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 ABCA8 0 genome.wustl.edu 37 17 66873731 66873731 + Silent SNP C C G TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 17 66873731 66873731 C G SNP ABCA8 ENST00000430352 human ensembl 74_37 -1 known silent c.4128 p.V1376 0.997 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA8 HGNC ENSG00000141338 tier1 - - 102 0 0.00 49 44 47.31 ABCC11 0 genome.wustl.edu 37 16 48261862 48261862 + Missense_Mutation SNP G G T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 16 48261862 48261862 G T SNP ABCC11 ENST00000356608 human ensembl 74_37 -1 known missense c.250 p.Q84K 0.000 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC11 HGNC ENSG00000121270 39 0 0.00 30 3 9.09 ABCC12 0 genome.wustl.edu 37 16 48180286 48180286 + Missense_Mutation SNP C C A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 16 48180286 48180286 C A SNP ABCC12 ENST00000311303 human ensembl 74_37 -1 known missense c.50 p.R17L 0.000 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC12 HGNC ENSG00000140798 tier1 - - 52 0 0.00 33 26 44.07 ACVR1B 0 genome.wustl.edu 37 12 52380769 52380769 + Missense_Mutation SNP A A T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 12 52380769 52380769 A T SNP ACVR1B ENST00000415850 human ensembl 74_37 +1 known missense c.1304 p.D435V 0.000 smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ACVR1B HGNC ENSG00000135503 tier1 - - 66 0 0.00 31 41 56.94 ADCY7 0 genome.wustl.edu 37 16 50334758 50334758 + Silent SNP C C T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 16 50334758 50334758 C T SNP ADCY7 ENST00000254235 human ensembl 74_37 +1 known silent c.1209 p.N403 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY7 HGNC ENSG00000121281 tier1 - - 66 0 0.00 39 4 9.30 AFF3 0 genome.wustl.edu 37 2 100210147 100210147 + Missense_Mutation SNP A A G TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 2 100210147 100210147 A G SNP AFF3 ENST00000356421 human ensembl 74_37 -1 known missense c.2051 p.V684A 0.993 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 tier1 - - 36 0 0.00 24 11 31.43 ALG6 0 genome.wustl.edu 37 1 63894627 63894629 + In_Frame_Del DEL CTC CTC - TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 1 63894627 63894629 CTC - DEL ALG6 ENST00000371108 human ensembl 74_37 +1 known in_frame_del c.1156_1158 p.L387in_frame_del 0.938:0.946:0.826 pfam_Glyco_trans_ALG6/ALG8 pfam_Glyco_trans_ALG6/ALG8 - no_errors ALG6 HGNC ENSG00000088035 tier1 8 0 0.00 16 8 33.33 AMOT 0 genome.wustl.edu 37 X 112065833 112065833 + Missense_Mutation SNP C C G TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 X 112065833 112065833 C G SNP AMOT ENST00000371959 human ensembl 74_37 -1 known missense c.522 p.L174F 0.999 NULL pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin - no_errors AMOT HGNC ENSG00000126016 17 0 0.00 19 4 17.39 ANKRD13C 0 genome.wustl.edu 37 1 70819708 70819708 + Silent SNP G G C TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 1 70819708 70819708 G C SNP ANKRD13C ENST00000370944 human ensembl 74_37 -1 known silent c.384 p.L128 0.986 superfamily_Ankyrin_rpt-contain_dom pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD13C HGNC ENSG00000118454 tier1 - - 53 0 0.00 48 11 18.64 ANKRD17 0 genome.wustl.edu 37 4 74027042 74027042 + Missense_Mutation SNP C C T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 4 74027042 74027042 C T SNP ANKRD17 ENST00000358602 human ensembl 74_37 -1 known missense c.571 p.D191N 1.000 NULL pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKRD17 HGNC ENSG00000132466 tier1 - - 39 0 0.00 48 4 7.69 ANKRD30B 0 genome.wustl.edu 37 18 14763720 14763720 + Missense_Mutation SNP C C T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 18 14763720 14763720 C T SNP ANKRD30B ENST00000358984 human ensembl 74_37 +1 known missense c.856 p.P286S 0.006 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30B HGNC ENSG00000180777 tier1 - - 73 0 0.00 37 20 33.90 ANO2 0 genome.wustl.edu 37 12 5842179 5842179 + RNA SNP C C T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 12 5842179 5842179 C T SNP ANO2 ENST00000542326 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors ANO2 HGNC ENSG00000047617 tier1 - - 21 0 0.00 293 80 21.33 ANO2 0 genome.wustl.edu 37 12 5842200 5842200 + RNA SNP C C T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 12 5842200 5842200 C T SNP ANO2 ENST00000542326 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors ANO2 HGNC ENSG00000047617 tier1 - - 18 0 0.00 222 55 19.86 APEH 0 genome.wustl.edu 37 3 49714115 49714115 + Missense_Mutation SNP G G T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 3 49714115 49714115 G T SNP APEH ENST00000296456 human ensembl 74_37 +1 known missense c.818 p.R273L 1.000 NULL pfam_Peptidase_S9,pfam_AB_hydrolase_1,pfam_Dienelactn_hydro - no_errors APEH HGNC ENSG00000164062 tier1 - - 183 0 0.00 41 51 55.43 APH1A 0 genome.wustl.edu 37 1 150238561 150238561 + Frame_Shift_Del DEL T T - TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 1 150238561 150238561 T - DEL APH1A ENST00000369109 human ensembl 74_37 -1 known frame_shift_del c.767 p.Y256fs 1.000 NULL pfam_Aph-1 - no_errors APH1A HGNC ENSG00000117362 tier1 29 0 0.00 30 16 34.78 ARRB1 0 genome.wustl.edu 37 11 74985232 74985232 + Missense_Mutation SNP G G A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 11 74985232 74985232 G A SNP ARRB1 ENST00000393505 human ensembl 74_37 -1 known missense c.800 p.T267M 0.959 pfam_Arrestin_C-like,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin - no_errors ARRB1 HGNC ENSG00000137486 tier1 rs200557530 - 79 0 0.00 15 25 62.50 ASTL 0 genome.wustl.edu 37 2 96799172 96799172 + Frame_Shift_Del DEL G G - TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 2 96799172 96799172 G - DEL ASTL ENST00000342380 human ensembl 74_37 -1 known frame_shift_del c.447 p.M150fs 0.998 pfam_Peptidase_M12A,smart_Peptidase_Metallo pfam_Peptidase_M12A,smart_Peptidase_Metallo,prints_Peptidase_M12A - no_errors ASTL HGNC ENSG00000188886 tier1 48 0 0.00 32 2 5.88 ATP2B4 0 genome.wustl.edu 37 1 203669435 203669435 + Missense_Mutation SNP G G A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 1 203669435 203669435 G A SNP ATP2B4 ENST00000357681 human ensembl 74_37 +1 known missense c.751 p.D251N 0.999 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B4 HGNC ENSG00000058668 tier1 - - 53 0 0.00 55 4 6.78 ATP6V0B 0 genome.wustl.edu 37 1 44442966 44442966 + Missense_Mutation SNP C C G TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 1 44442966 44442966 C G SNP ATP6V0B ENST00000532642 human ensembl 74_37 +1 putative missense c.669 p.C223W 0.000 NULL pfam_ATPase_proteolipid_c_like_dom,superfamily_ATPase_proteolipid_c_like_dom,prints_ATPase_proteolipid_csu - no_errors ATP6V0B HGNC ENSG00000117410 tier1 - - 34 0 0.00 12 10 45.45 ATR 0 genome.wustl.edu 37 3 142168307 142168307 + Silent SNP T T A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 3 142168307 142168307 T A SNP ATR ENST00000350721 human ensembl 74_37 -1 known silent c.7899 p.L2633 0.289 pfam_FATC,smart_PI3/4_kinase_cat_dom,pfscan_FATC,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 tier1 - - 67 0 0.00 52 9 14.75 ATRNL1 0 genome.wustl.edu 37 10 117607407 117607407 + Missense_Mutation SNP C C T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 10 117607407 117607407 C T SNP ATRNL1 ENST00000355044 human ensembl 74_37 +1 known missense c.3923 p.A1308V 1.000 NULL pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC ENSG00000107518 tier1 - - 52 0 0.00 50 4 7.41 BAI2 0 genome.wustl.edu 37 1 32205214 32205214 + Silent SNP G G C TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 1 32205214 32205214 G C SNP BAI2 ENST00000373658 human ensembl 74_37 -1 known silent c.2190 p.P730 0.018 pfam_DUF3497 pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI2 HGNC ENSG00000121753 tier1 - - 39 0 0.00 23 16 41.03 BCMO1 0 genome.wustl.edu 37 16 81324181 81324181 + Nonstop_Mutation SNP G G C TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 16 81324181 81324181 G C SNP BCMO1 ENST00000258168 human ensembl 74_37 +1 known nonstop c.1643 p.*548S 0.054 NULL pfam_Carotenoid_Oase - no_errors BCMO1 HGNC ENSG00000135697 tier1 - - 39 0 0.00 43 9 17.31 BLM 0 genome.wustl.edu 37 15 91303325 91303326 + Frame_Shift_Ins INS - - T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 15 91303325 91303326 - T INS BLM ENST00000559724 human ensembl 74_37 +1 known frame_shift_ins c.1202_1203 p.F405fs 0.000:0.021 NULL NULL - no_errors BLM HGNC ENSG00000197299 tier1 27 0 0.00 29 5 14.71 BRPF1 0 genome.wustl.edu 37 3 9786770 9786770 + Frame_Shift_Del DEL T T - TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 3 9786770 9786770 T - DEL BRPF1 ENST00000383829 human ensembl 74_37 +1 known frame_shift_del c.2999 p.R1002fs 1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF1 HGNC ENSG00000156983 tier1 56 0 0.00 12 2 14.29 BZW2 0 genome.wustl.edu 37 7 16685805 16685805 + RNA SNP C C T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 7 16685805 16685805 C T SNP BZW2 ENST00000432311 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors BZW2 HGNC ENSG00000136261 tier1 - - 124 0 0.00 40 49 55.06 C18orf8 0 genome.wustl.edu 37 18 21111652 21111652 + Missense_Mutation SNP G G A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 18 21111652 21111652 G A SNP C18orf8 ENST00000269221 human ensembl 74_37 +1 known missense c.1958 p.R653K 1.000 NULL pfam_Mic1,superfamily_WD40_repeat_dom - no_errors C18orf8 HGNC ENSG00000141452 tier1 - - 28 0 0.00 23 7 23.33 C3orf20 0 genome.wustl.edu 37 3 14803014 14803014 + Missense_Mutation SNP G G A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 3 14803014 14803014 G A SNP C3orf20 ENST00000253697 human ensembl 74_37 +1 known missense c.2387 p.R796H 0.535 NULL NULL - no_errors C3orf20 HGNC ENSG00000131379 61 0 0.00 30 2 6.25 CACNA1E 0 genome.wustl.edu 37 1 181767730 181767730 + Silent SNP C C T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 1 181767730 181767730 C T SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known silent c.6702 p.A2234 0.991 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 tier1 - - 55 0 0.00 45 4 8.16 CACNA2D1 0 genome.wustl.edu 37 7 81714152 81714152 + Silent SNP G G T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 7 81714152 81714152 G T SNP CACNA2D1 ENST00000356253 human ensembl 74_37 -1 known silent c.591 p.R197 0.949 pfam_VWA_N pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D1 HGNC ENSG00000153956 tier1 - - 34 0 0.00 55 4 6.78 CACNA2D1 0 genome.wustl.edu 37 7 82072745 82072745 + Missense_Mutation SNP G G T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 7 82072745 82072745 G T SNP CACNA2D1 ENST00000356253 human ensembl 74_37 -1 known missense c.31 p.L11M 1.000 NULL pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D1 HGNC ENSG00000153956 38 0 0.00 37 2 5.13 CAPN2 0 genome.wustl.edu 37 1 223962880 223962880 + RNA DEL A A - TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 1 223962880 223962880 A - DEL CAPN2 ENST00000463997 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors CAPN2 HGNC ENSG00000162909 tier1 35 0 0.00 30 3 9.09 CASP5 0 genome.wustl.edu 37 11 104878041 104878041 + Frame_Shift_Del DEL T T - TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 11 104878041 104878041 T - DEL CASP5 ENST00000393141 human ensembl 74_37 -1 known frame_shift_del c.241 p.T81fs 0.000 pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pirsf_Caspase_IL-1_beta,pfscan_CARD pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP5 HGNC ENSG00000137757 tier1 20 0 0.00 23 4 14.81 CCDC41 0 genome.wustl.edu 37 12 94772658 94772658 + Missense_Mutation SNP T T A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 12 94772658 94772658 T A SNP CCDC41 ENST00000339839 human ensembl 74_37 -1 known missense c.710 p.E237V 1.000 NULL NULL - no_errors CCDC41 HGNC ENSG00000173588 tier1 - - 68 0 0.00 49 45 47.87 CCNF 0 genome.wustl.edu 37 16 2487242 2487242 + Missense_Mutation SNP C C G TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 16 2487242 2487242 C G SNP CCNF ENST00000397066 human ensembl 74_37 +1 known missense c.459 p.I153M 1.000 NULL pfam_Cyclin_N,pfam_Cyclin_C-dom,pfam_F-box_dom,superfamily_Cyclin-like,superfamily_F-box_dom,smart_F-box_dom,smart_Cyclin-like,pfscan_F-box_dom - no_errors CCNF HGNC ENSG00000162063 43 0 0.00 31 3 8.82 CCPG1 0 genome.wustl.edu 37 15 55681620 55681620 + Missense_Mutation SNP C C A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 15 55681620 55681620 C A SNP CCPG1 ENST00000310958 human ensembl 74_37 -1 known missense c.3 p.M1I 1.000 NULL NULL - no_errors CCPG1 HGNC ENSG00000260916 26 0 0.00 30 2 6.25 CCR10 0 genome.wustl.edu 37 17 40832242 40832242 + Missense_Mutation SNP C C A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 17 40832242 40832242 C A SNP CCR10 ENST00000332438 human ensembl 74_37 -1 known missense c.418 p.V140L 0.985 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR10,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt - no_errors CCR10 HGNC ENSG00000184451 tier1 - - 14 0 0.00 6 7 53.85 CD163 0 genome.wustl.edu 37 12 7649729 7649729 + Missense_Mutation SNP T T C TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 12 7649729 7649729 T C SNP CD163 ENST00000359156 human ensembl 74_37 -1 known missense c.779 p.K260R 0.049 superfamily_Srcr_rcpt-rel pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR - no_errors CD163 HGNC ENSG00000177575 tier1 - - 69 0 0.00 137 36 20.81 CD4 0 genome.wustl.edu 37 12 6924124 6924124 + Silent SNP G G A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 12 6924124 6924124 G A SNP CD4 ENST00000011653 human ensembl 74_37 +1 known silent c.573 p.K191 0.000 pfam_Ig_C2-set,smart_Ig_sub,smart_Ig_sub2 pfam_CD4-extracel,pfam_Ig_C2-set,pfam_Tcell_CD4_Cterm,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,pfam_NK_rcpt_2B4_Ig_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Ag_CD4 - no_errors CD4 HGNC ENSG00000010610 tier1 - - 36 0 0.00 52 7 11.86 CDH10 0 genome.wustl.edu 37 5 24488069 24488069 + Silent SNP A A G TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 5 24488069 24488069 A G SNP CDH10 ENST00000264463 human ensembl 74_37 -1 known silent c.2070 p.I690 0.998 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH10 HGNC ENSG00000040731 tier1 - - 30 0 0.00 12 16 57.14 CEACAM18 0 genome.wustl.edu 37 19 51986564 51986564 + Missense_Mutation SNP C C A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 19 51986564 51986564 C A SNP CEACAM18 ENST00000451626 human ensembl 74_37 +1 known missense c.1150 p.P384T 0.002 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM18 HGNC ENSG00000213822 tier1 - - 61 0 0.00 23 20 45.45 CEPT1 0 genome.wustl.edu 37 1 111724581 111724582 + RNA INS - - T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 1 111724581 111724582 - T INS CEPT1 ENST00000467362 human ensembl 74_37 +1 known rna NULL NULL 0.007:0.000 - - - no_errors CEPT1 HGNC ENSG00000134255 tier1 8 0 0.00 10 4 28.57 CHD2 0 genome.wustl.edu 37 15 93515583 93515583 + Missense_Mutation SNP C C G TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 15 93515583 93515583 C G SNP CHD2 ENST00000557381 human ensembl 74_37 +1 putative missense c.2441 p.S814C 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD2 HGNC ENSG00000173575 tier1 - - 28 0 0.00 53 4 7.02 CIC 0 genome.wustl.edu 37 19 42793154 42793154 + Missense_Mutation SNP C C T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 19 42793154 42793154 C T SNP CIC ENST00000575354 human ensembl 74_37 +1 known missense c.1046 p.S349L 0.998 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 tier1 - - 35 0 0.00 17 4 19.05 CIC 0 genome.wustl.edu 37 19 42790978 42790978 + Silent SNP C C G TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 19 42790978 42790978 C G SNP CIC ENST00000575354 human ensembl 74_37 +1 known silent c.123 p.V41 0.995 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 52 0 0.00 44 4 8.33 CITED2 0 genome.wustl.edu 37 6 139694904 139694904 + Missense_Mutation SNP C C T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 6 139694904 139694904 C T SNP CITED2 ENST00000367651 human ensembl 74_37 -1 known missense c.178 p.A60T 1.000 pfam_CITED pfam_CITED - no_errors CITED2 HGNC ENSG00000164442 tier1 - - 64 0 0.00 32 4 11.11 CLCN3 0 genome.wustl.edu 37 4 170608906 170608906 + Missense_Mutation SNP C C T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 4 170608906 170608906 C T SNP CLCN3 ENST00000347613 human ensembl 74_37 +1 known missense c.416 p.S139L 1.000 superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-3 - no_errors CLCN3 HGNC ENSG00000109572 tier1 rs200318516 - 115 0 0.00 130 10 7.09 CMTM3 0 genome.wustl.edu 37 16 66642288 66642289 + Frame_Shift_Ins INS - - CC TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 16 66642288 66642289 - CC INS CMTM3 ENST00000361909 human ensembl 74_37 +1 known frame_shift_ins c.224_225 p.L76fs 1.000:1.000 pfam_Marvel pfam_Marvel - no_errors CMTM3 HGNC ENSG00000140931 tier1 36 0 0.00 14 5 26.32 CNTD2 0 genome.wustl.edu 37 19 40732494 40732494 + Missense_Mutation SNP T T A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 19 40732494 40732494 T A SNP CNTD2 ENST00000430325 human ensembl 74_37 -1 known missense c.55 p.R19W 0.000 pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CNTD2 HGNC ENSG00000105219 tier1 - - 11 0 0.00 3 4 57.14 CPEB4 0 genome.wustl.edu 37 5 173383260 173383260 + RNA SNP A A G TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 5 173383260 173383260 A G SNP CPEB4 ENST00000519467 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors CPEB4 HGNC ENSG00000113742 tier1 - - 52 0 0.00 27 24 47.06 CPNE5 0 genome.wustl.edu 37 6 36730753 36730753 + Nonsense_Mutation SNP C C A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 6 36730753 36730753 C A SNP CPNE5 ENST00000244751 human ensembl 74_37 -1 known nonsense c.796 p.E266* 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE5 HGNC ENSG00000124772 tier1 - - 43 0 0.00 11 14 56.00 CPZ 0 genome.wustl.edu 37 4 8620227 8620227 + Silent SNP C C G TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 4 8620227 8620227 C G SNP CPZ ENST00000360986 human ensembl 74_37 +1 known silent c.1575 p.V525 0.991 superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Frizzled_dom,superfamily_Frizzled_dom,superfamily_CarboxyPept-like_regulatory,smart_Frizzled_dom,smart_Peptidase_M14,prints_Peptidase_M14,pfscan_Frizzled_dom - no_errors CPZ HGNC ENSG00000109625 tier1 - - 35 0 0.00 14 6 30.00 CWH43 0 genome.wustl.edu 37 4 49034650 49034650 + Nonsense_Mutation SNP G G T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 4 49034650 49034650 G T SNP CWH43 ENST00000226432 human ensembl 74_37 +1 known nonsense c.1576 p.E526* 1.000 superfamily_Endo/exonuclease/phosphatase superfamily_Endo/exonuclease/phosphatase - no_errors CWH43 HGNC ENSG00000109182 53 0 0.00 52 3 5.45 CXCR2 0 genome.wustl.edu 37 2 218999543 218999543 + Nonsense_Mutation SNP G G T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 2 218999543 218999543 G T SNP CXCR2 ENST00000318507 human ensembl 74_37 +1 known nonsense c.19 p.E7* 0.000 prints_Chemokine_CXCR2 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR_1/2,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR2,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CXCR2 HGNC ENSG00000180871 48 0 0.00 42 3 6.67 CYP4F12 0 genome.wustl.edu 37 19 15795913 15795913 + Missense_Mutation SNP C C A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 19 15795913 15795913 C A SNP CYP4F12 ENST00000324632 human ensembl 74_37 +1 known missense c.1021 p.L341M 0.999 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F12 HGNC ENSG00000186204 tier1 - - 53 0 0.00 33 4 10.81 DACH2 0 genome.wustl.edu 37 X 85994844 85994844 + Missense_Mutation SNP C C A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 X 85994844 85994844 C A SNP DACH2 ENST00000373125 human ensembl 74_37 +1 known missense c.1199 p.S400Y 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH2 HGNC ENSG00000126733 tier1 - - 17 0 0.00 5 16 72.73 DACH2 0 genome.wustl.edu 37 X 85994845 85994845 + Silent SNP C C G TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 X 85994845 85994845 C G SNP DACH2 ENST00000373125 human ensembl 74_37 +1 known silent c.1200 p.S400 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH2 HGNC ENSG00000126733 tier1 - - 17 0 0.00 5 16 76.19 DACT2 0 genome.wustl.edu 37 6 168708169 168708169 + Silent SNP C C T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 6 168708169 168708169 C T SNP DACT2 ENST00000366795 human ensembl 74_37 -1 known silent c.2268 p.L756 0.997 NULL NULL - no_errors DACT2 HGNC ENSG00000164488 51 0 0.00 29 3 9.38 DCBLD2 0 genome.wustl.edu 37 3 98518687 98518688 + Splice_Site DEL TG TG - TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 3 98518687 98518688 TG - DEL DCBLD2 ENST00000326857 human ensembl 74_37 -1 known splice_site_del c.1901-3_1901-2 e16-2 1.000:0.993 - - - no_errors DCBLD2 HGNC ENSG00000057019 tier1 17 0 0.00 19 4 17.39 DCDC2 0 genome.wustl.edu 37 6 24178761 24178761 + Missense_Mutation SNP C C T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 6 24178761 24178761 C T SNP DCDC2 ENST00000378454 human ensembl 74_37 -1 known missense c.1123 p.E375K 0.736 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors DCDC2 HGNC ENSG00000146038 tier1 - - 61 0 0.00 44 24 35.29 DENND6A 0 genome.wustl.edu 37 3 57619036 57619036 + Nonsense_Mutation SNP G G A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 3 57619036 57619036 G A SNP DENND6A ENST00000311128 human ensembl 74_37 -1 known nonsense c.1309 p.R437* 1.000 pfam_Afi1_N pfam_Afi1_N,pfam_ABL9/DENND6_dom,pfam_DENN_dom - no_errors DENND6A HGNC ENSG00000174839 tier1 - - 63 0 0.00 24 23 48.94 DLX6 0 genome.wustl.edu 37 7 96635388 96635388 + Silent SNP A A G TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 7 96635388 96635388 A G SNP DLX6 ENST00000518156 human ensembl 74_37 +1 known silent c.99 p.Q33 0.996 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX6 HGNC ENSG00000006377 tier1 rs35692573 - 80 0 0.00 78 5 6.02 DMXL2 0 genome.wustl.edu 37 15 51751879 51751880 + RNA INS - - A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 15 51751879 51751880 - A INS DMXL2 ENST00000558124 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors DMXL2 HGNC ENSG00000104093 tier1 35 0 0.00 9 9 50.00 DNAH10OS 0 genome.wustl.edu 37 12 124418819 124418819 + Missense_Mutation SNP C C A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 12 124418819 124418819 C A SNP DNAH10OS ENST00000514254 human ensembl 74_37 -1 novel missense c.312 p.W104C 0.011 NULL NULL - no_errors DNAH10OS HGNC ENSG00000250091 tier1 - - 54 0 0.00 68 4 5.56 DNAH6 0 genome.wustl.edu 37 2 84912583 84912583 + Silent SNP G G C TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 2 84912583 84912583 G C SNP DNAH6 ENST00000237449 human ensembl 74_37 +1 known silent c.7050 p.L2350 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 tier1 - - 44 0 0.00 35 5 12.50 DNMT1 0 genome.wustl.edu 37 19 10270336 10270336 + Silent SNP G G A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 19 10270336 10270336 G A SNP DNMT1 ENST00000359526 human ensembl 74_37 -1 known silent c.1278 p.F426 1.000 pirsf_DNA_C5-MeTrfase_1_euk,pfam_Cytosine_MeTrfase1_RFD pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC - no_errors DNMT1 HGNC ENSG00000130816 47 0 0.00 41 3 6.82 DOCK10 0 genome.wustl.edu 37 2 225658132 225658133 + Frame_Shift_Ins INS - - CT TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 2 225658132 225658133 - CT INS DOCK10 ENST00000258390 human ensembl 74_37 -1 known frame_shift_ins c.5197_5196 p.Y1732fs 1.000:0.909 superfamily_ARM-type_fold pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 tier1 28 0 0.00 21 6 22.22 DYSF 0 genome.wustl.edu 37 2 71753404 71753404 + Silent SNP C C A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 2 71753404 71753404 C A SNP DYSF ENST00000413539 human ensembl 74_37 +1 known silent c.1201 p.R401 0.816 pfam_FerIin-domain,superfamily_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 tier1 - - 35 0 0.00 25 7 21.88 DYSF 0 genome.wustl.edu 37 2 71892349 71892349 + Silent SNP C C T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 2 71892349 71892349 C T SNP DYSF ENST00000413539 human ensembl 74_37 +1 known silent c.5208 p.F1736 1.000 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 tier1 - - 28 0 0.00 20 14 41.18 EBP 0 genome.wustl.edu 37 X 48385361 48385361 + RNA SNP C C G TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 X 48385361 48385361 C G SNP EBP ENST00000466461 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors EBP HGNC ENSG00000147155 tier1 - - 65 0 0.00 13 38 74.51 ENOSF1 0 genome.wustl.edu 37 18 690729 690730 + Frame_Shift_Ins INS - - T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 18 690729 690730 - T INS ENOSF1 ENST00000581475 human ensembl 74_37 -1 known frame_shift_ins c.440_439 p.T147fs 0.009:0.019 NULL pfam_Mandelate_racemase_N - no_errors ENOSF1 HGNC ENSG00000132199 tier1 8 0 0.00 7 5 41.67 ENSG00000225914 0 genome.wustl.edu 37 6 32231727 32231727 + RNA DEL T T - TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 6 32231727 32231727 T - DEL ENSG00000225914 ENST00000425033 human ensembl 74_37 +1 known rna NULL NULL 0.374 - - - no_errors XXbac-BPG154L12.4 Clone_based_vega_gene ENSG00000225914 tier1 27 0 0.00 32 4 11.11 ENSG00000244306 0 genome.wustl.edu 37 14 19856789 19856789 + RNA SNP G G A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 14 19856789 19856789 G A SNP ENSG00000244306 ENST00000551334 human ensembl 74_37 -1 known rna NULL NULL 0.015 - - - no_errors CTD-2314B22.3 Clone_based_vega_gene ENSG00000244306 tier1 - - 101 0 0.00 88 12 12.00 ENSG00000245156 0 genome.wustl.edu 37 11 66039143 66039143 + RNA DEL A A - TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 11 66039143 66039143 A - DEL ENSG00000245156 ENST00000501708 human ensembl 74_37 -1 known rna NULL NULL 0.020 - - - no_errors RP11-867G23.3 Clone_based_vega_gene ENSG00000245156 tier1 37 0 0.00 14 3 17.65 ERI2 0 genome.wustl.edu 37 16 20814939 20814939 + Missense_Mutation SNP C C G TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 16 20814939 20814939 C G SNP ERI2 ENST00000357967 human ensembl 74_37 -1 known missense c.77 p.G26A 0.000 NULL pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Znf_GRF,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors ERI2 HGNC ENSG00000196678 tier1 - - 18 0 0.00 21 5 19.23 FAM131A 0 genome.wustl.edu 37 3 184062689 184062689 + Missense_Mutation SNP A A T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 3 184062689 184062689 A T SNP FAM131A ENST00000383847 human ensembl 74_37 +1 known missense c.1032 p.Q344H 1.000 NULL NULL - no_errors FAM131A HGNC ENSG00000175182 tier1 - - 75 0 0.00 58 25 30.12 FAM189A1 0 genome.wustl.edu 37 15 29488677 29488677 + Frame_Shift_Del DEL T T - TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 15 29488677 29488677 T - DEL FAM189A1 ENST00000261275 human ensembl 74_37 -1 known frame_shift_del c.479 p.N160fs 1.000 pfam_CD20-like pfam_CD20-like - no_errors FAM189A1 HGNC ENSG00000104059 tier1 33 0 0.00 24 2 7.69 FAM198B 0 genome.wustl.edu 37 4 159052052 159052052 + Missense_Mutation SNP G G T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 4 159052052 159052052 G T SNP FAM198B ENST00000393807 human ensembl 74_37 -1 known missense c.1262 p.A421E 0.060 NULL NULL - no_errors FAM198B HGNC ENSG00000164125 tier1 - - 44 0 0.00 51 4 7.27 FARP2 0 genome.wustl.edu 37 2 242407662 242407662 + Missense_Mutation SNP G G C TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 2 242407662 242407662 G C SNP FARP2 ENST00000264042 human ensembl 74_37 +1 known missense c.2001 p.Q667H 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FARP2 HGNC ENSG00000006607 51 0 0.00 43 3 6.52 FAT4 0 genome.wustl.edu 37 4 126239676 126239676 + Missense_Mutation SNP G G A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 4 126239676 126239676 G A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.2110 p.G704R 0.972 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin 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 tier1 - - 40 0 0.00 23 14 37.84 GATA1 0 genome.wustl.edu 37 X 48650412 48650412 + Missense_Mutation SNP G G A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 X 48650412 48650412 G A SNP GATA1 ENST00000376670 human ensembl 74_37 +1 known missense c.382 p.G128S 0.741 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA1 HGNC ENSG00000102145 tier1 - - 50 0 0.00 10 24 70.59 GIT2 0 genome.wustl.edu 37 12 110383086 110383086 + Silent SNP C C A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 12 110383086 110383086 C A SNP GIT2 ENST00000355312 human ensembl 74_37 -1 known silent c.1710 p.S570 0.411 NULL pfam_GIT1_C,pfam_GIT_SHD,pfam_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_ArfGAP,smart_Ankyrin_rpt,smart_GIT_SHD,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_ArfGAP,prints_ArfGAP - no_errors GIT2 HGNC ENSG00000139436 tier1 - - 25 0 0.00 16 14 46.67 GJA1 0 genome.wustl.edu 37 6 121768356 121768356 + Silent SNP C C T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 6 121768356 121768356 C T SNP GJA1 ENST00000282561 human ensembl 74_37 +1 known silent c.363 p.V121 0.265 NULL pfam_Connexin_N,pfam_Connexin_CCC,pfam_Connexin43_C,smart_Connexin_N,prints_Connexin,prints_Connexin43 - no_errors GJA1 HGNC ENSG00000152661 tier1 - - 62 0 0.00 47 26 35.62 GPR111 0 genome.wustl.edu 37 6 47647898 47647898 + Frame_Shift_Del DEL A A - TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 6 47647898 47647898 A - DEL GPR111 ENST00000296862 human ensembl 74_37 +1 known frame_shift_del c.563 p.K189fs 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR111 HGNC ENSG00000164393 tier1 36 0 0.00 28 2 6.67 GREB1 0 genome.wustl.edu 37 2 11696879 11696879 + Missense_Mutation SNP C C A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 2 11696879 11696879 C A SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known missense c.139 p.Q47K 1.000 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 tier1 - - 89 0 0.00 68 4 5.56 GRIK2 0 genome.wustl.edu 37 6 102376504 102376504 + Missense_Mutation SNP C C G TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 6 102376504 102376504 C G SNP GRIK2 ENST00000421544 human ensembl 74_37 +1 known missense c.2082 p.F694L 1.000 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 tier1 - - 25 0 0.00 24 4 14.29 GTPBP2 0 genome.wustl.edu 37 6 43588627 43588627 + RNA SNP T T C TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 6 43588627 43588627 T C SNP GTPBP2 ENST00000476510 human ensembl 74_37 -1 known rna NULL NULL 0.798 - - - no_errors GTPBP2 HGNC ENSG00000172432 tier1 - - 31 0 0.00 18 9 33.33 GUCY1A3 0 genome.wustl.edu 37 4 156632055 156632055 + Missense_Mutation SNP G G T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 4 156632055 156632055 G T SNP GUCY1A3 ENST00000296518 human ensembl 74_37 +1 known missense c.738 p.E246D 0.973 superfamily_NO_sig/Golgi_transp_ligand-bd pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A3 HGNC ENSG00000164116 tier1 - - 30 0 0.00 22 19 46.34 GUCY1B3 0 genome.wustl.edu 37 4 156724916 156724916 + Missense_Mutation SNP G G T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 4 156724916 156724916 G T SNP GUCY1B3 ENST00000264424 human ensembl 74_37 +1 known missense c.1554 p.Q518H 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1B3 HGNC ENSG00000061918 tier1 - - 42 0 0.00 55 4 6.78 GUSBP1 0 genome.wustl.edu 37 5 21491581 21491581 + RNA SNP G G A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 5 21491581 21491581 G A SNP GUSBP1 ENST00000508260 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors GUSBP1 HGNC ENSG00000183666 tier1 - - 1098 0 0.00 984 70 6.64 HAL 0 genome.wustl.edu 37 12 96387577 96387577 + Missense_Mutation SNP C C G TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 12 96387577 96387577 C G SNP HAL ENST00000261208 human ensembl 74_37 -1 known missense c.524 p.R175T 1.000 pfam_Aromatic_Lyase,superfamily_L-Aspartase-like,tigrfam_HutH pfam_Aromatic_Lyase,superfamily_L-Aspartase-like,tigrfam_HutH - no_errors HAL HGNC ENSG00000084110 tier1 - - 33 0 0.00 43 6 12.24 HCN3 0 genome.wustl.edu 37 1 155247568 155247568 + Missense_Mutation SNP C C T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 1 155247568 155247568 C T SNP HCN3 ENST00000368358 human ensembl 74_37 +1 known missense c.187 p.R63W 1.000 pfam_Ion_trans_N pfam_Ion_trans_N,pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN3 HGNC ENSG00000143630 tier1 - - 70 0 0.00 60 11 15.49 HDLBP 0 genome.wustl.edu 37 2 242207945 242207945 + RNA SNP T T C TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 2 242207945 242207945 T C SNP HDLBP ENST00000462130 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HDLBP HGNC ENSG00000115677 tier1 - - 47 0 0.00 42 13 23.64 HLF 0 genome.wustl.edu 37 17 53398174 53398174 + Missense_Mutation SNP G G C TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 17 53398174 53398174 G C SNP HLF ENST00000226067 human ensembl 74_37 +1 known missense c.822 p.L274F 1.000 pfam_bZIP,smart_bZIP,pfscan_bZIP pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors HLF HGNC ENSG00000108924 48 0 0.00 46 3 6.12 HMCN1 0 genome.wustl.edu 37 1 185985332 185985332 + Missense_Mutation SNP G G T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 1 185985332 185985332 G T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.5152 p.A1718S 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 tier1 - - 59 0 0.00 76 4 5.00 HRASLS 0 genome.wustl.edu 37 3 192980950 192980950 + Missense_Mutation SNP G G C TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 3 192980950 192980950 G C SNP HRASLS ENST00000264735 human ensembl 74_37 +1 known missense c.646 p.A216P 0.754 pfam_LRAT-like_dom pfam_LRAT-like_dom - no_errors HRASLS HGNC ENSG00000127252 tier1 - - 67 0 0.00 68 20 22.73 ICT1 0 genome.wustl.edu 37 17 73008936 73008936 + Missense_Mutation SNP C C G TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 17 73008936 73008936 C G SNP ICT1 ENST00000301585 human ensembl 74_37 +1 known missense c.155 p.S52C 0.103 NULL pfam_Pep_chain_release_fac_I_II - no_errors ICT1 HGNC ENSG00000167862 tier1 - - 24 0 0.00 7 7 50.00 IGSF6 0 genome.wustl.edu 37 16 21658708 21658708 + Missense_Mutation SNP C C A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 16 21658708 21658708 C A SNP IGSF6 ENST00000268389 human ensembl 74_37 -1 known missense c.173 p.C58F 0.990 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF6 HGNC ENSG00000140749 tier1 - - 78 0 0.00 44 27 38.03 IL17RA 0 genome.wustl.edu 37 22 17578725 17578725 + Silent SNP C C T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 22 17578725 17578725 C T SNP IL17RA ENST00000319363 human ensembl 74_37 +1 known silent c.202 p.L68 0.393 NULL pfam_SEFIR - no_errors IL17RA HGNC ENSG00000177663 tier1 - - 61 0 0.00 32 18 36.00 IRX5 0 genome.wustl.edu 37 16 54966749 54966749 + Missense_Mutation SNP G G C TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 16 54966749 54966749 G C SNP IRX5 ENST00000394636 human ensembl 74_37 +1 known missense c.589 p.E197Q 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX5 HGNC ENSG00000176842 tier1 - - 80 0 0.00 41 16 28.07 JPH4 0 genome.wustl.edu 37 14 24041033 24041033 + Silent SNP C C T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 14 24041033 24041033 C T SNP JPH4 ENST00000356300 human ensembl 74_37 -1 known silent c.1248 p.L416 1.000 pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH4 HGNC ENSG00000092051 tier1 - - 57 0 0.00 31 4 11.43 KIAA0196 0 genome.wustl.edu 37 8 126062872 126062872 + Missense_Mutation SNP C C G TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 8 126062872 126062872 C G SNP KIAA0196 ENST00000318410 human ensembl 74_37 -1 known missense c.2133 p.R711S 1.000 pfam_WASH_strumpellin pfam_WASH_strumpellin,superfamily_Ig_E-set - no_errors KIAA0196 HGNC ENSG00000164961 tier1 - - 32 0 0.00 30 4 11.76 KIAA1024L 0 genome.wustl.edu 37 5 129100730 129100730 + Missense_Mutation SNP G G T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 5 129100730 129100730 G T SNP KIAA1024L ENST00000564719 human ensembl 74_37 +1 known missense c.547 p.V183L 1.000 pfam_UPF0258 pfam_UPF0258 - no_errors KIAA1024L HGNC ENSG00000186367 tier1 - - 53 0 0.00 37 4 9.76 KIAA1244 0 genome.wustl.edu 37 6 138607140 138607140 + Missense_Mutation SNP C C G TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 6 138607140 138607140 C G SNP KIAA1244 ENST00000251691 human ensembl 74_37 +1 known missense c.2519 p.T840R 0.031 superfamily_ARM-type_fold pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom - no_errors KIAA1244 HGNC ENSG00000112379 tier1 - - 43 0 0.00 39 17 30.36 KLHL29 0 genome.wustl.edu 37 2 23926091 23926091 + Frame_Shift_Del DEL C C - TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 2 23926091 23926091 C - DEL KLHL29 ENST00000486442 human ensembl 74_37 +1 known frame_shift_del c.2141 p.P715fs 1.000 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1 pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL29 HGNC ENSG00000119771 tier1 63 0 0.00 29 2 6.45 KLRF1 0 genome.wustl.edu 37 12 9994450 9994450 + Missense_Mutation SNP G G A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 12 9994450 9994450 G A SNP KLRF1 ENST00000279544 human ensembl 74_37 +1 known missense c.377 p.C126Y 0.999 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRF1 HGNC ENSG00000150045 36 0 0.00 104 6 5.45 KRI1 0 genome.wustl.edu 37 19 10666007 10666008 + Frame_Shift_Ins INS - - AA TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 19 10666007 10666008 - AA INS KRI1 ENST00000312962 human ensembl 74_37 -1 known frame_shift_ins c.1654_1653 p.K551fs 1.000:1.000 pfam_KRR1-interact_protein_1 pfam_KRR1-interact_protein_1 - no_errors KRI1 HGNC ENSG00000129347 tier1 79 0 0.00 40 24 37.50 LAMA2 0 genome.wustl.edu 37 6 129636761 129636761 + Frame_Shift_Del DEL T T - TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 6 129636761 129636761 T - DEL LAMA2 ENST00000421865 human ensembl 74_37 +1 known frame_shift_del c.3696 p.Y1234fs 0.997 pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 tier1 39 0 0.00 33 2 5.71 LCT 0 genome.wustl.edu 37 2 136570212 136570212 + Silent SNP C C G TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 2 136570212 136570212 C G SNP LCT ENST00000264162 human ensembl 74_37 -1 known silent c.2022 p.L674 0.126 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 tier1 - - 76 0 0.00 51 8 13.56 LENG9 0 genome.wustl.edu 37 19 54973717 54973717 + Silent SNP G G A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 19 54973717 54973717 G A SNP LENG9 ENST00000333834 human ensembl 74_37 -1 known silent c.1059 p.N353 0.000 superfamily_RNA_ligase/cNuc_Pdiesterase superfamily_RNA_ligase/cNuc_Pdiesterase,smart_Znf_CCCH - no_errors LENG9 HGNC ENSG00000182909 tier1 - - 78 0 0.00 54 17 23.94 LIMCH1 0 genome.wustl.edu 37 4 41648815 41648815 + Missense_Mutation SNP C C G TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 4 41648815 41648815 C G SNP LIMCH1 ENST00000503057 human ensembl 74_37 +1 known missense c.2725 p.P909A 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMCH1 HGNC ENSG00000064042 tier1 - - 36 0 0.00 35 4 10.26 LMAN1 0 genome.wustl.edu 37 18 57006155 57006155 + Missense_Mutation SNP C C A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 18 57006155 57006155 C A SNP LMAN1 ENST00000251047 human ensembl 74_37 -1 known missense c.986 p.R329L 1.000 superfamily_HMG_box_dom pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf,superfamily_HMG_box_dom - no_errors LMAN1 HGNC ENSG00000074695 36 0 0.00 29 2 6.45 LOC100130950 0 genome.wustl.edu 37 17 5126838 5126839 + RNA INS - - T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 17 5126838 5126839 - T INS LOC100130950 ENST00000575601 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-333E1.1 Clone_based_vega_gene ENSG00000261879 tier1 25 0 0.00 29 3 9.38 LOC100293748 0 genome.wustl.edu 37 1 149263943 149263944 + RNA INS - - T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 1 149263943 149263944 0 T INS LOC100293748 ENST00000325963 human ensembl 74_37 +1 known rna NULL NULL 0.989:0.991 - - - no_errors RP11-403I13.4 Clone_based_vega_gene ENSG00000223779 8 0 0.00 5 6 54.55 LRRC43 0 genome.wustl.edu 37 12 122676103 122676103 + Missense_Mutation SNP G G T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 12 122676103 122676103 G T SNP LRRC43 ENST00000339777 human ensembl 74_37 +1 known missense c.1078 p.V360F 0.003 NULL NULL - no_errors LRRC43 HGNC ENSG00000158113 33 0 0.00 36 2 5.26 LRRIQ3 0 genome.wustl.edu 37 1 74575212 74575213 + Frame_Shift_Ins INS - - T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 1 74575212 74575213 - T INS LRRIQ3 ENST00000354431 human ensembl 74_37 -1 known frame_shift_ins c.733_732 p.Q244fs 0.001:0.004 pfscan_IQ_motif_EF-hand-BS pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ3 HGNC ENSG00000162620 tier1 30 0 0.00 36 3 7.69 LURAP1L 0 genome.wustl.edu 37 9 12775744 12775744 + Missense_Mutation SNP A A T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 9 12775744 12775744 A T SNP LURAP1L ENST00000319264 human ensembl 74_37 +1 known missense c.30 p.R10S 1.000 NULL NULL - no_errors LURAP1L HGNC ENSG00000153714 tier1 - - 81 0 0.00 21 31 59.62 LYPD3 0 genome.wustl.edu 37 19 43969651 43969651 + Missense_Mutation SNP G G C TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 19 43969651 43969651 G C SNP LYPD3 ENST00000244333 human ensembl 74_37 -1 known missense c.73 p.R25G 0.000 NULL pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors LYPD3 HGNC ENSG00000124466 tier1 - - 104 0 0.00 70 13 15.66 LZTS1 0 genome.wustl.edu 37 8 20110621 20110621 + Frame_Shift_Del DEL T T - TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 8 20110621 20110621 T - DEL LZTS1 ENST00000265801 human ensembl 74_37 -1 known frame_shift_del c.821 p.E274fs 0.973 NULL NULL - no_errors LZTS1 HGNC ENSG00000061337 tier1 56 0 0.00 15 2 11.76 MED12L 0 genome.wustl.edu 37 3 151107839 151107839 + Missense_Mutation SNP C C A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 3 151107839 151107839 C A SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.5419 p.P1807T 0.866 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 tier1 - - 57 0 0.00 54 4 6.90 MEGF8 0 genome.wustl.edu 37 19 42861130 42861130 + Missense_Mutation SNP G G C TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 19 42861130 42861130 G C SNP MEGF8 ENST00000251268 human ensembl 74_37 +1 known missense c.4827 p.E1609D 1.000 superfamily_Gal_Oxase/kelch_b-propeller pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 32 0 0.00 20 3 13.04 MFSD4 0 genome.wustl.edu 37 1 205554106 205554106 + Missense_Mutation SNP C C T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 1 205554106 205554106 C T SNP MFSD4 ENST00000367147 human ensembl 74_37 +1 known missense c.962 p.T321M 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD4 HGNC ENSG00000174514 tier1 - - 79 0 0.00 89 5 5.32 MNAT1 0 genome.wustl.edu 37 14 61275047 61275047 + Silent SNP C C T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 14 61275047 61275047 C T SNP MNAT1 ENST00000261245 human ensembl 74_37 +1 known silent c.321 p.F107 1.000 pirsf_MAT1/Tfb3,pfam_Cdk-activating_kinase_MAT1_cen,tigrfam_MAT1/Tfb3 pirsf_MAT1/Tfb3,pfam_Cdk-activating_kinase_MAT1_cen,smart_Znf_RING,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING,tigrfam_MAT1/Tfb3 - no_errors MNAT1 HGNC ENSG00000020426 61 0 0.00 37 5 11.63 MOGAT1 0 genome.wustl.edu 37 2 223554125 223554125 + Missense_Mutation SNP T T C TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 2 223554125 223554125 T C SNP MOGAT1 ENST00000446656 human ensembl 74_37 +1 known missense c.415 p.Y139H 0.991 pfam_DAGAT pfam_DAGAT - no_errors MOGAT1 HGNC ENSG00000124003 24 0 0.00 34 5 12.82 MOSPD1 0 genome.wustl.edu 37 X 134033227 134033227 + RNA DEL T T - TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 X 134033227 134033227 T - DEL MOSPD1 ENST00000462060 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors MOSPD1 HGNC ENSG00000101928 tier1 30 0 0.00 27 2 6.90 MT-CO1 0 genome.wustl.edu 37 MT 6093 6093 + Missense_Mutation SNP G G A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 MT 6093 6093 G A SNP MT-CO1 ENST00000361624 human ensembl 74_37 +1 known missense c.190 p.V64M NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 tier1 - - 15 0 0.00 7 8 53.33 MYH2 0 genome.wustl.edu 37 17 10451186 10451186 + Nonsense_Mutation SNP G G A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 17 10451186 10451186 G A SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known nonsense c.52 p.R18* 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 tier1 - - 33 0 0.00 27 8 22.86 MYOM3 0 genome.wustl.edu 37 1 24408891 24408891 + RNA SNP C C T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 1 24408891 24408891 C T SNP MYOM3 ENST00000475306 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MYOM3 HGNC ENSG00000142661 tier1 - - 10 0 0.00 11 8 42.11 NAV3 0 genome.wustl.edu 37 12 78400821 78400821 + Silent SNP A A G TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 12 78400821 78400821 A G SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known silent c.1503 p.K501 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 tier1 - - 15 0 0.00 20 11 35.48 NCAM1 0 genome.wustl.edu 37 11 113147541 113147541 + RNA SNP C C T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 11 113147541 113147541 C T SNP NCAM1 ENST00000397957 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors NCAM1 HGNC ENSG00000149294 tier1 - - 28 0 0.00 1 3 75.00 NDST1 0 genome.wustl.edu 37 5 149901145 149901145 + Missense_Mutation SNP A A G TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 5 149901145 149901145 A G SNP NDST1 ENST00000261797 human ensembl 74_37 +1 known missense c.329 p.K110R 1.000 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST1 HGNC ENSG00000070614 tier1 - - 77 0 0.00 18 22 55.00 NLRP7 0 genome.wustl.edu 37 19 55452840 55452840 + Silent SNP G G C TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 19 55452840 55452840 G C SNP NLRP7 ENST00000446217 human ensembl 74_37 -1 known silent c.324 p.L108 0.000 pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP7 HGNC ENSG00000167634 56 0 0.00 45 3 6.25 NOX3 0 genome.wustl.edu 37 6 155764431 155764431 + Silent SNP G G A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 6 155764431 155764431 G A SNP NOX3 ENST00000159060 human ensembl 74_37 -1 known silent c.462 p.L154 1.000 pfam_Fe3_Rdtase_TM_dom pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX3 HGNC ENSG00000074771 43 0 0.00 34 3 8.11 OR14J1 0 genome.wustl.edu 37 6 29274876 29274876 + Missense_Mutation SNP G G A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 6 29274876 29274876 G A SNP OR14J1 ENST00000377160 human ensembl 74_37 +1 known missense c.410 p.R137H 0.000 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 OR14J1 HGNC ENSG00000204695 tier1 - - 50 0 0.00 47 29 37.66 OR2C1 0 genome.wustl.edu 37 16 3406771 3406771 + Missense_Mutation SNP C C G TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 16 3406771 3406771 C G SNP OR2C1 ENST00000304936 human ensembl 74_37 +1 known missense c.831 p.F277L 0.990 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2C1 HGNC ENSG00000168158 tier1 - - 21 0 0.00 12 6 33.33 OR2W5 0 genome.wustl.edu 37 1 247655131 247655131 + RNA SNP G G T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 1 247655131 247655131 G T SNP OR2W5 ENST00000522351 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors OR2W5 HGNC ENSG00000203664 tier1 - - 77 0 0.00 59 23 28.05 OR5H15 0 genome.wustl.edu 37 3 97888442 97888442 + Nonsense_Mutation SNP C C G TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 3 97888442 97888442 C G SNP OR5H15 ENST00000356526 human ensembl 74_37 +1 known nonsense c.899 p.S300* 0.001 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H15 HGNC ENSG00000233412 tier1 - - 38 0 0.00 38 6 13.64 PALM2 0 genome.wustl.edu 37 9 112705193 112705193 + Missense_Mutation SNP C C A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 9 112705193 112705193 C A SNP PALM2 ENST00000448454 human ensembl 74_37 +1 known missense c.730 p.Q244K 1.000 pfam_Paralemmin pfam_Paralemmin - no_errors PALM2 HGNC ENSG00000243444 tier1 - - 22 0 0.00 14 8 36.36 PARD6B 0 genome.wustl.edu 37 20 49366851 49366851 + Missense_Mutation SNP G G C TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 20 49366851 49366851 G C SNP PARD6B ENST00000371610 human ensembl 74_37 +1 known missense c.945 p.E315D 0.948 NULL pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ - no_errors PARD6B HGNC ENSG00000124171 tier1 - - 49 0 0.00 20 11 35.48 PARD6B 0 genome.wustl.edu 37 20 49367006 49367006 + Missense_Mutation SNP G G A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 20 49367006 49367006 G A SNP PARD6B ENST00000371610 human ensembl 74_37 +1 known missense c.1100 p.G367E 1.000 NULL pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ - no_errors PARD6B HGNC ENSG00000124171 17 0 0.00 7 6 46.15 PARP4 0 genome.wustl.edu 37 13 25073461 25073461 + Missense_Mutation SNP G G T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 13 25073461 25073461 G T SNP PARP4 ENST00000381989 human ensembl 74_37 -1 known missense c.455 p.A152E 1.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP4 HGNC ENSG00000102699 30 0 0.00 32 4 11.11 PCDH15 0 genome.wustl.edu 37 10 56424015 56424015 + Missense_Mutation SNP C C T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 10 56424015 56424015 C T SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.8 p.R3Q 0.978 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 36 0 0.00 7 14 66.67 PCDP1 0 genome.wustl.edu 37 2 120395988 120395988 + Missense_Mutation SNP C C T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 2 120395988 120395988 C T SNP PCDP1 ENST00000413369 human ensembl 74_37 +1 known missense c.2128 p.H710Y 1.000 NULL NULL - no_errors PCDP1 Uniprot_gn ENSG00000163075 54 0 0.00 37 3 7.50 PKD2 0 genome.wustl.edu 37 4 88989068 88989068 + Missense_Mutation SNP C C G TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 4 88989068 88989068 C G SNP PKD2 ENST00000237596 human ensembl 74_37 +1 known missense c.2377 p.H793D 1.000 NULL pfam_PKD1_2_channel,pfam_Ion_trans_dom,pfscan_EF_hand_dom,prints_PKD_2,prints_PKD_1 - no_errors PKD2 HGNC ENSG00000118762 tier1 - - 48 0 0.00 34 4 10.53 PKHD1 0 genome.wustl.edu 37 6 51893109 51893109 + Missense_Mutation SNP G G C TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 6 51893109 51893109 G C SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.3405 p.N1135K 0.003 superfamily_Ig_E-set,smart_IPT pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 43 0 0.00 38 4 9.52 PLCH1 0 genome.wustl.edu 37 3 155267678 155267678 + Silent SNP C C T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 3 155267678 155267678 C T SNP PLCH1 ENST00000340059 human ensembl 74_37 -1 known silent c.1224 p.L408 0.998 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 52 0 0.00 49 3 5.77 PLXDC2 0 genome.wustl.edu 37 10 20568836 20568836 + RNA SNP C C T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 10 20568836 20568836 C T SNP PLXDC2 ENST00000377238 human ensembl 74_37 +1 known rna NULL NULL 0.220 - - - no_errors PLXDC2 HGNC ENSG00000120594 tier1 - - 14 0 0.00 9 5 35.71 POLR3A 0 genome.wustl.edu 37 10 79739971 79739971 + Missense_Mutation SNP G G T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 10 79739971 79739971 G T SNP POLR3A ENST00000372371 human ensembl 74_37 -1 known missense c.3952 p.L1318M 1.000 NULL pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N - no_errors POLR3A HGNC ENSG00000148606 tier1 - - 40 0 0.00 17 3 15.00 POU5F2 0 genome.wustl.edu 37 5 93076323 93076323 + Missense_Mutation SNP G G A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 5 93076323 93076323 G A SNP POU5F2 ENST00000510627 human ensembl 74_37 -1 known missense c.947 p.S316F 0.000 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU5F2 HGNC ENSG00000248483 tier1 - - 27 0 0.00 18 3 14.29 POU6F2 0 genome.wustl.edu 37 7 39379288 39379290 + In_Frame_Del DEL CAG CAG - TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 7 39379288 39379290 CAG - DEL POU6F2 ENST00000403058 human ensembl 74_37 +1 known in_frame_del c.559_561 p.Q190in_frame_del 0.172:0.153:0.157 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU6F2 HGNC ENSG00000106536 tier1 57 0 0.00 31 4 11.43 PRSS3 0 genome.wustl.edu 37 9 33797844 33797844 + Missense_Mutation SNP T T A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 9 33797844 33797844 T A SNP PRSS3 ENST00000361005 human ensembl 74_37 +1 known missense c.389 p.L130Q 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS3 HGNC ENSG00000010438 tier1 - - 88 0 0.00 38 7 15.56 PTMA 0 genome.wustl.edu 37 2 232577559 232577559 + Nonstop_Mutation SNP T T C TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 2 232577559 232577559 T C SNP PTMA ENST00000341369 human ensembl 74_37 +1 known nonstop c.334 p.*112Q 1.000 NULL pfam_Pro/parathymosin - no_errors PTMA HGNC ENSG00000187514 22 0 0.00 23 3 11.54 RAB8B 0 genome.wustl.edu 37 15 63548779 63548779 + Missense_Mutation SNP G G C TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 15 63548779 63548779 G C SNP RAB8B ENST00000321437 human ensembl 74_37 +1 known missense c.400 p.E134Q 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB8B HGNC ENSG00000166128 42 0 0.00 27 3 10.00 RBMS2 0 genome.wustl.edu 37 12 56965518 56965518 + Missense_Mutation SNP A A G TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 12 56965518 56965518 A G SNP RBMS2 ENST00000262031 human ensembl 74_37 +1 known missense c.421 p.N141D 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMS2 HGNC ENSG00000076067 tier1 - - 31 0 0.00 17 28 62.22 REPS1 0 genome.wustl.edu 37 6 139238693 139238693 + Missense_Mutation SNP T T C TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 6 139238693 139238693 T C SNP REPS1 ENST00000450536 human ensembl 74_37 -1 known missense c.1600 p.R534G 1.000 NULL smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors REPS1 HGNC ENSG00000135597 tier1 - - 56 0 0.00 39 29 42.65 RIPPLY1 0 genome.wustl.edu 37 X 106145440 106145440 + Missense_Mutation SNP G G T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 X 106145440 106145440 G T SNP RIPPLY1 ENST00000276173 human ensembl 74_37 -1 known missense c.161 p.T54N 0.016 NULL NULL - no_errors RIPPLY1 HGNC ENSG00000147223 16 0 0.00 20 4 16.67 RNF139 0 genome.wustl.edu 37 8 125498688 125498688 + Silent SNP C C T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 8 125498688 125498688 C T SNP RNF139 ENST00000303545 human ensembl 74_37 +1 known silent c.798 p.F266 0.988 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF139 HGNC ENSG00000170881 tier1 - - 18 0 0.00 14 9 39.13 RNF25 0 genome.wustl.edu 37 2 219529070 219529070 + Silent SNP G G A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 2 219529070 219529070 G A SNP RNF25 ENST00000295704 human ensembl 74_37 -1 known silent c.990 p.G330 0.874 NULL pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,smart_Znf_RING,pfscan_RWD-domain,pfscan_Znf_RING - no_errors RNF25 HGNC ENSG00000163481 tier1 - - 89 0 0.00 50 28 35.90 RP1L1 0 genome.wustl.edu 37 8 10466069 10466069 + Missense_Mutation SNP C C G TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 8 10466069 10466069 C G SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.5539 p.E1847Q 0.001 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 tier1 - - 91 0 0.00 47 18 27.69 RP1L1 0 genome.wustl.edu 37 8 10466966 10466966 + Missense_Mutation SNP G G T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 8 10466966 10466966 G T SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.4642 p.Q1548K 0.005 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 tier1 - - 48 0 0.00 43 13 23.21 RPAP2 0 genome.wustl.edu 37 1 92846387 92846387 + Nonsense_Mutation SNP G G T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 1 92846387 92846387 G T SNP RPAP2 ENST00000610020 human ensembl 74_37 +1 known nonsense c.1795 p.E599* 1.000 NULL pfam_DUF408 - no_errors RPAP2 HGNC ENSG00000122484 tier1 - - 56 0 0.00 31 26 45.61 RPGRIP1L 0 genome.wustl.edu 37 16 53675262 53675262 + Missense_Mutation SNP G G T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 16 53675262 53675262 G T SNP RPGRIP1L ENST00000379925 human ensembl 74_37 -1 known missense c.2809 p.R937S 0.000 NULL pfam_DUF3250,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RPGRIP1L HGNC ENSG00000103494 27 0 0.00 27 2 6.90 RPL13P5 0 genome.wustl.edu 37 12 6993412 6993412 + RNA SNP G G C TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 12 6993412 6993412 G C SNP RPL13P5 ENST00000412023 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RPL13P5 HGNC ENSG00000240370 tier1 - - 62 0 0.00 86 6 6.52 RPP21 0 genome.wustl.edu 37 6 30312963 30312963 + Silent SNP G G A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 6 30312963 30312963 G A SNP RPP21 ENST00000428040 human ensembl 74_37 +1 known silent c.15 p.V5 0.999 NULL pfam_Rpr2 - no_errors RPP21 HGNC ENSG00000241370 tier1 - - 64 0 0.00 29 11 27.50 RTP4 0 genome.wustl.edu 37 3 187086357 187086357 + Missense_Mutation SNP A A T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 3 187086357 187086357 A T SNP RTP4 ENST00000259030 human ensembl 74_37 +1 known missense c.128 p.K43M 0.978 NULL NULL - no_errors RTP4 HGNC ENSG00000136514 tier1 - - 16 0 0.00 13 7 35.00 SEC24C 0 genome.wustl.edu 37 10 75526572 75526572 + Silent SNP A A T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 10 75526572 75526572 A T SNP SEC24C ENST00000339365 human ensembl 74_37 +1 known silent c.1854 p.V618 1.000 pfam_Sec23/24_trunk_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24C HGNC ENSG00000176986 tier1 - - 47 0 0.00 40 18 31.03 SEPT5 0 genome.wustl.edu 37 22 19708187 19708187 + Missense_Mutation SNP C C T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 22 19708187 19708187 C T SNP SEPT5 ENST00000383045 human ensembl 74_37 +1 known missense c.640 p.R214W 0.998 pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT5 HGNC ENSG00000184702 55 0 0.00 47 3 6.00 SH2D3C 0 genome.wustl.edu 37 9 130506980 130506980 + Missense_Mutation SNP G G A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 9 130506980 130506980 G A SNP SH2D3C ENST00000314830 human ensembl 74_37 -1 known missense c.1663 p.P555S 1.000 NULL pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25 - no_errors SH2D3C HGNC ENSG00000095370 tier1 - - 44 0 0.00 24 16 40.00 SLC15A1 0 genome.wustl.edu 37 13 99358508 99358508 + Splice_Site SNP C C G TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 13 99358508 99358508 C G SNP SLC15A1 ENST00000376503 human ensembl 74_37 -1 known splice_site c.1150-1 e16-1 1.000 - - - no_errors SLC15A1 HGNC ENSG00000088386 43 0 0.00 41 3 6.82 SLC25A15 0 genome.wustl.edu 37 13 41379274 41379274 + Missense_Mutation SNP C C G TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 13 41379274 41379274 C G SNP SLC25A15 ENST00000338625 human ensembl 74_37 +1 known missense c.335 p.A112G 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A15 HGNC ENSG00000102743 tier1 - - 75 0 0.00 39 14 26.42 SLC25A6 0 genome.wustl.edu 37 X 1506281 1506281 + Silent SNP G G A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 X 1506281 1506281 G A SNP SLC25A6 ENST00000381401 human ensembl 74_37 -1 known silent c.630 p.I210 0.965 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor,prints_Mit_uncoupling - no_errors SLC25A6 HGNC ENSG00000169100 tier1 - - 58 0 0.00 52 21 28.77 SLC33A1 0 genome.wustl.edu 37 3 155547652 155547652 + Missense_Mutation SNP T T C TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 3 155547652 155547652 T C SNP SLC33A1 ENST00000359479 human ensembl 74_37 -1 known missense c.1307 p.N436S 1.000 superfamily_MFS_dom_general_subst_transpt,tigrfam_AmpG_permease/AT-1 superfamily_MFS_dom_general_subst_transpt,tigrfam_AmpG_permease/AT-1 - no_errors SLC33A1 HGNC ENSG00000169359 tier1 - - 63 0 0.00 69 23 25.00 SLCO1A2 0 genome.wustl.edu 37 12 21448561 21448561 + Missense_Mutation SNP G G A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 12 21448561 21448561 G A SNP SLCO1A2 ENST00000307378 human ensembl 74_37 -1 known missense c.1241 p.S414L 0.807 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1A2 HGNC ENSG00000084453 tier1 - - 40 0 0.00 54 9 14.29 SNORD58A 0 genome.wustl.edu 37 18 47017676 47017676 + RNA SNP C C T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 18 47017676 47017676 C T SNP SNORD58A ENST00000383875 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SNORD58A HGNC ENSG00000206602 tier1 - - 50 0 0.00 45 5 10.00 SNTG1 0 genome.wustl.edu 37 8 51569521 51569521 + Missense_Mutation SNP G G T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 8 51569521 51569521 G T SNP SNTG1 ENST00000518864 human ensembl 74_37 +1 known missense c.902 p.R301I 0.009 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 tier1 - - 36 0 0.00 19 9 32.14 SPATA3 0 genome.wustl.edu 37 2 231860992 231860992 + Missense_Mutation SNP G G A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 2 231860992 231860992 G A SNP SPATA3 ENST00000424440 human ensembl 74_37 +1 known missense c.44 p.R15Q 0.002 NULL NULL - no_errors SPATA3 HGNC ENSG00000173699 tier1 - - 61 0 0.00 41 23 35.38 STAG1 0 genome.wustl.edu 37 3 136141639 136141639 + Missense_Mutation SNP C C G TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 3 136141639 136141639 C G SNP STAG1 ENST00000383202 human ensembl 74_37 -1 known missense c.1804 p.E602Q 1.000 superfamily_ARM-type_fold pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 tier1 - - 41 0 0.00 44 14 24.14 STARD13 0 genome.wustl.edu 37 13 33760148 33760148 + Silent SNP G G T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 13 33760148 33760148 G T SNP STARD13 ENST00000255486 human ensembl 74_37 -1 known silent c.12 p.P4 0.000 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD13 HGNC ENSG00000133121 tier1 - - 28 0 0.00 16 14 46.67 STARD3 0 genome.wustl.edu 37 17 37814733 37814733 + Missense_Mutation SNP C C T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 17 37814733 37814733 C T SNP STARD3 ENST00000336308 human ensembl 74_37 +1 known missense c.505 p.L169F 1.000 pfam_MENTAL pfam_MENTAL,pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,prints_StAR - no_errors STARD3 HGNC ENSG00000131748 tier1 - - 68 0 0.00 30 42 58.33 STPG2 0 genome.wustl.edu 37 4 99049692 99049692 + Missense_Mutation SNP G G A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 4 99049692 99049692 G A SNP STPG2 ENST00000295268 human ensembl 74_37 -1 known missense c.274 p.P92S 1.000 NULL NULL - no_errors STPG2 HGNC ENSG00000163116 40 0 0.00 43 5 10.20 SWAP70 0 genome.wustl.edu 37 11 9749710 9749710 + Missense_Mutation SNP A A T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 11 9749710 9749710 A T SNP SWAP70 ENST00000318950 human ensembl 74_37 +1 known missense c.753 p.K251N 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_EF_hand_dom,pfscan_Pleckstrin_homology - no_errors SWAP70 HGNC ENSG00000133789 tier1 - - 18 0 0.00 26 8 23.53 TAGAP 0 genome.wustl.edu 37 6 159461856 159461856 + Silent SNP G G T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 6 159461856 159461856 G T SNP TAGAP ENST00000367066 human ensembl 74_37 -1 known silent c.486 p.L162 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors TAGAP HGNC ENSG00000164691 tier1 - - 70 0 0.00 58 4 6.45 TANGO6 0 genome.wustl.edu 37 16 68901087 68901087 + Missense_Mutation SNP C C G TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 16 68901087 68901087 C G SNP TANGO6 ENST00000261778 human ensembl 74_37 +1 known missense c.958 p.Q320E 1.000 NULL pfam_DUF2435,pfam_DUF2411,superfamily_ARM-type_fold - no_errors TANGO6 HGNC ENSG00000103047 59 0 0.00 48 4 7.69 TARS 0 genome.wustl.edu 37 5 33457431 33457431 + Missense_Mutation SNP C C A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 5 33457431 33457431 C A SNP TARS ENST00000265112 human ensembl 74_37 +1 known missense c.907 p.P303T 1.000 superfamily_Thr/Ala-tRNA-synth_IIc_edit,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARS HGNC ENSG00000113407 tier1 - - 57 0 0.00 14 18 56.25 TBC1D15 0 genome.wustl.edu 37 12 72312261 72312261 + Missense_Mutation SNP G G T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 12 72312261 72312261 G T SNP TBC1D15 ENST00000550746 human ensembl 74_37 +1 known missense c.1583 p.C528F 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_DUF3548,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D15 HGNC ENSG00000121749 tier1 - - 75 0 0.00 60 51 45.95 TET2 0 genome.wustl.edu 37 4 106157097 106157097 + Silent SNP C C T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 4 106157097 106157097 C T SNP TET2 ENST00000380013 human ensembl 74_37 +1 known silent c.1998 p.D666 0.001 NULL NULL - no_errors TET2 HGNC ENSG00000168769 44 0 0.00 31 2 6.06 TFDP2 0 genome.wustl.edu 37 3 141811953 141811953 + Missense_Mutation SNP G G A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 3 141811953 141811953 G A SNP TFDP2 ENST00000489671 human ensembl 74_37 -1 known missense c.32 p.T11I 1.000 pirsf_Transcrpt_fac_DP pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcrpt_fac_DP - no_errors TFDP2 HGNC ENSG00000114126 tier1 - - 50 0 0.00 68 6 8.11 TKTL2 0 genome.wustl.edu 37 4 164394764 164394764 + Silent SNP C C T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 4 164394764 164394764 C T SNP TKTL2 ENST00000280605 human ensembl 74_37 -1 known silent c.123 p.S41 0.992 pfam_Transketolase_N pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKTL2 HGNC ENSG00000151005 tier1 - - 40 0 0.00 22 19 46.34 TMEM41B 0 genome.wustl.edu 37 11 9304976 9304976 + Missense_Mutation SNP C C G TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 11 9304976 9304976 C G SNP TMEM41B ENST00000299596 human ensembl 74_37 -1 known missense c.871 p.E291Q 1.000 NULL pfam_SNARE_assoc - no_errors TMEM41B HGNC ENSG00000166471 tier1 - - 65 0 0.00 71 5 6.58 TNN 0 genome.wustl.edu 37 1 175096214 175096214 + Missense_Mutation SNP C C T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 1 175096214 175096214 C T SNP TNN ENST00000239462 human ensembl 74_37 +1 known missense c.3038 p.T1013I 0.330 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 tier1 - - 87 0 0.00 101 7 6.48 TP53 0 genome.wustl.edu 37 17 7578394 7578394 + Missense_Mutation SNP T T C TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 17 7578394 7578394 T C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.536 p.H179R 1.000 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 tier1 - - 454 0 0.00 107 303 73.90 TSACC 0 genome.wustl.edu 37 1 156314405 156314405 + Silent SNP C C T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 1 156314405 156314405 C T SNP TSACC ENST00000368251 human ensembl 74_37 +1 known silent c.69 p.L23 0.997 NULL NULL - no_errors TSACC HGNC ENSG00000163467 tier1 - - 46 0 0.00 47 4 7.84 TTN 0 genome.wustl.edu 37 2 179595754 179595754 + Silent SNP G G A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 2 179595754 179595754 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.13906 p.L4636 0.793 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 71 0 0.00 42 24 35.82 TXNRD2 0 genome.wustl.edu 37 22 19885562 19885562 + Missense_Mutation SNP C C A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 22 19885562 19885562 C A SNP TXNRD2 ENST00000535882 human ensembl 74_37 -1 known missense c.771 p.Q257H 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,tigrfam_Thioredoxin/glutathione_Rdtase pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,tigrfam_Thioredoxin/glutathione_Rdtase - no_errors TXNRD2 HGNC ENSG00000184470 tier1 - - 25 0 0.00 14 5 26.32 UBAP2L 0 genome.wustl.edu 37 1 154242091 154242091 + RNA SNP G G C TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 1 154242091 154242091 G C SNP UBAP2L ENST00000484819 human ensembl 74_37 +1 known rna NULL NULL 0.202 - - - no_errors UBAP2L HGNC ENSG00000143569 tier1 - - 14 0 0.00 2 8 80.00 UBR2 0 genome.wustl.edu 37 6 42582821 42582821 + Missense_Mutation SNP G G T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 6 42582821 42582821 G T SNP UBR2 ENST00000372899 human ensembl 74_37 +1 known missense c.998 p.R333L 1.000 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR2 HGNC ENSG00000024048 36 0 0.00 16 2 11.11 UPK1B 0 genome.wustl.edu 37 3 118913174 118913174 + Missense_Mutation SNP A A G TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 3 118913174 118913174 A G SNP UPK1B ENST00000264234 human ensembl 74_37 +1 known missense c.577 p.M193V 0.988 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors UPK1B HGNC ENSG00000114638 tier1 - - 70 0 0.00 54 18 24.66 VWF 0 genome.wustl.edu 37 12 6128641 6128641 + Missense_Mutation SNP G G A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 12 6128641 6128641 G A SNP VWF ENST00000261405 human ensembl 74_37 -1 known missense c.3943 p.R1315C 1.000 pirsf_VWF,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 tier1 rs61749395 - 97 0 0.00 682 65 8.70 WASH3P 0 genome.wustl.edu 37 15 102506929 102506930 + RNA INS - - TATAG TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 15 102506929 102506930 0 TATAG INS WASH3P ENST00000559884 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors WASH3P HGNC ENSG00000185596 11 0 0.00 3 3 50.00 WDR52 0 genome.wustl.edu 37 3 113145025 113145025 + Nonsense_Mutation SNP G G T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 3 113145025 113145025 G T SNP WDR52 ENST00000393845 human ensembl 74_37 -1 known nonsense c.353 p.S118* 0.871 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR52 HGNC ENSG00000206530 tier1 - - 38 0 0.00 63 4 5.97 WDR89 0 genome.wustl.edu 37 14 64066414 64066414 + Missense_Mutation SNP C C T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 14 64066414 64066414 C T SNP WDR89 ENST00000267522 human ensembl 74_37 -1 known missense c.247 p.D83N 0.181 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR89 HGNC ENSG00000140006 tier1 - - 32 0 0.00 15 11 42.31 YAP1 0 genome.wustl.edu 37 11 102098302 102098302 + Missense_Mutation SNP G G C TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 11 102098302 102098302 G C SNP YAP1 ENST00000282441 human ensembl 74_37 +1 known missense c.1266 p.E422D 0.965 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors YAP1 HGNC ENSG00000137693 tier1 - - 83 0 0.00 37 26 41.27 YLPM1 0 genome.wustl.edu 37 14 75245163 75245163 + Missense_Mutation SNP A A G TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 14 75245163 75245163 A G SNP YLPM1 ENST00000325680 human ensembl 74_37 +1 known missense c.887 p.Y296C 1.000 NULL superfamily_P-loop_NTPase - no_errors YLPM1 HGNC ENSG00000119596 tier1 - - 30 0 0.00 26 17 39.53 YLPM1 0 genome.wustl.edu 37 14 75277108 75277108 + Missense_Mutation SNP G G A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 14 75277108 75277108 G A SNP YLPM1 ENST00000325680 human ensembl 74_37 +1 known missense c.5213 p.R1738Q 1.000 NULL superfamily_P-loop_NTPase - no_errors YLPM1 HGNC ENSG00000119596 tier1 - - 18 0 0.00 9 15 62.50 ZBTB18 0 genome.wustl.edu 37 1 244217284 244217284 + Missense_Mutation SNP G G A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 1 244217284 244217284 G A SNP ZBTB18 ENST00000358704 human ensembl 74_37 +1 known missense c.208 p.D70N 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB18 HGNC ENSG00000179456 tier1 - - 23 0 0.00 28 6 17.65 ZMAT1 0 genome.wustl.edu 37 X 101138438 101138439 + RNA INS - - T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 X 101138438 101138439 - T INS ZMAT1 ENST00000494068 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors ZMAT1 HGNC ENSG00000166432 tier1 20 0 0.00 23 5 17.86 ZNF169 0 genome.wustl.edu 37 9 97062537 97062537 + Missense_Mutation SNP C C A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 9 97062537 97062537 C A SNP ZNF169 ENST00000395395 human ensembl 74_37 +1 known missense c.697 p.H233N 0.948 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF169 HGNC ENSG00000175787 28 0 0.00 27 2 6.90 ZNF302 0 genome.wustl.edu 37 19 35175973 35175973 + Missense_Mutation SNP G G A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 19 35175973 35175973 G A SNP ZNF302 ENST00000423823 human ensembl 74_37 +1 known missense c.1031 p.R344K 0.083 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 ZNF302 HGNC ENSG00000089335 tier1 - - 65 0 0.00 43 23 34.85 ZNF460 0 genome.wustl.edu 37 19 57802468 57802468 + Missense_Mutation SNP G G C TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 19 57802468 57802468 G C SNP ZNF460 ENST00000360338 human ensembl 74_37 +1 known missense c.559 p.E187Q 0.486 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF460 HGNC ENSG00000197714 tier1 - - 37 0 0.00 24 10 29.41 ZNF532 0 genome.wustl.edu 37 18 56651290 56651290 + Silent SNP G G A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 18 56651290 56651290 G A SNP ZNF532 ENST00000336078 human ensembl 74_37 +1 known silent c.3498 p.L1166 0.039 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF532 HGNC ENSG00000074657 tier1 - - 63 0 0.00 61 7 10.29 ZNF541 0 genome.wustl.edu 37 19 48048783 48048783 + Missense_Mutation SNP G G A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 19 48048783 48048783 G A SNP ZNF541 ENST00000314121 human ensembl 74_37 -1 known missense c.1003 p.P335S 0.001 NULL pfam_ELM2_dom,pfam_Znf_C2H2,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors ZNF541 HGNC ENSG00000118156 tier1 - - 100 0 0.00 50 20 28.57 ZNF578 0 genome.wustl.edu 37 19 53014448 53014448 + Nonsense_Mutation SNP C C T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 19 53014448 53014448 C T SNP ZNF578 ENST00000421239 human ensembl 74_37 +1 known nonsense c.814 p.R272* 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 ZNF578 HGNC ENSG00000258405 tier1 - - 88 0 0.00 76 5 6.10 ZNF644 0 genome.wustl.edu 37 1 91406192 91406192 + Missense_Mutation SNP G G T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 1 91406192 91406192 G T SNP ZNF644 ENST00000337393 human ensembl 74_37 -1 known missense c.719 p.T240K 0.979 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF644 HGNC ENSG00000122482 25 0 0.00 34 2 5.56 ZNF678 0 genome.wustl.edu 37 1 227751338 227751338 + RNA SNP G G T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ebed6452-e3f7-49f5-9596-9ac4a0add3eb 06c9b1ff-4f68-402f-889f-6b6a8d0c7947 1 227751338 227751338 G T SNP ZNF678 ENST00000465266 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors ZNF678 HGNC ENSG00000181450 tier1 - - 68 0 0.00 44 35 44.30