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 ADORA3 0 genome.wustl.edu 37 1 112031538 112031538 + Missense_Mutation SNP C C T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 1 112031538 112031538 C T SNP ADORA3 ENST00000369716 human ensembl 74_37 -1 known missense c.566 p.R189Q 0.988 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A3_rcpt,prints_GPCR_Rhodpsn - no_errors ADORA3 HGNC ENSG00000121933 76 0 0 36 7 16.2791 NOTCH2 0 genome.wustl.edu 37 1 120493400 120493400 + Missense_Mutation SNP G G T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 1 120493400 120493400 G T SNP NOTCH2 ENST00000256646 human ensembl 74_37 -1 known missense c.2426 p.T809N 1.000 pirsf_Notch,pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 135 0 0 100 10 9.09091 HRNR 0 genome.wustl.edu 37 1 152188175 152188175 + Missense_Mutation SNP C C T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 1 152188175 152188175 C T SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.5930 p.R1977H 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 535 1 0.186567 450 27 5.66038 PRCC 0 genome.wustl.edu 37 1 156756769 156756769 + Missense_Mutation SNP C C T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 1 156756769 156756769 C T SNP PRCC ENST00000271526 human ensembl 74_37 +1 known missense c.886 p.P296S 0.994 NULL pfam_PRCC - no_errors PRCC HGNC ENSG00000143294 76 0 0 34 16 32 IGSF9 0 genome.wustl.edu 37 1 159897636 159897636 + Missense_Mutation SNP T T G TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 1 159897636 159897636 T G SNP IGSF9 ENST00000368094 human ensembl 74_37 -1 known missense c.3272 p.E1091A 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF9 HGNC ENSG00000085552 59 0 0 37 9 19.5652 CROCCP2 0 genome.wustl.edu 37 1 16952377 16952377 + RNA SNP C C T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 1 16952377 16952377 C T SNP CROCCP2 ENST00000412962 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CROCCP2 HGNC ENSG00000215908 16 0 0 12 4 25 FMO4 0 genome.wustl.edu 37 1 171310946 171310946 + Missense_Mutation SNP T T C TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 1 171310946 171310946 T C SNP FMO4 ENST00000367749 human ensembl 74_37 +1 known missense c.1645 p.S549P 0.007 prints_Flavin_mOase_4 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_4,prints_Flavin_mOase_1,prints_Flavin_mOase_3 - no_errors FMO4 HGNC ENSG00000076258 47 0 0 26 8 23.5294 TNFSF4 0 genome.wustl.edu 37 1 173176198 173176198 + Missense_Mutation SNP A A G TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 1 173176198 173176198 A G SNP TNFSF4 ENST00000281834 human ensembl 74_37 -1 known missense c.118 p.F40L 0.275 NULL pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom - no_errors TNFSF4 HGNC ENSG00000117586 50 0 0 34 3 8.10811 RABGAP1L 0 genome.wustl.edu 37 1 174210735 174210735 + Missense_Mutation SNP G G C TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 1 174210735 174210735 G C SNP RABGAP1L ENST00000251507 human ensembl 74_37 +1 known missense c.657 p.E219D 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1L HGNC ENSG00000152061 63 0 0 37 6 13.9535 PRG4 0 genome.wustl.edu 37 1 186276394 186276394 + Missense_Mutation SNP T T G TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 1 186276394 186276394 T G SNP PRG4 ENST00000445192 human ensembl 74_37 +1 known missense c.1543 p.S515A 0.000 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom - no_errors PRG4 HGNC ENSG00000116690 122 1 0.813008 102 15 12.8205 UBR4 0 genome.wustl.edu 37 1 19467343 19467343 + Silent SNP G G A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 1 19467343 19467343 G A SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known silent c.8532 p.S2844 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 23 0 0 23 2 8 HP1BP3 0 genome.wustl.edu 37 1 21071490 21071490 + Missense_Mutation SNP G G A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 1 21071490 21071490 G A SNP HP1BP3 ENST00000312239 human ensembl 74_37 -1 known missense c.1462 p.R488W 0.126 NULL pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15 - no_errors HP1BP3 HGNC ENSG00000127483 71 0 0 35 3 7.89474 OR2M2 0 genome.wustl.edu 37 1 248344198 248344198 + Missense_Mutation SNP T T A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 1 248344198 248344198 T A SNP OR2M2 ENST00000359682 human ensembl 74_37 +1 known missense c.911 p.I304N 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M2 HGNC ENSG00000198601 199 0 0 105 10 8.69565 CEP104 0 genome.wustl.edu 37 1 3751622 3751622 + Missense_Mutation SNP C C T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 1 3751622 3751622 C T SNP CEP104 ENST00000378230 human ensembl 74_37 -1 known missense c.1352 p.R451Q 1.000 superfamily_ARM-type_fold superfamily_Galactose-bd-like,superfamily_ARM-type_fold - no_errors CEP104 HGNC ENSG00000116198 27 0 0 23 2 8 RAVER2 0 genome.wustl.edu 37 1 65255185 65255185 + Missense_Mutation SNP G G A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 1 65255185 65255185 G A SNP RAVER2 ENST00000294428 human ensembl 74_37 +1 known missense c.1093 p.A365T 0.107 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RAVER2 HGNC ENSG00000162437 101 0 0 50 5 9.09091 EBF3 0 genome.wustl.edu 37 10 131760472 131760472 + Missense_Mutation SNP T T A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 10 131760472 131760472 T A SNP EBF3 ENST00000355311 human ensembl 74_37 -1 known missense c.374 p.D125V 1.000 NULL pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF3 HGNC ENSG00000108001 104 0 0 73 5 6.41026 MPP7 0 genome.wustl.edu 37 10 28420612 28420612 + Silent SNP G G C TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 10 28420612 28420612 G C SNP MPP7 ENST00000337532 human ensembl 74_37 -1 known silent c.324 p.L108 0.961 pfam_L27_C,smart_L27,pfscan_L27 pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_SH3_domain - no_errors MPP7 HGNC ENSG00000150054 86 0 0 28 3 9.67742 NRP1 0 genome.wustl.edu 37 10 33469182 33469182 + Missense_Mutation SNP C C T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 10 33469182 33469182 C T SNP NRP1 ENST00000265371 human ensembl 74_37 -1 known missense c.2594 p.S865N 0.999 pirsf_Neuropilin,pfam_Neuropilin1_C pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom - no_errors NRP1 HGNC ENSG00000099250 142 0 0 68 9 11.6883 CWF19L2 0 genome.wustl.edu 37 11 107309851 107309851 + Missense_Mutation SNP G G T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 11 107309851 107309851 G T SNP CWF19L2 ENST00000282251 human ensembl 74_37 -1 known missense c.629 p.P210Q 1.000 NULL pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like - no_errors CWF19L2 HGNC ENSG00000152404 30 0 0 25 2 7.40741 OR10G8 0 genome.wustl.edu 37 11 123901046 123901046 + Silent SNP C C A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 11 123901046 123901046 C A SNP OR10G8 ENST00000431524 human ensembl 74_37 +1 known silent c.717 p.T239 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G8 HGNC ENSG00000234560 70 0 0 26 11 29.7297 PAX6 0 genome.wustl.edu 37 11 31822268 31822268 + Missense_Mutation SNP C C A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 11 31822268 31822268 C A SNP PAX6 ENST00000379107 human ensembl 74_37 -1 known missense c.536 p.G179V 1.000 NULL pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,prints_Paired_dom,pfscan_Homeobox_dom,pfscan_Paired_dom - no_errors PAX6 HGNC ENSG00000007372 163 0 0 138 11 7.38255 F2 0 genome.wustl.edu 37 11 46750282 46750282 + Missense_Mutation SNP G G A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 11 46750282 46750282 G A SNP F2 ENST00000311907 human ensembl 74_37 +1 known missense c.1367 p.R456Q 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Kringle,pfam_Thrombin_light_chain,pfam_GLA_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,superfamily_GLA_domain,smart_GLA_domain,smart_Kringle,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_GLA_domain,pfscan_Kringle,pfscan_Peptidase_S1,prints_Prothrombin/thrombin,prints_Peptidase_S1A,prints_GLA_domain - no_errors F2 HGNC ENSG00000180210 106 0 0 70 23 24.7312 UBQLN3 0 genome.wustl.edu 37 11 5528969 5528969 + Missense_Mutation SNP G G T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 11 5528969 5528969 G T SNP UBQLN3 ENST00000311659 human ensembl 74_37 -1 known missense c.1820 p.P607H 0.758 superfamily_UBA-like pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,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 UBQLN3 HGNC ENSG00000175520 76 0 0 47 6 11.3208 OR8H1 0 genome.wustl.edu 37 11 56057668 56057668 + Missense_Mutation SNP G G T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 11 56057668 56057668 G T SNP OR8H1 ENST00000313022 human ensembl 74_37 -1 known missense c.871 p.L291I 0.994 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H1 HGNC ENSG00000181693 111 0 0 44 5 10.2041 MARK2 0 genome.wustl.edu 37 11 63671514 63671514 + Missense_Mutation SNP C C T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 11 63671514 63671514 C T SNP MARK2 ENST00000402010 human ensembl 74_37 +1 known missense c.1571 p.A524V 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK2 HGNC ENSG00000072518 18 0 0 12 5 29.4118 SSSCA1 0 genome.wustl.edu 37 11 65338861 65338861 + Splice_Site SNP G G T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 11 65338861 65338861 G T SNP SSSCA1 ENST00000309328 human ensembl 74_37 +1 known splice_site c.257-1 e4-1 1.000 - - - no_errors SSSCA1 HGNC ENSG00000173465 59 0 0 48 3 5.88235 KCNK7 0 genome.wustl.edu 37 11 65361001 65361001 + Missense_Mutation SNP G G A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 11 65361001 65361001 G A SNP KCNK7 ENST00000340313 human ensembl 74_37 -1 known missense c.664 p.R222C 0.000 pirsf_2pore_dom_K_chnl_TASK,pfam_2pore_dom_K_chnl_dom pirsf_2pore_dom_K_chnl_TASK,pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TWIK - no_errors KCNK7 HGNC ENSG00000173338 53 0 0 52 5 8.77193 RBMXL2 0 genome.wustl.edu 37 11 7110411 7110411 + Silent SNP C C T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 11 7110411 7110411 C T SNP RBMXL2 ENST00000306904 human ensembl 74_37 +1 known silent c.60 p.D20 0.846 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL2 HGNC ENSG00000170748 27 0 0 22 8 26.6667 SYT9 0 genome.wustl.edu 37 11 7334764 7334764 + Silent SNP C C T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 11 7334764 7334764 C T SNP SYT9 ENST00000318881 human ensembl 74_37 +1 known silent c.636 p.D212 0.961 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT9 HGNC ENSG00000170743 110 1 0.900901 44 9 16.9811 RSF1 0 genome.wustl.edu 37 11 77378083 77378083 + Missense_Mutation SNP G G T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 11 77378083 77378083 G T SNP RSF1 ENST00000308488 human ensembl 74_37 -1 known missense c.4205 p.A1402E 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors RSF1 HGNC ENSG00000048649 139 0 0 59 13 18.0556 ENSG00000180574 0 genome.wustl.edu 37 12 10659111 10659111 + Missense_Mutation SNP T T C TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 12 10659111 10659111 T C SNP ENSG00000180574 ENST00000538173 human ensembl 74_37 +1 known missense c.610 p.Y204H 1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase pfam_EF_GTP-bd_dom,pfam_TIF2_gsu_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom - no_errors EIF2S3L Uniprot_gn ENSG00000180574 104 0 0 41 10 19.6078 SLC2A13 0 genome.wustl.edu 37 12 40265616 40265616 + Silent SNP G G T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 12 40265616 40265616 G T SNP SLC2A13 ENST00000280871 human ensembl 74_37 -1 known silent c.1182 p.T394 0.995 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Plexin-like_fold,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A13 HGNC ENSG00000151229 83 0 0 31 7 18.4211 RDH16 0 genome.wustl.edu 37 12 57351150 57351150 + Missense_Mutation SNP A A G TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 12 57351150 57351150 A G SNP RDH16 ENST00000398138 human ensembl 74_37 -1 known missense c.97 p.F33L 1.000 pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors RDH16 HGNC ENSG00000139547 148 0 0 104 19 15.4472 NAV3 0 genome.wustl.edu 37 12 78400619 78400619 + Missense_Mutation SNP G G T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 12 78400619 78400619 G T SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known missense c.1301 p.G434V 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 126 0 0 55 20 26.6667 LOC101927905 0 genome.wustl.edu 37 12 8388326 8388326 + RNA SNP G G C TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 12 8388326 8388326 G C SNP LOC101927905 ENST00000304751 human ensembl 74_37 +1 known rna NULL NULL 0.506 - - - no_errors RP11-266K4.9 Clone_based_vega_gene ENSG00000215241 46 0 0 53 7 11.6667 DCN 0 genome.wustl.edu 37 12 91558423 91558423 + Missense_Mutation SNP C C T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 12 91558423 91558423 C T SNP DCN ENST00000052754 human ensembl 74_37 -1 known missense c.283 p.E95K 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan - no_errors DCN HGNC ENSG00000011465 58 0 0 23 4 14.8148 SACS 0 genome.wustl.edu 37 13 23914670 23914670 + Silent SNP G G A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 13 23914670 23914670 G A SNP SACS ENST00000382292 human ensembl 74_37 -1 known silent c.3345 p.V1115 0.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 219 0 0 70 13 15.6627 LNX2 0 genome.wustl.edu 37 13 28143217 28143217 + Missense_Mutation SNP C C T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 13 28143217 28143217 C T SNP LNX2 ENST00000316334 human ensembl 74_37 -1 known missense c.604 p.E202K 0.999 NULL pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors LNX2 HGNC ENSG00000139517 183 0 0 101 18 15.1261 SIX6 0 genome.wustl.edu 37 14 60976612 60976612 + Missense_Mutation SNP G G A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 14 60976612 60976612 G A SNP SIX6 ENST00000327720 human ensembl 74_37 +1 known missense c.496 p.G166R 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX6 HGNC ENSG00000184302 23 0 0 15 4 21.0526 FLRT2 0 genome.wustl.edu 37 14 86089507 86089507 + Missense_Mutation SNP C C T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 14 86089507 86089507 C T SNP FLRT2 ENST00000330753 human ensembl 74_37 +1 known missense c.1649 p.A550V 0.996 NULL pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 125 0 0 71 12 14.4578 NTRK3 0 genome.wustl.edu 37 15 88476347 88476347 + Silent SNP C C A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 15 88476347 88476347 C A SNP NTRK3 ENST00000360948 human ensembl 74_37 -1 known silent c.1785 p.L595 0.999 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_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NTRK3 HGNC ENSG00000140538 71 0 0 42 5 10.6383 SYT17 0 genome.wustl.edu 37 16 19191722 19191722 + Missense_Mutation SNP C C A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 16 19191722 19191722 C A SNP SYT17 ENST00000355377 human ensembl 74_37 +1 known missense c.192 p.S64R 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT17 HGNC ENSG00000103528 85 0 0 88 13 12.8713 RRN3P2 0 genome.wustl.edu 37 16 29110458 29110458 + RNA SNP T T C TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 16 29110458 29110458 T C SNP RRN3P2 ENST00000427965 human ensembl 74_37 +1 known rna NULL NULL 0.991 - - - no_errors RRN3P2 HGNC ENSG00000103472 61 0 0 42 3 6.66667 GPR114 0 genome.wustl.edu 37 16 57608778 57608778 + Silent SNP C C T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 16 57608778 57608778 C T SNP GPR114 ENST00000340339 human ensembl 74_37 +1 known silent c.1260 p.G420 0.142 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56 - no_errors GPR114 HGNC ENSG00000159618 87 0 0 86 10 10.4167 CNOT1 0 genome.wustl.edu 37 16 58554928 58554928 + Silent SNP C C T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 16 58554928 58554928 C T SNP CNOT1 ENST00000317147 human ensembl 74_37 -1 known silent c.7065 p.S2355 0.042 pfam_CCR4-Not_Not1_C pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 68 0 0 50 8 13.7931 RHOT2 0 genome.wustl.edu 37 16 722946 722946 + Missense_Mutation SNP C C A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 16 722946 722946 C A SNP RHOT2 ENST00000315082 human ensembl 74_37 +1 known missense c.1546 p.Q516K 1.000 pirsf_Rho_GTPase_Mt,pfam_MIRO-like,superfamily_P-loop_NTPase pirsf_Rho_GTPase_Mt,pfam_EF_hand_assoc_2,pfam_MIRO-like,pfam_EF_hand_assoc_1,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,pfscan_EF_hand_dom - no_errors RHOT2 HGNC ENSG00000140983 82 0 0 72 6 7.69231 NECAB2 0 genome.wustl.edu 37 16 84005763 84005763 + Missense_Mutation SNP G G A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 16 84005763 84005763 G A SNP NECAB2 ENST00000305202 human ensembl 74_37 +1 known missense c.209 p.R70H 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NECAB2 HGNC ENSG00000103154 49 0 0 53 5 8.62069 SPECC1 0 genome.wustl.edu 37 17 20108520 20108520 + Silent SNP C C T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 17 20108520 20108520 C T SNP SPECC1 ENST00000261503 human ensembl 74_37 +1 known silent c.1158 p.S386 1.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1 HGNC ENSG00000128487 82 0 0 32 3 8.57143 CTNS 0 genome.wustl.edu 37 17 3552213 3552213 + Silent SNP G G A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 17 3552213 3552213 G A SNP CTNS ENST00000381870 human ensembl 74_37 +1 known silent c.213 p.E71 0.995 NULL smart_CTNS,tigrfam_LC_transporter - no_errors CTNS HGNC ENSG00000040531 105 0 0 43 10 18.8679 KRTAP4-6 0 genome.wustl.edu 37 17 39296167 39296167 + Silent SNP A A G TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 17 39296167 39296167 A G SNP KRTAP4-6 ENST00000345847 human ensembl 74_37 -1 known silent c.573 p.I191 0.075 NULL pfam_Keratin-assoc - no_errors KRTAP4-6 HGNC ENSG00000198090 24 0 0 24 5 17.2414 MPP2 0 genome.wustl.edu 37 17 41955298 41955298 + Silent SNP G G A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 17 41955298 41955298 G A SNP MPP2 ENST00000461854 human ensembl 74_37 -1 known silent c.1608 p.Y536 0.997 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP2 HGNC ENSG00000108852 93 0 0 58 8 12.1212 DNAH2 0 genome.wustl.edu 37 17 7735984 7735984 + Missense_Mutation SNP C C T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 17 7735984 7735984 C T SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known missense c.12814 p.R4272W 0.998 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 170 0 0 106 22 17.1875 CYB5D1 0 genome.wustl.edu 37 17 7762765 7762765 + Silent SNP C C A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 17 7762765 7762765 C A SNP CYB5D1 ENST00000332439 human ensembl 74_37 +1 known silent c.522 p.A174 1.000 NULL pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pfscan_Cyt_B5-like_heme/steroid-bd - no_errors CYB5D1 HGNC ENSG00000182224 66 0 0 27 3 10 ZNF626 0 genome.wustl.edu 37 19 20807836 20807836 + Missense_Mutation SNP T T C TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 19 20807836 20807836 T C SNP ZNF626 ENST00000601440 human ensembl 74_37 -1 known missense c.847 p.K283E 0.999 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 ZNF626 HGNC ENSG00000188171 114 0 0 31 7 18.4211 ZNF57 0 genome.wustl.edu 37 19 2917807 2917807 + Missense_Mutation SNP A A C TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 19 2917807 2917807 A C SNP ZNF57 ENST00000306908 human ensembl 74_37 +1 known missense c.1188 p.Q396H 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 ZNF57 HGNC ENSG00000171970 78 0 0 31 5 13.8889 SLC7A9 0 genome.wustl.edu 37 19 33355032 33355032 + Missense_Mutation SNP C C T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 19 33355032 33355032 C T SNP SLC7A9 ENST00000023064 human ensembl 74_37 -1 known missense c.448 p.V150I 0.941 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A9 HGNC ENSG00000021488 40 0 0 39 3 7.14286 TBCB 0 genome.wustl.edu 37 19 36616392 36616392 + Missense_Mutation SNP G G A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 19 36616392 36616392 G A SNP TBCB ENST00000221855 human ensembl 74_37 +1 known missense c.587 p.R196H 1.000 pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors TBCB HGNC ENSG00000105254 121 0 0 87 10 10.3093 CAPN12 0 genome.wustl.edu 37 19 39228953 39228953 + Missense_Mutation SNP G G A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 19 39228953 39228953 G A SNP CAPN12 ENST00000328867 human ensembl 74_37 -1 known missense c.925 p.R309C 0.997 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN12 HGNC ENSG00000182472 51 0 0 73 6 7.59494 LRRC4B 0 genome.wustl.edu 37 19 51021480 51021480 + Missense_Mutation SNP G G A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 19 51021480 51021480 G A SNP LRRC4B ENST00000389201 human ensembl 74_37 -1 known missense c.1490 p.T497M 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4B HGNC ENSG00000131409 15 0 0 16 5 23.8095 SIGLEC8 0 genome.wustl.edu 37 19 51960994 51960994 + Splice_Site SNP C C A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 19 51960994 51960994 C A SNP SIGLEC8 ENST00000321424 human ensembl 74_37 -1 known splice_site c.455-1 e2-1 0.933 - - - no_errors SIGLEC8 HGNC ENSG00000105366 115 0 0 67 9 11.8421 MIR519A1 0 genome.wustl.edu 37 19 54255697 54255697 + RNA SNP G G T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 19 54255697 54255697 G T SNP MIR519A1 ENST00000385257 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR519A1 HGNC ENSG00000207992 133 0 0 71 15 17.4419 NLRP12 0 genome.wustl.edu 37 19 54301528 54301528 + Missense_Mutation SNP G G T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 19 54301528 54301528 G T SNP NLRP12 ENST00000324134 human ensembl 74_37 -1 known missense c.2896 p.Q966K 0.004 smart_Leu-rich_rpt_RNase_inh_sub-typ 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 NLRP12 HGNC ENSG00000142405 77 0 0 81 11 11.9565 ZNF446 0 genome.wustl.edu 37 19 58991757 58991757 + Missense_Mutation SNP C C T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 19 58991757 58991757 C T SNP ZNF446 ENST00000335841 human ensembl 74_37 +1 putative missense c.932 p.A311V 0.000 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN - no_errors ZNF446 HGNC ENSG00000083838 21 0 0 20 3 13.0435 SLC9A4 0 genome.wustl.edu 37 2 103130659 103130659 + Missense_Mutation SNP A A G TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 2 103130659 103130659 A G SNP SLC9A4 ENST00000295269 human ensembl 74_37 +1 known missense c.1670 p.E557G 1.000 tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger - no_errors SLC9A4 HGNC ENSG00000180251 98 0 0 50 8 13.7931 TTN 0 genome.wustl.edu 37 2 179417608 179417608 + Missense_Mutation SNP C C G TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 2 179417608 179417608 C G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.82315 p.V27439L 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 41 0 0 14 5 26.3158 TTN 0 genome.wustl.edu 37 2 179454471 179454471 + Missense_Mutation SNP G G T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 2 179454471 179454471 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.54277 p.L18093M 1.000 superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 194 0 0 94 8 7.84314 IGFBP5 0 genome.wustl.edu 37 2 217559462 217559462 + Missense_Mutation SNP C C T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 2 217559462 217559462 C T SNP IGFBP5 ENST00000233813 human ensembl 74_37 -1 known missense c.37 p.A13T 0.992 NULL pfam_Thyroglobulin_1,pfam_IGFBP-like,superfamily_Thyroglobulin_1,superfamily_Growth_fac_rcpt_N_dom,smart_IGFBP-like,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata,prints_IGFBP-5 - no_errors IGFBP5 HGNC ENSG00000115461 8 0 0 8 3 27.2727 SLC4A3 0 genome.wustl.edu 37 2 220500552 220500552 + Silent SNP C C T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 2 220500552 220500552 C T SNP SLC4A3 ENST00000273063 human ensembl 74_37 +1 known silent c.2211 p.A737 0.207 pfam_HCO3_transpt_C,prints_Anion_exchange,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC ENSG00000114923 13 0 0 10 3 23.0769 COL4A4 0 genome.wustl.edu 37 2 227953444 227953444 + Missense_Mutation SNP G G T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 2 227953444 227953444 G T SNP COL4A4 ENST00000396625 human ensembl 74_37 -1 known missense c.1548 p.D516E 0.200 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC ENSG00000081052 79 0 0 40 7 14.8936 C2orf16 0 genome.wustl.edu 37 2 27804749 27804749 + Silent SNP T T A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 2 27804749 27804749 T A SNP C2orf16 ENST00000408964 human ensembl 74_37 +1 known silent c.5310 p.S1770 0.000 NULL NULL - no_errors C2orf16 HGNC ENSG00000221843 286 0 0 111 26 18.9781 C2orf16 0 genome.wustl.edu 37 2 27804758 27804758 + Missense_Mutation SNP A A C TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 2 27804758 27804758 A C SNP C2orf16 ENST00000408964 human ensembl 74_37 +1 known missense c.5319 p.R1773S 0.000 NULL NULL - no_errors C2orf16 HGNC ENSG00000221843 278 0 0 108 19 14.9606 C2orf16 0 genome.wustl.edu 37 2 27804782 27804782 + Missense_Mutation SNP A A C TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 2 27804782 27804782 A C SNP C2orf16 ENST00000408964 human ensembl 74_37 +1 known missense c.5343 p.R1781S 0.000 NULL NULL - no_errors C2orf16 HGNC ENSG00000221843 253 2 0.784314 90 26 22.4138 C2orf16 0 genome.wustl.edu 37 2 27804786 27804786 + Missense_Mutation SNP C C T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 2 27804786 27804786 C T SNP C2orf16 ENST00000408964 human ensembl 74_37 +1 known missense c.5347 p.H1783Y 0.001 NULL NULL - no_errors C2orf16 HGNC ENSG00000221843 244 0 0 97 25 20.4918 C2orf16 0 genome.wustl.edu 37 2 27804787 27804787 + Missense_Mutation SNP A A G TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 2 27804787 27804787 A G SNP C2orf16 ENST00000408964 human ensembl 74_37 +1 known missense c.5348 p.H1783R 0.000 NULL NULL - no_errors C2orf16 HGNC ENSG00000221843 244 1 0.408163 92 29 23.9669 SNRNP200 0 genome.wustl.edu 37 2 96944340 96944340 + Silent SNP C C T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 2 96944340 96944340 C T SNP SNRNP200 ENST00000323853 human ensembl 74_37 -1 known silent c.5433 p.A1811 0.006 smart_Sec63-dom pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC ENSG00000144028 77 0 0 64 6 8.57143 KCNG1 0 genome.wustl.edu 37 20 49620778 49620778 + Missense_Mutation SNP C C G TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 20 49620778 49620778 C G SNP KCNG1 ENST00000371571 human ensembl 74_37 -1 known missense c.1340 p.S447T 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl,prints_K_chnl_volt-dep_Kv9 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG1 HGNC ENSG00000026559 87 0 0 86 6 6.52174 ZNF831 0 genome.wustl.edu 37 20 57766245 57766245 + Silent SNP C C T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 20 57766245 57766245 C T SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel silent c.171 p.A57 0.404 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 27 0 0 28 5 15.1515 HELZ2 0 genome.wustl.edu 37 20 62196807 62196807 + Missense_Mutation SNP C C A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 20 62196807 62196807 C A SNP HELZ2 ENST00000467148 human ensembl 74_37 -1 known missense c.3368 p.H1123L 0.034 NULL superfamily_P-loop_NTPase - no_errors HELZ2 HGNC ENSG00000130589 24 0 0 34 2 5.55556 KCNJ15 0 genome.wustl.edu 37 21 39671579 39671579 + Silent SNP C C A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 21 39671579 39671579 C A SNP KCNJ15 ENST00000328656 human ensembl 74_37 +1 known silent c.396 p.V132 1.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.3,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.1 - no_errors KCNJ15 HGNC ENSG00000157551 105 0 0 60 10 14.2857 UBASH3A 0 genome.wustl.edu 37 21 43857605 43857605 + Silent SNP G G A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 21 43857605 43857605 G A SNP UBASH3A ENST00000319294 human ensembl 74_37 +1 known silent c.1401 p.A467 0.062 pfam_His_Pase_superF_clade-1 pfam_His_Pase_superF_clade-1,pfam_SH3_domain,superfamily_SH3_domain,superfamily_UBA-like,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBASH3A HGNC ENSG00000160185 95 0 0 57 5 8.06452 CECR7 0 genome.wustl.edu 37 22 17525849 17525849 + RNA SNP C C T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 22 17525849 17525849 C T SNP CECR7 ENST00000414401 human ensembl 74_37 +1 known rna NULL NULL 0.970 - - - no_errors CECR7 HGNC ENSG00000237438 39 0 0 30 11 26.8293 GGT3P 0 genome.wustl.edu 37 22 18778612 18778612 + RNA SNP C C T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 22 18778612 18778612 C T SNP GGT3P ENST00000412448 human ensembl 74_37 -1 known rna NULL NULL 0.996 - - - no_errors GGT3P HGNC ENSG00000197421 27 0 0 19 4 17.3913 CACNA1I 0 genome.wustl.edu 37 22 40057308 40057308 + Missense_Mutation SNP G G A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 22 40057308 40057308 G A SNP CACNA1I ENST00000336649 human ensembl 74_37 +1 known missense c.2912 p.R971H 1.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 32 0 0 25 3 10.7143 LSAMP 0 genome.wustl.edu 37 3 115529259 115529259 + Missense_Mutation SNP G G T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 3 115529259 115529259 G T SNP LSAMP ENST00000490035 human ensembl 74_37 -1 known missense c.922 p.P308T 1.000 smart_Ig_sub pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LSAMP HGNC ENSG00000185565 28 0 0 25 2 7.40741 CNTN6 0 genome.wustl.edu 37 3 1371510 1371510 + Missense_Mutation SNP T T G TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 3 1371510 1371510 T G SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known missense c.1255 p.S419A 0.244 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,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 CNTN6 HGNC ENSG00000134115 78 0 0 26 8 23.5294 IGSF10 0 genome.wustl.edu 37 3 151171534 151171534 + Missense_Mutation SNP C C T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 3 151171534 151171534 C T SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known missense c.353 p.R118Q 0.630 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 92 0 0 38 19 33.3333 SMC4 0 genome.wustl.edu 37 3 160143863 160143863 + Missense_Mutation SNP G G A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 3 160143863 160143863 G A SNP SMC4 ENST00000344722 human ensembl 74_37 +1 known missense c.2480 p.R827H 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase,superfamily_Chemotax_Me-accpt_rcpt_lig-bd pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC ENSG00000113810 116 0 0 28 5 15.1515 PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 74 0 0 26 11 29.7297 MUC4 0 genome.wustl.edu 37 3 195512212 195512212 + Missense_Mutation SNP G G T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 3 195512212 195512212 G T SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.6239 p.P2080H 0.337 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 10 0 0 3 4 57.1429 TGFBR2 0 genome.wustl.edu 37 3 30686363 30686363 + Silent SNP C C T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 3 30686363 30686363 C T SNP TGFBR2 ENST00000359013 human ensembl 74_37 +1 known silent c.294 p.I98 1.000 pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,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,prints_TGFB_receptor,pfscan_Prot_kinase_dom - no_errors TGFBR2 HGNC ENSG00000163513 51 0 0 21 5 19.2308 USP4 0 genome.wustl.edu 37 3 49336032 49336032 + Missense_Mutation SNP C C T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 3 49336032 49336032 C T SNP USP4 ENST00000265560 human ensembl 74_37 -1 known missense c.1549 p.D517N 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19/C67 - no_errors USP4 HGNC ENSG00000114316 284 0 0 190 29 13.242 LMCD1 0 genome.wustl.edu 37 3 8590452 8590452 + Missense_Mutation SNP G G A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 3 8590452 8590452 G A SNP LMCD1 ENST00000157600 human ensembl 74_37 +1 known missense c.586 p.V196M 0.996 pfam_PET_domain pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LMCD1 HGNC ENSG00000071282 100 0 0 47 13 21.6667 FAT4 0 genome.wustl.edu 37 4 126398337 126398337 + Silent SNP T T A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 4 126398337 126398337 T A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known silent c.12321 p.V4107 0.983 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 127 0 0 43 6 12.2449 WDR19 0 genome.wustl.edu 37 4 39271605 39271605 + Missense_Mutation SNP G G T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 4 39271605 39271605 G T SNP WDR19 ENST00000399820 human ensembl 74_37 +1 known missense c.3368 p.R1123L 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR19 HGNC ENSG00000157796 64 0 0 35 3 7.89474 MUC7 0 genome.wustl.edu 37 4 71347208 71347208 + Silent SNP A A G TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 4 71347208 71347208 A G SNP MUC7 ENST00000304887 human ensembl 74_37 +1 known silent c.747 p.L249 0.240 NULL NULL - no_errors MUC7 HGNC ENSG00000171195 255 0 0 215 13 5.70175 SDAD1 0 genome.wustl.edu 37 4 76882453 76882453 + Missense_Mutation SNP G G A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 4 76882453 76882453 G A SNP SDAD1 ENST00000356260 human ensembl 74_37 -1 known missense c.1190 p.A397V 1.000 superfamily_ARM-type_fold pfam_SDA1_dom,pfam_Uncharacterised_NUC130/133_N,superfamily_ARM-type_fold - no_errors SDAD1 HGNC ENSG00000198301 75 0 0 30 3 9.09091 KLHL3 0 genome.wustl.edu 37 5 136974737 136974737 + Missense_Mutation SNP G G A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 5 136974737 136974737 G A SNP KLHL3 ENST00000309755 human ensembl 74_37 -1 known missense c.1124 p.T375M 0.986 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,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 KLHL3 HGNC ENSG00000146021 38 0 0 35 6 14.6341 PCDHB1 0 genome.wustl.edu 37 5 140431196 140431196 + Silent SNP C C T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 5 140431196 140431196 C T SNP PCDHB1 ENST00000306549 human ensembl 74_37 +1 known silent c.141 p.N47 0.998 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB1 HGNC ENSG00000171815 45 0 0 18 6 25 PCDHGB2 0 genome.wustl.edu 37 5 140739917 140739917 + Missense_Mutation SNP A A C TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 5 140739917 140739917 A C SNP PCDHGB2 ENST00000522605 human ensembl 74_37 +1 known missense c.215 p.K72T 0.020 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB2 HGNC ENSG00000253910 156 0 0 75 13 14.7727 PCDHGB2 0 genome.wustl.edu 37 5 140741308 140741308 + Missense_Mutation SNP G G A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 5 140741308 140741308 G A SNP PCDHGB2 ENST00000522605 human ensembl 74_37 +1 known missense c.1606 p.D536N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB2 HGNC ENSG00000253910 29 0 0 39 3 7.14286 CYFIP2 0 genome.wustl.edu 37 5 156734811 156734811 + Missense_Mutation SNP A A T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 5 156734811 156734811 A T SNP CYFIP2 ENST00000318218 human ensembl 74_37 +1 known missense c.838 p.N280Y 1.000 pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP2 HGNC ENSG00000055163 19 0 0 11 3 21.4286 EBF1 0 genome.wustl.edu 37 5 158267086 158267086 + Missense_Mutation SNP T T G TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 5 158267086 158267086 T G SNP EBF1 ENST00000313708 human ensembl 74_37 -1 known missense c.587 p.Q196P 1.000 NULL pfam_IPT,superfamily_Ig_E-set,superfamily_bHLH_dom,smart_IPT - no_errors EBF1 HGNC ENSG00000164330 52 0 0 38 5 11.6279 CDH9 0 genome.wustl.edu 37 5 26915959 26915959 + Missense_Mutation SNP A A T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 5 26915959 26915959 A T SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known missense c.302 p.F101Y 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 139 0 0 36 5 12.1951 GRIK2 0 genome.wustl.edu 37 6 102483398 102483398 + Silent SNP C C T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 6 102483398 102483398 C T SNP GRIK2 ENST00000421544 human ensembl 74_37 +1 known silent c.2268 p.G756 0.949 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK2 HGNC ENSG00000164418 235 0 0 123 20 13.986 GRM1 0 genome.wustl.edu 37 6 146755497 146755497 + Silent SNP G G A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 6 146755497 146755497 G A SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known silent c.3150 p.A1050 0.477 NULL pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 48 0 0 37 3 7.5 SOD2 0 genome.wustl.edu 37 6 160109172 160109172 + Missense_Mutation SNP C C T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 6 160109172 160109172 C T SNP SOD2 ENST00000367055 human ensembl 74_37 -1 known missense c.329 p.G110D 1.000 superfamily_Mn/Fe_SOD_C,pirsf_Mn/Fe_SOD pfam_Mn/Fe_SOD_C,pfam_Mn/Fe_SOD_N,superfamily_Mn/Fe_SOD_C,superfamily_Mn/Fe_SOD_N,pirsf_Mn/Fe_SOD,prints_Mn/Fe_SOD - no_errors SOD2 HGNC ENSG00000112096 149 0 0 42 31 42.4658 PACRG 0 genome.wustl.edu 37 6 163735873 163735873 + Missense_Mutation SNP G G A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 6 163735873 163735873 G A SNP PACRG ENST00000337019 human ensembl 74_37 +1 known missense c.745 p.G249S 1.000 pfam_Parkin_co-regulated_protein pfam_Parkin_co-regulated_protein,superfamily_ARM-type_fold - no_errors PACRG HGNC ENSG00000112530 49 0 0 17 17 50 DNAH8 0 genome.wustl.edu 37 6 38890879 38890879 + Missense_Mutation SNP G G A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 6 38890879 38890879 G A SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.10057 p.A3353T 1.000 NULL 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 DNAH8 HGNC ENSG00000124721 47 0 0 18 11 37.931 DAAM2 0 genome.wustl.edu 37 6 39841029 39841029 + Missense_Mutation SNP A A C TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 6 39841029 39841029 A C SNP DAAM2 ENST00000274867 human ensembl 74_37 +1 known missense c.1060 p.K354Q 1.000 pfam_FH3_dom,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DAAM2 HGNC ENSG00000146122 19 0 0 14 6 30 DST 0 genome.wustl.edu 37 6 56505390 56505390 + Missense_Mutation SNP G G A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 6 56505390 56505390 G A SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.1942 p.R648C 1.000 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 87 0 0 38 7 15.5556 DSP 0 genome.wustl.edu 37 6 7581033 7581033 + Missense_Mutation SNP G G A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 6 7581033 7581033 G A SNP DSP ENST00000379802 human ensembl 74_37 +1 known missense c.4610 p.R1537H 0.998 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 142 1 0.699301 59 34 36.5591 FUT9 0 genome.wustl.edu 37 6 96651497 96651497 + Missense_Mutation SNP C C G TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 6 96651497 96651497 C G SNP FUT9 ENST00000302103 human ensembl 74_37 +1 known missense c.466 p.L156V 1.000 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT9 HGNC ENSG00000172461 61 0 0 27 10 27.027 REPIN1 0 genome.wustl.edu 37 7 150068855 150068855 + Silent SNP G G A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 7 150068855 150068855 G A SNP REPIN1 ENST00000489432 human ensembl 74_37 +1 known silent c.696 p.R232 0.994 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors REPIN1 HGNC ENSG00000214022 24 0 0 25 4 13.7931 KMT2C 0 genome.wustl.edu 37 7 151875049 151875049 + Missense_Mutation SNP G G A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 7 151875049 151875049 G A SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.7489 p.R2497C 0.997 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 83 0 0 35 11 23.913 STK31 0 genome.wustl.edu 37 7 23749937 23749937 + Silent SNP C C T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 7 23749937 23749937 C T SNP STK31 ENST00000355870 human ensembl 74_37 +1 known silent c.33 p.S11 0.001 NULL pfam_Tudor,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tudor,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Tudor,pfscan_Prot_kinase_dom - no_errors STK31 HGNC ENSG00000196335 56 0 0 42 3 6.66667 ZNF680 0 genome.wustl.edu 37 7 63982107 63982107 + Missense_Mutation SNP T T C TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 7 63982107 63982107 T C SNP ZNF680 ENST00000309683 human ensembl 74_37 -1 known missense c.1025 p.K342R 0.991 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 ZNF680 HGNC ENSG00000173041 57 0 0 34 3 8.10811 ZNF804B 0 genome.wustl.edu 37 7 88964364 88964364 + Missense_Mutation SNP G G A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 7 88964364 88964364 G A SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.2068 p.G690R 0.064 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 46 0 0 19 4 17.3913 ZKSCAN1 0 genome.wustl.edu 37 7 99621904 99621904 + Missense_Mutation SNP G G A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 7 99621904 99621904 G A SNP ZKSCAN1 ENST00000324306 human ensembl 74_37 +1 known missense c.554 p.R185Q 1.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN1 HGNC ENSG00000106261 47 0 0 23 2 8 KCNQ3 0 genome.wustl.edu 37 8 133150173 133150173 + Silent SNP C C T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 8 133150173 133150173 C T SNP KCNQ3 ENST00000388996 human ensembl 74_37 -1 known silent c.1659 p.G553 0.157 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 110 0 0 69 11 13.75 DLC1 0 genome.wustl.edu 37 8 13357579 13357579 + Missense_Mutation SNP A A G TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 8 13357579 13357579 A G SNP DLC1 ENST00000276297 human ensembl 74_37 -1 known missense c.2 p.M1T 1.000 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 90 0 0 44 3 6.38298 KCNU1 0 genome.wustl.edu 37 8 36698093 36698093 + Missense_Mutation SNP G G A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 8 36698093 36698093 G A SNP KCNU1 ENST00000399881 human ensembl 74_37 +1 known missense c.1631 p.R544Q 0.936 pfam_K_chnl_Ca-activ_BK_asu,prints_K_chnl_Ca-activ_BK_asu pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu - no_errors KCNU1 HGNC ENSG00000215262 22 0 0 7 3 30 CSMD1 0 genome.wustl.edu 37 8 4851918 4851918 + Missense_Mutation SNP G G C TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 8 4851918 4851918 G C SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.21 p.F7L 0.115 NULL 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 CSMD1 HGNC ENSG00000183117 42 0 0 43 3 6.52174 SNTG1 0 genome.wustl.edu 37 8 51617262 51617262 + Missense_Mutation SNP T T G TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 8 51617262 51617262 T G SNP SNTG1 ENST00000518864 human ensembl 74_37 +1 known missense c.1141 p.W381G 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTG1 HGNC ENSG00000147481 54 0 0 43 6 12.2449 OSR2 0 genome.wustl.edu 37 8 99961494 99961494 + Missense_Mutation SNP T T A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 8 99961494 99961494 T A SNP OSR2 ENST00000457907 human ensembl 74_37 +1 known missense c.677 p.V226D 0.997 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors OSR2 HGNC ENSG00000164920 228 0 0 132 29 18.0124 MUSK 0 genome.wustl.edu 37 9 113538210 113538210 + Missense_Mutation SNP G G A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 9 113538210 113538210 G A SNP MUSK ENST00000374448 human ensembl 74_37 +1 known missense c.1327 p.D443N 1.000 pfam_Frizzled_dom,pfscan_Frizzled_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MUSK HGNC ENSG00000030304 184 0 0 134 16 10.6667 RNF183 0 genome.wustl.edu 37 9 116060314 116060314 + Missense_Mutation SNP G G A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 9 116060314 116060314 G A SNP RNF183 ENST00000297894 human ensembl 74_37 -1 known missense c.151 p.R51W 0.886 smart_Znf_RING,pfscan_Znf_RING smart_Znf_RING,pfscan_Znf_RING - no_errors RNF183 HGNC ENSG00000165188 85 0 0 35 10 22.2222 TTC16 0 genome.wustl.edu 37 9 130479638 130479638 + Missense_Mutation SNP G G C TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 9 130479638 130479638 G C SNP TTC16 ENST00000373289 human ensembl 74_37 +1 known missense c.217 p.E73Q 0.001 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC16 HGNC ENSG00000167094 68 0 0 43 11 20.3704 CNTLN 0 genome.wustl.edu 37 9 17135365 17135365 + Missense_Mutation SNP G G A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 9 17135365 17135365 G A SNP CNTLN ENST00000380647 human ensembl 74_37 +1 known missense c.302 p.R101Q 1.000 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 9 0 0 4 4 50 CNTFR 0 genome.wustl.edu 37 9 34552722 34552722 + Missense_Mutation SNP G G A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 9 34552722 34552722 G A SNP CNTFR ENST00000351266 human ensembl 74_37 -1 known missense c.899 p.T300M 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTFR HGNC ENSG00000122756 63 0 0 40 10 20 SPATA31E1 0 genome.wustl.edu 37 9 90501251 90501251 + Missense_Mutation SNP G G A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 9 90501251 90501251 G A SNP SPATA31E1 ENST00000325643 human ensembl 74_37 +1 known missense c.1849 p.G617R 0.001 NULL NULL - no_errors SPATA31E1 HGNC ENSG00000177992 92 0 0 57 9 13.6364 C9orf3 0 genome.wustl.edu 37 9 97563249 97563249 + Silent SNP C C T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 9 97563249 97563249 C T SNP C9orf3 ENST00000375315 human ensembl 74_37 +1 known silent c.1329 p.I443 0.523 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold - no_errors C9orf3 HGNC ENSG00000148120 191 0 0 114 20 14.9254 PNMA5 0 genome.wustl.edu 37 X 152159384 152159384 + Silent SNP C C T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 X 152159384 152159384 C T SNP PNMA5 ENST00000361887 human ensembl 74_37 -1 known silent c.759 p.P253 0.000 NULL NULL - no_errors PNMA5 HGNC ENSG00000198883 56 0 0 24 3 11.1111 TREX2 0 genome.wustl.edu 37 X 152713230 152713230 + Missense_Mutation SNP C C T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 X 152713230 152713230 C T SNP TREX2 ENST00000334497 human ensembl 74_37 -1 known missense c.71 p.R24H 0.001 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors TREX2 HGNC ENSG00000183479 180 0 0 131 29 18.125 DMD 0 genome.wustl.edu 37 X 32360399 32360399 + Nonsense_Mutation SNP C C A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 X 32360399 32360399 C A SNP DMD ENST00000357033 human ensembl 74_37 -1 known nonsense c.5740 p.E1914* 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 23 0 0 12 11 47.8261 BMP15 0 genome.wustl.edu 37 X 50659159 50659159 + Missense_Mutation SNP G G A TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 X 50659159 50659159 G A SNP BMP15 ENST00000252677 human ensembl 74_37 +1 known missense c.731 p.R244Q 0.001 NULL pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP15 HGNC ENSG00000130385 44 0 0 16 3 15.7895 RPS6KA6 0 genome.wustl.edu 37 X 83411138 83411138 + Missense_Mutation SNP G G T TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 X 83411138 83411138 G T SNP RPS6KA6 ENST00000262752 human ensembl 74_37 -1 known missense c.203 p.A68E 1.000 superfamily_Kinase-like_dom,pirsf_Ribosomal_S6_kinase_II pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom - no_errors RPS6KA6 HGNC ENSG00000072133 29 0 0 12 3 20 C11orf54 0 genome.wustl.edu 37 11 93486914 93486914 + Frame_Shift_Del DEL A A - TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 11 93486914 93486914 A - DEL C11orf54 ENST00000331239 human ensembl 74_37 +1 known frame_shift_del c.221 p.V77fs 0.016 pfam_DUF1907 pfam_DUF1907 - no_errors C11orf54 HGNC ENSG00000182919 37 0 0 23 2 8 APOBR 0 genome.wustl.edu 37 16 28506895 28506897 + In_Frame_Del DEL AGG AGG - TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 16 28506895 28506897 AGG - DEL APOBR ENST00000564831 human ensembl 74_37 +1 known in_frame_del c.533_535 p.E182in_frame_del 0.029:0.040:0.644 NULL NULL - no_errors APOBR HGNC ENSG00000184730 9 0 0 10 2 16.6667 TMEM100 0 genome.wustl.edu 37 17 53798136 53798136 + Frame_Shift_Del DEL A A - TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 17 53798136 53798136 A - DEL TMEM100 ENST00000424486 human ensembl 74_37 -1 known frame_shift_del c.296 p.L99fs 0.994 NULL NULL - no_errors TMEM100 HGNC ENSG00000166292 91 0 0 40 16 28.5714 TRIOBP 0 genome.wustl.edu 37 22 38121801 38121801 + Frame_Shift_Del DEL A A - TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 22 38121801 38121801 A - DEL TRIOBP ENST00000406386 human ensembl 74_37 +1 known frame_shift_del c.3238 p.T1080fs 0.597 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 164 0 0 142 15 9.55414 DMTN 0 genome.wustl.edu 37 8 21938951 21938953 + In_Frame_Del DEL AAG AAG - TCGA-FP-7916-01A-11D-2201-08 TCGA-FP-7916-10A-01D-2201-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08fbbee6-0780-4d19-bbab-346dda361e08 da15d7f0-0838-4ba6-9348-badfdf50a5f8 8 21938951 21938953 AAG - DEL DMTN ENST00000265800 human ensembl 74_37 +1 known in_frame_del c.1195_1197 p.K401in_frame_del 1.000:1.000:1.000 pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin_headpiece,pfscan_Villin_headpiece pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin_headpiece,pfscan_Villin_headpiece - no_errors DMTN HGNC ENSG00000158856 103 0 0 69 8 10.3896