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 103544369 103544369 + Silent SNP A A T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 1 103544369 103544369 A T SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known silent c.333 p.I111 0.942 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G 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 29 0 0 23 13 36.1111 ALX3 0 genome.wustl.edu 37 1 110607471 110607471 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 1 110607471 110607471 C T SNP ALX3 ENST00000369792 human ensembl 74_37 -1 known missense c.332 p.R111Q 0.452 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors ALX3 HGNC ENSG00000156150 77 0 0 63 5 7.35294 MFN2 0 genome.wustl.edu 37 1 12069766 12069766 + Missense_Mutation SNP C C G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 1 12069766 12069766 C G SNP MFN2 ENST00000235329 human ensembl 74_37 +1 known missense c.2187 p.S729R 1.000 pfam_Fzo/mitofusin_HR2 pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors MFN2 HGNC ENSG00000116688 80 0 0 72 4 5.26316 GJA5 0 genome.wustl.edu 37 1 147230319 147230319 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 1 147230319 147230319 C T SNP GJA5 ENST00000271348 human ensembl 74_37 -1 known missense c.1028 p.R343H 0.999 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin40 - no_errors GJA5 HGNC ENSG00000143140 93 0 0 84 12 12.5 NUP210L 0 genome.wustl.edu 37 1 154127377 154127377 + Silent SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 1 154127377 154127377 G A SNP NUP210L ENST00000368559 human ensembl 74_37 -1 known silent c.144 p.F48 0.980 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 45 0 0 45 4 8.16327 IGSF9 0 genome.wustl.edu 37 1 159906263 159906263 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 1 159906263 159906263 C T SNP IGSF9 ENST00000368094 human ensembl 74_37 -1 known missense c.599 p.S200N 0.412 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF9 HGNC ENSG00000085552 53 0 0 58 7 10.7692 TNN 0 genome.wustl.edu 37 1 175087816 175087816 + Missense_Mutation SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 1 175087816 175087816 G A SNP TNN ENST00000239462 human ensembl 74_37 +1 known missense c.2506 p.G836R 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 91 0 0 73 7 8.75 FAM129A 0 genome.wustl.edu 37 1 184787881 184787881 + Missense_Mutation SNP A A G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 1 184787881 184787881 A G SNP FAM129A ENST00000367511 human ensembl 74_37 -1 known missense c.1064 p.M355T 1.000 NULL NULL - no_errors FAM129A HGNC ENSG00000135842 169 0 0 173 18 9.42408 KIF14 0 genome.wustl.edu 37 1 200584676 200584676 + Missense_Mutation SNP G G C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 1 200584676 200584676 G C SNP KIF14 ENST00000367350 human ensembl 74_37 -1 known missense c.1174 p.H392D 0.998 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF14 HGNC ENSG00000118193 58 0 0 25 19 43.1818 TNNT2 0 genome.wustl.edu 37 1 201337322 201337322 + Missense_Mutation SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 1 201337322 201337322 G A SNP TNNT2 ENST00000458432 human ensembl 74_37 -1 known missense c.137 p.A46V 0.994 NULL pfam_Troponin - no_errors TNNT2 HGNC ENSG00000118194 91 0 0 52 8 13.3333 FAM177B 0 genome.wustl.edu 37 1 222920036 222920036 + Missense_Mutation SNP A A C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 1 222920036 222920036 A C SNP FAM177B ENST00000360827 human ensembl 74_37 +1 known missense c.149 p.Q50P 0.021 NULL NULL - no_errors FAM177B HGNC ENSG00000197520 27 0 0 29 3 9.375 OR2L3 0 genome.wustl.edu 37 1 248224383 248224383 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 1 248224383 248224383 C T SNP OR2L3 ENST00000359959 human ensembl 74_37 +1 known missense c.400 p.R134C 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L3 HGNC ENSG00000198128 231 0 0 127 101 44.2982 AHDC1 0 genome.wustl.edu 37 1 27876482 27876482 + Silent SNP C C A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 1 27876482 27876482 C A SNP AHDC1 ENST00000247087 human ensembl 74_37 -1 known silent c.2145 p.P715 0.024 NULL NULL - no_errors AHDC1 HGNC ENSG00000126705 34 0 0 30 3 9.09091 ACTRT2 0 genome.wustl.edu 37 1 2938986 2938986 + Missense_Mutation SNP G G C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 1 2938986 2938986 G C SNP ACTRT2 ENST00000378404 human ensembl 74_37 +1 known missense c.736 p.D246H 0.998 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTRT2 HGNC ENSG00000169717 85 0 0 51 4 7.27273 CSMD2 0 genome.wustl.edu 37 1 34182101 34182101 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 1 34182101 34182101 C T SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.3002 p.G1001D 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 CSMD2 HGNC ENSG00000121904 39 0 0 14 3 17.6471 DIO1 0 genome.wustl.edu 37 1 54360179 54360179 + Missense_Mutation SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 1 54360179 54360179 G A SNP DIO1 ENST00000388876 human ensembl 74_37 +1 known missense c.296 p.R99H 0.001 pfam_Iodothyronine_deiodinase pfam_Iodothyronine_deiodinase - no_errors DIO1 HGNC ENSG00000211452 42 0 0 34 4 10.5263 GNG12 0 genome.wustl.edu 37 1 68171254 68171254 + Silent SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 1 68171254 68171254 C T SNP GNG12 ENST00000370982 human ensembl 74_37 -1 known silent c.99 p.S33 0.988 pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma - no_errors GNG12 HGNC ENSG00000172380 63 0 0 39 16 29.0909 LPPR4 0 genome.wustl.edu 37 1 99772187 99772187 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 1 99772187 99772187 C T SNP LPPR4 ENST00000370185 human ensembl 74_37 +1 known missense c.1913 p.S638F 1.000 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR4 Uniprot_gn ENSG00000117600 51 0 0 40 10 20 CACNB2 0 genome.wustl.edu 37 10 18827202 18827202 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 10 18827202 18827202 C T SNP CACNB2 ENST00000324631 human ensembl 74_37 +1 known missense c.1396 p.P466S 1.000 NULL pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b2su - no_errors CACNB2 HGNC ENSG00000165995 223 0 0 262 28 9.65517 NEBL 0 genome.wustl.edu 37 10 21461327 21461327 + Missense_Mutation SNP T T A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 10 21461327 21461327 T A SNP NEBL ENST00000417816 human ensembl 74_37 -1 known missense c.149 p.K50M 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Nebulin_35r-motif,pfam_Znf_LIM,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Znf_LIM,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors NEBL HGNC ENSG00000078114 56 0 0 69 8 10.3896 DIP2C 0 genome.wustl.edu 37 10 402365 402365 + Splice_Site SNP C C A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 10 402365 402365 C A SNP DIP2C ENST00000280886 human ensembl 74_37 -1 known splice_site c.2985+1 e24+1 1.000 - - - no_errors DIP2C HGNC ENSG00000151240 112 0 0 119 8 6.29921 NPY4R 0 genome.wustl.edu 37 10 47087071 47087071 + Silent SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 10 47087071 47087071 G A SNP NPY4R ENST00000374312 human ensembl 74_37 +1 known silent c.288 p.P96 0.025 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY4_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPY4R HGNC ENSG00000204174 186 0 0 161 14 8 NET1 0 genome.wustl.edu 37 10 5494816 5494816 + RNA SNP T T C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 10 5494816 5494816 T C SNP NET1 ENST00000486354 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors NET1 HGNC ENSG00000173848 103 0 0 121 16 11.6788 COL13A1 0 genome.wustl.edu 37 10 71684726 71684726 + Missense_Mutation SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 10 71684726 71684726 G A SNP COL13A1 ENST00000356340 human ensembl 74_37 +1 known missense c.1259 p.R420H 0.537 pfam_Collagen pfam_Collagen - no_errors COL13A1 HGNC ENSG00000197467 15 0 0 4 4 50 ECD 0 genome.wustl.edu 37 10 74906052 74906052 + Nonsense_Mutation SNP G G C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 10 74906052 74906052 G C SNP ECD ENST00000430082 human ensembl 74_37 -1 known nonsense c.1109 p.S370* 1.000 pfam_SGT1 pfam_SGT1 - no_errors ECD HGNC ENSG00000122882 52 0 0 32 9 21.9512 MSS51 0 genome.wustl.edu 37 10 75185821 75185821 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 10 75185821 75185821 C T SNP MSS51 ENST00000299432 human ensembl 74_37 -1 known missense c.817 p.V273M 1.000 NULL pfam_Znf_MYND,pfscan_Znf_MYND - no_errors MSS51 HGNC ENSG00000166343 63 0 0 52 13 20 DYNC2H1 0 genome.wustl.edu 37 11 103027275 103027275 + Silent SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 11 103027275 103027275 G A SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known silent c.3903 p.Q1301 1.000 pfam_Dynein_heavy_dom-2 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 129 0 0 130 10 7.14286 APOA4 0 genome.wustl.edu 37 11 116691969 116691969 + Missense_Mutation SNP G G C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 11 116691969 116691969 G C SNP APOA4 ENST00000357780 human ensembl 74_37 -1 known missense c.805 p.P269A 0.799 pfam_ApoA1_A4_E pfam_ApoA1_A4_E - no_errors APOA4 HGNC ENSG00000110244 94 0 0 80 5 5.88235 ETS1 0 genome.wustl.edu 37 11 128359355 128359355 + Missense_Mutation SNP C C A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 11 128359355 128359355 C A SNP ETS1 ENST00000392668 human ensembl 74_37 -1 known missense c.365 p.R122L 1.000 pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,pirsf_Transform_prot_C-ets pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pirsf_Transform_prot_C-ets,pfscan_Ets_dom,prints_Ets_dom - no_errors ETS1 HGNC ENSG00000134954 139 0 0 114 18 13.6364 TP53AIP1 0 genome.wustl.edu 37 11 128807499 128807499 + Missense_Mutation SNP C C G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 11 128807499 128807499 C G SNP TP53AIP1 ENST00000527504 human ensembl 74_37 -1 known missense c.215 p.G72A 0.000 NULL NULL - no_errors TP53AIP1 HGNC ENSG00000120471 73 0 0 56 8 12.5 CCDC73 0 genome.wustl.edu 37 11 32635062 32635062 + Missense_Mutation SNP C C G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 11 32635062 32635062 C G SNP CCDC73 ENST00000335185 human ensembl 74_37 -1 known missense c.2802 p.E934D 0.607 NULL NULL - no_errors CCDC73 HGNC ENSG00000186714 156 0 0 95 26 21.4876 OR5M8 0 genome.wustl.edu 37 11 56258070 56258070 + Silent SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 11 56258070 56258070 G A SNP OR5M8 ENST00000327216 human ensembl 74_37 -1 known silent c.777 p.L259 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M8 HGNC ENSG00000181371 95 0 0 70 16 18.6047 RTN4RL2 0 genome.wustl.edu 37 11 57244117 57244117 + Silent SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 11 57244117 57244117 C T SNP RTN4RL2 ENST00000335099 human ensembl 74_37 +1 known silent c.996 p.Y332 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors RTN4RL2 HGNC ENSG00000186907 18 0 0 8 4 33.3333 PHRF1 0 genome.wustl.edu 37 11 598413 598413 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 11 598413 598413 C T SNP PHRF1 ENST00000264555 human ensembl 74_37 +1 known missense c.935 p.A312V 1.000 NULL pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC ENSG00000070047 32 0 0 37 6 13.9535 PHRF1 0 genome.wustl.edu 37 11 607264 607264 + Missense_Mutation SNP A A G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 11 607264 607264 A G SNP PHRF1 ENST00000264555 human ensembl 74_37 +1 known missense c.1808 p.D603G 0.001 NULL pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC ENSG00000070047 126 0 0 77 31 28.7037 RTN3 0 genome.wustl.edu 37 11 63449014 63449014 + RNA SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 11 63449014 63449014 C T SNP RTN3 ENST00000338850 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RTN3 HGNC ENSG00000133318 16 0 0 16 5 23.8095 SF3B2 0 genome.wustl.edu 37 11 65827302 65827302 + Missense_Mutation SNP A A T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 11 65827302 65827302 A T SNP SF3B2 ENST00000322535 human ensembl 74_37 +1 known missense c.1451 p.D484V 1.000 pfam_DUF382 pfam_DUF382,pfam_PSP,pfam_SAP_dom,smart_SAP_dom,smart_PSP,pfscan_SAP_dom - no_errors SF3B2 HGNC ENSG00000087365 82 0 0 58 11 15.942 TCIRG1 0 genome.wustl.edu 37 11 67816583 67816583 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 11 67816583 67816583 C T SNP TCIRG1 ENST00000265686 human ensembl 74_37 +1 known missense c.1709 p.T570M 0.930 pfam_V-ATPase_116kDa_su pfam_V-ATPase_116kDa_su - no_errors TCIRG1 HGNC ENSG00000110719 145 0 0 107 23 17.6923 RBMXL2 0 genome.wustl.edu 37 11 7111351 7111351 + Missense_Mutation SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 11 7111351 7111351 G A SNP RBMXL2 ENST00000306904 human ensembl 74_37 +1 known missense c.1000 p.D334N 1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL2 HGNC ENSG00000170748 33 0 0 28 3 9.67742 SCUBE2 0 genome.wustl.edu 37 11 9048919 9048919 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 11 9048919 9048919 C T SNP SCUBE2 ENST00000457346 human ensembl 74_37 -1 known missense c.2693 p.R898Q 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors SCUBE2 HGNC ENSG00000175356 24 0 0 18 6 25 UTP20 0 genome.wustl.edu 37 12 101684666 101684666 + Silent SNP A A G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 12 101684666 101684666 A G SNP UTP20 ENST00000261637 human ensembl 74_37 +1 known silent c.891 p.Q297 0.994 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 72 0 0 55 9 14.0625 TRPV4 0 genome.wustl.edu 37 12 110232195 110232195 + Missense_Mutation SNP G G T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 12 110232195 110232195 G T SNP TRPV4 ENST00000261740 human ensembl 74_37 -1 known missense c.1430 p.S477Y 1.000 tigrfam_TRP_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel - no_errors TRPV4 HGNC ENSG00000111199 114 0 0 97 18 15.6522 LRTM2 0 genome.wustl.edu 37 12 1943618 1943618 + Missense_Mutation SNP G G C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 12 1943618 1943618 G C SNP LRTM2 ENST00000299194 human ensembl 74_37 +1 known missense c.844 p.G282R 0.642 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRTM2 HGNC ENSG00000166159 40 0 0 37 13 26 OVCH1 0 genome.wustl.edu 37 12 29596410 29596410 + Missense_Mutation SNP G G C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 12 29596410 29596410 G C SNP OVCH1 ENST00000318184 human ensembl 74_37 -1 known missense c.3041 p.P1014R 0.036 superfamily_CUB_dom pfam_Peptidase_S1,pfam_CUB_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,smart_Peptidase_S1,smart_CUB_dom,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors OVCH1 HGNC ENSG00000187950 142 0 0 157 11 6.54762 WNT1 0 genome.wustl.edu 37 12 49373448 49373448 + Missense_Mutation SNP G G T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 12 49373448 49373448 G T SNP WNT1 ENST00000293549 human ensembl 74_37 +1 known missense c.302 p.R101L 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt1 - no_errors WNT1 HGNC ENSG00000125084 63 0 0 35 10 22.2222 KRT83 0 genome.wustl.edu 37 12 52714852 52714852 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 12 52714852 52714852 C T SNP KRT83 ENST00000293670 human ensembl 74_37 -1 known missense c.268 p.E90K 1.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT83 HGNC ENSG00000170523 160 0 0 110 37 25.1701 NEUROD4 0 genome.wustl.edu 37 12 55420636 55420636 + Missense_Mutation SNP C C A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 12 55420636 55420636 C A SNP NEUROD4 ENST00000242994 human ensembl 74_37 +1 known missense c.413 p.A138D 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD4 HGNC ENSG00000123307 102 0 0 73 14 16.092 ARHGEF25 0 genome.wustl.edu 37 12 58009044 58009044 + Missense_Mutation SNP G G T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 12 58009044 58009044 G T SNP ARHGEF25 ENST00000333972 human ensembl 74_37 +1 known missense c.1102 p.V368L 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF25 HGNC ENSG00000240771 45 0 0 32 4 11.1111 NAV3 0 genome.wustl.edu 37 12 78334097 78334097 + Splice_Site SNP A A G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 12 78334097 78334097 A G SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known splice_site c.244-2 e2-2 1.000 - - - no_errors NAV3 HGNC ENSG00000067798 194 0 0 218 12 5.21739 NAV3 0 genome.wustl.edu 37 12 78573323 78573323 + Missense_Mutation SNP C C A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 12 78573323 78573323 C A SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known missense c.5378 p.T1793K 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 81 0 0 75 7 8.53659 SLC2A3 0 genome.wustl.edu 37 12 8074090 8074090 + Silent SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 12 8074090 8074090 G A SNP SLC2A3 ENST00000075120 human ensembl 74_37 -1 known silent c.1410 p.H470 0.000 NULL pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_3,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A3 HGNC ENSG00000059804 266 0 0 188 13 6.46766 SLC6A15 0 genome.wustl.edu 37 12 85257370 85257370 + Missense_Mutation SNP C C A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 12 85257370 85257370 C A SNP SLC6A15 ENST00000266682 human ensembl 74_37 -1 known missense c.1666 p.D556Y 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A15 HGNC ENSG00000072041 80 0 0 77 7 8.33333 ANKRD10 0 genome.wustl.edu 37 13 111563089 111563089 + Missense_Mutation SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 13 111563089 111563089 G A SNP ANKRD10 ENST00000267339 human ensembl 74_37 -1 known missense c.239 p.A80V 0.998 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD10 HGNC ENSG00000088448 43 0 0 47 6 11.3208 TPTE2 0 genome.wustl.edu 37 13 20025355 20025355 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 13 20025355 20025355 C T SNP TPTE2 ENST00000382977 human ensembl 74_37 -1 known missense c.752 p.R251Q 0.984 pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE2 HGNC ENSG00000132958 67 0 0 52 18 25.7143 PCDH17 0 genome.wustl.edu 37 13 58207577 58207577 + Missense_Mutation SNP G G C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 13 58207577 58207577 G C SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.897 p.K299N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 53 0 0 57 3 5 DOCK9 0 genome.wustl.edu 37 13 99532820 99532820 + Missense_Mutation SNP G G T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 13 99532820 99532820 G T SNP DOCK9 ENST00000339416 human ensembl 74_37 -1 known missense c.2855 p.T952N 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK9 HGNC ENSG00000088387 42 0 0 45 4 8.16327 AKAP6 0 genome.wustl.edu 37 14 33290805 33290805 + Silent SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 14 33290805 33290805 C T SNP AKAP6 ENST00000280979 human ensembl 74_37 +1 known silent c.3786 p.D1262 0.901 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 49 0 0 45 9 16.6667 SOS2 0 genome.wustl.edu 37 14 50587046 50587046 + Missense_Mutation SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 14 50587046 50587046 G A SNP SOS2 ENST00000216373 human ensembl 74_37 -1 known missense c.3436 p.P1146S 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS2 HGNC ENSG00000100485 69 0 0 55 6 9.83607 NPAP1 0 genome.wustl.edu 37 15 24921098 24921098 + Silent SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 15 24921098 24921098 G A SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known silent c.84 p.L28 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 32 0 0 9 6 40 MEGF11 0 genome.wustl.edu 37 15 66191074 66191074 + Missense_Mutation SNP T T C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 15 66191074 66191074 T C SNP MEGF11 ENST00000409699 human ensembl 74_37 -1 known missense c.2966 p.Y989C 1.000 NULL pfam_EGF_laminin,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_EMI_domain - no_errors MEGF11 HGNC ENSG00000157890 111 0 0 75 15 16.6667 NR2F2 0 genome.wustl.edu 37 15 96877403 96877403 + Missense_Mutation SNP T T C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 15 96877403 96877403 T C SNP NR2F2 ENST00000394166 human ensembl 74_37 +1 known missense c.541 p.Y181H 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,prints_COUP_TF pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors NR2F2 HGNC ENSG00000185551 230 0 0 156 25 13.8122 CLCN7 0 genome.wustl.edu 37 16 1505133 1505133 + Splice_Site SNP A A G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 16 1505133 1505133 A G SNP CLCN7 ENST00000382745 human ensembl 74_37 -1 known splice_site c.1098+2 e12+2 0.999 - - - no_errors CLCN7 HGNC ENSG00000103249 100 0 0 86 27 23.8938 CD2BP2 0 genome.wustl.edu 37 16 30364821 30364821 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 16 30364821 30364821 C T SNP CD2BP2 ENST00000305596 human ensembl 74_37 -1 known missense c.676 p.A226T 1.000 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors CD2BP2 HGNC ENSG00000169217 63 0 0 66 10 13.1579 CNTNAP4 0 genome.wustl.edu 37 16 76569621 76569621 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 16 76569621 76569621 C T SNP CNTNAP4 ENST00000307431 human ensembl 74_37 +1 known missense c.2932 p.P978S 0.993 superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP4 HGNC ENSG00000152910 53 0 0 37 14 27.451 SGSM2 0 genome.wustl.edu 37 17 2266799 2266799 + Missense_Mutation SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 17 2266799 2266799 G A SNP SGSM2 ENST00000268989 human ensembl 74_37 +1 known missense c.713 p.R238K 0.999 NULL pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM2 HGNC ENSG00000141258 21 0 0 31 3 8.82353 SLC13A2 0 genome.wustl.edu 37 17 26816245 26816245 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 17 26816245 26816245 C T SNP SLC13A2 ENST00000444914 human ensembl 74_37 +1 known missense c.116 p.A39V 0.970 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A2 HGNC ENSG00000007216 81 0 0 87 8 8.42105 ACACA 0 genome.wustl.edu 37 17 35454770 35454770 + Missense_Mutation SNP T T C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 17 35454770 35454770 T C SNP ACACA ENST00000353139 human ensembl 74_37 -1 known missense c.6715 p.I2239V 1.000 pfam_Carboxyl_trans pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 99 0 0 165 11 6.25 KRT33B 0 genome.wustl.edu 37 17 39525885 39525885 + Missense_Mutation SNP T T A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 17 39525885 39525885 T A SNP KRT33B ENST00000251646 human ensembl 74_37 -1 known missense c.118 p.N40Y 0.999 NULL pfam_IF,prints_Keratin_I - no_errors KRT33B HGNC ENSG00000131738 100 0 0 275 16 5.49828 PLCD3 0 genome.wustl.edu 37 17 43197709 43197709 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 17 43197709 43197709 C T SNP PLCD3 ENST00000322765 human ensembl 74_37 -1 known missense c.667 p.A223T 1.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD3 HGNC ENSG00000161714 43 0 0 24 7 22.5806 DDX5 0 genome.wustl.edu 37 17 62500356 62500356 + Nonsense_Mutation SNP A A C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 17 62500356 62500356 A C SNP DDX5 ENST00000225792 human ensembl 74_37 -1 known nonsense c.291 p.Y97* 0.997 pfscan_RNA_helicase_DEAD_Q_motif pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_P68HR,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX5 HGNC ENSG00000108654 94 0 0 91 14 13.3333 TP53 0 genome.wustl.edu 37 17 7579368 7579368 + Missense_Mutation SNP A A C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 17 7579368 7579368 A C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.319 p.Y107D 0.906 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 95 0 0 41 20 32.7869 SOCS3 0 genome.wustl.edu 37 17 76354533 76354533 + Missense_Mutation SNP C C A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 17 76354533 76354533 C A SNP SOCS3 ENST00000330871 human ensembl 74_37 -1 known missense c.644 p.R215L 1.000 pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS3 HGNC ENSG00000184557 63 0 0 45 11 19.6429 SOCS3 0 genome.wustl.edu 37 17 76354534 76354534 + Missense_Mutation SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 17 76354534 76354534 G A SNP SOCS3 ENST00000330871 human ensembl 74_37 -1 known missense c.643 p.R215W 1.000 pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS3 HGNC ENSG00000184557 63 0 0 46 11 19.2982 USP36 0 genome.wustl.edu 37 17 76803161 76803161 + Silent SNP T T C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 17 76803161 76803161 T C SNP USP36 ENST00000312010 human ensembl 74_37 -1 known silent c.1965 p.P655 0.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP36 HGNC ENSG00000055483 80 0 0 50 10 16.6667 CANT1 0 genome.wustl.edu 37 17 76989930 76989930 + Missense_Mutation SNP C C G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 17 76989930 76989930 C G SNP CANT1 ENST00000302345 human ensembl 74_37 -1 known missense c.908 p.S303T 1.000 pfam_Apyrase,superfamily_Apyrase pfam_Apyrase,superfamily_Apyrase - no_errors CANT1 HGNC ENSG00000171302 23 0 0 13 5 27.7778 MYH10 0 genome.wustl.edu 37 17 8415782 8415782 + Missense_Mutation SNP T T G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 17 8415782 8415782 T G SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known missense c.2909 p.Q970P 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 64 0 0 49 4 7.54717 CCDC178 0 genome.wustl.edu 37 18 30847250 30847250 + Missense_Mutation SNP C C A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 18 30847250 30847250 C A SNP CCDC178 ENST00000406524 human ensembl 74_37 -1 known missense c.1188 p.L396F 0.008 NULL NULL - no_errors CCDC178 HGNC ENSG00000166960 96 0 0 127 19 13.0137 C18orf54 0 genome.wustl.edu 37 18 51904563 51904563 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 18 51904563 51904563 C T SNP C18orf54 ENST00000300091 human ensembl 74_37 +1 known missense c.1066 p.R356C 1.000 NULL NULL - no_errors C18orf54 HGNC ENSG00000166845 38 0 0 32 13 28.8889 WIZ 0 genome.wustl.edu 37 19 15538061 15538061 + Silent SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 19 15538061 15538061 G A SNP WIZ ENST00000389282 human ensembl 74_37 -1 known silent c.3384 p.P1128 0.179 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC ENSG00000011451 81 0 0 80 7 8.04598 PIK3R2 0 genome.wustl.edu 37 19 18273284 18273284 + Missense_Mutation SNP C C G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 19 18273284 18273284 C G SNP PIK3R2 ENST00000222254 human ensembl 74_37 +1 known missense c.1077 p.S359R 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R2 HGNC ENSG00000105647 45 0 0 42 3 6.66667 CLIP3 0 genome.wustl.edu 37 19 36515332 36515332 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 19 36515332 36515332 C T SNP CLIP3 ENST00000360535 human ensembl 74_37 -1 known missense c.884 p.R295H 1.000 superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain - no_errors CLIP3 HGNC ENSG00000105270 66 0 0 49 7 12.5 KCNK6 0 genome.wustl.edu 37 19 38817329 38817329 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 19 38817329 38817329 C T SNP KCNK6 ENST00000263372 human ensembl 74_37 +1 known missense c.419 p.A140V 0.428 pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TWIK,prints_2pore_dom_K_chnl_TWIK1 pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TWIK2,prints_2pore_dom_K_chnl_TWIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TWIK1 - no_errors KCNK6 HGNC ENSG00000099337 87 0 0 107 6 5.30973 SPTBN4 0 genome.wustl.edu 37 19 41077990 41077990 + Missense_Mutation SNP G G T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 19 41077990 41077990 G T SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known missense c.7385 p.G2462V 1.000 pirsf_Spectrin_bsu,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 300 0 0 324 47 12.6685 GPR32 0 genome.wustl.edu 37 19 51274341 51274341 + Missense_Mutation SNP G G C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 19 51274341 51274341 G C SNP GPR32 ENST00000270590 human ensembl 74_37 +1 known missense c.484 p.A162P 0.878 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_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors GPR32 HGNC ENSG00000142511 105 0 0 88 22 20 ZNF175 0 genome.wustl.edu 37 19 52091638 52091638 + Missense_Mutation SNP A A G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 19 52091638 52091638 A G SNP ZNF175 ENST00000262259 human ensembl 74_37 +1 known missense c.2054 p.N685S 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 ZNF175 HGNC ENSG00000105497 51 0 0 46 7 13.2075 FBN3 0 genome.wustl.edu 37 19 8140221 8140221 + Missense_Mutation SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 19 8140221 8140221 G A SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known missense c.7528 p.R2510C 0.994 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 55 0 0 37 6 13.9535 IL1RL2 0 genome.wustl.edu 37 2 102842401 102842401 + Silent SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 2 102842401 102842401 G A SNP IL1RL2 ENST00000264257 human ensembl 74_37 +1 known silent c.1035 p.L345 0.004 prints_IL-1_rcpt_I-typ pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ,prints_IL-1_rcpt_I-typ - no_errors IL1RL2 HGNC ENSG00000115598 44 0 0 45 4 8.16327 LRP1B 0 genome.wustl.edu 37 2 141665568 141665568 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 2 141665568 141665568 C T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.3398 p.S1133N 0.998 smart_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 91 0 0 80 6 6.97674 TPO 0 genome.wustl.edu 37 2 1500379 1500379 + Missense_Mutation SNP G G T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 2 1500379 1500379 G T SNP TPO ENST00000329066 human ensembl 74_37 +1 known missense c.2228 p.G743V 0.994 superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 168 0 0 147 13 8.125 APOB 0 genome.wustl.edu 37 2 21238012 21238012 + Missense_Mutation SNP C C G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 2 21238012 21238012 C G SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.3629 p.R1210T 0.000 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 144 0 0 144 8 5.26316 TNS1 0 genome.wustl.edu 37 2 218747129 218747129 + Nonsense_Mutation SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 2 218747129 218747129 G A SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known nonsense c.877 p.R293* 1.000 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 77 0 0 67 8 10.6667 BIRC6 0 genome.wustl.edu 37 2 32640080 32640080 + Missense_Mutation SNP C C A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 2 32640080 32640080 C A SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known missense c.1721 p.T574K 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 38 0 0 45 5 10 LGALSL 0 genome.wustl.edu 37 2 64685502 64685502 + Missense_Mutation SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 2 64685502 64685502 G A SNP LGALSL ENST00000409537 human ensembl 74_37 +1 putative missense c.281 p.R94H 0.132 NULL superfamily_ConA-like_lec_gl_sf - no_errors LGALSL HGNC ENSG00000119862 191 0 0 186 16 7.92079 GFPT1 0 genome.wustl.edu 37 2 69569333 69569333 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 2 69569333 69569333 C T SNP GFPT1 ENST00000357308 human ensembl 74_37 -1 known missense c.1154 p.R385Q 1.000 pfam_SIS,tigrfam_GlmS_trans pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT1 HGNC ENSG00000198380 301 0 0 319 32 9.11681 SPR 0 genome.wustl.edu 37 2 73118535 73118535 + Nonsense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 2 73118535 73118535 C T SNP SPR ENST00000234454 human ensembl 74_37 +1 known nonsense c.655 p.R219* 0.012 tigrfam_Sepiapterin_red pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,tigrfam_Sepiapterin_red - no_errors SPR HGNC ENSG00000116096 72 0 0 75 19 20.2128 MOGS 0 genome.wustl.edu 37 2 74689430 74689430 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 2 74689430 74689430 C T SNP MOGS ENST00000233616 human ensembl 74_37 -1 known missense c.1486 p.A496T 1.000 pfam_Glycoside_hydrolase_63,superfamily_6-hairpin_glycosidase-like pfam_Glycoside_hydrolase_63,superfamily_6-hairpin_glycosidase-like - no_errors MOGS HGNC ENSG00000115275 80 0 0 74 14 15.9091 TEKT4 0 genome.wustl.edu 37 2 95537520 95537520 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 2 95537520 95537520 C T SNP TEKT4 ENST00000295201 human ensembl 74_37 +1 known missense c.196 p.R66W 0.995 pfam_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT4 HGNC ENSG00000163060 46 0 0 49 20 28.9855 FAM182B 0 genome.wustl.edu 37 20 25848606 25848606 + RNA SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 20 25848606 25848606 G A SNP FAM182B ENST00000424021 human ensembl 74_37 -1 known rna NULL NULL 0.028 - - - no_errors FAM182B HGNC ENSG00000175170 9 0 0 12 4 25 AVP 0 genome.wustl.edu 37 20 3065247 3065247 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 20 3065247 3065247 C T SNP AVP ENST00000380293 human ensembl 74_37 -1 known missense c.74 p.C25Y 1.000 pirsf_Neurhyp_horm,prints_Neurhyp_horm pfam_Neurhyp_horm,superfamily_Neurhyp_horm,smart_Neurhyp_horm,pirsf_Neurhyp_horm,prints_Neurhyp_horm - no_errors AVP HGNC ENSG00000101200 175 0 0 254 21 7.63636 AAR2 0 genome.wustl.edu 37 20 34832803 34832803 + Silent SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 20 34832803 34832803 C T SNP AAR2 ENST00000320849 human ensembl 74_37 +1 known silent c.942 p.F314 0.995 pfam_AAR2 pfam_AAR2 - no_errors AAR2 HGNC ENSG00000131043 97 0 0 91 5 5.20833 TPTE 0 genome.wustl.edu 37 21 10907025 10907025 + Missense_Mutation SNP T T G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 21 10907025 10907025 T G SNP TPTE ENST00000361285 human ensembl 74_37 -1 known missense c.1536 p.K512N 0.962 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 54 0 0 48 8 14.2857 ADAMTS1 0 genome.wustl.edu 37 21 28212246 28212246 + Silent SNP G G C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 21 28212246 28212246 G C SNP ADAMTS1 ENST00000284984 human ensembl 74_37 -1 known silent c.1800 p.G600 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS1 HGNC ENSG00000154734 169 0 0 134 22 14.1026 AIRE 0 genome.wustl.edu 37 21 45710762 45710762 + Missense_Mutation SNP G G C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 21 45710762 45710762 G C SNP AIRE ENST00000355347 human ensembl 74_37 +1 known missense c.73 p.G25R 0.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors AIRE HGNC ENSG00000160224 147 0 0 93 11 10.5769 KIAA2018 0 genome.wustl.edu 37 3 113377235 113377235 + Missense_Mutation SNP G G C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 3 113377235 113377235 G C SNP KIAA2018 ENST00000316407 human ensembl 74_37 -1 known missense c.3294 p.F1098L 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 149 0 0 113 22 16.2963 RBP1 0 genome.wustl.edu 37 3 139236484 139236484 + Silent SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 3 139236484 139236484 G A SNP RBP1 ENST00000232219 human ensembl 74_37 -1 known silent c.579 p.F193 1.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors RBP1 HGNC ENSG00000114115 170 0 0 129 32 19.8758 LINC00969 0 genome.wustl.edu 37 3 195400799 195400799 + RNA SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 3 195400799 195400799 G A SNP LINC00969 ENST00000414625 human ensembl 74_37 +1 known rna NULL NULL 0.992 - - - no_errors LINC00969 HGNC ENSG00000242086 44 0 0 47 7 12.963 TMPPE 0 genome.wustl.edu 37 3 33135129 33135129 + Missense_Mutation SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 3 33135129 33135129 G A SNP TMPPE ENST00000342462 human ensembl 74_37 -1 known missense c.559 p.P187S 1.000 NULL pfam_PEstase_dom - no_errors TMPPE HGNC ENSG00000188167 55 0 0 31 10 24.3902 NBEAL2 0 genome.wustl.edu 37 3 47042669 47042669 + Missense_Mutation SNP G G C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 3 47042669 47042669 G C SNP NBEAL2 ENST00000450053 human ensembl 74_37 +1 known missense c.4484 p.S1495T 1.000 NULL 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 32 0 0 23 8 25.8065 MAP4 0 genome.wustl.edu 37 3 47951317 47951317 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 3 47951317 47951317 C T SNP MAP4 ENST00000264724 human ensembl 74_37 -1 known missense c.415 p.E139K 0.723 NULL pfam_MAP_tubulin-bd_rpt - no_errors MAP4 HGNC ENSG00000047849 137 0 0 105 16 13.2231 ARIH2 0 genome.wustl.edu 37 3 49006074 49006074 + Missense_Mutation SNP A A G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 3 49006074 49006074 A G SNP ARIH2 ENST00000356401 human ensembl 74_37 +1 known missense c.646 p.R216G 1.000 pfam_Znf_C6HC,smart_Znf_C6HC pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors ARIH2 HGNC ENSG00000177479 168 0 0 133 14 9.52381 CACNA1D 0 genome.wustl.edu 37 3 53778854 53778854 + Silent SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 3 53778854 53778854 G A SNP CACNA1D ENST00000288139 human ensembl 74_37 +1 known silent c.3066 p.K1022 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 72 0 0 43 10 18.8679 PDZRN3 0 genome.wustl.edu 37 3 73433107 73433107 + Silent SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 3 73433107 73433107 G A SNP PDZRN3 ENST00000263666 human ensembl 74_37 -1 known silent c.2610 p.H870 0.986 NULL pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors PDZRN3 HGNC ENSG00000121440 89 0 0 57 8 12.3077 EPHA6 0 genome.wustl.edu 37 3 97356746 97356746 + Missense_Mutation SNP G G C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 3 97356746 97356746 G C SNP EPHA6 ENST00000389672 human ensembl 74_37 +1 known missense c.2604 p.Q868H 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,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_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,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA6 HGNC ENSG00000080224 193 0 0 149 14 8.58896 CENPE 0 genome.wustl.edu 37 4 104101522 104101522 + Silent SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 4 104101522 104101522 G A SNP CENPE ENST00000265148 human ensembl 74_37 -1 known silent c.1188 p.N396 0.990 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 136 0 0 89 8 8.24742 SYNPO2 0 genome.wustl.edu 37 4 119951305 119951305 + Missense_Mutation SNP G G T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 4 119951305 119951305 G T SNP SYNPO2 ENST00000307142 human ensembl 74_37 +1 known missense c.1375 p.V459F 0.050 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2 HGNC ENSG00000172403 76 0 0 48 10 17.2414 PCDH10 0 genome.wustl.edu 37 4 134072365 134072365 + Missense_Mutation SNP A A C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 4 134072365 134072365 A C SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.1070 p.E357A 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 110 0 0 80 6 6.97674 DCLK2 0 genome.wustl.edu 37 4 151170753 151170753 + Missense_Mutation SNP G G C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 4 151170753 151170753 G C SNP DCLK2 ENST00000302176 human ensembl 74_37 +1 known missense c.2041 p.E681Q 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK2 HGNC ENSG00000170390 109 0 0 94 7 6.93069 PPARGC1A 0 genome.wustl.edu 37 4 23886497 23886497 + Missense_Mutation SNP G G C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 4 23886497 23886497 G C SNP PPARGC1A ENST00000264867 human ensembl 74_37 -1 known missense c.112 p.L38V 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1A HGNC ENSG00000109819 45 0 0 42 5 10.6383 HGFAC 0 genome.wustl.edu 37 4 3446377 3446377 + Missense_Mutation SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 4 3446377 3446377 G A SNP HGFAC ENST00000382774 human ensembl 74_37 +1 known missense c.758 p.G253E 0.991 pirsf_Coagulation_fac_XIIa/HGFA,pfam_EG-like_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGFAC HGNC ENSG00000109758 26 0 0 13 5 27.7778 C4orf19 0 genome.wustl.edu 37 4 37592414 37592414 + Missense_Mutation SNP T T G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 4 37592414 37592414 T G SNP C4orf19 ENST00000284437 human ensembl 74_37 +1 known missense c.737 p.V246G 0.001 NULL NULL - no_errors C4orf19 HGNC ENSG00000154274 74 0 0 58 12 17.1429 CDKL2 0 genome.wustl.edu 37 4 76539472 76539472 + Missense_Mutation SNP A A C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 4 76539472 76539472 A C SNP CDKL2 ENST00000429927 human ensembl 74_37 -1 known missense c.330 p.I110M 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDKL2 HGNC ENSG00000138769 60 0 0 35 4 10.2564 RASGEF1B 0 genome.wustl.edu 37 4 82369254 82369254 + Missense_Mutation SNP G G C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 4 82369254 82369254 G C SNP RASGEF1B ENST00000264400 human ensembl 74_37 -1 known missense c.623 p.T208R 0.999 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGEF1B HGNC ENSG00000138670 178 0 0 125 18 12.5874 IDUA 0 genome.wustl.edu 37 4 995716 995716 + Missense_Mutation SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 4 995716 995716 G A SNP IDUA ENST00000453894 human ensembl 74_37 +1 known missense c.698 p.R233H 0.000 NULL pfam_Glyco_hydro_39,superfamily_Glycoside_hydrolase_SF,superfamily_Fibronectin_type3,prints_Glyco_hydro_39 - no_errors IDUA HGNC ENSG00000127415 14 0 0 0 2 100 SLCO4C1 0 genome.wustl.edu 37 5 101631703 101631703 + Nonsense_Mutation SNP G G C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 5 101631703 101631703 G C SNP SLCO4C1 ENST00000310954 human ensembl 74_37 -1 known nonsense c.264 p.Y88* 1.000 superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO4C1 HGNC ENSG00000173930 68 0 0 58 7 10.7692 APC 0 genome.wustl.edu 37 5 112177901 112177901 + Nonsense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 5 112177901 112177901 C T SNP APC ENST00000257430 human ensembl 74_37 +1 known nonsense c.6610 p.R2204* 0.999 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 119 0 0 64 51 44.3478 PCDHA8 0 genome.wustl.edu 37 5 140222761 140222761 + Missense_Mutation SNP C C A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 5 140222761 140222761 C A SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known missense c.1855 p.R619S 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 66 0 0 48 26 35.1351 PCDHGB3 0 genome.wustl.edu 37 5 140751796 140751796 + Missense_Mutation SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 5 140751796 140751796 G A SNP PCDHGB3 ENST00000576222 human ensembl 74_37 +1 known missense c.1835 p.S612N 0.986 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB3 HGNC ENSG00000262209 115 0 0 73 14 16.092 PCDHGC5 0 genome.wustl.edu 37 5 140870921 140870921 + Missense_Mutation SNP C C G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 5 140870921 140870921 C G SNP PCDHGC5 ENST00000252087 human ensembl 74_37 +1 known missense c.2114 p.S705C 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC5 HGNC ENSG00000240764 267 1 0.373134 169 21 11.0526 FAT2 0 genome.wustl.edu 37 5 150914081 150914081 + Missense_Mutation SNP C C G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 5 150914081 150914081 C G SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.9316 p.V3106L 0.998 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 57 0 0 49 8 14.0351 NSD1 0 genome.wustl.edu 37 5 176637132 176637132 + Missense_Mutation SNP G G T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 5 176637132 176637132 G T SNP NSD1 ENST00000439151 human ensembl 74_37 +1 known missense c.1732 p.A578S 0.864 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 120 0 0 108 17 13.6 FLT4 0 genome.wustl.edu 37 5 180030234 180030234 + Silent SNP G G T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 5 180030234 180030234 G T SNP FLT4 ENST00000261937 human ensembl 74_37 -1 known silent c.4050 p.S1350 0.010 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt - no_errors FLT4 HGNC ENSG00000037280 61 0 0 35 7 16.6667 PRDM9 0 genome.wustl.edu 37 5 23521174 23521174 + Nonsense_Mutation SNP G G T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 5 23521174 23521174 G T SNP PRDM9 ENST00000296682 human ensembl 74_37 +1 known nonsense c.394 p.E132* 0.007 NULL pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 87 0 0 59 9 13.2353 NNT 0 genome.wustl.edu 37 5 43653307 43653307 + Missense_Mutation SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 5 43653307 43653307 G A SNP NNT ENST00000264663 human ensembl 74_37 +1 known missense c.2051 p.G684D 1.000 pfam_NADH_DH_b pfam_NADH_DH_b,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N,tigrfam_NADP_transhyd_a - no_errors NNT HGNC ENSG00000112992 41 0 0 16 12 42.8571 ENSG00000251606 0 genome.wustl.edu 37 5 96518939 96518939 + Missense_Mutation SNP C C G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 5 96518939 96518939 C G SNP ENSG00000251606 ENST00000509481 human ensembl 74_37 +1 putative missense c.260 p.A87G 0.000 NULL NULL - no_errors CTD-2215E18.1 Clone_based_vega_gene ENSG00000251606 67 0 0 53 5 8.62069 HIVEP1 0 genome.wustl.edu 37 6 12120526 12120526 + Silent SNP T T C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 6 12120526 12120526 T C SNP HIVEP1 ENST00000379388 human ensembl 74_37 +1 known silent c.498 p.S166 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 132 0 0 131 53 28.8043 UTRN 0 genome.wustl.edu 37 6 144858786 144858786 + Missense_Mutation SNP C C A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 6 144858786 144858786 C A SNP UTRN ENST00000367545 human ensembl 74_37 +1 known missense c.6302 p.T2101K 0.061 smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 27 0 0 27 9 25 SYNE1 0 genome.wustl.edu 37 6 152658021 152658021 + Silent SNP A A G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 6 152658021 152658021 A G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.12483 p.S4161 0.353 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 154 0 0 106 22 17.1875 SYNE1 0 genome.wustl.edu 37 6 152671388 152671388 + Missense_Mutation SNP A A G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 6 152671388 152671388 A G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.11816 p.L3939P 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 119 0 0 75 19 20.2128 NUP153 0 genome.wustl.edu 37 6 17629536 17629536 + Missense_Mutation SNP G G C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 6 17629536 17629536 G C SNP NUP153 ENST00000537253 human ensembl 74_37 -1 known missense c.2987 p.S996C 0.998 NULL pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors NUP153 HGNC ENSG00000124789 100 0 0 113 8 6.61157 HIST1H3D 0 genome.wustl.edu 37 6 26197279 26197279 + Missense_Mutation SNP G G C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 6 26197279 26197279 G C SNP HIST1H3D ENST00000356476 human ensembl 74_37 -1 known missense c.200 p.P67R 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3D HGNC ENSG00000197409 107 0 0 78 15 16.129 OR2J2 0 genome.wustl.edu 37 6 29141962 29141962 + Missense_Mutation SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 6 29141962 29141962 G A SNP OR2J2 ENST00000377167 human ensembl 74_37 +1 known missense c.550 p.A184T 0.980 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2J2 HGNC ENSG00000204700 179 0 0 204 12 5.55556 FAM50B 0 genome.wustl.edu 37 6 3850733 3850733 + Missense_Mutation SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 6 3850733 3850733 G A SNP FAM50B ENST00000380272 human ensembl 74_37 +1 novel missense c.688 p.A230T 0.872 pfam_XAP5 pfam_XAP5 - no_errors FAM50B HGNC ENSG00000145945 74 0 0 66 5 7.04225 PHF3 0 genome.wustl.edu 37 6 64422326 64422326 + Silent SNP T T C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 6 64422326 64422326 T C SNP PHF3 ENST00000262043 human ensembl 74_37 +1 known silent c.4842 p.S1614 1.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors PHF3 HGNC ENSG00000118482 57 0 0 53 11 17.1875 HTR1E 0 genome.wustl.edu 37 6 87725916 87725916 + Silent SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 6 87725916 87725916 G A SNP HTR1E ENST00000305344 human ensembl 74_37 +1 known silent c.864 p.K288 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR1E HGNC ENSG00000168830 171 0 0 132 10 7.04225 MUC17 0 genome.wustl.edu 37 7 100685356 100685356 + Silent SNP A A G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 7 100685356 100685356 A G SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known silent c.10659 p.Q3553 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 395 0 0 378 63 14.2857 PLOD3 0 genome.wustl.edu 37 7 100855607 100855607 + Missense_Mutation SNP C C A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 7 100855607 100855607 C A SNP PLOD3 ENST00000223127 human ensembl 74_37 -1 known missense c.1054 p.D352Y 0.997 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD3 HGNC ENSG00000106397 75 0 0 104 8 7.14286 LRRN3 0 genome.wustl.edu 37 7 110764339 110764339 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 7 110764339 110764339 C T SNP LRRN3 ENST00000308478 human ensembl 74_37 +1 known missense c.1511 p.A504V 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRRN3 HGNC ENSG00000173114 64 0 0 93 6 6.06061 LRGUK 0 genome.wustl.edu 37 7 133876492 133876492 + Missense_Mutation SNP A A T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 7 133876492 133876492 A T SNP LRGUK ENST00000285928 human ensembl 74_37 +1 known missense c.1420 p.M474L 1.000 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pfam_GK/Ca_channel_bsu,pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like - no_errors LRGUK HGNC ENSG00000155530 65 0 0 82 10 10.8696 CLCN1 0 genome.wustl.edu 37 7 143048760 143048760 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 7 143048760 143048760 C T SNP CLCN1 ENST00000343257 human ensembl 74_37 +1 known missense c.2669 p.T890M 0.835 NULL pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl_channel-1 - no_errors CLCN1 HGNC ENSG00000188037 71 0 0 57 5 8.06452 BZW2 0 genome.wustl.edu 37 7 16745690 16745690 + Missense_Mutation SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 7 16745690 16745690 G A SNP BZW2 ENST00000258761 human ensembl 74_37 +1 known missense c.1237 p.E413K 1.000 pfam_W2_domain pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain - no_errors BZW2 HGNC ENSG00000136261 95 0 0 73 32 30.4762 ABCA13 0 genome.wustl.edu 37 7 48559652 48559652 + Missense_Mutation SNP T T C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 7 48559652 48559652 T C SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.13813 p.Y4605H 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 35 0 0 37 4 9.7561 DLC1 0 genome.wustl.edu 37 8 13072247 13072247 + Missense_Mutation SNP T T A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 8 13072247 13072247 T A SNP DLC1 ENST00000316609 human ensembl 74_37 -1 known missense c.1385 p.K462M 0.419 NULL NULL - no_errors DLC1 HGNC ENSG00000164741 135 0 0 82 9 9.89011 ADCY8 0 genome.wustl.edu 37 8 131795942 131795942 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 8 131795942 131795942 C T SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known missense c.3263 p.R1088Q 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 66 0 0 65 19 22.619 BAI1 0 genome.wustl.edu 37 8 143570781 143570781 + Missense_Mutation SNP G G C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 8 143570781 143570781 G C SNP BAI1 ENST00000323289 human ensembl 74_37 +1 known missense c.2613 p.E871D 1.000 NULL pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC ENSG00000181790 109 0 0 142 11 7.18954 FAM160B2 0 genome.wustl.edu 37 8 21959240 21959240 + Missense_Mutation SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 8 21959240 21959240 G A SNP FAM160B2 ENST00000289921 human ensembl 74_37 +1 known missense c.1729 p.V577I 0.999 NULL pfam_RetinoicA-induced_16-like - no_errors FAM160B2 HGNC ENSG00000158863 20 0 0 14 3 17.6471 HOOK3 0 genome.wustl.edu 37 8 42868523 42868523 + Missense_Mutation SNP G G C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 8 42868523 42868523 G C SNP HOOK3 ENST00000307602 human ensembl 74_37 +1 known missense c.1996 p.V666L 1.000 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_t-SNARE - no_errors HOOK3 HGNC ENSG00000168172 146 0 0 150 12 7.40741 LYN 0 genome.wustl.edu 37 8 56910959 56910959 + Missense_Mutation SNP C C G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 8 56910959 56910959 C G SNP LYN ENST00000519728 human ensembl 74_37 +1 known missense c.1105 p.R369G 0.875 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors LYN HGNC ENSG00000254087 63 0 0 78 5 6.0241 IMPAD1 0 genome.wustl.edu 37 8 57878831 57878831 + Missense_Mutation SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 8 57878831 57878831 G A SNP IMPAD1 ENST00000262644 human ensembl 74_37 -1 known missense c.727 p.R243C 1.000 pfam_Inositol_monophosphatase pfam_Inositol_monophosphatase - no_errors IMPAD1 HGNC ENSG00000104331 103 0 0 132 18 12 NTMT1 0 genome.wustl.edu 37 9 132397491 132397491 + Missense_Mutation SNP C C G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 9 132397491 132397491 C G SNP NTMT1 ENST00000372480 human ensembl 74_37 +1 known missense c.420 p.H140Q 1.000 pfam_DUF858_MeTrfase_lik,pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_O_MeTrfase_2,pirsf_DUF858_MeTrfase_lik pfam_DUF858_MeTrfase_lik,pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_O_MeTrfase_2,pirsf_DUF858_MeTrfase_lik - no_errors NTMT1 HGNC ENSG00000148335 83 0 0 75 7 8.53659 ARHGEF39 0 genome.wustl.edu 37 9 35662219 35662219 + Missense_Mutation SNP C C G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 9 35662219 35662219 C G SNP ARHGEF39 ENST00000378387 human ensembl 74_37 -1 known missense c.949 p.E317Q 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF39 HGNC ENSG00000137135 115 0 0 48 48 50 KIAA2026 0 genome.wustl.edu 37 9 5968974 5968974 + Silent SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 9 5968974 5968974 G A SNP KIAA2026 ENST00000399933 human ensembl 74_37 -1 novel silent c.1257 p.H419 0.991 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 24 0 0 18 6 25 PTPRD 0 genome.wustl.edu 37 9 8317903 8317903 + Missense_Mutation SNP G G C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 9 8317903 8317903 G C SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.5710 p.L1904V 1.000 smart_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 183 0 0 183 25 12.0192 SHC3 0 genome.wustl.edu 37 9 91686168 91686168 + Splice_Site SNP C C A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 9 91686168 91686168 C A SNP SHC3 ENST00000375835 human ensembl 74_37 -1 known splice_site c.730-1 e5-1 1.000 - - - no_errors SHC3 HGNC ENSG00000148082 57 0 0 63 7 10 FRMD7 0 genome.wustl.edu 37 X 131212239 131212239 + Silent SNP A A C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 X 131212239 131212239 A C SNP FRMD7 ENST00000298542 human ensembl 74_37 -1 known silent c.1806 p.P602 1.000 NULL pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,pfscan_FERM_domain - no_errors FRMD7 HGNC ENSG00000165694 62 0 0 78 11 12.3596 USP26 0 genome.wustl.edu 37 X 132161820 132161820 + Silent SNP A A C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 X 132161820 132161820 A C SNP USP26 ENST00000370832 human ensembl 74_37 -1 known silent c.429 p.S143 0.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP26 HGNC ENSG00000134588 36 0 0 44 11 20 FLNA 0 genome.wustl.edu 37 X 153594681 153594681 + Missense_Mutation SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 X 153594681 153594681 G A SNP FLNA ENST00000369850 human ensembl 74_37 -1 known missense c.1223 p.T408M 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 51 0 0 46 4 8 USP51 0 genome.wustl.edu 37 X 55515195 55515195 + Missense_Mutation SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 X 55515195 55515195 G A SNP USP51 ENST00000500968 human ensembl 74_37 -1 known missense c.178 p.P60S 0.081 NULL pfam_Peptidase_C19/C67,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP51 HGNC ENSG00000247746 19 0 0 28 8 22.2222 POF1B 0 genome.wustl.edu 37 X 84586035 84586035 + Silent SNP T T G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 X 84586035 84586035 T G SNP POF1B ENST00000373145 human ensembl 74_37 -1 known silent c.774 p.G258 1.000 NULL NULL - no_errors POF1B HGNC ENSG00000124429 29 0 0 41 4 8.88889 KIAA1009 0 genome.wustl.edu 37 6 84862599 84862600 + Frame_Shift_Ins INS - - T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 6 84862599 84862600 - T INS KIAA1009 ENST00000403245 human ensembl 74_37 -1 known frame_shift_ins c.3294_3293 p.R1099fs 0.003:0.003 NULL NULL - no_errors KIAA1009 HGNC ENSG00000135315 104 0 0 76 11 12.6437 FGD1 0 genome.wustl.edu 37 X 54497148 54497148 + Frame_Shift_Del DEL G G - TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 X 54497148 54497148 G - DEL FGD1 ENST00000375135 human ensembl 74_37 -1 known frame_shift_del c.527 p.P176fs 0.039 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD1 HGNC ENSG00000102302 23 0 0 6 3 33.3333