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 NRAS 0 genome.wustl.edu 37 1 115258748 115258748 + Missense_Mutation SNP C C A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 1 115258748 115258748 C A SNP NRAS ENST00000369535 human ensembl 74_37 -1 known missense c.34 p.G12C 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors NRAS HGNC ENSG00000213281 132 0 0 94 50 34.7222 VWA1 0 genome.wustl.edu 37 1 1372328 1372328 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 1 1372328 1372328 G A SNP VWA1 ENST00000476993 human ensembl 74_37 +1 known missense c.95 p.R32Q 0.001 smart_VWF_A pfam_VWF_A,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors VWA1 HGNC ENSG00000179403 118 0 0 89 14 13.5922 POGZ 0 genome.wustl.edu 37 1 151396574 151396574 + Silent SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 1 151396574 151396574 G A SNP POGZ ENST00000271715 human ensembl 74_37 -1 known silent c.1374 p.G458 0.853 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 174 0 0 103 54 34.3949 TCHH 0 genome.wustl.edu 37 1 152080964 152080964 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 1 152080964 152080964 G A SNP TCHH ENST00000368804 human ensembl 74_37 -1 known missense c.4729 p.R1577C 0.008 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 152 0 0 89 50 35.9712 ADORA1 0 genome.wustl.edu 37 1 203134919 203134919 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 1 203134919 203134919 G A SNP ADORA1 ENST00000309502 human ensembl 74_37 +1 known missense c.872 p.R291H 1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adenosn_rcpt,prints_GPCR_Rhodpsn,prints_Adeno_A1_rcpt - no_errors ADORA1 HGNC ENSG00000163485 85 0 0 47 26 35.6164 OBSCN 0 genome.wustl.edu 37 1 228524806 228524806 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 1 228524806 228524806 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.16639 p.V5547I 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 67 0 0 56 20 26.3158 RYR2 0 genome.wustl.edu 37 1 237801713 237801713 + Silent SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 1 237801713 237801713 G A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known silent c.6843 p.K2281 0.993 pfam_Ca-rel_channel pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 268 0 0 157 79 33.4746 ARID1A 0 genome.wustl.edu 37 1 27107162 27107162 + Missense_Mutation SNP T T G TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 1 27107162 27107162 T G SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known missense c.6773 p.L2258R 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 118 0 0 64 54 45.7627 YRDC 0 genome.wustl.edu 37 1 38272879 38272879 + Missense_Mutation SNP C C A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 1 38272879 38272879 C A SNP YRDC ENST00000373044 human ensembl 74_37 -1 known missense c.398 p.R133L 0.739 pfam_YrdC-like_dom,superfamily_DHBP_synth_RibB-like_a/b_dom,pfscan_YrdC-like_dom,tigrfam_YrdC-like_dom pfam_YrdC-like_dom,superfamily_DHBP_synth_RibB-like_a/b_dom,pfscan_YrdC-like_dom,tigrfam_YrdC-like_dom - no_errors YRDC HGNC ENSG00000196449 75 0 0 46 29 38.6667 PTGER3 0 genome.wustl.edu 37 1 71478123 71478123 + Silent SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 1 71478123 71478123 G A SNP PTGER3 ENST00000354608 human ensembl 74_37 -1 known silent c.942 p.H314 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP3_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srbc,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP3_rcpt,prints_Prostanoid_rcpt,prints_EP3_rcpt_2,prints_Prostglndn_DP_rcpt,prints_GPCR_Rhodpsn,prints_Thbox_rcpt - no_errors PTGER3 HGNC ENSG00000050628 71 0 0 32 20 38.4615 EPHX4 0 genome.wustl.edu 37 1 92508453 92508453 + Nonsense_Mutation SNP G G T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 1 92508453 92508453 G T SNP EPHX4 ENST00000370383 human ensembl 74_37 +1 known nonsense c.391 p.G131* 1.000 pfam_AB_hydrolase_1,prints_AB_hydrolase_1 pfam_AB_hydrolase_1,prints_Epox_hydrolase-like,prints_AB_hydrolase_1 - no_errors EPHX4 HGNC ENSG00000172031 88 0 0 62 23 27.0588 PYROXD2 0 genome.wustl.edu 37 10 100154955 100154955 + Silent SNP A A G TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 10 100154955 100154955 A G SNP PYROXD2 ENST00000370575 human ensembl 74_37 -1 known silent c.783 p.S261 1.000 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase - no_errors PYROXD2 HGNC ENSG00000119943 130 1 0.763359 40 82 67.2131 BIRC3 0 genome.wustl.edu 37 11 102195339 102195339 + Missense_Mutation SNP G G C TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 11 102195339 102195339 G C SNP BIRC3 ENST00000263464 human ensembl 74_37 +1 known missense c.99 p.M33I 0.971 pfam_BIR,smart_BIR,pfscan_BIR pfam_BIR,pfam_CARD,superfamily_DEATH-like_dom,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC3 HGNC ENSG00000023445 143 0 0 151 62 29.108 TCP11L1 0 genome.wustl.edu 37 11 33106623 33106623 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 11 33106623 33106623 G A SNP TCP11L1 ENST00000527661 human ensembl 74_37 +1 known missense c.1745 p.R582H 0.001 NULL pfam_Tcp11 - no_errors TCP11L1 HGNC ENSG00000176148 83 0 0 87 25 22.3214 NDUFS3 0 genome.wustl.edu 37 11 47604020 47604020 + Silent SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 11 47604020 47604020 G A SNP NDUFS3 ENST00000263774 human ensembl 74_37 +1 known silent c.627 p.E209 1.000 NULL pfam_NADH_UbQ_OxRdtase_30kDa_su,tigrfam_NADH_DH_suC - no_errors NDUFS3 HGNC ENSG00000213619 360 1 0.277008 381 118 23.6473 CNTF 0 genome.wustl.edu 37 11 58391516 58391516 + Nonsense_Mutation SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 11 58391516 58391516 C T SNP CNTF ENST00000361987 human ensembl 74_37 +1 known nonsense c.124 p.Q42* 1.000 pfam_Ciliary_neurotrophic_fac_CNTF,superfamily_4_helix_cytokine-like_core pfam_Ciliary_neurotrophic_fac_CNTF,superfamily_4_helix_cytokine-like_core - no_errors CNTF HGNC ENSG00000242689 133 0 0 103 35 25.3623 FGF19 0 genome.wustl.edu 37 11 69518053 69518053 + Silent SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 11 69518053 69518053 G A SNP FGF19 ENST00000294312 human ensembl 74_37 -1 known silent c.312 p.G104 0.652 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam,prints_Fibroblast_GF_fam - no_errors FGF19 HGNC ENSG00000162344 16 0 0 22 2 8.33333 CACNA1C 0 genome.wustl.edu 37 12 2719812 2719812 + Nonsense_Mutation SNP G G T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 12 2719812 2719812 G T SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known nonsense c.3664 p.E1222* 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 78 0 0 38 17 30.9091 TEAD4 0 genome.wustl.edu 37 12 3131110 3131110 + Missense_Mutation SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 12 3131110 3131110 C T SNP TEAD4 ENST00000359864 human ensembl 74_37 +1 known missense c.824 p.P275L 1.000 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD4 HGNC ENSG00000197905 189 1 0.526316 137 51 27.1277 ALG10 0 genome.wustl.edu 37 12 34179654 34179654 + Missense_Mutation SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 12 34179654 34179654 C T SNP ALG10 ENST00000266483 human ensembl 74_37 +1 known missense c.1226 p.P409L 1.000 pfam_Alg10,pirsf_Alg10 pfam_Alg10,pirsf_Alg10 - no_errors ALG10 HGNC ENSG00000139133 199 0 0 155 15 8.82353 KMT2D 0 genome.wustl.edu 37 12 49424062 49424062 + Splice_Site SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 12 49424062 49424062 C T SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known splice_site c.13999+1 e42+1 1.000 - - - no_errors KMT2D HGNC ENSG00000167548 10 0 0 7 4 36.3636 C12orf44 0 genome.wustl.edu 37 12 52470726 52470726 + Silent SNP C C A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 12 52470726 52470726 C A SNP C12orf44 ENST00000336854 human ensembl 74_37 +1 known silent c.409 p.R137 1.000 pfam_ATG101 pfam_ATG101 - no_errors C12orf44 HGNC ENSG00000123395 63 0 0 54 3 5.26316 RBMS2 0 genome.wustl.edu 37 12 56975886 56975886 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 12 56975886 56975886 G A SNP RBMS2 ENST00000262031 human ensembl 74_37 +1 known missense c.823 p.A275T 0.958 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMS2 HGNC ENSG00000076067 191 0 0 108 58 34.9398 ALX1 0 genome.wustl.edu 37 12 85677378 85677378 + Silent SNP A A G TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 12 85677378 85677378 A G SNP ALX1 ENST00000316824 human ensembl 74_37 +1 known silent c.255 p.G85 1.000 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors ALX1 HGNC ENSG00000180318 115 0 0 75 11 12.7907 CCDC122 0 genome.wustl.edu 37 13 44433927 44433927 + Missense_Mutation SNP A A G TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 13 44433927 44433927 A G SNP CCDC122 ENST00000281508 human ensembl 74_37 -1 known missense c.436 p.W146R 1.000 NULL NULL - no_errors CCDC122 HGNC ENSG00000151773 130 0 0 95 43 31.1594 NID2 0 genome.wustl.edu 37 14 52508986 52508986 + Silent SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 14 52508986 52508986 C T SNP NID2 ENST00000216286 human ensembl 74_37 -1 known silent c.1662 p.L554 1.000 pfam_G2_nidogen/fibulin_G2F,superfamily_GFP,smart_G2_nidogen/fibulin_G2F,pfscan_G2_nidogen/fibulin_G2F pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID2 HGNC ENSG00000087303 215 1 0.462963 138 57 29.2308 MTHFD1 0 genome.wustl.edu 37 14 64894054 64894054 + Splice_Site SNP G G C TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 14 64894054 64894054 G C SNP MTHFD1 ENST00000216605 human ensembl 74_37 +1 known splice_site c.1128-1 e12-1 1.000 - - - no_errors MTHFD1 HGNC ENSG00000100714 65 0 0 45 27 37.5 CYP19A1 0 genome.wustl.edu 37 15 51503068 51503068 + Silent SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 15 51503068 51503068 C T SNP CYP19A1 ENST00000260433 human ensembl 74_37 -1 known silent c.1449 p.E483 0.793 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP19A1 HGNC ENSG00000137869 126 0 0 50 78 60.9375 ISLR 0 genome.wustl.edu 37 15 74467619 74467619 + Silent SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 15 74467619 74467619 C T SNP ISLR ENST00000249842 human ensembl 74_37 +1 known silent c.420 p.D140 0.872 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors ISLR HGNC ENSG00000129009 44 0 0 38 5 11.6279 MEIOB 0 genome.wustl.edu 37 16 1891975 1891975 + Splice_Site SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 16 1891975 1891975 C T SNP MEIOB ENST00000325962 human ensembl 74_37 -1 known splice_site c.881-1 e10-1 1.000 - - - no_errors MEIOB HGNC ENSG00000162039 69 0 0 63 25 28.4091 ITPRIPL2 0 genome.wustl.edu 37 16 19126204 19126204 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 16 19126204 19126204 G A SNP ITPRIPL2 ENST00000381440 human ensembl 74_37 +1 known missense c.421 p.G141S 0.993 NULL NULL - no_errors ITPRIPL2 HGNC ENSG00000205730 16 0 0 11 4 26.6667 TUFM 0 genome.wustl.edu 37 16 28855126 28855126 + Silent SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 16 28855126 28855126 G A SNP TUFM ENST00000313511 human ensembl 74_37 -1 known silent c.1125 p.S375 0.997 pfam_Transl_elong_EFTu/EF1A_C,superfamily_Transl_elong_EF1A/Init_IF2_C,tigrfam_Transl_elong_EFTu/EF1A_bac/org pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EFTu/EF1A_bac/org - no_errors TUFM HGNC ENSG00000178952 48 0 0 39 15 27.7778 HYDIN 0 genome.wustl.edu 37 16 70908761 70908761 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 16 70908761 70908761 G A SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.10619 p.A3540V 0.998 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 34 0 0 27 17 38.6364 FA2H 0 genome.wustl.edu 37 16 74750315 74750315 + Silent SNP C C A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 16 74750315 74750315 C A SNP FA2H ENST00000219368 human ensembl 74_37 -1 known silent c.969 p.P323 0.031 pfam_Fatty_acid_hydroxylase,pirsf_Ino-phos-ceramide-B_Hydrxlase pfam_Fatty_acid_hydroxylase,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Ino-phos-ceramide-B_Hydrxlase,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Cyt_B5-like_heme/steroid-bd - no_errors FA2H HGNC ENSG00000103089 41 0 0 42 4 8.69565 MYH4 0 genome.wustl.edu 37 17 10362660 10362660 + Silent SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 17 10362660 10362660 G A SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known silent c.1495 p.L499 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 185 0 0 93 46 33.0935 FBXW10 0 genome.wustl.edu 37 17 18675802 18675802 + Missense_Mutation SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 17 18675802 18675802 C T SNP FBXW10 ENST00000308799 human ensembl 74_37 +1 known missense c.2171 p.T724M 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW10 HGNC ENSG00000171931 261 0 0 167 83 33.2 OVCA2 0 genome.wustl.edu 37 17 1945948 1945948 + Silent SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 17 1945948 1945948 G A SNP OVCA2 ENST00000572195 human ensembl 74_37 +1 known silent c.234 p.Q78 0.151 pfam_Serine_hydrolase_FSH pfam_Serine_hydrolase_FSH,pfam_PLipase/COase/thioEstase - no_errors OVCA2 HGNC ENSG00000262664 105 1 0.943396 55 25 31.25 SLC4A1 0 genome.wustl.edu 37 17 42338119 42338119 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 17 42338119 42338119 G A SNP SLC4A1 ENST00000262418 human ensembl 74_37 -1 known missense c.233 p.A78V 0.290 superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_1,tigrfam_HCO3_transpt_euk - no_errors SLC4A1 HGNC ENSG00000004939 71 0 0 33 23 41.0714 ZMYND15 0 genome.wustl.edu 37 17 4646694 4646694 + Missense_Mutation SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 17 4646694 4646694 C T SNP ZMYND15 ENST00000433935 human ensembl 74_37 +1 known missense c.1241 p.P414L 0.712 NULL pfam_Znf_MYND,pfscan_Znf_MYND - no_errors ZMYND15 HGNC ENSG00000141497 224 0 0 151 55 26.699 DGKE 0 genome.wustl.edu 37 17 54912541 54912541 + Missense_Mutation SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 17 54912541 54912541 C T SNP DGKE ENST00000284061 human ensembl 74_37 +1 known missense c.385 p.R129W 0.999 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKE HGNC ENSG00000153933 65 0 0 52 26 33.3333 BAHCC1 0 genome.wustl.edu 37 17 79428363 79428363 + Missense_Mutation SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 17 79428363 79428363 C T SNP BAHCC1 ENST00000307745 human ensembl 74_37 +1 known missense c.6674 p.A2225V 0.999 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors RP11-1055B8.7 Clone_based_vega_gene ENSG00000171282 15 0 0 12 5 29.4118 LOC644669 0 genome.wustl.edu 37 18 15323276 15323276 + RNA SNP A A T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 18 15323276 15323276 A T SNP LOC644669 ENST00000455308 human ensembl 74_37 -1 known rna NULL NULL 0.029 - - - no_errors AP005901.1 Clone_based_vega_gene ENSG00000215512 11 0 0 9 4 30.7692 EPB41L3 0 genome.wustl.edu 37 18 5398077 5398077 + Silent SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 18 5398077 5398077 C T SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known silent c.2415 p.A805 0.434 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 330 0 0 205 108 34.5048 MBP 0 genome.wustl.edu 37 18 74700441 74700441 + Missense_Mutation SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 18 74700441 74700441 C T SNP MBP ENST00000397869 human ensembl 74_37 -1 novel missense c.361 p.E121K 0.010 pfam_Myelin_BP pfam_Myelin_BP,prints_Myelin_BP - no_errors MBP HGNC ENSG00000197971 69 0 0 41 30 42.2535 CYP4F2 0 genome.wustl.edu 37 19 15989736 15989736 + Missense_Mutation SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 19 15989736 15989736 C T SNP CYP4F2 ENST00000221700 human ensembl 74_37 -1 known missense c.1408 p.G470R 1.000 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 CYP4F2 HGNC ENSG00000186115 42 0 0 44 3 6.38298 LSM4 0 genome.wustl.edu 37 19 18420552 18420552 + Silent SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 19 18420552 18420552 G A SNP LSM4 ENST00000593829 human ensembl 74_37 -1 known silent c.264 p.R88 0.043 superfamily_LSM_dom pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors LSM4 HGNC ENSG00000130520 59 0 0 26 17 39.5349 MED29 0 genome.wustl.edu 37 19 39882040 39882040 + Missense_Mutation SNP T T C TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 19 39882040 39882040 T C SNP MED29 ENST00000315588 human ensembl 74_37 +1 known missense c.41 p.L14P 0.971 NULL pfam_Mediator_Med29_met - no_errors MED29 HGNC ENSG00000063322 41 0 0 16 6 27.2727 PHLDB3 0 genome.wustl.edu 37 19 43990419 43990419 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 19 43990419 43990419 G A SNP PHLDB3 ENST00000292140 human ensembl 74_37 -1 known missense c.1484 p.T495M 0.979 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB3 HGNC ENSG00000176531 41 0 0 22 4 15.3846 LIN7B 0 genome.wustl.edu 37 19 49619588 49619588 + Silent SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 19 49619588 49619588 G A SNP LIN7B ENST00000221459 human ensembl 74_37 +1 known silent c.297 p.T99 0.751 pfam_PDZ,superfamily_PDZ,pirsf_Lin-7_homologue,pfscan_PDZ pfam_PDZ,pfam_L27_C,superfamily_PDZ,smart_L27,smart_PDZ,pirsf_Lin-7_homologue,pfscan_L27,pfscan_PDZ - no_errors LIN7B HGNC ENSG00000104863 51 0 0 36 16 30.7692 ZNF610 0 genome.wustl.edu 37 19 52857558 52857558 + Missense_Mutation SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 19 52857558 52857558 C T SNP ZNF610 ENST00000321287 human ensembl 74_37 +1 known missense c.245 p.P82L 0.003 smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF610 HGNC ENSG00000167554 93 0 0 52 19 26.7606 PSD4 0 genome.wustl.edu 37 2 113940394 113940394 + Missense_Mutation SNP G G T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 2 113940394 113940394 G T SNP PSD4 ENST00000245796 human ensembl 74_37 +1 known missense c.361 p.A121S 0.009 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD4 HGNC ENSG00000125637 68 0 0 52 22 29.7297 GREB1 0 genome.wustl.edu 37 2 11750964 11750964 + Silent SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 2 11750964 11750964 G A SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known silent c.2817 p.P939 0.003 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 53 0 0 35 18 33.9623 WDSUB1 0 genome.wustl.edu 37 2 160132102 160132102 + Missense_Mutation SNP C C A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 2 160132102 160132102 C A SNP WDSUB1 ENST00000359774 human ensembl 74_37 -1 known missense c.631 p.D211Y 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Ubox_domain,pfam_SAM_2,pfam_SAM_type1,pfam_Pointed_dom,superfamily_WD40_repeat_dom,superfamily_SAM/pointed,smart_WD40_repeat,smart_SAM,smart_Ubox_domain,pfscan_SAM,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDSUB1 HGNC ENSG00000196151 190 0 0 121 82 40.3941 PXDN 0 genome.wustl.edu 37 2 1653281 1653281 + Silent SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 2 1653281 1653281 G A SNP PXDN ENST00000252804 human ensembl 74_37 -1 known silent c.2271 p.G757 0.057 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 192 0 0 110 52 32.0988 MYO3B 0 genome.wustl.edu 37 2 171371472 171371472 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 2 171371472 171371472 G A SNP MYO3B ENST00000334231 human ensembl 74_37 +1 known missense c.3439 p.A1147T 0.000 NULL pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3B HGNC ENSG00000071909 67 0 0 49 21 30 TTN 0 genome.wustl.edu 37 2 179454415 179454415 + Missense_Mutation SNP A A T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 2 179454415 179454415 A T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.54333 p.D18111E 0.992 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 232 1 0.429185 195 74 27.5093 ZDBF2 0 genome.wustl.edu 37 2 207172945 207172945 + Silent SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 2 207172945 207172945 G A SNP ZDBF2 ENST00000374423 human ensembl 74_37 +1 known silent c.3693 p.T1231 0.034 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 67 0 0 36 18 33.3333 NYAP2 0 genome.wustl.edu 37 2 226491770 226491770 + Missense_Mutation SNP A A C TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 2 226491770 226491770 A C SNP NYAP2 ENST00000272907 human ensembl 74_37 +1 known missense c.1756 p.T586P 0.704 NULL NULL - no_errors NYAP2 HGNC ENSG00000144460 9 0 0 9 8 47.0588 C2orf57 0 genome.wustl.edu 37 2 232458738 232458738 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 2 232458738 232458738 G A SNP C2orf57 ENST00000313965 human ensembl 74_37 +1 known missense c.1076 p.R359H 0.002 NULL NULL - no_errors C2orf57 HGNC ENSG00000177673 86 0 0 62 18 22.5 GPR35 0 genome.wustl.edu 37 2 241569891 241569891 + Silent SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 2 241569891 241569891 G A SNP GPR35 ENST00000438013 human ensembl 74_37 +1 known silent c.615 p.A205 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR35 HGNC ENSG00000178623 99 0 0 91 7 7.14286 ACTG2 0 genome.wustl.edu 37 2 74143812 74143812 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 2 74143812 74143812 G A SNP ACTG2 ENST00000345517 human ensembl 74_37 +1 known missense c.907 p.G303S 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTG2 HGNC ENSG00000163017 53 0 0 46 18 28.125 CTNNA2 0 genome.wustl.edu 37 2 79878715 79878715 + Missense_Mutation SNP A A T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 2 79878715 79878715 A T SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known missense c.135 p.K45N 1.000 prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 123 0 0 70 34 32.6923 FRG1B 0 genome.wustl.edu 37 20 29614328 29614328 + Splice_Site SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 20 29614328 29614328 G A SNP FRG1B ENST00000278882 human ensembl 74_37 +1 known splice_site c.1+1 e0+1 0.990 - - - no_errors FRG1B HGNC ENSG00000149531 44 0 0 46 4 8 BPI 0 genome.wustl.edu 37 20 36932707 36932707 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 20 36932707 36932707 G A SNP BPI ENST00000262865 human ensembl 74_37 +1 known missense c.94 p.V32I 0.258 superfamily_Bactericidal_perm-incr_a/b_dom pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPI HGNC ENSG00000101425 79 0 0 70 24 25.5319 ARFGEF2 0 genome.wustl.edu 37 20 47589805 47589805 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 20 47589805 47589805 G A SNP ARFGEF2 ENST00000371917 human ensembl 74_37 +1 known missense c.1649 p.G550E 1.000 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF2 HGNC ENSG00000124198 56 0 0 38 11 22.449 CLDN14 0 genome.wustl.edu 37 21 37833744 37833744 + Missense_Mutation SNP T T C TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 21 37833744 37833744 T C SNP CLDN14 ENST00000342108 human ensembl 74_37 -1 known missense c.250 p.M84V 1.000 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin2 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin14,prints_Claudin,prints_Claudin2 - no_errors CLDN14 HGNC ENSG00000159261 79 0 0 41 15 26.7857 LSS 0 genome.wustl.edu 37 21 47636354 47636354 + Silent SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 21 47636354 47636354 G A SNP LSS ENST00000356396 human ensembl 74_37 -1 known silent c.732 p.Y244 0.661 superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase - no_errors LSS HGNC ENSG00000160285 71 0 0 46 15 24.5902 POLR2F 0 genome.wustl.edu 37 22 38352790 38352790 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 22 38352790 38352790 G A SNP POLR2F ENST00000442738 human ensembl 74_37 +1 known missense c.31 p.D11N 0.897 superfamily_Pol_omega/K/RPB6 pfam_Pol_omega/K/RPB6,superfamily_Pol_omega/K/RPB6 - no_errors POLR2F HGNC ENSG00000100142 83 0 0 71 27 27.551 CDPF1 0 genome.wustl.edu 37 22 46640993 46640993 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 22 46640993 46640993 G A SNP CDPF1 ENST00000314567 human ensembl 74_37 -1 novel missense c.368 p.T123M 0.000 NULL pfam_Cys-rich_DPF,prints_Cys-rich_DPF - no_errors CDPF1 HGNC ENSG00000205643 100 0 0 75 25 25 TUBGCP6 0 genome.wustl.edu 37 22 50682244 50682244 + Silent SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 22 50682244 50682244 G A SNP TUBGCP6 ENST00000248846 human ensembl 74_37 -1 known silent c.645 p.F215 0.966 NULL pfam_TUBGCP - no_errors TUBGCP6 HGNC ENSG00000128159 46 0 0 29 12 29.2683 STXBP5L 0 genome.wustl.edu 37 3 121100283 121100283 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 3 121100283 121100283 G A SNP STXBP5L ENST00000273666 human ensembl 74_37 +1 known missense c.2563 p.V855I 1.000 pfam_Lgl_C_dom pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5L HGNC ENSG00000145087 184 0 0 155 65 29.5455 ISY1 0 genome.wustl.edu 37 3 128848873 128848873 + RNA SNP T T C TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 3 128848873 128848873 T C SNP ISY1 ENST00000471497 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ISY1 HGNC ENSG00000240682 50 0 0 36 5 12.1951 EFCAB12 0 genome.wustl.edu 37 3 129140548 129140548 + Missense_Mutation SNP A A T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 3 129140548 129140548 A T SNP EFCAB12 ENST00000326085 human ensembl 74_37 -1 known missense c.148 p.F50I 0.494 NULL pfscan_EF_hand_dom - no_errors EFCAB12 HGNC ENSG00000172771 39 0 0 21 12 36.3636 NCK1 0 genome.wustl.edu 37 3 136664893 136664893 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 3 136664893 136664893 G A SNP NCK1 ENST00000288986 human ensembl 74_37 +1 known missense c.695 p.C232Y 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pirsf_Cytoplasmic_NCK,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors NCK1 HGNC ENSG00000158092 110 0 0 73 38 34.2342 ZBTB38 0 genome.wustl.edu 37 3 141164795 141164795 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 3 141164795 141164795 G A SNP ZBTB38 ENST00000321464 human ensembl 74_37 +1 known missense c.3568 p.G1190S 0.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB38 HGNC ENSG00000177311 158 0 0 104 21 16.8 PIK3CA 0 genome.wustl.edu 37 3 178927980 178927980 + Missense_Mutation SNP T T C TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 3 178927980 178927980 T C SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.1258 p.C420R 1.000 pfam_PI3K_C2_dom,superfamily_C2_dom,smart_PI3K_C2_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 87 0 0 65 26 28.5714 GOLGA4 0 genome.wustl.edu 37 3 37365781 37365781 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 3 37365781 37365781 G A SNP GOLGA4 ENST00000361924 human ensembl 74_37 +1 known missense c.2404 p.V802I 0.000 superfamily_tRNA-bd_arm pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC ENSG00000144674 124 0 0 89 34 27.6423 SLC38A3 0 genome.wustl.edu 37 3 50254855 50254855 + RNA SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 3 50254855 50254855 G A SNP SLC38A3 ENST00000414604 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SLC38A3 HGNC ENSG00000188338 19 0 0 24 9 27.2727 DNAH1 0 genome.wustl.edu 37 3 52380535 52380535 + Silent SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 3 52380535 52380535 C T SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known silent c.1704 p.A568 0.928 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 32 0 0 20 6 23.0769 DNAH1 0 genome.wustl.edu 37 3 52417495 52417495 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 3 52417495 52417495 G A SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known missense c.8035 p.V2679I 0.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 33 0 0 17 7 29.1667 DNAH1 0 genome.wustl.edu 37 3 52426895 52426895 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 3 52426895 52426895 G A SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known missense c.10328 p.R3443H 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 171 0 0 81 41 33.6066 C4orf33 0 genome.wustl.edu 37 4 130030790 130030790 + Missense_Mutation SNP C C G TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 4 130030790 130030790 C G SNP C4orf33 ENST00000281146 human ensembl 74_37 +1 known missense c.457 p.P153A 1.000 NULL NULL - no_errors C4orf33 HGNC ENSG00000151470 50 0 0 39 17 30.3571 NR3C2 0 genome.wustl.edu 37 4 149041319 149041319 + Silent SNP T T C TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 4 149041319 149041319 T C SNP NR3C2 ENST00000355292 human ensembl 74_37 -1 known silent c.2643 p.L881 0.840 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR3C2 HGNC ENSG00000151623 117 0 0 69 19 21.5909 KCTD8 0 genome.wustl.edu 37 4 44449880 44449880 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 4 44449880 44449880 G A SNP KCTD8 ENST00000360029 human ensembl 74_37 -1 known missense c.661 p.R221C 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD8 HGNC ENSG00000183783 10 0 0 5 4 44.4444 YTHDC2 0 genome.wustl.edu 37 5 112888990 112888990 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 5 112888990 112888990 G A SNP YTHDC2 ENST00000161863 human ensembl 74_37 +1 known missense c.1801 p.D601N 1.000 superfamily_P-loop_NTPase pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors YTHDC2 HGNC ENSG00000047188 46 0 0 21 9 30 P4HA2 0 genome.wustl.edu 37 5 131552925 131552925 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 5 131552925 131552925 G A SNP P4HA2 ENST00000166534 human ensembl 74_37 -1 known missense c.296 p.A99V 0.857 pfam_Pro_4_hyd_alph_N pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors P4HA2 HGNC ENSG00000072682 104 0 0 62 34 35.4167 BRD8 0 genome.wustl.edu 37 5 137475855 137475855 + Missense_Mutation SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 5 137475855 137475855 C T SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.3616 p.V1206I 1.000 smart_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 103 0 0 63 30 32.2581 PCDHB8 0 genome.wustl.edu 37 5 140559781 140559781 + Silent SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 5 140559781 140559781 G A SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known silent c.2166 p.S722 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC ENSG00000120322 204 0 0 115 41 26.2821 SH3RF2 0 genome.wustl.edu 37 5 145317619 145317619 + Missense_Mutation SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 5 145317619 145317619 C T SNP SH3RF2 ENST00000359120 human ensembl 74_37 +1 known missense c.128 p.A43V 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_SH3_2,pfam_SH3_domain,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_SH3_domain - no_errors SH3RF2 HGNC ENSG00000156463 81 0 0 54 22 28.9474 PCYOX1L 0 genome.wustl.edu 37 5 148748009 148748009 + Missense_Mutation SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 5 148748009 148748009 C T SNP PCYOX1L ENST00000274569 human ensembl 74_37 +1 known missense c.1277 p.P426L 1.000 pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase - no_errors PCYOX1L HGNC ENSG00000145882 72 0 0 43 23 34.8485 EBF1 0 genome.wustl.edu 37 5 158158138 158158138 + Missense_Mutation SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 5 158158138 158158138 C T SNP EBF1 ENST00000313708 human ensembl 74_37 -1 known missense c.1064 p.G355D 1.000 superfamily_bHLH_dom pfam_IPT,superfamily_Ig_E-set,superfamily_bHLH_dom,smart_IPT - no_errors EBF1 HGNC ENSG00000164330 63 0 0 29 14 32.5581 LCP2 0 genome.wustl.edu 37 5 169689677 169689677 + Missense_Mutation SNP C C A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 5 169689677 169689677 C A SNP LCP2 ENST00000046794 human ensembl 74_37 -1 known missense c.888 p.R296S 0.131 NULL pfam_SH2,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,smart_SH2,pfscan_SH2 - no_errors LCP2 HGNC ENSG00000043462 50 0 0 26 3 10.3448 FYB 0 genome.wustl.edu 37 5 39202557 39202557 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 5 39202557 39202557 G A SNP FYB ENST00000540520 human ensembl 74_37 -1 known missense c.536 p.A179V 0.000 NULL pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain - no_errors FYB HGNC ENSG00000082074 188 0 0 111 61 35.4651 POU5F2 0 genome.wustl.edu 37 5 93077167 93077167 + Missense_Mutation SNP A A C TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 5 93077167 93077167 A C SNP POU5F2 ENST00000510627 human ensembl 74_37 -1 known missense c.103 p.L35V 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 42 0 0 19 10 34.4828 SLC35D3 0 genome.wustl.edu 37 6 137245222 137245222 + Silent SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 6 137245222 137245222 C T SNP SLC35D3 ENST00000331858 human ensembl 74_37 +1 known silent c.639 p.H213 0.998 pfam_Tpt_PEP_trans_dom pfam_Tpt_PEP_trans_dom - no_errors SLC35D3 HGNC ENSG00000182747 26 0 0 11 4 26.6667 GRM1 0 genome.wustl.edu 37 6 146720544 146720544 + Missense_Mutation SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 6 146720544 146720544 C T SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.2369 p.T790I 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 138 0 0 74 43 36.7521 SYNE1 0 genome.wustl.edu 37 6 152651705 152651705 + Silent SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 6 152651705 152651705 G A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.14115 p.A4705 0.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 53 0 0 32 11 25.5814 PKHD1 0 genome.wustl.edu 37 6 51512896 51512896 + Silent SNP C C A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 6 51512896 51512896 C A SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known silent c.11331 p.L3777 0.983 NULL pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 161 0 0 101 37 26.8116 COL12A1 0 genome.wustl.edu 37 6 75893230 75893230 + Missense_Mutation SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 6 75893230 75893230 C T SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.1427 p.R476K 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 115 0 0 66 34 34 MUC17 0 genome.wustl.edu 37 7 100678664 100678664 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 7 100678664 100678664 G A SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.3967 p.E1323K 0.011 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 353 1 0.282486 223 102 31.3846 MUC17 0 genome.wustl.edu 37 7 100684284 100684284 + Missense_Mutation SNP C C A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 7 100684284 100684284 C A SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.9587 p.T3196N 0.082 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 495 0 0 262 153 36.8675 IFRD1 0 genome.wustl.edu 37 7 112102348 112102348 + Missense_Mutation SNP T T C TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 7 112102348 112102348 T C SNP IFRD1 ENST00000005558 human ensembl 74_37 +1 known missense c.821 p.L274P 1.000 pfam_Interferon-rel_develop_reg_N,superfamily_ARM-type_fold pfam_Interferon-rel_develop_reg_N,pfam_Interferon-rel_develop_reg_C,superfamily_ARM-type_fold - no_errors IFRD1 HGNC ENSG00000006652 69 0 0 54 28 34.1463 FAM180A 0 genome.wustl.edu 37 7 135418743 135418743 + Missense_Mutation SNP G G T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 7 135418743 135418743 G T SNP FAM180A ENST00000338588 human ensembl 74_37 -1 known missense c.502 p.Q168K 0.000 NULL NULL - no_errors FAM180A HGNC ENSG00000189320 35 0 0 29 9 23.6842 AOC1 0 genome.wustl.edu 37 7 150557574 150557574 + Silent SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 7 150557574 150557574 G A SNP AOC1 ENST00000416793 human ensembl 74_37 +1 known silent c.1899 p.S633 0.000 superfamily_Cu_amine_oxidase_C pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC1 HGNC ENSG00000002726 64 0 0 44 25 36.2319 URGCP 0 genome.wustl.edu 37 7 43917871 43917871 + Silent SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 7 43917871 43917871 G A SNP URGCP ENST00000453200 human ensembl 74_37 -1 known silent c.1191 p.N397 1.000 NULL superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors URGCP HGNC ENSG00000106608 169 0 0 99 52 34.4371 ADCY1 0 genome.wustl.edu 37 7 45614571 45614571 + Silent SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 7 45614571 45614571 C T SNP ADCY1 ENST00000297323 human ensembl 74_37 +1 known silent c.429 p.G143 1.000 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ENSG00000164742 41 0 0 25 13 34.2105 PDGFA 0 genome.wustl.edu 37 7 552006 552006 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 7 552006 552006 G A SNP PDGFA ENST00000354513 human ensembl 74_37 -1 known missense c.247 p.R83W 0.944 pfam_PDGF_N,pfscan_PDGF/VEGF_dom pfam_PDGF/VEGF_dom,pfam_PDGF_N,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors PDGFA HGNC ENSG00000197461 87 0 0 46 23 33.3333 FAM135B 0 genome.wustl.edu 37 8 139209873 139209873 + Missense_Mutation SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 8 139209873 139209873 C T SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known missense c.709 p.A237T 0.975 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 126 0 0 86 20 18.8679 PLEC 0 genome.wustl.edu 37 8 144997456 144997456 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 8 144997456 144997456 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.7052 p.A2351V 0.463 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 30 0 0 14 12 46.1538 PPP3R2 0 genome.wustl.edu 37 9 104356919 104356919 + Silent SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 9 104356919 104356919 C T SNP PPP3R2 ENST00000374806 human ensembl 74_37 -1 known silent c.294 p.A98 0.841 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors PPP3R2 HGNC ENSG00000188386 158 0 0 100 44 30.5556 NUP188 0 genome.wustl.edu 37 9 131768031 131768031 + Silent SNP T T C TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 9 131768031 131768031 T C SNP NUP188 ENST00000372577 human ensembl 74_37 +1 known silent c.4845 p.N1615 0.988 NULL pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 279 0 0 159 83 34.2975 FBXW5 0 genome.wustl.edu 37 9 139835750 139835750 + Silent SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 9 139835750 139835750 G A SNP FBXW5 ENST00000325285 human ensembl 74_37 -1 known silent c.1410 p.D470 0.970 superfamily_Quinoprot_gluc/sorb_DH,smart_WD40_repeat pfam_WD40_repeat,pfam_F-box_dom,superfamily_Quinoprot_gluc/sorb_DH,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW5 HGNC ENSG00000159069 36 0 0 23 9 28.125 SAPCD2 0 genome.wustl.edu 37 9 139960781 139960781 + Missense_Mutation SNP C C T TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 9 139960781 139960781 C T SNP SAPCD2 ENST00000409687 human ensembl 74_37 -1 known missense c.617 p.R206Q 0.957 NULL pfam_APC_dom - no_errors SAPCD2 HGNC ENSG00000186193 21 0 0 15 14 48.2759 MLLT3 0 genome.wustl.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 9 20414340 20414340 G A SNP MLLT3 ENST00000380338 human ensembl 74_37 -1 known silent c.504 p.S168 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT3 HGNC ENSG00000171843 62 0 0 66 4 5.71429 FAM166B 0 genome.wustl.edu 37 9 35562915 35562915 + Missense_Mutation SNP G G A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 9 35562915 35562915 G A SNP FAM166B ENST00000447837 human ensembl 74_37 -1 known missense c.449 p.P150L 0.000 NULL pfam_UPF0573/UPF0605 - no_errors FAM166B HGNC ENSG00000215187 97 0 0 66 31 31.9588 BCOR 0 genome.wustl.edu 37 X 39931763 39931763 + Nonsense_Mutation SNP C C A TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 X 39931763 39931763 C A SNP BCOR ENST00000378444 human ensembl 74_37 -1 known nonsense c.2836 p.E946* 0.922 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 34 0 0 11 9 45 TRIM51HP 0 genome.wustl.edu 37 11 55065032 55065032 + RNA DEL T T - TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 11 55065032 55065032 T - DEL TRIM51HP ENST00000526016 human ensembl 74_37 -1 putative rna NULL NULL 0.010 - - - no_errors TRIM51HP HGNC ENSG00000166007 42 0 0 56 12 17.6471 ARID2 0 genome.wustl.edu 37 12 46298723 46298724 + Frame_Shift_Del DEL AA AA - TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 12 46298723 46298724 AA - DEL ARID2 ENST00000334344 human ensembl 74_37 +1 known frame_shift_del c.5370_5371 p.K1791fs 1.000:1.000 NULL pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ENSG00000189079 63 0 0 40 10 20 CNKSR2 0 genome.wustl.edu 37 X 21627677 21627678 + In_Frame_Ins INS - - GAG TCGA-BR-6455-01A-11D-1800-08 TCGA-BR-6455-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bf3beb5-f999-4822-a0af-ec36f9510d58 db67ce76-e686-4298-a5c1-59638619e250 X 21627677 21627678 - GAG INS CNKSR2 ENST00000379510 human ensembl 74_37 +1 known in_frame_ins c.2634_2635 p.882in_frame_insE 0.989:0.997 NULL pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR2 HGNC ENSG00000149970 31 0 0 22 9 29.0323