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 FAM72D 0 genome.wustl.edu 37 1 143912284 143912284 + Missense_Mutation SNP G G C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 1 143912284 143912284 G C SNP FAM72D ENST00000400889 human ensembl 74_37 -1 known missense c.12 p.N4K 0.989 NULL NULL - no_errors FAM72D HGNC ENSG00000215784 349 0 0 293 27 8.4375 CA14 0 genome.wustl.edu 37 1 150233945 150233945 + Missense_Mutation SNP T T G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 1 150233945 150233945 T G SNP CA14 ENST00000369111 human ensembl 74_37 +1 known missense c.164 p.V55G 0.942 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA14 HGNC ENSG00000118298 49 0 0 103 15 12.7119 TMOD4 0 genome.wustl.edu 37 1 151143000 151143000 + Missense_Mutation SNP T T G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 1 151143000 151143000 T G SNP TMOD4 ENST00000295314 human ensembl 74_37 -1 known missense c.1010 p.E337A 1.000 NULL pfam_Tropomodulin - no_errors TMOD4 HGNC ENSG00000163157 144 0 0 295 19 6.05096 RPTN 0 genome.wustl.edu 37 1 152129286 152129286 + Silent SNP T T G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 1 152129286 152129286 T G SNP RPTN ENST00000316073 human ensembl 74_37 -1 known silent c.289 p.R97 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors RPTN HGNC ENSG00000215853 178 0 0 259 27 9.44056 LCE1B 0 genome.wustl.edu 37 1 152785235 152785235 + Missense_Mutation SNP T T A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 1 152785235 152785235 T A SNP LCE1B ENST00000360090 human ensembl 74_37 +1 known missense c.313 p.C105S 0.992 NULL NULL - no_errors LCE1B HGNC ENSG00000196734 68 0 0 92 33 26.4 AQP10 0 genome.wustl.edu 37 1 154295731 154295731 + Missense_Mutation SNP T T C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 1 154295731 154295731 T C SNP AQP10 ENST00000324978 human ensembl 74_37 +1 known missense c.385 p.Y129H 1.000 pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_10,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_10,prints_Aquaporin_3,tigrfam_MIP - no_errors AQP10 HGNC ENSG00000143595 121 0 0 136 36 20.9302 THBS3 0 genome.wustl.edu 37 1 155170258 155170258 + Silent SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 1 155170258 155170258 G A SNP THBS3 ENST00000368378 human ensembl 74_37 -1 known silent c.1692 p.N564 0.969 pfam_Thrombospondin_3-like_rpt pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors THBS3 HGNC ENSG00000169231 130 0 0 98 179 64.6209 IFI16 0 genome.wustl.edu 37 1 158986333 158986333 + Missense_Mutation SNP A A C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 1 158986333 158986333 A C SNP IFI16 ENST00000295809 human ensembl 74_37 +1 known missense c.392 p.K131T 0.000 NULL pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC ENSG00000163565 27 0 0 38 4 9.52381 OR10J3 0 genome.wustl.edu 37 1 159284068 159284068 + Missense_Mutation SNP A A G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 1 159284068 159284068 A G SNP OR10J3 ENST00000332217 human ensembl 74_37 -1 known missense c.382 p.C128R 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J3 HGNC ENSG00000196266 84 0 0 105 26 19.8473 ATP1B1 0 genome.wustl.edu 37 1 169100726 169100726 + Missense_Mutation SNP A A C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 1 169100726 169100726 A C SNP ATP1B1 ENST00000367815 human ensembl 74_37 +1 known missense c.845 p.N282T 1.000 pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta - no_errors ATP1B1 HGNC ENSG00000143153 90 0 0 97 25 20.4918 PAPPA2 0 genome.wustl.edu 37 1 176668266 176668266 + Missense_Mutation SNP C C G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 1 176668266 176668266 C G SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known missense c.2777 p.P926R 1.000 superfamily_Fibronectin_type3 pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 66 0 0 104 24 18.75 HMCN1 0 genome.wustl.edu 37 1 185966642 185966642 + Missense_Mutation SNP C C A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 1 185966642 185966642 C A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.3860 p.P1287Q 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 69 0 0 68 17 20 CYB5R1 0 genome.wustl.edu 37 1 202934388 202934388 + RNA SNP G G C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 1 202934388 202934388 G C SNP CYB5R1 ENST00000497655 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CYB5R1 HGNC ENSG00000159348 164 0 0 164 62 27.4336 PIK3C2B 0 genome.wustl.edu 37 1 204438205 204438205 + Silent SNP C C T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 1 204438205 204438205 C T SNP PIK3C2B ENST00000367187 human ensembl 74_37 -1 known silent c.726 p.S242 0.050 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2B HGNC ENSG00000133056 396 0 0 678 120 15.0376 EIF4G3 0 genome.wustl.edu 37 1 21143964 21143964 + Missense_Mutation SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 1 21143964 21143964 G A SNP EIF4G3 ENST00000374937 human ensembl 74_37 -1 known missense c.4286 p.A1429V 0.998 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G3 HGNC ENSG00000075151 69 0 0 39 10 20.4082 EPHA8 0 genome.wustl.edu 37 1 22913108 22913108 + Missense_Mutation SNP C C T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 1 22913108 22913108 C T SNP EPHA8 ENST00000166244 human ensembl 74_37 +1 known missense c.959 p.P320L 0.999 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Growth_fac_rcpt_N_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA8 HGNC ENSG00000070886 60 0 0 55 10 15.3846 RYR2 0 genome.wustl.edu 37 1 237580424 237580424 + Splice_Site SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 1 237580424 237580424 G A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known splice_site c.842+1 e12+1 1.000 - - - no_errors RYR2 HGNC ENSG00000198626 24 0 0 7 15 68.1818 OR2T2 0 genome.wustl.edu 37 1 248616764 248616764 + Silent SNP C C T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 1 248616764 248616764 C T SNP OR2T2 ENST00000342927 human ensembl 74_37 +1 known silent c.666 p.I222 0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T2 HGNC ENSG00000196240 46 0 0 25 4 13.7931 MECR 0 genome.wustl.edu 37 1 29527987 29527987 + RNA SNP T T A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 1 29527987 29527987 T A SNP MECR ENST00000453185 human ensembl 74_37 -1 known rna NULL NULL 0.010 - - - no_errors MECR HGNC ENSG00000116353 8 0 0 18 5 21.7391 S100PBP 0 genome.wustl.edu 37 1 33321539 33321539 + Missense_Mutation SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 1 33321539 33321539 G A SNP S100PBP ENST00000373475 human ensembl 74_37 +1 known missense c.1127 p.R376Q 1.000 NULL NULL - no_errors S100PBP HGNC ENSG00000116497 50 0 0 28 16 36.3636 CLDN19 0 genome.wustl.edu 37 1 43205530 43205530 + Missense_Mutation SNP A A C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 1 43205530 43205530 A C SNP CLDN19 ENST00000296387 human ensembl 74_37 -1 known missense c.205 p.S69A 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin - no_errors CLDN19 HGNC ENSG00000164007 17 0 0 25 3 10.7143 LRP8 0 genome.wustl.edu 37 1 53712697 53712697 + Missense_Mutation SNP A A G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 1 53712697 53712697 A G SNP LRP8 ENST00000306052 human ensembl 74_37 -1 known missense c.2885 p.L962P 1.000 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP8 HGNC ENSG00000157193 35 0 0 33 14 29.7872 ELTD1 0 genome.wustl.edu 37 1 79411968 79411968 + Missense_Mutation SNP C C T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 1 79411968 79411968 C T SNP ELTD1 ENST00000370742 human ensembl 74_37 -1 known missense c.316 p.V106I 0.560 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors ELTD1 HGNC ENSG00000162618 37 0 0 16 8 33.3333 DPYD 0 genome.wustl.edu 37 1 98186479 98186479 + Missense_Mutation SNP A A C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 1 98186479 98186479 A C SNP DPYD ENST00000306031 human ensembl 74_37 -1 known missense c.487 p.L163V 0.000 NULL superfamily_Helical_ferredxn - no_errors DPYD HGNC ENSG00000188641 38 0 0 14 8 36.3636 COX15 0 genome.wustl.edu 37 10 101476185 101476185 + Missense_Mutation SNP A A G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 10 101476185 101476185 A G SNP COX15 ENST00000016171 human ensembl 74_37 -1 known missense c.1021 p.Y341H 1.000 pfam_HemeA_syn pfam_HemeA_syn,superfamily_Trypsin-like_Pept_dom - no_errors COX15 HGNC ENSG00000014919 102 0 0 100 35 25.9259 SORCS1 0 genome.wustl.edu 37 10 108434807 108434807 + Missense_Mutation SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 10 108434807 108434807 G A SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known missense c.1940 p.T647I 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 75 0 0 57 22 27.8481 SHOC2 0 genome.wustl.edu 37 10 112769019 112769019 + Nonsense_Mutation SNP C C G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 10 112769019 112769019 C G SNP SHOC2 ENST00000369452 human ensembl 74_37 +1 known nonsense c.1298 p.S433* 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors SHOC2 HGNC ENSG00000108061 24 0 0 15 10 40 USP6NL 0 genome.wustl.edu 37 10 11505655 11505655 + Silent SNP C C T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 10 11505655 11505655 C T SNP USP6NL ENST00000379237 human ensembl 74_37 -1 known silent c.1341 p.T447 0.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors USP6NL HGNC ENSG00000148429 35 0 0 42 8 16 CUBN 0 genome.wustl.edu 37 10 16970303 16970303 + Splice_Site SNP C C A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 10 16970303 16970303 C A SNP CUBN ENST00000377833 human ensembl 74_37 -1 known splice_site c.6125-1 e41-1 1.000 - - - no_errors CUBN HGNC ENSG00000107611 41 0 0 48 16 25 ARMC4 0 genome.wustl.edu 37 10 28233225 28233225 + Missense_Mutation SNP C C T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 10 28233225 28233225 C T SNP ARMC4 ENST00000305242 human ensembl 74_37 -1 known missense c.1669 p.E557K 1.000 superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ENSG00000169126 36 0 0 51 5 8.92857 ANKRD30A 0 genome.wustl.edu 37 10 37508309 37508309 + Silent SNP C C T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 10 37508309 37508309 C T SNP ANKRD30A ENST00000361713 human ensembl 74_37 +1 known silent c.3501 p.F1167 0.296 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 73 0 0 37 26 41.2698 ANKRD30A 0 genome.wustl.edu 37 10 37508493 37508493 + Missense_Mutation SNP C C A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 10 37508493 37508493 C A SNP ANKRD30A ENST00000361713 human ensembl 74_37 +1 known missense c.3685 p.Q1229K 0.359 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 50 0 0 32 16 33.3333 A1CF 0 genome.wustl.edu 37 10 52588038 52588038 + Nonsense_Mutation SNP C C A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 10 52588038 52588038 C A SNP A1CF ENST00000282641 human ensembl 74_37 -1 known nonsense c.622 p.G208* 1.000 smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors A1CF HGNC ENSG00000148584 102 0 0 73 10 12.0482 PCDH15 0 genome.wustl.edu 37 10 55590915 55590915 + Missense_Mutation SNP T T C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 10 55590915 55590915 T C SNP PCDH15 ENST00000437009 human ensembl 74_37 -1 known missense c.3997 p.R1333G 0.003 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 41 0 0 37 10 21.2766 P4HA1 0 genome.wustl.edu 37 10 74804758 74804758 + Missense_Mutation SNP G G T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 10 74804758 74804758 G T SNP P4HA1 ENST00000307116 human ensembl 74_37 -1 known missense c.1129 p.H377N 1.000 smart_Pro_4_hyd_alph pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors P4HA1 HGNC ENSG00000122884 75 0 0 58 15 20.5479 NRG3 0 genome.wustl.edu 37 10 83635467 83635467 + Missense_Mutation SNP C C T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 10 83635467 83635467 C T SNP NRG3 ENST00000404547 human ensembl 74_37 +1 known missense c.371 p.A124V 0.999 NULL pfscan_EG-like_dom - no_errors NRG3 HGNC ENSG00000185737 32 0 0 30 7 18.9189 NRG3 0 genome.wustl.edu 37 10 84718767 84718767 + Missense_Mutation SNP T T C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 10 84718767 84718767 T C SNP NRG3 ENST00000404547 human ensembl 74_37 +1 known missense c.1220 p.L407P 1.000 NULL pfscan_EG-like_dom - no_errors NRG3 HGNC ENSG00000185737 46 0 0 54 10 15.625 MUC2 0 genome.wustl.edu 37 11 1093569 1093569 + Silent SNP A A C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 11 1093569 1093569 A C SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known silent c.5388 p.T1796 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,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 MUC2 HGNC ENSG00000198788 29 0 0 51 9 15 MICALCL 0 genome.wustl.edu 37 11 12316167 12316167 + Missense_Mutation SNP T T A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 11 12316167 12316167 T A SNP MICALCL ENST00000256186 human ensembl 74_37 +1 known missense c.1189 p.F397I 0.368 smart_ProQ/FinO pfam_DUF3585,smart_ProQ/FinO - no_errors MICALCL HGNC ENSG00000133808 176 0 0 95 22 18.8034 MUC5B 0 genome.wustl.edu 37 11 1253976 1253976 + Missense_Mutation SNP A A G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 11 1253976 1253976 A G SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.2050 p.S684G 0.000 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich 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 13 0 0 28 9 24.3243 OR4C46 0 genome.wustl.edu 37 11 51515532 51515532 + Missense_Mutation SNP T T C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 11 51515532 51515532 T C SNP OR4C46 ENST00000328188 human ensembl 74_37 +1 known missense c.251 p.L84P 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C46 HGNC ENSG00000185926 146 0 0 46 71 60.6838 OR4C15 0 genome.wustl.edu 37 11 55322128 55322128 + Silent SNP T T C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 11 55322128 55322128 T C SNP OR4C15 ENST00000314644 human ensembl 74_37 +1 known silent c.346 p.L116 0.023 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C15 HGNC ENSG00000181939 152 0 0 105 34 24.4604 UBQLNL 0 genome.wustl.edu 37 11 5536964 5536964 + Missense_Mutation SNP T T G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 11 5536964 5536964 T G SNP UBQLNL ENST00000380184 human ensembl 74_37 -1 putative missense c.708 p.Q236H 0.997 NULL pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors UBQLNL HGNC ENSG00000175518 153 0 0 91 43 32.0896 OR5D14 0 genome.wustl.edu 37 11 55563500 55563500 + Missense_Mutation SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 11 55563500 55563500 G A SNP OR5D14 ENST00000335605 human ensembl 74_37 +1 known missense c.469 p.G157S 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D14 HGNC ENSG00000186113 126 0 0 69 19 21.5909 OR5T2 0 genome.wustl.edu 37 11 55999981 55999981 + Silent SNP A A G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 11 55999981 55999981 A G SNP OR5T2 ENST00000313264 human ensembl 74_37 -1 known silent c.681 p.S227 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T2 HGNC ENSG00000181718 127 0 0 90 27 23.0769 GLYATL2 0 genome.wustl.edu 37 11 58602155 58602155 + Missense_Mutation SNP A A C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 11 58602155 58602155 A C SNP GLYATL2 ENST00000287275 human ensembl 74_37 -1 known missense c.632 p.L211R 0.011 pfam_Glycine_N-acyltransferase_C,pfam_FR47,superfamily_Acyl_CoA_acyltransferase pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,pfam_FR47,superfamily_Acyl_CoA_acyltransferase - no_errors GLYATL2 HGNC ENSG00000156689 56 0 0 33 10 23.2558 OR52L1 0 genome.wustl.edu 37 11 6008074 6008074 + Silent SNP A A G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 11 6008074 6008074 A G SNP OR52L1 ENST00000332249 human ensembl 74_37 -1 known silent c.87 p.S29 0.977 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52L1 HGNC ENSG00000183313 54 0 0 39 21 35 AIP 0 genome.wustl.edu 37 11 67254509 67254509 + Silent SNP C C T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 11 67254509 67254509 C T SNP AIP ENST00000279146 human ensembl 74_37 +1 known silent c.132 p.D44 0.021 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors AIP HGNC ENSG00000110711 87 0 0 102 17 14.2857 TENM4 0 genome.wustl.edu 37 11 78381433 78381433 + Missense_Mutation SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 11 78381433 78381433 G A SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.5957 p.A1986V 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 32 0 0 28 8 22.2222 FOLH1B 0 genome.wustl.edu 37 11 89429883 89429883 + RNA SNP C C A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 11 89429883 89429883 C A SNP FOLH1B ENST00000525540 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors FOLH1B HGNC ENSG00000134612 34 0 0 13 7 35 MTMR2 0 genome.wustl.edu 37 11 95574830 95574830 + Missense_Mutation SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 11 95574830 95574830 G A SNP MTMR2 ENST00000346299 human ensembl 74_37 -1 known missense c.1430 p.S477L 1.000 smart_Tyr_Pase_cat pfam_Myotubularin-like_Pase_dom,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors MTMR2 HGNC ENSG00000087053 133 0 0 60 35 36.8421 POLR3B 0 genome.wustl.edu 37 12 106895167 106895167 + Silent SNP A A T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 12 106895167 106895167 A T SNP POLR3B ENST00000228347 human ensembl 74_37 +1 known silent c.3051 p.L1017 0.983 pfam_DNA-dir_RNA_pol_su2_6 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_5 - no_errors POLR3B HGNC ENSG00000013503 56 0 0 45 15 25 ZCCHC8 0 genome.wustl.edu 37 12 122958719 122958719 + Silent SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 12 122958719 122958719 G A SNP ZCCHC8 ENST00000336229 human ensembl 74_37 -1 known silent c.1449 p.V483 0.997 NULL pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC - no_errors ZCCHC8 HGNC ENSG00000033030 59 0 0 55 19 25.6757 TMEM132D 0 genome.wustl.edu 37 12 129569124 129569124 + Missense_Mutation SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 12 129569124 129569124 G A SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known missense c.1567 p.R523W 1.000 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 32 0 0 35 17 32.6923 CACNA1C 0 genome.wustl.edu 37 12 2794937 2794937 + Missense_Mutation SNP C C T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 12 2794937 2794937 C T SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known missense c.5822 p.T1941M 0.939 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 50 0 0 39 5 11.3636 KRT74 0 genome.wustl.edu 37 12 52964498 52964498 + Silent SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 12 52964498 52964498 G A SNP KRT74 ENST00000305620 human ensembl 74_37 -1 known silent c.963 p.I321 0.116 pfam_IF pfam_IF,prints_Keratin_II - no_errors KRT74 HGNC ENSG00000170484 44 0 0 48 21 30.4348 EPYC 0 genome.wustl.edu 37 12 91371910 91371910 + Nonsense_Mutation SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 12 91371910 91371910 G A SNP EPYC ENST00000261172 human ensembl 74_37 -1 known nonsense c.295 p.Q99* 0.988 NULL pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors EPYC HGNC ENSG00000083782 70 0 0 56 16 22.2222 FRY 0 genome.wustl.edu 37 13 32798522 32798522 + Missense_Mutation SNP G G T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 13 32798522 32798522 G T SNP FRY ENST00000380250 human ensembl 74_37 +1 known missense c.4916 p.R1639M 1.000 NULL superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 48 0 0 30 11 26.8293 TNFSF11 0 genome.wustl.edu 37 13 43148629 43148629 + Missense_Mutation SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 13 43148629 43148629 G A SNP TNFSF11 ENST00000239849 human ensembl 74_37 +1 known missense c.190 p.V64I 1.000 pirsf_TNF_ligand_10/11 pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_10/11,pfscan_TNF_dom - no_errors TNFSF11 HGNC ENSG00000120659 20 0 0 23 4 14.8148 UTP14C 0 genome.wustl.edu 37 13 52603712 52603712 + Missense_Mutation SNP G G C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 13 52603712 52603712 G C SNP UTP14C ENST00000521776 human ensembl 74_37 +1 known missense c.772 p.G258R 0.995 pfam_SSU_processome_Utp14 pfam_SSU_processome_Utp14 - no_errors UTP14C HGNC ENSG00000253797 73 0 0 72 7 8.86076 AHNAK2 0 genome.wustl.edu 37 14 105414728 105414728 + Missense_Mutation SNP G G T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 14 105414728 105414728 G T SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.7060 p.L2354I 0.001 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 208 0 0 271 123 31.2183 OR4K5 0 genome.wustl.edu 37 14 20388855 20388855 + Missense_Mutation SNP C C A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 14 20388855 20388855 C A SNP OR4K5 ENST00000315915 human ensembl 74_37 +1 known missense c.90 p.F30L 0.002 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K5 HGNC ENSG00000176281 137 0 0 96 13 11.9266 OR4K15 0 genome.wustl.edu 37 14 20444306 20444306 + Missense_Mutation SNP A A C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 14 20444306 20444306 A C SNP OR4K15 ENST00000305051 human ensembl 74_37 +1 known missense c.629 p.K210T 0.099 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K15 HGNC ENSG00000169488 190 0 0 143 26 15.3846 TOX4 0 genome.wustl.edu 37 14 21955783 21955783 + Silent SNP C C T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 14 21955783 21955783 C T SNP TOX4 ENST00000262709 human ensembl 74_37 +1 known silent c.249 p.D83 0.998 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX4 HGNC ENSG00000092203 94 0 0 106 26 19.697 PRKD1 0 genome.wustl.edu 37 14 30093429 30093429 + Nonsense_Mutation SNP T T A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 14 30093429 30093429 T A SNP PRKD1 ENST00000331968 human ensembl 74_37 -1 known nonsense c.1834 p.K612* 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,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD1 HGNC ENSG00000184304 92 0 0 73 11 13.0952 KIAA0586 0 genome.wustl.edu 37 14 58955445 58955445 + Missense_Mutation SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 14 58955445 58955445 G A SNP KIAA0586 ENST00000556134 human ensembl 74_37 +1 known missense c.3589 p.A1197T 0.004 NULL NULL - no_errors KIAA0586 HGNC ENSG00000100578 58 0 0 17 23 57.5 SIX4 0 genome.wustl.edu 37 14 61190154 61190154 + Silent SNP T T C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 14 61190154 61190154 T C SNP SIX4 ENST00000216513 human ensembl 74_37 -1 known silent c.639 p.K213 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX4 HGNC ENSG00000100625 22 0 0 12 19 61.2903 SYNE2 0 genome.wustl.edu 37 14 64596767 64596767 + Missense_Mutation SNP A A G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 14 64596767 64596767 A G SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.14141 p.D4714G 0.996 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 44 0 0 42 10 19.2308 ADAM21 0 genome.wustl.edu 37 14 70925003 70925003 + Missense_Mutation SNP C C A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 14 70925003 70925003 C A SNP ADAM21 ENST00000267499 human ensembl 74_37 +1 known missense c.787 p.Q263K 0.215 pfam_Peptidase_M12B,pfscan_Peptidase_M12B 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 ADAM21 HGNC ENSG00000139985 65 0 0 26 20 43.4783 UNC79 0 genome.wustl.edu 37 14 94044270 94044270 + Missense_Mutation SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 14 94044270 94044270 G A SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known missense c.2294 p.R765Q 1.000 NULL superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 200 1 0.497512 174 32 15.534 LRRK1 0 genome.wustl.edu 37 15 101528929 101528929 + Missense_Mutation SNP C C T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 15 101528929 101528929 C T SNP LRRK1 ENST00000388948 human ensembl 74_37 +1 known missense c.524 p.T175M 0.771 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors LRRK1 HGNC ENSG00000154237 76 0 0 52 22 29.7297 CATSPER2P1 0 genome.wustl.edu 37 15 44036757 44036757 + RNA SNP C C T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 15 44036757 44036757 C T SNP CATSPER2P1 ENST00000381680 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CATSPER2P1 HGNC ENSG00000205771 62 0 0 42 9 17.6471 SLC12A1 0 genome.wustl.edu 37 15 48559802 48559802 + Silent SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 15 48559802 48559802 G A SNP SLC12A1 ENST00000380993 human ensembl 74_37 +1 known silent c.2199 p.A733 0.680 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A1 HGNC ENSG00000074803 80 0 0 38 11 22.449 SECISBP2L 0 genome.wustl.edu 37 15 49308888 49308888 + Missense_Mutation SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 15 49308888 49308888 G A SNP SECISBP2L ENST00000559471 human ensembl 74_37 -1 known missense c.1430 p.S477L 1.000 NULL pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors SECISBP2L HGNC ENSG00000138593 37 0 0 12 6 33.3333 MYO5A 0 genome.wustl.edu 37 15 52613705 52613705 + Missense_Mutation SNP C C T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 15 52613705 52613705 C T SNP MYO5A ENST00000358212 human ensembl 74_37 -1 known missense c.4802 p.G1601D 1.000 pfscan_Dilute pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC ENSG00000197535 106 0 0 65 17 20.7317 DPP8 0 genome.wustl.edu 37 15 65739344 65739344 + Missense_Mutation SNP T T A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 15 65739344 65739344 T A SNP DPP8 ENST00000341861 human ensembl 74_37 -1 known missense c.2575 p.I859F 1.000 pfam_Peptidase_S9 pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom - no_errors DPP8 HGNC ENSG00000074603 77 0 0 28 15 34.8837 NTRK3 0 genome.wustl.edu 37 15 88680715 88680715 + Missense_Mutation SNP T T C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 15 88680715 88680715 T C SNP NTRK3 ENST00000360948 human ensembl 74_37 -1 known missense c.542 p.K181R 0.001 smart_Cys-rich_flank_reg_C pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NTRK3 HGNC ENSG00000140538 40 0 0 28 10 26.3158 ZNF710 0 genome.wustl.edu 37 15 90616324 90616324 + Missense_Mutation SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 15 90616324 90616324 G A SNP ZNF710 ENST00000268154 human ensembl 74_37 +1 known missense c.1480 p.E494K 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF710 HGNC ENSG00000140548 48 0 0 32 10 23.8095 HS3ST4 0 genome.wustl.edu 37 16 26147533 26147533 + Missense_Mutation SNP A A C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 16 26147533 26147533 A C SNP HS3ST4 ENST00000331351 human ensembl 74_37 +1 known missense c.1335 p.Q445H 0.993 superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST4 HGNC ENSG00000182601 29 0 0 23 3 11.5385 SETD1A 0 genome.wustl.edu 37 16 30982811 30982811 + Silent SNP C C A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 16 30982811 30982811 C A SNP SETD1A ENST00000262519 human ensembl 74_37 +1 known silent c.3129 p.S1043 0.676 NULL pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1A HGNC ENSG00000099381 92 0 0 57 4 6.55738 ZNF646 0 genome.wustl.edu 37 16 31089848 31089848 + Missense_Mutation SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 16 31089848 31089848 G A SNP ZNF646 ENST00000300850 human ensembl 74_37 +1 known missense c.2203 p.E735K 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 103 0 0 91 22 19.469 CNOT1 0 genome.wustl.edu 37 16 58633182 58633182 + Missense_Mutation SNP T T G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 16 58633182 58633182 T G SNP CNOT1 ENST00000317147 human ensembl 74_37 -1 known missense c.60 p.L20F 1.000 NULL pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 74 0 0 26 12 31.5789 RLTPR 0 genome.wustl.edu 37 16 67688536 67688536 + Missense_Mutation SNP T T A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 16 67688536 67688536 T A SNP RLTPR ENST00000334583 human ensembl 74_37 +1 known missense c.3523 p.Y1175N 0.973 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RLTPR HGNC ENSG00000159753 32 0 0 23 6 20.6897 ANKRD11 0 genome.wustl.edu 37 16 89351933 89351933 + Silent SNP G G C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 16 89351933 89351933 G C SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known silent c.1017 p.A339 0.003 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 114 0 0 96 20 17.2414 RPL23A 0 genome.wustl.edu 37 17 27047880 27047880 + Missense_Mutation SNP C C G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 17 27047880 27047880 C G SNP RPL23A ENST00000422514 human ensembl 74_37 +1 known missense c.181 p.P61A 1.000 pfam_Ribosomal_L23/L25_N pfam_Ribosomal_L23/L25_N,pfam_Ribosomal_L25/23,superfamily_Ribosomal_L23/L15e_core_dom,tigrfam_Ribosomal_L23 - no_errors RPL23A HGNC ENSG00000198242 60 0 0 59 39 39.7959 MIEN1 0 genome.wustl.edu 37 17 37886535 37886535 + Nonsense_Mutation SNP G G T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 17 37886535 37886535 G T SNP MIEN1 ENST00000394231 human ensembl 74_37 -1 known nonsense c.99 p.C33* 1.000 pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ - no_errors MIEN1 HGNC ENSG00000141741 15 0 0 46 4 8 UNK 0 genome.wustl.edu 37 17 73820418 73820418 + Missense_Mutation SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 17 73820418 73820418 G A SNP UNK ENST00000293218 human ensembl 74_37 +1 known missense c.2581 p.A861T 0.544 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors UNK HGNC ENSG00000132478 8 0 0 9 21 70 CDK3 0 genome.wustl.edu 37 17 73997514 73997514 + Missense_Mutation SNP T T C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 17 73997514 73997514 T C SNP CDK3 ENST00000425876 human ensembl 74_37 +1 known missense c.8 p.M3T 0.991 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 CDK3 HGNC ENSG00000250506 65 0 0 15 67 81.7073 SEC14L1 0 genome.wustl.edu 37 17 75196731 75196731 + Nonsense_Mutation SNP G G T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 17 75196731 75196731 G T SNP SEC14L1 ENST00000392476 human ensembl 74_37 +1 known nonsense c.985 p.G329* 0.999 superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1 - no_errors SEC14L1 HGNC ENSG00000129657 114 0 0 107 47 30.5195 SEC14L1 0 genome.wustl.edu 37 17 75208180 75208180 + Missense_Mutation SNP C C T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 17 75208180 75208180 C T SNP SEC14L1 ENST00000392476 human ensembl 74_37 +1 known missense c.1760 p.P587L 0.968 superfamily_GOLD,pfscan_GOLD pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1 - no_errors SEC14L1 HGNC ENSG00000129657 274 0 0 220 101 31.4642 TP53 0 genome.wustl.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 17 7577120 7577120 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.818 p.R273H 0.864 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 23 0 0 13 6 31.5789 CHD3 0 genome.wustl.edu 37 17 7802338 7802338 + Nonsense_Mutation SNP A A T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 17 7802338 7802338 A T SNP CHD3 ENST00000330494 human ensembl 74_37 +1 known nonsense c.2161 p.K721* 1.000 superfamily_P-loop_NTPase pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 98 0 0 63 13 17.1053 TIMM22 0 genome.wustl.edu 37 17 900492 900492 + Missense_Mutation SNP G G T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 17 900492 900492 G T SNP TIMM22 ENST00000327158 human ensembl 74_37 +1 known missense c.110 p.R37L 1.000 NULL pfam_Tim17/Tim22/Tim23/PMP24 - no_errors TIMM22 HGNC ENSG00000177370 37 0 0 32 2 5.88235 EPB41L3 0 genome.wustl.edu 37 18 5398038 5398038 + Silent SNP A A C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 18 5398038 5398038 A C SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known silent c.2454 p.T818 1.000 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 217 1 0.458716 71 34 32.381 ZNF844 0 genome.wustl.edu 37 19 12184935 12184935 + Missense_Mutation SNP A A C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 19 12184935 12184935 A C SNP ZNF844 ENST00000439326 human ensembl 74_37 +1 known missense c.93 p.E31D 0.953 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF844 HGNC ENSG00000223547 103 0 0 47 43 47.7778 KLF1 0 genome.wustl.edu 37 19 12997936 12997936 + Missense_Mutation SNP C C T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 19 12997936 12997936 C T SNP KLF1 ENST00000264834 human ensembl 74_37 -1 known missense c.19 p.A7T 0.073 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF1 HGNC ENSG00000105610 61 0 0 42 17 28.8136 CD97 0 genome.wustl.edu 37 19 14517953 14517953 + Missense_Mutation SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 19 14517953 14517953 G A SNP CD97 ENST00000242786 human ensembl 74_37 +1 known missense c.2288 p.R763Q 0.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt - no_errors CD97 HGNC ENSG00000123146 105 0 0 97 19 16.3793 ZNF737 0 genome.wustl.edu 37 19 20728483 20728483 + Missense_Mutation SNP T T C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 19 20728483 20728483 T C SNP ZNF737 ENST00000427401 human ensembl 74_37 -1 known missense c.526 p.I176V 0.006 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 ZNF737 HGNC ENSG00000237440 35 0 0 19 10 34.4828 PLEKHF1 0 genome.wustl.edu 37 19 30165082 30165082 + Silent SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 19 30165082 30165082 G A SNP PLEKHF1 ENST00000436066 human ensembl 74_37 +1 known silent c.336 p.S112 0.028 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Znf_FYVE,pfam_Pleckstrin_homology,superfamily_Znf_FYVE_PHD,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel - no_errors PLEKHF1 HGNC ENSG00000166289 45 0 0 118 11 8.52713 LRP3 0 genome.wustl.edu 37 19 33696647 33696647 + Missense_Mutation SNP C C T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 19 33696647 33696647 C T SNP LRP3 ENST00000253193 human ensembl 74_37 +1 known missense c.971 p.T324M 0.961 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP3 HGNC ENSG00000130881 11 0 0 13 6 31.5789 NFKBID 0 genome.wustl.edu 37 19 36386962 36386962 + Missense_Mutation SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 19 36386962 36386962 G A SNP NFKBID ENST00000352614 human ensembl 74_37 -1 known missense c.982 p.R328W 0.014 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors NFKBID HGNC ENSG00000167604 94 0 0 65 31 32.2917 ZNF573 0 genome.wustl.edu 37 19 38229531 38229531 + Silent SNP A A G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 19 38229531 38229531 A G SNP ZNF573 ENST00000590414 human ensembl 74_37 -1 known silent c.1860 p.S620 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF573 HGNC ENSG00000189144 106 0 0 55 28 33.7349 CYP2A7 0 genome.wustl.edu 37 19 41384726 41384726 + Missense_Mutation SNP C C T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 19 41384726 41384726 C T SNP CYP2A7 ENST00000301146 human ensembl 74_37 -1 known missense c.770 p.R257H 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2B-like - no_errors CYP2A7 HGNC ENSG00000198077 46 0 0 43 10 18.8679 MARK4 0 genome.wustl.edu 37 19 45801008 45801008 + Missense_Mutation SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 19 45801008 45801008 G A SNP MARK4 ENST00000262891 human ensembl 74_37 +1 known missense c.1673 p.R558H 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,pfam_UBA/Ts_N,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors MARK4 HGNC ENSG00000007047 8 0 0 12 10 45.4545 CCDC155 0 genome.wustl.edu 37 19 49913073 49913073 + Missense_Mutation SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 19 49913073 49913073 G A SNP CCDC155 ENST00000447857 human ensembl 74_37 +1 known missense c.1210 p.V404I 0.009 NULL NULL - no_errors CCDC155 HGNC ENSG00000161609 84 0 0 28 21 42.8571 PPP2R1A 0 genome.wustl.edu 37 19 52722958 52722958 + Silent SNP G G T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 19 52722958 52722958 G T SNP PPP2R1A ENST00000322088 human ensembl 74_37 +1 known silent c.1143 p.R381 0.996 superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP2R1A HGNC ENSG00000105568 61 0 0 44 22 33.3333 EPS8L1 0 genome.wustl.edu 37 19 55597230 55597230 + Silent SNP A A G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 19 55597230 55597230 A G SNP EPS8L1 ENST00000201647 human ensembl 74_37 +1 known silent c.1407 p.E469 0.019 superfamily_SH3_domain pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTB/PI_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8L1 HGNC ENSG00000131037 87 0 0 87 22 20.1835 ZNF71 0 genome.wustl.edu 37 19 57132977 57132977 + Missense_Mutation SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 19 57132977 57132977 G A SNP ZNF71 ENST00000328070 human ensembl 74_37 +1 known missense c.322 p.G108S 0.011 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF71 HGNC ENSG00000197951 49 0 0 61 17 21.7949 PEG3 0 genome.wustl.edu 37 19 57333083 57333083 + Missense_Mutation SNP T T G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 19 57333083 57333083 T G SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.605 p.K202T 0.000 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 180 0 0 133 21 13.6364 ZNF417 0 genome.wustl.edu 37 19 58420576 58420576 + Missense_Mutation SNP C C T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 19 58420576 58420576 C T SNP ZNF417 ENST00000312026 human ensembl 74_37 -1 known missense c.1070 p.C357Y 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 ZNF417 HGNC ENSG00000173480 160 0 0 106 46 30.2632 DENND1C 0 genome.wustl.edu 37 19 6475579 6475579 + Silent SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 19 6475579 6475579 G A SNP DENND1C ENST00000381480 human ensembl 74_37 -1 known silent c.843 p.A281 0.235 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1C HGNC ENSG00000205744 85 0 0 51 22 30.137 C3 0 genome.wustl.edu 37 19 6707204 6707204 + Missense_Mutation SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 19 6707204 6707204 G A SNP C3 ENST00000245907 human ensembl 74_37 -1 known missense c.2128 p.R710W 0.913 pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 38 0 0 28 12 30 ADAMTS10 0 genome.wustl.edu 37 19 8660758 8660758 + Missense_Mutation SNP C C T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 19 8660758 8660758 C T SNP ADAMTS10 ENST00000270328 human ensembl 74_37 -1 known missense c.1367 p.R456Q 0.998 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,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 ADAMTS10 HGNC ENSG00000142303 156 0 0 103 33 24.2647 MUC16 0 genome.wustl.edu 37 19 9061337 9061337 + Silent SNP A A C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 19 9061337 9061337 A C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.26109 p.T8703 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 62 0 0 40 23 36.5079 MUC16 0 genome.wustl.edu 37 19 9061989 9061989 + Missense_Mutation SNP A A C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 19 9061989 9061989 A C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.25457 p.I8486S 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 257 0 0 176 70 28.4553 ZC3H6 0 genome.wustl.edu 37 2 113088967 113088967 + Silent SNP T T C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 2 113088967 113088967 T C SNP ZC3H6 ENST00000343936 human ensembl 74_37 +1 known silent c.2472 p.D824 0.960 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H6 HGNC ENSG00000188177 119 0 0 76 43 36.1345 ARHGEF4 0 genome.wustl.edu 37 2 131797714 131797714 + Missense_Mutation SNP G G T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 2 131797714 131797714 G T SNP ARHGEF4 ENST00000326016 human ensembl 74_37 +1 known missense c.873 p.E291D 1.000 pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF4 HGNC ENSG00000136002 25 0 0 41 3 6.81818 TUBA3D 0 genome.wustl.edu 37 2 132240311 132240311 + Missense_Mutation SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 2 132240311 132240311 G A SNP TUBA3D ENST00000321253 human ensembl 74_37 +1 known missense c.1243 p.E415K 1.000 superfamily_Tub_FtsZ_C,prints_Delta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3D HGNC ENSG00000075886 248 0 0 226 20 8.13008 NCKAP5 0 genome.wustl.edu 37 2 133540288 133540288 + Missense_Mutation SNP T T G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 2 133540288 133540288 T G SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known missense c.4096 p.S1366R 0.996 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 48 0 0 59 15 20.2703 LRP1B 0 genome.wustl.edu 37 2 141208232 141208232 + Splice_Site SNP T T G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 2 141208232 141208232 T G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known splice_site c.9964-2 e63-2 1.000 - - - no_errors LRP1B HGNC ENSG00000168702 43 0 0 15 9 37.5 PXDN 0 genome.wustl.edu 37 2 1652664 1652664 + Missense_Mutation SNP T T C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 2 1652664 1652664 T C SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.2888 p.E963G 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 15 0 0 4 25 86.2069 SCN3A 0 genome.wustl.edu 37 2 165952151 165952151 + Missense_Mutation SNP A A C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 2 165952151 165952151 A C SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known missense c.4301 p.L1434R 0.998 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 55 0 0 19 6 24 TTN 0 genome.wustl.edu 37 2 179428834 179428834 + Missense_Mutation SNP G G T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 2 179428834 179428834 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.74321 p.T24774N 0.992 pfam_Ig_I-set,superfamily_Calpain_domain_III,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 193 0 0 120 40 25 GTF3C3 0 genome.wustl.edu 37 2 197656104 197656104 + Missense_Mutation SNP T T G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 2 197656104 197656104 T G SNP GTF3C3 ENST00000263956 human ensembl 74_37 -1 known missense c.492 p.E164D 0.999 smart_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GTF3C3 HGNC ENSG00000119041 82 0 0 34 19 35.8491 NIF3L1 0 genome.wustl.edu 37 2 201757042 201757042 + Missense_Mutation SNP C C T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 2 201757042 201757042 C T SNP NIF3L1 ENST00000409020 human ensembl 74_37 +1 known missense c.376 p.P126S 1.000 pfam_Interacting_NIF3,superfamily_Interacting_NIF3,pirsf_UCP037490_NIF3_euk,tigrfam_Interacting_NIF3 pfam_Interacting_NIF3,superfamily_Interacting_NIF3,pirsf_UCP037490_NIF3_euk,tigrfam_Interacting_NIF3 - no_errors NIF3L1 HGNC ENSG00000196290 77 0 0 54 27 33.3333 ZDBF2 0 genome.wustl.edu 37 2 207171207 207171207 + Missense_Mutation SNP A A C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 2 207171207 207171207 A C SNP ZDBF2 ENST00000374423 human ensembl 74_37 +1 known missense c.1955 p.K652T 0.115 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 76 0 0 57 13 18.5714 ZDBF2 0 genome.wustl.edu 37 2 207171930 207171930 + Missense_Mutation SNP A A G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 2 207171930 207171930 A G SNP ZDBF2 ENST00000374423 human ensembl 74_37 +1 known missense c.2678 p.K893R 0.005 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 60 0 0 37 13 26 ZDBF2 0 genome.wustl.edu 37 2 207172948 207172948 + Missense_Mutation SNP A A C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 2 207172948 207172948 A C SNP ZDBF2 ENST00000374423 human ensembl 74_37 +1 known missense c.3696 p.E1232D 0.954 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 31 0 0 41 13 24.0741 SERPINE2 0 genome.wustl.edu 37 2 224847456 224847456 + Missense_Mutation SNP T T G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 2 224847456 224847456 T G SNP SERPINE2 ENST00000258405 human ensembl 74_37 -1 known missense c.927 p.K309N 0.674 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINE2 HGNC ENSG00000135919 45 0 0 28 11 28.2051 DOCK10 0 genome.wustl.edu 37 2 225659637 225659637 + Missense_Mutation SNP T T C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 2 225659637 225659637 T C SNP DOCK10 ENST00000258390 human ensembl 74_37 -1 known missense c.5113 p.S1705G 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 78 0 0 65 25 27.7778 COL4A3 0 genome.wustl.edu 37 2 228135486 228135486 + Missense_Mutation SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 2 228135486 228135486 G A SNP COL4A3 ENST00000396578 human ensembl 74_37 +1 known missense c.1576 p.G526S 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A3 HGNC ENSG00000169031 33 0 0 40 10 20 PSMD1 0 genome.wustl.edu 37 2 231931790 231931790 + Nonsense_Mutation SNP A A T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 2 231931790 231931790 A T SNP PSMD1 ENST00000308696 human ensembl 74_37 +1 known nonsense c.475 p.R159* 1.000 superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2 pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2 - no_errors PSMD1 HGNC ENSG00000173692 23 0 0 15 13 46.4286 PER2 0 genome.wustl.edu 37 2 239186565 239186565 + Missense_Mutation SNP C C T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 2 239186565 239186565 C T SNP PER2 ENST00000254657 human ensembl 74_37 -1 known missense c.13 p.A5T 0.000 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER2 HGNC ENSG00000132326 25 0 0 25 4 13.7931 DZANK1 0 genome.wustl.edu 37 20 18407803 18407803 + Nonsense_Mutation SNP C C A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 20 18407803 18407803 C A SNP DZANK1 ENST00000262547 human ensembl 74_37 -1 known nonsense c.862 p.E288* 1.000 NULL superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors DZANK1 HGNC ENSG00000089091 31 0 0 13 10 43.4783 C20orf26 0 genome.wustl.edu 37 20 20232238 20232238 + Splice_Site SNP G G T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 20 20232238 20232238 G T SNP C20orf26 ENST00000245957 human ensembl 74_37 +1 known splice_site c.2160-1 e19-1 1.000 - - - no_errors C20orf26 HGNC ENSG00000089101 101 0 0 70 10 12.5 HCK 0 genome.wustl.edu 37 20 30671801 30671801 + Nonsense_Mutation SNP C C T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 20 30671801 30671801 C T SNP HCK ENST00000375852 human ensembl 74_37 +1 known nonsense c.637 p.R213* 0.205 pfam_SH2,smart_SH2,pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors HCK HGNC ENSG00000101336 57 0 0 90 28 23.7288 ADAM33 0 genome.wustl.edu 37 20 3652266 3652266 + Missense_Mutation SNP C C A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 20 3652266 3652266 C A SNP ADAM33 ENST00000356518 human ensembl 74_37 -1 known missense c.1867 p.G623C 1.000 smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,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_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM33 HGNC ENSG00000149451 9 0 0 16 3 15.7895 FAM83D 0 genome.wustl.edu 37 20 37580424 37580424 + Missense_Mutation SNP C C G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 20 37580424 37580424 C G SNP FAM83D ENST00000217429 human ensembl 74_37 +1 known missense c.1109 p.T370S 0.986 NULL pfam_DUF1669 - no_errors FAM83D HGNC ENSG00000101447 109 0 0 188 21 10.0478 ZNF335 0 genome.wustl.edu 37 20 44587884 44587884 + Missense_Mutation SNP T T G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 20 44587884 44587884 T G SNP ZNF335 ENST00000322927 human ensembl 74_37 -1 known missense c.2209 p.S737R 0.090 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF335 HGNC ENSG00000198026 69 0 0 81 29 26.3636 IGHV1OR21-1 0 genome.wustl.edu 37 21 10862949 10862949 + Missense_Mutation SNP A A C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 21 10862949 10862949 A C SNP IGHV1OR21-1 ENST00000559480 human ensembl 74_37 +1 known missense c.245 p.K82T 0.002 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGHV1OR21-1 HGNC ENSG00000169861 345 0 0 257 52 16.8285 TPTE 0 genome.wustl.edu 37 21 10944719 10944719 + Missense_Mutation SNP A A C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 21 10944719 10944719 A C SNP TPTE ENST00000361285 human ensembl 74_37 -1 known missense c.515 p.V172G 0.371 pfam_Ion_trans_dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 227 0 0 84 17 16.8317 KRTAP13-2 0 genome.wustl.edu 37 21 31744089 31744089 + Missense_Mutation SNP C C T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 21 31744089 31744089 C T SNP KRTAP13-2 ENST00000399889 human ensembl 74_37 -1 known missense c.443 p.R148H 0.000 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP13-2 HGNC ENSG00000182816 62 0 0 28 43 60.5634 PCNT 0 genome.wustl.edu 37 21 47776997 47776997 + Missense_Mutation SNP C C T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 21 47776997 47776997 C T SNP PCNT ENST00000359568 human ensembl 74_37 +1 known missense c.2045 p.S682L 0.000 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 77 0 0 22 18 45 MICAL3 0 genome.wustl.edu 37 22 18310439 18310439 + Missense_Mutation SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 22 18310439 18310439 G A SNP MICAL3 ENST00000441493 human ensembl 74_37 -1 known missense c.3164 p.A1055V 0.007 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC ENSG00000243156 8 0 0 7 9 56.25 UPB1 0 genome.wustl.edu 37 22 24891382 24891382 + Missense_Mutation SNP C C T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 22 24891382 24891382 C T SNP UPB1 ENST00000326010 human ensembl 74_37 +1 known missense c.11 p.A4V 0.005 NULL pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase - no_errors UPB1 HGNC ENSG00000100024 72 0 0 66 34 34 PES1 0 genome.wustl.edu 37 22 30977576 30977576 + Missense_Mutation SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 22 30977576 30977576 G A SNP PES1 ENST00000354694 human ensembl 74_37 -1 known missense c.686 p.T229M 1.000 pfam_Pescadillo pfam_Pescadillo,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors PES1 HGNC ENSG00000100029 28 0 0 21 15 41.6667 APOBEC3B 0 genome.wustl.edu 37 22 39387489 39387489 + Missense_Mutation SNP A A G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 22 39387489 39387489 A G SNP APOBEC3B ENST00000335760 human ensembl 74_37 +1 known missense c.722 p.K241R 0.000 NULL pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3B HGNC ENSG00000179750 175 0 0 151 34 18.3784 BOC 0 genome.wustl.edu 37 3 113005559 113005559 + Missense_Mutation SNP G G C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 3 113005559 113005559 G C SNP BOC ENST00000273395 human ensembl 74_37 +1 known missense c.3198 p.E1066D 0.991 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors BOC HGNC ENSG00000144857 260 1 0.383142 187 14 6.96517 CLSTN2 0 genome.wustl.edu 37 3 140280993 140280993 + Missense_Mutation SNP A A C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 3 140280993 140280993 A C SNP CLSTN2 ENST00000458420 human ensembl 74_37 +1 known missense c.2055 p.E685D 0.004 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC ENSG00000158258 48 0 0 22 7 24.1379 IGSF10 0 genome.wustl.edu 37 3 151166629 151166629 + Missense_Mutation SNP C C G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 3 151166629 151166629 C G SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known missense c.1140 p.L380F 0.307 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 63 0 0 36 12 25 C3orf79 0 genome.wustl.edu 37 3 153220203 153220203 + Nonsense_Mutation SNP C C T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 3 153220203 153220203 C T SNP C3orf79 ENST00000446603 human ensembl 74_37 +1 known nonsense c.235 p.Q79* 0.000 NULL NULL - no_errors C3orf79 HGNC ENSG00000237787 79 0 0 49 7 12.5 MLF1 0 genome.wustl.edu 37 3 158315949 158315949 + Silent SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 3 158315949 158315949 G A SNP MLF1 ENST00000392822 human ensembl 74_37 +1 known silent c.453 p.P151 0.684 pfam_Myeloid_leukemia_factor pfam_Myeloid_leukemia_factor - no_errors MLF1 HGNC ENSG00000178053 62 0 0 46 24 34.2857 GFM1 0 genome.wustl.edu 37 3 158364655 158364655 + Missense_Mutation SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 3 158364655 158364655 G A SNP GFM1 ENST00000486715 human ensembl 74_37 +1 known missense c.491 p.R164H 1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,tigrfam_Transl_elong_EFG/EF2,tigrfam_Small_GTP-bd_dom pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EFG/EF2,tigrfam_Small_GTP-bd_dom - no_errors GFM1 HGNC ENSG00000168827 50 0 0 26 35 57.377 SLITRK3 0 genome.wustl.edu 37 3 164905717 164905717 + Missense_Mutation SNP C C G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 3 164905717 164905717 C G SNP SLITRK3 ENST00000241274 human ensembl 74_37 -1 known missense c.2902 p.E968Q 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK3 HGNC ENSG00000121871 139 0 0 160 17 9.60452 LINC00969 0 genome.wustl.edu 37 3 195412596 195412596 + RNA SNP A A G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 3 195412596 195412596 A G SNP LINC00969 ENST00000414625 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors LINC00969 HGNC ENSG00000242086 24 0 0 30 7 18.9189 QARS 0 genome.wustl.edu 37 3 49136421 49136421 + Missense_Mutation SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 3 49136421 49136421 G A SNP QARS ENST00000306125 human ensembl 74_37 -1 known missense c.1760 p.S587F 0.981 pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,superfamily_Ribosomal_L25/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 52 0 0 35 12 25.5319 SNTN 0 genome.wustl.edu 37 3 63645500 63645500 + Missense_Mutation SNP C C G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 3 63645500 63645500 C G SNP SNTN ENST00000343837 human ensembl 74_37 +1 known missense c.245 p.A82G 1.000 NULL NULL - no_errors SNTN HGNC ENSG00000188817 111 0 0 51 17 25 MXD4 0 genome.wustl.edu 37 4 2252845 2252845 + Silent SNP C C T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 4 2252845 2252845 C T SNP MXD4 ENST00000337190 human ensembl 74_37 -1 known silent c.438 p.T146 0.422 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MXD4 HGNC ENSG00000123933 9 0 0 2 10 83.3333 KLF3 0 genome.wustl.edu 37 4 38696529 38696529 + Splice_Site SNP T T C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 4 38696529 38696529 T C SNP KLF3 ENST00000261438 human ensembl 74_37 +1 known splice_site c.856+2 e4+2 1.000 - - - no_errors KLF3 HGNC ENSG00000109787 72 0 0 18 18 50 GABRA2 0 genome.wustl.edu 37 4 46307630 46307630 + Missense_Mutation SNP G G T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 4 46307630 46307630 G T SNP GABRA2 ENST00000540012 human ensembl 74_37 -1 known missense c.493 p.L165M 0.998 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa2_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRA2 HGNC ENSG00000151834 60 0 0 13 8 38.0952 GABRA4 0 genome.wustl.edu 37 4 46930536 46930536 + Silent SNP A A C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 4 46930536 46930536 A C SNP GABRA4 ENST00000264318 human ensembl 74_37 -1 known silent c.1371 p.T457 0.082 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa4_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA4 HGNC ENSG00000109158 73 0 0 24 25 51.0204 ADAMTS3 0 genome.wustl.edu 37 4 73280572 73280572 + Missense_Mutation SNP T T G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 4 73280572 73280572 T G SNP ADAMTS3 ENST00000286657 human ensembl 74_37 -1 known missense c.621 p.E207D 0.341 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS3 HGNC ENSG00000156140 62 0 0 20 14 41.1765 PRKG2 0 genome.wustl.edu 37 4 82090920 82090920 + Missense_Mutation SNP T T C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 4 82090920 82090920 T C SNP PRKG2 ENST00000264399 human ensembl 74_37 -1 known missense c.745 p.I249V 0.102 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin - no_errors PRKG2 HGNC ENSG00000138669 49 0 0 19 11 36.6667 GIN1 0 genome.wustl.edu 37 5 102432413 102432413 + Missense_Mutation SNP T T G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 5 102432413 102432413 T G SNP GIN1 ENST00000399004 human ensembl 74_37 -1 known missense c.1126 p.N376H 1.000 NULL pfam_Integrase_cat-core,pfam_Znf_H2C2_histone_UAS-bd,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors GIN1 HGNC ENSG00000145723 226 0 0 118 17 12.5926 EPB41L4A 0 genome.wustl.edu 37 5 111541193 111541193 + Missense_Mutation SNP T T C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 5 111541193 111541193 T C SNP EPB41L4A ENST00000261486 human ensembl 74_37 -1 known missense c.1187 p.K396R 1.000 NULL pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L4A HGNC ENSG00000129595 310 0 0 168 46 21.4953 PCDHA10 0 genome.wustl.edu 37 5 140237119 140237119 + Missense_Mutation SNP C C T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 5 140237119 140237119 C T SNP PCDHA10 ENST00000307360 human ensembl 74_37 +1 known missense c.1486 p.R496W 0.972 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA10 HGNC ENSG00000250120 153 0 0 149 38 20.3209 PCDHB8 0 genome.wustl.edu 37 5 140559406 140559406 + Silent SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 5 140559406 140559406 G A SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known silent c.1791 p.S597 0.956 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 PCDHB8 HGNC ENSG00000120322 53 0 0 50 13 20.6349 GABRA6 0 genome.wustl.edu 37 5 161113276 161113276 + Missense_Mutation SNP T T G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 5 161113276 161113276 T G SNP GABRA6 ENST00000274545 human ensembl 74_37 +1 known missense c.79 p.F27V 0.990 prints_GABBAa6_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA6 HGNC ENSG00000145863 72 0 0 50 11 18.0328 C5orf58 0 genome.wustl.edu 37 5 169673139 169673139 + RNA SNP C C A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 5 169673139 169673139 C A SNP C5orf58 ENST00000518395 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors C5orf58 HGNC ENSG00000234511 35 0 0 26 7 21.2121 LMAN2 0 genome.wustl.edu 37 5 176765499 176765499 + Silent SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 5 176765499 176765499 G A SNP LMAN2 ENST00000303127 human ensembl 74_37 -1 known silent c.423 p.R141 1.000 pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf - no_errors LMAN2 HGNC ENSG00000169223 132 0 0 53 52 49.5238 ZNF454 0 genome.wustl.edu 37 5 178392185 178392185 + Silent SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 5 178392185 178392185 G A SNP ZNF454 ENST00000320129 human ensembl 74_37 +1 known silent c.780 p.T260 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF454 HGNC ENSG00000178187 109 0 0 53 17 24.2857 CDH12 0 genome.wustl.edu 37 5 21755799 21755799 + Missense_Mutation SNP C C T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 5 21755799 21755799 C T SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known missense c.1786 p.G596S 1.000 smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 62 0 0 46 14 23.3333 CDH10 0 genome.wustl.edu 37 5 24491771 24491771 + Missense_Mutation SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 5 24491771 24491771 G A SNP CDH10 ENST00000264463 human ensembl 74_37 -1 known missense c.1790 p.S597F 1.000 pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH10 HGNC ENSG00000040731 51 0 0 58 10 14.7059 CDH9 0 genome.wustl.edu 37 5 26988365 26988365 + Missense_Mutation SNP C C T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 5 26988365 26988365 C T SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known missense c.76 p.E26K 0.718 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 57 0 0 33 16 32.6531 KIAA0947 0 genome.wustl.edu 37 5 5464018 5464018 + Missense_Mutation SNP A A C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 5 5464018 5464018 A C SNP KIAA0947 ENST00000296564 human ensembl 74_37 +1 known missense c.4571 p.Q1524P 0.039 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 29 0 0 19 24 55.814 NLN 0 genome.wustl.edu 37 5 65073295 65073295 + Silent SNP A A G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 5 65073295 65073295 A G SNP NLN ENST00000380985 human ensembl 74_37 +1 known silent c.492 p.R164 1.000 NULL pfam_Pept_M3A_M3B - no_errors NLN HGNC ENSG00000123213 123 0 0 45 25 35.7143 AP3B1 0 genome.wustl.edu 37 5 77334987 77334987 + Missense_Mutation SNP C C G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 5 77334987 77334987 C G SNP AP3B1 ENST00000255194 human ensembl 74_37 -1 known missense c.2689 p.D897H 1.000 pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta - no_errors AP3B1 HGNC ENSG00000132842 57 0 0 29 10 25.641 GPR98 0 genome.wustl.edu 37 5 89979689 89979689 + Missense_Mutation SNP A A C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 5 89979689 89979689 A C SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.5951 p.K1984T 0.987 pfam_Calx_beta,smart_Calx_beta 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 23 0 0 10 4 28.5714 CCNC 0 genome.wustl.edu 37 6 100010763 100010763 + Missense_Mutation SNP G G C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 6 100010763 100010763 G C SNP CCNC ENST00000520429 human ensembl 74_37 -1 known missense c.94 p.L32V 1.000 superfamily_Cyclin-like,pirsf_CyclinC pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_CyclinC - no_errors CCNC HGNC ENSG00000112237 33 0 0 32 6 15.7895 MCHR2 0 genome.wustl.edu 37 6 100390875 100390875 + Silent SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 6 100390875 100390875 G A SNP MCHR2 ENST00000281806 human ensembl 74_37 -1 known silent c.537 p.D179 0.399 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor,prints_MCH_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor,prints_GPCR_Rhodpsn,prints_MCH_rcpt - no_errors MCHR2 HGNC ENSG00000152034 119 0 0 137 20 12.7389 RFPL4B 0 genome.wustl.edu 37 6 112671505 112671505 + Missense_Mutation SNP C C A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 6 112671505 112671505 C A SNP RFPL4B ENST00000441065 human ensembl 74_37 +1 known missense c.595 p.P199T 0.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RFPL4B HGNC ENSG00000251258 59 0 0 62 30 32.6087 TSPYL1 0 genome.wustl.edu 37 6 116600397 116600397 + Silent SNP A A G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 6 116600397 116600397 A G SNP TSPYL1 ENST00000368608 human ensembl 74_37 -1 known silent c.597 p.G199 0.031 NULL pfam_NAP_family - no_errors TSPYL1 HGNC ENSG00000189241 27 0 0 60 4 6.25 KIAA0408 0 genome.wustl.edu 37 6 127768551 127768551 + Missense_Mutation SNP T T G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 6 127768551 127768551 T G SNP KIAA0408 ENST00000483725 human ensembl 74_37 -1 novel missense c.913 p.S305R 0.000 NULL NULL - no_errors KIAA0408 HGNC ENSG00000189367 86 0 0 91 10 9.90099 BCLAF1 0 genome.wustl.edu 37 6 136596730 136596730 + Missense_Mutation SNP T T C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 6 136596730 136596730 T C SNP BCLAF1 ENST00000531224 human ensembl 74_37 -1 known missense c.1792 p.S598G 1.000 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 171 0 0 161 15 8.52273 SYNE1 0 genome.wustl.edu 37 6 152651701 152651701 + Nonsense_Mutation SNP C C A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 6 152651701 152651701 C A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known nonsense c.14119 p.E4707* 0.376 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 43 0 0 47 16 25.3968 HIST1H3J 0 genome.wustl.edu 37 6 27858243 27858243 + Missense_Mutation SNP G G C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 6 27858243 27858243 G C SNP HIST1H3J ENST00000359303 human ensembl 74_37 -1 known missense c.328 p.L110V 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3J HGNC ENSG00000197153 75 0 0 66 28 29.7872 HLA-A 0 genome.wustl.edu 37 6 29910607 29910607 + Silent SNP G G C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 6 29910607 29910607 G C SNP HLA-A ENST00000376806 human ensembl 74_37 +1 known silent c.147 p.V49 0.021 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-A HGNC ENSG00000206503 34 0 0 54 7 11.4754 HLA-A 0 genome.wustl.edu 37 6 29910622 29910622 + Silent SNP C C T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 6 29910622 29910622 C T SNP HLA-A ENST00000376806 human ensembl 74_37 +1 known silent c.162 p.D54 1.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-A HGNC ENSG00000206503 34 0 0 52 10 16.129 VARS 0 genome.wustl.edu 37 6 31748259 31748259 + Missense_Mutation SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 6 31748259 31748259 G A SNP VARS ENST00000375663 human ensembl 74_37 -1 known missense c.2884 p.R962C 0.982 superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Valyl-tRNA_ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Glutathione_S-Trfase_N,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_GST_C,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_tRNA-bd_arm,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS HGNC ENSG00000204394 56 0 0 80 17 17.5258 TULP1 0 genome.wustl.edu 37 6 35478785 35478785 + Nonsense_Mutation SNP C C A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 6 35478785 35478785 C A SNP TULP1 ENST00000229771 human ensembl 74_37 -1 known nonsense c.352 p.E118* 0.625 NULL pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C - no_errors TULP1 HGNC ENSG00000112041 107 0 0 129 22 14.5695 TDRD6 0 genome.wustl.edu 37 6 46657864 46657864 + Missense_Mutation SNP A A G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 6 46657864 46657864 A G SNP TDRD6 ENST00000316081 human ensembl 74_37 +1 known missense c.1999 p.K667E 1.000 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 42 0 0 38 14 26.9231 MB21D1 0 genome.wustl.edu 37 6 74161872 74161872 + Silent SNP T T C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 6 74161872 74161872 T C SNP MB21D1 ENST00000370315 human ensembl 74_37 -1 known silent c.33 p.R11 0.000 NULL pfam_Mab-21_dom - no_errors MB21D1 HGNC ENSG00000164430 18 0 0 23 6 20.6897 COL12A1 0 genome.wustl.edu 37 6 75833720 75833720 + Missense_Mutation SNP A A C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 6 75833720 75833720 A C SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.6815 p.V2272G 0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 43 0 0 43 8 15.6863 KIAA1009 0 genome.wustl.edu 37 6 84894937 84894937 + Missense_Mutation SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 6 84894937 84894937 G A SNP KIAA1009 ENST00000403245 human ensembl 74_37 -1 known missense c.1631 p.S544L 0.084 NULL NULL - no_errors KIAA1009 HGNC ENSG00000135315 61 0 0 32 24 42.8571 MMS22L 0 genome.wustl.edu 37 6 97599657 97599657 + Missense_Mutation SNP A A G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 6 97599657 97599657 A G SNP MMS22L ENST00000275053 human ensembl 74_37 -1 known missense c.3472 p.S1158P 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MMS22L HGNC ENSG00000146263 144 0 0 120 16 11.7647 SLC12A9 0 genome.wustl.edu 37 7 100457773 100457773 + Silent SNP C C T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 7 100457773 100457773 C T SNP SLC12A9 ENST00000354161 human ensembl 74_37 +1 known silent c.1137 p.G379 0.027 pfam_AA-permease/SLC12A_dom pfam_AA-permease/SLC12A_dom - no_errors SLC12A9 HGNC ENSG00000146828 106 1 0.934579 80 30 27.2727 RELN 0 genome.wustl.edu 37 7 103338449 103338449 + Missense_Mutation SNP T T A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 7 103338449 103338449 T A SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.994 p.N332Y 0.000 NULL pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 149 0 0 85 60 41.3793 CBLL1 0 genome.wustl.edu 37 7 107399250 107399250 + Missense_Mutation SNP T T C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 7 107399250 107399250 T C SNP CBLL1 ENST00000440859 human ensembl 74_37 +1 known missense c.1103 p.V368A 0.994 NULL pfscan_Znf_RING - no_errors CBLL1 HGNC ENSG00000105879 287 0 0 196 115 36.9775 CFTR 0 genome.wustl.edu 37 7 117292912 117292912 + Missense_Mutation SNP C C G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 7 117292912 117292912 C G SNP CFTR ENST00000003084 human ensembl 74_37 +1 known missense c.3890 p.S1297C 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_cAMP_cl_channel pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel - no_errors CFTR HGNC ENSG00000001626 45 0 0 25 14 35.8974 SLC13A1 0 genome.wustl.edu 37 7 122811949 122811949 + Missense_Mutation SNP C C T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 7 122811949 122811949 C T SNP SLC13A1 ENST00000194130 human ensembl 74_37 -1 known missense c.238 p.A80T 0.991 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A1 HGNC ENSG00000081800 73 0 0 25 20 44.4444 LUC7L2 0 genome.wustl.edu 37 7 139090517 139090517 + Missense_Mutation SNP A A C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 7 139090517 139090517 A C SNP LUC7L2 ENST00000541515 human ensembl 74_37 +1 known missense c.692 p.K231T 1.000 pfam_Luc7-rel pfam_Luc7-rel - no_errors LUC7L2 HGNC ENSG00000269955 42 0 0 22 13 37.1429 TBXAS1 0 genome.wustl.edu 37 7 139706972 139706972 + Missense_Mutation SNP C C A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 7 139706972 139706972 C A SNP TBXAS1 ENST00000416849 human ensembl 74_37 +1 known missense c.1357 p.P453T 0.984 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors TBXAS1 HGNC ENSG00000059377 98 0 0 64 37 36.6337 HTR5A 0 genome.wustl.edu 37 7 154863136 154863136 + Missense_Mutation SNP C C T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 7 154863136 154863136 C T SNP HTR5A ENST00000287907 human ensembl 74_37 +1 known missense c.527 p.P176L 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT5A_rcpt,prints_5HT_rcpt - no_errors HTR5A HGNC ENSG00000157219 56 0 0 39 18 31.5789 FTSJ2 0 genome.wustl.edu 37 7 2274902 2274902 + Missense_Mutation SNP C C T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 7 2274902 2274902 C T SNP FTSJ2 ENST00000242257 human ensembl 74_37 -1 known missense c.596 p.S199N 0.395 pfam_rRNA_MeTrfase_FtsJ_dom,pirsf_rRNA-MeTfrase_E pfam_rRNA_MeTrfase_FtsJ_dom,pirsf_rRNA-MeTfrase_E - no_errors FTSJ2 HGNC ENSG00000122687 81 0 0 39 63 61.7647 PDE1C 0 genome.wustl.edu 37 7 32109917 32109917 + Missense_Mutation SNP C C G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 7 32109917 32109917 C G SNP PDE1C ENST00000321453 human ensembl 74_37 -1 known missense c.89 p.R30P 1.000 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1C HGNC ENSG00000154678 137 0 0 104 11 9.56522 POU6F2 0 genome.wustl.edu 37 7 39125486 39125486 + Missense_Mutation SNP T T G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 7 39125486 39125486 T G SNP POU6F2 ENST00000403058 human ensembl 74_37 +1 known missense c.45 p.S15R 1.000 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU6F2 HGNC ENSG00000106536 29 0 0 35 5 12.5 YKT6 0 genome.wustl.edu 37 7 44244201 44244201 + Missense_Mutation SNP A A T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 7 44244201 44244201 A T SNP YKT6 ENST00000223369 human ensembl 74_37 +1 known missense c.139 p.I47F 1.000 superfamily_Longin-like_dom,pfscan_Longin_dom pfam_Synaptobrevin,superfamily_Longin-like_dom,pfscan_Longin_dom,pfscan_Synaptobrevin - no_errors YKT6 HGNC ENSG00000106636 47 0 0 32 3 8.57143 ABCA13 0 genome.wustl.edu 37 7 48431709 48431709 + Missense_Mutation SNP A A C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 7 48431709 48431709 A C SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.11846 p.K3949T 0.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 77 0 0 27 22 44.898 ZKSCAN1 0 genome.wustl.edu 37 7 99621500 99621500 + Missense_Mutation SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 7 99621500 99621500 G A SNP ZKSCAN1 ENST00000324306 human ensembl 74_37 +1 known missense c.371 p.G124E 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN1 HGNC ENSG00000106261 81 0 0 52 27 34.1772 DLC1 0 genome.wustl.edu 37 8 13356730 13356730 + Missense_Mutation SNP C C T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 8 13356730 13356730 C T SNP DLC1 ENST00000276297 human ensembl 74_37 -1 known missense c.851 p.C284Y 0.980 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 157 0 0 84 1371 94.2268 TOP1MT 0 genome.wustl.edu 37 8 144406731 144406731 + Missense_Mutation SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 8 144406731 144406731 G A SNP TOP1MT ENST00000329245 human ensembl 74_37 -1 known missense c.740 p.T247M 0.892 pfam_TopoI_DNA-bd_euk,superfamily_TopoI_DNA-bd_euk,smart_TopoI_euk pfam_TopoI_DNA-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_DNA-bd_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk,prints_TopoI - no_errors TOP1MT HGNC ENSG00000184428 109 0 0 82 18 18 LRRC24 0 genome.wustl.edu 37 8 145749546 145749546 + Silent SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 8 145749546 145749546 G A SNP LRRC24 ENST00000529415 human ensembl 74_37 -1 known silent c.555 p.I185 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC24 HGNC ENSG00000254402 161 1 0.617284 107 36 25.1748 MTUS1 0 genome.wustl.edu 37 8 17570732 17570732 + Missense_Mutation SNP G G C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 8 17570732 17570732 G C SNP MTUS1 ENST00000262102 human ensembl 74_37 -1 known missense c.2614 p.L872V 0.162 NULL superfamily_Ferritin-like_SF - no_errors MTUS1 HGNC ENSG00000129422 114 0 0 464 28 5.69106 ATP6V1B2 0 genome.wustl.edu 37 8 20055041 20055041 + Missense_Mutation SNP C C G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 8 20055041 20055041 C G SNP ATP6V1B2 ENST00000276390 human ensembl 74_37 +1 known missense c.124 p.Q42E 1.000 NULL pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu - no_errors ATP6V1B2 HGNC ENSG00000147416 11 0 0 3 4 57.1429 CSMD1 0 genome.wustl.edu 37 8 2966175 2966175 + Missense_Mutation SNP T T G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 8 2966175 2966175 T G SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.6707 p.K2236T 0.991 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 26 0 0 16 7 30.4348 KCNU1 0 genome.wustl.edu 37 8 36766874 36766874 + Missense_Mutation SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 8 36766874 36766874 G A SNP KCNU1 ENST00000399881 human ensembl 74_37 +1 known missense c.2152 p.A718T 0.965 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu - no_errors KCNU1 HGNC ENSG00000215262 267 0 0 170 25 12.8205 SNTG1 0 genome.wustl.edu 37 8 51314780 51314780 + Missense_Mutation SNP G G T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 8 51314780 51314780 G T SNP SNTG1 ENST00000518864 human ensembl 74_37 +1 known missense c.38 p.G13V 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTG1 HGNC ENSG00000147481 51 0 0 47 11 18.9655 PREX2 0 genome.wustl.edu 37 8 69002838 69002838 + Missense_Mutation SNP T T G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 8 69002838 69002838 T G SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.2138 p.L713R 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 46 0 0 57 6 9.52381 TMEM70 0 genome.wustl.edu 37 8 74893615 74893615 + Missense_Mutation SNP C C T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 8 74893615 74893615 C T SNP TMEM70 ENST00000312184 human ensembl 74_37 +1 known missense c.542 p.A181V 1.000 pfam_DUF1301_TMEM70 pfam_DUF1301_TMEM70 - no_errors TMEM70 HGNC ENSG00000175606 96 0 0 58 19 24.6753 SVEP1 0 genome.wustl.edu 37 9 113170371 113170371 + Missense_Mutation SNP C C G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 9 113170371 113170371 C G SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known missense c.7509 p.E2503D 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 25 0 0 27 5 15.625 COL27A1 0 genome.wustl.edu 37 9 116931258 116931258 + Missense_Mutation SNP C C T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 9 116931258 116931258 C T SNP COL27A1 ENST00000356083 human ensembl 74_37 +1 known missense c.1423 p.R475C 0.006 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC ENSG00000196739 259 0 0 342 40 10.4712 ASTN2 0 genome.wustl.edu 37 9 119976963 119976963 + Missense_Mutation SNP T T C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 9 119976963 119976963 T C SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.689 p.Q230R 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 53 0 0 48 17 26.1538 PTGS1 0 genome.wustl.edu 37 9 125140225 125140225 + Missense_Mutation SNP C C T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 9 125140225 125140225 C T SNP PTGS1 ENST00000362012 human ensembl 74_37 +1 known missense c.142 p.R48C 1.000 pfscan_EG-like_dom pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors PTGS1 HGNC ENSG00000095303 64 0 0 65 26 28.5714 ZNF79 0 genome.wustl.edu 37 9 130206601 130206601 + Missense_Mutation SNP C C G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 9 130206601 130206601 C G SNP ZNF79 ENST00000342483 human ensembl 74_37 +1 known missense c.622 p.L208V 0.162 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF79 HGNC ENSG00000196152 97 0 0 117 16 12.0301 NUP188 0 genome.wustl.edu 37 9 131757647 131757647 + Missense_Mutation SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 9 131757647 131757647 G A SNP NUP188 ENST00000372577 human ensembl 74_37 +1 known missense c.3205 p.E1069K 0.992 NULL pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 109 0 0 82 17 17.1717 TOR1B 0 genome.wustl.edu 37 9 132571733 132571733 + Silent SNP C C A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 9 132571733 132571733 C A SNP TOR1B ENST00000259339 human ensembl 74_37 +1 known silent c.882 p.A294 1.000 superfamily_P-loop_NTPase,pirsf_Torsin_subgr pfam_Torsin,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,pirsf_Torsin_subgr - no_errors TOR1B HGNC ENSG00000136816 74 0 0 81 19 19 MRPS2 0 genome.wustl.edu 37 9 138395577 138395577 + Silent SNP C C T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 9 138395577 138395577 C T SNP MRPS2 ENST00000241600 human ensembl 74_37 +1 known silent c.489 p.G163 0.718 pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2 pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2 - no_errors MRPS2 HGNC ENSG00000122140 44 0 0 41 17 29.3103 TUBBP5 0 genome.wustl.edu 37 9 141070695 141070695 + RNA SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 9 141070695 141070695 G A SNP TUBBP5 ENST00000290377 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors TUBBP5 HGNC ENSG00000159247 8 0 0 23 5 17.8571 LINGO2 0 genome.wustl.edu 37 9 27950090 27950090 + Missense_Mutation SNP T T C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 9 27950090 27950090 T C SNP LINGO2 ENST00000308675 human ensembl 74_37 -1 known missense c.580 p.T194A 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO2 HGNC ENSG00000174482 56 0 0 52 8 13.3333 SPATA31A6 0 genome.wustl.edu 37 9 43627226 43627226 + Silent SNP G G T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 9 43627226 43627226 G T SNP SPATA31A6 ENST00000332857 human ensembl 74_37 -1 known silent c.1461 p.P487 0.002 NULL NULL - no_errors SPATA31A6 HGNC ENSG00000185775 453 0 0 417 126 23.2044 VPS13A 0 genome.wustl.edu 37 9 79836216 79836216 + Missense_Mutation SNP T T C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 9 79836216 79836216 T C SNP VPS13A ENST00000360280 human ensembl 74_37 +1 known missense c.1105 p.Y369H 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 78 0 0 49 27 35.5263 IARS 0 genome.wustl.edu 37 9 95003104 95003104 + RNA SNP A A G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 9 95003104 95003104 A G SNP IARS ENST00000473915 human ensembl 74_37 -1 known rna NULL NULL 0.011 - - - no_errors IARS HGNC ENSG00000196305 8 0 0 11 8 42.1053 ZNF169 0 genome.wustl.edu 37 9 97062730 97062730 + Missense_Mutation SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 9 97062730 97062730 G A SNP ZNF169 ENST00000395395 human ensembl 74_37 +1 known missense c.890 p.R297Q 0.030 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 ZNF169 HGNC ENSG00000175787 79 0 0 92 37 28.6822 NOX1 0 genome.wustl.edu 37 X 100106242 100106242 + Missense_Mutation SNP G G T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d X 100106242 100106242 G T SNP NOX1 ENST00000372966 human ensembl 74_37 -1 known missense c.877 p.Q293K 1.000 superfamily_Riboflavin_synthase-like_b-brl pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX1 HGNC ENSG00000007952 12 0 0 7 6 46.1538 NRK 0 genome.wustl.edu 37 X 105153261 105153261 + Missense_Mutation SNP A A C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d X 105153261 105153261 A C SNP NRK ENST00000428173 human ensembl 74_37 +1 known missense c.1631 p.N544T 0.009 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors NRK HGNC ENSG00000123572 12 0 0 16 8 33.3333 TMEM164 0 genome.wustl.edu 37 X 109247079 109247079 + Missense_Mutation SNP G G T TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d X 109247079 109247079 G T SNP TMEM164 ENST00000372068 human ensembl 74_37 +1 known missense c.77 p.G26V 1.000 NULL NULL - no_errors TMEM164 HGNC ENSG00000157600 86 0 0 93 16 14.6789 HTR2C 0 genome.wustl.edu 37 X 114141192 114141192 + Missense_Mutation SNP A A C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d X 114141192 114141192 A C SNP HTR2C ENST00000276198 human ensembl 74_37 +1 known missense c.591 p.E197D 0.004 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2C_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2C HGNC ENSG00000147246 74 0 0 67 27 28.7234 OCRL 0 genome.wustl.edu 37 X 128695194 128695194 + Missense_Mutation SNP A A C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d X 128695194 128695194 A C SNP OCRL ENST00000371113 human ensembl 74_37 +1 known missense c.863 p.Y288S 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors OCRL HGNC ENSG00000122126 73 0 0 72 24 25 ARHGAP36 0 genome.wustl.edu 37 X 130217933 130217933 + Missense_Mutation SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d X 130217933 130217933 G A SNP ARHGAP36 ENST00000276211 human ensembl 74_37 +1 known missense c.545 p.R182H 0.999 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP36 HGNC ENSG00000147256 22 0 0 14 9 39.1304 F8 0 genome.wustl.edu 37 X 154159499 154159499 + Missense_Mutation SNP A A C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d X 154159499 154159499 A C SNP F8 ENST00000360256 human ensembl 74_37 -1 known missense c.2566 p.F856V 0.001 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 27 0 0 21 10 32.2581 ZNF645 0 genome.wustl.edu 37 X 22292332 22292332 + Silent SNP A A C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d X 22292332 22292332 A C SNP ZNF645 ENST00000323684 human ensembl 74_37 +1 known silent c.1224 p.S408 0.000 NULL pfscan_Znf_RING,pfscan_Znf_C2H2 - no_errors ZNF645 HGNC ENSG00000175809 52 0 0 37 21 36.2069 DMD 0 genome.wustl.edu 37 X 32430014 32430014 + Missense_Mutation SNP T T C TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d X 32430014 32430014 T C SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.4088 p.K1363R 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 15 0 0 7 6 46.1538 FAM47A 0 genome.wustl.edu 37 X 34149499 34149499 + Silent SNP C C A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d X 34149499 34149499 C A SNP FAM47A ENST00000346193 human ensembl 74_37 -1 known silent c.897 p.G299 0.085 NULL NULL - no_errors FAM47A HGNC ENSG00000185448 20 0 0 20 7 25.9259 AKAP4 0 genome.wustl.edu 37 X 49958929 49958929 + Silent SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d X 49958929 49958929 G A SNP AKAP4 ENST00000358526 human ensembl 74_37 -1 known silent c.435 p.G145 0.000 smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP4 HGNC ENSG00000147081 30 0 0 10 15 60 COX7B 0 genome.wustl.edu 37 X 77158163 77158163 + Missense_Mutation SNP G G A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d X 77158163 77158163 G A SNP COX7B ENST00000481445 human ensembl 74_37 +1 known missense c.64 p.A22T 0.991 pfam_Cyt_c_oxidase_suVIIB pfam_Cyt_c_oxidase_suVIIB,superfamily_Cyt_c_oxidase_suVIIB_dom - no_errors COX7B HGNC ENSG00000131174 35 0 0 24 6 20 SLC9C2 0 genome.wustl.edu 37 1 173556952 173556953 + Frame_Shift_Ins INS - - A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 1 173556952 173556953 - A INS SLC9C2 ENST00000367714 human ensembl 74_37 -1 known frame_shift_ins c.375_374 p.L125fs 0.000:0.002 pfam_Cation/H_exchanger pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC ENSG00000162753 56 0 0 36 8 18.1818 DOCK1 0 genome.wustl.edu 37 10 129202588 129202589 + Frame_Shift_Ins INS - - A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 10 129202588 129202589 - A INS DOCK1 ENST00000280333 human ensembl 74_37 +1 known frame_shift_ins c.3956_3955 p.Q1321fs 1.000:1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC ENSG00000150760 26 0 0 12 8 40 TBX3 0 genome.wustl.edu 37 12 115114134 115114134 + Frame_Shift_Del DEL C C - TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 12 115114134 115114134 C - DEL TBX3 ENST00000257566 human ensembl 74_37 -1 known frame_shift_del c.1083 p.T362fs 0.999 pfam_TBX pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX3 HGNC ENSG00000135111 72 0 0 52 30 36.5854 PRKAB1 0 genome.wustl.edu 37 12 120110200 120110201 + Frame_Shift_Ins INS - - G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 12 120110200 120110201 - G INS PRKAB1 ENST00000229328 human ensembl 74_37 +1 known frame_shift_ins c.254_255 p.G88fs 1.000:0.166 superfamily_Ig_E-set pfam_AMP_prot_kin_bsu_interact-dom,superfamily_Ig_E-set - no_errors PRKAB1 HGNC ENSG00000111725 181 0 0 113 51 31.0976 ATXN3 0 genome.wustl.edu 37 14 92549604 92549605 + Splice_Site INS - - A TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 14 92549604 92549605 - A INS ATXN3 ENST00000545170 human ensembl 74_37 -1 known splice_site_ins c.476-3_476-2 e7-2 1.000:0.992 - - - no_errors ATXN3 HGNC ENSG00000066427 21 0 0 28 3 9.67742 LOC101927079 0 genome.wustl.edu 37 15 22332418 22332419 + RNA INS - - G TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 15 22332418 22332419 - G INS LOC101927079 ENST00000558896 human ensembl 74_37 +1 known rna NULL NULL 0.134:0.012 - - - no_errors RP11-69H14.6 Clone_based_vega_gene ENSG00000259176 51 0 0 33 6 15.3846 RAI1 0 genome.wustl.edu 37 17 17699215 17699215 + Frame_Shift_Del DEL C C - TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 17 17699215 17699215 C - DEL RAI1 ENST00000353383 human ensembl 74_37 +1 known frame_shift_del c.2953 p.I986fs 0.001 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 30 0 0 19 2 9.52381 ZNF492 0 genome.wustl.edu 37 19 22846646 22846646 + Frame_Shift_Del DEL A A - TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 19 22846646 22846646 A - DEL ZNF492 ENST00000456783 human ensembl 74_37 +1 known frame_shift_del c.175 p.N61fs 0.001 NULL pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF492 HGNC ENSG00000229676 28 0 0 16 3 15.7895 FN1 0 genome.wustl.edu 37 2 216238071 216238071 + Frame_Shift_Del DEL T T - TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 2 216238071 216238071 T - DEL FN1 ENST00000354785 human ensembl 74_37 -1 known frame_shift_del c.6221 p.E2074fs 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 152 0 0 74 34 31.4815 RBM5 0 genome.wustl.edu 37 3 50155888 50155889 + Frame_Shift_Del DEL GA GA - TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 3 50155888 50155889 GA - DEL RBM5 ENST00000347869 human ensembl 74_37 +1 known frame_shift_del c.2447_2448 p.*816fs 1.000:0.999 NULL pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM5 HGNC ENSG00000003756 20 0 0 17 2 10.5263 VPS13B 0 genome.wustl.edu 37 8 100108564 100108564 + Frame_Shift_Del DEL A A - TCGA-BR-8289-01A-11D-2340-08 TCGA-BR-8289-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40818d57-8b27-494c-b964-e2d5c25fc89a 9adabd0d-8d21-4b18-8c22-09bc808d1d5d 8 100108564 100108564 A - DEL VPS13B ENST00000358544 human ensembl 74_37 +1 known frame_shift_del c.316 p.N106fs 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 73 0 0 19 2 9.52381