembl 74_37 +1 known silent c.1677 p.L559 0.002 NULL pfam_Involucrin_N,pfam_Involucrin_rpt - no_errors IVL HGNC ENSG00000163207 82 0 0 71 36 33.6449 SPTA1 0 genome.wustl.edu 37 1 158615329 158615329 + Missense_Mutation SNP C C A TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 1 158615329 158615329 C A SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.3952 p.A1318S 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 143 0 0 99 61 38.125 HSPA6 0 genome.wustl.edu 37 1 161495454 161495454 + Missense_Mutation SNP G G A TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 1 161495454 161495454 G A SNP HSPA6 ENST00000309758 human ensembl 74_37 +1 known missense c.1006 p.V336I 0.079 pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA6 HGNC ENSG00000173110 34 0 0 25 3 10.7143 FBXO42 0 genome.wustl.edu 37 1 16632360 16632360 + Missense_Mutation SNP A A C TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 1 16632360 16632360 A C SNP FBXO42 ENST00000375592 human ensembl 74_37 -1 known missense c.305 p.I102S 1.000 NULL pfam_Kelch_2,pfam_Kelch_1,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO42 HGNC ENSG00000037637 107 0 0 97 15 13.3929 ADCY10 0 genome.wustl.edu 37 1 167817653 167817653 + Missense_Mutation SNP G G A TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 1 167817653 167817653 G A SNP ADCY10 ENST00000367851 human ensembl 74_37 -1 known missense c.2383 p.H795Y 0.504 pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ENSG00000143199 62 0 0 75 14 15.7303 PRRX1 0 genome.wustl.edu 37 1 170695386 170695386 + Missense_Mutation SNP A A G TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 1 170695386 170695386 A G SNP PRRX1 ENST00000239461 human ensembl 74_37 +1 known missense c.443 p.K148R 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors PRRX1 HGNC ENSG00000116132 26 0 0 11 9 45 CROCC 0 genome.wustl.edu 37 1 17292551 17292551 + Missense_Mutation SNP G G A TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 1 17292551 17292551 G A SNP CROCC ENST00000375541 human ensembl 74_37 +1 known missense c.4633 p.E1545K 0.958 superfamily_t-SNARE superfamily_Prefoldin,superfamily_t-SNARE - no_errors CROCC HGNC ENSG00000058453 68 0 0 53 10 15.873 LGR6 0 genome.wustl.edu 37 1 202276000 202276000 + Missense_Mutation SNP C C A TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 1 202276000 202276000 C A SNP LGR6 ENST00000367278 human ensembl 74_37 +1 known missense c.1141 p.L381I 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn - no_errors LGR6 HGNC ENSG00000133067 50 0 0 57 3 5 PROX1 0 genome.wustl.edu 37 1 214170481 214170481 + Silent SNP A A G TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 1 214170481 214170481 A G SNP PROX1 ENST00000261454 human ensembl 74_37 +1 known silent c.603 p.R201 0.998 pfam_Homeo_prospero_dom pfam_Homeo_prospero_dom,superfamily_Homeodomain-like - no_errors PROX1 HGNC ENSG00000117707 55 0 0 38 5 11.6279 KIF26B 0 genome.wustl.edu 37 1 245861560 245861560 + Missense_Mutation SNP G G A TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 1 245861560 245861560 G A SNP KIF26B ENST00000407071 human ensembl 74_37 +1 known missense c.5977 p.E1993K 1.000 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 31 0 0 30 14 31.8182 WASF2 0 genome.wustl.edu 37 1 27755293 27755293 + Silent SNP G G A TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 1 27755293 27755293 G A SNP WASF2 ENST00000430629 human ensembl 74_37 -1 known silent c.108 p.V36 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF2 HGNC ENSG00000158195 70 0 0 79 15 15.9574 INADL 0 genome.wustl.edu 37 1 62516710 62516710 + Nonsense_Mutation SNP G G T TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 1 62516710 62516710 G T SNP INADL ENST00000371158 human ensembl 74_37 +1 known nonsense c.4105 p.E1369* 0.553 NULL pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors INADL HGNC ENSG00000132849 36 0 0 35 9 20.4545 MGEA5 0 genome.wustl.edu 37 10 103560146 103560146 + Missense_Mutation SNP C C G TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 10 103560146 103560146 C G SNP MGEA5 ENST00000361464 human ensembl 74_37 -1 known missense c.1048 p.D350H 1.000 superfamily_Glycoside_hydrolase_SF pfam_Beta-N-acetylglucosaminidase,superfamily_Glycoside_hydrolase_SF,superfamily_Acyl_CoA_acyltransferase - no_errors MGEA5 HGNC ENSG00000198408 36 0 0 27 7 20.5882 SMC3 0 genome.wustl.edu 37 10 112343632 112343632 + Missense_Mutation SNP G G C TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 10 112343632 112343632 G C SNP SMC3 ENST00000361804 human ensembl 74_37 +1 known missense c.1003 p.E335Q 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC3 HGNC ENSG00000108055 33 0 0 25 7 21.875 ST8SIA6 0 genome.wustl.edu 37 10 17369099 17369099 + Nonsense_Mutation SNP A A T TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 10 17369099 17369099 A T SNP ST8SIA6 ENST00000377602 human ensembl 74_37 -1 known nonsense c.549 p.Y183* 0.029 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA6 HGNC ENSG00000148488 86 0 0 85 27 24.1071 ARMC4 0 genome.wustl.edu 37 10 28225713 28225713 + Silent SNP A A G TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 10 28225713 28225713 A G SNP ARMC4 ENST00000305242 human ensembl 74_37 -1 known silent c.2194 p.L732 0.005 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ENSG00000169126 153 0 0 120 42 25.9259 ZNF487 0 genome.wustl.edu 37 10 43971212 43971212 + Missense_Mutation SNP A A G TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 10 43971212 43971212 A G SNP ZNF487 ENST00000431662 human ensembl 74_37 +1 known missense c.146 p.E49G 0.802 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF487 HGNC ENSG00000243660 53 0 0 39 12 23.5294 ERCC6 0 genome.wustl.edu 37 10 50684291 50684291 + Missense_Mutation SNP T T G TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 10 50684291 50684291 T G SNP ERCC6 ENST00000355832 human ensembl 74_37 -1 known missense c.2352 p.E784D 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 45 0 0 36 12 25 MCU 0 genome.wustl.edu 37 10 74644061 74644061 + Missense_Mutation SNP T T C TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 10 74644061 74644061 T C SNP MCU ENST00000373053 human ensembl 74_37 +1 known missense c.899 p.L300S 1.000 pfam_Coiled-coil-dom_prot_109_C pfam_Coiled-coil-dom_prot_109_C - no_errors MCU HGNC ENSG00000156026 47 0 0 42 10 19.2308 TRPC6 0 genome.wustl.edu 37 11 101375497 101375497 + Missense_Mutation SNP C C T TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 11 101375497 101375497 C T SNP TRPC6 ENST00000344327 human ensembl 74_37 -1 known missense c.203 p.R68Q 1.000 NULL pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC6 HGNC ENSG00000137672 105 0 0 80 36 31.0345 KCNJ5 0 genome.wustl.edu 37 11 128786562 128786562 + Missense_Mutation SNP A A G TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 11 128786562 128786562 A G SNP KCNJ5 ENST00000529694 human ensembl 74_37 +1 known missense c.1196 p.E399G 1.000 pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.4 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.4 - no_errors KCNJ5 HGNC ENSG00000120457 12 0 0 10 4 28.5714 PIK3C2A 0 genome.wustl.edu 37 11 17134164 17134164 + Missense_Mutation SNP A A G TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 11 17134164 17134164 A G SNP PIK3C2A ENST00000265970 human ensembl 74_37 -1 known missense c.3371 p.V1124A 1.000 superfamily_Kinase-like_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2A HGNC ENSG00000011405 145 0 0 103 39 27.4648 RIC8A 0 genome.wustl.edu 37 11 209576 209576 + Missense_Mutation SNP C C T TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 11 209576 209576 C T SNP RIC8A ENST00000325207 human ensembl 74_37 +1 known missense c.302 p.S101F 0.068 pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold,prints_Synembryn - no_errors RIC8A HGNC ENSG00000177963 37 0 0 27 6 18.1818 KIAA1549L 0 genome.wustl.edu 37 11 33589720 33589720 + Missense_Mutation SNP C C A TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 11 33589720 33589720 C A SNP KIAA1549L ENST00000389726 human ensembl 74_37 +1 known missense c.3304 p.Q1102K 1.000 NULL NULL - no_errors KIAA1549L HGNC ENSG00000110427 23 0 0 30 6 16.6667 RRM1 0 genome.wustl.edu 37 11 4150363 4150363 + Silent SNP C C T TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 11 4150363 4150363 C T SNP RRM1 ENST00000300738 human ensembl 74_37 +1 known silent c.1752 p.L584 0.877 pfam_RNR_lg_C,tigrfam_NrdE_NrdA pfam_RNR_lg_C,pfam_RNR_lsu_N,pfam_ATP-cone,superfamily_RNR_R1-su_N,pfscan_ATP-cone,prints_RNR_lg_C,tigrfam_NrdE_NrdA - no_errors RRM1 HGNC ENSG00000167325 66 0 0 39 18 31.5789 TRIM51 0 genome.wustl.edu 37 11 55653661 55653661 + Silent SNP G G C TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 11 55653661 55653661 G C SNP TRIM51 ENST00000449290 human ensembl 74_37 +1 known silent c.474 p.L158 0.061 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM51 HGNC ENSG00000124900 63 0 0 54 4 6.89655 SLC29A2 0 genome.wustl.edu 37 11 66134945 66134945 + Silent SNP G G C TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 11 66134945 66134945 G C SNP SLC29A2 ENST00000357440 human ensembl 74_37 -1 known silent c.723 p.L241 0.999 pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,tigrfam_Eqnu_transpt pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt - no_errors SLC29A2 HGNC ENSG00000174669 136 0 0 95 47 33.0986 DPP3 0 genome.wustl.edu 37 11 66249853 66249853 + Missense_Mutation SNP C C A TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 11 66249853 66249853 C A SNP DPP3 ENST00000360510 human ensembl 74_37 +1 known missense c.182 p.A61D 1.000 pirsf_Dipeptidyl-peptase3 pirsf_Dipeptidyl-peptase3 - no_errors DPP3 HGNC ENSG00000254986 79 0 0 64 6 8.57143 NADSYN1 0 genome.wustl.edu 37 11 71191857 71191857 + Missense_Mutation SNP C C G TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 11 71191857 71191857 C G SNP NADSYN1 ENST00000319023 human ensembl 74_37 +1 known missense c.930 p.H310Q 0.000 pirsf_Gln-dep_NAD_synthase pfam_C-N_Hydrolase,pfam_NAD/GMP_synthase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase,tigrfam_NAD_synthase - no_errors NADSYN1 HGNC ENSG00000172890 62 0 0 46 4 8 FAT3 0 genome.wustl.edu 37 11 92087259 92087259 + Missense_Mutation SNP C C G TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 11 92087259 92087259 C G SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.1981 p.L661V 0.926 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 11 0 0 32 10 23.8095 FAT3 0 genome.wustl.edu 37 11 92569850 92569850 + Missense_Mutation SNP A A C TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 11 92569850 92569850 A C SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.10205 p.K3402T 1.000 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 46 0 0 36 10 21.7391 TCTN2 0 genome.wustl.edu 37 12 124163753 124163753 + Missense_Mutation SNP C C T TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 12 124163753 124163753 C T SNP TCTN2 ENST00000303372 human ensembl 74_37 +1 known missense c.481 p.P161S 0.990 NULL pfam_DUF1619 - no_errors TCTN2 HGNC ENSG00000168778 134 0 0 116 35 23.1788 RIMBP2 0 genome.wustl.edu 37 12 130926490 130926490 + Silent SNP C C A TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 12 130926490 130926490 C A SNP RIMBP2 ENST00000261655 human ensembl 74_37 -1 known silent c.1356 p.V452 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 79 0 0 56 21 27.2727 SMARCC2 0 genome.wustl.edu 37 12 56572211 56572211 + Silent SNP G G A TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 12 56572211 56572211 G A SNP SMARCC2 ENST00000267064 human ensembl 74_37 -1 known silent c.1287 p.Y429 0.109 pfam_SWIRM,superfamily_Homeodomain-like,superfamily_Chromodomain-like,pfscan_SWIRM pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 140 0 0 121 61 33.5165 AGAP2 0 genome.wustl.edu 37 12 58135698 58135698 + Nonsense_Mutation SNP G G A TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 12 58135698 58135698 G A SNP AGAP2 ENST00000257897 human ensembl 74_37 -1 known nonsense c.157 p.R53* 0.059 NULL pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP2 HGNC ENSG00000135439 121 0 0 97 47 32.6389 ANO2 0 genome.wustl.edu 37 12 6030460 6030460 + Missense_Mutation SNP C C T TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 12 6030460 6030460 C T SNP ANO2 ENST00000356134 human ensembl 74_37 -1 known missense c.268 p.D90N 0.986 NULL pfam_Anoctamin - no_errors ANO2 HGNC ENSG00000047617 62 0 0 32 20 38.4615 HELB 0 genome.wustl.edu 37 12 66704241 66704241 + Silent SNP G G A TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 12 66704241 66704241 G A SNP HELB ENST00000247815 human ensembl 74_37 +1 known silent c.1533 p.Q511 0.028 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors HELB HGNC ENSG00000127311 89 0 0 66 21 24.1379 CCNA1 0 genome.wustl.edu 37 13 37011820 37011820 + Missense_Mutation SNP G G A TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 13 37011820 37011820 G A SNP CCNA1 ENST00000255465 human ensembl 74_37 +1 known missense c.352 p.G118R 1.000 pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNA1 HGNC ENSG00000133101 70 0 0 30 17 36.1702 RNASE11 0 genome.wustl.edu 37 14 21052221 21052221 + Missense_Mutation SNP T T C TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 14 21052221 21052221 T C SNP RNASE11 ENST00000398008 human ensembl 74_37 -1 known missense c.413 p.K138R 0.010 pfam_RNaseA_domain,superfamily_RNaseA_domain pfam_RNaseA_domain,superfamily_RNaseA_domain - no_errors RNASE11 HGNC ENSG00000173464 25 0 0 18 9 33.3333 DCAF5 0 genome.wustl.edu 37 14 69521482 69521482 + Missense_Mutation SNP C C G TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 14 69521482 69521482 C G SNP DCAF5 ENST00000341516 human ensembl 74_37 -1 known missense c.1921 p.E641Q 0.992 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF5 HGNC ENSG00000139990 85 0 0 35 16 31.3725 SIPA1L1 0 genome.wustl.edu 37 14 72152218 72152218 + Missense_Mutation SNP C C G TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 14 72152218 72152218 C G SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known missense c.3244 p.P1082A 0.989 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 27 0 0 19 8 29.6296 DNM1P47 0 genome.wustl.edu 37 15 102300094 102300094 + RNA SNP G G T TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 15 102300094 102300094 G T SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DNM1P47 HGNC ENSG00000259660 15 0 0 11 7 38.8889 HERC2P3 0 genome.wustl.edu 37 15 20645830 20645830 + RNA SNP G G A TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 15 20645830 20645830 G A SNP HERC2P3 ENST00000426501 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HERC2P3 HGNC ENSG00000180229 73 0 0 40 13 24.5283 DISP2 0 genome.wustl.edu 37 15 40659610 40659610 + Missense_Mutation SNP C C T TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 15 40659610 40659610 C T SNP DISP2 ENST00000267889 human ensembl 74_37 +1 known missense c.1297 p.L433F 1.000 NULL pfscan_SSD - no_errors DISP2 HGNC ENSG00000140323 415 0 0 208 113 35.2025 KNSTRN 0 genome.wustl.edu 37 15 40675072 40675072 + Silent SNP T T A TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 15 40675072 40675072 T A SNP KNSTRN ENST00000249776 human ensembl 74_37 +1 known silent c.36 p.V12 0.005 NULL NULL - no_errors KNSTRN HGNC ENSG00000128944 26 0 0 11 8 42.1053 UNC13C 0 genome.wustl.edu 37 15 54586249 54586249 + Silent SNP C C G TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 15 54586249 54586249 C G SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known silent c.3975 p.V1325 0.999 superfamily_C2_dom,smart_C2_dom 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 156 0 0 103 45 30.4054 UNC13C 0 genome.wustl.edu 37 15 54586259 54586259 + Silent SNP T T C TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 15 54586259 54586259 T C SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known silent c.3985 p.L1329 0.973 superfamily_C2_dom 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 132 0 0 95 42 30.6569 RPS2 0 genome.wustl.edu 37 16 2012182 2012182 + Missense_Mutation SNP G G C TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 16 2012182 2012182 G C SNP RPS2 ENST00000343262 human ensembl 74_37 -1 known missense c.799 p.Q267E 1.000 NULL pfam_Ribosomal_S5_N,pfam_Ribosomal_S5_C,superfamily_Ribosomal_S5_D2-typ_fold,pfscan_Ribosomal_S5_N,tigrfam_Ribosomal_S5_euk/arc - no_errors RPS2 HGNC ENSG00000140988 46 0 0 35 8 18.6047 PKD1 0 genome.wustl.edu 37 16 2158940 2158940 + Silent SNP C C T TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 16 2158940 2158940 C T SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known silent c.6228 p.S2076 0.004 pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 9 0 0 6 4 40 MMP2 0 genome.wustl.edu 37 16 55519555 55519555 + Missense_Mutation SNP G G A TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 16 55519555 55519555 G A SNP MMP2 ENST00000219070 human ensembl 74_37 +1 known missense c.698 p.C233Y 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 168 0 0 153 37 19.4737 DNAH9 0 genome.wustl.edu 37 17 11784567 11784567 + Missense_Mutation SNP A A C TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 17 11784567 11784567 A C SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.10643 p.K3548T 0.875 superfamily_P-loop_NTPase 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 DNAH9 HGNC ENSG00000007174 92 0 0 46 22 32.3529 DHX8 0 genome.wustl.edu 37 17 41601117 41601117 + Missense_Mutation SNP C C G TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 17 41601117 41601117 C G SNP DHX8 ENST00000262415 human ensembl 74_37 +1 known missense c.3565 p.L1189V 1.000 superfamily_P-loop_NTPase pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX8 HGNC ENSG00000067596 69 0 0 61 19 23.75 BCL6B 0 genome.wustl.edu 37 17 6927900 6927900 + Nonsense_Mutation SNP G G A TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 17 6927900 6927900 G A SNP BCL6B ENST00000293805 human ensembl 74_37 +1 known nonsense c.582 p.W194* 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors BCL6B HGNC ENSG00000161940 156 0 0 63 55 46.6102 ASXL3 0 genome.wustl.edu 37 18 31325297 31325297 + Missense_Mutation SNP A A C TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 18 31325297 31325297 A C SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known missense c.5485 p.K1829Q 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 237 0 0 162 73 31.0638 OR7C1 0 genome.wustl.edu 37 19 14910261 14910261 + Missense_Mutation SNP A A C TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 19 14910261 14910261 A C SNP OR7C1 ENST00000248073 human ensembl 74_37 -1 known missense c.688 p.S230A 0.003 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 OR7C1 HGNC ENSG00000127530 52 0 0 38 12 24 ADAMTSL5 0 genome.wustl.edu 37 19 1507368 1507368 + Missense_Mutation SNP C C G TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 19 1507368 1507368 C G SNP ADAMTSL5 ENST00000413997 human ensembl 74_37 -1 known missense c.755 p.G252A 1.000 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Netrin_module_non-TIMP,pfam_Thrombospondin_1_rpt,superfamily_TIMP-like_OB-fold,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL5 HGNC ENSG00000185761 76 0 0 35 24 40.678 FAM129C 0 genome.wustl.edu 37 19 17654224 17654224 + Silent SNP C C T TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 19 17654224 17654224 C T SNP FAM129C ENST00000335393 human ensembl 74_37 +1 known silent c.1521 p.V507 0.998 NULL smart_Pleckstrin_homology - no_errors FAM129C HGNC ENSG00000167483 187 0 0 173 56 24.4541 ZNF99 0 genome.wustl.edu 37 19 22941315 22941315 + Missense_Mutation SNP A A C TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 19 22941315 22941315 A C SNP ZNF99 ENST00000397104 human ensembl 74_37 -1 known missense c.1123 p.S375A 0.000 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 ZNF99 HGNC ENSG00000213973 40 0 0 46 17 26.9841 ZNF99 0 genome.wustl.edu 37 19 22951138 22951138 + Missense_Mutation SNP C C T TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 19 22951138 22951138 C T SNP ZNF99 ENST00000397104 human ensembl 74_37 -1 known missense c.258 p.M86I 0.073 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 ZNF99 HGNC ENSG00000213973 36 0 0 33 4 10.8108 NMRK2 0 genome.wustl.edu 37 19 3941137 3941137 + Missense_Mutation SNP A A C TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 19 3941137 3941137 A C SNP NMRK2 ENST00000168977 human ensembl 74_37 +1 known missense c.464 p.K155T 0.998 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors NMRK2 HGNC ENSG00000077009 118 0 0 51 40 43.956 CYP2A13 0 genome.wustl.edu 37 19 41594548 41594548 + Missense_Mutation SNP C C T TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 19 41594548 41594548 C T SNP CYP2A13 ENST00000330436 human ensembl 74_37 +1 known missense c.172 p.L58F 0.403 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP2A13 HGNC ENSG00000197838 117 0 0 99 30 23.2558 CPT1C 0 genome.wustl.edu 37 19 50195541 50195541 + Missense_Mutation SNP G G A TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 19 50195541 50195541 G A SNP CPT1C ENST00000323446 human ensembl 74_37 +1 known missense c.32 p.R11Q 0.435 NULL pfam_Carn_acyl_trans - no_errors CPT1C HGNC ENSG00000169169 76 0 0 64 24 27.2727 MBOAT7 0 genome.wustl.edu 37 19 54678010 54678010 + Silent SNP G G A TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 19 54678010 54678010 G A SNP MBOAT7 ENST00000245615 human ensembl 74_37 -1 known silent c.1147 p.L383 0.478 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors MBOAT7 HGNC ENSG00000125505 101 0 0 83 29 25.8929 LILRB2 0 genome.wustl.edu 37 19 54783279 54783279 + Silent SNP C C T TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 19 54783279 54783279 C T SNP LILRB2 ENST00000391749 human ensembl 74_37 -1 known silent c.579 p.S193 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB2 HGNC ENSG00000131042 109 0 0 87 43 33.0769 NLRP2 0 genome.wustl.edu 37 19 55494426 55494426 + Missense_Mutation SNP G G T TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 19 55494426 55494426 G T SNP NLRP2 ENST00000448584 human ensembl 74_37 +1 known missense c.1360 p.A454S 0.161 NULL 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 NLRP2 HGNC ENSG00000022556 32 0 0 22 11 33.3333 NLRP8 0 genome.wustl.edu 37 19 56466706 56466706 + Missense_Mutation SNP G G A TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 19 56466706 56466706 G A SNP NLRP8 ENST00000291971 human ensembl 74_37 +1 known missense c.1282 p.V428I 0.037 NULL 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 NLRP8 HGNC ENSG00000179709 111 0 0 109 34 23.7762 MUC16 0 genome.wustl.edu 37 19 9087815 9087815 + Missense_Mutation SNP T T G TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 19 9087815 9087815 T G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.4000 p.S1334R 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 48 0 0 36 12 25 TTN 0 genome.wustl.edu 37 2 179443761 179443761 + Missense_Mutation SNP C C A TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 2 179443761 179443761 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.60292 p.A20098S 0.997 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 37 0 0 19 7 26.9231 ZNF804A 0 genome.wustl.edu 37 2 185800768 185800768 + Silent SNP T T G TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 2 185800768 185800768 T G SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known silent c.645 p.S215 0.998 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 52 0 0 34 38 52.7778 TMC2 0 genome.wustl.edu 37 20 2591146 2591146 + Missense_Mutation SNP C C T TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 20 2591146 2591146 C T SNP TMC2 ENST00000358864 human ensembl 74_37 +1 known missense c.1495 p.R499C 1.000 NULL pfam_TMC - no_errors TMC2 HGNC ENSG00000149488 146 0 0 92 46 33.3333 NECAB3 0 genome.wustl.edu 37 20 32247529 32247529 + Missense_Mutation SNP G G A TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 20 32247529 32247529 G A SNP NECAB3 ENST00000246190 human ensembl 74_37 -1 known missense c.653 p.S218L 0.345 NULL pfam_Antibiotic_mOase,pfam_EF_hand_dom,superfamily_Dimeric_a/b-barrel,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NECAB3 HGNC ENSG00000125967 9 0 0 15 10 40 C20orf195 0 genome.wustl.edu 37 20 62187743 62187743 + Missense_Mutation SNP C C T TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 20 62187743 62187743 C T SNP C20orf195 ENST00000370097 human ensembl 74_37 +1 known missense c.727 p.R243C 1.000 superfamily_Fibronectin_type3 superfamily_Fibronectin_type3 - no_errors C20orf195 HGNC ENSG00000125531 173 0 0 199 61 23.4615 TIAM1 0 genome.wustl.edu 37 21 32639245 32639245 + Missense_Mutation SNP C C A TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 21 32639245 32639245 C A SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known missense c.44 p.G15V 0.706 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 50 0 0 39 11 22 TTC3 0 genome.wustl.edu 37 21 38462540 38462540 + Nonsense_Mutation SNP C C A TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 21 38462540 38462540 C A SNP TTC3 ENST00000354749 human ensembl 74_37 +1 known nonsense c.434 p.S145* 0.962 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 47 0 0 34 9 20.9302 IFT57 0 genome.wustl.edu 37 3 107925507 107925507 + Missense_Mutation SNP G G A TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 3 107925507 107925507 G A SNP IFT57 ENST00000264538 human ensembl 74_37 -1 known missense c.622 p.L208F 1.000 pfam_Intra-flagellar_transport_57 pfam_Intra-flagellar_transport_57,superfamily_t-SNARE - no_errors IFT57 HGNC ENSG00000114446 68 0 0 64 24 27.2727 SLC41A3 0 genome.wustl.edu 37 3 125725937 125725937 + Silent SNP G G C TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 3 125725937 125725937 G C SNP SLC41A3 ENST00000360370 human ensembl 74_37 -1 known silent c.1386 p.L462 0.993 pfam_SLC41_membr_dom pfam_SLC41_membr_dom,superfamily_Acyl_Trfase/lysoPLipase - no_errors SLC41A3 HGNC ENSG00000114544 71 0 0 66 26 28.2609 ATR 0 genome.wustl.edu 37 3 142178073 142178073 + Missense_Mutation SNP A A G TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 3 142178073 142178073 A G SNP ATR ENST00000350721 human ensembl 74_37 -1 known missense c.7345 p.S2449P 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 40 0 0 59 17 22.3684 KBTBD8 0 genome.wustl.edu 37 3 67054656 67054656 + Missense_Mutation SNP C C T TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 3 67054656 67054656 C T SNP KBTBD8 ENST00000417314 human ensembl 74_37 +1 known missense c.1265 p.T422M 0.639 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD8 HGNC ENSG00000163376 181 1 0.549451 164 9 5.20231 MAB21L2 0 genome.wustl.edu 37 4 151504538 151504538 + Silent SNP G G A TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 4 151504538 151504538 G A SNP MAB21L2 ENST00000317605 human ensembl 74_37 +1 known silent c.357 p.A119 1.000 pfam_Mab-21_dom pfam_Mab-21_dom,pfscan_Ricin_B_lectin - no_errors MAB21L2 HGNC ENSG00000181541 94 0 0 86 12 12.2449 KDR 0 genome.wustl.edu 37 4 55984781 55984781 + Silent SNP G G C TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 4 55984781 55984781 G C SNP KDR ENST00000263923 human ensembl 74_37 -1 known silent c.348 p.V116 1.000 smart_Ig_sub 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 27 20 42.5532 PRKG2 0 genome.wustl.edu 37 4 82013550 82013550 + Nonsense_Mutation SNP A A T TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 4 82013550 82013550 A T SNP PRKG2 ENST00000264399 human ensembl 74_37 -1 known nonsense c.2183 p.L728* 1.000 superfamily_Kinase-like_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin - no_errors PRKG2 HGNC ENSG00000138669 57 0 0 41 21 33.871 MMRN1 0 genome.wustl.edu 37 4 90874420 90874420 + Missense_Mutation SNP G G A TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 4 90874420 90874420 G A SNP MMRN1 ENST00000264790 human ensembl 74_37 +1 known missense c.3538 p.E1180K 0.977 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MMRN1 HGNC ENSG00000138722 108 0 0 61 42 40.7767 SMARCAD1 0 genome.wustl.edu 37 4 95129681 95129681 + Missense_Mutation SNP G G C TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 4 95129681 95129681 G C SNP SMARCAD1 ENST00000359052 human ensembl 74_37 +1 known missense c.136 p.E46Q 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAD1 HGNC ENSG00000163104 73 0 0 52 25 32.4675 PCDHB10 0 genome.wustl.edu 37 5 140573400 140573400 + Silent SNP C C T TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 5 140573400 140573400 C T SNP PCDHB10 ENST00000239446 human ensembl 74_37 +1 known silent c.1275 p.D425 0.209 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 PCDHB10 HGNC ENSG00000120324 98 0 0 75 24 24.2424 MSH3 0 genome.wustl.edu 37 5 79974821 79974821 + Missense_Mutation SNP C C T TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 5 79974821 79974821 C T SNP MSH3 ENST00000265081 human ensembl 74_37 +1 known missense c.1249 p.R417W 0.977 pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mmatch_repair_MutS_con_dom 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 173 0 0 152 19 11.1111 MED23 0 genome.wustl.edu 37 6 131940974 131940974 + Silent SNP G G T TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 6 131940974 131940974 G T SNP MED23 ENST00000368058 human ensembl 74_37 -1 known silent c.660 p.S220 1.000 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC ENSG00000112282 62 0 0 63 11 14.8649 GINM1 0 genome.wustl.edu 37 6 149893482 149893482 + Splice_Site SNP T T C TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 6 149893482 149893482 T C SNP GINM1 ENST00000367419 human ensembl 74_37 +1 known splice_site c.180+2 e2+2 1.000 - - - no_errors GINM1 HGNC ENSG00000055211 43 0 0 35 17 32.6923 ZNF184 0 genome.wustl.edu 37 6 27425141 27425141 + Silent SNP T T C TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 6 27425141 27425141 T C SNP ZNF184 ENST00000211936 human ensembl 74_37 -1 known silent c.123 p.E41 1.000 pfam_Krueppel-associated_box,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 ZNF184 HGNC ENSG00000096654 95 0 0 86 33 27.7311 SKIV2L 0 genome.wustl.edu 37 6 31930557 31930557 + Silent SNP C C T TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 6 31930557 31930557 C T SNP SKIV2L ENST00000375394 human ensembl 74_37 +1 known silent c.1278 p.H426 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L HGNC ENSG00000204351 82 0 0 72 31 30.0971 PPP2R5D 0 genome.wustl.edu 37 6 42974807 42974807 + Missense_Mutation SNP G G A TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 6 42974807 42974807 G A SNP PPP2R5D ENST00000485511 human ensembl 74_37 +1 known missense c.481 p.D161N 1.000 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5D HGNC ENSG00000112640 93 0 0 87 42 32.5581 DEFB110 0 genome.wustl.edu 37 6 49989635 49989635 + Missense_Mutation SNP A A C TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 6 49989635 49989635 A C SNP DEFB110 ENST00000371148 human ensembl 74_37 -1 known missense c.14 p.L5R 0.894 NULL NULL - no_errors DEFB110 HGNC ENSG00000203970 33 0 0 34 9 20.9302 FHL5 0 genome.wustl.edu 37 6 97063607 97063607 + Missense_Mutation SNP T T G TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 6 97063607 97063607 T G SNP FHL5 ENST00000326771 human ensembl 74_37 +1 known missense c.814 p.F272V 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FHL5 HGNC ENSG00000112214 48 0 0 26 16 38.0952 BRAF 0 genome.wustl.edu 37 7 140453155 140453155 + Missense_Mutation SNP C C T TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 7 140453155 140453155 C T SNP BRAF ENST00000288602 human ensembl 74_37 -1 known missense c.1780 p.D594N 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors BRAF HGNC ENSG00000157764 74 0 0 86 10 10.4167 CSMD3 0 genome.wustl.edu 37 8 113418893 113418893 + Missense_Mutation SNP A A G TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 8 113418893 113418893 A G SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.5669 p.I1890T 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP 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 CSMD3 HGNC ENSG00000164796 109 0 0 146 12 7.59494 DEPTOR 0 genome.wustl.edu 37 8 120940688 120940688 + Silent SNP C C T TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 8 120940688 120940688 C T SNP DEPTOR ENST00000286234 human ensembl 74_37 +1 known silent c.171 p.L57 0.996 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_DEP_dom,superfamily_PDZ,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ - no_errors DEPTOR HGNC ENSG00000155792 83 0 0 64 27 29.6703 MYOM2 0 genome.wustl.edu 37 8 2027679 2027679 + Missense_Mutation SNP C C G TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 8 2027679 2027679 C G SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known missense c.1501 p.Q501E 0.761 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM2 HGNC ENSG00000036448 337 0 0 256 83 24.4838 TEX15 0 genome.wustl.edu 37 8 30694922 30694922 + Nonsense_Mutation SNP C C A TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 8 30694922 30694922 C A SNP TEX15 ENST00000256246 human ensembl 74_37 -1 known nonsense c.7729 p.E2577* 0.206 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 78 0 0 78 29 27.1028 UNC5D 0 genome.wustl.edu 37 8 35402022 35402022 + Missense_Mutation SNP C C A TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 8 35402022 35402022 C A SNP UNC5D ENST00000453357 human ensembl 74_37 +1 known missense c.57 p.F19L 0.000 NULL pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5D HGNC ENSG00000156687 69 0 0 57 19 25 SARDH 0 genome.wustl.edu 37 9 136550315 136550315 + Silent SNP C C G TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 9 136550315 136550315 C G SNP SARDH ENST00000371872 human ensembl 74_37 -1 known silent c.2163 p.L721 1.000 pfam_GCV_T_N pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C - no_errors SARDH HGNC ENSG00000123453 26 0 0 23 5 17.8571 B4GALT1 0 genome.wustl.edu 37 9 33113578 33113578 + Missense_Mutation SNP G G T TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 9 33113578 33113578 G T SNP B4GALT1 ENST00000379731 human ensembl 74_37 -1 known missense c.1071 p.D357E 1.000 pfam_Galactosyl_T_C pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT1 HGNC ENSG00000086062 43 0 0 41 8 16.3265 DOCK8 0 genome.wustl.edu 37 9 463546 463546 + Missense_Mutation SNP G G A TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 9 463546 463546 G A SNP DOCK8 ENST00000453981 human ensembl 74_37 +1 known missense c.6098 p.R2033H 0.998 pfam_DOCK_C pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 52 0 0 47 17 26.5625 FRMD3 0 genome.wustl.edu 37 9 85964645 85964645 + Missense_Mutation SNP C C T TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 9 85964645 85964645 C T SNP FRMD3 ENST00000304195 human ensembl 74_37 -1 known missense c.323 p.R108K 1.000 pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin_like pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FRMD3 HGNC ENSG00000172159 37 0 0 10 8 44.4444 UBQLN2 0 genome.wustl.edu 37 X 56592015 56592015 + Missense_Mutation SNP C C T TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 X 56592015 56592015 C T SNP UBQLN2 ENST00000338222 human ensembl 74_37 +1 known missense c.1709 p.A570V 0.688 NULL pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,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 UBQLN2 HGNC ENSG00000188021 52 0 0 14 16 53.3333 NLGN4X 0 genome.wustl.edu 37 X 5811357 5811357 + Missense_Mutation SNP T T A TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 X 5811357 5811357 T A SNP NLGN4X ENST00000381093 human ensembl 74_37 -1 known missense c.2012 p.K671M 1.000 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 229 0 0 122 82 40.1961 PCDH19 0 genome.wustl.edu 37 X 99661892 99661892 + Silent SNP C C T TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 X 99661892 99661892 C T SNP PCDH19 ENST00000373034 human ensembl 74_37 -1 known silent c.1704 p.L568 1.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 105 0 0 63 25 28.4091 TP53 0 genome.wustl.edu 37 17 7578547 7578547 + Frame_Shift_Del DEL G G - TCGA-HF-7131-01A-11D-2053-08 TCGA-HF-7131-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35a27ae2-2fe9-419a-b79d-6ca55608ff30 3b0b9f9e-a1ff-4163-9b32-2adf228ff889 17 7578547 7578547 G - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_del c.383 p.P128fs 0.106 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 32 0 0 29 16 35.5556