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 CLCC1 0 genome.wustl.edu 37 1 109486496 109486496 + Missense_Mutation SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 1 109486496 109486496 C T SNP CLCC1 ENST00000356970 human ensembl 74_37 -1 known missense c.523 p.E175K 1.000 pfam_Chloride_chnl_CLIC-like pfam_Chloride_chnl_CLIC-like - no_errors CLCC1 HGNC ENSG00000121940 91 0 0 61 4 6.15385 ATXN7L2 0 genome.wustl.edu 37 1 110030427 110030427 + Splice_Site SNP G G A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 1 110030427 110030427 G A SNP ATXN7L2 ENST00000369870 human ensembl 74_37 +1 known splice_site c.700+1 e5+1 1.000 - - - no_errors ATXN7L2 HGNC ENSG00000162650 52 0 0 54 16 22.8571 SPAG17 0 genome.wustl.edu 37 1 118512700 118512700 + Missense_Mutation SNP T T G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 1 118512700 118512700 T G SNP SPAG17 ENST00000336338 human ensembl 74_37 -1 known missense c.6366 p.K2122N 1.000 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 83 0 0 62 16 20.5128 BCL9 0 genome.wustl.edu 37 1 147090675 147090675 + Silent SNP C C A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 1 147090675 147090675 C A SNP BCL9 ENST00000234739 human ensembl 74_37 +1 known silent c.714 p.P238 0.997 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 364 0 0 377 36 8.71671 PI4KB 0 genome.wustl.edu 37 1 151280124 151280124 + Missense_Mutation SNP G G C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 1 151280124 151280124 G C SNP PI4KB ENST00000271657 human ensembl 74_37 -1 known missense c.1144 p.P382A 1.000 superfamily_Kinase-like_dom pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KB HGNC ENSG00000143393 101 0 0 114 18 13.6364 RPTN 0 genome.wustl.edu 37 1 152127309 152127309 + Missense_Mutation SNP T T C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 1 152127309 152127309 T C SNP RPTN ENST00000316073 human ensembl 74_37 -1 known missense c.2266 p.R756G 0.024 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors RPTN HGNC ENSG00000215853 751 0 0 560 99 15.0228 LELP1 0 genome.wustl.edu 37 1 153177248 153177248 + Missense_Mutation SNP A A C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 1 153177248 153177248 A C SNP LELP1 ENST00000368747 human ensembl 74_37 +1 known missense c.65 p.K22T 0.969 NULL NULL - no_errors LELP1 HGNC ENSG00000203784 196 0 0 219 13 5.60345 TMEM79 0 genome.wustl.edu 37 1 156255304 156255304 + Missense_Mutation SNP A A T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 1 156255304 156255304 A T SNP TMEM79 ENST00000295694 human ensembl 74_37 +1 known missense c.287 p.D96V 0.152 NULL NULL - no_errors TMEM79 HGNC ENSG00000163472 110 0 0 128 17 11.7241 SH2D2A 0 genome.wustl.edu 37 1 156779164 156779164 + Missense_Mutation SNP G G T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 1 156779164 156779164 G T SNP SH2D2A ENST00000392306 human ensembl 74_37 -1 known missense c.863 p.P288H 0.574 NULL pfam_SH2,smart_SH2,pfscan_SH2 - no_errors SH2D2A HGNC ENSG00000027869 308 0 0 426 61 12.5257 IFI16 0 genome.wustl.edu 37 1 159002375 159002375 + Missense_Mutation SNP A A T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 1 159002375 159002375 A T SNP IFI16 ENST00000295809 human ensembl 74_37 +1 known missense c.1223 p.Q408L 0.199 NULL pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC ENSG00000163565 113 0 0 119 20 14.3885 FCRLB 0 genome.wustl.edu 37 1 161693288 161693288 + Missense_Mutation SNP T T C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 1 161693288 161693288 T C SNP FCRLB ENST00000367948 human ensembl 74_37 +1 known missense c.184 p.Y62H 0.999 smart_Ig_sub,pfscan_Ig-like_dom smart_Ig_sub,pfscan_Ig-like_dom - no_errors FCRLB HGNC ENSG00000162746 230 0 0 229 52 18.5053 LRRC52 0 genome.wustl.edu 37 1 165533027 165533027 + Missense_Mutation SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 1 165533027 165533027 C T SNP LRRC52 ENST00000294818 human ensembl 74_37 +1 known missense c.908 p.T303M 0.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC52 HGNC ENSG00000162763 159 0 0 39 67 63.2075 TBX19 0 genome.wustl.edu 37 1 168278066 168278066 + Missense_Mutation SNP A A G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 1 168278066 168278066 A G SNP TBX19 ENST00000367821 human ensembl 74_37 +1 known missense c.1003 p.S335G 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury - no_errors TBX19 HGNC ENSG00000143178 193 0 0 115 23 16.6667 LAMB3 0 genome.wustl.edu 37 1 209800302 209800302 + Silent SNP G G T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 1 209800302 209800302 G T SNP LAMB3 ENST00000356082 human ensembl 74_37 -1 known silent c.1507 p.R503 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB3 HGNC ENSG00000196878 36 0 0 37 8 17.7778 USH2A 0 genome.wustl.edu 37 1 216062312 216062312 + Missense_Mutation SNP T T G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 1 216062312 216062312 T G SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.7679 p.N2560T 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 168 0 0 73 27 27 GPATCH2 0 genome.wustl.edu 37 1 217793711 217793711 + Missense_Mutation SNP G G A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 1 217793711 217793711 G A SNP GPATCH2 ENST00000366935 human ensembl 74_37 -1 known missense c.187 p.R63C 1.000 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH2 HGNC ENSG00000092978 211 1 0.471698 85 37 30.3279 OBSCN 0 genome.wustl.edu 37 1 228481873 228481873 + Missense_Mutation SNP G G C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 1 228481873 228481873 G C SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.11152 p.E3718Q 0.000 pfam_Ig_I-set,pfscan_Ig-like_dom 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 245 0 0 294 36 10.9091 URB2 0 genome.wustl.edu 37 1 229772258 229772258 + Missense_Mutation SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 1 229772258 229772258 C T SNP URB2 ENST00000258243 human ensembl 74_37 +1 known missense c.1898 p.P633L 0.015 NULL pfam_Urb2/Npa2_C - no_errors URB2 HGNC ENSG00000135763 415 0 0 396 69 14.8387 LYST 0 genome.wustl.edu 37 1 235969870 235969870 + Missense_Mutation SNP T T C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 1 235969870 235969870 T C SNP LYST ENST00000389793 human ensembl 74_37 -1 known missense c.2566 p.T856A 0.001 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 250 0 0 50 178 78.0702 OR2T33 0 genome.wustl.edu 37 1 248437048 248437048 + Silent SNP T T C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 1 248437048 248437048 T C SNP OR2T33 ENST00000318021 human ensembl 74_37 -1 known silent c.69 p.Q23 0.003 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T33 HGNC ENSG00000177212 153 0 0 130 37 22.1557 MATN1 0 genome.wustl.edu 37 1 31188993 31188993 + Missense_Mutation SNP G G A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 1 31188993 31188993 G A SNP MATN1 ENST00000373765 human ensembl 74_37 -1 known missense c.970 p.R324C 0.999 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Matrilin_coiled-coil_trimer,pfam_EGF-like_Ca-bd_dom,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_VWF_A - no_errors MATN1 HGNC ENSG00000162510 119 1 0.833333 98 22 18.3333 CAMTA1 0 genome.wustl.edu 37 1 7151392 7151392 + Missense_Mutation SNP A A G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 1 7151392 7151392 A G SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known missense c.263 p.E88G 1.000 pfam_CG-1_dom pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 54 0 0 22 4 15.3846 PKN2 0 genome.wustl.edu 37 1 89250396 89250396 + Missense_Mutation SNP G G T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 1 89250396 89250396 G T SNP PKN2 ENST00000370521 human ensembl 74_37 +1 known missense c.1060 p.V354F 0.982 superfamily_C2_dom,smart_C2_dom pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN2 HGNC ENSG00000065243 96 0 0 62 11 15.0685 TMED5 0 genome.wustl.edu 37 1 93622015 93622015 + Missense_Mutation SNP T T C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 1 93622015 93622015 T C SNP TMED5 ENST00000370282 human ensembl 74_37 -1 known missense c.313 p.M105V 1.000 pfam_GOLD,superfamily_GOLD,pfscan_GOLD pfam_GOLD,superfamily_GOLD,pfscan_GOLD - no_errors TMED5 HGNC ENSG00000117500 77 0 0 27 17 38.6364 CUEDC2 0 genome.wustl.edu 37 10 104183256 104183256 + Missense_Mutation SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 10 104183256 104183256 C T SNP CUEDC2 ENST00000369937 human ensembl 74_37 -1 known missense c.791 p.R264Q 1.000 NULL pfam_CUE,superfamily_UBA-like,pfscan_CUE - no_errors CUEDC2 HGNC ENSG00000107874 233 0 0 125 60 32.4324 SORCS1 0 genome.wustl.edu 37 10 108380195 108380195 + Silent SNP G G A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 10 108380195 108380195 G A SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known silent c.2787 p.N929 1.000 superfamily_PKD_dom pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 164 0 0 89 43 32.5758 OPTN 0 genome.wustl.edu 37 10 13174190 13174190 + Missense_Mutation SNP G G A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 10 13174190 13174190 G A SNP OPTN ENST00000263036 human ensembl 74_37 +1 known missense c.1525 p.G509R 0.137 NULL pfam_NEMO_N - no_errors OPTN HGNC ENSG00000123240 144 0 0 89 11 11 PWWP2B 0 genome.wustl.edu 37 10 134218408 134218408 + Missense_Mutation SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 10 134218408 134218408 C T SNP PWWP2B ENST00000305233 human ensembl 74_37 +1 known missense c.404 p.T135M 0.999 NULL pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom - no_errors PWWP2B HGNC ENSG00000171813 40 0 0 18 10 35.7143 ZNF25 0 genome.wustl.edu 37 10 38241894 38241894 + Missense_Mutation SNP C C G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 10 38241894 38241894 C G SNP ZNF25 ENST00000302609 human ensembl 74_37 -1 known missense c.532 p.E178Q 1.000 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 ZNF25 HGNC ENSG00000175395 243 0 0 59 21 26.25 FAM13C 0 genome.wustl.edu 37 10 61007424 61007424 + Missense_Mutation SNP T T C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 10 61007424 61007424 T C SNP FAM13C ENST00000373868 human ensembl 74_37 -1 known missense c.1708 p.R570G 1.000 NULL NULL - no_errors FAM13C HGNC ENSG00000148541 267 0 0 85 36 29.7521 MUC6 0 genome.wustl.edu 37 11 1016404 1016404 + Missense_Mutation SNP G G A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 11 1016404 1016404 G A SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known missense c.6397 p.P2133S 0.026 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 60 0 0 45 16 26.2295 VWA5A 0 genome.wustl.edu 37 11 123988953 123988953 + Missense_Mutation SNP G G C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 11 123988953 123988953 G C SNP VWA5A ENST00000392748 human ensembl 74_37 +1 known missense c.304 p.G102R 1.000 pfam_VIT,smart_VIT pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors VWA5A HGNC ENSG00000110002 132 0 0 87 17 16.3462 CDON 0 genome.wustl.edu 37 11 125891294 125891294 + Missense_Mutation SNP T T G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 11 125891294 125891294 T G SNP CDON ENST00000392693 human ensembl 74_37 -1 known missense c.198 p.K66N 0.048 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CDON HGNC ENSG00000064309 143 0 0 85 44 34.1085 C11orf74 0 genome.wustl.edu 37 11 36654982 36654982 + Silent SNP A A G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 11 36654982 36654982 A G SNP C11orf74 ENST00000334307 human ensembl 74_37 +1 known silent c.285 p.E95 1.000 NULL NULL - no_errors C11orf74 HGNC ENSG00000166352 65 0 0 31 6 16.2162 FOLH1 0 genome.wustl.edu 37 11 49179550 49179550 + Missense_Mutation SNP T T C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 11 49179550 49179550 T C SNP FOLH1 ENST00000256999 human ensembl 74_37 -1 known missense c.1486 p.S496G 1.000 NULL pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 111 0 0 54 20 27.027 MS4A14 0 genome.wustl.edu 37 11 60167892 60167892 + Missense_Mutation SNP T T C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 11 60167892 60167892 T C SNP MS4A14 ENST00000300187 human ensembl 74_37 +1 known missense c.283 p.Y95H 0.336 pfam_CD20-like pfam_CD20-like - no_errors MS4A14 HGNC ENSG00000166928 34 0 0 13 4 23.5294 PHRF1 0 genome.wustl.edu 37 11 611720 611720 + Silent SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 11 611720 611720 C T SNP PHRF1 ENST00000264555 human ensembl 74_37 +1 known silent c.4893 p.R1631 0.852 NULL pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC ENSG00000070047 55 0 0 31 29 48.3333 KDM2A 0 genome.wustl.edu 37 11 67015837 67015837 + Missense_Mutation SNP C C G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 11 67015837 67015837 C G SNP KDM2A ENST00000529006 human ensembl 74_37 +1 known missense c.2051 p.A684G 0.999 superfamily_Znf_FYVE_PHD pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2A HGNC ENSG00000173120 24 0 0 25 3 10.7143 CTTN 0 genome.wustl.edu 37 11 70260669 70260669 + Nonsense_Mutation SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 11 70260669 70260669 C T SNP CTTN ENST00000301843 human ensembl 74_37 +1 known nonsense c.313 p.Q105* 1.000 pfam_Hs1_Cortactin,pfscan_Hs1_Cortactin pfam_Hs1_Cortactin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_Hs1_Cortactin,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors CTTN HGNC ENSG00000085733 177 0 0 64 107 62.5731 SYT9 0 genome.wustl.edu 37 11 7334732 7334732 + Missense_Mutation SNP T T G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 11 7334732 7334732 T G SNP SYT9 ENST00000318881 human ensembl 74_37 +1 known missense c.604 p.L202V 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT9 HGNC ENSG00000170743 133 0 0 92 20 17.8571 SLCO2B1 0 genome.wustl.edu 37 11 74899258 74899258 + Missense_Mutation SNP C C A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 11 74899258 74899258 C A SNP SLCO2B1 ENST00000289575 human ensembl 74_37 +1 known missense c.1050 p.N350K 1.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO2B1 HGNC ENSG00000137491 60 0 0 70 11 13.5802 ALG8 0 genome.wustl.edu 37 11 77835179 77835179 + Missense_Mutation SNP C C G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 11 77835179 77835179 C G SNP ALG8 ENST00000299626 human ensembl 74_37 -1 known missense c.256 p.D86H 1.000 pfam_Glyco_trans_ALG6/ALG8 pfam_Glyco_trans_ALG6/ALG8 - no_errors ALG8 HGNC ENSG00000159063 222 0 0 177 37 17.2897 FAT3 0 genome.wustl.edu 37 11 92531644 92531644 + Missense_Mutation SNP A A G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 11 92531644 92531644 A G SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.5465 p.K1822R 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 48 0 0 8 9 52.9412 FOLR4 0 genome.wustl.edu 37 11 94039817 94039817 + Missense_Mutation SNP G G A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 11 94039817 94039817 G A SNP FOLR4 ENST00000440961 human ensembl 74_37 +1 novel missense c.277 p.A93T 1.000 pfam_Folate_rcpt-like pfam_Folate_rcpt-like - no_errors FOLR4 HGNC ENSG00000183560 190 0 0 42 43 50.5882 KIAA1033 0 genome.wustl.edu 37 12 105553927 105553927 + Splice_Site SNP G G T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 12 105553927 105553927 G T SNP KIAA1033 ENST00000332180 human ensembl 74_37 +1 known splice_site c.3060+1 e29+1 1.000 - - - no_errors KIAA1033 HGNC ENSG00000136051 194 0 0 30 43 58.9041 UBE3B 0 genome.wustl.edu 37 12 109945444 109945444 + Missense_Mutation SNP A A C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 12 109945444 109945444 A C SNP UBE3B ENST00000342494 human ensembl 74_37 +1 known missense c.1526 p.K509T 0.996 NULL pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3B HGNC ENSG00000151148 158 0 0 141 45 24.1935 PTPRO 0 genome.wustl.edu 37 12 15661640 15661640 + Missense_Mutation SNP T T A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 12 15661640 15661640 T A SNP PTPRO ENST00000281171 human ensembl 74_37 +1 known missense c.1403 p.V468E 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRO HGNC ENSG00000151490 124 0 0 56 32 36.3636 ATF1 0 genome.wustl.edu 37 12 51203290 51203290 + Silent SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 12 51203290 51203290 C T SNP ATF1 ENST00000262053 human ensembl 74_37 +1 known silent c.246 p.D82 1.000 pfam_Coactivator_CBP_pKID,pfscan_Coactivator_CBP_pKID pfam_bZIP,pfam_Coactivator_CBP_pKID,smart_bZIP,pfscan_Coactivator_CBP_pKID,pfscan_bZIP,prints_Leuzip_CREB - no_errors ATF1 HGNC ENSG00000123268 140 1 0.70922 71 7 8.97436 ESYT1 0 genome.wustl.edu 37 12 56525074 56525074 + Missense_Mutation SNP T T G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 12 56525074 56525074 T G SNP ESYT1 ENST00000267113 human ensembl 74_37 +1 known missense c.688 p.C230G 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom - no_errors ESYT1 HGNC ENSG00000139641 164 0 0 128 73 36.3184 SMARCC2 0 genome.wustl.edu 37 12 56559402 56559402 + Silent SNP G G T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 12 56559402 56559402 G T SNP SMARCC2 ENST00000267064 human ensembl 74_37 -1 known silent c.2839 p.R947 1.000 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 105 0 0 116 40 25.641 RDH16 0 genome.wustl.edu 37 12 57348835 57348835 + Missense_Mutation SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 12 57348835 57348835 C T SNP RDH16 ENST00000398138 human ensembl 74_37 -1 known missense c.427 p.D143N 0.972 pfam_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors RDH16 HGNC ENSG00000139547 137 0 0 108 23 17.5573 NCAPD2 0 genome.wustl.edu 37 12 6637165 6637165 + Silent SNP C C A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 12 6637165 6637165 C A SNP NCAPD2 ENST00000315579 human ensembl 74_37 +1 known silent c.3051 p.L1017 0.313 superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 - no_errors NCAPD2 HGNC ENSG00000010292 203 0 0 52 151 74.3842 CLEC4D 0 genome.wustl.edu 37 12 8670761 8670761 + Silent SNP G G A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 12 8670761 8670761 G A SNP CLEC4D ENST00000299665 human ensembl 74_37 +1 known silent c.123 p.V41 0.832 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC4D HGNC ENSG00000166527 28 0 0 19 6 24 EPYC 0 genome.wustl.edu 37 12 91371992 91371992 + Silent SNP A A G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 12 91371992 91371992 A G SNP EPYC ENST00000261172 human ensembl 74_37 -1 known silent c.213 p.T71 0.971 NULL pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors EPYC HGNC ENSG00000083782 155 0 0 64 18 21.9512 ADPRHL1 0 genome.wustl.edu 37 13 114079444 114079444 + Missense_Mutation SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 13 114079444 114079444 C T SNP ADPRHL1 ENST00000375418 human ensembl 74_37 -1 known missense c.697 p.E233K 1.000 pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro - no_errors ADPRHL1 HGNC ENSG00000153531 178 0 0 75 26 25.7426 RCBTB2 0 genome.wustl.edu 37 13 49089853 49089853 + Silent SNP A A G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 13 49089853 49089853 A G SNP RCBTB2 ENST00000430805 human ensembl 74_37 -1 known silent c.82 p.L28 0.113 NULL pfam_Reg_chr_condens,pfam_BTB_POZ,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RCBTB2 HGNC ENSG00000136161 178 0 0 34 110 76.3889 WARS 0 genome.wustl.edu 37 14 100835430 100835430 + Silent SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 14 100835430 100835430 C T SNP WARS ENST00000355338 human ensembl 74_37 -1 known silent c.93 p.A31 0.000 pfam_WHEP-TRS,superfamily_S15_NS1_RNA-bd,pfscan_WHEP-TRS pfam_aa-tRNA-synth_Ic,pfam_WHEP-TRS,superfamily_S15_NS1_RNA-bd,pfscan_WHEP-TRS,prints_Trp-tRNA-ligase,tigrfam_Trp-tRNA-ligase - no_errors WARS HGNC ENSG00000140105 52 0 0 31 10 24.3902 SNORD114-19 0 genome.wustl.edu 37 14 101442848 101442848 + RNA SNP T T G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 14 101442848 101442848 T G SNP SNORD114-19 ENST00000363072 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNORD114-19 HGNC ENSG00000199942 183 0 0 70 24 25.5319 EIF5 0 genome.wustl.edu 37 14 103806804 103806804 + Missense_Mutation SNP T T G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 14 103806804 103806804 T G SNP EIF5 ENST00000216554 human ensembl 74_37 +1 known missense c.1112 p.I371S 1.000 pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain pfam_Transl_init_fac_IF2/IF5,pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Transl_init_fac_IF2/IF5_N,superfamily_Transl_init_fac_IF2/IF5_Zn-bd,smart_Transl_init_fac_IF2/IF5,smart_W2_domain - no_errors EIF5 HGNC ENSG00000100664 390 0 0 136 52 27.6596 JAG2 0 genome.wustl.edu 37 14 105615612 105615612 + Missense_Mutation SNP G G A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 14 105615612 105615612 G A SNP JAG2 ENST00000331782 human ensembl 74_37 -1 known missense c.1648 p.R550C 0.019 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom,pfscan_VWF_C - no_errors JAG2 HGNC ENSG00000184916 289 0 0 71 129 64.5 MIS18BP1 0 genome.wustl.edu 37 14 45716149 45716149 + Missense_Mutation SNP A A T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 14 45716149 45716149 A T SNP MIS18BP1 ENST00000310806 human ensembl 74_37 -1 known missense c.341 p.I114K 1.000 NULL pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MIS18BP1 HGNC ENSG00000129534 118 0 0 62 10 13.8889 SERPINA10 0 genome.wustl.edu 37 14 94754710 94754710 + Missense_Mutation SNP A A G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 14 94754710 94754710 A G SNP SERPINA10 ENST00000261994 human ensembl 74_37 -1 known missense c.905 p.L302P 0.804 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA10 HGNC ENSG00000140093 120 0 0 53 26 32.9114 KLF13 0 genome.wustl.edu 37 15 31664287 31664287 + Missense_Mutation SNP T T C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 15 31664287 31664287 T C SNP KLF13 ENST00000307145 human ensembl 74_37 +1 known missense c.652 p.Y218H 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF13 HGNC ENSG00000169926 55 0 0 18 19 51.3514 AQR 0 genome.wustl.edu 37 15 35219320 35219320 + Missense_Mutation SNP A A G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 15 35219320 35219320 A G SNP AQR ENST00000156471 human ensembl 74_37 -1 known missense c.1034 p.F345S 1.000 NULL superfamily_P-loop_NTPase - no_errors AQR HGNC ENSG00000021776 64 0 0 34 4 10.5263 SNAP23 0 genome.wustl.edu 37 15 42823723 42823723 + Missense_Mutation SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 15 42823723 42823723 C T SNP SNAP23 ENST00000564153 human ensembl 74_37 +1 putative missense c.379 p.P127S 0.969 NULL smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors SNAP23 HGNC ENSG00000092531 79 0 0 58 8 12.1212 TLN2 0 genome.wustl.edu 37 15 63014609 63014609 + Missense_Mutation SNP G G C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 15 63014609 63014609 G C SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known missense c.3049 p.A1017P 1.000 NULL pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN2 HGNC ENSG00000171914 52 0 0 39 10 20.4082 NOX5 0 genome.wustl.edu 37 15 69348915 69348915 + Missense_Mutation SNP A A C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 15 69348915 69348915 A C SNP NOX5 ENST00000388866 human ensembl 74_37 +1 known missense c.2177 p.K726T 0.994 pfam_Fe_red_NAD-bd_6 pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NOX5 HGNC ENSG00000255346 153 0 0 99 29 22.6562 RASGRF1 0 genome.wustl.edu 37 15 79284095 79284095 + Silent SNP G G C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 15 79284095 79284095 G C SNP RASGRF1 ENST00000419573 human ensembl 74_37 -1 known silent c.3117 p.A1039 0.995 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF1 HGNC ENSG00000058335 137 0 0 120 25 17.2414 ACAN 0 genome.wustl.edu 37 15 89400224 89400224 + Missense_Mutation SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 15 89400224 89400224 C T SNP ACAN ENST00000439576 human ensembl 74_37 +1 known missense c.4408 p.L1470F 0.794 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors ACAN HGNC ENSG00000157766 290 0 0 150 42 21.875 IQGAP1 0 genome.wustl.edu 37 15 90996055 90996055 + Missense_Mutation SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 15 90996055 90996055 C T SNP IQGAP1 ENST00000268182 human ensembl 74_37 +1 known missense c.1211 p.A404V 0.993 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_WW_dom,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP - no_errors IQGAP1 HGNC ENSG00000140575 143 0 0 63 53 45.6897 TELO2 0 genome.wustl.edu 37 16 1544428 1544428 + Missense_Mutation SNP G G A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 16 1544428 1544428 G A SNP TELO2 ENST00000262319 human ensembl 74_37 +1 known missense c.146 p.R49K 0.001 NULL pfam_Telomere_length_regulation_dom,superfamily_ARM-type_fold - no_errors TELO2 HGNC ENSG00000100726 377 0 0 273 77 22 IRX6 0 genome.wustl.edu 37 16 55361536 55361536 + Missense_Mutation SNP A A C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 16 55361536 55361536 A C SNP IRX6 ENST00000290552 human ensembl 74_37 +1 known missense c.452 p.K151T 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX6 HGNC ENSG00000159387 59 0 0 40 16 28.5714 ADAMTS18 0 genome.wustl.edu 37 16 77387681 77387681 + Silent SNP A A G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 16 77387681 77387681 A G SNP ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known silent c.1563 p.C521 1.000 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS18 HGNC ENSG00000140873 179 0 0 68 35 33.9806 MYH4 0 genome.wustl.edu 37 17 10366495 10366495 + Silent SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 17 10366495 10366495 C T SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known silent c.816 p.E272 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 73 0 0 28 12 30 NCOR1 0 genome.wustl.edu 37 17 15974752 15974752 + Silent SNP G G T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 17 15974752 15974752 G T SNP NCOR1 ENST00000268712 human ensembl 74_37 -1 known silent c.4123 p.R1375 0.844 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 272 0 0 98 32 24.6154 PLD6 0 genome.wustl.edu 37 17 17106258 17106258 + Silent SNP G G A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 17 17106258 17106258 G A SNP PLD6 ENST00000321560 human ensembl 74_37 -1 known silent c.582 p.Y194 0.344 NULL smart_PLipase_D/transphosphatidylase,pfscan_PLipase_D/transphosphatidylase - no_errors PLD6 HGNC ENSG00000179598 182 0 0 74 33 30.8411 TNFAIP1 0 genome.wustl.edu 37 17 26667426 26667426 + Silent SNP A A G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 17 26667426 26667426 A G SNP TNFAIP1 ENST00000226225 human ensembl 74_37 +1 known silent c.297 p.Q99 0.999 pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors TNFAIP1 HGNC ENSG00000109079 185 0 0 174 10 5.43478 BLMH 0 genome.wustl.edu 37 17 28614874 28614874 + Missense_Mutation SNP A A T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 17 28614874 28614874 A T SNP BLMH ENST00000261714 human ensembl 74_37 -1 known missense c.413 p.M138K 0.908 pfam_Peptidase_C1B,pirsf_Peptidase_C1B pfam_Peptidase_C1B,pirsf_Peptidase_C1B - no_errors BLMH HGNC ENSG00000108578 118 0 0 31 39 55.7143 ASIC2 0 genome.wustl.edu 37 17 31352970 31352970 + Missense_Mutation SNP T T C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 17 31352970 31352970 T C SNP ASIC2 ENST00000225823 human ensembl 74_37 -1 known missense c.1169 p.H390R 1.000 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors ASIC2 HGNC ENSG00000108684 77 0 0 58 18 23.6842 TMEM132E 0 genome.wustl.edu 37 17 32953187 32953187 + Missense_Mutation SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 17 32953187 32953187 C T SNP TMEM132E ENST00000321639 human ensembl 74_37 +1 known missense c.109 p.P37S 0.002 NULL NULL - no_errors TMEM132E HGNC ENSG00000181291 14 0 0 5 6 54.5455 MED1 0 genome.wustl.edu 37 17 37564790 37564790 + Silent SNP A A G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 17 37564790 37564790 A G SNP MED1 ENST00000300651 human ensembl 74_37 -1 known silent c.3684 p.G1228 1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC ENSG00000125686 121 0 0 108 28 20.5882 KRT40 0 genome.wustl.edu 37 17 39137394 39137394 + Missense_Mutation SNP A A C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 17 39137394 39137394 A C SNP KRT40 ENST00000377755 human ensembl 74_37 -1 known missense c.697 p.L233V 0.000 pfam_IF pfam_IF,prints_Keratin_I - no_errors KRT40 HGNC ENSG00000204889 166 0 0 104 9 7.9646 KRTAP9-4 0 genome.wustl.edu 37 17 39406137 39406137 + Silent SNP T T G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 17 39406137 39406137 T G SNP KRTAP9-4 ENST00000334109 human ensembl 74_37 +1 known silent c.165 p.T55 0.054 NULL NULL - no_errors KRTAP9-4 HGNC ENSG00000241595 172 0 0 127 111 46.6387 CNTNAP1 0 genome.wustl.edu 37 17 40839790 40839790 + Missense_Mutation SNP G G A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 17 40839790 40839790 G A SNP CNTNAP1 ENST00000264638 human ensembl 74_37 +1 known missense c.1097 p.G366E 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC ENSG00000108797 166 0 0 187 57 23.3607 C17orf64 0 genome.wustl.edu 37 17 58506848 58506848 + Silent SNP C C G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 17 58506848 58506848 C G SNP C17orf64 ENST00000269127 human ensembl 74_37 +1 known silent c.555 p.S185 1.000 NULL NULL - no_errors C17orf64 HGNC ENSG00000141371 95 0 0 104 16 13.3333 DNAH17 0 genome.wustl.edu 37 17 76455190 76455190 + Missense_Mutation SNP A A T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 17 76455190 76455190 A T SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known missense c.9712 p.Y3238N 1.000 superfamily_P-loop_NTPase,superfamily_HR1_rho-bd pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 448 0 0 228 190 45.4545 CTC1 0 genome.wustl.edu 37 17 8136252 8136252 + Silent SNP A A G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 17 8136252 8136252 A G SNP CTC1 ENST00000315684 human ensembl 74_37 -1 known silent c.1917 p.S639 0.000 NULL NULL - no_errors CTC1 HGNC ENSG00000178971 411 0 0 163 74 31.2236 ANKRD30B 0 genome.wustl.edu 37 18 14851674 14851674 + Missense_Mutation SNP A A G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 18 14851674 14851674 A G SNP ANKRD30B ENST00000358984 human ensembl 74_37 +1 known missense c.3374 p.E1125G 0.742 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 112 0 0 118 18 13.2353 CHST9 0 genome.wustl.edu 37 18 24496464 24496464 + Missense_Mutation SNP T T C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 18 24496464 24496464 T C SNP CHST9 ENST00000284224 human ensembl 74_37 -1 known missense c.1091 p.Y364C 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST9 HGNC ENSG00000154080 191 0 0 78 37 32.1739 PSTPIP2 0 genome.wustl.edu 37 18 43568704 43568704 + Missense_Mutation SNP A A C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 18 43568704 43568704 A C SNP PSTPIP2 ENST00000409746 human ensembl 74_37 -1 known missense c.977 p.V326G 0.002 NULL pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom - no_errors PSTPIP2 HGNC ENSG00000152229 88 0 0 24 10 29.4118 PTPRM 0 genome.wustl.edu 37 18 8376569 8376569 + Missense_Mutation SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 18 8376569 8376569 C T SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known missense c.3439 p.R1147W 0.940 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC ENSG00000173482 101 0 0 116 122 51.2605 RGL3 0 genome.wustl.edu 37 19 11515827 11515827 + Missense_Mutation SNP A A G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 19 11515827 11515827 A G SNP RGL3 ENST00000393423 human ensembl 74_37 -1 known missense c.1181 p.F394S 0.192 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL3 HGNC ENSG00000205517 307 0 0 142 49 25.6545 ZNF439 0 genome.wustl.edu 37 19 11978372 11978372 + Missense_Mutation SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 19 11978372 11978372 C T SNP ZNF439 ENST00000304030 human ensembl 74_37 +1 known missense c.488 p.P163L 0.000 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 ZNF439 HGNC ENSG00000171291 382 0 0 136 8 5.55556 SYDE1 0 genome.wustl.edu 37 19 15222474 15222474 + Silent SNP C C A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 19 15222474 15222474 C A SNP SYDE1 ENST00000342784 human ensembl 74_37 +1 known silent c.1449 p.P483 0.847 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE1 HGNC ENSG00000105137 148 0 0 89 5 5.31915 RAB3A 0 genome.wustl.edu 37 19 18313419 18313419 + Silent SNP G G A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 19 18313419 18313419 G A SNP RAB3A ENST00000222256 human ensembl 74_37 -1 known silent c.132 p.D44 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,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 RAB3A HGNC ENSG00000105649 347 0 0 87 150 63.2911 ZNF208 0 genome.wustl.edu 37 19 22156960 22156960 + Silent SNP T T C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 19 22156960 22156960 T C SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel silent c.876 p.K292 0.014 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 ZNF208 HGNC ENSG00000160321 88 0 0 32 15 31.9149 ZNF208 0 genome.wustl.edu 37 19 22171703 22171703 + Silent SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 19 22171703 22171703 C T SNP ZNF208 ENST00000599916 human ensembl 74_37 -1 putative silent c.12 p.L4 0.165 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF208 HGNC ENSG00000160321 282 0 0 129 7 5.14706 DMKN 0 genome.wustl.edu 37 19 36004180 36004180 + Missense_Mutation SNP T T G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 19 36004180 36004180 T G SNP DMKN ENST00000339686 human ensembl 74_37 -1 known missense c.198 p.K66N 0.021 NULL NULL - no_errors DMKN HGNC ENSG00000161249 190 0 0 108 49 31.2102 CATSPERG 0 genome.wustl.edu 37 19 38855535 38855535 + Missense_Mutation SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 19 38855535 38855535 C T SNP CATSPERG ENST00000409235 human ensembl 74_37 +1 known missense c.2480 p.T827M 0.004 NULL NULL - no_errors CATSPERG HGNC ENSG00000099338 154 0 0 66 19 22.3529 CD3EAP 0 genome.wustl.edu 37 19 45912143 45912143 + Missense_Mutation SNP C C A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 19 45912143 45912143 C A SNP CD3EAP ENST00000589804 human ensembl 74_37 +1 known missense c.923 p.T308K 0.000 NULL pfam_DNA-dir_RNA_pol1_su_RPA34 - no_errors CD3EAP HGNC ENSG00000117877 248 0 0 186 16 7.92079 CEACAM18 0 genome.wustl.edu 37 19 51981912 51981912 + Missense_Mutation SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 19 51981912 51981912 C T SNP CEACAM18 ENST00000451626 human ensembl 74_37 +1 known missense c.199 p.P67S 0.001 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM18 HGNC ENSG00000213822 45 0 0 22 8 26.6667 ZNF534 0 genome.wustl.edu 37 19 52937309 52937309 + Silent SNP G G A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 19 52937309 52937309 G A SNP ZNF534 ENST00000332323 human ensembl 74_37 +1 known silent c.117 p.E39 0.750 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF534 HGNC ENSG00000198633 169 0 0 70 22 23.913 ZNF701 0 genome.wustl.edu 37 19 53085474 53085474 + Missense_Mutation SNP G G A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 19 53085474 53085474 G A SNP ZNF701 ENST00000301093 human ensembl 74_37 +1 known missense c.360 p.M120I 0.000 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF701 HGNC ENSG00000167562 132 0 0 49 11 18.3333 SAFB2 0 genome.wustl.edu 37 19 5587356 5587356 + Silent SNP G G A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 19 5587356 5587356 G A SNP SAFB2 ENST00000252542 human ensembl 74_37 -1 known silent c.2760 p.G920 0.000 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SAFB2 HGNC ENSG00000130254 31 0 0 14 16 53.3333 LPPR3 0 genome.wustl.edu 37 19 815823 815823 + Missense_Mutation SNP G G T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 19 815823 815823 G T SNP LPPR3 ENST00000359894 human ensembl 74_37 -1 known missense c.104 p.S35Y 1.000 superfamily_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR3 Uniprot_gn ENSG00000129951 85 0 0 27 68 71.5789 MUC16 0 genome.wustl.edu 37 19 9070244 9070244 + Silent SNP A A C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 19 9070244 9070244 A C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.17202 p.S5734 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 175 0 0 65 32 32.9897 MUC16 0 genome.wustl.edu 37 19 9085239 9085239 + Silent SNP A A C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 19 9085239 9085239 A C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.6576 p.V2192 0.009 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 49 0 0 34 15 30.6122 MUC16 0 genome.wustl.edu 37 19 9086391 9086391 + Missense_Mutation SNP T T G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 19 9086391 9086391 T G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.5424 p.K1808N 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 137 0 0 50 32 39.0244 RRM2 0 genome.wustl.edu 37 2 10269026 10269026 + Missense_Mutation SNP C C G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 2 10269026 10269026 C G SNP RRM2 ENST00000360566 human ensembl 74_37 +1 known missense c.1030 p.P344A 1.000 pfam_RNR_small,superfamily_Ferritin-like_SF pfam_RNR_small,superfamily_Ferritin-like_SF - no_errors RRM2 HGNC ENSG00000171848 77 0 0 32 12 27.2727 PAX8 0 genome.wustl.edu 37 2 114004419 114004419 + Missense_Mutation SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 2 114004419 114004419 C T SNP PAX8 ENST00000429538 human ensembl 74_37 -1 known missense c.103 p.V35I 1.000 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom pfam_Paired_dom,pfam_Pax2_C,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX8 HGNC ENSG00000125618 65 0 0 70 20 22.2222 DDX18 0 genome.wustl.edu 37 2 118582244 118582244 + Missense_Mutation SNP A A C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 2 118582244 118582244 A C SNP DDX18 ENST00000263239 human ensembl 74_37 +1 known missense c.1166 p.D389A 1.000 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX18 HGNC ENSG00000088205 320 0 0 164 54 24.7706 CNTNAP5 0 genome.wustl.edu 37 2 125405355 125405355 + Missense_Mutation SNP G G A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 2 125405355 125405355 G A SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.1894 p.V632M 0.974 superfamily_Fibrinogen_a/b/g_C_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 35 0 0 37 6 13.9535 TRIB2 0 genome.wustl.edu 37 2 12880833 12880833 + Silent SNP G G A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 2 12880833 12880833 G A SNP TRIB2 ENST00000155926 human ensembl 74_37 +1 known silent c.945 p.S315 0.735 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TRIB2 HGNC ENSG00000071575 127 0 0 32 14 30.4348 NCKAP5 0 genome.wustl.edu 37 2 133541340 133541340 + Missense_Mutation SNP A A G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 2 133541340 133541340 A G SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known missense c.3044 p.V1015A 0.000 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 30 0 0 42 9 17.6471 NCKAP5 0 genome.wustl.edu 37 2 133541966 133541966 + Missense_Mutation SNP C C A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 2 133541966 133541966 C A SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known missense c.2418 p.R806S 0.729 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 420 1 0.23753 152 146 48.9933 NXPH2 0 genome.wustl.edu 37 2 139428996 139428996 + Silent SNP A A G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 2 139428996 139428996 A G SNP NXPH2 ENST00000272641 human ensembl 74_37 -1 known silent c.291 p.T97 1.000 pfam_NXPH/NXPE,pirsf_Neurexophilin pfam_NXPH/NXPE,pirsf_Neurexophilin - no_errors NXPH2 HGNC ENSG00000144227 116 0 0 74 19 20.4301 TANC1 0 genome.wustl.edu 37 2 160035442 160035442 + Missense_Mutation SNP G G A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 2 160035442 160035442 G A SNP TANC1 ENST00000263635 human ensembl 74_37 +1 known missense c.2278 p.V760M 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 406 0 0 253 93 26.8786 TTN 0 genome.wustl.edu 37 2 179647007 179647007 + Missense_Mutation SNP T T G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 2 179647007 179647007 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.3312 p.Q1104H 0.919 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 146 0 0 99 28 22.0472 ASNSD1 0 genome.wustl.edu 37 2 190531620 190531620 + Silent SNP G G A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 2 190531620 190531620 G A SNP ASNSD1 ENST00000260952 human ensembl 74_37 +1 known silent c.762 p.E254 0.000 NULL pfam_Asn_synthase - no_errors ASNSD1 HGNC ENSG00000138381 171 0 0 108 22 16.9231 CXCR2P1 0 genome.wustl.edu 37 2 218925585 218925585 + RNA SNP A A T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 2 218925585 218925585 A T SNP CXCR2P1 ENST00000439871 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors CXCR2P1 HGNC ENSG00000229754 56 0 0 65 11 14.4737 SLC11A1 0 genome.wustl.edu 37 2 219247696 219247696 + Silent SNP C C A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 2 219247696 219247696 C A SNP SLC11A1 ENST00000233202 human ensembl 74_37 +1 known silent c.21 p.P7 0.058 NULL pfam_NRAMP-like,prints_NRAMP-like,tigrfam_NRAMP-like - no_errors SLC11A1 HGNC ENSG00000018280 145 0 0 193 25 11.4679 INHA 0 genome.wustl.edu 37 2 220437172 220437172 + Missense_Mutation SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 2 220437172 220437172 C T SNP INHA ENST00000243786 human ensembl 74_37 +1 known missense c.76 p.R26W 0.999 pirsf_Inhibin_asu_subgr pfam_TGF-b_C,smart_TGF-b_C,pirsf_Inhibin_asu_subgr,prints_Inhibin_asu - no_errors INHA HGNC ENSG00000123999 83 0 0 54 17 23.9437 SP140 0 genome.wustl.edu 37 2 231109728 231109728 + Missense_Mutation SNP G G C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 2 231109728 231109728 G C SNP SP140 ENST00000392045 human ensembl 74_37 +1 known missense c.597 p.Q199H 0.000 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain - no_errors SP140 HGNC ENSG00000079263 116 0 0 74 10 11.9048 SP140 0 genome.wustl.edu 37 2 231112742 231112742 + Missense_Mutation SNP A A T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 2 231112742 231112742 A T SNP SP140 ENST00000392045 human ensembl 74_37 +1 known missense c.854 p.K285M 0.012 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain - no_errors SP140 HGNC ENSG00000079263 137 0 0 83 16 16.1616 CCDC121 0 genome.wustl.edu 37 2 27850634 27850634 + Silent SNP A A G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 2 27850634 27850634 A G SNP CCDC121 ENST00000394775 human ensembl 74_37 -1 known silent c.519 p.A173 0.000 NULL NULL - no_errors CCDC121 HGNC ENSG00000176714 311 0 0 127 26 16.9935 XDH 0 genome.wustl.edu 37 2 31625920 31625920 + Missense_Mutation SNP T T C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 2 31625920 31625920 T C SNP XDH ENST00000379416 human ensembl 74_37 -1 known missense c.191 p.K64R 0.608 pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu - no_errors XDH HGNC ENSG00000158125 139 0 0 83 37 30.8333 SRD5A2 0 genome.wustl.edu 37 2 31805911 31805911 + RNA SNP A A C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 2 31805911 31805911 A C SNP SRD5A2 ENST00000233139 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors SRD5A2 HGNC ENSG00000049319 78 0 0 35 14 28.5714 NDUFAF7 0 genome.wustl.edu 37 2 37473231 37473231 + Missense_Mutation SNP G G A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 2 37473231 37473231 G A SNP NDUFAF7 ENST00000002125 human ensembl 74_37 +1 known missense c.829 p.D277N 1.000 pfam_MidA pfam_MidA - no_errors NDUFAF7 HGNC ENSG00000003509 75 0 0 21 6 22.2222 VWA3B 0 genome.wustl.edu 37 2 98809371 98809371 + Missense_Mutation SNP C C G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 2 98809371 98809371 C G SNP VWA3B ENST00000477737 human ensembl 74_37 +1 known missense c.1477 p.L493V 1.000 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3B HGNC ENSG00000168658 135 0 0 59 19 24.359 BTBD3 0 genome.wustl.edu 37 20 11904024 11904024 + Nonsense_Mutation SNP G G T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 20 11904024 11904024 G T SNP BTBD3 ENST00000378226 human ensembl 74_37 +1 known nonsense c.1279 p.E427* 1.000 pfam_PHR pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD3 HGNC ENSG00000132640 147 0 0 124 12 8.82353 SCP2D1 0 genome.wustl.edu 37 20 18794654 18794654 + Missense_Mutation SNP A A C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 20 18794654 18794654 A C SNP SCP2D1 ENST00000377428 human ensembl 74_37 +1 known missense c.195 p.K65N 1.000 pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom - no_errors SCP2D1 HGNC ENSG00000132631 110 1 0.900901 104 18 14.7541 MYLK2 0 genome.wustl.edu 37 20 30414609 30414609 + Silent SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 20 30414609 30414609 C T SNP MYLK2 ENST00000375985 human ensembl 74_37 +1 known silent c.1092 p.G364 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MYLK2 HGNC ENSG00000101306 44 0 0 63 4 5.97015 ZNF341 0 genome.wustl.edu 37 20 32378892 32378892 + Missense_Mutation SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 20 32378892 32378892 C T SNP ZNF341 ENST00000375200 human ensembl 74_37 +1 known missense c.2134 p.R712C 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF341 HGNC ENSG00000131061 89 0 0 94 15 13.7615 TTI1 0 genome.wustl.edu 37 20 36625324 36625324 + Missense_Mutation SNP T T C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 20 36625324 36625324 T C SNP TTI1 ENST00000373447 human ensembl 74_37 -1 known missense c.2825 p.D942G 1.000 superfamily_ARM-type_fold,pirsf_UCP005250 superfamily_ARM-type_fold,pirsf_UCP005250 - no_errors TTI1 HGNC ENSG00000101407 151 0 0 137 71 34.1346 KIAA1755 0 genome.wustl.edu 37 20 36870174 36870174 + Missense_Mutation SNP A A G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 20 36870174 36870174 A G SNP KIAA1755 ENST00000279024 human ensembl 74_37 -1 known missense c.359 p.M120T 0.900 NULL superfamily_CRAL-TRIO_dom - no_errors KIAA1755 HGNC ENSG00000149633 185 0 0 207 45 17.8571 TRIB3 0 genome.wustl.edu 37 20 372101 372101 + Silent SNP C C A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 20 372101 372101 C A SNP TRIB3 ENST00000422053 human ensembl 74_37 +1 known silent c.543 p.I181 0.049 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors TRIB3 HGNC ENSG00000101255 48 0 0 92 8 8 CHD6 0 genome.wustl.edu 37 20 40143545 40143545 + Silent SNP T T G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 20 40143545 40143545 T G SNP CHD6 ENST00000373233 human ensembl 74_37 -1 known silent c.601 p.R201 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 103 0 0 93 20 17.6991 SEMG1 0 genome.wustl.edu 37 20 43836128 43836128 + Missense_Mutation SNP T T C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 20 43836128 43836128 T C SNP SEMG1 ENST00000372781 human ensembl 74_37 +1 known missense c.190 p.S64P 0.000 pfam_Semenogelin pfam_Semenogelin - no_errors SEMG1 HGNC ENSG00000124233 202 0 0 170 11 6.07735 NFATC2 0 genome.wustl.edu 37 20 50140514 50140514 + Missense_Mutation SNP G G A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 20 50140514 50140514 G A SNP NFATC2 ENST00000396009 human ensembl 74_37 -1 known missense c.266 p.P89L 0.999 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC2 HGNC ENSG00000101096 161 0 0 139 35 20.1149 TAF4 0 genome.wustl.edu 37 20 60575623 60575623 + Missense_Mutation SNP T T C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 20 60575623 60575623 T C SNP TAF4 ENST00000252996 human ensembl 74_37 -1 known missense c.2641 p.R881G 0.993 pfam_TAF4,superfamily_Histone-fold pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4 HGNC ENSG00000130699 159 0 0 91 48 34.5324 UMODL1 0 genome.wustl.edu 37 21 43557706 43557706 + Silent SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 21 43557706 43557706 C T SNP UMODL1 ENST00000408989 human ensembl 74_37 +1 known silent c.4317 p.F1439 0.979 NULL pfam_ZP_dom,pfam_SEA_dom,pfam_EGF-like_Ca-bd_dom,pfam_EMI_domain,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_EGF-like_Ca-bd_dom,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom - no_errors UMODL1 HGNC ENSG00000177398 151 0 0 85 24 22.0183 DIP2A 0 genome.wustl.edu 37 21 47931405 47931405 + Missense_Mutation SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 21 47931405 47931405 C T SNP DIP2A ENST00000318711 human ensembl 74_37 +1 known missense c.983 p.A328V 0.045 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2A HGNC ENSG00000160305 34 0 0 33 13 28.2609 CCT8L2 0 genome.wustl.edu 37 22 17072063 17072063 + Missense_Mutation SNP C C G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 22 17072063 17072063 C G SNP CCT8L2 ENST00000359963 human ensembl 74_37 -1 known missense c.1378 p.V460L 0.002 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1 - no_errors CCT8L2 HGNC ENSG00000198445 228 0 0 88 40 31.25 CECR1 0 genome.wustl.edu 37 22 17662401 17662401 + Missense_Mutation SNP T T A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 22 17662401 17662401 T A SNP CECR1 ENST00000262607 human ensembl 74_37 -1 known missense c.1508 p.K503M 0.935 tigrfam_Ad_deam-like pfam_A/AMP_deaminase_dom,pfam_A_deaminase_N,tigrfam_Ad_deam-like - no_errors CECR1 HGNC ENSG00000093072 526 0 0 92 145 61.1814 SPECC1L 0 genome.wustl.edu 37 22 24726243 24726243 + Missense_Mutation SNP G G T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 22 24726243 24726243 G T SNP SPECC1L ENST00000314328 human ensembl 74_37 +1 known missense c.2240 p.R747L 1.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_bHLH_dom,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1L HGNC ENSG00000100014 343 1 0.290698 202 59 22.6054 CSF2RB 0 genome.wustl.edu 37 22 37334080 37334080 + Missense_Mutation SNP T T G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 22 37334080 37334080 T G SNP CSF2RB ENST00000262825 human ensembl 74_37 +1 known missense c.2248 p.L750V 0.000 pirsf_IL3_rcpt_beta pirsf_IL3_rcpt_beta,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF2RB HGNC ENSG00000100368 116 0 0 81 21 20.5882 GPR156 0 genome.wustl.edu 37 3 119887179 119887179 + Missense_Mutation SNP T T G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 3 119887179 119887179 T G SNP GPR156 ENST00000315843 human ensembl 74_37 -1 known missense c.1145 p.K382T 1.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B - no_errors GPR156 HGNC ENSG00000175697 135 0 0 51 42 45.1613 TOPBP1 0 genome.wustl.edu 37 3 133341985 133341985 + Missense_Mutation SNP T T C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 3 133341985 133341985 T C SNP TOPBP1 ENST00000260810 human ensembl 74_37 -1 known missense c.3128 p.N1043S 0.001 NULL pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TOPBP1 HGNC ENSG00000163781 68 0 0 30 5 14.2857 CPB1 0 genome.wustl.edu 37 3 148575294 148575294 + Silent SNP C C G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 3 148575294 148575294 C G SNP CPB1 ENST00000282957 human ensembl 74_37 +1 known silent c.1032 p.T344 0.932 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPB1 HGNC ENSG00000153002 97 0 0 111 10 8.26446 HLTF 0 genome.wustl.edu 37 3 148763879 148763879 + Missense_Mutation SNP G G C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 3 148763879 148763879 G C SNP HLTF ENST00000310053 human ensembl 74_37 -1 known missense c.2060 p.A687G 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_HIP116_Rad5p_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HIP116_Rad5p_N,smart_Helicase_ATP-bd,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HLTF HGNC ENSG00000071794 48 0 0 52 36 40.9091 CP 0 genome.wustl.edu 37 3 148917637 148917637 + Missense_Mutation SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 3 148917637 148917637 C T SNP CP ENST00000264613 human ensembl 74_37 -1 known missense c.1363 p.A455T 1.000 superfamily_Cupredoxin pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin - no_errors CP HGNC ENSG00000047457 98 0 0 150 12 7.40741 C3orf33 0 genome.wustl.edu 37 3 155485298 155485298 + Silent SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 3 155485298 155485298 C T SNP C3orf33 ENST00000340171 human ensembl 74_37 -1 known silent c.483 p.K161 0.998 superfamily_Staphylococal_nuclease_OB-fold superfamily_Staphylococal_nuclease_OB-fold - no_errors C3orf33 HGNC ENSG00000174928 25 0 0 26 3 10.3448 MYNN 0 genome.wustl.edu 37 3 169496663 169496663 + Missense_Mutation SNP C C A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 3 169496663 169496663 C A SNP MYNN ENST00000349841 human ensembl 74_37 +1 known missense c.374 p.S125Y 1.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors MYNN HGNC ENSG00000085274 112 0 0 123 16 11.5108 GPR160 0 genome.wustl.edu 37 3 169802121 169802121 + Missense_Mutation SNP T T A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 3 169802121 169802121 T A SNP GPR160 ENST00000355897 human ensembl 74_37 +1 known missense c.361 p.C121S 0.829 pfscan_GPCR_Rhodpsn_7TM pfscan_GPCR_Rhodpsn_7TM - no_errors GPR160 HGNC ENSG00000173890 50 0 0 44 6 12 GPR160 0 genome.wustl.edu 37 3 169802572 169802572 + Missense_Mutation SNP C C A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 3 169802572 169802572 C A SNP GPR160 ENST00000355897 human ensembl 74_37 +1 known missense c.812 p.A271E 0.860 pfscan_GPCR_Rhodpsn_7TM pfscan_GPCR_Rhodpsn_7TM - no_errors GPR160 HGNC ENSG00000173890 150 0 0 103 19 15.5738 EFHB 0 genome.wustl.edu 37 3 19974904 19974904 + Missense_Mutation SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 3 19974904 19974904 C T SNP EFHB ENST00000295824 human ensembl 74_37 -1 known missense c.607 p.D203N 0.000 NULL pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFHB HGNC ENSG00000163576 135 0 0 78 29 27.1028 WDR6 0 genome.wustl.edu 37 3 49050374 49050374 + Silent SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 3 49050374 49050374 C T SNP WDR6 ENST00000395474 human ensembl 74_37 +1 known silent c.1497 p.A499 0.000 superfamily_Quino_amine_DH_bsu pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR6 HGNC ENSG00000178252 70 0 0 47 16 25.3968 QARS 0 genome.wustl.edu 37 3 49138789 49138789 + Missense_Mutation SNP T T G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 3 49138789 49138789 T G SNP QARS ENST00000306125 human ensembl 74_37 -1 known missense c.875 p.K292T 1.000 pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,prints_Glu/Gln-tRNA-synth,tigrfam_Gln-tRNA-synth pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_Gln-tRNA-synth_Ib_RNA-bd_N,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_Gln-tRNA-synth_Ib_RNA-bd_2,superfamily_Ribosomal_L25/Gln-tRNA_synth,prints_Glu/Gln-tRNA-synth,tigrfam_Gln-tRNA-synth - no_errors QARS HGNC ENSG00000172053 91 0 0 63 25 28.4091 TCTA 0 genome.wustl.edu 37 3 49450044 49450044 + Missense_Mutation SNP A A C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 3 49450044 49450044 A C SNP TCTA ENST00000273590 human ensembl 74_37 +1 known missense c.185 p.N62T 1.000 pirsf_TCTA pirsf_TCTA - no_errors TCTA HGNC ENSG00000145022 221 0 0 306 132 30.137 BSN 0 genome.wustl.edu 37 3 49680221 49680221 + Missense_Mutation SNP A A C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 3 49680221 49680221 A C SNP BSN ENST00000296452 human ensembl 74_37 +1 known missense c.1154 p.K385T 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 116 0 0 171 22 11.399 GNAI2 0 genome.wustl.edu 37 3 50289850 50289850 + Missense_Mutation SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 3 50289850 50289850 C T SNP GNAI2 ENST00000446079 human ensembl 74_37 +1 known missense c.259 p.L87F 1.000 NULL NULL - no_errors GNAI2 HGNC ENSG00000114353 112 0 0 59 45 43.2692 MTMR14 0 genome.wustl.edu 37 3 9711163 9711163 + Missense_Mutation SNP G G C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 3 9711163 9711163 G C SNP MTMR14 ENST00000296003 human ensembl 74_37 +1 known missense c.541 p.D181H 1.000 NULL NULL - no_errors MTMR14 HGNC ENSG00000163719 98 0 0 83 13 13.5417 JAGN1 0 genome.wustl.edu 37 3 9934635 9934635 + Nonsense_Mutation SNP C C G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 3 9934635 9934635 C G SNP JAGN1 ENST00000307768 human ensembl 74_37 +1 known nonsense c.126 p.Y42* 1.000 pfam_Jagunal pfam_Jagunal - no_errors JAGN1 HGNC ENSG00000171135 85 0 0 64 23 26.4368 ADH1A 0 genome.wustl.edu 37 4 100205900 100205900 + Missense_Mutation SNP G G A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 4 100205900 100205900 G A SNP ADH1A ENST00000209668 human ensembl 74_37 -1 known missense c.320 p.P107L 0.994 pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER - no_errors ADH1A HGNC ENSG00000187758 98 0 0 53 9 14.5161 CENPE 0 genome.wustl.edu 37 4 104065688 104065688 + Missense_Mutation SNP A A T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 4 104065688 104065688 A T SNP CENPE ENST00000265148 human ensembl 74_37 -1 known missense c.4945 p.L1649M 0.009 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 86 0 0 34 11 24.4444 ANK2 0 genome.wustl.edu 37 4 114161712 114161712 + Silent SNP G G A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 4 114161712 114161712 G A SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known silent c.765 p.R255 0.985 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 146 0 0 107 22 17.0543 SYNPO2 0 genome.wustl.edu 37 4 119947892 119947892 + Missense_Mutation SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 4 119947892 119947892 C T SNP SYNPO2 ENST00000307142 human ensembl 74_37 +1 known missense c.368 p.A123V 0.701 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2 HGNC ENSG00000172403 140 0 0 56 51 47.6636 PCDH10 0 genome.wustl.edu 37 4 134072302 134072302 + Missense_Mutation SNP A A T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 4 134072302 134072302 A T SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.1007 p.N336I 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 222 0 0 157 34 17.801 ADAM29 0 genome.wustl.edu 37 4 175897095 175897095 + Missense_Mutation SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 4 175897095 175897095 C T SNP ADAM29 ENST00000359240 human ensembl 74_37 +1 known missense c.419 p.A140V 0.000 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM29 HGNC ENSG00000168594 145 0 0 28 29 50.8772 PDE6B 0 genome.wustl.edu 37 4 654272 654272 + Missense_Mutation SNP G G A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 4 654272 654272 G A SNP PDE6B ENST00000496514 human ensembl 74_37 +1 known missense c.1484 p.G495E 0.491 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6B HGNC ENSG00000133256 74 0 0 34 27 44.2623 AFF1 0 genome.wustl.edu 37 4 88055782 88055782 + Silent SNP A A G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 4 88055782 88055782 A G SNP AFF1 ENST00000395146 human ensembl 74_37 +1 known silent c.3471 p.T1157 0.907 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF1 HGNC ENSG00000172493 290 0 0 240 71 22.8296 IBSP 0 genome.wustl.edu 37 4 88731868 88731868 + Silent SNP G G A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 4 88731868 88731868 G A SNP IBSP ENST00000226284 human ensembl 74_37 +1 known silent c.357 p.T119 0.001 pfam_BSP_II pfam_BSP_II - no_errors IBSP HGNC ENSG00000029559 202 0 0 129 39 23.2143 GRID2 0 genome.wustl.edu 37 4 94006175 94006175 + Missense_Mutation SNP G G A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 4 94006175 94006175 G A SNP GRID2 ENST00000282020 human ensembl 74_37 +1 known missense c.274 p.A92T 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID2 HGNC ENSG00000152208 88 0 0 76 4 5 DCP2 0 genome.wustl.edu 37 5 112327904 112327904 + Missense_Mutation SNP C C A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 5 112327904 112327904 C A SNP DCP2 ENST00000389063 human ensembl 74_37 +1 known missense c.292 p.P98T 1.000 superfamily_NUDIX_hydrolase_dom-like pfam_mRNA_decapping_BoxA,pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors DCP2 HGNC ENSG00000172795 197 0 0 56 42 42.8571 FEM1C 0 genome.wustl.edu 37 5 114878977 114878977 + Missense_Mutation SNP C C A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 5 114878977 114878977 C A SNP FEM1C ENST00000274457 human ensembl 74_37 -1 known missense c.214 p.G72C 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors FEM1C HGNC ENSG00000145780 61 0 0 55 11 16.6667 DNAH5 0 genome.wustl.edu 37 5 13735305 13735305 + Missense_Mutation SNP A A C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 5 13735305 13735305 A C SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.11696 p.L3899R 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 115 0 0 123 16 11.5108 PCDHA3 0 genome.wustl.edu 37 5 140182103 140182103 + Missense_Mutation SNP G G A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 5 140182103 140182103 G A SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known missense c.1321 p.V441M 0.956 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 276 0 0 245 71 22.4684 PCDHB1 0 genome.wustl.edu 37 5 140432258 140432258 + Silent SNP T T G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 5 140432258 140432258 T G SNP PCDHB1 ENST00000306549 human ensembl 74_37 +1 known silent c.1203 p.S401 0.129 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB1 HGNC ENSG00000171815 156 0 0 103 28 21.374 PCDHGB6 0 genome.wustl.edu 37 5 140788957 140788957 + Silent SNP T T G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 5 140788957 140788957 T G SNP PCDHGB6 ENST00000520790 human ensembl 74_37 +1 known silent c.1188 p.S396 0.576 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB6 HGNC ENSG00000253305 82 0 0 64 22 25.5814 PCDHGA12 0 genome.wustl.edu 37 5 140812194 140812194 + Missense_Mutation SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 5 140812194 140812194 C T SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known missense c.1868 p.T623M 0.840 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 170 0 0 109 78 41.7112 TRIO 0 genome.wustl.edu 37 5 14359545 14359545 + Missense_Mutation SNP G G A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 5 14359545 14359545 G A SNP TRIO ENST00000344204 human ensembl 74_37 +1 known missense c.2296 p.E766K 1.000 smart_Spectrin/alpha-actinin pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 124 0 0 214 23 9.70464 TENM2 0 genome.wustl.edu 37 5 167645910 167645910 + Missense_Mutation SNP A A T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 5 167645910 167645910 A T SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known missense c.5014 p.T1672S 0.994 superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 258 0 0 227 28 10.9804 SDHA 0 genome.wustl.edu 37 5 218486 218486 + Missense_Mutation SNP G G A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 5 218486 218486 G A SNP SDHA ENST00000264932 human ensembl 74_37 +1 known missense c.16 p.G6S 0.000 NULL pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Succ_DH/fumarate_Rdtase_cat,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg - no_errors SDHA HGNC ENSG00000073578 41 0 0 42 8 16 IRX2 0 genome.wustl.edu 37 5 2748519 2748519 + Missense_Mutation SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 5 2748519 2748519 C T SNP IRX2 ENST00000302057 human ensembl 74_37 -1 known missense c.1303 p.G435S 0.376 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX2 HGNC ENSG00000170561 18 0 0 2 3 60 UGT3A1 0 genome.wustl.edu 37 5 35957327 35957327 + Silent SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 5 35957327 35957327 C T SNP UGT3A1 ENST00000274278 human ensembl 74_37 -1 known silent c.1038 p.V346 0.995 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A1 HGNC ENSG00000145626 80 0 0 82 8 8.88889 PAIP1 0 genome.wustl.edu 37 5 43535034 43535034 + Missense_Mutation SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 5 43535034 43535034 C T SNP PAIP1 ENST00000306846 human ensembl 74_37 -1 known missense c.1118 p.R373Q 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,pfam_Ataxin-2_C,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors PAIP1 HGNC ENSG00000172239 121 0 0 109 13 10.6557 DDX4 0 genome.wustl.edu 37 5 55083777 55083777 + Missense_Mutation SNP C C A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 5 55083777 55083777 C A SNP DDX4 ENST00000505374 human ensembl 74_37 +1 known missense c.1121 p.T374N 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX4 HGNC ENSG00000152670 117 0 0 46 4 8 GPR98 0 genome.wustl.edu 37 5 89981640 89981640 + Silent SNP G G A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 5 89981640 89981640 G A SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known silent c.6318 p.A2106 0.815 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 71 0 0 15 8 34.7826 MAK 0 genome.wustl.edu 37 6 10775584 10775584 + Missense_Mutation SNP A A G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 6 10775584 10775584 A G SNP MAK ENST00000313243 human ensembl 74_37 -1 known missense c.1574 p.L525P 0.136 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAK HGNC ENSG00000111837 397 0 0 210 67 24.1877 TPD52L1 0 genome.wustl.edu 37 6 125584086 125584086 + Missense_Mutation SNP A A C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 6 125584086 125584086 A C SNP TPD52L1 ENST00000534000 human ensembl 74_37 +1 known missense c.593 p.K198T 0.021 NULL pfam_TPD52 - no_errors TPD52L1 HGNC ENSG00000111907 59 0 0 49 4 7.54717 HIVEP2 0 genome.wustl.edu 37 6 143095786 143095786 + Silent SNP T T C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 6 143095786 143095786 T C SNP HIVEP2 ENST00000012134 human ensembl 74_37 -1 known silent c.90 p.Q30 0.977 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 321 0 0 171 99 36.6667 SLC17A4 0 genome.wustl.edu 37 6 25777168 25777168 + Missense_Mutation SNP T T G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 6 25777168 25777168 T G SNP SLC17A4 ENST00000377905 human ensembl 74_37 +1 known missense c.1249 p.F417V 0.992 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A4 HGNC ENSG00000146039 158 0 0 107 26 19.5489 HIST1H4G 0 genome.wustl.edu 37 6 26247001 26247001 + Missense_Mutation SNP A A G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 6 26247001 26247001 A G SNP HIST1H4G ENST00000244537 human ensembl 74_37 -1 known missense c.205 p.Y69H 0.998 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,prints_Histone_H4 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,prints_Histone_H4 - no_errors HIST1H4G HGNC ENSG00000124578 85 0 0 50 18 26.4706 ZNF184 0 genome.wustl.edu 37 6 27419677 27419677 + Missense_Mutation SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 6 27419677 27419677 C T SNP ZNF184 ENST00000211936 human ensembl 74_37 -1 known missense c.1661 p.G554E 0.999 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF184 HGNC ENSG00000096654 97 0 0 48 7 12.7273 OR5V1 0 genome.wustl.edu 37 6 29323204 29323204 + Missense_Mutation SNP A A C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 6 29323204 29323204 A C SNP OR5V1 ENST00000377154 human ensembl 74_37 -1 known missense c.769 p.F257V 0.005 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5V1 HGNC ENSG00000243729 178 0 0 92 32 25.8065 PKHD1 0 genome.wustl.edu 37 6 51524277 51524277 + Silent SNP T T C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 6 51524277 51524277 T C SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known silent c.10647 p.G3549 0.998 NULL pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 98 0 0 43 14 24.5614 DST 0 genome.wustl.edu 37 6 56362252 56362252 + Silent SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 6 56362252 56362252 C T SNP DST ENST00000370754 human ensembl 74_37 -1 known silent c.20055 p.T6685 0.049 pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 83 0 0 32 32 50 BAI3 0 genome.wustl.edu 37 6 70064133 70064133 + Missense_Mutation SNP T T A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 6 70064133 70064133 T A SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.3468 p.D1156E 1.000 NULL 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_CUB_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 BAI3 HGNC ENSG00000135298 188 0 0 113 9 7.37705 RIMS1 0 genome.wustl.edu 37 6 73108716 73108716 + Missense_Mutation SNP A A G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 6 73108716 73108716 A G SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.4780 p.R1594G 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 104 0 0 43 23 34.8485 MUC17 0 genome.wustl.edu 37 7 100682331 100682331 + Missense_Mutation SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 7 100682331 100682331 C T SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.7634 p.P2545L 0.005 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 695 0 0 306 268 46.6899 ORAI2 0 genome.wustl.edu 37 7 102079535 102079535 + Silent SNP G G A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 7 102079535 102079535 G A SNP ORAI2 ENST00000356387 human ensembl 74_37 +1 known silent c.132 p.S44 0.000 pfam_CRAC_channel pfam_CRAC_channel - no_errors ORAI2 HGNC ENSG00000160991 170 0 0 128 32 20 SRPK2 0 genome.wustl.edu 37 7 104782887 104782887 + Missense_Mutation SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 7 104782887 104782887 C T SNP SRPK2 ENST00000393651 human ensembl 74_37 -1 known missense c.1111 p.E371K 0.999 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors SRPK2 HGNC ENSG00000135250 142 0 0 76 17 18.2796 PNPLA8 0 genome.wustl.edu 37 7 108119793 108119793 + Missense_Mutation SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 7 108119793 108119793 C T SNP PNPLA8 ENST00000257694 human ensembl 74_37 -1 known missense c.1909 p.A637T 1.000 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_ARM-type_fold - no_errors PNPLA8 HGNC ENSG00000135241 106 0 0 25 30 54.5455 NME8 0 genome.wustl.edu 37 7 37890031 37890031 + Silent SNP T T C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 7 37890031 37890031 T C SNP NME8 ENST00000199447 human ensembl 74_37 +1 known silent c.85 p.L29 0.887 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase - no_errors NME8 HGNC ENSG00000086288 203 0 0 108 46 29.8701 INHBA 0 genome.wustl.edu 37 7 41729891 41729891 + Missense_Mutation SNP G G A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 7 41729891 41729891 G A SNP INHBA ENST00000242208 human ensembl 74_37 -1 known missense c.638 p.A213V 0.997 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu - no_errors INHBA HGNC ENSG00000122641 79 0 0 30 40 57.1429 GTF2IRD1 0 genome.wustl.edu 37 7 73927245 73927245 + Missense_Mutation SNP G G A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 7 73927245 73927245 G A SNP GTF2IRD1 ENST00000265755 human ensembl 74_37 +1 known missense c.209 p.G70E 0.999 pirsf_TF_II-I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I - no_errors GTF2IRD1 HGNC ENSG00000006704 113 0 0 130 29 18.239 CDK14 0 genome.wustl.edu 37 7 90613530 90613530 + Missense_Mutation SNP C C G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 7 90613530 90613530 C G SNP CDK14 ENST00000380050 human ensembl 74_37 +1 known missense c.1015 p.Q339E 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK14 HGNC ENSG00000058091 168 1 0.591716 55 13 19.1176 PON3 0 genome.wustl.edu 37 7 94989405 94989405 + Missense_Mutation SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 7 94989405 94989405 C T SNP PON3 ENST00000427422 human ensembl 74_37 -1 putative missense c.734 p.G245E 0.004 NULL pfam_Arylesterase,prints_Arylesterase - no_errors PON3 HGNC ENSG00000105852 156 0 0 82 27 24.7706 TRRAP 0 genome.wustl.edu 37 7 98491433 98491433 + Missense_Mutation SNP G G A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 7 98491433 98491433 G A SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.379 p.E127K 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 107 0 0 50 6 10.7143 RIMS2 0 genome.wustl.edu 37 8 104934010 104934010 + Missense_Mutation SNP T T G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 8 104934010 104934010 T G SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.2194 p.S732A 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 80 0 0 30 10 25 CSGALNACT1 0 genome.wustl.edu 37 8 19362710 19362710 + Splice_Site SNP A A G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 8 19362710 19362710 A G SNP CSGALNACT1 ENST00000311540 human ensembl 74_37 -1 known splice_site c.634+2 e1+2 0.997 - - - no_errors CSGALNACT1 HGNC ENSG00000147408 122 0 0 46 29 38.6667 CHRNA2 0 genome.wustl.edu 37 8 27319266 27319266 + Silent SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 8 27319266 27319266 C T SNP CHRNA2 ENST00000407991 human ensembl 74_37 -1 known silent c.1470 p.K490 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA2 HGNC ENSG00000120903 240 0 0 170 52 23.4234 TEX15 0 genome.wustl.edu 37 8 30700514 30700514 + Missense_Mutation SNP A A G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 8 30700514 30700514 A G SNP TEX15 ENST00000256246 human ensembl 74_37 -1 known missense c.6020 p.L2007P 0.885 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 70 0 0 20 12 37.5 UNC5D 0 genome.wustl.edu 37 8 35631942 35631942 + Silent SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 8 35631942 35631942 C T SNP UNC5D ENST00000404895 human ensembl 74_37 +1 known silent c.2604 p.P868 1.000 pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5D HGNC ENSG00000156687 99 0 0 50 11 18.0328 PRKDC 0 genome.wustl.edu 37 8 48815352 48815352 + Missense_Mutation SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 8 48815352 48815352 C T SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known missense c.3046 p.G1016R 1.000 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 61 0 0 12 10 45.4545 AGPAT5 0 genome.wustl.edu 37 8 6599219 6599219 + Missense_Mutation SNP A A G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 8 6599219 6599219 A G SNP AGPAT5 ENST00000285518 human ensembl 74_37 +1 known missense c.533 p.N178S 1.000 pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT5 HGNC ENSG00000155189 231 0 0 89 33 27.0492 OR13C4 0 genome.wustl.edu 37 9 107288534 107288534 + Silent SNP T T C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 9 107288534 107288534 T C SNP OR13C4 ENST00000277216 human ensembl 74_37 -1 known silent c.957 p.*319 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C4 HGNC ENSG00000148136 154 0 0 64 53 45.2991 COL5A1 0 genome.wustl.edu 37 9 137687112 137687112 + Missense_Mutation SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 9 137687112 137687112 C T SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known missense c.2750 p.P917L 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 182 0 0 108 49 31.2102 COL5A1 0 genome.wustl.edu 37 9 137704501 137704501 + Silent SNP T T G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 9 137704501 137704501 T G SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known silent c.3795 p.A1265 0.944 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 21 0 0 18 7 28 FCN2 0 genome.wustl.edu 37 9 137775149 137775149 + Silent SNP A A G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 9 137775149 137775149 A G SNP FCN2 ENST00000291744 human ensembl 74_37 +1 known silent c.216 p.G72 0.607 pfam_Collagen pfam_Fibrinogen_a/b/g_C_dom,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FCN2 HGNC ENSG00000160339 113 0 0 60 28 31.8182 EXD3 0 genome.wustl.edu 37 9 140242576 140242576 + Missense_Mutation SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 9 140242576 140242576 C T SNP EXD3 ENST00000340951 human ensembl 74_37 -1 known missense c.1945 p.G649S 0.974 pfam_Mut7-C_RNAse_dom pfam_Mut7-C_RNAse_dom,pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom - no_errors EXD3 HGNC ENSG00000187609 57 0 0 41 22 34.9206 FREM1 0 genome.wustl.edu 37 9 14747262 14747262 + Missense_Mutation SNP C C A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 9 14747262 14747262 C A SNP FREM1 ENST00000380881 human ensembl 74_37 -1 known missense c.6012 p.Q2004H 1.000 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 268 0 0 105 43 29.0541 SLC24A2 0 genome.wustl.edu 37 9 19786705 19786705 + Missense_Mutation SNP A A C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 9 19786705 19786705 A C SNP SLC24A2 ENST00000341998 human ensembl 74_37 -1 known missense c.160 p.F54V 0.919 NULL pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A2 HGNC ENSG00000155886 172 0 0 97 7 6.73077 AQP7 0 genome.wustl.edu 37 9 33386446 33386446 + Missense_Mutation SNP A A G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 9 33386446 33386446 A G SNP AQP7 ENST00000297988 human ensembl 74_37 -1 known missense c.362 p.L121P 1.000 pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_3,tigrfam_MIP - no_errors AQP7 HGNC ENSG00000165269 36 0 0 19 6 24 C9orf131 0 genome.wustl.edu 37 9 35043516 35043516 + Missense_Mutation SNP G G C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 9 35043516 35043516 G C SNP C9orf131 ENST00000312292 human ensembl 74_37 +1 known missense c.890 p.G297A 0.000 NULL NULL - no_errors C9orf131 HGNC ENSG00000174038 250 0 0 109 59 35.119 GDA 0 genome.wustl.edu 37 9 74840638 74840638 + Silent SNP T T C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 9 74840638 74840638 T C SNP GDA ENST00000238018 human ensembl 74_37 +1 known silent c.760 p.L254 0.008 pfam_Amidohydro_1,tigrfam_Guanine_deaminase pfam_Amidohydro_1,tigrfam_Guanine_deaminase - no_errors GDA HGNC ENSG00000119125 216 0 0 467 32 6.41283 TSC22D3 0 genome.wustl.edu 37 X 106957906 106957906 + Missense_Mutation SNP A A T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 X 106957906 106957906 A T SNP TSC22D3 ENST00000315660 human ensembl 74_37 -1 known missense c.446 p.L149Q 1.000 pfam_TSC-22_Dip_Bun pfam_TSC-22_Dip_Bun - no_errors TSC22D3 HGNC ENSG00000157514 393 0 0 78 162 67.5 RAB9A 0 genome.wustl.edu 37 X 13726919 13726919 + Silent SNP T T G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 X 13726919 13726919 T G SNP RAB9A ENST00000464506 human ensembl 74_37 +1 known silent c.54 p.V18 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_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,superfamily_P-loop_NTPase,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 RAB9A HGNC ENSG00000123595 256 0 0 115 36 23.8411 GPR50 0 genome.wustl.edu 37 X 150349066 150349066 + Silent SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 X 150349066 150349066 C T SNP GPR50 ENST00000218316 human ensembl 74_37 +1 known silent c.1011 p.R337 0.026 prints_Mel_rcpt_1X pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mel_rcpt_1X,prints_GPCR_Rhodpsn,prints_Melatonin_rcpt,prints_NPY_rcpt - no_errors GPR50 HGNC ENSG00000102195 296 0 0 71 121 63.0208 ARSD 0 genome.wustl.edu 37 X 2825510 2825510 + Silent SNP G G T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 X 2825510 2825510 G T SNP ARSD ENST00000381154 human ensembl 74_37 -1 known silent c.1584 p.P528 0.326 superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSD HGNC ENSG00000006756 38 0 0 11 25 69.4444 IL1RAPL1 0 genome.wustl.edu 37 X 29414374 29414374 + Splice_Site SNP G G A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 X 29414374 29414374 G A SNP IL1RAPL1 ENST00000302196 human ensembl 74_37 +1 known splice_site c.363-1 e3-1 1.000 - - - no_errors IL1RAPL1 HGNC ENSG00000169306 56 0 0 20 5 20 TAB3 0 genome.wustl.edu 37 X 30870904 30870904 + Silent SNP C C T TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 X 30870904 30870904 C T SNP TAB3 ENST00000288422 human ensembl 74_37 -1 known silent c.1701 p.A567 0.001 NULL pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB3 HGNC ENSG00000157625 106 0 0 25 37 59.6774 WDR45 0 genome.wustl.edu 37 X 48934166 48934166 + Missense_Mutation SNP T T C TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 X 48934166 48934166 T C SNP WDR45 ENST00000322995 human ensembl 74_37 -1 known missense c.359 p.K120R 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR45 HGNC ENSG00000196998 274 0 0 124 50 28.7356 CCNB3 0 genome.wustl.edu 37 X 50090653 50090653 + Missense_Mutation SNP C C A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 X 50090653 50090653 C A SNP CCNB3 ENST00000276014 human ensembl 74_37 +1 known missense c.3839 p.T1280N 1.000 pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC ENSG00000147082 114 0 0 60 20 25 P2RY10 0 genome.wustl.edu 37 X 78216599 78216599 + Silent SNP G G A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 X 78216599 78216599 G A SNP P2RY10 ENST00000171757 human ensembl 74_37 +1 known silent c.582 p.A194 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors P2RY10 HGNC ENSG00000078589 118 0 0 19 37 66.0714 NAP1L3 0 genome.wustl.edu 37 X 92927241 92927241 + Missense_Mutation SNP T T G TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 X 92927241 92927241 T G SNP NAP1L3 ENST00000373079 human ensembl 74_37 -1 known missense c.1063 p.S355R 0.271 pfam_NAP_family pfam_NAP_family - no_errors NAP1L3 HGNC ENSG00000186310 124 0 0 30 27 47.3684 MUC5B 0 genome.wustl.edu 37 11 1265770 1265771 + Frame_Shift_Ins INS - - A TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 11 1265770 1265771 - A INS MUC5B ENST00000447027 human ensembl 74_37 +1 known frame_shift_ins c.7669_7670 p.T2558fs 0.041:0.030 NULL pfam_VWF_type-D,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_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 630 0 0 572 64 10.0629 MED1 0 genome.wustl.edu 37 17 37564657 37564659 + In_Frame_Del DEL AGG AGG - TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 17 37564657 37564659 AGG - DEL MED1 ENST00000300651 human ensembl 74_37 -1 known in_frame_del c.3817_3815 p.S1272in_frame_del 1.000:1.000:1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC ENSG00000125686 150 0 0 151 33 17.9348 MED1 0 genome.wustl.edu 37 17 37565976 37565976 + Frame_Shift_Del DEL T T - TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 17 37565976 37565976 T - DEL MED1 ENST00000300651 human ensembl 74_37 -1 known frame_shift_del c.2498 p.N833fs 1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC ENSG00000125686 135 0 0 135 47 25.8242 TP53 0 genome.wustl.edu 37 17 7578275 7578277 + In_Frame_Del DEL GAG GAG - TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 17 7578275 7578277 GAG - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known in_frame_del c.574_572 p.P191in_frame_del 0.998:0.977:0.998 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd 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 100 0 0 30 28 48.2759 GMPPB 0 genome.wustl.edu 37 3 49759702 49759719 + In_Frame_Del DEL GCCGCTCAGGCTGCTTCT GCCGCTCAGGCTGCTTCT - TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 GCCGCTCAGGCTGCTTCT GCCGCTCAGGCTGCTTCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 3 49759702 49759719 GCCGCTCAGGCTGCTTCT - DEL GMPPB ENST00000308375 human ensembl 74_37 -1 known in_frame_del c.730_713 p.QKQPER238in_frame_del 0.980:0.939:0.956:0.964:0.997:1.000:1.000:0.994:1.000:1.000:0.852:0.999:1.000:1.000:1.000:1.000:1.000:1.000 NULL pfam_NTP_transferase,pfam_Hexapep_transf - no_errors GMPPB HGNC ENSG00000173540 154 0 0 227 37 14.0152 PODXL 0 genome.wustl.edu 37 7 131241030 131241035 + In_Frame_Del DEL GGCGAC GGCGAC - TCGA-BR-8060-01A-11D-2340-08 TCGA-BR-8060-10A-01D-2340-08 GGCGAC GGCGAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 193578c4-5619-42bf-834d-a73723a5e7f3 6d72fc1f-d9ec-4c34-9357-a9f71f33b834 7 131241030 131241035 GGCGAC - DEL PODXL ENST00000541194 human ensembl 74_37 -1 known in_frame_del c.89_84 p.PS30in_frame_del 0.003:0.005:0.005:0.006:0.006:0.006 pirsf_Podocalyxin-like_p1 pfam_CD34/Podocalyxin,pirsf_Podocalyxin-like_p1 - no_errors PODXL HGNC ENSG00000128567 9 0 0 8 3 27.2727