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 COL11A1 0 genome.wustl.edu 37 1 103345385 103345385 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 1 103345385 103345385 A C SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.5164 p.F1722V 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 82 0 0 65 8 10.9589 CELSR2 0 genome.wustl.edu 37 1 109794410 109794410 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 1 109794410 109794410 G A SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known missense c.1709 p.R570Q 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 50 0 0 51 7 12.069 SMG5 0 genome.wustl.edu 37 1 156246933 156246933 + Missense_Mutation SNP A A T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 1 156246933 156246933 A T SNP SMG5 ENST00000361813 human ensembl 74_37 -1 known missense c.397 p.Y133N 1.000 pfam_EST1 pfam_EST1,smart_PIN_dom - no_errors SMG5 HGNC ENSG00000198952 75 0 0 58 4 6.45161 CD1E 0 genome.wustl.edu 37 1 158324361 158324361 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 1 158324361 158324361 T G SNP CD1E ENST00000368167 human ensembl 74_37 +1 known missense c.253 p.F85V 0.879 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1E HGNC ENSG00000158488 51 0 0 42 4 8.69565 OR10Z1 0 genome.wustl.edu 37 1 158576489 158576489 + Silent SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 1 158576489 158576489 G A SNP OR10Z1 ENST00000361284 human ensembl 74_37 +1 known silent c.261 p.G87 0.001 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_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10Z1 HGNC ENSG00000198967 311 1 0.320513 257 31 10.7639 CLCNKB 0 genome.wustl.edu 37 1 16377482 16377482 + Nonsense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 1 16377482 16377482 G A SNP CLCNKB ENST00000375679 human ensembl 74_37 +1 known nonsense c.1166 p.W389* 0.002 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-K - no_errors CLCNKB HGNC ENSG00000184908 78 0 0 92 9 8.91089 EPHA2 0 genome.wustl.edu 37 1 16464906 16464906 + Missense_Mutation SNP A A T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 1 16464906 16464906 A T SNP EPHA2 ENST00000358432 human ensembl 74_37 -1 known missense c.843 p.F281L 1.000 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,pfam_Interferon_alpha/beta_rcpt_bsu,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 EPHA2 HGNC ENSG00000142627 56 0 0 50 8 13.7931 CROCCP2 0 genome.wustl.edu 37 1 16946407 16946407 + RNA SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 1 16946407 16946407 T G SNP CROCCP2 ENST00000412962 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CROCCP2 HGNC ENSG00000215908 27 0 0 21 3 12.5 PTPRC 0 genome.wustl.edu 37 1 198711490 198711490 + Missense_Mutation SNP A A T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 1 198711490 198711490 A T SNP PTPRC ENST00000442510 human ensembl 74_37 +1 known missense c.2691 p.Q897H 1.000 pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 136 0 0 101 12 10.6195 FMOD 0 genome.wustl.edu 37 1 203311556 203311556 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 1 203311556 203311556 C T SNP FMOD ENST00000354955 human ensembl 74_37 -1 known missense c.1046 p.R349H 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors FMOD HGNC ENSG00000122176 50 0 0 39 7 15.2174 RAB3GAP2 0 genome.wustl.edu 37 1 220345380 220345380 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 1 220345380 220345380 C T SNP RAB3GAP2 ENST00000358951 human ensembl 74_37 -1 known missense c.2428 p.E810K 1.000 NULL superfamily_WD40_repeat_dom - no_errors RAB3GAP2 HGNC ENSG00000118873 53 0 0 36 12 25 ERO1LB 0 genome.wustl.edu 37 1 236399099 236399099 + Silent SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 1 236399099 236399099 C T SNP ERO1LB ENST00000354619 human ensembl 74_37 -1 known silent c.663 p.A221 0.880 pfam_Ero1,pirsf_Ero1 pfam_Ero1,pirsf_Ero1 - no_errors ERO1LB HGNC ENSG00000086619 77 0 0 61 8 11.5942 FMN2 0 genome.wustl.edu 37 1 240256759 240256759 + Silent SNP C C A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 1 240256759 240256759 C A SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known silent c.1350 p.S450 0.133 NULL pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 79 0 0 63 8 11.2676 FMN2 0 genome.wustl.edu 37 1 240555824 240555824 + Silent SNP A A G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 1 240555824 240555824 A G SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known silent c.4872 p.Q1624 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 118 0 0 136 18 11.6883 CLIC4 0 genome.wustl.edu 37 1 25124240 25124240 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 1 25124240 25124240 G A SNP CLIC4 ENST00000374379 human ensembl 74_37 +1 known missense c.80 p.S27N 1.000 superfamily_Thioredoxin-like_fold,tigrfam_Int_Cl_channel superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel - no_errors CLIC4 HGNC ENSG00000169504 107 0 0 104 8 7.14286 SPOCD1 0 genome.wustl.edu 37 1 32265646 32265646 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 1 32265646 32265646 C T SNP SPOCD1 ENST00000360482 human ensembl 74_37 -1 known missense c.1699 p.D567N 0.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,superfamily_TFIIS_cen_dom,smart_TFS2M - no_errors SPOCD1 HGNC ENSG00000134668 44 0 0 39 8 17.0213 TRIT1 0 genome.wustl.edu 37 1 40307584 40307584 + Silent SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 1 40307584 40307584 C T SNP TRIT1 ENST00000316891 human ensembl 74_37 -1 known silent c.1236 p.A412 0.842 pfam_Znf_C2H2_jaz,smart_Znf_U1 pfam_IPPT,pfam_Isopentenyl_transferase,pfam_Znf_C2H2_jaz,superfamily_P-loop_NTPase,smart_Znf_U1,tigrfam_tRNA_delta_PyrP_Trfase - no_errors TRIT1 HGNC ENSG00000043514 89 0 0 68 6 8.10811 CYP4A22 0 genome.wustl.edu 37 1 47609043 47609043 + Nonsense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 1 47609043 47609043 C T SNP CYP4A22 ENST00000371891 human ensembl 74_37 +1 known nonsense c.613 p.Q205* 0.180 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-II pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV - no_errors CYP4A22 HGNC ENSG00000162365 89 0 0 63 12 16 FAM159A 0 genome.wustl.edu 37 1 53099190 53099190 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 1 53099190 53099190 G A SNP FAM159A ENST00000517870 human ensembl 74_37 +1 known missense c.25 p.V9M 0.997 NULL NULL - no_errors FAM159A HGNC ENSG00000182183 10 0 0 6 3 33.3333 LRRIQ3 0 genome.wustl.edu 37 1 74507160 74507160 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 1 74507160 74507160 T G SNP LRRIQ3 ENST00000354431 human ensembl 74_37 -1 known missense c.1455 p.Q485H 0.001 NULL pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ3 HGNC ENSG00000162620 175 0 0 152 21 12.1387 ELTD1 0 genome.wustl.edu 37 1 79392711 79392711 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 1 79392711 79392711 A C SNP ELTD1 ENST00000370742 human ensembl 74_37 -1 known missense c.943 p.F315V 0.002 pfam_DUF3497 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 87 0 0 98 11 10.0917 ELTD1 0 genome.wustl.edu 37 1 79403793 79403793 + Missense_Mutation SNP T T A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 1 79403793 79403793 T A SNP ELTD1 ENST00000370742 human ensembl 74_37 -1 known missense c.568 p.T190S 1.000 pfam_DUF3497 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 83 0 0 56 8 12.5 LPHN2 0 genome.wustl.edu 37 1 82416057 82416057 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 1 82416057 82416057 T G SNP LPHN2 ENST00000370717 human ensembl 74_37 +1 known missense c.1383 p.I461M 1.000 NULL pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors LPHN2 HGNC ENSG00000117114 44 0 0 48 4 7.69231 CLCA3P 0 genome.wustl.edu 37 1 87108241 87108241 + RNA SNP T T C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 1 87108241 87108241 T C SNP CLCA3P ENST00000284054 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CLCA3P HGNC ENSG00000153923 49 0 0 29 5 14.7059 HFM1 0 genome.wustl.edu 37 1 91851178 91851178 + Missense_Mutation SNP G G T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 1 91851178 91851178 G T SNP HFM1 ENST00000370425 human ensembl 74_37 -1 known missense c.708 p.F236L 0.080 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC ENSG00000162669 56 0 0 50 11 18.0328 PYROXD2 0 genome.wustl.edu 37 10 100150465 100150465 + Silent SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 10 100150465 100150465 G A SNP PYROXD2 ENST00000370575 human ensembl 74_37 -1 known silent c.1182 p.P394 0.000 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase - no_errors PYROXD2 HGNC ENSG00000119943 30 0 0 33 4 10.8108 HPS1 0 genome.wustl.edu 37 10 100179892 100179892 + Silent SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 10 100179892 100179892 C T SNP HPS1 ENST00000325103 human ensembl 74_37 -1 known silent c.1767 p.A589 0.007 NULL NULL - no_errors HPS1 HGNC ENSG00000107521 136 0 0 118 15 11.2782 PLXDC2 0 genome.wustl.edu 37 10 20465939 20465939 + Silent SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 10 20465939 20465939 A C SNP PLXDC2 ENST00000377252 human ensembl 74_37 +1 known silent c.895 p.R299 1.000 NULL pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold - no_errors PLXDC2 HGNC ENSG00000120594 169 0 0 137 15 9.86842 GPR158 0 genome.wustl.edu 37 10 25701388 25701388 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 10 25701388 25701388 T G SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known missense c.1321 p.F441V 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 187 0 0 136 30 18.0723 GPR158 0 genome.wustl.edu 37 10 25886999 25886999 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 10 25886999 25886999 A C SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known missense c.2444 p.K815T 1.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 118 0 0 97 16 14.1593 ARMC4 0 genome.wustl.edu 37 10 28250600 28250600 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 10 28250600 28250600 G A SNP ARMC4 ENST00000305242 human ensembl 74_37 -1 known missense c.1283 p.S428L 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ENSG00000169126 59 0 0 52 8 13.3333 CDH23 0 genome.wustl.edu 37 10 73544140 73544140 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 10 73544140 73544140 G A SNP CDH23 ENST00000224721 human ensembl 74_37 +1 putative missense c.5480 p.C1827Y 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 105 0 0 65 8 10.9589 ZNF503 0 genome.wustl.edu 37 10 77158820 77158820 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 10 77158820 77158820 G A SNP ZNF503 ENST00000372524 human ensembl 74_37 -1 known missense c.1628 p.T543M 1.000 pfscan_Znf_C2H2 pfam_Tscrpt_rep_NocA-like,pfscan_Znf_C2H2 - no_errors ZNF503 HGNC ENSG00000165655 43 0 0 33 3 8.33333 DYNC2H1 0 genome.wustl.edu 37 11 103058272 103058272 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 11 103058272 103058272 T G SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.7097 p.L2366R 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 92 0 0 78 21 21.2121 RAB39A 0 genome.wustl.edu 37 11 107832831 107832831 + Silent SNP T T C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 11 107832831 107832831 T C SNP RAB39A ENST00000320578 human ensembl 74_37 +1 known silent c.387 p.C129 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB39A HGNC ENSG00000179331 55 0 0 69 11 13.75 LUZP2 0 genome.wustl.edu 37 11 25071622 25071622 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 11 25071622 25071622 A C SNP LUZP2 ENST00000336930 human ensembl 74_37 +1 known missense c.804 p.Q268H 0.018 NULL NULL - no_errors LUZP2 HGNC ENSG00000187398 106 0 0 97 11 10.1852 DCDC1 0 genome.wustl.edu 37 11 31349807 31349807 + Silent SNP T T C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 11 31349807 31349807 T C SNP DCDC1 ENST00000452803 human ensembl 74_37 -1 known silent c.21 p.E7 0.057 NULL pfscan_Doublecortin_dom - no_errors DCDC1 HGNC ENSG00000170959 91 0 0 58 13 18.3099 API5 0 genome.wustl.edu 37 11 43352073 43352073 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 11 43352073 43352073 G A SNP API5 ENST00000531273 human ensembl 74_37 +1 known missense c.1237 p.V413I 1.000 pfam_API5,superfamily_ARM-type_fold pfam_API5,superfamily_ARM-type_fold - no_errors API5 HGNC ENSG00000166181 102 0 0 111 9 7.5 OR51A7 0 genome.wustl.edu 37 11 4928970 4928970 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 11 4928970 4928970 T G SNP OR51A7 ENST00000359350 human ensembl 74_37 +1 known missense c.371 p.L124R 0.990 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR51A7 HGNC ENSG00000176895 126 0 0 86 29 25.2174 OR4A5 0 genome.wustl.edu 37 11 51412117 51412117 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 11 51412117 51412117 T G SNP OR4A5 ENST00000319760 human ensembl 74_37 -1 known missense c.279 p.Q93H 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 OR4A5 HGNC ENSG00000221840 70 0 0 49 11 18.3333 TRIM51 0 genome.wustl.edu 37 11 55657447 55657447 + Missense_Mutation SNP A A T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 11 55657447 55657447 A T SNP TRIM51 ENST00000449290 human ensembl 74_37 +1 known missense c.791 p.E264V 0.001 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM51 HGNC ENSG00000124900 49 0 0 44 6 12 OR5W2 0 genome.wustl.edu 37 11 55681965 55681965 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 11 55681965 55681965 A C SNP OR5W2 ENST00000344514 human ensembl 74_37 -1 known missense c.94 p.L32V 0.017 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5W2 HGNC ENSG00000187612 77 0 0 50 8 13.7931 OR52E8 0 genome.wustl.edu 37 11 5878173 5878173 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 11 5878173 5878173 A C SNP OR52E8 ENST00000537935 human ensembl 74_37 -1 known missense c.760 p.L254V 0.978 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52E8 HGNC ENSG00000183269 117 0 0 117 12 9.30233 OR56A4 0 genome.wustl.edu 37 11 6023384 6023384 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 11 6023384 6023384 T G SNP OR56A4 ENST00000330728 human ensembl 74_37 -1 known missense c.995 p.N332T 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR56A4 HGNC ENSG00000183389 78 0 0 52 10 16.129 FAT3 0 genome.wustl.edu 37 11 92533859 92533859 + Silent SNP G G T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 11 92533859 92533859 G T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known silent c.7680 p.R2560 0.809 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 38 0 0 33 10 23.2558 CLEC2B 0 genome.wustl.edu 37 12 10007076 10007076 + Missense_Mutation SNP A A G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 12 10007076 10007076 A G SNP CLEC2B ENST00000228438 human ensembl 74_37 -1 known missense c.245 p.L82P 0.090 pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC2B HGNC ENSG00000110852 74 0 0 63 9 12.5 KCNJ8 0 genome.wustl.edu 37 12 21919280 21919280 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 12 21919280 21919280 T G SNP KCNJ8 ENST00000240662 human ensembl 74_37 -1 known missense c.652 p.S218R 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.1 - no_errors KCNJ8 HGNC ENSG00000121361 147 0 0 122 19 13.4752 CMAS 0 genome.wustl.edu 37 12 22218129 22218129 + Missense_Mutation SNP G G T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 12 22218129 22218129 G T SNP CMAS ENST00000229329 human ensembl 74_37 +1 known missense c.1189 p.A397S 0.996 superfamily_HAD-like_dom pfam_Cytidylyl_trans,superfamily_HAD-like_dom - no_errors CMAS HGNC ENSG00000111726 268 0 0 237 38 13.8182 FAR2 0 genome.wustl.edu 37 12 29449959 29449959 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 12 29449959 29449959 C T SNP FAR2 ENST00000182377 human ensembl 74_37 +1 known missense c.371 p.A124V 0.999 pfam_Male_sterile_NAD-bd,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like pfam_Male_sterile_NAD-bd,pfam_FAR,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like - no_errors FAR2 HGNC ENSG00000064763 220 0 0 168 24 12.5 TESPA1 0 genome.wustl.edu 37 12 55356738 55356738 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 12 55356738 55356738 A C SNP TESPA1 ENST00000316577 human ensembl 74_37 -1 known missense c.944 p.V315G 1.000 NULL NULL - no_errors TESPA1 HGNC ENSG00000135426 62 0 0 73 8 9.87654 CHD4 0 genome.wustl.edu 37 12 6702658 6702658 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 12 6702658 6702658 C T SNP CHD4 ENST00000309577 human ensembl 74_37 -1 known missense c.2438 p.R813H 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,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,superfamily_Homeodomain-like,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 CHD4 HGNC ENSG00000111642 218 0 0 172 20 10.4167 LAG3 0 genome.wustl.edu 37 12 6883914 6883914 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 12 6883914 6883914 C T SNP LAG3 ENST00000203629 human ensembl 74_37 +1 known missense c.665 p.A222V 0.000 smart_Ig_sub,pfscan_Ig-like_dom smart_Ig_sub,pfscan_Ig-like_dom - no_errors LAG3 HGNC ENSG00000089692 93 0 0 57 6 9.52381 C12orf55 0 genome.wustl.edu 37 12 97045576 97045576 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 12 97045576 97045576 A C SNP C12orf55 ENST00000524981 human ensembl 74_37 +1 putative missense c.5083 p.N1695H 0.047 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 37 0 0 38 6 13.6364 NALCN 0 genome.wustl.edu 37 13 101710377 101710377 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 13 101710377 101710377 G A SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.4937 p.T1646M 1.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 99 0 0 97 7 6.73077 NBEA 0 genome.wustl.edu 37 13 36141109 36141109 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 13 36141109 36141109 A C SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.6990 p.E2330D 0.999 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 135 0 0 141 18 11.3208 CCNA1 0 genome.wustl.edu 37 13 37012812 37012812 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 13 37012812 37012812 A C SNP CCNA1 ENST00000255465 human ensembl 74_37 +1 known missense c.701 p.K234T 0.794 pfam_Cyclin_N,superfamily_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNA1 HGNC ENSG00000133101 61 0 0 57 6 9.52381 SMAD9 0 genome.wustl.edu 37 13 37453530 37453530 + Silent SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 13 37453530 37453530 C T SNP SMAD9 ENST00000379826 human ensembl 74_37 -1 known silent c.297 p.P99 0.001 pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1 pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD9 HGNC ENSG00000120693 39 0 0 58 7 10.7692 TRPC4 0 genome.wustl.edu 37 13 38229268 38229268 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 13 38229268 38229268 T G SNP TRPC4 ENST00000379681 human ensembl 74_37 -1 known missense c.1841 p.N614T 1.000 pfam_Ion_trans_dom,prints_TRPC_channel,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC4 HGNC ENSG00000133107 45 0 0 29 5 14.7059 ZC3H13 0 genome.wustl.edu 37 13 46554086 46554086 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 13 46554086 46554086 A C SNP ZC3H13 ENST00000242848 human ensembl 74_37 -1 known missense c.1774 p.Y592D 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 116 0 0 95 7 6.86275 KIAA0226L 0 genome.wustl.edu 37 13 46946186 46946186 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 13 46946186 46946186 G A SNP KIAA0226L ENST00000389908 human ensembl 74_37 -1 known missense c.425 p.S142F 0.000 NULL NULL - no_errors KIAA0226L HGNC ENSG00000102445 54 0 0 63 8 11.2676 PCDH9 0 genome.wustl.edu 37 13 66878826 66878826 + Silent SNP T T C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 13 66878826 66878826 T C SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known silent c.3675 p.A1225 0.998 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 105 0 0 92 5 5.15464 SLITRK6 0 genome.wustl.edu 37 13 86368894 86368894 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 13 86368894 86368894 C T SNP SLITRK6 ENST00000400286 human ensembl 74_37 -1 known missense c.1750 p.V584I 0.995 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK6 HGNC ENSG00000184564 102 0 0 103 14 11.9658 GPC6 0 genome.wustl.edu 37 13 93879749 93879749 + Missense_Mutation SNP G G C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 13 93879749 93879749 G C SNP GPC6 ENST00000377047 human ensembl 74_37 +1 known missense c.40 p.G14R 1.000 NULL pfam_Glypican - no_errors GPC6 HGNC ENSG00000183098 98 0 0 83 5 5.68182 MYH6 0 genome.wustl.edu 37 14 23874326 23874326 + Silent SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 14 23874326 23874326 G A SNP MYH6 ENST00000356287 human ensembl 74_37 -1 known silent c.513 p.N171 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 102 0 0 76 7 8.43373 NOVA1 0 genome.wustl.edu 37 14 26918125 26918125 + Silent SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 14 26918125 26918125 C T SNP NOVA1 ENST00000539517 human ensembl 74_37 -1 known silent c.564 p.G188 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors NOVA1 HGNC ENSG00000139910 175 0 0 140 17 10.828 SNRPN 0 genome.wustl.edu 37 15 25220656 25220656 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 15 25220656 25220656 A C SNP SNRPN ENST00000444203 human ensembl 74_37 +1 known missense c.167 p.K56T 1.000 pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN - no_errors SNRPN HGNC ENSG00000128739 86 0 0 99 16 13.913 SNORD115-42 0 genome.wustl.edu 37 15 25492563 25492563 + RNA SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 15 25492563 25492563 C T SNP SNORD115-42 ENST00000364273 human ensembl 74_37 +1 known rna NULL NULL 0.991 - - - no_errors SNORD115-42 HGNC ENSG00000201143 325 0 0 300 24 7.40741 GABRA5 0 genome.wustl.edu 37 15 27128556 27128556 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 15 27128556 27128556 C T SNP GABRA5 ENST00000335625 human ensembl 74_37 +1 known missense c.349 p.R117C 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABAAa_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_GABBAa5_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA5 HGNC ENSG00000186297 136 1 0.729927 99 16 13.913 RYR3 0 genome.wustl.edu 37 15 33905387 33905387 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 15 33905387 33905387 G A SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.2168 p.R723Q 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 31 0 0 12 3 20 RPUSD2 0 genome.wustl.edu 37 15 40866003 40866003 + Nonsense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 15 40866003 40866003 G A SNP RPUSD2 ENST00000315616 human ensembl 74_37 +1 known nonsense c.1181 p.W394* 1.000 superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_RluC/D pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_RluC/D - no_errors RPUSD2 HGNC ENSG00000166133 76 0 0 52 10 16.129 SECISBP2L 0 genome.wustl.edu 37 15 49325260 49325260 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 15 49325260 49325260 G A SNP SECISBP2L ENST00000559471 human ensembl 74_37 -1 known missense c.566 p.P189L 1.000 NULL pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors SECISBP2L HGNC ENSG00000138593 90 0 0 80 11 12.0879 RASGRF1 0 genome.wustl.edu 37 15 79356827 79356827 + Silent SNP G G T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 15 79356827 79356827 G T SNP RASGRF1 ENST00000419573 human ensembl 74_37 -1 known silent c.318 p.A106 0.774 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF1 HGNC ENSG00000058335 242 0 0 143 18 11.1801 IL21R 0 genome.wustl.edu 37 16 27460390 27460390 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 16 27460390 27460390 G A SNP IL21R ENST00000337929 human ensembl 74_37 +1 known missense c.1403 p.R468Q 0.002 NULL superfamily_Fibronectin_type3 - no_errors IL21R HGNC ENSG00000103522 51 0 0 37 5 11.9048 SRCAP 0 genome.wustl.edu 37 16 30727524 30727524 + Splice_Site SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 16 30727524 30727524 G A SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known splice_site c.2630+1 e15+1 1.000 - - - no_errors SRCAP HGNC ENSG00000080603 142 0 0 120 19 13.6691 KAT8 0 genome.wustl.edu 37 16 31131665 31131665 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 16 31131665 31131665 C T SNP KAT8 ENST00000448516 human ensembl 74_37 +1 known missense c.292 p.R98W 1.000 pfam_Tudor-knot,superfamily_Chromodomain-like,smart_Chromo_domain/shadow pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors KAT8 HGNC ENSG00000103510 74 0 0 59 9 13.2353 LCAT 0 genome.wustl.edu 37 16 67976469 67976469 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 16 67976469 67976469 C T SNP LCAT ENST00000264005 human ensembl 74_37 -1 known missense c.545 p.R182H 0.010 pfam_LACT/PDAT_acylTrfase pfam_LACT/PDAT_acylTrfase - no_errors LCAT HGNC ENSG00000213398 77 0 0 63 4 5.97015 WWP2 0 genome.wustl.edu 37 16 69922098 69922098 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 16 69922098 69922098 C T SNP WWP2 ENST00000356003 human ensembl 74_37 +1 known missense c.860 p.S287L 0.160 NULL pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom - no_errors WWP2 HGNC ENSG00000198373 90 0 0 61 16 20.7792 GRIN2A 0 genome.wustl.edu 37 16 9857275 9857275 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 16 9857275 9857275 G A SNP GRIN2A ENST00000330684 human ensembl 74_37 -1 known missense c.4126 p.R1376C 0.909 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 100 0 0 78 15 16.129 TEKT3 0 genome.wustl.edu 37 17 15211982 15211982 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 17 15211982 15211982 G A SNP TEKT3 ENST00000338696 human ensembl 74_37 -1 known missense c.1255 p.R419C 0.994 pfam_Tektin,prints_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT3 HGNC ENSG00000125409 109 1 0.909091 96 10 9.43396 UNC45B 0 genome.wustl.edu 37 17 33495277 33495277 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 17 33495277 33495277 C T SNP UNC45B ENST00000268876 human ensembl 74_37 +1 known missense c.1349 p.T450M 0.996 pfam_UNC-45/Ring3,superfamily_ARM-type_fold pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,smart_Armadillo,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UNC45B HGNC ENSG00000141161 87 0 0 66 12 15.3846 ITGAE 0 genome.wustl.edu 37 17 3631275 3631275 + Missense_Mutation SNP A A T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 17 3631275 3631275 A T SNP ITGAE ENST00000263087 human ensembl 74_37 -1 known missense c.3022 p.C1008S 1.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAE HGNC ENSG00000083457 91 0 0 92 5 5.15464 TMEM99 0 genome.wustl.edu 37 17 38990822 38990822 + Silent SNP T T C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 17 38990822 38990822 T C SNP TMEM99 ENST00000301665 human ensembl 74_37 +1 known silent c.54 p.C18 0.008 NULL NULL - no_errors TMEM99 HGNC ENSG00000167920 84 0 0 70 11 13.5802 KRTAP4-11 0 genome.wustl.edu 37 17 39274415 39274415 + Silent SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 17 39274415 39274415 C T SNP KRTAP4-11 ENST00000391413 human ensembl 74_37 -1 known silent c.153 p.R51 0.000 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP4-11 HGNC ENSG00000212721 69 0 0 61 4 6.15385 KIF2B 0 genome.wustl.edu 37 17 51901928 51901928 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 17 51901928 51901928 T G SNP KIF2B ENST00000268919 human ensembl 74_37 +1 known missense c.1534 p.S512A 0.998 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2B HGNC ENSG00000141200 66 0 0 70 10 12.5 CEP112 0 genome.wustl.edu 37 17 64059183 64059183 + Silent SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 17 64059183 64059183 A C SNP CEP112 ENST00000392769 human ensembl 74_37 -1 known silent c.972 p.R324 1.000 NULL superfamily_t-SNARE - no_errors CEP112 HGNC ENSG00000154240 51 0 0 46 5 9.80392 ABCA5 0 genome.wustl.edu 37 17 67300886 67300886 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 17 67300886 67300886 G A SNP ABCA5 ENST00000392677 human ensembl 74_37 -1 known missense c.854 p.A285V 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ENSG00000154265 105 0 0 67 21 23.8636 ITGB4 0 genome.wustl.edu 37 17 73727404 73727404 + Silent SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 17 73727404 73727404 C T SNP ITGB4 ENST00000200181 human ensembl 74_37 +1 known silent c.1170 p.F390 0.033 pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,smart_Integrin_bsu_N pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3 - no_errors ITGB4 HGNC ENSG00000132470 98 0 0 72 8 10 KCNAB3 0 genome.wustl.edu 37 17 7826435 7826435 + Silent SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 17 7826435 7826435 C T SNP KCNAB3 ENST00000303790 human ensembl 74_37 -1 known silent c.1200 p.P400 0.019 superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB3,prints_K_chnl_volt-dep_bsu_KCNAB1,tigrfam_K_chnl_volt-dep_bsu_KCNAB - no_errors KCNAB3 HGNC ENSG00000170049 119 0 0 90 5 5.26316 RNF213 0 genome.wustl.edu 37 17 78282836 78282836 + Missense_Mutation SNP G G T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 17 78282836 78282836 G T SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.2520 p.L840F 0.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 173 0 0 134 22 14.1026 ASXL3 0 genome.wustl.edu 37 18 31319840 31319840 + Silent SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 18 31319840 31319840 G A SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known silent c.2472 p.P824 0.026 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 60 0 0 44 9 16.9811 COLEC12 0 genome.wustl.edu 37 18 333120 333120 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 18 333120 333120 A C SNP COLEC12 ENST00000400256 human ensembl 74_37 -1 known missense c.1840 p.F614V 1.000 superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors COLEC12 HGNC ENSG00000158270 97 0 0 73 17 18.8889 RIT2 0 genome.wustl.edu 37 18 40323518 40323518 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 18 40323518 40323518 T G SNP RIT2 ENST00000326695 human ensembl 74_37 -1 known missense c.594 p.K198N 0.996 smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RIT2 HGNC ENSG00000152214 169 0 0 182 24 11.6505 LRRC30 0 genome.wustl.edu 37 18 7231390 7231390 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 18 7231390 7231390 T G SNP LRRC30 ENST00000383467 human ensembl 74_37 +1 known missense c.254 p.V85G 0.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC30 HGNC ENSG00000206422 74 0 0 49 11 18.3333 CPAMD8 0 genome.wustl.edu 37 19 17091456 17091456 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 19 17091456 17091456 G A SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known missense c.1577 p.P526L 1.000 pfam_A2M_N_2 pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom - no_errors CPAMD8 HGNC ENSG00000160111 126 0 0 125 12 8.75912 CILP2 0 genome.wustl.edu 37 19 19655627 19655627 + Missense_Mutation SNP T T C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 19 19655627 19655627 T C SNP CILP2 ENST00000291495 human ensembl 74_37 +1 known missense c.2273 p.V758A 1.000 NULL pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors CILP2 HGNC ENSG00000160161 28 0 0 19 7 26.9231 ZNF486 0 genome.wustl.edu 37 19 20308606 20308606 + Missense_Mutation SNP T T C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 19 20308606 20308606 T C SNP ZNF486 ENST00000335117 human ensembl 74_37 +1 known missense c.1087 p.S363P 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 ZNF486 HGNC ENSG00000256229 51 0 0 40 10 20 ZNF43 0 genome.wustl.edu 37 19 21992583 21992583 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 19 21992583 21992583 A C SNP ZNF43 ENST00000354959 human ensembl 74_37 -1 known missense c.256 p.F86V 0.003 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF43 HGNC ENSG00000198521 118 0 0 113 9 7.37705 ZNF99 0 genome.wustl.edu 37 19 22941726 22941726 + Missense_Mutation SNP T T C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 19 22941726 22941726 T C SNP ZNF99 ENST00000397104 human ensembl 74_37 -1 known missense c.712 p.R238G 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 ZNF99 HGNC ENSG00000213973 75 0 0 75 8 9.63855 SNRPA 0 genome.wustl.edu 37 19 41263238 41263238 + Missense_Mutation SNP G G C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 19 41263238 41263238 G C SNP SNRPA ENST00000243563 human ensembl 74_37 +1 known missense c.75 p.E25D 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SNRPA HGNC ENSG00000077312 62 0 0 45 7 13.4615 CEACAM3 0 genome.wustl.edu 37 19 42301736 42301736 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 19 42301736 42301736 G A SNP CEACAM3 ENST00000357396 human ensembl 74_37 +1 known missense c.280 p.A94T 0.007 pfam_Ig_V-set pfam_Ig_V-set - no_errors CEACAM3 HGNC ENSG00000170956 249 1 0.4 188 31 14.1553 FPR2 0 genome.wustl.edu 37 19 52272262 52272262 + Silent SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 19 52272262 52272262 T G SNP FPR2 ENST00000340023 human ensembl 74_37 +1 known silent c.351 p.G117 0.066 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_DEZorph_rcpt - no_errors FPR2 HGNC ENSG00000171049 132 0 0 80 12 13.0435 ZNF649 0 genome.wustl.edu 37 19 52394692 52394692 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 19 52394692 52394692 G A SNP ZNF649 ENST00000354957 human ensembl 74_37 -1 known missense c.697 p.P233S 0.998 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 ZNF649 HGNC ENSG00000198093 161 0 0 150 26 14.7727 NLRP7 0 genome.wustl.edu 37 19 55450806 55450806 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 19 55450806 55450806 T G SNP NLRP7 ENST00000446217 human ensembl 74_37 -1 known missense c.1465 p.K489Q 0.001 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP7 HGNC ENSG00000167634 54 0 0 45 5 10 NLRP8 0 genome.wustl.edu 37 19 56477711 56477711 + Silent SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 19 56477711 56477711 G A SNP NLRP8 ENST00000291971 human ensembl 74_37 +1 known silent c.2346 p.V782 0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP8 HGNC ENSG00000179709 82 0 0 67 7 9.45946 DUS3L 0 genome.wustl.edu 37 19 5791136 5791136 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 19 5791136 5791136 G A SNP DUS3L ENST00000309061 human ensembl 74_37 -1 known missense c.17 p.A6V 0.000 NULL pfam_tRNA_hU_synthase - no_errors DUS3L HGNC ENSG00000141994 12 0 0 14 3 17.6471 ZSCAN1 0 genome.wustl.edu 37 19 58565060 58565060 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 19 58565060 58565060 C T SNP ZSCAN1 ENST00000282326 human ensembl 74_37 +1 known missense c.868 p.R290W 0.696 NULL 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 ZSCAN1 HGNC ENSG00000152467 76 0 0 66 4 5.71429 FBN3 0 genome.wustl.edu 37 19 8188407 8188407 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 19 8188407 8188407 C T SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known missense c.3023 p.S1008N 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 46 0 0 33 3 8.33333 MUC16 0 genome.wustl.edu 37 19 9086015 9086015 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 19 9086015 9086015 A C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.5800 p.L1934V 0.055 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 60 0 0 70 8 10.2564 ATP6V1C2 0 genome.wustl.edu 37 2 10912687 10912687 + Missense_Mutation SNP C C G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 2 10912687 10912687 C G SNP ATP6V1C2 ENST00000272238 human ensembl 74_37 +1 known missense c.589 p.Q197E 1.000 pfam_ATPase_V1-cplx_csu pfam_ATPase_V1-cplx_csu - no_errors ATP6V1C2 HGNC ENSG00000143882 407 0 0 336 25 6.92521 LRP1B 0 genome.wustl.edu 37 2 141201953 141201953 + Silent SNP A A G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 2 141201953 141201953 A G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known silent c.10240 p.L3414 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_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_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 137 0 0 119 26 17.931 LRP1B 0 genome.wustl.edu 37 2 141250226 141250226 + Missense_Mutation SNP T T C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 2 141250226 141250226 T C SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.9071 p.E3024G 1.000 superfamily_Growth_fac_rcpt_N_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_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_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 155 0 0 140 12 7.89474 SCN1A 0 genome.wustl.edu 37 2 166893015 166893015 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 2 166893015 166893015 A C SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known missense c.2972 p.L991R 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 47 0 0 41 5 10.8696 TTN 0 genome.wustl.edu 37 2 179437107 179437107 + Silent SNP T T C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 2 179437107 179437107 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.66048 p.Q22016 0.989 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 73 0 0 56 4 6.66667 TTN 0 genome.wustl.edu 37 2 179472135 179472135 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 2 179472135 179472135 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.45576 p.E15192D 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub 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 154 0 0 124 28 18.4211 ZNF804A 0 genome.wustl.edu 37 2 185802505 185802505 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 2 185802505 185802505 A C SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known missense c.2382 p.E794D 0.133 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 87 0 0 106 11 9.40171 MYT1L 0 genome.wustl.edu 37 2 1893207 1893207 + Missense_Mutation SNP T T C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 2 1893207 1893207 T C SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known missense c.2326 p.S776G 1.000 pfam_Myelin_TF pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 93 0 0 61 4 6.15385 NAB1 0 genome.wustl.edu 37 2 191524263 191524263 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 2 191524263 191524263 C T SNP NAB1 ENST00000337386 human ensembl 74_37 +1 known missense c.361 p.R121W 1.000 NULL pfam_Nab1_C,pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed - no_errors NAB1 HGNC ENSG00000138386 61 0 0 57 9 13.6364 MAP2 0 genome.wustl.edu 37 2 210569185 210569185 + Missense_Mutation SNP G G T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 2 210569185 210569185 G T SNP MAP2 ENST00000199940 human ensembl 74_37 +1 known missense c.528 p.L176F 1.000 NULL pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 126 0 0 99 12 10.8108 FEV 0 genome.wustl.edu 37 2 219846688 219846688 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 2 219846688 219846688 C T SNP FEV ENST00000295727 human ensembl 74_37 -1 known missense c.418 p.A140T 1.000 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors FEV HGNC ENSG00000163497 32 0 0 24 5 17.2414 PAX3 0 genome.wustl.edu 37 2 223085988 223085988 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 2 223085988 223085988 G A SNP PAX3 ENST00000392069 human ensembl 74_37 -1 known missense c.911 p.T304M 1.000 NULL pfam_Paired_dom,pfam_Pax7,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX3 HGNC ENSG00000135903 289 0 0 249 20 7.43494 HDLBP 0 genome.wustl.edu 37 2 242168943 242168943 + RNA SNP T T C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 2 242168943 242168943 T C SNP HDLBP ENST00000484412 human ensembl 74_37 -1 putative rna NULL NULL 1.000 - - - no_errors HDLBP HGNC ENSG00000115677 11 0 0 8 6 42.8571 CENPO 0 genome.wustl.edu 37 2 25040575 25040575 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 2 25040575 25040575 G A SNP CENPO ENST00000260662 human ensembl 74_37 +1 known missense c.803 p.R268Q 0.997 NULL pfam_CENP-O - no_errors CENPO HGNC ENSG00000138092 68 0 0 45 5 10 OTX1 0 genome.wustl.edu 37 2 63283145 63283145 + Silent SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 2 63283145 63283145 G A SNP OTX1 ENST00000282549 human ensembl 74_37 +1 known silent c.759 p.A253 0.933 pfam_Otx_TF_C pfam_Otx_TF_C,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Otx1_TF,prints_Otx_TF - no_errors OTX1 HGNC ENSG00000115507 135 0 0 99 19 16.1017 FRG1B 0 genome.wustl.edu 37 20 29614328 29614328 + Splice_Site SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 20 29614328 29614328 G A SNP FRG1B ENST00000278882 human ensembl 74_37 +1 known splice_site c.1+1 e0+1 0.990 - - - no_errors FRG1B HGNC ENSG00000149531 45 0 0 43 4 8.51064 SLC32A1 0 genome.wustl.edu 37 20 37356678 37356678 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 20 37356678 37356678 C T SNP SLC32A1 ENST00000217420 human ensembl 74_37 +1 known missense c.974 p.S325L 0.992 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC32A1 HGNC ENSG00000101438 77 0 0 53 17 24.2857 ADRBK2 0 genome.wustl.edu 37 22 26100174 26100174 + Silent SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 22 26100174 26100174 C T SNP ADRBK2 ENST00000324198 human ensembl 74_37 +1 known silent c.1326 p.G442 0.703 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors ADRBK2 HGNC ENSG00000100077 75 0 0 76 6 7.31707 ZMAT5 0 genome.wustl.edu 37 22 30136716 30136716 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 22 30136716 30136716 T G SNP ZMAT5 ENST00000344318 human ensembl 74_37 -1 known missense c.194 p.Q65P 1.000 pfam_Znf_CCCH,smart_Znf_CCCH pfam_Znf_CCCH,pfam_Znf_U1-C,smart_Znf_CCCH - no_errors ZMAT5 HGNC ENSG00000100319 18 0 0 17 3 15 TMPRSS6 0 genome.wustl.edu 37 22 37482353 37482353 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 22 37482353 37482353 C T SNP TMPRSS6 ENST00000381792 human ensembl 74_37 -1 known missense c.943 p.V315M 0.000 pirsf_Pept_S1A_matriptase-2,superfamily_CUB_dom pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors TMPRSS6 HGNC ENSG00000187045 41 0 0 33 4 10.8108 CACNA1I 0 genome.wustl.edu 37 22 40055734 40055734 + Silent SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 22 40055734 40055734 C T SNP CACNA1I ENST00000336649 human ensembl 74_37 +1 known silent c.2499 p.L833 1.000 pfam_Ion_trans_dom,prints_VDCCAlpha1 pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 149 0 0 151 15 9.03614 MPPED1 0 genome.wustl.edu 37 22 43831011 43831011 + Silent SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 22 43831011 43831011 C T SNP MPPED1 ENST00000538182 human ensembl 74_37 +1 known silent c.381 p.C127 0.658 NULL pfam_PEstase_dom - no_errors MPPED1 HGNC ENSG00000186732 148 0 0 129 20 13.4228 STXBP5L 0 genome.wustl.edu 37 3 120764302 120764302 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 3 120764302 120764302 T G SNP STXBP5L ENST00000273666 human ensembl 74_37 +1 known missense c.390 p.S130R 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5L HGNC ENSG00000145087 254 0 0 232 25 9.72763 STXBP5L 0 genome.wustl.edu 37 3 120977937 120977937 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 3 120977937 120977937 T G SNP STXBP5L ENST00000273666 human ensembl 74_37 +1 known missense c.1880 p.L627R 1.000 superfamily_WD40_repeat_dom pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5L HGNC ENSG00000145087 89 0 0 50 12 19.3548 RASA2 0 genome.wustl.edu 37 3 141305575 141305575 + Silent SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 3 141305575 141305575 C T SNP RASA2 ENST00000452898 human ensembl 74_37 +1 known silent c.1914 p.L638 1.000 pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RasGAP,pfam_C2_dom,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA2 HGNC ENSG00000155903 39 0 0 26 6 18.75 DHX36 0 genome.wustl.edu 37 3 153995437 153995437 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 3 153995437 153995437 C T SNP DHX36 ENST00000496811 human ensembl 74_37 -1 known missense c.2638 p.D880N 0.989 pfam_DUF1605 pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX36 HGNC ENSG00000174953 80 0 0 56 9 13.8462 KCNH8 0 genome.wustl.edu 37 3 19575469 19575469 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 3 19575469 19575469 T G SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known missense c.3202 p.L1068V 0.996 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 67 0 0 57 7 10.9375 MYRIP 0 genome.wustl.edu 37 3 40275351 40275351 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 3 40275351 40275351 A C SNP MYRIP ENST00000302541 human ensembl 74_37 +1 known missense c.1907 p.K636T 1.000 pfam_Myrip/Melanophilin pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ - no_errors MYRIP HGNC ENSG00000170011 108 0 0 72 12 14.2857 NBEAL2 0 genome.wustl.edu 37 3 47049917 47049917 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 3 47049917 47049917 C T SNP NBEAL2 ENST00000450053 human ensembl 74_37 +1 known missense c.7864 p.R2622C 0.395 superfamily_WD40_repeat_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC ENSG00000160796 58 0 0 50 8 13.7931 GRM2 0 genome.wustl.edu 37 3 51746766 51746766 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 3 51746766 51746766 G A SNP GRM2 ENST00000395052 human ensembl 74_37 +1 known missense c.728 p.R243H 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B - no_errors GRM2 HGNC ENSG00000164082 40 0 0 41 6 12.766 PRICKLE2 0 genome.wustl.edu 37 3 64085187 64085187 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 3 64085187 64085187 C T SNP PRICKLE2 ENST00000295902 human ensembl 74_37 -1 known missense c.2075 p.R692H 1.000 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE2 HGNC ENSG00000163637 82 0 0 63 7 10 ADAMTS9 0 genome.wustl.edu 37 3 64619467 64619467 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 3 64619467 64619467 A C SNP ADAMTS9 ENST00000498707 human ensembl 74_37 -1 known missense c.1945 p.F649V 1.000 NULL pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS9 HGNC ENSG00000163638 132 0 0 138 21 13.2075 CNTN3 0 genome.wustl.edu 37 3 74418456 74418456 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 3 74418456 74418456 T G SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known missense c.830 p.K277T 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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 CNTN3 HGNC ENSG00000113805 83 0 0 73 10 12.0482 EPHA3 0 genome.wustl.edu 37 3 89176408 89176408 + Silent SNP T T C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 3 89176408 89176408 T C SNP EPHA3 ENST00000336596 human ensembl 74_37 +1 known silent c.138 p.S46 0.997 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_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_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,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 EPHA3 HGNC ENSG00000044524 154 1 0.645161 129 11 7.85714 DDIT4L 0 genome.wustl.edu 37 4 101108874 101108874 + Missense_Mutation SNP A A G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 4 101108874 101108874 A G SNP DDIT4L ENST00000273990 human ensembl 74_37 -1 known missense c.542 p.L181P 1.000 pfam_RTP801-like pfam_RTP801-like - no_errors DDIT4L HGNC ENSG00000145358 115 0 0 94 11 10.4762 SEC24B 0 genome.wustl.edu 37 4 110447513 110447513 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 4 110447513 110447513 T G SNP SEC24B ENST00000265175 human ensembl 74_37 +1 known missense c.2923 p.L975V 0.064 pfam_Sec23_24_beta_S pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24B HGNC ENSG00000138802 84 0 0 77 12 13.4831 NDST4 0 genome.wustl.edu 37 4 115898357 115898357 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 4 115898357 115898357 T G SNP NDST4 ENST00000264363 human ensembl 74_37 -1 known missense c.1052 p.K351T 1.000 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST4 HGNC ENSG00000138653 160 0 0 107 16 13.0081 FAT4 0 genome.wustl.edu 37 4 126237573 126237573 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 4 126237573 126237573 T G SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.7 p.L3V 1.000 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 255 0 0 199 32 13.8528 FAT4 0 genome.wustl.edu 37 4 126370493 126370493 + Silent SNP T T C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 4 126370493 126370493 T C SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known silent c.8322 p.S2774 0.826 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 137 0 0 140 14 9.09091 TDO2 0 genome.wustl.edu 37 4 156838589 156838589 + Silent SNP T T C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 4 156838589 156838589 T C SNP TDO2 ENST00000536354 human ensembl 74_37 +1 known silent c.939 p.S313 0.005 pfam_Trp_2_3_dOase pfam_Trp_2_3_dOase - no_errors TDO2 HGNC ENSG00000151790 105 0 0 78 10 11.3636 FSTL5 0 genome.wustl.edu 37 4 162508614 162508614 + Silent SNP T T C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 4 162508614 162508614 T C SNP FSTL5 ENST00000306100 human ensembl 74_37 -1 known silent c.1008 p.Q336 1.000 smart_Ig_sub pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL5 HGNC ENSG00000168843 100 0 0 98 13 11.7117 SPOCK3 0 genome.wustl.edu 37 4 167833778 167833778 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 4 167833778 167833778 G A SNP SPOCK3 ENST00000357154 human ensembl 74_37 -1 known missense c.476 p.S159F 1.000 pfam_Kazal_dom,smart_Kazal_dom pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SPOCK3 HGNC ENSG00000196104 58 0 0 49 6 10.9091 SLC34A2 0 genome.wustl.edu 37 4 25677985 25677985 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 4 25677985 25677985 G A SNP SLC34A2 ENST00000382051 human ensembl 74_37 +1 known missense c.1687 p.V563I 0.000 tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,superfamily_ABC1_TM_dom,tigrfam_Na/Pi_transpt - no_errors SLC34A2 HGNC ENSG00000157765 137 0 0 113 6 5.04202 PPP2R2C 0 genome.wustl.edu 37 4 6335368 6335368 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 4 6335368 6335368 C T SNP PPP2R2C ENST00000335585 human ensembl 74_37 -1 known missense c.881 p.R294H 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2C HGNC ENSG00000074211 175 0 0 111 30 21.2766 EPHA5 0 genome.wustl.edu 37 4 66356149 66356149 + Silent SNP A A G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 4 66356149 66356149 A G SNP EPHA5 ENST00000273854 human ensembl 74_37 -1 known silent c.1348 p.L450 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3 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,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 103 1 0.961538 86 14 14 UNC5C 0 genome.wustl.edu 37 4 96140209 96140209 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 4 96140209 96140209 T G SNP UNC5C ENST00000453304 human ensembl 74_37 -1 known missense c.1556 p.N519T 0.996 NULL pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5C HGNC ENSG00000182168 126 0 0 104 16 13.3333 KCNN2 0 genome.wustl.edu 37 5 113740388 113740388 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 5 113740388 113740388 T G SNP KCNN2 ENST00000264773 human ensembl 74_37 +1 known missense c.836 p.L279R 1.000 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN2 HGNC ENSG00000080709 112 0 0 97 16 14.1593 PRR16 0 genome.wustl.edu 37 5 120022263 120022263 + Silent SNP T T A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 5 120022263 120022263 T A SNP PRR16 ENST00000407149 human ensembl 74_37 +1 known silent c.774 p.P258 1.000 NULL NULL - no_errors PRR16 HGNC ENSG00000184838 51 0 0 58 7 10.7692 PDLIM4 0 genome.wustl.edu 37 5 131606705 131606705 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 5 131606705 131606705 G A SNP PDLIM4 ENST00000253754 human ensembl 74_37 +1 known missense c.425 p.R142H 0.192 NULL pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM4 HGNC ENSG00000131435 145 0 0 138 15 9.80392 KDM3B 0 genome.wustl.edu 37 5 137717277 137717277 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 5 137717277 137717277 G A SNP KDM3B ENST00000314358 human ensembl 74_37 +1 known missense c.778 p.E260K 0.993 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC ENSG00000120733 77 0 0 43 6 12.2449 PCDHB6 0 genome.wustl.edu 37 5 140532003 140532003 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 5 140532003 140532003 G A SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known missense c.2165 p.R722H 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 243 0 0 176 20 10.2041 PCDHGA8 0 genome.wustl.edu 37 5 140772818 140772818 + Silent SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 5 140772818 140772818 G A SNP PCDHGA8 ENST00000398604 human ensembl 74_37 +1 known silent c.438 p.A146 0.003 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA8 HGNC ENSG00000253767 96 0 0 75 10 11.7647 GABRA6 0 genome.wustl.edu 37 5 161113274 161113274 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 5 161113274 161113274 A C SNP GABRA6 ENST00000274545 human ensembl 74_37 +1 known missense c.77 p.N26T 0.975 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 114 0 0 106 11 9.40171 FAM153B 0 genome.wustl.edu 37 5 175526047 175526047 + Silent SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 5 175526047 175526047 C T SNP FAM153B ENST00000253490 human ensembl 74_37 +1 known silent c.561 p.N187 0.000 NULL prints_FAM153 - no_errors FAM153B HGNC ENSG00000182230 105 0 0 108 9 7.69231 GRM6 0 genome.wustl.edu 37 5 178416042 178416042 + Silent SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 5 178416042 178416042 G A SNP GRM6 ENST00000231188 human ensembl 74_37 -1 known silent c.1248 p.H416 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM6 HGNC ENSG00000113262 37 0 0 26 5 16.129 CDH18 0 genome.wustl.edu 37 5 19473497 19473497 + Silent SNP A A G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 5 19473497 19473497 A G SNP CDH18 ENST00000274170 human ensembl 74_37 -1 known silent c.2211 p.T737 0.987 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH18 HGNC ENSG00000145526 88 0 0 85 15 15 CDH12 0 genome.wustl.edu 37 5 21755750 21755750 + Missense_Mutation SNP A A G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 5 21755750 21755750 A G SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known missense c.1835 p.L612P 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 81 0 0 76 8 9.52381 SPEF2 0 genome.wustl.edu 37 5 35763665 35763665 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 5 35763665 35763665 T G SNP SPEF2 ENST00000356031 human ensembl 74_37 +1 known missense c.3662 p.V1221G 0.000 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 76 0 0 76 5 6.17284 EGFLAM 0 genome.wustl.edu 37 5 38425137 38425137 + Missense_Mutation SNP G G T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 5 38425137 38425137 G T SNP EGFLAM ENST00000354891 human ensembl 74_37 +1 known missense c.1753 p.A585S 1.000 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G - no_errors EGFLAM HGNC ENSG00000164318 174 0 0 138 19 12.1019 GHR 0 genome.wustl.edu 37 5 42689103 42689103 + Missense_Mutation SNP A A G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 5 42689103 42689103 A G SNP GHR ENST00000230882 human ensembl 74_37 +1 known missense c.248 p.Q83R 0.998 pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3 pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors GHR HGNC ENSG00000112964 138 0 0 124 20 13.8889 MARVELD2 0 genome.wustl.edu 37 5 68715518 68715518 + Silent SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 5 68715518 68715518 G A SNP MARVELD2 ENST00000325631 human ensembl 74_37 +1 known silent c.306 p.P102 0.000 NULL pfam_Occludin_RNApol2_elong_fac_ELL,pfam_Marvel - no_errors MARVELD2 HGNC ENSG00000152939 70 0 0 77 5 6.09756 GRIK2 0 genome.wustl.edu 37 6 102069857 102069857 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 6 102069857 102069857 T G SNP GRIK2 ENST00000421544 human ensembl 74_37 +1 known missense c.149 p.M50R 1.000 superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK2 HGNC ENSG00000164418 62 0 0 52 16 23.5294 HIST1H2BK 0 genome.wustl.edu 37 6 27114186 27114186 + Splice_Site SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 6 27114186 27114186 A C SNP HIST1H2BK ENST00000396891 human ensembl 74_37 -1 known splice_site c.381+2 e1+2 0.000 - - - no_errors HIST1H2BK HGNC ENSG00000197903 132 0 0 114 27 19.1489 ZNF311 0 genome.wustl.edu 37 6 28963238 28963238 + Missense_Mutation SNP A A T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 6 28963238 28963238 A T SNP ZNF311 ENST00000377179 human ensembl 74_37 -1 known missense c.1541 p.L514H 0.822 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 ZNF311 HGNC ENSG00000197935 66 0 0 44 20 31.25 OR12D2 0 genome.wustl.edu 37 6 29364723 29364723 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 6 29364723 29364723 T G SNP OR12D2 ENST00000383555 human ensembl 74_37 +1 known missense c.247 p.F83V 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR12D2 HGNC ENSG00000168787 103 1 0.961538 69 24 25.8065 ATAT1 0 genome.wustl.edu 37 6 30596123 30596123 + Silent SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 6 30596123 30596123 G A SNP ATAT1 ENST00000376485 human ensembl 74_37 +1 known silent c.453 p.P151 0.989 pfam_Alpha-TAT pfam_Alpha-TAT,superfamily_Acyl_CoA_acyltransferase - no_errors ATAT1 HGNC ENSG00000137343 46 0 0 48 11 18.6441 HLA-DOA 0 genome.wustl.edu 37 6 32975992 32975992 + Silent SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 6 32975992 32975992 G A SNP HLA-DOA ENST00000229829 human ensembl 74_37 -1 known silent c.129 p.G43 0.000 pfam_MHC_II_a_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DOA HGNC ENSG00000204252 69 0 0 40 13 24.5283 MEP1A 0 genome.wustl.edu 37 6 46777187 46777187 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 6 46777187 46777187 C T SNP MEP1A ENST00000230588 human ensembl 74_37 +1 known missense c.293 p.A98V 1.000 pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,smart_Peptidase_Metallo,prints_Peptidase_M12A pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EG-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom - no_errors MEP1A HGNC ENSG00000112818 144 1 0.689655 96 29 23.2 KHDRBS2 0 genome.wustl.edu 37 6 62757869 62757869 + Missense_Mutation SNP T T C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 6 62757869 62757869 T C SNP KHDRBS2 ENST00000281156 human ensembl 74_37 -1 known missense c.250 p.R84G 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHDRBS2 HGNC ENSG00000112232 113 0 0 95 24 20.1681 COL12A1 0 genome.wustl.edu 37 6 75838046 75838046 + Silent SNP T T C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 6 75838046 75838046 T C SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known silent c.6306 p.G2102 0.999 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 145 0 0 124 28 18.4211 CADPS2 0 genome.wustl.edu 37 7 122033617 122033617 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 7 122033617 122033617 T G SNP CADPS2 ENST00000449022 human ensembl 74_37 -1 known missense c.2766 p.K922N 1.000 NULL pfam_Ca-dep_secretion_activator,pfam_Pleckstrin_homology,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS2 HGNC ENSG00000081803 74 0 0 62 8 11.4286 CHRM2 0 genome.wustl.edu 37 7 136700432 136700432 + Missense_Mutation SNP T T A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 7 136700432 136700432 T A SNP CHRM2 ENST00000320658 human ensembl 74_37 +1 known missense c.820 p.C274S 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM2 HGNC ENSG00000181072 64 0 0 57 6 9.52381 TMEM176B 0 genome.wustl.edu 37 7 150493578 150493578 + Missense_Mutation SNP A A G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 7 150493578 150493578 A G SNP TMEM176B ENST00000326442 human ensembl 74_37 -1 known missense c.80 p.I27T 1.000 NULL pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt - no_errors TMEM176B HGNC ENSG00000106565 83 0 0 67 4 5.6338 DNAH11 0 genome.wustl.edu 37 7 21826307 21826307 + Silent SNP C C A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 7 21826307 21826307 C A SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known silent c.9684 p.A3228 0.138 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 133 0 0 134 25 15.7233 ANLN 0 genome.wustl.edu 37 7 36492149 36492149 + Silent SNP T T C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 7 36492149 36492149 T C SNP ANLN ENST00000265748 human ensembl 74_37 +1 known silent c.3315 p.V1105 0.930 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors ANLN HGNC ENSG00000011426 443 1 0.225225 334 51 13.2468 ELMO1 0 genome.wustl.edu 37 7 37354471 37354471 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 7 37354471 37354471 A C SNP ELMO1 ENST00000310758 human ensembl 74_37 -1 known missense c.175 p.F59V 1.000 NULL pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 53 0 0 50 7 12.2807 NME8 0 genome.wustl.edu 37 7 37924817 37924817 + Silent SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 7 37924817 37924817 A C SNP NME8 ENST00000199447 human ensembl 74_37 +1 known silent c.1210 p.R404 0.898 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase - no_errors NME8 HGNC ENSG00000086288 39 0 0 24 3 11.1111 ZNF716 0 genome.wustl.edu 37 7 57529279 57529279 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 7 57529279 57529279 A C SNP ZNF716 ENST00000420713 human ensembl 74_37 +1 known missense c.1112 p.K371T 0.563 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 ZNF716 HGNC ENSG00000182111 16 0 0 19 3 13.6364 WBSCR17 0 genome.wustl.edu 37 7 70885974 70885974 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 7 70885974 70885974 A C SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known missense c.845 p.N282T 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 185 0 0 156 26 14.2857 RIMS2 0 genome.wustl.edu 37 8 104898091 104898091 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 8 104898091 104898091 A C SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.1264 p.S422R 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 85 0 0 67 18 21.1765 RIMS2 0 genome.wustl.edu 37 8 104898096 104898096 + Silent SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 8 104898096 104898096 T G SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known silent c.1269 p.S423 0.998 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 80 0 0 71 15 17.4419 RIMS2 0 genome.wustl.edu 37 8 105260951 105260951 + Silent SNP T T C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 8 105260951 105260951 T C SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known silent c.3499 p.L1167 0.999 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 102 0 0 100 19 15.9664 LRP12 0 genome.wustl.edu 37 8 105503202 105503202 + Missense_Mutation SNP A A G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 8 105503202 105503202 A G SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known missense c.2222 p.L741P 1.000 NULL pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,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 LRP12 HGNC ENSG00000147650 112 0 0 95 22 18.8034 SOX7 0 genome.wustl.edu 37 8 10583717 10583717 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 8 10583717 10583717 C T SNP SOX7 ENST00000553390 human ensembl 74_37 -1 known missense c.854 p.R285H 0.758 pfam_Sox_C_TAD pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_box_dom - no_errors SOX7 HGNC ENSG00000171056 75 0 0 65 11 14.4737 TRHR 0 genome.wustl.edu 37 8 110131681 110131681 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 8 110131681 110131681 T G SNP TRHR ENST00000311762 human ensembl 74_37 +1 known missense c.1194 p.S398R 0.995 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_TRH_rcpt_1,prints_GPCR_Rhodpsn - no_errors TRHR HGNC ENSG00000174417 72 0 0 103 6 5.50459 MSR1 0 genome.wustl.edu 37 8 16026107 16026107 + Missense_Mutation SNP A A G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 8 16026107 16026107 A G SNP MSR1 ENST00000262101 human ensembl 74_37 -1 known missense c.490 p.S164P 0.067 pfam_Macro_scav_rcpt,prints_Macro_scav_rcpt pfam_SRCR,pfam_Macro_scav_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,superfamily_STAT_TF_coiled-coil,smart_Srcr_rcpt-rel,prints_Macro_scav_rcpt,prints_SRCR,pfscan_SRCR - no_errors MSR1 HGNC ENSG00000038945 118 0 0 134 11 7.58621 CSMD1 0 genome.wustl.edu 37 8 2949052 2949052 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 8 2949052 2949052 T G SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.7274 p.K2425T 1.000 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 56 0 0 64 6 8.57143 FGFR1 0 genome.wustl.edu 37 8 38279423 38279423 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 8 38279423 38279423 C T SNP FGFR1 ENST00000425967 human ensembl 74_37 -1 known missense c.1066 p.V356M 1.000 pirsf_FGF_rcpt_fam,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR1 HGNC ENSG00000077782 59 0 0 58 7 10.7692 POMK 0 genome.wustl.edu 37 8 42958728 42958728 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 8 42958728 42958728 G A SNP POMK ENST00000331373 human ensembl 74_37 +1 known missense c.37 p.A13T 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom - no_errors POMK HGNC ENSG00000185900 88 0 0 135 11 7.53425 OPRK1 0 genome.wustl.edu 37 8 54142200 54142200 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 8 54142200 54142200 C T SNP OPRK1 ENST00000265572 human ensembl 74_37 -1 known missense c.800 p.R267H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_Opioid_rcpt,prints_Somatstn_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Kappa_opi_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_Somatstn_rcpt,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors OPRK1 HGNC ENSG00000082556 67 0 0 60 8 11.7647 OPRK1 0 genome.wustl.edu 37 8 54147490 54147490 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 8 54147490 54147490 A C SNP OPRK1 ENST00000265572 human ensembl 74_37 -1 known missense c.439 p.F147V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Kappa_opi_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_Somatstn_rcpt,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors OPRK1 HGNC ENSG00000082556 48 0 0 56 11 16.4179 PREX2 0 genome.wustl.edu 37 8 69058469 69058469 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 8 69058469 69058469 A C SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.4113 p.E1371D 1.000 NULL 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 60 0 0 66 6 8.33333 SULF1 0 genome.wustl.edu 37 8 70536271 70536271 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 8 70536271 70536271 A C SNP SULF1 ENST00000260128 human ensembl 74_37 +1 known missense c.1689 p.E563D 0.999 pfam_Extracellular_sulfatase_C,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 71 0 0 64 10 13.5135 NECAB1 0 genome.wustl.edu 37 8 91937774 91937774 + Missense_Mutation SNP C C A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 8 91937774 91937774 C A SNP NECAB1 ENST00000417640 human ensembl 74_37 +1 known missense c.506 p.A169D 0.278 NULL pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NECAB1 HGNC ENSG00000123119 32 0 0 32 4 11.1111 ZNF883 0 genome.wustl.edu 37 9 115759835 115759835 + RNA SNP T T C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 9 115759835 115759835 T C SNP ZNF883 ENST00000427548 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ZNF883 HGNC ENSG00000228623 54 0 0 52 5 8.77193 TLR4 0 genome.wustl.edu 37 9 120475865 120475865 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 9 120475865 120475865 T G SNP TLR4 ENST00000355622 human ensembl 74_37 +1 known missense c.1459 p.F487V 0.000 pirsf_Toll-like_receptor,smart_Leu-rich_rpt_typical-subtyp pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR4 HGNC ENSG00000136869 112 0 0 98 12 10.9091 FUT7 0 genome.wustl.edu 37 9 139925609 139925609 + Silent SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 9 139925609 139925609 C T SNP FUT7 ENST00000314412 human ensembl 74_37 -1 known silent c.582 p.A194 0.000 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT7 HGNC ENSG00000180549 77 0 0 45 14 23.7288 BNC2 0 genome.wustl.edu 37 9 16436121 16436121 + Missense_Mutation SNP A A G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 9 16436121 16436121 A G SNP BNC2 ENST00000380672 human ensembl 74_37 -1 known missense c.2071 p.F691L 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC ENSG00000173068 121 0 0 109 10 8.40336 CNTLN 0 genome.wustl.edu 37 9 17415802 17415802 + Missense_Mutation SNP A A G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 9 17415802 17415802 A G SNP CNTLN ENST00000380647 human ensembl 74_37 +1 known missense c.2813 p.K938R 0.990 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 115 0 0 102 11 9.73451 KIAA2026 0 genome.wustl.edu 37 9 5924714 5924714 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 9 5924714 5924714 T G SNP KIAA2026 ENST00000399933 human ensembl 74_37 -1 novel missense c.2630 p.K877T 0.539 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 151 0 0 127 21 14.1892 SPATA31A7 0 genome.wustl.edu 37 9 65506437 65506437 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 9 65506437 65506437 C T SNP SPATA31A7 ENST00000355045 human ensembl 74_37 -1 known missense c.1123 p.D375N 0.033 NULL NULL - no_errors SPATA31A7 HGNC ENSG00000234734 252 0 0 246 40 13.986 ANXA1 0 genome.wustl.edu 37 9 75781105 75781105 + Missense_Mutation SNP A A G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 9 75781105 75781105 A G SNP ANXA1 ENST00000257497 human ensembl 74_37 +1 known missense c.799 p.I267V 0.974 pfam_Annexin_repeat,smart_Annexin_repeat,prints_AnnexinI pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinI - no_errors ANXA1 HGNC ENSG00000135046 37 0 0 42 6 12.5 RORB 0 genome.wustl.edu 37 9 77257530 77257530 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 9 77257530 77257530 G A SNP RORB ENST00000396204 human ensembl 74_37 +1 known missense c.469 p.V157I 0.997 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt,pfscan_Znf_hrmn_rcpt - no_errors RORB HGNC ENSG00000198963 75 0 0 64 5 7.24638 COL4A6 0 genome.wustl.edu 37 X 107430498 107430498 + Silent SNP T T C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 X 107430498 107430498 T C SNP COL4A6 ENST00000372216 human ensembl 74_37 -1 known silent c.1782 p.G594 0.017 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A6 HGNC ENSG00000197565 69 0 0 49 14 22.2222 TENM1 0 genome.wustl.edu 37 X 123615810 123615810 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 X 123615810 123615810 T G SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.3721 p.S1241R 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 65 0 0 42 13 23.6364 MAGEA10 0 genome.wustl.edu 37 X 151303021 151303021 + Missense_Mutation SNP T T C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 X 151303021 151303021 T C SNP MAGEA10 ENST00000244096 human ensembl 74_37 -1 known missense c.1072 p.S358G 0.000 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA10 HGNC ENSG00000124260 152 0 0 88 32 26.6667 LAGE3 0 genome.wustl.edu 37 X 153706704 153706704 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 X 153706704 153706704 G A SNP LAGE3 ENST00000357360 human ensembl 74_37 -1 known missense c.235 p.H79Y 0.000 pfam_EKC/KEOPS_Pcc1 pfam_EKC/KEOPS_Pcc1 - no_errors LAGE3 HGNC ENSG00000196976 66 0 0 38 14 26.9231 ZNF674 0 genome.wustl.edu 37 X 46359574 46359574 + Silent SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 X 46359574 46359574 G A SNP ZNF674 ENST00000523374 human ensembl 74_37 -1 known silent c.1450 p.L484 0.006 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 ZNF674 HGNC ENSG00000251192 38 0 0 28 11 28.2051 CXorf67 0 genome.wustl.edu 37 X 51150192 51150192 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 X 51150192 51150192 A C SNP CXorf67 ENST00000342995 human ensembl 74_37 +1 known missense c.324 p.E108D 0.000 NULL NULL - no_errors CXorf67 HGNC ENSG00000187690 17 0 0 11 3 21.4286 AMER1 0 genome.wustl.edu 37 X 63410103 63410103 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 X 63410103 63410103 G A SNP AMER1 ENST00000330258 human ensembl 74_37 -1 known missense c.3064 p.R1022C 0.877 NULL pfam_Uncharacterised_FAM123 - no_errors AMER1 HGNC ENSG00000184675 30 0 0 23 8 25.8065 FAM46D 0 genome.wustl.edu 37 X 79698310 79698310 + Missense_Mutation SNP T T A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 X 79698310 79698310 T A SNP FAM46D ENST00000308293 human ensembl 74_37 +1 known missense c.272 p.L91H 0.780 pfam_DUF1693 pfam_DUF1693 - no_errors FAM46D HGNC ENSG00000174016 57 0 0 46 13 22.0339 PCDH11X 0 genome.wustl.edu 37 X 91131988 91131988 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 X 91131988 91131988 A C SNP PCDH11X ENST00000373094 human ensembl 74_37 +1 known missense c.749 p.K250T 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 70 0 0 53 19 26.3889 ZIC2 0 genome.wustl.edu 37 13 100635008 100635010 + In_Frame_Del DEL CCA CCA - TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 CCA CCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 13 100635008 100635010 CCA - DEL ZIC2 ENST00000376335 human ensembl 74_37 +1 known in_frame_del c.690_692 p.H234in_frame_del 0.990:0.999:1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC2 HGNC ENSG00000043355 56 0 0 60 9 13.0435 CADPS2 0 genome.wustl.edu 37 7 122033614 122033614 + Frame_Shift_Del DEL A A - TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 7 122033614 122033614 A - DEL CADPS2 ENST00000449022 human ensembl 74_37 -1 known frame_shift_del c.2769 p.H924fs 1.000 NULL pfam_Ca-dep_secretion_activator,pfam_Pleckstrin_homology,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS2 HGNC ENSG00000081803 85 0 0 74 7 8.64198