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 RTCA 0 genome.wustl.edu 37 1 100731778 100731778 + RNA SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 100731778 100731778 C A SNP RTCA ENST00000498617 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RTCA HGNC ENSG00000137996 12 0 0 6 5 45.4545 KIF1B 0 genome.wustl.edu 37 1 10420986 10420986 + Splice_Site SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 10420986 10420986 G T SNP KIF1B ENST00000263934 human ensembl 74_37 +1 known splice_site c.3918-1 e36-1 1.000 - - - no_errors KIF1B HGNC ENSG00000054523 93 0 0 61 4 6.15385 DFFA 0 genome.wustl.edu 37 1 10521701 10521701 + Missense_Mutation SNP T T A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 10521701 10521701 T A SNP DFFA ENST00000377038 human ensembl 74_37 -1 known missense c.842 p.K281M 0.667 pirsf_DNA_fragmentation_factor_asu pfam_DNA_fragmentation_mid_dom,pfam_CIDE-N_dom,smart_CIDE-N_dom,pirsf_DNA_fragmentation_factor_asu,pfscan_CIDE-N_dom - no_errors DFFA HGNC ENSG00000160049 125 0 0 83 24 22.4299 CASZ1 0 genome.wustl.edu 37 1 10705023 10705023 + Silent SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 10705023 10705023 T C SNP CASZ1 ENST00000377022 human ensembl 74_37 -1 known silent c.3819 p.A1273 0.996 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 147 0 0 115 39 25.3247 VAV3 0 genome.wustl.edu 37 1 108115957 108115957 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 108115957 108115957 T C SNP VAV3 ENST00000370056 human ensembl 74_37 -1 known missense c.2540 p.E847G 1.000 smart_SH3_domain,pfscan_SH3_domain pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain,prints_SM22_calponin - no_errors VAV3 HGNC ENSG00000134215 35 0 0 32 13 28.8889 CELSR2 0 genome.wustl.edu 37 1 109812696 109812696 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 109812696 109812696 G A SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known missense c.7249 p.A2417T 0.529 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 146 0 0 117 33 22 CELSR2 0 genome.wustl.edu 37 1 109813580 109813580 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 109813580 109813580 C T SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known silent c.7515 p.Y2505 0.982 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 265 0 0 188 76 28.7879 GNAI3 0 genome.wustl.edu 37 1 110091425 110091425 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 110091425 110091425 A G SNP GNAI3 ENST00000369851 human ensembl 74_37 +1 known missense c.83 p.E28G 1.000 pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_Gprotein_alpha - no_errors GNAI3 HGNC ENSG00000065135 18 0 0 17 5 22.7273 PTPN22 0 genome.wustl.edu 37 1 114357544 114357544 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 114357544 114357544 G A SNP PTPN22 ENST00000359785 human ensembl 74_37 -1 known missense c.2407 p.P803S 0.133 pirsf_Non-rcpt_Tyr_Pase_8/22 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Non-rcpt_Tyr_Pase_8/22,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN22 HGNC ENSG00000134242 51 0 0 34 7 17.0732 CSDE1 0 genome.wustl.edu 37 1 115276643 115276643 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 115276643 115276643 G A SNP CSDE1 ENST00000369530 human ensembl 74_37 -1 known silent c.723 p.G241 0.997 pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot - no_errors CSDE1 HGNC ENSG00000009307 62 0 0 53 4 7.01754 SDF4 0 genome.wustl.edu 37 1 1154278 1154278 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 1154278 1154278 G A SNP SDF4 ENST00000360001 human ensembl 74_37 -1 known missense c.607 p.R203C 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors SDF4 HGNC ENSG00000078808 152 0 0 135 41 23.2955 TSPAN2 0 genome.wustl.edu 37 1 115604798 115604798 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 115604798 115604798 C T SNP TSPAN2 ENST00000369516 human ensembl 74_37 -1 known silent c.228 p.G76 0.450 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN2 HGNC ENSG00000134198 11 0 0 7 5 41.6667 PTCHD2 0 genome.wustl.edu 37 1 11561152 11561152 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 11561152 11561152 G T SNP PTCHD2 ENST00000294484 human ensembl 74_37 +1 known missense c.103 p.G35W 0.000 NULL pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 89 0 0 62 27 30.3371 PTCHD2 0 genome.wustl.edu 37 1 11561770 11561770 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 11561770 11561770 G A SNP PTCHD2 ENST00000294484 human ensembl 74_37 +1 known missense c.721 p.A241T 0.000 NULL pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 14 0 0 15 4 21.0526 B3GALT6 0 genome.wustl.edu 37 1 1168284 1168284 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 1168284 1168284 A G SNP B3GALT6 ENST00000379198 human ensembl 74_37 +1 known missense c.626 p.Y209C 1.000 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GALT6 HGNC ENSG00000176022 11 0 0 4 3 42.8571 FBXO6 0 genome.wustl.edu 37 1 11733437 11733437 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 11733437 11733437 A G SNP FBXO6 ENST00000376753 human ensembl 74_37 +1 known missense c.613 p.I205V 0.261 pfam_F-box-assoc_dom,superfamily_Galactose-bd-like,pfscan_F-box-assoc_dom pfam_F-box-assoc_dom,pfam_F-box_dom,superfamily_Galactose-bd-like,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom,pfscan_F-box-assoc_dom - no_errors FBXO6 HGNC ENSG00000116663 110 0 0 92 12 11.5385 ZNF697 0 genome.wustl.edu 37 1 120165750 120165750 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 120165750 120165750 C T SNP ZNF697 ENST00000421812 human ensembl 74_37 -1 known missense c.1216 p.E406K 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF697 HGNC ENSG00000143067 16 0 0 16 6 27.2727 ZNF697 0 genome.wustl.edu 37 1 120165980 120165980 + Missense_Mutation SNP C C G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 120165980 120165980 C G SNP ZNF697 ENST00000421812 human ensembl 74_37 -1 known missense c.986 p.S329T 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF697 HGNC ENSG00000143067 8 0 0 5 4 44.4444 PHGDH 0 genome.wustl.edu 37 1 120279828 120279828 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 120279828 120279828 G A SNP PHGDH ENST00000369409 human ensembl 74_37 +1 known missense c.884 p.C295Y 1.000 pfam_D-isomer_2_OHA_DH_cat_dom,tigrfam_D-3-Phosphoglycerate_DH pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,tigrfam_D-3-Phosphoglycerate_DH - no_errors PHGDH HGNC ENSG00000092621 51 0 0 32 14 30.4348 VPS13D 0 genome.wustl.edu 37 1 12337865 12337865 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 12337865 12337865 T C SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known missense c.4220 p.I1407T 1.000 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 116 0 0 89 27 23.2759 DHRS3 0 genome.wustl.edu 37 1 12628448 12628448 + Missense_Mutation SNP A A T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 12628448 12628448 A T SNP DHRS3 ENST00000376223 human ensembl 74_37 -1 known missense c.830 p.L277H 1.000 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Polysac_CapD-like,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS3 HGNC ENSG00000162496 149 0 0 117 47 28.6585 DVL1 0 genome.wustl.edu 37 1 1277817 1277817 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 1277817 1277817 C T SNP DVL1 ENST00000378888 human ensembl 74_37 -1 known silent c.288 p.T96 0.197 NULL pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam - no_errors DVL1 HGNC ENSG00000107404 19 0 0 12 5 29.4118 PRAMEF1 0 genome.wustl.edu 37 1 12853640 12853640 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 12853640 12853640 G A SNP PRAMEF1 ENST00000332296 human ensembl 74_37 +1 known silent c.264 p.L88 0.009 NULL NULL - no_errors PRAMEF1 HGNC ENSG00000116721 187 0 0 142 35 19.774 PRDM2 0 genome.wustl.edu 37 1 14105136 14105136 + Missense_Mutation SNP A A T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 14105136 14105136 A T SNP PRDM2 ENST00000235372 human ensembl 74_37 +1 known missense c.846 p.E282D 0.965 pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 61 0 0 64 5 7.24638 ENSG00000203849 0 genome.wustl.edu 37 1 142713751 142713751 + RNA SNP A A C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 142713751 142713751 A C SNP ENSG00000203849 ENST00000369381 human ensembl 74_37 -1 known rna NULL NULL 0.105 - - - no_errors RP11-417J8.6 Clone_based_vega_gene ENSG00000203849 33 0 0 24 10 29.4118 PDE4DIP 0 genome.wustl.edu 37 1 144873923 144873923 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 144873923 144873923 C A SNP PDE4DIP ENST00000369356 human ensembl 74_37 -1 known missense c.5034 p.L1678F 0.991 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 539 0 0 411 63 13.2911 BCL9 0 genome.wustl.edu 37 1 147090821 147090821 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 147090821 147090821 C A SNP BCL9 ENST00000234739 human ensembl 74_37 +1 known missense c.860 p.P287H 0.755 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 95 0 0 96 26 21.3115 BCL9 0 genome.wustl.edu 37 1 147096167 147096167 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 147096167 147096167 G A SNP BCL9 ENST00000234739 human ensembl 74_37 +1 known missense c.3688 p.G1230R 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 135 0 0 97 24 19.8347 TARS2 0 genome.wustl.edu 37 1 150463946 150463946 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 150463946 150463946 A G SNP TARS2 ENST00000369064 human ensembl 74_37 +1 known missense c.589 p.R197G 0.990 superfamily_Thr/Ala-tRNA-synth_IIc_edit,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARS2 HGNC ENSG00000143374 132 0 0 108 33 23.4043 SEMA6C 0 genome.wustl.edu 37 1 151112138 151112138 + Silent SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 151112138 151112138 T C SNP SEMA6C ENST00000368913 human ensembl 74_37 -1 known silent c.273 p.E91 0.999 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,pfscan_Semap_dom - no_errors SEMA6C HGNC ENSG00000143434 66 0 0 41 16 28.0702 ZNF687 0 genome.wustl.edu 37 1 151261038 151261038 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 151261038 151261038 G A SNP ZNF687 ENST00000324048 human ensembl 74_37 +1 known missense c.2150 p.R717H 0.998 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF687 HGNC ENSG00000143373 112 0 0 77 37 32.4561 PSMB4 0 genome.wustl.edu 37 1 151373007 151373007 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 151373007 151373007 C T SNP PSMB4 ENST00000290541 human ensembl 74_37 +1 known missense c.437 p.S146L 1.000 pfam_Proteasome_sua/b,pirsf_Proteasome_endopept_cplx_B pfam_Proteasome_sua/b,pirsf_Proteasome_endopept_cplx_B - no_errors PSMB4 HGNC ENSG00000159377 327 1 0.304878 169 66 28.0851 SNX27 0 genome.wustl.edu 37 1 151611552 151611552 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 151611552 151611552 T C SNP SNX27 ENST00000368843 human ensembl 74_37 +1 known missense c.500 p.V167A 1.000 superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,pfam_PDZ,pfam_Ras-assoc,superfamily_Phox,superfamily_PDZ,smart_PDZ,smart_Phox,pfscan_PDZ,pfscan_Phox,pfscan_Ras-assoc - no_errors SNX27 HGNC ENSG00000143376 78 0 0 46 22 32.3529 NBPF18P 0 genome.wustl.edu 37 1 151993647 151993647 + RNA SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 151993647 151993647 C T SNP NBPF18P ENST00000432386 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors NBPF18P HGNC ENSG00000229021 103 0 0 54 17 23.9437 FLG2 0 genome.wustl.edu 37 1 152326237 152326237 + Missense_Mutation SNP C C G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 152326237 152326237 C G SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known missense c.4025 p.R1342T 0.010 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 260 0 0 167 64 27.7056 SPRR1A 0 genome.wustl.edu 37 1 152957933 152957933 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 152957933 152957933 C T SNP SPRR1A ENST00000307122 human ensembl 74_37 +1 known missense c.227 p.T76M 0.000 pfam_Cornifin pfam_Cornifin - no_errors SPRR1A HGNC ENSG00000169474 165 0 0 138 38 21.5909 PGLYRP4 0 genome.wustl.edu 37 1 153317826 153317826 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 153317826 153317826 G A SNP PGLYRP4 ENST00000359650 human ensembl 74_37 -1 known missense c.172 p.R58C 0.273 superfamily_Amidase_domain,smart_PGRP_domain_met/bac pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain - no_errors PGLYRP4 HGNC ENSG00000163218 168 0 0 139 33 19.186 INTS3 0 genome.wustl.edu 37 1 153735839 153735839 + Splice_Site SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 153735839 153735839 G A SNP INTS3 ENST00000318967 human ensembl 74_37 +1 known splice_site c.1766+1 e16+1 1.000 - - - no_errors INTS3 HGNC ENSG00000143624 137 0 0 97 16 14.1593 DENND4B 0 genome.wustl.edu 37 1 153902880 153902880 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 153902880 153902880 G T SNP DENND4B ENST00000361217 human ensembl 74_37 -1 known missense c.4384 p.L1462M 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4B HGNC ENSG00000198837 127 0 0 102 7 6.42202 NUP210L 0 genome.wustl.edu 37 1 154026855 154026855 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 154026855 154026855 T C SNP NUP210L ENST00000368559 human ensembl 74_37 -1 known missense c.3332 p.Q1111R 1.000 pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 102 0 0 65 17 20.7317 MSTO1 0 genome.wustl.edu 37 1 155583916 155583916 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 155583916 155583916 C T SNP MSTO1 ENST00000245564 human ensembl 74_37 +1 known missense c.1565 p.A522V 0.000 NULL pfam_Misato_II_tubulin-like,pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase - no_errors MSTO1 HGNC ENSG00000125459 39 0 0 17 3 15 CD1C 0 genome.wustl.edu 37 1 158263068 158263068 + Missense_Mutation SNP T T A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 158263068 158263068 T A SNP CD1C ENST00000368170 human ensembl 74_37 +1 known missense c.956 p.L319H 0.055 NULL pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1C HGNC ENSG00000158481 182 0 0 168 19 10.1604 OR6K6 0 genome.wustl.edu 37 1 158725149 158725149 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 158725149 158725149 C A SNP OR6K6 ENST00000368144 human ensembl 74_37 +1 known missense c.544 p.L182I 0.133 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K6 HGNC ENSG00000180433 116 0 0 77 22 22.2222 PEA15 0 genome.wustl.edu 37 1 160183419 160183419 + RNA SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 160183419 160183419 C T SNP PEA15 ENST00000488858 human ensembl 74_37 +1 known rna NULL NULL 0.985 - - - no_errors PEA15 HGNC ENSG00000162734 12 0 0 5 2 28.5714 COPA 0 genome.wustl.edu 37 1 160293315 160293315 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 160293315 160293315 G A SNP COPA ENST00000368069 human ensembl 74_37 -1 known silent c.612 p.H204 0.991 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors COPA HGNC ENSG00000122218 40 0 0 28 10 26.3158 OLFML2B 0 genome.wustl.edu 37 1 161953870 161953870 + Silent SNP G G C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 161953870 161953870 G C SNP OLFML2B ENST00000294794 human ensembl 74_37 -1 known silent c.1848 p.G616 0.994 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,superfamily_NA-bd_OB-fold,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2B HGNC ENSG00000162745 82 0 0 74 32 30.1887 C1orf226 0 genome.wustl.edu 37 1 162351994 162351994 + Nonsense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 162351994 162351994 G A SNP C1orf226 ENST00000426197 human ensembl 74_37 +1 known nonsense c.432 p.W144* 0.115 NULL NULL - no_errors C1orf226 HGNC ENSG00000239887 9 0 0 5 5 50 SPEN 0 genome.wustl.edu 37 1 16255775 16255775 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 16255775 16255775 G A SNP SPEN ENST00000375759 human ensembl 74_37 +1 known missense c.3040 p.V1014M 0.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 84 0 0 62 8 11.4286 DDR2 0 genome.wustl.edu 37 1 162722911 162722911 + Missense_Mutation SNP T T G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 162722911 162722911 T G SNP DDR2 ENST00000367921 human ensembl 74_37 +1 known missense c.109 p.S37A 1.000 superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR2 HGNC ENSG00000162733 98 0 0 90 13 12.6214 EPHA2 0 genome.wustl.edu 37 1 16460035 16460035 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 16460035 16460035 A G SNP EPHA2 ENST00000358432 human ensembl 74_37 -1 known missense c.1805 p.L602S 1.000 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Kinase-like_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA2 HGNC ENSG00000142627 89 0 0 65 6 8.4507 LRRC52 0 genome.wustl.edu 37 1 165514113 165514113 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 165514113 165514113 G A SNP LRRC52 ENST00000294818 human ensembl 74_37 +1 known missense c.580 p.D194N 1.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC52 HGNC ENSG00000162763 186 0 0 139 38 21.4689 NADK 0 genome.wustl.edu 37 1 1685059 1685059 + Silent SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 1685059 1685059 T C SNP NADK ENST00000344463 human ensembl 74_37 -1 known silent c.1566 p.T522 0.106 pfam_PolyP/ATP_NADK_prd,superfamily_ATP-NAD_kinase_PpnK-typ pfam_PolyP/ATP_NADK_prd,superfamily_ATP-NAD_kinase_PpnK-typ - no_errors NADK HGNC ENSG00000008130 29 0 0 24 7 22.5806 MST1L 0 genome.wustl.edu 37 1 17084144 17084144 + RNA SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 17084144 17084144 T C SNP MST1L ENST00000455405 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors MST1L HGNC ENSG00000186715 390 0 0 360 21 5.51181 SUCO 0 genome.wustl.edu 37 1 172579025 172579025 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 172579025 172579025 G A SNP SUCO ENST00000608151 human ensembl 74_37 +1 known missense c.3847 p.A1283T 0.961 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUCO HGNC ENSG00000094975 85 0 0 78 24 23.5294 GAS5 0 genome.wustl.edu 37 1 173833967 173833967 + RNA SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 173833967 173833967 G A SNP GAS5 ENST00000364822 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors GAS5 HGNC ENSG00000234741 75 0 0 50 18 26.4706 SERPINC1 0 genome.wustl.edu 37 1 173886373 173886373 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 173886373 173886373 C A SNP SERPINC1 ENST00000367698 human ensembl 74_37 -1 known missense c.25 p.V9L 0.000 NULL pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINC1 HGNC ENSG00000117601 48 0 0 30 14 31.8182 TNN 0 genome.wustl.edu 37 1 175097225 175097225 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 175097225 175097225 G A SNP TNN ENST00000239462 human ensembl 74_37 +1 known missense c.3103 p.A1035T 0.000 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 103 0 0 70 22 23.913 TNR 0 genome.wustl.edu 37 1 175372558 175372558 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 175372558 175372558 C T SNP TNR ENST00000263525 human ensembl 74_37 -1 known missense c.694 p.E232K 1.000 NULL 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 TNR HGNC ENSG00000116147 152 0 0 150 53 26.1084 PAPPA2 0 genome.wustl.edu 37 1 176564578 176564578 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 176564578 176564578 G A SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known missense c.1838 p.R613H 1.000 pfam_Notch_dom,superfamily_Notch_dom,smart_Notch_dom pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 104 0 0 80 21 20.7921 BRINP2 0 genome.wustl.edu 37 1 177250123 177250123 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 177250123 177250123 C A SNP BRINP2 ENST00000361539 human ensembl 74_37 +1 known missense c.1811 p.P604H 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP2 HGNC ENSG00000198797 62 0 0 36 12 25 ARHGEF10L 0 genome.wustl.edu 37 1 17945850 17945850 + Missense_Mutation SNP G G C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 17945850 17945850 G C SNP ARHGEF10L ENST00000361221 human ensembl 74_37 +1 known missense c.852 p.E284D 0.995 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10L HGNC ENSG00000074964 30 0 0 28 10 26.3158 TDRD5 0 genome.wustl.edu 37 1 179632554 179632554 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 179632554 179632554 G A SNP TDRD5 ENST00000444136 human ensembl 74_37 +1 known silent c.2577 p.T859 0.001 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD5 HGNC ENSG00000162782 69 0 0 36 16 30.7692 QSOX1 0 genome.wustl.edu 37 1 180166065 180166065 + Missense_Mutation SNP T T G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 180166065 180166065 T G SNP QSOX1 ENST00000367602 human ensembl 74_37 +1 known missense c.2137 p.C713G 1.000 NULL pfam_ERV/ALR_sulphydryl_oxidase,pfam_Thioredoxin_domain,superfamily_ERV/ALR_sulphydryl_oxidase,superfamily_Thioredoxin-like_fold - no_errors QSOX1 HGNC ENSG00000116260 80 0 0 58 21 26.5823 KIAA1614 0 genome.wustl.edu 37 1 180905132 180905132 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 180905132 180905132 C T SNP KIAA1614 ENST00000367588 human ensembl 74_37 +1 known missense c.2087 p.T696M 0.000 NULL NULL - no_errors KIAA1614 HGNC ENSG00000135835 194 0 0 146 39 21.0811 CACNA1E 0 genome.wustl.edu 37 1 181741239 181741239 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 181741239 181741239 T C SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.5011 p.S1671P 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 114 0 0 94 26 21.6667 RGL1 0 genome.wustl.edu 37 1 183881389 183881389 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 183881389 183881389 A G SNP RGL1 ENST00000304685 human ensembl 74_37 +1 known missense c.1841 p.E614G 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL1 HGNC ENSG00000143344 55 0 0 41 18 30.5085 TRMT1L 0 genome.wustl.edu 37 1 185108537 185108537 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 185108537 185108537 C A SNP TRMT1L ENST00000367506 human ensembl 74_37 -1 known missense c.1284 p.K428N 1.000 pfam_TRM1 pfam_TRM1,pfam_tRNA_Trfase_Trm5/Tyw2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors TRMT1L HGNC ENSG00000121486 27 0 0 20 6 23.0769 UBR4 0 genome.wustl.edu 37 1 19404515 19404515 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 19404515 19404515 G A SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known silent c.15279 p.S5093 0.994 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 67 0 0 45 9 16.6667 UBR4 0 genome.wustl.edu 37 1 19433462 19433462 + Splice_Site SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 19433462 19433462 T C SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known splice_site c.12106-2 e82-2 1.000 - - - no_errors UBR4 HGNC ENSG00000127481 42 0 0 25 13 34.2105 ZBTB41 0 genome.wustl.edu 37 1 197169466 197169466 + Missense_Mutation SNP T T G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 197169466 197169466 T G SNP ZBTB41 ENST00000367405 human ensembl 74_37 -1 known missense c.138 p.E46D 0.874 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB41 HGNC ENSG00000177888 124 0 0 70 27 27.8351 HTR6 0 genome.wustl.edu 37 1 19992556 19992556 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 19992556 19992556 G A SNP HTR6 ENST00000289753 human ensembl 74_37 +1 known missense c.310 p.A104T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT6_rcpt,prints_GPCR_Rhodpsn - no_errors HTR6 HGNC ENSG00000158748 125 0 0 103 35 25.3623 KIF14 0 genome.wustl.edu 37 1 200522536 200522536 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 200522536 200522536 T C SNP KIF14 ENST00000367350 human ensembl 74_37 -1 known missense c.4927 p.S1643G 0.000 NULL 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 164 0 0 108 37 25.5172 KIF14 0 genome.wustl.edu 37 1 200574463 200574463 + Missense_Mutation SNP T T A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 200574463 200574463 T A SNP KIF14 ENST00000367350 human ensembl 74_37 -1 known missense c.1694 p.D565V 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_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 70 0 0 54 15 21.7391 C1orf106 0 genome.wustl.edu 37 1 200880605 200880605 + Silent SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 200880605 200880605 T C SNP C1orf106 ENST00000367342 human ensembl 74_37 +1 known silent c.1239 p.P413 0.000 NULL pfam_DUF3338 - no_errors C1orf106 HGNC ENSG00000163362 335 0 0 233 83 26.2658 TNNI1 0 genome.wustl.edu 37 1 201380608 201380608 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 201380608 201380608 C T SNP TNNI1 ENST00000336092 human ensembl 74_37 -1 known silent c.333 p.P111 0.001 pfam_Troponin pfam_Troponin - no_errors TNNI1 HGNC ENSG00000159173 42 0 0 41 16 28.0702 LGR6 0 genome.wustl.edu 37 1 202249955 202249955 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 202249955 202249955 G A SNP LGR6 ENST00000367278 human ensembl 74_37 +1 known missense c.691 p.E231K 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn - no_errors LGR6 HGNC ENSG00000133067 112 0 0 71 28 28.2828 OTUD3 0 genome.wustl.edu 37 1 20234193 20234193 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 20234193 20234193 A G SNP OTUD3 ENST00000375120 human ensembl 74_37 +1 known missense c.1151 p.N384S 0.000 NULL pfam_OTU,pfscan_OTU - no_errors OTUD3 HGNC ENSG00000169914 63 0 0 49 15 23.4375 LRRN2 0 genome.wustl.edu 37 1 204588977 204588977 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 204588977 204588977 G A SNP LRRN2 ENST00000367175 human ensembl 74_37 -1 known silent c.144 p.R48 0.001 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRN2 HGNC ENSG00000170382 59 0 0 38 27 41.5385 RASSF5 0 genome.wustl.edu 37 1 206758730 206758730 + RNA SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 206758730 206758730 C T SNP RASSF5 ENST00000491368 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors RASSF5 HGNC ENSG00000136653 30 0 0 27 8 22.8571 PFKFB2 0 genome.wustl.edu 37 1 207252489 207252489 + RNA SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 207252489 207252489 C T SNP PFKFB2 ENST00000473310 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors PFKFB2 HGNC ENSG00000123836 34 0 0 23 10 30.303 CR2 0 genome.wustl.edu 37 1 207649616 207649616 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 207649616 207649616 C T SNP CR2 ENST00000367057 human ensembl 74_37 +1 known silent c.2754 p.N918 0.165 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR2 HGNC ENSG00000117322 100 0 0 57 32 35.9551 PLXNA2 0 genome.wustl.edu 37 1 208390884 208390884 + Silent SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 208390884 208390884 G T SNP PLXNA2 ENST00000367033 human ensembl 74_37 -1 known silent c.384 p.A128 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA2 HGNC ENSG00000076356 180 0 0 141 36 20.339 KCNH1 0 genome.wustl.edu 37 1 211256135 211256135 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 211256135 211256135 G T SNP KCNH1 ENST00000271751 human ensembl 74_37 -1 known missense c.545 p.S182Y 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH1 HGNC ENSG00000143473 156 1 0.636943 97 34 25.9542 PPP2R5A 0 genome.wustl.edu 37 1 212506874 212506874 + Silent SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 212506874 212506874 T C SNP PPP2R5A ENST00000261461 human ensembl 74_37 +1 known silent c.414 p.S138 1.000 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5A HGNC ENSG00000066027 76 0 0 36 17 32.0755 PROX1 0 genome.wustl.edu 37 1 214170404 214170404 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 214170404 214170404 A G SNP PROX1 ENST00000261454 human ensembl 74_37 +1 known missense c.526 p.M176V 1.000 pfam_Homeo_prospero_dom pfam_Homeo_prospero_dom,superfamily_Homeodomain-like - no_errors PROX1 HGNC ENSG00000117707 94 0 0 88 22 20 PROX1 0 genome.wustl.edu 37 1 214170994 214170994 + Silent SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 214170994 214170994 G T SNP PROX1 ENST00000261454 human ensembl 74_37 +1 known silent c.1116 p.S372 0.819 pfam_Homeo_prospero_dom pfam_Homeo_prospero_dom,superfamily_Homeodomain-like - no_errors PROX1 HGNC ENSG00000117707 125 0 0 108 47 30.3226 PTPN14 0 genome.wustl.edu 37 1 214638166 214638166 + RNA SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 214638166 214638166 G A SNP PTPN14 ENST00000486173 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors PTPN14 HGNC ENSG00000152104 72 0 0 63 26 29.2135 ECE1 0 genome.wustl.edu 37 1 21599373 21599373 + Silent SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 21599373 21599373 A G SNP ECE1 ENST00000374893 human ensembl 74_37 -1 known silent c.312 p.C104 0.377 NULL pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECE1 HGNC ENSG00000117298 112 0 0 86 22 20.3704 USH2A 0 genome.wustl.edu 37 1 216062234 216062234 + Missense_Mutation SNP G G C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 216062234 216062234 G C SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.7757 p.T2586R 0.790 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 155 0 0 85 22 20.5607 GPATCH2 0 genome.wustl.edu 37 1 217793649 217793649 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 217793649 217793649 C T SNP GPATCH2 ENST00000366935 human ensembl 74_37 -1 known silent c.249 p.E83 1.000 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH2 HGNC ENSG00000092978 93 0 0 66 28 29.7872 LYPLAL1 0 genome.wustl.edu 37 1 219352518 219352518 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 219352518 219352518 A G SNP LYPLAL1 ENST00000366928 human ensembl 74_37 +1 known missense c.121 p.I41V 1.000 pfam_PLipase/COase/thioEstase pfam_PLipase/COase/thioEstase,pfam_Dienelactn_hydro,pfam_Esterase_put - no_errors LYPLAL1 HGNC ENSG00000143353 35 0 0 35 9 20.4545 SLC30A10 0 genome.wustl.edu 37 1 220101753 220101753 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 220101753 220101753 C T SNP SLC30A10 ENST00000366926 human ensembl 74_37 -1 known silent c.30 p.R10 0.997 tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A10 HGNC ENSG00000196660 35 0 0 23 8 25.8065 MARC1 0 genome.wustl.edu 37 1 220971113 220971113 + RNA SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 220971113 220971113 T C SNP MARC1 ENST00000472269 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors MARC1 HGNC ENSG00000186205 25 0 0 13 4 23.5294 BROX 0 genome.wustl.edu 37 1 222889064 222889064 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 222889064 222889064 A G SNP BROX ENST00000539697 human ensembl 74_37 +1 known missense c.23 p.N8S 1.000 NULL pfam_BRO1_dom,pfscan_BRO1_dom - no_errors BROX HGNC ENSG00000162819 77 0 0 52 18 25.7143 DISP1 0 genome.wustl.edu 37 1 223177683 223177683 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 223177683 223177683 G A SNP DISP1 ENST00000284476 human ensembl 74_37 +1 novel missense c.2944 p.D982N 0.999 pfam_Patched,pfam_MMPL_dom pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 83 0 0 57 4 6.55738 TLR5 0 genome.wustl.edu 37 1 223284384 223284384 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 223284384 223284384 G A SNP TLR5 ENST00000342210 human ensembl 74_37 -1 known missense c.1990 p.R664W 1.000 NULL pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR5 HGNC ENSG00000187554 89 0 0 60 31 34.0659 TLR5 0 genome.wustl.edu 37 1 223286173 223286173 + Silent SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 223286173 223286173 G T SNP TLR5 ENST00000342210 human ensembl 74_37 -1 known silent c.201 p.P67 0.024 NULL pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR5 HGNC ENSG00000187554 108 0 0 68 15 18.0723 NVL 0 genome.wustl.edu 37 1 224491429 224491429 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 224491429 224491429 G A SNP NVL ENST00000281701 human ensembl 74_37 -1 known missense c.956 p.A319V 1.000 pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA-2,pfam_ATPase_dyneun-rel_AAA,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NVL HGNC ENSG00000143748 72 0 0 51 5 8.92857 TMEM63A 0 genome.wustl.edu 37 1 226036699 226036699 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 226036699 226036699 C T SNP TMEM63A ENST00000366835 human ensembl 74_37 -1 known missense c.2086 p.A696T 0.062 NULL pfam_DUF221 - no_errors TMEM63A HGNC ENSG00000196187 12 0 0 7 2 22.2222 TMEM63A 0 genome.wustl.edu 37 1 226041489 226041489 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 226041489 226041489 G A SNP TMEM63A ENST00000366835 human ensembl 74_37 -1 known silent c.1638 p.C546 0.782 pfam_DUF221 pfam_DUF221 - no_errors TMEM63A HGNC ENSG00000196187 23 0 0 15 3 16.6667 TMEM63A 0 genome.wustl.edu 37 1 226044664 226044664 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 226044664 226044664 G A SNP TMEM63A ENST00000366835 human ensembl 74_37 -1 known silent c.1431 p.A477 0.953 pfam_DUF221 pfam_DUF221 - no_errors TMEM63A HGNC ENSG00000196187 45 0 0 26 9 25.7143 PYCR2 0 genome.wustl.edu 37 1 226109261 226109261 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 226109261 226109261 C A SNP PYCR2 ENST00000343818 human ensembl 74_37 -1 known missense c.624 p.Q208H 1.000 superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase - no_errors PYCR2 HGNC ENSG00000143811 102 0 0 73 28 27.7228 ITPKB 0 genome.wustl.edu 37 1 226923840 226923840 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 226923840 226923840 G A SNP ITPKB ENST00000272117 human ensembl 74_37 -1 known silent c.1320 p.S440 0.000 NULL pfam_IPK - no_errors ITPKB HGNC ENSG00000143772 65 0 0 58 16 21.6216 ADCK3 0 genome.wustl.edu 37 1 227153002 227153002 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 227153002 227153002 G A SNP ADCK3 ENST00000366777 human ensembl 74_37 +1 known missense c.479 p.R160Q 0.134 NULL pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK3 HGNC ENSG00000163050 38 0 0 36 8 18.1818 ZNF678 0 genome.wustl.edu 37 1 227842415 227842415 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 227842415 227842415 G A SNP ZNF678 ENST00000397097 human ensembl 74_37 +1 known missense c.629 p.C210Y 0.142 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 ZNF678 HGNC ENSG00000181450 91 0 0 89 5 5.31915 SNAP47 0 genome.wustl.edu 37 1 227920569 227920569 + RNA SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 227920569 227920569 G A SNP SNAP47 ENST00000480265 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNAP47 HGNC ENSG00000143740 129 1 0.769231 89 27 23.2759 PGBD5 0 genome.wustl.edu 37 1 230492738 230492738 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 230492738 230492738 G A SNP PGBD5 ENST00000321327 human ensembl 74_37 -1 known missense c.751 p.R251C 1.000 NULL NULL - no_errors PGBD5 HGNC ENSG00000177614 80 0 0 69 25 26.5957 EPHB2 0 genome.wustl.edu 37 1 23191443 23191443 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 23191443 23191443 C T SNP EPHB2 ENST00000400191 human ensembl 74_37 +1 known silent c.1041 p.P347 0.316 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB2 HGNC ENSG00000133216 169 0 0 168 29 14.7208 EPHB2 0 genome.wustl.edu 37 1 23235636 23235636 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 23235636 23235636 G A SNP EPHB2 ENST00000400191 human ensembl 74_37 +1 known missense c.2474 p.R825Q 1.000 pirsf_Tyr_kinase_ephrin_rcpt,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 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB2 HGNC ENSG00000133216 115 0 0 68 25 26.8817 SIPA1L2 0 genome.wustl.edu 37 1 232581284 232581284 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 232581284 232581284 T C SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known missense c.3344 p.D1115G 1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 84 0 0 62 29 31.8681 MAP10 0 genome.wustl.edu 37 1 232941435 232941435 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 232941435 232941435 C T SNP MAP10 ENST00000418460 human ensembl 74_37 +1 known silent c.666 p.A222 0.000 NULL NULL - no_errors MAP10 HGNC ENSG00000212916 27 0 0 21 6 22.2222 KDM1A 0 genome.wustl.edu 37 1 23398631 23398631 + Silent SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 23398631 23398631 A G SNP KDM1A ENST00000542151 human ensembl 74_37 +1 known silent c.1563 p.L521 1.000 pfam_Amino_oxidase,pirsf_Hist_Lys-spec_deMease pfam_Amino_oxidase,pfam_SWIRM,pfam_FAD-dep_OxRdtase,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pirsf_Hist_Lys-spec_deMease,pfscan_SWIRM - no_errors KDM1A HGNC ENSG00000004487 14 0 0 17 7 29.1667 LYST 0 genome.wustl.edu 37 1 235929422 235929422 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 235929422 235929422 G A SNP LYST ENST00000389793 human ensembl 74_37 -1 known silent c.6078 p.Y2026 0.997 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 170 0 0 122 30 19.7368 HEATR1 0 genome.wustl.edu 37 1 236759102 236759102 + RNA SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 236759102 236759102 T C SNP HEATR1 ENST00000483073 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors HEATR1 HGNC ENSG00000119285 71 0 0 33 10 23.2558 MT1HL1 0 genome.wustl.edu 37 1 237167652 237167652 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 237167652 237167652 G A SNP MT1HL1 ENST00000464121 human ensembl 74_37 -1 known silent c.21 p.C7 0.687 pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert - no_errors MT1HL1 HGNC ENSG00000244020 80 0 0 64 28 30.4348 ASAP3 0 genome.wustl.edu 37 1 23762466 23762466 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 23762466 23762466 G A SNP ASAP3 ENST00000336689 human ensembl 74_37 -1 known missense c.1627 p.R543W 0.008 superfamily_Ankyrin_rpt-contain_dom,smart_ArfGAP,pfscan_ArfGAP pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ASAP3 HGNC ENSG00000088280 208 0 0 162 55 25.3456 PLCH2 0 genome.wustl.edu 37 1 2415891 2415891 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 2415891 2415891 C T SNP PLCH2 ENST00000378486 human ensembl 74_37 +1 known missense c.650 p.A217V 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom 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_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH2 HGNC ENSG00000149527 50 0 0 38 9 19.1489 PLCH2 0 genome.wustl.edu 37 1 2426323 2426323 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 2426323 2426323 G T SNP PLCH2 ENST00000378486 human ensembl 74_37 +1 known missense c.1688 p.G563V 1.000 superfamily_PLC-like_Pdiesterase_TIM-brl 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_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH2 HGNC ENSG00000149527 20 0 0 14 5 26.3158 SDCCAG8 0 genome.wustl.edu 37 1 243437869 243437869 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 243437869 243437869 A G SNP SDCCAG8 ENST00000366541 human ensembl 74_37 +1 known missense c.331 p.N111D 0.000 NULL NULL - no_errors SDCCAG8 HGNC ENSG00000054282 70 0 0 34 19 35.8491 C1orf100 0 genome.wustl.edu 37 1 244538703 244538703 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 244538703 244538703 T C SNP C1orf100 ENST00000308105 human ensembl 74_37 +1 known missense c.86 p.V29A 0.006 NULL NULL - no_errors C1orf100 HGNC ENSG00000173728 82 0 0 50 14 21.875 TFB2M 0 genome.wustl.edu 37 1 246729200 246729200 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 246729200 246729200 C T SNP TFB2M ENST00000366514 human ensembl 74_37 -1 known missense c.241 p.A81T 0.062 smart_rRNA_Ade_methylase_Trfase_N,pirsf_Mt_di-Me-Ado_Trfase_2_prcur pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,pirsf_Mt_di-Me-Ado_Trfase_2_prcur - no_errors TFB2M HGNC ENSG00000162851 150 0 0 97 36 27.0677 AHCTF1 0 genome.wustl.edu 37 1 247014591 247014591 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 247014591 247014591 T C SNP AHCTF1 ENST00000326225 human ensembl 74_37 -1 known missense c.4744 p.T1582A 0.999 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors AHCTF1 HGNC ENSG00000153207 106 0 0 74 29 28.1553 ZNF124 0 genome.wustl.edu 37 1 247320277 247320277 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 247320277 247320277 C T SNP ZNF124 ENST00000543802 human ensembl 74_37 -1 known missense c.647 p.R216H 0.019 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 ZNF124 HGNC ENSG00000196418 138 0 0 77 26 25.2427 WDTC1 0 genome.wustl.edu 37 1 27624461 27624461 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 27624461 27624461 G A SNP WDTC1 ENST00000319394 human ensembl 74_37 +1 known missense c.1091 p.R364H 1.000 superfamily_WD40_repeat_dom,smart_TPR_repeat,pfscan_TPR-contain_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDTC1 HGNC ENSG00000142784 101 0 0 89 24 21.2389 PTAFR 0 genome.wustl.edu 37 1 28476598 28476598 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 28476598 28476598 C T SNP PTAFR ENST00000305392 human ensembl 74_37 -1 known missense c.935 p.R312H 0.540 prints_PAF_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_PAF_rcpt,prints_GPCR_Rhodpsn - no_errors PTAFR HGNC ENSG00000169403 158 0 0 97 30 23.622 DNAJC8 0 genome.wustl.edu 37 1 28541456 28541456 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 28541456 28541456 G A SNP DNAJC8 ENST00000263697 human ensembl 74_37 -1 known missense c.232 p.R78W 1.000 pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC8 HGNC ENSG00000126698 16 0 0 13 3 18.75 BAI2 0 genome.wustl.edu 37 1 32207532 32207532 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 32207532 32207532 C T SNP BAI2 ENST00000373658 human ensembl 74_37 -1 known missense c.1454 p.S485N 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI2 HGNC ENSG00000121753 112 0 0 106 31 22.6277 RNF19B 0 genome.wustl.edu 37 1 33413904 33413904 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 33413904 33413904 C T SNP RNF19B ENST00000373456 human ensembl 74_37 -1 known missense c.905 p.C302Y 1.000 pfam_Znf_C6HC,smart_Znf_C6HC pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF19B HGNC ENSG00000116514 117 0 0 58 23 28.3951 GJB4 0 genome.wustl.edu 37 1 35227066 35227066 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 35227066 35227066 G A SNP GJB4 ENST00000339480 human ensembl 74_37 +1 known missense c.211 p.V71M 1.000 pfam_Connexin_N,smart_Connexin_N,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin303 - no_errors GJB4 HGNC ENSG00000189433 42 0 0 31 9 22.5 GJB4 0 genome.wustl.edu 37 1 35227334 35227334 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 35227334 35227334 G T SNP GJB4 ENST00000339480 human ensembl 74_37 +1 known missense c.479 p.R160L 0.002 pfam_Connexin_CCC pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin303 - no_errors GJB4 HGNC ENSG00000189433 72 0 0 64 20 23.8095 AGO4 0 genome.wustl.edu 37 1 36291026 36291026 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 36291026 36291026 A G SNP AGO4 ENST00000373210 human ensembl 74_37 +1 known missense c.419 p.H140R 1.000 superfamily_PAZ_dom pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO4 HGNC ENSG00000134698 149 0 0 114 14 10.9375 ZC3H12A 0 genome.wustl.edu 37 1 37948726 37948726 + Silent SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 37948726 37948726 G T SNP ZC3H12A ENST00000373087 human ensembl 74_37 +1 known silent c.1314 p.S438 0.001 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12A HGNC ENSG00000163874 44 0 0 46 17 26.9841 C1orf174 0 genome.wustl.edu 37 1 3809521 3809521 + Nonsense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 3809521 3809521 G A SNP C1orf174 ENST00000361605 human ensembl 74_37 -1 known nonsense c.55 p.R19* 0.001 NULL NULL - no_errors C1orf174 HGNC ENSG00000198912 46 0 0 44 10 18.5185 RSPO1 0 genome.wustl.edu 37 1 38095330 38095330 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 38095330 38095330 G A SNP RSPO1 ENST00000356545 human ensembl 74_37 -1 known missense c.4 p.R2W 1.000 NULL pfam_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors RSPO1 HGNC ENSG00000169218 40 0 0 45 28 38.3562 EPHA10 0 genome.wustl.edu 37 1 38197190 38197190 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 38197190 38197190 A G SNP EPHA10 ENST00000427468 human ensembl 74_37 -1 known missense c.1556 p.L519P 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA10 HGNC ENSG00000183317 204 0 0 155 67 30.1802 SF3A3 0 genome.wustl.edu 37 1 38449889 38449889 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 38449889 38449889 G A SNP SF3A3 ENST00000373019 human ensembl 74_37 -1 known silent c.420 p.L140 0.530 NULL pfam_DUF3449,pfam_SF3a60_bindingd,pfscan_Znf_C2H2_matrin - no_errors SF3A3 HGNC ENSG00000183431 22 0 0 13 10 43.4783 MACF1 0 genome.wustl.edu 37 1 39775307 39775307 + Missense_Mutation SNP T T G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 39775307 39775307 T G SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known missense c.2870 p.L957R 1.000 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 105 0 0 52 22 29.7297 RLF 0 genome.wustl.edu 37 1 40701518 40701518 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 40701518 40701518 C T SNP RLF ENST00000372771 human ensembl 74_37 +1 known missense c.1144 p.L382F 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RLF HGNC ENSG00000117000 98 0 0 57 14 19.7183 EXO5 0 genome.wustl.edu 37 1 40981196 40981196 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 40981196 40981196 T C SNP EXO5 ENST00000296380 human ensembl 74_37 +1 known missense c.980 p.M327T 1.000 pfam_EXOV pfam_EXOV - no_errors EXO5 HGNC ENSG00000164002 70 0 0 49 20 28.9855 NFYC 0 genome.wustl.edu 37 1 41236429 41236429 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 41236429 41236429 G A SNP NFYC ENST00000308733 human ensembl 74_37 +1 known missense c.1306 p.A436T 1.000 NULL pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold - no_errors NFYC HGNC ENSG00000066136 122 0 0 89 36 28.8 EDN2 0 genome.wustl.edu 37 1 41945042 41945042 + RNA SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 41945042 41945042 C T SNP EDN2 ENST00000490783 human ensembl 74_37 -1 known rna NULL NULL 0.013 - - - no_errors EDN2 HGNC ENSG00000127129 35 0 0 33 9 21.4286 RIMKLA 0 genome.wustl.edu 37 1 42880422 42880422 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 42880422 42880422 C T SNP RIMKLA ENST00000431473 human ensembl 74_37 +1 known missense c.953 p.S318L 1.000 NULL pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX - no_errors RIMKLA HGNC ENSG00000177181 135 1 0.735294 94 37 28.2443 PPCS 0 genome.wustl.edu 37 1 42922972 42922972 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 42922972 42922972 T C SNP PPCS ENST00000372561 human ensembl 74_37 +1 known missense c.563 p.V188A 1.000 pfam_DNA/pantothenate-metab_flavo_C,superfamily_DNA/pantothenate-metab_flavo_C pfam_DNA/pantothenate-metab_flavo_C,superfamily_DNA/pantothenate-metab_flavo_C - no_errors PPCS HGNC ENSG00000127125 255 0 0 161 59 26.8182 SLC2A1 0 genome.wustl.edu 37 1 43393339 43393339 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 43393339 43393339 G A SNP SLC2A1 ENST00000426263 human ensembl 74_37 -1 known silent c.1215 p.A405 0.033 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Glu_transpt_1,tigrfam_Sugar/inositol_transpt - no_errors SLC2A1 HGNC ENSG00000117394 59 0 0 35 16 31.3725 PTPRF 0 genome.wustl.edu 37 1 44057017 44057017 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 44057017 44057017 G A SNP PTPRF ENST00000359947 human ensembl 74_37 +1 known missense c.1324 p.G442S 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 PTPRF HGNC ENSG00000142949 11 0 0 8 3 27.2727 DMAP1 0 genome.wustl.edu 37 1 44685707 44685707 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 44685707 44685707 C T SNP DMAP1 ENST00000315913 human ensembl 74_37 +1 known missense c.1070 p.T357M 1.000 pfam_DMAP1 pfam_DMAP1,superfamily_Homeodomain-like - no_errors DMAP1 HGNC ENSG00000178028 52 0 0 29 8 21.6216 BEST4 0 genome.wustl.edu 37 1 45251767 45251767 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 45251767 45251767 G A SNP BEST4 ENST00000372207 human ensembl 74_37 -1 known silent c.615 p.I205 0.926 pfam_Bestrophin/UPF0187 pfam_Bestrophin/UPF0187 - no_errors BEST4 HGNC ENSG00000142959 183 1 0.543478 149 51 25.5 MUTYH 0 genome.wustl.edu 37 1 45798819 45798819 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 45798819 45798819 G T SNP MUTYH ENST00000450313 human ensembl 74_37 -1 known missense c.412 p.Q138K 1.000 pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,smart_HhH-GPD_domain pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,superfamily_NUDIX_hydrolase_dom-like,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif - no_errors MUTYH HGNC ENSG00000132781 182 0 0 145 47 24.4792 OSBPL9 0 genome.wustl.edu 37 1 52238325 52238325 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 52238325 52238325 C A SNP OSBPL9 ENST00000371710 human ensembl 74_37 +1 known missense c.1154 p.S385Y 1.000 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL9 HGNC ENSG00000117859 176 0 0 107 40 27.2109 ORC1 0 genome.wustl.edu 37 1 52847336 52847336 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 52847336 52847336 G A SNP ORC1 ENST00000371566 human ensembl 74_37 -1 known missense c.2111 p.A704V 1.000 superfamily_P-loop_NTPase pfam_BAH_dom,pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,pfam_DUF2075,superfamily_P-loop_NTPase,smart_BAH_dom,smart_AAA+_ATPase,pfscan_BAH_dom - no_errors ORC1 HGNC ENSG00000085840 80 0 0 57 17 22.973 PODN 0 genome.wustl.edu 37 1 53544147 53544147 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 53544147 53544147 G A SNP PODN ENST00000312553 human ensembl 74_37 +1 known missense c.1109 p.R370Q 0.004 NULL pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp - no_errors PODN HGNC ENSG00000174348 125 0 0 94 30 24.1935 DMRTB1 0 genome.wustl.edu 37 1 53925145 53925145 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 53925145 53925145 C A SNP DMRTB1 ENST00000371445 human ensembl 74_37 +1 known missense c.19 p.R7S 1.000 pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRTB1 HGNC ENSG00000143006 66 0 0 59 19 24.359 YIPF1 0 genome.wustl.edu 37 1 54331937 54331937 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 54331937 54331937 C T SNP YIPF1 ENST00000539954 human ensembl 74_37 -1 known missense c.842 p.R281H 0.963 pfam_Yip1 pfam_Yip1,superfamily_Ribonuclease/ribotoxin - no_errors YIPF1 HGNC ENSG00000058799 111 0 0 61 24 28.2353 FGGY 0 genome.wustl.edu 37 1 60125950 60125950 + Silent SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 60125950 60125950 A G SNP FGGY ENST00000303721 human ensembl 74_37 +1 known silent c.1281 p.T427 0.946 pfam_Carb_kinase_FGGY_C,tigrfam_Carb_kinase_FGGY-rel pfam_Carb_kinase_FGGY_C,pfam_Carb_kinase_FGGY_N,tigrfam_Carb_kinase_FGGY-rel - no_errors FGGY HGNC ENSG00000172456 64 0 0 64 12 15.7895 RNF207 0 genome.wustl.edu 37 1 6272055 6272055 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 6272055 6272055 C T SNP RNF207 ENST00000377939 human ensembl 74_37 +1 novel missense c.1238 p.A413V 0.995 NULL pfam_Znf_B-box,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors RNF207 HGNC ENSG00000158286 17 0 0 11 4 26.6667 RNF207 0 genome.wustl.edu 37 1 6272090 6272090 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 6272090 6272090 C T SNP RNF207 ENST00000377948 human ensembl 74_37 +1 known missense c.425 p.P142L 1.000 NULL NULL - no_errors RNF207 HGNC ENSG00000158286 24 0 0 17 7 29.1667 KANK4 0 genome.wustl.edu 37 1 62732402 62732402 + Splice_Site SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 62732402 62732402 A G SNP KANK4 ENST00000371153 human ensembl 74_37 -1 known splice_site c.2319+2 e5+2 1.000 - - - no_errors KANK4 HGNC ENSG00000132854 111 0 0 70 19 21.3483 TNFRSF25 0 genome.wustl.edu 37 1 6522554 6522554 + RNA SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 6522554 6522554 T C SNP TNFRSF25 ENST00000475730 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TNFRSF25 HGNC ENSG00000215788 43 0 0 30 10 25 LRRC40 0 genome.wustl.edu 37 1 70654896 70654896 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 70654896 70654896 G A SNP LRRC40 ENST00000370952 human ensembl 74_37 -1 known missense c.212 p.S71L 0.946 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC40 HGNC ENSG00000066557 122 0 0 86 26 23.2143 ZRANB2 0 genome.wustl.edu 37 1 71536538 71536538 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 71536538 71536538 A G SNP ZRANB2 ENST00000370920 human ensembl 74_37 -1 known missense c.655 p.S219P 1.000 pirsf_UCP037956_Znf_RanB2 pfam_Znf_RanBP2,smart_Znf_RanBP2,pirsf_UCP037956_Znf_RanB2,pfscan_Znf_RanBP2 - no_errors ZRANB2 HGNC ENSG00000132485 177 0 0 114 17 12.9771 ASB17 0 genome.wustl.edu 37 1 76397950 76397950 + Silent SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 76397950 76397950 A G SNP ASB17 ENST00000284142 human ensembl 74_37 -1 known silent c.27 p.G9 0.001 NULL pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_SOCS_C,pfscan_SOCS_C - no_errors ASB17 HGNC ENSG00000154007 49 0 0 35 19 35.1852 PIGK 0 genome.wustl.edu 37 1 77587958 77587958 + Splice_Site SNP A A C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 77587958 77587958 A C SNP PIGK ENST00000370812 human ensembl 74_37 -1 known splice_site c.1071+2 e10+2 1.000 - - - no_errors PIGK HGNC ENSG00000142892 40 0 0 30 11 26.8293 AK5 0 genome.wustl.edu 37 1 77987583 77987583 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 77987583 77987583 C T SNP AK5 ENST00000354567 human ensembl 74_37 +1 known silent c.1383 p.D461 0.803 pfam_Adenylate_kin,superfamily_P-loop_NTPase,prints_Adenylate_kin,tigrfam_Adenylate_kin1 pfam_Adenylate_kin,pfam_Dpy-30_motif,superfamily_P-loop_NTPase,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin,tigrfam_Adenylate_kin1 - no_errors AK5 HGNC ENSG00000154027 65 0 0 48 15 23.8095 RERE 0 genome.wustl.edu 37 1 8421496 8421496 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 8421496 8421496 G A SNP RERE ENST00000337907 human ensembl 74_37 -1 known missense c.2071 p.R691C 1.000 pfam_Atrophin-like pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC ENSG00000142599 100 0 0 63 28 30.7692 HS2ST1 0 genome.wustl.edu 37 1 87599323 87599323 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 87599323 87599323 C T SNP HS2ST1 ENST00000356813 human ensembl 74_37 +1 known missense c.793 p.R265W 0.000 NULL pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS2ST1 HGNC ENSG00000153936 21 0 0 14 12 46.1538 KLHL17 0 genome.wustl.edu 37 1 899383 899383 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 899383 899383 C T SNP KLHL17 ENST00000338591 human ensembl 74_37 +1 known missense c.1439 p.T480M 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL17 HGNC ENSG00000187961 167 0 0 116 62 34.8315 CA6 0 genome.wustl.edu 37 1 9027746 9027746 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 9027746 9027746 C T SNP CA6 ENST00000377443 human ensembl 74_37 +1 known silent c.600 p.D200 0.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA6 HGNC ENSG00000131686 130 1 0.763359 86 27 23.8938 PLEKHN1 0 genome.wustl.edu 37 1 907764 907764 + Missense_Mutation SNP C C G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 907764 907764 C G SNP PLEKHN1 ENST00000379409 human ensembl 74_37 +1 known missense c.1118 p.A373G 0.000 NULL smart_Pleckstrin_homology - no_errors PLEKHN1 HGNC ENSG00000187583 10 0 0 17 4 19.0476 LZTS2 0 genome.wustl.edu 37 10 102763509 102763509 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 102763509 102763509 C T SNP LZTS2 ENST00000370220 human ensembl 74_37 +1 known silent c.654 p.S218 0.033 NULL NULL - no_errors LZTS2 HGNC ENSG00000107816 327 0 0 249 73 22.6708 KAZALD1 0 genome.wustl.edu 37 10 102824771 102824771 + RNA SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 102824771 102824771 C T SNP KAZALD1 ENST00000477979 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors KAZALD1 HGNC ENSG00000107821 14 0 0 9 4 30.7692 NEURL 0 genome.wustl.edu 37 10 105344877 105344877 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 105344877 105344877 A G SNP NEURL ENST00000369780 human ensembl 74_37 +1 known missense c.1234 p.S412G 1.000 smart_Neu_Z,pfscan_Neu_Z pfam_Neu_Z,smart_Neu_Z,pfscan_Neu_Z,pfscan_Znf_RING - no_errors NEURL HGNC ENSG00000107954 22 0 0 13 3 18.75 ADRB1 0 genome.wustl.edu 37 10 115804702 115804702 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 115804702 115804702 C T SNP ADRB1 ENST00000369295 human ensembl 74_37 +1 known missense c.811 p.R271W 0.642 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_ADRB1_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_ADRB1_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,prints_5HT6_rcpt - no_errors ADRB1 HGNC ENSG00000043591 20 0 0 26 5 16.129 TRUB1 0 genome.wustl.edu 37 10 116730145 116730145 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 116730145 116730145 A G SNP TRUB1 ENST00000298746 human ensembl 74_37 +1 known missense c.542 p.D181G 1.000 pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom,tigrfam_tRNA_psdUridine_synth_TruB pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom,tigrfam_tRNA_psdUridine_synth_TruB - no_errors TRUB1 HGNC ENSG00000165832 94 0 0 103 38 26.9504 VAX1 0 genome.wustl.edu 37 10 118896101 118896101 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 118896101 118896101 C T SNP VAX1 ENST00000369206 human ensembl 74_37 -1 known missense c.311 p.R104H 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors VAX1 HGNC ENSG00000148704 84 0 0 51 20 28.169 EIF3A 0 genome.wustl.edu 37 10 120801864 120801864 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 120801864 120801864 C T SNP EIF3A ENST00000369144 human ensembl 74_37 -1 known silent c.3168 p.E1056 0.200 NULL pfam_PCI_dom,smart_PCI_dom - no_errors EIF3A HGNC ENSG00000107581 425 0 0 289 92 24.147 CPXM2 0 genome.wustl.edu 37 10 125521573 125521573 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 125521573 125521573 C T SNP CPXM2 ENST00000241305 human ensembl 74_37 -1 known missense c.1592 p.R531Q 0.982 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors CPXM2 HGNC ENSG00000121898 161 1 0.617284 128 32 20 FAM175B 0 genome.wustl.edu 37 10 126495401 126495401 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 126495401 126495401 A G SNP FAM175B ENST00000298492 human ensembl 74_37 +1 known missense c.74 p.E25G 1.000 prints_FAM175 prints_FAM175_BRISC_cplx_Abro1_su,prints_FAM175 - no_errors FAM175B HGNC ENSG00000165660 69 0 0 64 7 9.85915 MKI67 0 genome.wustl.edu 37 10 129905447 129905447 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 129905447 129905447 C T SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known missense c.4657 p.A1553T 0.000 pfam_K167R pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 306 1 0.325733 211 80 27.4914 CCDC3 0 genome.wustl.edu 37 10 13040383 13040383 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 13040383 13040383 C A SNP CCDC3 ENST00000378825 human ensembl 74_37 -1 known missense c.504 p.Q168H 0.230 NULL NULL - no_errors CCDC3 HGNC ENSG00000151468 82 0 0 60 22 26.8293 EBF3 0 genome.wustl.edu 37 10 131761786 131761786 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 131761786 131761786 C T SNP EBF3 ENST00000355311 human ensembl 74_37 -1 known missense c.136 p.G46S 1.000 NULL pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF3 HGNC ENSG00000108001 41 0 0 41 14 25.4545 PWWP2B 0 genome.wustl.edu 37 10 134218325 134218325 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 134218325 134218325 G A SNP PWWP2B ENST00000305233 human ensembl 74_37 +1 known silent c.321 p.P107 0.001 NULL pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom - no_errors PWWP2B HGNC ENSG00000171813 16 0 0 14 3 17.6471 NMT2 0 genome.wustl.edu 37 10 15161388 15161388 + Missense_Mutation SNP T T G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 15161388 15161388 T G SNP NMT2 ENST00000378165 human ensembl 74_37 -1 known missense c.1124 p.H375P 1.000 pfam_MyristoylCoA_TrFase_C,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase - no_errors NMT2 HGNC ENSG00000152465 211 0 0 110 28 20.2899 ITGA8 0 genome.wustl.edu 37 10 15760807 15760807 + Nonsense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 15760807 15760807 C A SNP ITGA8 ENST00000378076 human ensembl 74_37 -1 known nonsense c.301 p.E101* 0.001 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA8 HGNC ENSG00000077943 163 0 0 153 41 21.134 CACNB2 0 genome.wustl.edu 37 10 18803225 18803225 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 18803225 18803225 G A SNP CACNB2 ENST00000324631 human ensembl 74_37 +1 known missense c.731 p.R244H 1.000 superfamily_SH3_domain,prints_VDCC_L_b2su 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 101 0 0 47 25 34.7222 KIAA1217 0 genome.wustl.edu 37 10 24508698 24508698 + Missense_Mutation SNP C C G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 24508698 24508698 C G SNP KIAA1217 ENST00000376454 human ensembl 74_37 +1 known missense c.214 p.P72A 1.000 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 99 0 0 61 22 26.506 YME1L1 0 genome.wustl.edu 37 10 27411773 27411773 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 27411773 27411773 T C SNP YME1L1 ENST00000326799 human ensembl 74_37 -1 known missense c.1403 p.D468G 1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH pfam_Peptidase_M41,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH - no_errors YME1L1 HGNC ENSG00000136758 64 0 0 55 19 25.6757 FZD8 0 genome.wustl.edu 37 10 35929556 35929556 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 35929556 35929556 A G SNP FZD8 ENST00000374694 human ensembl 74_37 -1 known missense c.802 p.F268L 1.000 pfam_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD8 HGNC ENSG00000177283 71 0 0 66 25 27.4725 ALOX5 0 genome.wustl.edu 37 10 45938728 45938728 + RNA SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 45938728 45938728 C T SNP ALOX5 ENST00000481117 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ALOX5 HGNC ENSG00000012779 80 0 0 56 30 34.8837 FRMPD2 0 genome.wustl.edu 37 10 49420083 49420083 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 49420083 49420083 C T SNP FRMPD2 ENST00000374201 human ensembl 74_37 -1 known missense c.1525 p.A509T 0.001 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC ENSG00000170324 56 0 0 38 16 29.6296 C10orf53 0 genome.wustl.edu 37 10 50901943 50901943 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 50901943 50901943 A G SNP C10orf53 ENST00000374113 human ensembl 74_37 +1 known missense c.221 p.K74R 0.994 NULL NULL - no_errors C10orf53 HGNC ENSG00000178645 68 0 0 37 18 32.7273 PRKG1 0 genome.wustl.edu 37 10 52751304 52751304 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 52751304 52751304 C A SNP PRKG1 ENST00000401604 human ensembl 74_37 +1 known missense c.166 p.P56T 1.000 pirsf_cGMP-dependent_protein_kinase,superfamily_cNMP-bd-like pirsf_cGMP-dependent_protein_kinase,pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom - no_errors PRKG1 HGNC ENSG00000185532 13 0 0 13 9 40.9091 PHYHIPL 0 genome.wustl.edu 37 10 60996388 60996388 + Nonsense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 60996388 60996388 G A SNP PHYHIPL ENST00000373880 human ensembl 74_37 +1 known nonsense c.449 p.W150* 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PHYHIPL HGNC ENSG00000165443 60 0 0 54 19 26.0274 ANK3 0 genome.wustl.edu 37 10 61956355 61956355 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 61956355 61956355 G A SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.1718 p.A573V 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 47 0 0 27 11 28.9474 LRRTM3 0 genome.wustl.edu 37 10 68687080 68687080 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 68687080 68687080 C T SNP LRRTM3 ENST00000361320 human ensembl 74_37 +1 known missense c.406 p.R136W 0.994 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM3 HGNC ENSG00000198739 191 0 0 105 45 30 SFMBT2 0 genome.wustl.edu 37 10 7213935 7213935 + Silent SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 7213935 7213935 T C SNP SFMBT2 ENST00000361972 human ensembl 74_37 -1 known silent c.2337 p.R779 0.001 NULL pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC ENSG00000198879 10 0 0 14 5 26.3158 ADAMTS14 0 genome.wustl.edu 37 10 72462141 72462141 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 72462141 72462141 C T SNP ADAMTS14 ENST00000373208 human ensembl 74_37 +1 known missense c.596 p.A199V 0.916 pfam_Peptidase_M12B_N pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS14 HGNC ENSG00000138316 101 0 0 77 31 28.7037 CDH23 0 genome.wustl.edu 37 10 73270887 73270887 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 73270887 73270887 G A SNP CDH23 ENST00000461841 human ensembl 74_37 +1 known missense c.482 p.R161Q 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 192 0 0 132 40 23.2558 CDH23 0 genome.wustl.edu 37 10 73501453 73501453 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 73501453 73501453 C T SNP CDH23 ENST00000224721 human ensembl 74_37 +1 putative silent c.4635 p.N1545 0.990 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 32 0 0 13 3 18.75 SYNPO2L 0 genome.wustl.edu 37 10 75407024 75407024 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 75407024 75407024 G A SNP SYNPO2L ENST00000394810 human ensembl 74_37 -1 known missense c.2386 p.P796S 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2L HGNC ENSG00000166317 249 0 0 184 55 23.0126 ZNF503 0 genome.wustl.edu 37 10 77158837 77158837 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 77158837 77158837 G A SNP ZNF503 ENST00000372524 human ensembl 74_37 -1 known silent c.1611 p.S537 1.000 pfscan_Znf_C2H2 pfam_Tscrpt_rep_NocA-like,pfscan_Znf_C2H2 - no_errors ZNF503 HGNC ENSG00000165655 43 0 0 42 13 23.6364 ITIH2 0 genome.wustl.edu 37 10 7774331 7774331 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 7774331 7774331 G T SNP ITIH2 ENST00000358415 human ensembl 74_37 +1 known missense c.1678 p.A560S 0.032 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH2 HGNC ENSG00000151655 63 0 0 45 13 22.4138 MAT1A 0 genome.wustl.edu 37 10 82049113 82049113 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 82049113 82049113 C T SNP MAT1A ENST00000372213 human ensembl 74_37 -1 known missense c.67 p.E23K 1.000 pfam_S-AdoMet_synt_N,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase pfam_S-AdoMet_synt_C,pfam_S-AdoMet_synt_central,pfam_S-AdoMet_synt_N,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase - no_errors MAT1A HGNC ENSG00000151224 146 0 0 71 24 25.2632 LARP4B 0 genome.wustl.edu 37 10 860914 860914 + Nonsense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 860914 860914 G A SNP LARP4B ENST00000316157 human ensembl 74_37 -1 known nonsense c.1792 p.R598* 0.302 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC ENSG00000107929 81 0 0 61 17 21.7949 PLCE1 0 genome.wustl.edu 37 10 95891942 95891942 + Silent SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 95891942 95891942 A G SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known silent c.1218 p.A406 1.000 superfamily_Ras_GEF_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 60 0 0 37 14 27.451 PLCE1 0 genome.wustl.edu 37 10 96006283 96006283 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 96006283 96006283 G A SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known missense c.3001 p.G1001R 1.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 105 0 0 87 13 13 PLCE1 0 genome.wustl.edu 37 10 96039636 96039636 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 96039636 96039636 A G SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known missense c.4763 p.E1588G 1.000 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 90 0 0 55 13 19.1176 PIK3AP1 0 genome.wustl.edu 37 10 98412547 98412547 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 98412547 98412547 G A SNP PIK3AP1 ENST00000339364 human ensembl 74_37 -1 known missense c.620 p.A207V 0.000 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors PIK3AP1 HGNC ENSG00000155629 190 0 0 149 47 23.9796 FRAT1 0 genome.wustl.edu 37 10 99079991 99079991 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 99079991 99079991 G T SNP FRAT1 ENST00000371021 human ensembl 74_37 +1 known missense c.781 p.G261C 0.062 NULL pfam_GSK3-bd - no_errors FRAT1 HGNC ENSG00000165879 15 0 0 11 3 21.4286 PGR 0 genome.wustl.edu 37 11 100998971 100998971 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 100998971 100998971 C T SNP PGR ENST00000325455 human ensembl 74_37 -1 known silent c.831 p.A277 0.008 pfam_Progest_rcpt pfam_Progest_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Progest_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors PGR HGNC ENSG00000082175 16 0 0 21 5 19.2308 MUC6 0 genome.wustl.edu 37 11 1025844 1025844 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 1025844 1025844 G A SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known silent c.2760 p.S920 0.028 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 39 0 0 17 12 41.3793 MMP8 0 genome.wustl.edu 37 11 102593290 102593290 + Missense_Mutation SNP T T G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 102593290 102593290 T G SNP MMP8 ENST00000236826 human ensembl 74_37 -1 known missense c.217 p.N73H 0.002 pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like,pirsf_Pept_M10A_Metazoans pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP8 HGNC ENSG00000118113 144 0 0 112 32 22.2222 DDI1 0 genome.wustl.edu 37 11 103908681 103908681 + Silent SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 103908681 103908681 T C SNP DDI1 ENST00000302259 human ensembl 74_37 +1 known silent c.1131 p.D377 0.171 NULL pfam_Peptidase_aspartic_DDI1-type,pfam_Ubiquitin_dom,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors DDI1 HGNC ENSG00000170967 61 0 0 46 13 22.0339 GRIA4 0 genome.wustl.edu 37 11 105850546 105850546 + RNA SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 105850546 105850546 C T SNP GRIA4 ENST00000533094 human ensembl 74_37 +1 putative rna NULL NULL 0.006 - - - no_errors GRIA4 HGNC ENSG00000152578 15 0 0 9 4 30.7692 CTR9 0 genome.wustl.edu 37 11 10794800 10794800 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 10794800 10794800 A G SNP CTR9 ENST00000361367 human ensembl 74_37 +1 known missense c.2707 p.R903G 0.976 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CTR9 HGNC ENSG00000198730 73 0 0 49 23 31.9444 NPAT 0 genome.wustl.edu 37 11 108043984 108043984 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 108043984 108043984 T C SNP NPAT ENST00000278612 human ensembl 74_37 -1 known missense c.1727 p.H576R 0.462 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors NPAT HGNC ENSG00000149308 64 0 0 42 24 36.3636 ATM 0 genome.wustl.edu 37 11 108143578 108143578 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 108143578 108143578 A G SNP ATM ENST00000278616 human ensembl 74_37 +1 known missense c.3283 p.R1095G 0.994 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 103 0 0 49 13 20.9677 MUC2 0 genome.wustl.edu 37 11 1094755 1094755 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 1094755 1094755 C T SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known missense c.5843 p.T1948M 0.005 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 191 0 0 167 50 23.0415 SIK2 0 genome.wustl.edu 37 11 111593411 111593411 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 111593411 111593411 C T SNP SIK2 ENST00000304987 human ensembl 74_37 +1 known missense c.2078 p.A693V 1.000 pirsf_Ser/Thr_kinase_SIK1/2 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,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK2 HGNC ENSG00000170145 168 0 0 107 24 18.3206 ZW10 0 genome.wustl.edu 37 11 113618308 113618308 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 113618308 113618308 T C SNP ZW10 ENST00000200135 human ensembl 74_37 -1 known missense c.1217 p.D406G 1.000 pfam_RZZ-complex_Zw10 pfam_RZZ-complex_Zw10 - no_errors ZW10 HGNC ENSG00000086827 209 0 0 117 46 28.2209 RNF214 0 genome.wustl.edu 37 11 117153534 117153534 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 117153534 117153534 G A SNP RNF214 ENST00000300650 human ensembl 74_37 +1 known missense c.1918 p.A640T 1.000 NULL pfscan_Znf_RING - no_errors RNF214 HGNC ENSG00000167257 79 0 0 68 18 20.9302 KMT2A 0 genome.wustl.edu 37 11 118391558 118391558 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 118391558 118391558 G A SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known missense c.11462 p.R3821Q 1.000 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 49 0 0 42 10 19.2308 BCL9L 0 genome.wustl.edu 37 11 118769762 118769762 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 118769762 118769762 G A SNP BCL9L ENST00000334801 human ensembl 74_37 -1 known missense c.3862 p.R1288C 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 28 0 0 39 9 18.75 HINFP 0 genome.wustl.edu 37 11 119004838 119004838 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 119004838 119004838 G A SNP HINFP ENST00000350777 human ensembl 74_37 +1 known missense c.1184 p.R395H 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HINFP HGNC ENSG00000172273 96 0 0 74 26 26 USP2 0 genome.wustl.edu 37 11 119228271 119228271 + Nonsense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 119228271 119228271 G A SNP USP2 ENST00000260187 human ensembl 74_37 -1 known nonsense c.1531 p.R511* 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP2 HGNC ENSG00000036672 104 0 0 81 28 25.6881 DKK3 0 genome.wustl.edu 37 11 12029928 12029928 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 12029928 12029928 C T SNP DKK3 ENST00000326932 human ensembl 74_37 -1 known missense c.202 p.A68T 1.000 NULL pfam_Dickkopf_N - no_errors DKK3 HGNC ENSG00000050165 36 0 0 18 14 43.75 SORL1 0 genome.wustl.edu 37 11 121475017 121475017 + Silent SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 121475017 121475017 T C SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known silent c.4635 p.D1545 0.854 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 89 0 0 73 18 19.7802 OR4D5 0 genome.wustl.edu 37 11 123810952 123810952 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 123810952 123810952 G A SNP OR4D5 ENST00000307033 human ensembl 74_37 +1 known missense c.629 p.C210Y 0.997 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D5 HGNC ENSG00000171014 284 0 0 223 74 24.9158 OR10G4 0 genome.wustl.edu 37 11 123886567 123886567 + Missense_Mutation SNP T T G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 123886567 123886567 T G SNP OR10G4 ENST00000320891 human ensembl 74_37 +1 known missense c.286 p.C96G 0.917 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G4 HGNC ENSG00000254737 72 0 0 55 18 24.6575 OR10G7 0 genome.wustl.edu 37 11 123909354 123909354 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 123909354 123909354 A G SNP OR10G7 ENST00000330487 human ensembl 74_37 -1 known missense c.355 p.Y119H 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G7 HGNC ENSG00000182634 199 0 0 158 36 18.5567 OR8G1 0 genome.wustl.edu 37 11 124121072 124121072 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 124121072 124121072 C T SNP OR8G1 ENST00000341493 human ensembl 74_37 +1 known missense c.650 p.S217F 0.029 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8G1 HGNC ENSG00000197849 114 0 0 58 23 28.3951 CHEK1 0 genome.wustl.edu 37 11 125523731 125523731 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 125523731 125523731 C T SNP CHEK1 ENST00000438015 human ensembl 74_37 +1 known missense c.1324 p.R442W 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CHEK1 HGNC ENSG00000149554 64 0 0 41 14 25.4545 ARHGAP32 0 genome.wustl.edu 37 11 128840993 128840993 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 128840993 128840993 G A SNP ARHGAP32 ENST00000310343 human ensembl 74_37 -1 known missense c.4073 p.A1358V 0.000 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 67 0 0 65 12 15.5844 ADAMTS15 0 genome.wustl.edu 37 11 130332143 130332143 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 130332143 130332143 G A SNP ADAMTS15 ENST00000299164 human ensembl 74_37 +1 known missense c.1252 p.G418R 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B 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_Peptidase_M12B_ADAM-TS,prints_Pept_M12B_ADAM-TS8 - no_errors ADAMTS15 HGNC ENSG00000166106 62 0 0 36 13 26.5306 SNX19 0 genome.wustl.edu 37 11 130785480 130785480 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 130785480 130785480 G A SNP SNX19 ENST00000265909 human ensembl 74_37 -1 known missense c.355 p.R119C 0.059 pfam_Phox_assoc,smart_PX_assoc_Snx13,pfscan_Phox_assoc pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,superfamily_Phox,smart_PX_assoc_Snx13,smart_Phox,pfscan_Phox,pfscan_Phox_assoc - no_errors SNX19 HGNC ENSG00000120451 67 0 0 53 24 31.1688 NTM 0 genome.wustl.edu 37 11 132205024 132205024 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 132205024 132205024 T C SNP NTM ENST00000539799 human ensembl 74_37 +1 known missense c.1052 p.L351P 0.937 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors NTM HGNC ENSG00000182667 90 0 0 80 24 23.0769 GLB1L3 0 genome.wustl.edu 37 11 134179567 134179567 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 134179567 134179567 A G SNP GLB1L3 ENST00000431683 human ensembl 74_37 +1 known missense c.1009 p.N337D 0.999 pfam_Glycoside_Hdrlase_35,superfamily_Glycoside_hydrolase_SF,prints_Glycoside_Hdrlase_35 pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1L3 HGNC ENSG00000166105 31 0 0 16 9 36 SPON1 0 genome.wustl.edu 37 11 14284280 14284280 + RNA SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 14284280 14284280 G T SNP SPON1 ENST00000310358 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SPON1 HGNC ENSG00000152268 59 0 0 45 10 18.1818 SOX6 0 genome.wustl.edu 37 11 15994374 15994374 + Missense_Mutation SNP T T G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 15994374 15994374 T G SNP SOX6 ENST00000352083 human ensembl 74_37 -1 known missense c.2468 p.E823A 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX6 HGNC ENSG00000110693 130 0 0 76 27 26.2136 PIK3C2A 0 genome.wustl.edu 37 11 17170280 17170280 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 17170280 17170280 T C SNP PIK3C2A ENST00000265970 human ensembl 74_37 -1 known missense c.1382 p.D461G 1.000 pfam_PI3K_Ras-bd_dom,smart_PI3K_Ras-bd_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2A HGNC ENSG00000011405 33 0 0 27 10 27.027 SYT8 0 genome.wustl.edu 37 11 1858494 1858494 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 1858494 1858494 C A SNP SYT8 ENST00000381968 human ensembl 74_37 +1 known missense c.1039 p.L347M 0.246 superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT8 HGNC ENSG00000149043 39 0 0 34 11 24.4444 NAV2 0 genome.wustl.edu 37 11 20129269 20129269 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 20129269 20129269 G A SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known missense c.7078 p.D2360N 1.000 superfamily_P-loop_NTPase pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 425 1 0.234742 289 112 27.9302 ANO5 0 genome.wustl.edu 37 11 22257743 22257743 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 22257743 22257743 T C SNP ANO5 ENST00000324559 human ensembl 74_37 +1 known missense c.683 p.I228T 0.037 NULL pfam_Anoctamin - no_errors ANO5 HGNC ENSG00000171714 61 0 0 41 19 31.6667 KCNQ1OT1 0 genome.wustl.edu 37 11 2683459 2683459 + RNA SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 2683459 2683459 C T SNP KCNQ1OT1 ENST00000597346 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors KCNQ1OT1 HGNC ENSG00000269821 20 0 0 20 5 20 METTL15 0 genome.wustl.edu 37 11 28135070 28135070 + Missense_Mutation SNP A A T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 28135070 28135070 A T SNP METTL15 ENST00000303459 human ensembl 74_37 +1 known missense c.189 p.R63S 0.002 NULL pfam_RsmH,superfamily_SAM-dep_MeTrfase_MraW_recog,tigrfam_RsmH - no_errors METTL15 HGNC ENSG00000169519 63 0 0 39 14 26.4151 ATHL1 0 genome.wustl.edu 37 11 294564 294564 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 294564 294564 G A SNP ATHL1 ENST00000409548 human ensembl 74_37 +1 known missense c.2029 p.V677I 0.271 NULL pfam_Glyco_hydro_65_M,superfamily_6-hairpin_glycosidase-like - no_errors ATHL1 HGNC ENSG00000142102 166 0 0 136 57 29.5337 DCDC1 0 genome.wustl.edu 37 11 30900223 30900223 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 30900223 30900223 C T SNP DCDC1 ENST00000597505 human ensembl 74_37 -1 putative missense c.5260 p.A1754T 0.973 NULL pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Doublecortin_dom,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin - no_errors DCDC1 HGNC ENSG00000170959 59 0 0 41 9 18 DCDC1 0 genome.wustl.edu 37 11 30974099 30974099 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 30974099 30974099 C T SNP DCDC1 ENST00000597505 human ensembl 74_37 -1 putative missense c.2608 p.E870K 0.952 NULL pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Doublecortin_dom,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin - no_errors DCDC1 HGNC ENSG00000170959 10 0 0 10 6 37.5 FJX1 0 genome.wustl.edu 37 11 35640853 35640853 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 35640853 35640853 G A SNP FJX1 ENST00000317811 human ensembl 74_37 +1 known silent c.669 p.A223 0.988 NULL pfam_DUF1193 - no_errors FJX1 HGNC ENSG00000179431 16 0 0 13 4 23.5294 NUP98 0 genome.wustl.edu 37 11 3697576 3697576 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 3697576 3697576 C T SNP NUP98 ENST00000324932 human ensembl 74_37 -1 known missense c.5216 p.R1739H 1.000 NULL pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59 - no_errors NUP98 HGNC ENSG00000110713 94 0 0 76 26 25.4902 B4GALNT4 0 genome.wustl.edu 37 11 377213 377213 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 377213 377213 G A SNP B4GALNT4 ENST00000329962 human ensembl 74_37 +1 known missense c.2090 p.R697H 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_PA14,smart_PA14 - no_errors B4GALNT4 HGNC ENSG00000182272 15 0 0 9 3 25 STIM1 0 genome.wustl.edu 37 11 3877513 3877513 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 3877513 3877513 G A SNP STIM1 ENST00000300737 human ensembl 74_37 +1 known missense c.13 p.V5I 0.863 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors STIM1 HGNC ENSG00000167323 133 0 0 89 35 28.2258 ALKBH3 0 genome.wustl.edu 37 11 43923081 43923081 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 43923081 43923081 C T SNP ALKBH3 ENST00000302708 human ensembl 74_37 +1 known missense c.475 p.R159C 0.631 NULL pfam_Oxoglu/Fe-dep_dioxygenase - no_errors ALKBH3 HGNC ENSG00000166199 135 0 0 71 23 24.4681 CD82 0 genome.wustl.edu 37 11 44640247 44640247 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 44640247 44640247 G A SNP CD82 ENST00000227155 human ensembl 74_37 +1 known missense c.700 p.V234M 1.000 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors CD82 HGNC ENSG00000085117 79 0 0 65 22 25.2874 PHF21A 0 genome.wustl.edu 37 11 45991420 45991420 + Silent SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 45991420 45991420 T C SNP PHF21A ENST00000257821 human ensembl 74_37 -1 known silent c.648 p.V216 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21A HGNC ENSG00000135365 43 0 0 16 13 44.8276 CHRM4 0 genome.wustl.edu 37 11 46407532 46407532 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 46407532 46407532 G A SNP CHRM4 ENST00000433765 human ensembl 74_37 -1 known silent c.576 p.N192 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn,prints_Musac_Ach_M4_rcpt - no_errors CHRM4 HGNC ENSG00000180720 37 0 0 24 9 27.2727 NUP160 0 genome.wustl.edu 37 11 47827774 47827774 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 47827774 47827774 G T SNP NUP160 ENST00000378460 human ensembl 74_37 -1 known missense c.2537 p.P846H 0.998 NULL pfam_Nucleoporin_Nup160 - no_errors NUP160 HGNC ENSG00000030066 77 0 0 55 15 21.4286 LOC440040 0 genome.wustl.edu 37 11 49598070 49598070 + RNA SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 49598070 49598070 G T SNP LOC440040 ENST00000527477 human ensembl 74_37 +1 known rna NULL NULL 0.991 - - - no_errors RP11-707M1.1 Clone_based_vega_gene ENSG00000205035 42 0 0 32 7 17.9487 OR51L1 0 genome.wustl.edu 37 11 5020589 5020589 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 5020589 5020589 T C SNP OR51L1 ENST00000321543 human ensembl 74_37 +1 known missense c.377 p.V126A 0.996 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51L1 HGNC ENSG00000176798 251 0 0 146 63 30.1435 OR51B6 0 genome.wustl.edu 37 11 5373560 5373560 + Missense_Mutation SNP A A T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 5373560 5373560 A T SNP OR51B6 ENST00000380219 human ensembl 74_37 +1 known missense c.823 p.S275C 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR51B6 HGNC ENSG00000176239 161 0 0 85 35 29.1667 UBQLN3 0 genome.wustl.edu 37 11 5529845 5529845 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 5529845 5529845 C A SNP UBQLN3 ENST00000311659 human ensembl 74_37 -1 known missense c.944 p.S315I 0.012 NULL pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN3 HGNC ENSG00000175520 86 0 0 75 5 6.25 OR4C15 0 genome.wustl.edu 37 11 55322291 55322291 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 55322291 55322291 C T SNP OR4C15 ENST00000314644 human ensembl 74_37 +1 known missense c.509 p.A170V 0.016 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C15 HGNC ENSG00000181939 160 0 0 100 37 27.0073 OR5W2 0 genome.wustl.edu 37 11 55681359 55681359 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 55681359 55681359 T C SNP OR5W2 ENST00000344514 human ensembl 74_37 -1 known missense c.700 p.R234G 0.576 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5W2 HGNC ENSG00000187612 75 0 0 53 14 20.8955 OR10AG1 0 genome.wustl.edu 37 11 55735082 55735082 + Missense_Mutation SNP T T A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 55735082 55735082 T A SNP OR10AG1 ENST00000312345 human ensembl 74_37 -1 known missense c.858 p.K286N 0.999 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10AG1 HGNC ENSG00000174970 36 0 0 26 15 36.5854 OR8I2 0 genome.wustl.edu 37 11 55861422 55861422 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 55861422 55861422 C T SNP OR8I2 ENST00000302124 human ensembl 74_37 +1 known silent c.639 p.I213 0.006 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8I2 HGNC ENSG00000172154 114 0 0 83 29 25.8929 SMTNL1 0 genome.wustl.edu 37 11 57310769 57310769 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 57310769 57310769 C T SNP SMTNL1 ENST00000457912 human ensembl 74_37 +1 known silent c.708 p.P236 0.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTNL1 HGNC ENSG00000214872 59 0 0 39 12 23.5294 OR52N2 0 genome.wustl.edu 37 11 5841795 5841795 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 5841795 5841795 C T SNP OR52N2 ENST00000317037 human ensembl 74_37 +1 known missense c.230 p.T77I 0.116 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52N2 HGNC ENSG00000180988 184 0 0 121 42 25.7669 OR52N2 0 genome.wustl.edu 37 11 5841886 5841886 + Silent SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 5841886 5841886 T C SNP OR52N2 ENST00000317037 human ensembl 74_37 +1 known silent c.321 p.H107 0.010 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52N2 HGNC ENSG00000180988 158 0 0 93 27 22.5 OR52E8 0 genome.wustl.edu 37 11 5878878 5878878 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 5878878 5878878 G T SNP OR52E8 ENST00000537935 human ensembl 74_37 -1 known missense c.55 p.L19I 0.924 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52E8 HGNC ENSG00000183269 182 0 0 116 24 17.1429 MS4A3 0 genome.wustl.edu 37 11 59828514 59828514 + RNA SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 59828514 59828514 A G SNP MS4A3 ENST00000526199 human ensembl 74_37 +1 putative rna NULL NULL 0.001 - - - no_errors MS4A3 HGNC ENSG00000149516 27 0 0 10 9 47.3684 TMEM109 0 genome.wustl.edu 37 11 60687353 60687353 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 60687353 60687353 G T SNP TMEM109 ENST00000227525 human ensembl 74_37 +1 known missense c.188 p.G63V 0.001 NULL NULL - no_errors TMEM109 HGNC ENSG00000110108 126 0 0 77 28 26.6667 CYB561A3 0 genome.wustl.edu 37 11 61124253 61124253 + RNA SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 61124253 61124253 C T SNP CYB561A3 ENST00000535152 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CYB561A3 HGNC ENSG00000162144 51 0 0 20 7 25.9259 SYT7 0 genome.wustl.edu 37 11 61323632 61323632 + Missense_Mutation SNP T T G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 61323632 61323632 T G SNP SYT7 ENST00000263846 human ensembl 74_37 -1 known missense c.79 p.S27R 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT7 HGNC ENSG00000011347 35 0 0 30 15 33.3333 RAB3IL1 0 genome.wustl.edu 37 11 61675532 61675532 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 61675532 61675532 C T SNP RAB3IL1 ENST00000394836 human ensembl 74_37 -1 known silent c.258 p.A86 0.953 NULL pfam_Sec2p - no_errors RAB3IL1 HGNC ENSG00000167994 103 0 0 85 25 22.7273 INCENP 0 genome.wustl.edu 37 11 61897762 61897762 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 61897762 61897762 T C SNP INCENP ENST00000394818 human ensembl 74_37 +1 known missense c.763 p.S255P 0.840 NULL pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd - no_errors INCENP HGNC ENSG00000149503 123 0 0 109 44 28.7582 AHNAK 0 genome.wustl.edu 37 11 62290261 62290261 + Silent SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 62290261 62290261 A G SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known silent c.11628 p.P3876 0.424 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 424 0 0 290 89 23.4828 CCKBR 0 genome.wustl.edu 37 11 6291484 6291484 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 6291484 6291484 C T SNP CCKBR ENST00000525462 human ensembl 74_37 +1 known silent c.570 p.P190 0.008 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors CCKBR HGNC ENSG00000110148 111 0 0 89 37 29.3651 TRPT1 0 genome.wustl.edu 37 11 63992129 63992129 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 63992129 63992129 G A SNP TRPT1 ENST00000394546 human ensembl 74_37 -1 known missense c.394 p.H132Y 1.000 pfam_Ptrans_KptA/Tpt1 pfam_Ptrans_KptA/Tpt1 - no_errors TRPT1 HGNC ENSG00000149743 92 0 0 63 21 25 GPR137 0 genome.wustl.edu 37 11 64054482 64054482 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 64054482 64054482 G A SNP GPR137 ENST00000313074 human ensembl 74_37 +1 known missense c.403 p.G135S 1.000 NULL NULL - no_errors GPR137 HGNC ENSG00000173264 44 0 0 39 9 18.75 NRXN2 0 genome.wustl.edu 37 11 64418771 64418771 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 64418771 64418771 G T SNP NRXN2 ENST00000265459 human ensembl 74_37 -1 known missense c.2874 p.N958K 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 78 0 0 84 5 5.61798 NRXN2 0 genome.wustl.edu 37 11 64453315 64453315 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 64453315 64453315 G A SNP NRXN2 ENST00000265459 human ensembl 74_37 -1 known missense c.955 p.R319C 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 162 0 0 119 39 24.6835 AP5B1 0 genome.wustl.edu 37 11 65546326 65546326 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 65546326 65546326 C T SNP AP5B1 ENST00000532090 human ensembl 74_37 -1 novel silent c.1638 p.K546 0.002 NULL NULL - no_errors AP5B1 HGNC ENSG00000254470 39 0 0 29 11 27.5 DNHD1 0 genome.wustl.edu 37 11 6592577 6592577 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 6592577 6592577 C A SNP DNHD1 ENST00000254579 human ensembl 74_37 +1 known missense c.13835 p.P4612H 0.008 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 30 0 0 12 5 29.4118 YIF1A 0 genome.wustl.edu 37 11 66052202 66052202 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 66052202 66052202 A G SNP YIF1A ENST00000376901 human ensembl 74_37 -1 known missense c.788 p.V263A 0.007 pfam_Hrf1 pfam_Hrf1,pfam_Yip1 - no_errors YIF1A HGNC ENSG00000174851 43 0 0 31 14 31.1111 CD248 0 genome.wustl.edu 37 11 66083578 66083578 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 66083578 66083578 C T SNP CD248 ENST00000311330 human ensembl 74_37 -1 known silent c.921 p.P307 0.001 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_C-type_lectin,pfam_EGF-like_Ca-bd_dom,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_C-type_lectin - no_errors CD248 HGNC ENSG00000174807 72 0 0 47 10 17.5439 SLC29A2 0 genome.wustl.edu 37 11 66131805 66131805 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 66131805 66131805 A G SNP SLC29A2 ENST00000357440 human ensembl 74_37 -1 known missense c.1150 p.S384P 0.083 pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,tigrfam_Eqnu_transpt pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt - no_errors SLC29A2 HGNC ENSG00000174669 41 0 0 38 19 33.3333 NPAS4 0 genome.wustl.edu 37 11 66191809 66191809 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 66191809 66191809 G T SNP NPAS4 ENST00000311034 human ensembl 74_37 +1 known missense c.1448 p.S483I 0.997 NULL pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors NPAS4 HGNC ENSG00000174576 458 0 0 304 104 25.4902 ILK 0 genome.wustl.edu 37 11 6629531 6629531 + RNA SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 6629531 6629531 C T SNP ILK ENST00000528784 human ensembl 74_37 +1 known rna NULL NULL 0.047 - - - no_errors ILK HGNC ENSG00000166333 47 0 0 29 15 34.0909 KDM2A 0 genome.wustl.edu 37 11 67018168 67018168 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 67018168 67018168 C T SNP KDM2A ENST00000529006 human ensembl 74_37 +1 known silent c.2667 p.D889 1.000 NULL pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2A HGNC ENSG00000173120 108 0 0 75 34 31.1927 SSH3 0 genome.wustl.edu 37 11 67075058 67075058 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 67075058 67075058 C T SNP SSH3 ENST00000308127 human ensembl 74_37 +1 known missense c.641 p.A214V 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH3 HGNC ENSG00000172830 86 0 0 60 20 25 CORO1B 0 genome.wustl.edu 37 11 67208817 67208817 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 67208817 67208817 C T SNP CORO1B ENST00000341356 human ensembl 74_37 -1 known missense c.623 p.G208D 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO1B HGNC ENSG00000172725 157 0 0 125 49 28.1609 MYEOV 0 genome.wustl.edu 37 11 69063839 69063839 + Missense_Mutation SNP A A C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 69063839 69063839 A C SNP MYEOV ENST00000308946 human ensembl 74_37 +1 known missense c.922 p.I308L 0.000 NULL NULL - no_errors MYEOV HGNC ENSG00000172927 8 0 0 9 3 25 KRTAP5-7 0 genome.wustl.edu 37 11 71238828 71238828 + Missense_Mutation SNP G G C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 71238828 71238828 G C SNP KRTAP5-7 ENST00000398536 human ensembl 74_37 +1 known missense c.482 p.C161S 0.982 NULL NULL - no_errors KRTAP5-7 HGNC ENSG00000244411 323 0 0 198 85 30.0353 CLPB 0 genome.wustl.edu 37 11 72004429 72004429 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 72004429 72004429 C A SNP CLPB ENST00000294053 human ensembl 74_37 -1 known missense c.2106 p.K702N 1.000 NULL pfam_ATPase_AAA-2,pfam_Ankyrin_rpt,pfam_Clp_ATPase_C,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,pfam_Zeta_toxin_domain,pfam_Sigma_54_int,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_AAA+_ATPase,prints_ClpA/B,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CLPB HGNC ENSG00000162129 83 0 0 57 32 35.9551 ARHGEF17 0 genome.wustl.edu 37 11 73021308 73021308 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 73021308 73021308 G A SNP ARHGEF17 ENST00000263674 human ensembl 74_37 +1 known missense c.1625 p.R542Q 0.957 superfamily_Vinculin/catenin pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF17 HGNC ENSG00000110237 89 0 0 56 24 30 DGAT2 0 genome.wustl.edu 37 11 75480014 75480014 + RNA SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 75480014 75480014 C T SNP DGAT2 ENST00000605608 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors DGAT2 HGNC ENSG00000062282 15 0 0 12 6 33.3333 DGAT2 0 genome.wustl.edu 37 11 75511517 75511517 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 75511517 75511517 C T SNP DGAT2 ENST00000228027 human ensembl 74_37 +1 known silent c.1131 p.F377 0.398 pfam_DAGAT pfam_DAGAT - no_errors DGAT2 HGNC ENSG00000062282 45 0 0 24 12 33.3333 UVRAG 0 genome.wustl.edu 37 11 75852185 75852185 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 75852185 75852185 A G SNP UVRAG ENST00000356136 human ensembl 74_37 +1 known missense c.1828 p.S610G 0.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors UVRAG HGNC ENSG00000198382 73 0 0 76 22 22.449 B3GNT6 0 genome.wustl.edu 37 11 76751336 76751336 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 76751336 76751336 C T SNP B3GNT6 ENST00000533140 human ensembl 74_37 +1 known silent c.741 p.S247 0.086 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GNT6 HGNC ENSG00000198488 14 0 0 17 9 34.6154 FAT3 0 genome.wustl.edu 37 11 92087572 92087572 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 92087572 92087572 T C SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.2294 p.I765T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 147 0 0 85 41 32.5397 SLC36A4 0 genome.wustl.edu 37 11 92930964 92930964 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 92930964 92930964 G A SNP SLC36A4 ENST00000326402 human ensembl 74_37 -1 known missense c.35 p.A12V 0.006 NULL pfam_AA_transpt_TM - no_errors SLC36A4 HGNC ENSG00000180773 16 0 0 21 8 27.5862 MAML2 0 genome.wustl.edu 37 11 95724831 95724831 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 95724831 95724831 G A SNP MAML2 ENST00000524717 human ensembl 74_37 -1 known silent c.2196 p.C732 1.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC ENSG00000184384 75 0 0 80 19 19.1919 WEE1 0 genome.wustl.edu 37 11 9598763 9598763 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 9598763 9598763 C T SNP WEE1 ENST00000450114 human ensembl 74_37 +1 known missense c.1094 p.A365V 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,pirsf_Wee1-like_protein_kinase,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,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_dom - no_errors WEE1 HGNC ENSG00000166483 97 0 0 57 25 30.4878 ASCL1 0 genome.wustl.edu 37 12 103352643 103352643 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 103352643 103352643 G A SNP ASCL1 ENST00000266744 human ensembl 74_37 +1 known silent c.621 p.S207 0.992 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors ASCL1 HGNC ENSG00000139352 83 0 0 77 17 18.0851 EID3 0 genome.wustl.edu 37 12 104697811 104697811 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 104697811 104697811 C T SNP EID3 ENST00000527879 human ensembl 74_37 +1 known silent c.99 p.D33 0.119 NULL pfam_Nse4_C - no_errors EID3 HGNC ENSG00000255150 54 0 0 45 11 19.6429 TCP11L2 0 genome.wustl.edu 37 12 106729528 106729528 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 106729528 106729528 T C SNP TCP11L2 ENST00000299045 human ensembl 74_37 +1 known missense c.884 p.L295P 1.000 pfam_Tcp11 pfam_Tcp11 - no_errors TCP11L2 HGNC ENSG00000166046 93 0 0 48 21 30.4348 FICD 0 genome.wustl.edu 37 12 108912982 108912982 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 108912982 108912982 C T SNP FICD ENST00000552695 human ensembl 74_37 +1 known silent c.1107 p.N369 0.996 pfam_Fido,superfamily_Fido pfam_Fido,superfamily_Fido,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors FICD HGNC ENSG00000198855 153 0 0 119 29 19.5946 SART3 0 genome.wustl.edu 37 12 108919341 108919341 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 108919341 108919341 A G SNP SART3 ENST00000228284 human ensembl 74_37 -1 known missense c.2416 p.S806P 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom - no_errors SART3 HGNC ENSG00000075856 92 0 0 60 29 32.5843 SART3 0 genome.wustl.edu 37 12 108932768 108932768 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 108932768 108932768 C T SNP SART3 ENST00000228284 human ensembl 74_37 -1 known missense c.1004 p.R335H 1.000 smart_HAT pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom - no_errors SART3 HGNC ENSG00000075856 91 0 0 66 16 19.5122 USP30 0 genome.wustl.edu 37 12 109523603 109523603 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 109523603 109523603 T C SNP USP30 ENST00000257548 human ensembl 74_37 +1 known missense c.1421 p.L474P 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP30 HGNC ENSG00000135093 130 0 0 84 18 17.6471 PPTC7 0 genome.wustl.edu 37 12 110983821 110983821 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 110983821 110983821 G T SNP PPTC7 ENST00000354300 human ensembl 74_37 -1 known missense c.466 p.L156M 1.000 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPTC7 HGNC ENSG00000196850 82 0 0 61 19 23.75 ALDH2 0 genome.wustl.edu 37 12 112219773 112219773 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 112219773 112219773 A G SNP ALDH2 ENST00000261733 human ensembl 74_37 +1 known missense c.166 p.T56A 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH2 HGNC ENSG00000111275 95 0 0 55 13 19.1176 HECTD4 0 genome.wustl.edu 37 12 112638474 112638474 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 112638474 112638474 G A SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known silent c.8019 p.V2673 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 61 0 0 34 13 27.6596 OAS3 0 genome.wustl.edu 37 12 113403603 113403603 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 113403603 113403603 G A SNP OAS3 ENST00000228928 human ensembl 74_37 +1 known missense c.2458 p.V820M 0.977 pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS3 HGNC ENSG00000111331 46 0 0 41 7 14.5833 DTX1 0 genome.wustl.edu 37 12 113533182 113533182 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 113533182 113533182 G A SNP DTX1 ENST00000257600 human ensembl 74_37 +1 known missense c.1601 p.R534H 1.000 NULL pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX1 HGNC ENSG00000135144 114 0 0 88 39 30.7087 DDX54 0 genome.wustl.edu 37 12 113617008 113617008 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 113617008 113617008 G A SNP DDX54 ENST00000314045 human ensembl 74_37 -1 known silent c.504 p.R168 0.005 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DBP10CT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,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 DDX54 HGNC ENSG00000123064 49 0 0 38 12 24 PRB4 0 genome.wustl.edu 37 12 11461619 11461619 + Nonsense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 11461619 11461619 C A SNP PRB4 ENST00000279575 human ensembl 74_37 -1 known nonsense c.298 p.E100* 0.001 NULL NULL - no_errors PRB4 HGNC ENSG00000230657 630 0 0 572 64 10.0629 RNFT2 0 genome.wustl.edu 37 12 117290627 117290627 + RNA SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 117290627 117290627 C A SNP RNFT2 ENST00000551251 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RNFT2 HGNC ENSG00000135119 29 0 0 30 4 11.7647 NOS1 0 genome.wustl.edu 37 12 117768386 117768386 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 117768386 117768386 G A SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known silent c.489 p.Y163 0.000 pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 135 0 0 120 38 24.0506 KSR2 0 genome.wustl.edu 37 12 117962957 117962957 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 117962957 117962957 A G SNP KSR2 ENST00000339824 human ensembl 74_37 -1 known missense c.1919 p.L640P 1.000 superfamily_Kinase-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors KSR2 HGNC ENSG00000171435 62 0 0 55 19 25.6757 C12orf43 0 genome.wustl.edu 37 12 121448890 121448890 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 121448890 121448890 C T SNP C12orf43 ENST00000537817 human ensembl 74_37 -1 novel missense c.115 p.V39I 0.000 NULL NULL - no_errors C12orf43 HGNC ENSG00000157895 93 0 0 64 26 28.8889 P2RX4 0 genome.wustl.edu 37 12 121655008 121655008 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 121655008 121655008 A G SNP P2RX4 ENST00000337233 human ensembl 74_37 +1 known missense c.206 p.K69R 1.000 pfam_P2X_purnocptor,prints_P2X1_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X4_purnocptor,prints_P2X_purnocptor,prints_P2X1_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX4 HGNC ENSG00000135124 247 0 0 167 49 22.6852 KNTC1 0 genome.wustl.edu 37 12 123087723 123087723 + Silent SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 123087723 123087723 A G SNP KNTC1 ENST00000333479 human ensembl 74_37 +1 known silent c.5034 p.L1678 0.001 pfam_RZZ-complex_KNTC1/ROD_C pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 21 0 0 21 8 27.5862 HIP1R 0 genome.wustl.edu 37 12 123333368 123333368 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 123333368 123333368 G A SNP HIP1R ENST00000253083 human ensembl 74_37 +1 known missense c.326 p.R109H 1.000 pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N pfam_ANTH_dom,pfam_ILWEQ_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_ILWEQ_dom,pfscan_Epsin-like_N,pfscan_ILWEQ_dom - no_errors HIP1R HGNC ENSG00000130787 80 0 0 63 24 27.5862 PITPNM2 0 genome.wustl.edu 37 12 123472815 123472815 + Missense_Mutation SNP T T A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 123472815 123472815 T A SNP PITPNM2 ENST00000320201 human ensembl 74_37 -1 known missense c.2963 p.K988M 1.000 NULL pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM2 HGNC ENSG00000090975 194 0 0 181 56 23.6287 DNAH10 0 genome.wustl.edu 37 12 124325995 124325995 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 124325995 124325995 G A SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.4909 p.V1637M 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,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 152 0 0 104 40 27.7778 DNAH10 0 genome.wustl.edu 37 12 124419227 124419227 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 124419227 124419227 C A SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.13183 p.L4395I 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 42 0 0 27 14 34.1463 TMEM132D 0 genome.wustl.edu 37 12 130184667 130184667 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 130184667 130184667 G A SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known missense c.656 p.P219L 0.000 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 87 0 0 64 26 28.8889 MMP17 0 genome.wustl.edu 37 12 132325159 132325159 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 132325159 132325159 C T SNP MMP17 ENST00000360564 human ensembl 74_37 +1 known missense c.464 p.T155M 1.000 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_Metazoans pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP17 HGNC ENSG00000198598 169 0 0 142 31 17.9191 EP400 0 genome.wustl.edu 37 12 132508377 132508377 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 132508377 132508377 C T SNP EP400 ENST00000333577 human ensembl 74_37 +1 known silent c.4854 p.R1618 0.019 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 69 0 0 52 10 16.129 ANKLE2 0 genome.wustl.edu 37 12 133312082 133312082 + Missense_Mutation SNP T T G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 133312082 133312082 T G SNP ANKLE2 ENST00000357997 human ensembl 74_37 -1 known missense c.1610 p.K537T 0.150 NULL pfam_LEM_dom,superfamily_LEM/LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM_dom - no_errors ANKLE2 HGNC ENSG00000176915 150 0 0 90 31 25.6198 CACNA2D4 0 genome.wustl.edu 37 12 1904923 1904923 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 1904923 1904923 G A SNP CACNA2D4 ENST00000382722 human ensembl 74_37 -1 known missense c.3137 p.P1046L 0.876 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D4 HGNC ENSG00000151062 139 0 0 109 31 22.1429 SLCO1C1 0 genome.wustl.edu 37 12 20886040 20886040 + Splice_Site SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 20886040 20886040 T C SNP SLCO1C1 ENST00000381552 human ensembl 74_37 +1 known splice_site c.1382+2 e9+2 1.000 - - - no_errors SLCO1C1 HGNC ENSG00000139155 128 0 0 69 34 33.0097 BCAT1 0 genome.wustl.edu 37 12 25054761 25054761 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 25054761 25054761 A G SNP BCAT1 ENST00000261192 human ensembl 74_37 -1 known missense c.65 p.V22A 0.000 superfamily_Aminotrans_IV,pirsf_B_amino_transII pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII - no_errors BCAT1 HGNC ENSG00000060982 35 0 0 35 10 22.2222 PPFIBP1 0 genome.wustl.edu 37 12 27840346 27840346 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 27840346 27840346 G A SNP PPFIBP1 ENST00000318304 human ensembl 74_37 +1 known missense c.2294 p.S765N 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIBP1 HGNC ENSG00000110841 105 0 0 82 27 24.7706 ITFG2 0 genome.wustl.edu 37 12 2929298 2929298 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 2929298 2929298 G T SNP ITFG2 ENST00000537851 human ensembl 74_37 +1 known missense c.143 p.W48L 0.999 NULL NULL - no_errors ITFG2 HGNC ENSG00000111203 59 0 0 44 13 22.807 FOXM1 0 genome.wustl.edu 37 12 2983629 2983629 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 2983629 2983629 G A SNP FOXM1 ENST00000342628 human ensembl 74_37 -1 known missense c.16 p.R6C 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXM1 HGNC ENSG00000111206 178 0 0 120 56 31.8182 SLC6A12 0 genome.wustl.edu 37 12 310931 310931 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 310931 310931 C A SNP SLC6A12 ENST00000359674 human ensembl 74_37 -1 known missense c.575 p.W192L 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_betaine - no_errors SLC6A12 HGNC ENSG00000111181 107 0 0 54 13 19.403 C12orf5 0 genome.wustl.edu 37 12 4460518 4460518 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 4460518 4460518 C T SNP C12orf5 ENST00000179259 human ensembl 74_37 +1 known missense c.356 p.P119L 0.946 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1 - no_errors C12orf5 HGNC ENSG00000078237 70 0 0 52 20 27.7778 AKAP3 0 genome.wustl.edu 37 12 4737317 4737317 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 4737317 4737317 C T SNP AKAP3 ENST00000228850 human ensembl 74_37 -1 known missense c.751 p.G251R 0.764 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP3 HGNC ENSG00000111254 142 0 0 84 24 22.2222 TMEM106C 0 genome.wustl.edu 37 12 48359632 48359632 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 48359632 48359632 T C SNP TMEM106C ENST00000429772 human ensembl 74_37 +1 known missense c.263 p.V88A 1.000 pfam_DUF1356_TMEM106 pfam_DUF1356_TMEM106 - no_errors TMEM106C HGNC ENSG00000134291 691 0 0 397 184 31.6695 ZNF641 0 genome.wustl.edu 37 12 48736761 48736761 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 48736761 48736761 A G SNP ZNF641 ENST00000301042 human ensembl 74_37 -1 known missense c.1312 p.F438L 1.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF641 HGNC ENSG00000167528 79 0 0 65 18 21.6867 KMT2D 0 genome.wustl.edu 37 12 49434333 49434333 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 49434333 49434333 G T SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.7220 p.P2407H 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 42 0 0 28 18 39.1304 KMT2D 0 genome.wustl.edu 37 12 49441849 49441849 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 49441849 49441849 T C SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.4135 p.M1379V 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 67 0 0 68 5 6.84932 CERS5 0 genome.wustl.edu 37 12 50524461 50524461 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 50524461 50524461 C T SNP CERS5 ENST00000317551 human ensembl 74_37 -1 known missense c.1046 p.R349H 1.000 pirsf_Longevity_assurance_LAG1_LAC1 pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeobox_dom - no_errors CERS5 HGNC ENSG00000139624 134 0 0 84 26 23.6364 LARP4 0 genome.wustl.edu 37 12 50867242 50867242 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 50867242 50867242 G A SNP LARP4 ENST00000429001 human ensembl 74_37 +1 known silent c.1608 p.E536 0.574 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4 HGNC ENSG00000161813 67 0 0 37 13 26 NR4A1 0 genome.wustl.edu 37 12 52448164 52448164 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 52448164 52448164 C T SNP NR4A1 ENST00000545748 human ensembl 74_37 +1 known missense c.214 p.R72C 0.999 prints_Nuc_orp_HMR_rcpt 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_Nuc_orph_rcpt,prints_Nuc_orp_HMR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR4A1 HGNC ENSG00000123358 87 0 0 84 19 18.4466 KRT82 0 genome.wustl.edu 37 12 52799986 52799986 + Silent SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 52799986 52799986 G T SNP KRT82 ENST00000257974 human ensembl 74_37 -1 known silent c.76 p.R26 0.268 NULL pfam_IF,prints_Keratin_II,prints_Keratin_I - no_errors KRT82 HGNC ENSG00000161850 43 0 0 32 9 21.9512 KRT1 0 genome.wustl.edu 37 12 53071182 53071182 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 53071182 53071182 C T SNP KRT1 ENST00000252244 human ensembl 74_37 -1 known missense c.1046 p.S349N 0.998 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT1 HGNC ENSG00000167768 135 0 0 76 32 29.6296 KRT77 0 genome.wustl.edu 37 12 53086240 53086240 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 53086240 53086240 G A SNP KRT77 ENST00000341809 human ensembl 74_37 -1 known silent c.1392 p.A464 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT77 HGNC ENSG00000189182 128 0 0 93 30 24.3902 ENSG00000257700 0 genome.wustl.edu 37 12 53090244 53090244 + RNA SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 53090244 53090244 G A SNP ENSG00000257700 ENST00000547533 human ensembl 74_37 +1 known rna NULL NULL 0.010 - - - no_errors RP11-641A6.3 Clone_based_vega_gene ENSG00000257700 62 0 0 27 12 30.7692 KRT3 0 genome.wustl.edu 37 12 53189360 53189360 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 53189360 53189360 C T SNP KRT3 ENST00000309505 human ensembl 74_37 -1 known missense c.467 p.G156D 0.786 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT3 HGNC ENSG00000186442 22 0 0 25 5 16.6667 ZNF740 0 genome.wustl.edu 37 12 53578783 53578783 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 53578783 53578783 G A SNP ZNF740 ENST00000416904 human ensembl 74_37 +1 known missense c.118 p.E40K 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF740 HGNC ENSG00000139651 70 0 0 51 12 19.0476 NFE2 0 genome.wustl.edu 37 12 54686726 54686726 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 54686726 54686726 A G SNP NFE2 ENST00000312156 human ensembl 74_37 -1 known missense c.554 p.M185T 0.987 NULL pfam_bZIP,pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2 HGNC ENSG00000123405 171 0 0 97 36 27.0677 OR10P1 0 genome.wustl.edu 37 12 56031396 56031396 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 56031396 56031396 A G SNP OR10P1 ENST00000309675 human ensembl 74_37 +1 known missense c.721 p.T241A 0.997 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 OR10P1 HGNC ENSG00000175398 184 0 0 167 19 10.2151 SLC39A5 0 genome.wustl.edu 37 12 56630230 56630230 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 56630230 56630230 G A SNP SLC39A5 ENST00000266980 human ensembl 74_37 +1 known silent c.996 p.P332 0.139 pfam_ZIP pfam_ZIP - no_errors SLC39A5 HGNC ENSG00000139540 121 1 0.819672 93 28 23.1405 STAT2 0 genome.wustl.edu 37 12 56748213 56748213 + RNA SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 56748213 56748213 G A SNP STAT2 ENST00000557156 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors STAT2 HGNC ENSG00000170581 101 0 0 78 29 27.1028 MARS 0 genome.wustl.edu 37 12 57906610 57906610 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 57906610 57906610 G A SNP MARS ENST00000262027 human ensembl 74_37 +1 known silent c.1830 p.T610 0.193 pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Met-tRNA_synth pfam_Methionyl/Leucyl_tRNA_Synth,pfam_WHEP-TRS,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_S15_NS1_RNA-bd,superfamily_Thioredoxin-like_fold,pfscan_WHEP-TRS,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth - no_errors MARS HGNC ENSG00000166986 223 0 0 158 49 23.6715 SCNN1A 0 genome.wustl.edu 37 12 6465050 6465050 + RNA SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 6465050 6465050 A G SNP SCNN1A ENST00000536087 human ensembl 74_37 -1 putative rna NULL NULL 0.032 - - - no_errors SCNN1A HGNC ENSG00000111319 165 0 0 111 32 22.3776 WIF1 0 genome.wustl.edu 37 12 65456301 65456301 + Silent SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 65456301 65456301 A G SNP WIF1 ENST00000286574 human ensembl 74_37 -1 known silent c.786 p.C262 0.992 smart_EG-like_dom pfam_WIF,pfam_EGF_extracell,smart_WIF,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_WIF,prints_Wnt-inh - no_errors WIF1 HGNC ENSG00000156076 29 0 0 17 6 26.087 IRAK3 0 genome.wustl.edu 37 12 66641621 66641621 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 66641621 66641621 C A SNP IRAK3 ENST00000261233 human ensembl 74_37 +1 known missense c.1461 p.N487K 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Death_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom - no_errors IRAK3 HGNC ENSG00000090376 77 0 0 52 14 21.2121 HELB 0 genome.wustl.edu 37 12 66709022 66709022 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 66709022 66709022 G A SNP HELB ENST00000247815 human ensembl 74_37 +1 known missense c.1859 p.G620D 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors HELB HGNC ENSG00000127311 37 0 0 30 5 14.2857 RAP1B 0 genome.wustl.edu 37 12 69044187 69044187 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 69044187 69044187 A G SNP RAP1B ENST00000250559 human ensembl 74_37 +1 known missense c.65 p.Q22R 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAP1B HGNC ENSG00000127314 13 0 0 14 5 26.3158 CD4 0 genome.wustl.edu 37 12 6923959 6923959 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 6923959 6923959 G A SNP CD4 ENST00000011653 human ensembl 74_37 +1 known silent c.408 p.G136 0.014 pfam_Ig_C2-set,smart_Ig_sub,smart_Ig_sub2 pfam_CD4-extracel,pfam_Ig_C2-set,pfam_Tcell_CD4_Cterm,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,pfam_NK_rcpt_2B4_Ig_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Ag_CD4 - no_errors CD4 HGNC ENSG00000010610 190 0 0 120 47 28.1437 PTPRB 0 genome.wustl.edu 37 12 70928615 70928615 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 70928615 70928615 C T SNP PTPRB ENST00000334414 human ensembl 74_37 -1 known missense c.6202 p.G2068S 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 48 0 0 33 11 25 PTPRR 0 genome.wustl.edu 37 12 71078009 71078009 + Silent SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 71078009 71078009 C A SNP PTPRR ENST00000283228 human ensembl 74_37 -1 known silent c.1395 p.T465 0.000 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRR HGNC ENSG00000153233 62 0 0 38 18 32.1429 LGR5 0 genome.wustl.edu 37 12 71977666 71977666 + Nonsense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 71977666 71977666 C T SNP LGR5 ENST00000266674 human ensembl 74_37 +1 known nonsense c.1876 p.R626* 0.365 pfam_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam,pfscan_GPCR_Rhodpsn_7TM pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors LGR5 HGNC ENSG00000139292 112 0 0 72 29 28.7129 TRHDE 0 genome.wustl.edu 37 12 72863586 72863586 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 72863586 72863586 G A SNP TRHDE ENST00000261180 human ensembl 74_37 +1 known missense c.1229 p.G410E 1.000 pfam_Peptidase_M1_N,prints_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC ENSG00000072657 86 0 0 63 6 8.69565 CLSTN3 0 genome.wustl.edu 37 12 7295853 7295853 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 7295853 7295853 C T SNP CLSTN3 ENST00000266546 human ensembl 74_37 +1 known missense c.1793 p.T598I 1.000 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN3 HGNC ENSG00000139182 198 1 0.502513 148 52 26 PPFIA2 0 genome.wustl.edu 37 12 81768483 81768483 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 81768483 81768483 G A SNP PPFIA2 ENST00000549396 human ensembl 74_37 -1 known missense c.1196 p.T399I 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC ENSG00000139220 66 0 0 52 19 26.7606 CCDC59 0 genome.wustl.edu 37 12 82752457 82752457 + Splice_Site SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 82752457 82752457 C T SNP CCDC59 ENST00000548126 human ensembl 74_37 -1 known splice_site c.NULL NULL 1.000 - - - no_errors CCDC59 HGNC ENSG00000133773 131 0 0 102 29 22.1374 CCER1 0 genome.wustl.edu 37 12 91348379 91348379 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 91348379 91348379 C T SNP CCER1 ENST00000358859 human ensembl 74_37 -1 known silent c.141 p.A47 0.000 NULL NULL - no_errors CCER1 HGNC ENSG00000197651 32 0 0 32 6 15.7895 PLXNC1 0 genome.wustl.edu 37 12 94648658 94648658 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 94648658 94648658 C T SNP PLXNC1 ENST00000258526 human ensembl 74_37 +1 known missense c.2977 p.R993C 0.986 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNC1 HGNC ENSG00000136040 18 0 0 12 4 25 NTN4 0 genome.wustl.edu 37 12 96181193 96181193 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 96181193 96181193 G A SNP NTN4 ENST00000343702 human ensembl 74_37 -1 known missense c.109 p.R37W 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain - no_errors NTN4 HGNC ENSG00000074527 91 0 0 70 26 27.0833 TMTC4 0 genome.wustl.edu 37 13 101266646 101266646 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 13 101266646 101266646 C T SNP TMTC4 ENST00000342624 human ensembl 74_37 -1 known silent c.1875 p.A625 0.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_DUF1736,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC4 HGNC ENSG00000125247 133 0 0 98 23 19.0083 TMTC4 0 genome.wustl.edu 37 13 101289878 101289878 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 13 101289878 101289878 C T SNP TMTC4 ENST00000342624 human ensembl 74_37 -1 known missense c.913 p.V305M 0.002 NULL pfam_TPR_1,pfam_DUF1736,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC4 HGNC ENSG00000125247 147 1 0.675676 132 41 23.6994 TMTC4 0 genome.wustl.edu 37 13 101294559 101294559 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 13 101294559 101294559 T C SNP TMTC4 ENST00000342624 human ensembl 74_37 -1 known missense c.647 p.K216R 1.000 NULL pfam_TPR_1,pfam_DUF1736,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC4 HGNC ENSG00000125247 177 0 0 104 39 27.2727 IRS2 0 genome.wustl.edu 37 13 110434506 110434506 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 13 110434506 110434506 C T SNP IRS2 ENST00000375856 human ensembl 74_37 -1 known missense c.3895 p.V1299I 0.000 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS2 HGNC ENSG00000185950 16 0 0 14 4 22.2222 COL4A1 0 genome.wustl.edu 37 13 110850974 110850974 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 13 110850974 110850974 G A SNP COL4A1 ENST00000375820 human ensembl 74_37 -1 known silent c.1125 p.L375 0.003 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 81 0 0 62 25 28.7356 COL4A2 0 genome.wustl.edu 37 13 111160656 111160656 + RNA SNP A A T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 13 111160656 111160656 A T SNP COL4A2 ENST00000480609 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors COL4A2 HGNC ENSG00000134871 46 0 0 27 4 12.9032 ANKRD10 0 genome.wustl.edu 37 13 111545452 111545452 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 13 111545452 111545452 T C SNP ANKRD10 ENST00000267339 human ensembl 74_37 -1 known missense c.614 p.H205R 0.007 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD10 HGNC ENSG00000088448 134 0 0 87 25 22.3214 TMEM255B 0 genome.wustl.edu 37 13 114514861 114514861 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 13 114514861 114514861 C T SNP TMEM255B ENST00000375353 human ensembl 74_37 +1 known silent c.966 p.P322 0.993 NULL NULL - no_errors TMEM255B HGNC ENSG00000184497 167 0 0 131 34 20.6061 UPF3A 0 genome.wustl.edu 37 13 115047496 115047496 + Missense_Mutation SNP G G C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 13 115047496 115047496 G C SNP UPF3A ENST00000375299 human ensembl 74_37 +1 known missense c.208 p.V70L 1.000 pfam_Nonsense_mediated_decay_UPF3 pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3A HGNC ENSG00000169062 11 0 0 7 2 22.2222 GJA3 0 genome.wustl.edu 37 13 20716880 20716880 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 13 20716880 20716880 C T SNP GJA3 ENST00000241125 human ensembl 74_37 -1 known missense c.548 p.R183H 0.999 pfam_Connexin_CCC,prints_Connexin,prints_Connexin46 pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin46 - no_errors GJA3 HGNC ENSG00000121743 106 0 0 93 29 23.7705 GJB6 0 genome.wustl.edu 37 13 20797122 20797122 + Silent SNP C C G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 13 20797122 20797122 C G SNP GJB6 ENST00000241124 human ensembl 74_37 -1 known silent c.498 p.V166 0.723 pfam_Connexin_CCC pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJB6 HGNC ENSG00000121742 71 0 0 50 9 15.2542 IFT88 0 genome.wustl.edu 37 13 21157114 21157114 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 13 21157114 21157114 G T SNP IFT88 ENST00000319980 human ensembl 74_37 +1 known missense c.136 p.A46S 1.000 NULL pfam_TPR_1,pfam_TPR_2,pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat,smart_Sel1-like,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFT88 HGNC ENSG00000032742 98 0 0 43 14 24.5614 MIPEPP3 0 genome.wustl.edu 37 13 21875633 21875633 + RNA SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 13 21875633 21875633 C T SNP MIPEPP3 ENST00000424756 human ensembl 74_37 +1 known rna NULL NULL 0.978 - - - no_errors MIPEPP3 HGNC ENSG00000233325 37 0 0 27 10 27.027 AMER2 0 genome.wustl.edu 37 13 25745638 25745638 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 13 25745638 25745638 C T SNP AMER2 ENST00000515384 human ensembl 74_37 -1 known silent c.120 p.A40 0.865 NULL pfam_Uncharacterised_FAM123 - no_errors AMER2 HGNC ENSG00000165566 28 0 0 27 3 10 FRY 0 genome.wustl.edu 37 13 32691585 32691585 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 13 32691585 32691585 C A SNP FRY ENST00000380250 human ensembl 74_37 +1 known missense c.439 p.P147T 1.000 NULL superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 72 0 0 71 7 8.97436 KL 0 genome.wustl.edu 37 13 33635847 33635847 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 13 33635847 33635847 C T SNP KL ENST00000380099 human ensembl 74_37 +1 known silent c.2631 p.D877 0.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KL HGNC ENSG00000133116 157 0 0 107 39 26.7123 MAB21L1 0 genome.wustl.edu 37 13 36049602 36049602 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 13 36049602 36049602 G A SNP MAB21L1 ENST00000379919 human ensembl 74_37 -1 known missense c.674 p.A225V 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MAB21L1 HGNC ENSG00000180660 155 0 0 91 42 31.5789 DCLK1 0 genome.wustl.edu 37 13 36385083 36385083 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 13 36385083 36385083 C T SNP DCLK1 ENST00000360631 human ensembl 74_37 -1 known missense c.1577 p.S526N 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_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 DCLK1 HGNC ENSG00000133083 137 0 0 107 35 24.6479 SPG20 0 genome.wustl.edu 37 13 36878539 36878539 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 13 36878539 36878539 G A SNP SPG20 ENST00000355182 human ensembl 74_37 -1 known missense c.1964 p.T655M 0.000 NULL pfam_Senescence/spartin,pfam_MIT,smart_MIT - no_errors SPG20 HGNC ENSG00000133104 168 0 0 105 44 29.5302 SMAD9 0 genome.wustl.edu 37 13 37453416 37453416 + Silent SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 13 37453416 37453416 T C SNP SMAD9 ENST00000379826 human ensembl 74_37 -1 known silent c.411 p.P137 1.000 smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1 pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD9 HGNC ENSG00000120693 57 0 0 43 8 15.6863 STOML3 0 genome.wustl.edu 37 13 39541029 39541029 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 13 39541029 39541029 A G SNP STOML3 ENST00000379631 human ensembl 74_37 -1 known missense c.809 p.M270T 1.000 NULL pfam_Band_7,smart_Band_7,prints_Stomatin - no_errors STOML3 HGNC ENSG00000133115 104 0 0 79 33 29.4643 TSC22D1 0 genome.wustl.edu 37 13 45149330 45149330 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 13 45149330 45149330 C T SNP TSC22D1 ENST00000458659 human ensembl 74_37 -1 known missense c.881 p.R294H 0.125 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D1 HGNC ENSG00000102804 110 0 0 102 18 15 CPB2 0 genome.wustl.edu 37 13 46638789 46638789 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 13 46638789 46638789 A G SNP CPB2 ENST00000181383 human ensembl 74_37 -1 known missense c.790 p.W264R 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPB2 HGNC ENSG00000080618 65 0 0 47 11 18.9655 KCNRG 0 genome.wustl.edu 37 13 50589904 50589904 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 13 50589904 50589904 G A SNP KCNRG ENST00000312942 human ensembl 74_37 +1 known missense c.275 p.R92H 0.507 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCNRG HGNC ENSG00000198553 160 0 0 92 25 21.3675 ATP7B 0 genome.wustl.edu 37 13 52509016 52509016 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 13 52509016 52509016 A G SNP ATP7B ENST00000242839 human ensembl 74_37 -1 known missense c.4274 p.V1425A 0.814 NULL pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd - no_errors ATP7B HGNC ENSG00000123191 177 0 0 96 26 21.3115 CKAP2 0 genome.wustl.edu 37 13 53049197 53049197 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 13 53049197 53049197 T C SNP CKAP2 ENST00000378037 human ensembl 74_37 +1 known missense c.1973 p.L658S 1.000 NULL NULL - no_errors CKAP2 HGNC ENSG00000136108 150 0 0 86 28 24.5614 MYCBP2 0 genome.wustl.edu 37 13 77763121 77763121 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 13 77763121 77763121 T C SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known missense c.4216 p.I1406V 1.000 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 92 0 0 48 6 11.1111 MYCBP2 0 genome.wustl.edu 37 13 77779459 77779459 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 13 77779459 77779459 C T SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known missense c.3775 p.D1259N 1.000 pfam_PHR,superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 70 0 0 35 18 33.9623 PTMAP5 0 genome.wustl.edu 37 13 82265002 82265002 + RNA SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 13 82265002 82265002 T C SNP PTMAP5 ENST00000607242 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors PTMAP5 HGNC ENSG00000214182 60 0 0 63 7 10 GPC6 0 genome.wustl.edu 37 13 94482724 94482724 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 13 94482724 94482724 C T SNP GPC6 ENST00000377047 human ensembl 74_37 +1 known missense c.637 p.R213C 0.993 pfam_Glypican pfam_Glypican - no_errors GPC6 HGNC ENSG00000183098 66 0 0 54 15 21.7391 LINC00359 0 genome.wustl.edu 37 13 97600260 97600260 + RNA SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 13 97600260 97600260 C T SNP LINC00359 ENST00000442322 human ensembl 74_37 -1 known rna NULL NULL 0.990 - - - no_errors LINC00359 HGNC ENSG00000243300 19 0 0 19 5 20.8333 DOCK9 0 genome.wustl.edu 37 13 99554621 99554621 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 13 99554621 99554621 G A SNP DOCK9 ENST00000339416 human ensembl 74_37 -1 known missense c.1304 p.A435V 0.012 NULL 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 64 0 0 51 9 15 YY1 0 genome.wustl.edu 37 14 100728701 100728701 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 100728701 100728701 C T SNP YY1 ENST00000262238 human ensembl 74_37 +1 known missense c.740 p.S247L 1.000 pirsf_TF_Yin_yang pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2 - no_errors YY1 HGNC ENSG00000100811 99 0 0 56 21 27.2727 DYNC1H1 0 genome.wustl.edu 37 14 102506738 102506738 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 102506738 102506738 G T SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known missense c.11856 p.Q3952H 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 72 0 0 47 21 30.8824 MOK 0 genome.wustl.edu 37 14 102698915 102698915 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 102698915 102698915 C T SNP MOK ENST00000361847 human ensembl 74_37 -1 known missense c.823 p.A275T 0.288 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MOK HGNC ENSG00000080823 169 0 0 137 9 6.16438 TECPR2 0 genome.wustl.edu 37 14 102901155 102901155 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 102901155 102901155 C T SNP TECPR2 ENST00000359520 human ensembl 74_37 +1 known silent c.2001 p.T667 0.000 NULL pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_RCC1/BLIP-II,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR - no_errors TECPR2 HGNC ENSG00000196663 59 0 0 55 15 21.4286 CEP170B 0 genome.wustl.edu 37 14 105356064 105356064 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 105356064 105356064 G A SNP CEP170B ENST00000453495 human ensembl 74_37 +1 known missense c.3955 p.V1319M 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170B HGNC ENSG00000099814 87 0 0 60 21 25.9259 PACS2 0 genome.wustl.edu 37 14 105843116 105843116 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 105843116 105843116 G A SNP PACS2 ENST00000458164 human ensembl 74_37 +1 known silent c.813 p.S271 0.130 NULL pfam_Phosphofurin_acidic_CS-1 - no_errors PACS2 HGNC ENSG00000179364 55 0 0 51 13 20.3125 OR4K13 0 genome.wustl.edu 37 14 20502155 20502155 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 20502155 20502155 C A SNP OR4K13 ENST00000315693 human ensembl 74_37 -1 known missense c.763 p.V255F 0.015 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K13 HGNC ENSG00000176253 66 0 0 41 9 18 OR4L1 0 genome.wustl.edu 37 14 20528376 20528376 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 20528376 20528376 C T SNP OR4L1 ENST00000315683 human ensembl 74_37 +1 known missense c.173 p.P58L 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR4L1 HGNC ENSG00000176246 185 0 0 123 32 20.6452 TEP1 0 genome.wustl.edu 37 14 20854232 20854232 + Splice_Site SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 20854232 20854232 A G SNP TEP1 ENST00000262715 human ensembl 74_37 -1 known splice_site c.2982+2 e19+2 1.000 - - - no_errors TEP1 HGNC ENSG00000129566 241 0 0 177 56 24.0343 RNASE9 0 genome.wustl.edu 37 14 21025061 21025061 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 21025061 21025061 G A SNP RNASE9 ENST00000338904 human ensembl 74_37 -1 known silent c.168 p.P56 0.007 NULL pfam_RNaseA_domain,superfamily_RNaseA_domain - no_errors RNASE9 HGNC ENSG00000188655 102 0 0 78 30 27.7778 SUPT16H 0 genome.wustl.edu 37 14 21831283 21831283 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 21831283 21831283 C T SNP SUPT16H ENST00000216297 human ensembl 74_37 -1 known missense c.1421 p.R474Q 1.000 NULL pfam_FACT_Spt16p,pfam_Pept_M24_structural-domain,pfam_DUF1747,superfamily_Pept_M24_structural-domain - no_errors SUPT16H HGNC ENSG00000092201 109 0 0 59 21 26.25 MMP14 0 genome.wustl.edu 37 14 23313028 23313028 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 23313028 23313028 C T SNP MMP14 ENST00000311852 human ensembl 74_37 +1 known silent c.960 p.D320 0.571 pirsf_Pept_M10A_Metazoans,superfamily_Hemopexin-like_dom pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP14 HGNC ENSG00000157227 190 0 0 131 40 23.3918 MYH6 0 genome.wustl.edu 37 14 23858108 23858108 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 23858108 23858108 T C SNP MYH6 ENST00000356287 human ensembl 74_37 -1 known missense c.4135 p.T1379A 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 143 0 0 102 37 26.6187 MYH7 0 genome.wustl.edu 37 14 23885003 23885003 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 23885003 23885003 G A SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known silent c.4992 p.N1664 0.975 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 106 0 0 70 16 18.6047 DHRS2 0 genome.wustl.edu 37 14 24113765 24113765 + Splice_Site SNP T T G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 24113765 24113765 T G SNP DHRS2 ENST00000344777 human ensembl 74_37 +1 known splice_site c.686+2 e6+2 0.000 - - - no_errors DHRS2 HGNC ENSG00000100867 109 0 0 62 19 23.4568 IPO4 0 genome.wustl.edu 37 14 24656883 24656883 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 24656883 24656883 G A SNP IPO4 ENST00000354464 human ensembl 74_37 -1 known missense c.398 p.P133L 0.007 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_HEAT_type_2,pfscan_Importin-beta_N - no_errors IPO4 HGNC ENSG00000196497 162 0 0 100 35 25.9259 NFATC4 0 genome.wustl.edu 37 14 24841792 24841792 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 24841792 24841792 G A SNP NFATC4 ENST00000413692 human ensembl 74_37 +1 known missense c.1531 p.G511S 1.000 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD,prints_NFAT pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC4 HGNC ENSG00000100968 56 0 0 52 22 29.7297 LOC100506071 0 genome.wustl.edu 37 14 31354865 31354865 + RNA SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 31354865 31354865 T C SNP LOC100506071 ENST00000555108 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-829H16.3 Clone_based_vega_gene ENSG00000258525 49 0 0 30 8 21.0526 KIAA0391 0 genome.wustl.edu 37 14 35739687 35739687 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 35739687 35739687 G A SNP KIAA0391 ENST00000534898 human ensembl 74_37 +1 known missense c.1505 p.R502Q 1.000 NULL NULL - no_errors KIAA0391 HGNC ENSG00000100890 132 0 0 94 25 21.0084 INSM2 0 genome.wustl.edu 37 14 36004595 36004595 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 36004595 36004595 G A SNP INSM2 ENST00000307169 human ensembl 74_37 +1 known silent c.1137 p.P379 0.673 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors INSM2 HGNC ENSG00000168348 71 0 0 57 16 21.9178 NKX2-1 0 genome.wustl.edu 37 14 36987001 36987001 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 36987001 36987001 G T SNP NKX2-1 ENST00000354822 human ensembl 74_37 -1 known missense c.688 p.L230M 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-1 HGNC ENSG00000136352 31 0 0 22 7 24.1379 LRFN5 0 genome.wustl.edu 37 14 42356100 42356100 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 42356100 42356100 C T SNP LRFN5 ENST00000298119 human ensembl 74_37 +1 known missense c.272 p.T91I 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN5 HGNC ENSG00000165379 64 0 0 35 18 33.9623 FAM179B 0 genome.wustl.edu 37 14 45537805 45537805 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 45537805 45537805 C T SNP FAM179B ENST00000361577 human ensembl 74_37 +1 known missense c.4769 p.A1590V 0.997 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FAM179B HGNC ENSG00000198718 70 0 0 61 14 18.6667 MIS18BP1 0 genome.wustl.edu 37 14 45711564 45711564 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 45711564 45711564 G A SNP MIS18BP1 ENST00000310806 human ensembl 74_37 -1 known silent c.816 p.S272 0.000 NULL pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MIS18BP1 HGNC ENSG00000129534 117 0 0 66 14 17.5 SOS2 0 genome.wustl.edu 37 14 50667726 50667726 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 50667726 50667726 C T SNP SOS2 ENST00000216373 human ensembl 74_37 -1 known missense c.290 p.R97Q 1.000 pfam_Histone_core_D,superfamily_Histone-fold 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 159 0 0 93 34 26.7717 TXNDC16 0 genome.wustl.edu 37 14 53003450 53003450 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 53003450 53003450 C T SNP TXNDC16 ENST00000281741 human ensembl 74_37 -1 known missense c.379 p.A127T 0.971 superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC16 HGNC ENSG00000087301 35 0 0 22 6 21.4286 ATG14 0 genome.wustl.edu 37 14 55848903 55848903 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 55848903 55848903 G A SNP ATG14 ENST00000247178 human ensembl 74_37 -1 known silent c.654 p.P218 0.431 pfam_UV_resistance/autophagy_Atg14 pfam_UV_resistance/autophagy_Atg14 - no_errors ATG14 HGNC ENSG00000126775 92 0 0 68 24 26.087 TBPL2 0 genome.wustl.edu 37 14 55903468 55903468 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 55903468 55903468 T C SNP TBPL2 ENST00000247219 human ensembl 74_37 -1 known missense c.419 p.Q140R 0.014 NULL pfam_TBP,prints_TBP - no_errors TBPL2 HGNC ENSG00000182521 135 0 0 76 22 22.449 JKAMP 0 genome.wustl.edu 37 14 59954414 59954414 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 59954414 59954414 C T SNP JKAMP ENST00000356057 human ensembl 74_37 +1 known missense c.143 p.T48M 1.000 pfam_DUF766 pfam_DUF766 - no_errors JKAMP HGNC ENSG00000050130 162 0 0 115 8 6.50407 TMEM30B 0 genome.wustl.edu 37 14 61747063 61747063 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 61747063 61747063 C T SNP TMEM30B ENST00000355702 human ensembl 74_37 -1 known missense c.803 p.R268H 1.000 pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk - no_errors TMEM30B HGNC ENSG00000182107 81 0 0 44 25 36.2319 PLEKHG3 0 genome.wustl.edu 37 14 65197879 65197879 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 65197879 65197879 C T SNP PLEKHG3 ENST00000394691 human ensembl 74_37 +1 known missense c.841 p.R281W 1.000 superfamily_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG3 HGNC ENSG00000126822 71 0 0 51 18 26.087 SPTB 0 genome.wustl.edu 37 14 65237609 65237609 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 65237609 65237609 C A SNP SPTB ENST00000389722 human ensembl 74_37 -1 known missense c.5792 p.R1931M 0.995 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,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 SPTB HGNC ENSG00000070182 103 0 0 90 29 24.3697 MPP5 0 genome.wustl.edu 37 14 67759378 67759378 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 67759378 67759378 T C SNP MPP5 ENST00000261681 human ensembl 74_37 +1 known missense c.518 p.M173T 1.000 smart_L27,pfscan_L27 pfam_GK/Ca_channel_bsu,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP5 HGNC ENSG00000072415 97 0 0 54 9 14.2857 ZFYVE26 0 genome.wustl.edu 37 14 68244276 68244276 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 68244276 68244276 C A SNP ZFYVE26 ENST00000347230 human ensembl 74_37 -1 known missense c.4974 p.K1658N 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ENSG00000072121 106 0 0 66 34 34 ACTN1 0 genome.wustl.edu 37 14 69341673 69341673 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 69341673 69341673 A G SNP ACTN1 ENST00000394419 human ensembl 74_37 -1 known missense c.2648 p.I883T 1.000 pfam_EF-hand_Ca_insen pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN1 HGNC ENSG00000072110 71 0 0 48 23 32.3944 ACTN1 0 genome.wustl.edu 37 14 69392358 69392358 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 69392358 69392358 C T SNP ACTN1 ENST00000394419 human ensembl 74_37 -1 known missense c.137 p.R46Q 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN1 HGNC ENSG00000072110 78 0 0 70 25 26.3158 ADAM21 0 genome.wustl.edu 37 14 70924556 70924556 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 70924556 70924556 T C SNP ADAM21 ENST00000267499 human ensembl 74_37 +1 known missense c.340 p.Y114H 0.756 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM21 HGNC ENSG00000139985 208 0 0 155 32 17.1123 PCNX 0 genome.wustl.edu 37 14 71445168 71445168 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 71445168 71445168 A G SNP PCNX ENST00000304743 human ensembl 74_37 +1 known missense c.2114 p.N705S 0.068 NULL pfam_Pecanex - no_errors PCNX HGNC ENSG00000100731 155 0 0 80 35 30.4348 PCNX 0 genome.wustl.edu 37 14 71570248 71570248 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 71570248 71570248 A G SNP PCNX ENST00000304743 human ensembl 74_37 +1 known missense c.5957 p.D1986G 1.000 pfam_Pecanex pfam_Pecanex - no_errors PCNX HGNC ENSG00000100731 118 0 0 93 8 7.92079 PAPLN 0 genome.wustl.edu 37 14 73718750 73718750 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 73718750 73718750 G A SNP PAPLN ENST00000427855 human ensembl 74_37 +1 known missense c.868 p.G290S 1.000 pfam_ADAM_spacer1 pfam_Ig_I-set,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_inh_Kunz-m,pfam_PLAC,superfamily_Prot_inh_Kunz-m,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Prot_inh_Kunz-m,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS,prints_Prot_inh_Kunz-m - no_errors PAPLN HGNC ENSG00000100767 62 0 0 32 16 33.3333 ACOT2 0 genome.wustl.edu 37 14 74036200 74036200 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 74036200 74036200 C T SNP ACOT2 ENST00000238651 human ensembl 74_37 +1 known missense c.256 p.R86C 0.899 pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain - no_errors ACOT2 HGNC ENSG00000119673 50 0 0 51 18 26.087 ALDH6A1 0 genome.wustl.edu 37 14 74538180 74538180 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 74538180 74538180 T C SNP ALDH6A1 ENST00000553458 human ensembl 74_37 -1 known missense c.448 p.S150G 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_MeMal-semiAld_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_MeMal-semiAld_DH - no_errors ALDH6A1 HGNC ENSG00000119711 100 0 0 58 28 32.5581 PROX2 0 genome.wustl.edu 37 14 75329594 75329594 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 75329594 75329594 G T SNP PROX2 ENST00000445876 human ensembl 74_37 -1 known missense c.944 p.P315H 0.003 NULL pfam_Homeo_prospero_dom,superfamily_Homeodomain-like - no_errors PROX2 HGNC ENSG00000119608 146 0 0 105 32 23.3577 RPS6KL1 0 genome.wustl.edu 37 14 75388058 75388058 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 75388058 75388058 G A SNP RPS6KL1 ENST00000358328 human ensembl 74_37 -1 known missense c.187 p.R63C 0.996 pfam_MIT,smart_MIT pfam_Prot_kinase_dom,pfam_MIT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors RPS6KL1 HGNC ENSG00000198208 146 0 0 96 35 26.7176 ANGEL1 0 genome.wustl.edu 37 14 77269819 77269819 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 77269819 77269819 G A SNP ANGEL1 ENST00000251089 human ensembl 74_37 -1 known missense c.1513 p.R505C 0.998 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors ANGEL1 HGNC ENSG00000013523 96 0 0 73 13 15.1163 IRF2BPL 0 genome.wustl.edu 37 14 77492633 77492633 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 77492633 77492633 G A SNP IRF2BPL ENST00000238647 human ensembl 74_37 -1 known silent c.1503 p.D501 0.993 pfam_Interferon_reg_fac2-bd1_2_Znf pfam_Interferon_reg_fac2-bd1_2_Znf - no_errors IRF2BPL HGNC ENSG00000119669 10 0 0 6 5 45.4545 POMT2 0 genome.wustl.edu 37 14 77767578 77767578 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 77767578 77767578 G A SNP POMT2 ENST00000261534 human ensembl 74_37 -1 known missense c.671 p.P224L 0.993 pfam_Glyco_trans_39 pfam_Glyco_trans_39,pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif - no_errors POMT2 HGNC ENSG00000009830 96 0 0 69 22 24.1758 SAMD15 0 genome.wustl.edu 37 14 77857510 77857510 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 77857510 77857510 G T SNP SAMD15 ENST00000216471 human ensembl 74_37 +1 known missense c.1948 p.A650S 0.003 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD15 HGNC ENSG00000100583 67 0 0 39 19 32.7586 NOXRED1 0 genome.wustl.edu 37 14 77889208 77889208 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 77889208 77889208 A G SNP NOXRED1 ENST00000380835 human ensembl 74_37 -1 known missense c.25 p.S9P 0.526 NULL NULL - no_errors NOXRED1 HGNC ENSG00000165555 221 0 0 152 43 22.0513 NRXN3 0 genome.wustl.edu 37 14 79175609 79175609 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 79175609 79175609 G A SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known missense c.1265 p.R422Q 0.991 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 117 0 0 67 20 22.9885 NRXN3 0 genome.wustl.edu 37 14 79433724 79433724 + Missense_Mutation SNP A A C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 79433724 79433724 A C SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known missense c.2918 p.K973T 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 42 0 0 25 15 37.5 FLRT2 0 genome.wustl.edu 37 14 86088243 86088243 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 86088243 86088243 C T SNP FLRT2 ENST00000330753 human ensembl 74_37 +1 known missense c.385 p.L129F 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 119 0 0 78 5 6.0241 FLRT2 0 genome.wustl.edu 37 14 86088495 86088495 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 86088495 86088495 G A SNP FLRT2 ENST00000330753 human ensembl 74_37 +1 known missense c.637 p.G213R 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 134 0 0 98 28 22.2222 TTC8 0 genome.wustl.edu 37 14 89319400 89319400 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 89319400 89319400 G T SNP TTC8 ENST00000338104 human ensembl 74_37 +1 known missense c.758 p.R253M 1.000 smart_TPR_repeat pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC8 HGNC ENSG00000165533 40 0 0 28 13 31.7073 CCDC88C 0 genome.wustl.edu 37 14 91805636 91805636 + Silent SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 91805636 91805636 G T SNP CCDC88C ENST00000389857 human ensembl 74_37 -1 known silent c.795 p.R265 0.659 pfam_Hook-related_fam,superfamily_Prefoldin pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C - no_errors CCDC88C HGNC ENSG00000015133 30 0 0 26 4 13.3333 CATSPERB 0 genome.wustl.edu 37 14 92140520 92140520 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 92140520 92140520 C A SNP CATSPERB ENST00000256343 human ensembl 74_37 -1 known missense c.978 p.E326D 1.000 NULL superfamily_Sialidases - no_errors CATSPERB HGNC ENSG00000133962 39 0 0 38 7 15.5556 SLC24A4 0 genome.wustl.edu 37 14 92922911 92922911 + Missense_Mutation SNP A A T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 92922911 92922911 A T SNP SLC24A4 ENST00000532405 human ensembl 74_37 +1 known missense c.1214 p.E405V 0.115 tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A4 HGNC ENSG00000140090 60 0 0 56 18 24.3243 SYNE3 0 genome.wustl.edu 37 14 95899742 95899742 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 95899742 95899742 A G SNP SYNE3 ENST00000334258 human ensembl 74_37 -1 known missense c.2543 p.L848P 1.000 NULL pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH - no_errors SYNE3 HGNC ENSG00000176438 118 0 0 70 30 30 BDKRB1 0 genome.wustl.edu 37 14 96730667 96730667 + Silent SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 96730667 96730667 T C SNP BDKRB1 ENST00000216629 human ensembl 74_37 +1 known silent c.648 p.A216 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Brdyknn_1_rcpt,prints_GPCR_Rhodpsn,prints_Brdyknn_rcpt - no_errors BDKRB1 HGNC ENSG00000100739 120 0 0 85 23 21.2963 ASB7 0 genome.wustl.edu 37 15 101152540 101152540 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 101152540 101152540 C T SNP ASB7 ENST00000332783 human ensembl 74_37 +1 known missense c.119 p.P40L 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB7 HGNC ENSG00000183475 126 0 0 83 33 28.4483 CHEK2P2 0 genome.wustl.edu 37 15 20496710 20496710 + RNA SNP A A C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 20496710 20496710 A C SNP CHEK2P2 ENST00000555186 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors CHEK2P2 HGNC ENSG00000259156 68 0 0 61 7 10.2941 HERC2P3 0 genome.wustl.edu 37 15 20644320 20644320 + RNA SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 20644320 20644320 T C SNP HERC2P3 ENST00000426501 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HERC2P3 HGNC ENSG00000180229 67 0 0 65 11 14.4737 NDN 0 genome.wustl.edu 37 15 23931878 23931878 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 23931878 23931878 T C SNP NDN ENST00000331837 human ensembl 74_37 -1 known missense c.487 p.M163V 0.937 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors NDN HGNC ENSG00000182636 56 0 0 43 22 33.8462 SNHG14 0 genome.wustl.edu 37 15 25438424 25438424 + RNA SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 25438424 25438424 G A SNP SNHG14 ENST00000414175 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SNHG14 HGNC ENSG00000224078 200 0 0 149 59 28.3654 ATP10A 0 genome.wustl.edu 37 15 25940151 25940151 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 25940151 25940151 C T SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known missense c.2903 p.R968H 0.987 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10A HGNC ENSG00000206190 141 0 0 87 37 29.8387 HERC2 0 genome.wustl.edu 37 15 28361831 28361831 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 28361831 28361831 C T SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.13589 p.S4530N 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 143 0 0 100 31 23.6641 CHRFAM7A 0 genome.wustl.edu 37 15 30654961 30654961 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 30654961 30654961 G A SNP CHRFAM7A ENST00000299847 human ensembl 74_37 -1 known silent c.774 p.P258 0.202 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel - no_errors CHRFAM7A HGNC ENSG00000166664 22 0 0 13 4 23.5294 TRPM1 0 genome.wustl.edu 37 15 31323186 31323186 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 31323186 31323186 G A SNP TRPM1 ENST00000542188 human ensembl 74_37 -1 known missense c.3178 p.L1060F 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 132 0 0 79 29 26.8519 TRPM1 0 genome.wustl.edu 37 15 31355374 31355374 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 31355374 31355374 G A SNP TRPM1 ENST00000542188 human ensembl 74_37 -1 known silent c.963 p.S321 0.134 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 83 0 0 65 17 20.7317 OTUD7A 0 genome.wustl.edu 37 15 31776544 31776544 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 31776544 31776544 C T SNP OTUD7A ENST00000382902 human ensembl 74_37 -1 known silent c.1755 p.S585 0.847 NULL pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7A HGNC ENSG00000169918 29 0 0 25 13 34.2105 OTUD7A 0 genome.wustl.edu 37 15 31822996 31822996 + Nonsense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 31822996 31822996 C T SNP OTUD7A ENST00000382902 human ensembl 74_37 -1 known nonsense c.566 p.W189* 1.000 NULL pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7A HGNC ENSG00000169918 72 0 0 53 20 27.3973 CHRNA7 0 genome.wustl.edu 37 15 32460210 32460210 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 32460210 32460210 C T SNP CHRNA7 ENST00000454250 human ensembl 74_37 +1 known missense c.1147 p.R383C 0.999 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA7 HGNC ENSG00000175344 72 0 0 70 11 13.5802 FMN1 0 genome.wustl.edu 37 15 33192195 33192195 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 33192195 33192195 C A SNP FMN1 ENST00000334528 human ensembl 74_37 -1 known missense c.2970 p.K990N 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,smart_FH2_Formin,prints_Formin_Cappuccino_subfam - no_errors FMN1 HGNC ENSG00000248905 260 0 0 187 19 9.2233 RYR3 0 genome.wustl.edu 37 15 34072425 34072425 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 34072425 34072425 C T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.9151 p.L3051F 1.000 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 57 0 0 49 13 20.9677 SLC12A6 0 genome.wustl.edu 37 15 34532905 34532905 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 34532905 34532905 C T SNP SLC12A6 ENST00000558589 human ensembl 74_37 -1 known missense c.2366 p.G789E 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A6 HGNC ENSG00000140199 88 0 0 69 18 20.6897 SPRED1 0 genome.wustl.edu 37 15 38641697 38641697 + Missense_Mutation SNP A A C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 38641697 38641697 A C SNP SPRED1 ENST00000299084 human ensembl 74_37 +1 known missense c.657 p.E219D 0.982 NULL pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors SPRED1 HGNC ENSG00000166068 47 0 0 48 5 9.43396 SPRED1 0 genome.wustl.edu 37 15 38643475 38643475 + Silent SNP T T G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 38643475 38643475 T G SNP SPRED1 ENST00000299084 human ensembl 74_37 +1 known silent c.945 p.P315 0.893 NULL pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors SPRED1 HGNC ENSG00000166068 92 0 0 46 18 28.125 C15orf53 0 genome.wustl.edu 37 15 38990598 38990598 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 38990598 38990598 G A SNP C15orf53 ENST00000318792 human ensembl 74_37 +1 known missense c.392 p.R131H 0.000 NULL NULL - no_errors C15orf53 HGNC ENSG00000175779 71 0 0 53 11 17.1875 THBS1 0 genome.wustl.edu 37 15 39874832 39874832 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 39874832 39874832 T C SNP THBS1 ENST00000260356 human ensembl 74_37 +1 known missense c.506 p.I169T 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS1 HGNC ENSG00000137801 72 0 0 54 24 30.7692 DISP2 0 genome.wustl.edu 37 15 40656425 40656425 + Splice_Site SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 40656425 40656425 A G SNP DISP2 ENST00000267889 human ensembl 74_37 +1 known splice_site c.450-2 e3-2 0.972 - - - no_errors DISP2 HGNC ENSG00000140323 163 0 0 141 34 19.4286 CASC5 0 genome.wustl.edu 37 15 40916700 40916700 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 40916700 40916700 T C SNP CASC5 ENST00000346991 human ensembl 74_37 +1 known missense c.4316 p.M1439T 0.008 NULL NULL - no_errors CASC5 HGNC ENSG00000137812 112 0 0 66 29 30.5263 VPS18 0 genome.wustl.edu 37 15 41191917 41191917 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 41191917 41191917 C T SNP VPS18 ENST00000220509 human ensembl 74_37 +1 known missense c.901 p.R301C 1.000 pfam_Pep3_Vps18 pfam_Pep3_Vps18,pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold - no_errors VPS18 HGNC ENSG00000104142 133 0 0 89 36 28.8 NUSAP1 0 genome.wustl.edu 37 15 41650412 41650412 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 41650412 41650412 A G SNP NUSAP1 ENST00000559596 human ensembl 74_37 +1 known missense c.616 p.K206E 1.000 NULL NULL - no_errors NUSAP1 HGNC ENSG00000137804 20 0 0 22 7 24.1379 MAPKBP1 0 genome.wustl.edu 37 15 42109622 42109622 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 42109622 42109622 C T SNP MAPKBP1 ENST00000456763 human ensembl 74_37 +1 known missense c.1766 p.A589V 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MAPKBP1 HGNC ENSG00000137802 92 0 0 72 30 29.4118 JMJD7-PLA2G4B 0 genome.wustl.edu 37 15 42139713 42139713 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 42139713 42139713 C T SNP JMJD7-PLA2G4B ENST00000382448 human ensembl 74_37 +1 known missense c.2819 p.S940L 0.693 superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_JmjC_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_JmjC_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors JMJD7-PLA2G4B HGNC ENSG00000168970 146 0 0 95 27 22.1311 ENSG00000257797 0 genome.wustl.edu 37 15 42302266 42302266 + RNA SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 42302266 42302266 G T SNP ENSG00000257797 ENST00000552704 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2382E5.2 Clone_based_vega_gene ENSG00000257797 52 0 0 34 19 35.8491 GANC 0 genome.wustl.edu 37 15 42641671 42641671 + Missense_Mutation SNP T T G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 42641671 42641671 T G SNP GANC ENST00000318010 human ensembl 74_37 +1 known missense c.2509 p.C837G 0.134 NULL pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom - no_errors GANC HGNC ENSG00000214013 132 0 0 81 34 29.5652 TMEM62 0 genome.wustl.edu 37 15 43470863 43470863 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 43470863 43470863 C A SNP TMEM62 ENST00000260403 human ensembl 74_37 +1 known missense c.1440 p.N480K 0.650 NULL superfamily_Cadherin-like - no_errors TMEM62 HGNC ENSG00000137842 26 0 0 18 3 14.2857 B2M 0 genome.wustl.edu 37 15 45007619 45007619 + Splice_Site SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 45007619 45007619 A G SNP B2M ENST00000544417 human ensembl 74_37 +1 known splice_site c.68-2 e2-2 0.989 - - - no_errors B2M HGNC ENSG00000166710 137 0 0 91 22 19.469 DUOX2 0 genome.wustl.edu 37 15 45398489 45398489 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 45398489 45398489 G A SNP DUOX2 ENST00000389039 human ensembl 74_37 -1 known missense c.1982 p.P661L 0.394 NULL pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin - no_errors DUOX2 HGNC ENSG00000140279 76 0 0 47 17 26.5625 DUOX2 0 genome.wustl.edu 37 15 45399570 45399570 + Nonsense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 45399570 45399570 G A SNP DUOX2 ENST00000389039 human ensembl 74_37 -1 known nonsense c.1666 p.Q556* 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin - no_errors DUOX2 HGNC ENSG00000140279 168 0 0 112 49 30.4348 SEMA6D 0 genome.wustl.edu 37 15 48057167 48057167 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 48057167 48057167 G A SNP SEMA6D ENST00000316364 human ensembl 74_37 +1 known missense c.1341 p.M447I 0.849 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6D HGNC ENSG00000137872 77 0 0 65 23 26.1364 FBN1 0 genome.wustl.edu 37 15 48936954 48936954 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 48936954 48936954 G A SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.13 p.R5C 0.999 pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 93 0 0 58 24 29.2683 SECISBP2L 0 genome.wustl.edu 37 15 49303986 49303986 + Silent SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 49303986 49303986 T C SNP SECISBP2L ENST00000559471 human ensembl 74_37 -1 known silent c.1806 p.P602 0.722 NULL pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors SECISBP2L HGNC ENSG00000138593 78 0 0 47 20 29.8507 MYO5C 0 genome.wustl.edu 37 15 52487639 52487639 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 52487639 52487639 T C SNP MYO5C ENST00000261839 human ensembl 74_37 -1 known missense c.5011 p.N1671D 1.000 pfam_Dil_domain,pfscan_Dilute pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5C HGNC ENSG00000128833 39 0 0 32 3 8.57143 FAM63B 0 genome.wustl.edu 37 15 59144134 59144134 + Silent SNP T T A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 59144134 59144134 T A SNP FAM63B ENST00000559228 human ensembl 74_37 +1 known silent c.1707 p.A569 0.000 NULL pfam_DUF544 - no_errors FAM63B HGNC ENSG00000128923 115 1 0.862069 76 26 25.4902 SLTM 0 genome.wustl.edu 37 15 59186117 59186117 + Silent SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 59186117 59186117 A G SNP SLTM ENST00000380516 human ensembl 74_37 -1 known silent c.1551 p.D517 0.004 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SLTM HGNC ENSG00000137776 67 0 0 36 16 30.7692 SNX1 0 genome.wustl.edu 37 15 64422122 64422122 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 64422122 64422122 G A SNP SNX1 ENST00000559844 human ensembl 74_37 +1 known missense c.815 p.R272H 1.000 pfscan_Phox pfam_Vps5_C,pfam_Sorting_nexin_N,pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX1 HGNC ENSG00000028528 105 0 0 85 14 14.1414 PLEKHO2 0 genome.wustl.edu 37 15 65157594 65157594 + Missense_Mutation SNP A A T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 65157594 65157594 A T SNP PLEKHO2 ENST00000323544 human ensembl 74_37 +1 known missense c.980 p.E327V 0.001 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHO2 HGNC ENSG00000241839 110 0 0 100 7 6.54206 SPG21 0 genome.wustl.edu 37 15 65257735 65257735 + Silent SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 65257735 65257735 G T SNP SPG21 ENST00000204566 human ensembl 74_37 -1 known silent c.736 p.R246 0.991 NULL pfam_AB_hydrolase_1 - no_errors SPG21 HGNC ENSG00000090487 95 0 0 68 4 5.55556 MEGF11 0 genome.wustl.edu 37 15 66191137 66191137 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 66191137 66191137 G A SNP MEGF11 ENST00000409699 human ensembl 74_37 -1 known missense c.2903 p.P968L 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 102 0 0 69 22 24.1758 NPTN 0 genome.wustl.edu 37 15 73866028 73866028 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 73866028 73866028 C T SNP NPTN ENST00000345330 human ensembl 74_37 -1 known missense c.815 p.R272H 0.921 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_MFS_dom_general_subst_transpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors NPTN HGNC ENSG00000156642 161 0 0 110 34 23.6111 STRA6 0 genome.wustl.edu 37 15 74487706 74487706 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 74487706 74487706 C T SNP STRA6 ENST00000563965 human ensembl 74_37 -1 known silent c.651 p.T217 0.107 NULL NULL - no_errors STRA6 HGNC ENSG00000137868 46 0 0 31 23 42.5926 SEMA7A 0 genome.wustl.edu 37 15 74707019 74707019 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 74707019 74707019 G A SNP SEMA7A ENST00000261918 human ensembl 74_37 -1 known missense c.1163 p.A388V 0.014 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA7A HGNC ENSG00000138623 170 0 0 110 56 33.7349 GOLGA6D 0 genome.wustl.edu 37 15 75581815 75581815 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 75581815 75581815 C T SNP GOLGA6D ENST00000434739 human ensembl 74_37 +1 known silent c.642 p.H214 0.000 NULL NULL - no_errors GOLGA6D HGNC ENSG00000140478 25 0 0 19 11 36.6667 MAN2C1 0 genome.wustl.edu 37 15 75652923 75652923 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 75652923 75652923 A G SNP MAN2C1 ENST00000267978 human ensembl 74_37 -1 known missense c.1567 p.Y523H 1.000 pfam_Glyco_hydro_38_cen_dom,smart_Glyco_hydro_38_cen_dom pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2C1 HGNC ENSG00000140400 95 0 0 66 29 30.5263 PEAK1 0 genome.wustl.edu 37 15 77473379 77473379 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 77473379 77473379 C T SNP PEAK1 ENST00000312493 human ensembl 74_37 -1 known missense c.890 p.R297Q 0.998 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors PEAK1 HGNC ENSG00000173517 123 0 0 95 31 24.6032 LINGO1 0 genome.wustl.edu 37 15 77908005 77908005 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 77908005 77908005 G A SNP LINGO1 ENST00000355300 human ensembl 74_37 -1 known missense c.244 p.R82C 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO1 HGNC ENSG00000169783 23 0 0 26 6 18.75 ACSBG1 0 genome.wustl.edu 37 15 78526805 78526805 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 78526805 78526805 G A SNP ACSBG1 ENST00000258873 human ensembl 74_37 -1 known silent c.39 p.H13 0.012 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSBG1 HGNC ENSG00000103740 324 0 0 242 90 27.1084 ADAMTS7 0 genome.wustl.edu 37 15 79092633 79092633 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 79092633 79092633 C T SNP ADAMTS7 ENST00000388820 human ensembl 74_37 -1 known silent c.357 p.A119 0.233 pfam_Peptidase_M12B_N pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS7 HGNC ENSG00000136378 36 0 0 29 12 29.2683 CTSH 0 genome.wustl.edu 37 15 79229754 79229754 + Silent SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 79229754 79229754 G T SNP CTSH ENST00000220166 human ensembl 74_37 -1 known silent c.135 p.T45 0.125 pfam_Prot_inhib_I29,smart_Prot_inhib_I29 pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSH HGNC ENSG00000103811 76 0 0 59 17 22.3684 ARNT2 0 genome.wustl.edu 37 15 80855535 80855535 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 80855535 80855535 A G SNP ARNT2 ENST00000303329 human ensembl 74_37 +1 known missense c.1271 p.Y424C 1.000 pfam_PAS_fold_3,superfamily_PAS,smart_PAC,tigrfam_PAS pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom,prints_Nuc_translocat,tigrfam_PAS - no_errors ARNT2 HGNC ENSG00000172379 254 0 0 192 68 26.1538 HOMER2 0 genome.wustl.edu 37 15 83520895 83520895 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 83520895 83520895 G A SNP HOMER2 ENST00000304231 human ensembl 74_37 -1 known missense c.794 p.T265I 1.000 NULL pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors HOMER2 HGNC ENSG00000103942 32 0 0 25 6 19.3548 HOMER2 0 genome.wustl.edu 37 15 83523493 83523493 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 83523493 83523493 C T SNP HOMER2 ENST00000304231 human ensembl 74_37 -1 known missense c.587 p.R196Q 1.000 NULL pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors HOMER2 HGNC ENSG00000103942 60 0 0 58 23 28.3951 TM6SF1 0 genome.wustl.edu 37 15 83776454 83776454 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 83776454 83776454 G A SNP TM6SF1 ENST00000379386 human ensembl 74_37 +1 known missense c.22 p.G8R 0.994 NULL pfam_Transmembrane_6/97 - no_errors TM6SF1 HGNC ENSG00000136404 23 0 0 15 6 28.5714 ZSCAN2 0 genome.wustl.edu 37 15 85149775 85149775 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 85149775 85149775 C A SNP ZSCAN2 ENST00000334141 human ensembl 74_37 +1 known missense c.422 p.A141D 0.000 smart_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN2 HGNC ENSG00000176371 72 0 0 57 5 8.06452 DET1 0 genome.wustl.edu 37 15 89074194 89074194 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 89074194 89074194 C T SNP DET1 ENST00000444300 human ensembl 74_37 -1 known missense c.776 p.G259D 1.000 pfam_De-etiolated_protein_1_Det1 pfam_De-etiolated_protein_1_Det1 - no_errors DET1 HGNC ENSG00000140543 70 0 0 46 11 19.2982 ACAN 0 genome.wustl.edu 37 15 89401038 89401038 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 89401038 89401038 G T SNP ACAN ENST00000439576 human ensembl 74_37 +1 known missense c.5222 p.G1741V 0.936 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors ACAN HGNC ENSG00000157766 200 0 0 131 34 20.6061 POLG 0 genome.wustl.edu 37 15 89876827 89876827 + Missense_Mutation SNP T T A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 89876827 89876827 T A SNP POLG ENST00000268124 human ensembl 74_37 -1 known missense c.159 p.Q53H 0.004 pirsf_DNA-dir_DNA_pol_A_mt_sub pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt - no_errors POLG HGNC ENSG00000140521 32 0 0 26 12 31.5789 POLG 0 genome.wustl.edu 37 15 89876828 89876828 + Missense_Mutation SNP T T G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 89876828 89876828 T G SNP POLG ENST00000268124 human ensembl 74_37 -1 known missense c.158 p.Q53P 0.005 pirsf_DNA-dir_DNA_pol_A_mt_sub pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt - no_errors POLG HGNC ENSG00000140521 31 0 0 26 12 31.5789 POLG 0 genome.wustl.edu 37 15 89876836 89876836 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 89876836 89876836 C T SNP POLG ENST00000268124 human ensembl 74_37 -1 known silent c.150 p.Q50 0.002 pirsf_DNA-dir_DNA_pol_A_mt_sub pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt - no_errors POLG HGNC ENSG00000140521 25 0 0 23 10 30.303 IQGAP1 0 genome.wustl.edu 37 15 91017330 91017330 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 91017330 91017330 G A SNP IQGAP1 ENST00000268182 human ensembl 74_37 +1 known missense c.2540 p.R847Q 1.000 pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_WW_dom,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP - no_errors IQGAP1 HGNC ENSG00000140575 52 0 0 35 10 22.2222 ST8SIA2 0 genome.wustl.edu 37 15 93007591 93007591 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 93007591 93007591 C T SNP ST8SIA2 ENST00000268164 human ensembl 74_37 +1 known silent c.1104 p.V368 0.014 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA2 HGNC ENSG00000140557 137 0 0 129 33 20.3704 CIITA 0 genome.wustl.edu 37 16 11000684 11000684 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 11000684 11000684 C T SNP CIITA ENST00000324288 human ensembl 74_37 +1 known silent c.1335 p.Y445 0.985 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact - no_errors CIITA HGNC ENSG00000179583 128 0 0 111 45 28.8462 RHBDF1 0 genome.wustl.edu 37 16 111619 111619 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 111619 111619 C T SNP RHBDF1 ENST00000262316 human ensembl 74_37 -1 known silent c.1284 p.A428 0.953 NULL pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDF1 HGNC ENSG00000007384 98 0 0 68 24 26.087 SSTR5 0 genome.wustl.edu 37 16 1129911 1129911 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 1129911 1129911 C T SNP SSTR5 ENST00000293897 human ensembl 74_37 +1 known missense c.1043 p.P348L 0.001 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt_5,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt - no_errors SSTR5 HGNC ENSG00000162009 31 0 0 19 10 34.4828 RHBDF1 0 genome.wustl.edu 37 16 113084 113084 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 113084 113084 C T SNP RHBDF1 ENST00000262316 human ensembl 74_37 -1 known missense c.559 p.A187T 0.729 pfam_Rhomboid_SP pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDF1 HGNC ENSG00000007384 17 0 0 14 9 39.1304 LITAF 0 genome.wustl.edu 37 16 11643465 11643465 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 11643465 11643465 C T SNP LITAF ENST00000381810 human ensembl 74_37 -1 known missense c.515 p.G172D 0.002 NULL pfam_LITAF,smart_LITAF - no_errors LITAF HGNC ENSG00000189067 32 0 0 14 6 30 TXNDC11 0 genome.wustl.edu 37 16 11785753 11785753 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 11785753 11785753 C T SNP TXNDC11 ENST00000356957 human ensembl 74_37 -1 known silent c.1374 p.Q458 0.999 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC11 HGNC ENSG00000153066 84 0 0 62 31 33.3333 SNX29 0 genome.wustl.edu 37 16 12136881 12136881 + Missense_Mutation SNP A A T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 12136881 12136881 A T SNP SNX29 ENST00000566228 human ensembl 74_37 +1 putative missense c.375 p.E125D 0.540 pfam_Run,smart_Run,pfscan_Run pfam_Run,pfam_Phox,superfamily_Phox,smart_Run,smart_Phox,pfscan_Phox,pfscan_Run - no_errors SNX29 HGNC ENSG00000048471 60 0 0 42 14 25 SNX29 0 genome.wustl.edu 37 16 12223537 12223537 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 12223537 12223537 G A SNP SNX29 ENST00000306030 human ensembl 74_37 +1 known missense c.362 p.R121Q 1.000 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX29 HGNC ENSG00000048471 32 0 0 18 8 30.7692 MYH11 0 genome.wustl.edu 37 16 15818575 15818575 + Nonsense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 15818575 15818575 G A SNP MYH11 ENST00000396324 human ensembl 74_37 -1 known nonsense c.4066 p.Q1356* 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH11 HGNC ENSG00000133392 233 0 0 169 57 25.2212 ABCC6 0 genome.wustl.edu 37 16 16259624 16259624 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 16259624 16259624 C T SNP ABCC6 ENST00000205557 human ensembl 74_37 -1 known silent c.3162 p.T1054 0.982 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC6 HGNC ENSG00000091262 136 0 0 115 12 9.44882 NPRL3 0 genome.wustl.edu 37 16 167353 167353 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 167353 167353 G T SNP NPRL3 ENST00000399953 human ensembl 74_37 -1 known missense c.340 p.P114T 1.000 pfam_NPR3,superfamily_Galactose-bd-like pfam_NPR3,superfamily_Galactose-bd-like - no_errors NPRL3 HGNC ENSG00000103148 22 0 0 17 9 34.6154 HAGH 0 genome.wustl.edu 37 16 1866933 1866933 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 1866933 1866933 G A SNP HAGH ENST00000455446 human ensembl 74_37 -1 putative missense c.599 p.P200L 0.005 NULL pfam_Beta-lactamas-like - no_errors HAGH HGNC ENSG00000063854 65 0 0 46 13 22.0339 SMG1 0 genome.wustl.edu 37 16 18937330 18937330 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 18937330 18937330 T C SNP SMG1 ENST00000389467 human ensembl 74_37 -1 known missense c.34 p.S12G 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 13 0 0 18 3 14.2857 GP2 0 genome.wustl.edu 37 16 20335392 20335392 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 20335392 20335392 C T SNP GP2 ENST00000381362 human ensembl 74_37 -1 known missense c.281 p.R94H 1.000 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors GP2 HGNC ENSG00000169347 111 0 0 88 32 26.6667 ACSM2A 0 genome.wustl.edu 37 16 20481029 20481029 + Missense_Mutation SNP A A C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 20481029 20481029 A C SNP ACSM2A ENST00000219054 human ensembl 74_37 +1 known missense c.584 p.K195T 0.017 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM2A HGNC ENSG00000183747 272 0 0 194 11 5.36585 MLST8 0 genome.wustl.edu 37 16 2258623 2258623 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 2258623 2258623 C T SNP MLST8 ENST00000301724 human ensembl 74_37 +1 putative missense c.871 p.R291C 0.000 NULL pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MLST8 HGNC ENSG00000167965 113 0 0 93 38 29.0076 USP31 0 genome.wustl.edu 37 16 23091266 23091266 + Splice_Site SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 23091266 23091266 C T SNP USP31 ENST00000219689 human ensembl 74_37 -1 known splice_site c.2176+1 e13+1 1.000 - - - no_errors USP31 HGNC ENSG00000103404 58 0 0 40 27 40.2985 TNRC6A 0 genome.wustl.edu 37 16 24828182 24828182 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 24828182 24828182 C A SNP TNRC6A ENST00000395799 human ensembl 74_37 +1 known missense c.4877 p.P1626H 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 163 0 0 82 29 26.1261 ARHGAP17 0 genome.wustl.edu 37 16 24942149 24942149 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 24942149 24942149 C T SNP ARHGAP17 ENST00000289968 human ensembl 74_37 -1 known missense c.2471 p.S824N 0.008 NULL pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors ARHGAP17 HGNC ENSG00000140750 319 0 0 210 77 26.8293 KIAA0556 0 genome.wustl.edu 37 16 27710866 27710866 + Silent SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 27710866 27710866 A G SNP KIAA0556 ENST00000261588 human ensembl 74_37 +1 known silent c.1125 p.G375 0.582 NULL superfamily_Thaumatin - no_errors KIAA0556 HGNC ENSG00000047578 58 0 0 41 16 28.0702 KIAA0556 0 genome.wustl.edu 37 16 27777751 27777751 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 27777751 27777751 C T SNP KIAA0556 ENST00000261588 human ensembl 74_37 +1 known missense c.3931 p.R1311C 1.000 NULL superfamily_Thaumatin - no_errors KIAA0556 HGNC ENSG00000047578 97 0 0 55 21 27.6316 ATP2A1 0 genome.wustl.edu 37 16 28898955 28898955 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 28898955 28898955 C T SNP ATP2A1 ENST00000357084 human ensembl 74_37 +1 known silent c.840 p.N280 0.969 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2A1 HGNC ENSG00000196296 192 0 0 159 38 19.2893 LAT 0 genome.wustl.edu 37 16 28996808 28996808 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 28996808 28996808 G A SNP LAT ENST00000395461 human ensembl 74_37 +1 known missense c.178 p.A60T 0.008 NULL prints_Linker_for_activat_Tcells_prot - no_errors LAT HGNC ENSG00000213658 68 0 0 44 24 35.2941 SPN 0 genome.wustl.edu 37 16 29675057 29675057 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 29675057 29675057 C T SNP SPN ENST00000360121 human ensembl 74_37 +1 known missense c.8 p.T3M 0.069 NULL NULL - no_errors SPN HGNC ENSG00000197471 343 0 0 228 76 25 MAZ 0 genome.wustl.edu 37 16 29818097 29818097 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 29818097 29818097 C T SNP MAZ ENST00000219782 human ensembl 74_37 +1 known silent c.75 p.G25 0.963 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors MAZ HGNC ENSG00000103495 43 0 0 28 16 36.3636 ZNF785 0 genome.wustl.edu 37 16 30594461 30594461 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 30594461 30594461 C A SNP ZNF785 ENST00000395216 human ensembl 74_37 -1 known missense c.638 p.R213M 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF785 HGNC ENSG00000197162 78 0 0 55 23 29.4872 STX1B 0 genome.wustl.edu 37 16 31004789 31004789 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 31004789 31004789 T C SNP STX1B ENST00000215095 human ensembl 74_37 -1 known missense c.554 p.Q185R 1.000 superfamily_t-SNARE pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX1B HGNC ENSG00000099365 88 0 0 94 19 16.8142 PRSS53 0 genome.wustl.edu 37 16 31097788 31097788 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 31097788 31097788 C T SNP PRSS53 ENST00000280606 human ensembl 74_37 -1 known missense c.533 p.R178H 0.992 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS53 HGNC ENSG00000151006 49 0 0 57 12 17.3913 TRIM72 0 genome.wustl.edu 37 16 31235606 31235606 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 31235606 31235606 G A SNP TRIM72 ENST00000322122 human ensembl 74_37 +1 known missense c.964 p.G322R 0.454 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM72 HGNC ENSG00000177238 20 0 0 17 6 26.087 ZSCAN10 0 genome.wustl.edu 37 16 3139545 3139545 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 3139545 3139545 G A SNP ZSCAN10 ENST00000252463 human ensembl 74_37 -1 known silent c.1725 p.G575 0.069 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN10 HGNC ENSG00000130182 19 0 0 20 4 16.6667 OR1F1 0 genome.wustl.edu 37 16 3254621 3254621 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 3254621 3254621 C T SNP OR1F1 ENST00000304646 human ensembl 74_37 +1 known silent c.375 p.A125 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1F1 HGNC ENSG00000168124 215 1 0.462963 164 48 22.6415 VASN 0 genome.wustl.edu 37 16 4431967 4431967 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 4431967 4431967 C T SNP VASN ENST00000304735 human ensembl 74_37 +1 known silent c.1089 p.P363 0.001 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors VASN HGNC ENSG00000168140 33 0 0 29 8 21.6216 DECR2 0 genome.wustl.edu 37 16 457533 457533 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 457533 457533 T C SNP DECR2 ENST00000219481 human ensembl 74_37 +1 known missense c.310 p.F104L 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,smart_PKS/FAS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR - no_errors DECR2 HGNC ENSG00000242612 99 0 0 63 30 32.2581 C16orf71 0 genome.wustl.edu 37 16 4790616 4790616 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 4790616 4790616 C T SNP C16orf71 ENST00000299320 human ensembl 74_37 +1 known missense c.739 p.P247S 0.000 NULL NULL - no_errors C16orf71 HGNC ENSG00000166246 83 0 0 81 16 16.4948 ABCC11 0 genome.wustl.edu 37 16 48256660 48256660 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 48256660 48256660 A G SNP ABCC11 ENST00000356608 human ensembl 74_37 -1 known missense c.626 p.L209P 0.651 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC11 HGNC ENSG00000121270 95 0 0 65 6 8.4507 PPL 0 genome.wustl.edu 37 16 4944524 4944524 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 4944524 4944524 C T SNP PPL ENST00000345988 human ensembl 74_37 -1 known silent c.1338 p.P446 0.000 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 90 0 0 67 27 28.7234 CYLD 0 genome.wustl.edu 37 16 50785686 50785686 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 50785686 50785686 G A SNP CYLD ENST00000311559 human ensembl 74_37 +1 known missense c.676 p.E226K 1.000 superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,pfam_Peptidase_C19/C67,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain,pfscan_Peptidase_C19/C67 - no_errors CYLD HGNC ENSG00000083799 66 0 0 60 13 17.8082 IRX6 0 genome.wustl.edu 37 16 55359040 55359040 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 55359040 55359040 G A SNP IRX6 ENST00000290552 human ensembl 74_37 +1 known missense c.37 p.A13T 0.990 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX6 HGNC ENSG00000159387 38 0 0 25 19 43.1818 OGFOD1 0 genome.wustl.edu 37 16 56501132 56501132 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 56501132 56501132 A G SNP OGFOD1 ENST00000566157 human ensembl 74_37 +1 known missense c.713 p.H238R 1.000 smart_Pro_4_hyd_alph pfam_Oxoglutarate/Fe-dep_Oase_C,smart_Pro_4_hyd_alph - no_errors OGFOD1 HGNC ENSG00000087263 214 0 0 122 46 27.381 CETP 0 genome.wustl.edu 37 16 56996925 56996925 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 56996925 56996925 A G SNP CETP ENST00000200676 human ensembl 74_37 +1 known missense c.122 p.N41S 0.923 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,pirsf_Cholesteryl_ester_transfer pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C,pirsf_Cholesteryl_ester_transfer - no_errors CETP HGNC ENSG00000087237 70 0 0 45 20 30.7692 NLRC5 0 genome.wustl.edu 37 16 57054733 57054733 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 57054733 57054733 C T SNP NLRC5 ENST00000262510 human ensembl 74_37 +1 known missense c.109 p.P37S 0.995 NULL pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 80 0 0 74 19 20.4301 SETD6 0 genome.wustl.edu 37 16 58550381 58550381 + Splice_Site SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 58550381 58550381 G A SNP SETD6 ENST00000219315 human ensembl 74_37 +1 known splice_site c.477-1 e4-1 1.000 - - - no_errors SETD6 HGNC ENSG00000103037 164 0 0 129 44 25.4335 CNOT1 0 genome.wustl.edu 37 16 58566207 58566207 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 58566207 58566207 C T SNP CNOT1 ENST00000317147 human ensembl 74_37 -1 known missense c.5988 p.M1996I 1.000 pfam_CCR4-Not_Not1_C pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 60 0 0 41 14 25.4545 CDH8 0 genome.wustl.edu 37 16 61891117 61891117 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 61891117 61891117 C T SNP CDH8 ENST00000577390 human ensembl 74_37 -1 known silent c.573 p.A191 0.595 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 72 0 0 53 14 20.8955 PIGQ 0 genome.wustl.edu 37 16 632290 632290 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 632290 632290 C A SNP PIGQ ENST00000321878 human ensembl 74_37 +1 known missense c.1574 p.P525H 1.000 NULL pfam_GlcNAc_Gpi1 - no_errors PIGQ HGNC ENSG00000007541 37 0 0 24 7 22.5806 CES3 0 genome.wustl.edu 37 16 67006313 67006313 + Nonsense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 67006313 67006313 C T SNP CES3 ENST00000570236 human ensembl 74_37 +1 known nonsense c.1117 p.R373* 0.000 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES3 HGNC ENSG00000172828 358 0 0 260 96 26.9663 FBXL8 0 genome.wustl.edu 37 16 67197272 67197272 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 67197272 67197272 G A SNP FBXL8 ENST00000258200 human ensembl 74_37 +1 known missense c.674 p.R225Q 0.641 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXL8 HGNC ENSG00000135722 8 0 0 13 6 31.5789 SLC9A5 0 genome.wustl.edu 37 16 67298313 67298313 + Missense_Mutation SNP A A C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 67298313 67298313 A C SNP SLC9A5 ENST00000299798 human ensembl 74_37 +1 known missense c.1901 p.K634T 1.000 prints_Na/H_exchanger_3/5 pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A5 HGNC ENSG00000135740 80 0 0 63 7 10 LRRC36 0 genome.wustl.edu 37 16 67418856 67418856 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 67418856 67418856 C A SNP LRRC36 ENST00000329956 human ensembl 74_37 +1 known missense c.2129 p.P710H 1.000 NULL NULL - no_errors LRRC36 HGNC ENSG00000159708 93 0 0 64 16 20 CTRL 0 genome.wustl.edu 37 16 67965049 67965049 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 67965049 67965049 G A SNP CTRL ENST00000574481 human ensembl 74_37 -1 known silent c.108 p.N36 0.370 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors CTRL HGNC ENSG00000141086 88 0 0 72 26 26.5306 SMPD3 0 genome.wustl.edu 37 16 68405291 68405291 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 68405291 68405291 C T SNP SMPD3 ENST00000219334 human ensembl 74_37 -1 known missense c.794 p.G265D 0.042 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors SMPD3 HGNC ENSG00000103056 46 0 0 35 15 30 ZFP90 0 genome.wustl.edu 37 16 68597621 68597621 + Nonsense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 68597621 68597621 C T SNP ZFP90 ENST00000398253 human ensembl 74_37 +1 known nonsense c.931 p.Q311* 0.231 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 ZFP90 HGNC ENSG00000184939 82 0 0 54 18 25 PDPR 0 genome.wustl.edu 37 16 70172860 70172860 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 70172860 70172860 C T SNP PDPR ENST00000288050 human ensembl 74_37 +1 known silent c.1249 p.L417 0.977 NULL pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_FAD_bind_dom - no_errors PDPR HGNC ENSG00000090857 73 0 0 52 8 13.3333 DDX19A 0 genome.wustl.edu 37 16 70400065 70400065 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 70400065 70400065 A G SNP DDX19A ENST00000302243 human ensembl 74_37 +1 known missense c.682 p.K228E 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX19A HGNC ENSG00000168872 133 0 0 91 17 15.7407 MTSS1L 0 genome.wustl.edu 37 16 70698348 70698348 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 70698348 70698348 G A SNP MTSS1L ENST00000338779 human ensembl 74_37 -1 known silent c.1476 p.S492 0.028 NULL pfam_IRSp53/MIM_homology_IMD - no_errors MTSS1L HGNC ENSG00000132613 18 0 0 16 5 23.8095 CHST4 0 genome.wustl.edu 37 16 71571012 71571012 + Silent SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 71571012 71571012 T C SNP CHST4 ENST00000338482 human ensembl 74_37 +1 known silent c.432 p.D144 0.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST4 HGNC ENSG00000140835 118 0 0 64 28 30.4348 PHLPP2 0 genome.wustl.edu 37 16 71748554 71748554 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 71748554 71748554 T C SNP PHLPP2 ENST00000356272 human ensembl 74_37 -1 known missense c.145 p.T49A 0.136 NULL pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom - no_errors PHLPP2 HGNC ENSG00000040199 43 0 0 32 10 23.8095 STUB1 0 genome.wustl.edu 37 16 731318 731318 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 731318 731318 G A SNP STUB1 ENST00000219548 human ensembl 74_37 +1 known missense c.326 p.S109N 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_Ubox_domain,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ubox_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors STUB1 HGNC ENSG00000103266 60 0 0 30 14 31.8182 WDR24 0 genome.wustl.edu 37 16 739373 739373 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 739373 739373 G A SNP WDR24 ENST00000248142 human ensembl 74_37 -1 known silent c.454 p.L152 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR24 HGNC ENSG00000127580 51 0 0 54 10 15.625 WDR59 0 genome.wustl.edu 37 16 74985388 74985388 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 74985388 74985388 G A SNP WDR59 ENST00000262144 human ensembl 74_37 -1 known silent c.294 p.G98 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_UBQ-conjugating_enzyme/RWD,smart_WD40_repeat,smart_RWD-domain,pfscan_RWD-domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR59 HGNC ENSG00000103091 8 0 0 8 3 27.2727 MON1B 0 genome.wustl.edu 37 16 77228987 77228987 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 77228987 77228987 C T SNP MON1B ENST00000248248 human ensembl 74_37 +1 known missense c.1231 p.R411W 1.000 pfam_Vacuolar_fusion_protein_MON1 pfam_Vacuolar_fusion_protein_MON1,prints_Vacuolar_fusion_protein_MON1 - no_errors MON1B HGNC ENSG00000103111 21 0 0 16 5 23.8095 ADAMTS18 0 genome.wustl.edu 37 16 77393314 77393314 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 77393314 77393314 G A SNP ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known missense c.1223 p.A408V 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS18 HGNC ENSG00000140873 53 0 0 45 5 10 CLEC3A 0 genome.wustl.edu 37 16 78064352 78064352 + Nonsense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 78064352 78064352 C T SNP CLEC3A ENST00000299642 human ensembl 74_37 +1 known nonsense c.235 p.R79* 1.000 superfamily_C-type_lectin_fold,smart_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC3A HGNC ENSG00000166509 213 0 0 157 20 11.2994 PLCG2 0 genome.wustl.edu 37 16 81957092 81957092 + Silent SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 81957092 81957092 T C SNP PLCG2 ENST00000359376 human ensembl 74_37 +1 known silent c.2310 p.P770 1.000 superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_SH3_domain,pirsf_PLC-gamma,pfscan_SH3_domain pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_dom,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain - no_errors PLCG2 HGNC ENSG00000197943 33 0 0 16 11 40.7407 OSGIN1 0 genome.wustl.edu 37 16 83994314 83994314 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 83994314 83994314 C T SNP OSGIN1 ENST00000361711 human ensembl 74_37 +1 known silent c.345 p.H115 0.760 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors OSGIN1 HGNC ENSG00000140961 57 0 0 48 6 11.1111 CHTF18 0 genome.wustl.edu 37 16 847077 847077 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 847077 847077 G A SNP CHTF18 ENST00000317063 human ensembl 74_37 +1 known silent c.3345 p.A1115 0.000 NULL pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors CHTF18 HGNC ENSG00000127586 105 0 0 62 26 29.5455 ZCCHC14 0 genome.wustl.edu 37 16 87446393 87446393 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 87446393 87446393 C T SNP ZCCHC14 ENST00000268616 human ensembl 74_37 -1 known missense c.1523 p.R508H 0.965 NULL pfam_SAM_type1,pfam_Znf_CCHC,superfamily_Phox,superfamily_SAM/pointed,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC14 HGNC ENSG00000140948 96 0 0 63 33 34.375 SLC7A5 0 genome.wustl.edu 37 16 87870112 87870112 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 87870112 87870112 G A SNP SLC7A5 ENST00000261622 human ensembl 74_37 -1 known missense c.1282 p.P428S 1.000 pirsf_AA/rel_permease1,tigrfam_L_AA_transporter pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter - no_errors SLC7A5 HGNC ENSG00000103257 40 0 0 27 12 30.7692 ZC3H18 0 genome.wustl.edu 37 16 88697651 88697651 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 88697651 88697651 A G SNP ZC3H18 ENST00000301011 human ensembl 74_37 +1 known missense c.2806 p.K936E 1.000 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 47 0 0 32 12 27.2727 CTU2 0 genome.wustl.edu 37 16 88780094 88780094 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 88780094 88780094 C T SNP CTU2 ENST00000567949 human ensembl 74_37 +1 known missense c.1126 p.R376W 0.997 pfam_Thiouridylase_cyt_su2 pfam_Thiouridylase_cyt_su2 - no_errors CTU2 HGNC ENSG00000174177 147 0 0 113 43 27.5641 CDH15 0 genome.wustl.edu 37 16 89258292 89258292 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 89258292 89258292 C T SNP CDH15 ENST00000289746 human ensembl 74_37 +1 known silent c.1605 p.S535 0.991 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH15 HGNC ENSG00000129910 9 0 0 14 4 22.2222 CPNE7 0 genome.wustl.edu 37 16 89645292 89645292 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 89645292 89645292 G A SNP CPNE7 ENST00000268720 human ensembl 74_37 +1 known missense c.385 p.V129M 0.001 superfamily_C2_dom,smart_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE7 HGNC ENSG00000178773 73 0 0 40 15 27.2727 CHMP1A 0 genome.wustl.edu 37 16 89713100 89713100 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 89713100 89713100 G A SNP CHMP1A ENST00000397901 human ensembl 74_37 -1 known missense c.404 p.S135L 1.000 pfam_Snf7 pfam_Snf7 - no_errors CHMP1A HGNC ENSG00000131165 24 0 0 20 4 16.6667 DEF8 0 genome.wustl.edu 37 16 90028534 90028534 + Splice_Site SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 90028534 90028534 G A SNP DEF8 ENST00000268676 human ensembl 74_37 +1 known splice_site c.1104+1 e8+1 1.000 - - - no_errors DEF8 HGNC ENSG00000140995 22 0 0 26 5 16.129 GAS8 0 genome.wustl.edu 37 16 90097848 90097848 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 90097848 90097848 C T SNP GAS8 ENST00000268699 human ensembl 74_37 +1 known missense c.232 p.R78W 1.000 NULL NULL - no_errors GAS8 HGNC ENSG00000141013 15 0 0 11 8 42.1053 MYH1 0 genome.wustl.edu 37 17 10404029 10404029 + Missense_Mutation SNP A A C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 10404029 10404029 A C SNP MYH1 ENST00000226207 human ensembl 74_37 -1 known missense c.3779 p.L1260R 0.972 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 109 0 0 77 28 26.6667 MYOCD 0 genome.wustl.edu 37 17 12647672 12647672 + Missense_Mutation SNP T T G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 12647672 12647672 T G SNP MYOCD ENST00000425538 human ensembl 74_37 +1 known missense c.890 p.L297R 1.000 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MYOCD HGNC ENSG00000141052 75 0 0 59 9 13.2353 COX10 0 genome.wustl.edu 37 17 13977692 13977692 + Silent SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 13977692 13977692 C A SNP COX10 ENST00000261643 human ensembl 74_37 +1 known silent c.96 p.S32 0.105 pirsf_Protohaem_IX_farnesylTrfase_mt pfam_UbiA_prenyltransferase,pirsf_Protohaem_IX_farnesylTrfase_mt,tigrfam_Protohaem_IX_farnesylTrfase - no_errors COX10 HGNC ENSG00000006695 162 0 0 76 29 27.619 SLC43A2 0 genome.wustl.edu 37 17 1489330 1489330 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 1489330 1489330 G T SNP SLC43A2 ENST00000382147 human ensembl 74_37 -1 known missense c.1106 p.S369Y 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC43A2 HGNC ENSG00000167703 23 0 0 16 2 11.1111 TEKT3 0 genome.wustl.edu 37 17 15207323 15207323 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 15207323 15207323 A G SNP TEKT3 ENST00000338696 human ensembl 74_37 -1 known missense c.1403 p.I468T 1.000 pfam_Tektin,prints_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT3 HGNC ENSG00000125409 101 0 0 79 25 24.0385 TVP23C 0 genome.wustl.edu 37 17 15441469 15441469 + Splice_Site SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 15441469 15441469 C T SNP TVP23C ENST00000523573 human ensembl 74_37 -1 known splice_site c.162-2 e5-2 0.998 - - - no_errors TVP23C HGNC ENSG00000175106 62 0 0 56 10 15.1515 CDRT1 0 genome.wustl.edu 37 17 15522766 15522766 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 15522766 15522766 C T SNP CDRT1 ENST00000395906 human ensembl 74_37 -1 known missense c.61 p.D21N 0.001 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors CDRT1 HGNC ENSG00000241322 384 1 0.25974 287 34 10.5919 TBC1D26 0 genome.wustl.edu 37 17 15644464 15644464 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 15644464 15644464 G A SNP TBC1D26 ENST00000437605 human ensembl 74_37 +1 known missense c.575 p.R192H 0.569 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D26 HGNC ENSG00000214946 94 0 0 96 7 6.79612 NCOR1 0 genome.wustl.edu 37 17 15973538 15973538 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 15973538 15973538 G T SNP NCOR1 ENST00000268712 human ensembl 74_37 -1 known missense c.4454 p.P1485H 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 298 0 0 207 58 21.8868 WDR81 0 genome.wustl.edu 37 17 1631762 1631762 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 1631762 1631762 G A SNP WDR81 ENST00000409644 human ensembl 74_37 +1 known missense c.3509 p.G1170E 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC ENSG00000167716 30 0 0 28 8 22.2222 TRPV2 0 genome.wustl.edu 37 17 16327046 16327046 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 16327046 16327046 C A SNP TRPV2 ENST00000338560 human ensembl 74_37 +1 known missense c.889 p.P297T 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel - no_errors TRPV2 HGNC ENSG00000187688 96 0 0 74 18 19.5652 SMYD4 0 genome.wustl.edu 37 17 1684630 1684630 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 1684630 1684630 T C SNP SMYD4 ENST00000305513 human ensembl 74_37 -1 known missense c.2365 p.K789E 1.000 NULL pfam_SET_dom,pfam_Znf_MYND,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD4 HGNC ENSG00000186532 104 0 0 78 8 9.30233 SMYD4 0 genome.wustl.edu 37 17 1684734 1684734 + Splice_Site SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 1684734 1684734 C A SNP SMYD4 ENST00000305513 human ensembl 74_37 -1 known splice_site c.2262-1 e10-1 1.000 - - - no_errors SMYD4 HGNC ENSG00000186532 48 0 0 38 16 29.6296 MPRIP 0 genome.wustl.edu 37 17 17075078 17075078 + Missense_Mutation SNP A A C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 17075078 17075078 A C SNP MPRIP ENST00000395811 human ensembl 74_37 +1 known missense c.2210 p.K737T 1.000 superfamily_Ferritin-like_SF pfam_Pleckstrin_homology,superfamily_Ferritin-like_SF,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors MPRIP HGNC ENSG00000133030 172 0 0 151 9 5.625 RAI1 0 genome.wustl.edu 37 17 17697887 17697887 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 17697887 17697887 T C SNP RAI1 ENST00000353383 human ensembl 74_37 +1 known missense c.1625 p.V542A 1.000 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 88 0 0 62 23 27.0588 MYO15A 0 genome.wustl.edu 37 17 18077133 18077133 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 18077133 18077133 G A SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known silent c.10389 p.S3463 0.001 pfscan_FERM_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 104 0 0 76 37 32.7434 LLGL1 0 genome.wustl.edu 37 17 18140983 18140983 + Silent SNP T T A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 18140983 18140983 T A SNP LLGL1 ENST00000316843 human ensembl 74_37 +1 known silent c.1800 p.A600 0.826 superfamily_WD40_repeat_dom pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL1 HGNC ENSG00000131899 36 0 0 41 16 28.0702 FLII 0 genome.wustl.edu 37 17 18151054 18151054 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 18151054 18151054 T C SNP FLII ENST00000327031 human ensembl 74_37 -1 known missense c.2404 p.K802E 1.000 pfam_Gelsolin_dom,smart_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors FLII HGNC ENSG00000177731 36 0 0 32 12 27.2727 FLII 0 genome.wustl.edu 37 17 18157847 18157847 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 18157847 18157847 T C SNP FLII ENST00000327031 human ensembl 74_37 -1 known missense c.563 p.H188R 1.000 NULL pfam_Gelsolin_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors FLII HGNC ENSG00000177731 20 0 0 12 5 29.4118 SLC5A10 0 genome.wustl.edu 37 17 18874389 18874389 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 18874389 18874389 G T SNP SLC5A10 ENST00000395647 human ensembl 74_37 +1 known missense c.704 p.R235M 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A10 HGNC ENSG00000154025 103 0 0 85 29 25.4386 SNORD3B-1 0 genome.wustl.edu 37 17 18965498 18965498 + RNA SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 18965498 18965498 C T SNP SNORD3B-1 ENST00000577988 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNORD3B-1 HGNC ENSG00000265185 26 0 0 23 6 20.6897 HIC1 0 genome.wustl.edu 37 17 1961428 1961428 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 1961428 1961428 G A SNP HIC1 ENST00000322941 human ensembl 74_37 +1 known missense c.1501 p.G501R 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors HIC1 HGNC ENSG00000177374 24 0 0 19 10 34.4828 FLJ36000 0 genome.wustl.edu 37 17 21909432 21909432 + RNA SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 21909432 21909432 G T SNP FLJ36000 ENST00000581223 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors RP11-744K17.9 Clone_based_vega_gene ENSG00000266795 10 0 0 6 3 33.3333 METTL16 0 genome.wustl.edu 37 17 2324130 2324130 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 2324130 2324130 G A SNP METTL16 ENST00000263092 human ensembl 74_37 -1 known silent c.957 p.S319 0.951 pirsf_S-AdoMet-dep_MeTrfase_Mett10D pfam_rRNA_lsu_MeTfrase_F-like,pirsf_S-AdoMet-dep_MeTrfase_Mett10D - no_errors METTL16 HGNC ENSG00000127804 336 0 0 184 59 24.2798 TNFAIP1 0 genome.wustl.edu 37 17 26669397 26669397 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 26669397 26669397 G A SNP TNFAIP1 ENST00000226225 human ensembl 74_37 +1 known missense c.643 p.G215S 1.000 NULL pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors TNFAIP1 HGNC ENSG00000109079 45 0 0 30 14 31.8182 RAB34 0 genome.wustl.edu 37 17 27042858 27042858 + Nonsense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 27042858 27042858 C A SNP RAB34 ENST00000447716 human ensembl 74_37 -1 known nonsense c.445 p.E149* 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB34 HGNC ENSG00000109113 251 0 0 162 53 24.6512 TAOK1 0 genome.wustl.edu 37 17 27869900 27869900 + Nonsense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 27869900 27869900 C T SNP TAOK1 ENST00000261716 human ensembl 74_37 +1 known nonsense c.2866 p.R956* 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TAOK1 HGNC ENSG00000160551 49 0 0 34 11 24.4444 OR1A1 0 genome.wustl.edu 37 17 3119024 3119024 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 3119024 3119024 T C SNP OR1A1 ENST00000304094 human ensembl 74_37 +1 known missense c.110 p.I37T 1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1A1 HGNC ENSG00000172146 194 0 0 123 47 27.6471 SLFN11 0 genome.wustl.edu 37 17 33689788 33689788 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 33689788 33689788 A G SNP SLFN11 ENST00000308377 human ensembl 74_37 -1 known missense c.1039 p.W347R 0.009 NULL pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN11 HGNC ENSG00000172716 91 0 0 63 24 27.5862 GAS2L2 0 genome.wustl.edu 37 17 34074093 34074093 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 34074093 34074093 G A SNP GAS2L2 ENST00000254466 human ensembl 74_37 -1 known missense c.1027 p.P343S 0.000 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L2 HGNC ENSG00000132139 97 0 0 70 38 35.1852 RDM1 0 genome.wustl.edu 37 17 34251627 34251627 + Silent SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 34251627 34251627 A G SNP RDM1 ENST00000293273 human ensembl 74_37 -1 known silent c.549 p.P183 0.003 pfam_Rad52_Rad22 pfam_RRM_dom,pfam_Rad52_Rad22,pfscan_RRM_dom - no_errors RDM1 HGNC ENSG00000187456 254 0 0 159 66 29.3333 TRPV1 0 genome.wustl.edu 37 17 3475428 3475428 + Missense_Mutation SNP C C G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 3475428 3475428 C G SNP TRPV1 ENST00000399756 human ensembl 74_37 -1 known missense c.2219 p.R740P 1.000 prints_TRPV1-4_channel,tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel - no_errors TRPV1 HGNC ENSG00000196689 43 0 0 33 8 19.5122 GSG2 0 genome.wustl.edu 37 17 3628052 3628052 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 3628052 3628052 C T SNP GSG2 ENST00000325418 human ensembl 74_37 +1 known silent c.823 p.L275 0.005 NULL pfam_DUF3635,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors GSG2 HGNC ENSG00000177602 90 0 0 76 27 26.2136 PSMD3 0 genome.wustl.edu 37 17 38146397 38146397 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 38146397 38146397 A G SNP PSMD3 ENST00000264639 human ensembl 74_37 +1 known missense c.928 p.T310A 1.000 smart_PAM pfam_26S_Psome_reg_C,pfam_PCI_dom,smart_PAM,smart_PCI_dom - no_errors PSMD3 HGNC ENSG00000108344 88 0 0 69 9 11.5385 CASC3 0 genome.wustl.edu 37 17 38324130 38324130 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 38324130 38324130 A G SNP CASC3 ENST00000264645 human ensembl 74_37 +1 known missense c.1679 p.H560R 1.000 NULL pfam_Btz_dom - no_errors CASC3 HGNC ENSG00000108349 262 0 0 165 49 22.8972 KRT10 0 genome.wustl.edu 37 17 38978389 38978389 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 38978389 38978389 A G SNP KRT10 ENST00000269576 human ensembl 74_37 -1 known missense c.449 p.M150T 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT10 HGNC ENSG00000186395 85 0 0 65 14 17.7215 KRTAP4-6 0 genome.wustl.edu 37 17 39296254 39296254 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 39296254 39296254 C T SNP KRTAP4-6 ENST00000345847 human ensembl 74_37 -1 known silent c.486 p.P162 0.002 NULL pfam_Keratin-assoc - no_errors KRTAP4-6 HGNC ENSG00000198090 24 0 0 28 3 9.67742 KRTAP4-6 0 genome.wustl.edu 37 17 39296555 39296555 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 39296555 39296555 C T SNP KRTAP4-6 ENST00000345847 human ensembl 74_37 -1 known missense c.185 p.R62H 0.000 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP4-6 HGNC ENSG00000198090 134 0 0 100 41 29.078 KRT33B 0 genome.wustl.edu 37 17 39520151 39520151 + Silent SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 39520151 39520151 G T SNP KRT33B ENST00000251646 human ensembl 74_37 -1 known silent c.1152 p.S384 0.951 NULL pfam_IF,prints_Keratin_I - no_errors KRT33B HGNC ENSG00000131738 121 0 0 87 26 23.0088 KRT16 0 genome.wustl.edu 37 17 39767417 39767417 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 39767417 39767417 G A SNP KRT16 ENST00000301653 human ensembl 74_37 -1 known silent c.837 p.G279 0.000 pfam_IF,superfamily_Prefoldin,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT16 HGNC ENSG00000186832 174 0 0 111 39 26 TTC25 0 genome.wustl.edu 37 17 40093140 40093140 + RNA SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 40093140 40093140 C T SNP TTC25 ENST00000377540 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors TTC25 HGNC ENSG00000204815 207 1 0.480769 118 35 22.8758 PLEKHH3 0 genome.wustl.edu 37 17 40828492 40828492 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 40828492 40828492 G A SNP PLEKHH3 ENST00000591022 human ensembl 74_37 -1 known silent c.90 p.S30 1.000 NULL pfam_MyTH4_dom,pfam_FERM_central,pfam_Ras-assoc,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH3 HGNC ENSG00000068137 30 0 0 27 12 30.7692 CNTNAP1 0 genome.wustl.edu 37 17 40839807 40839807 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 40839807 40839807 G A SNP CNTNAP1 ENST00000264638 human ensembl 74_37 +1 known missense c.1114 p.V372I 0.995 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC ENSG00000108797 164 0 0 132 55 29.4118 AOC4P 0 genome.wustl.edu 37 17 41019639 41019639 + RNA SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 41019639 41019639 G A SNP AOC4P ENST00000562301 human ensembl 74_37 +1 known rna NULL NULL 0.832 - - - no_errors AOC4P HGNC ENSG00000260105 97 0 0 86 5 5.49451 BRCA1 0 genome.wustl.edu 37 17 41226527 41226527 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 41226527 41226527 G A SNP BRCA1 ENST00000471181 human ensembl 74_37 -1 known missense c.4559 p.S1520F 0.005 pirsf_BRCA1 pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING - no_errors BRCA1 HGNC ENSG00000012048 58 0 0 22 13 37.1429 NBR1 0 genome.wustl.edu 37 17 41345126 41345126 + Silent SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 41345126 41345126 C A SNP NBR1 ENST00000341165 human ensembl 74_37 +1 known silent c.1089 p.P363 0.879 NULL pfam_OPR_PB1,pfam_Znf_ZZ,superfamily_UBA-like,smart_OPR_PB1,smart_Znf_ZZ,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_ZZ - no_errors NBR1 HGNC ENSG00000188554 48 0 0 39 9 18.75 DBF4B 0 genome.wustl.edu 37 17 42811492 42811492 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 42811492 42811492 G A SNP DBF4B ENST00000315005 human ensembl 74_37 +1 known silent c.591 p.A197 0.000 NULL pfam_Znf_DBF,superfamily_BRCT_dom,smart_Znf_DBF - no_errors DBF4B HGNC ENSG00000161692 117 0 0 57 28 32.9412 CRHR1 0 genome.wustl.edu 37 17 43907871 43907871 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 43907871 43907871 C T SNP CRHR1 ENST00000398285 human ensembl 74_37 +1 known missense c.731 p.T244I 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF1_rcpt,prints_GPCR_2_diuretic_rcpt - no_errors CRHR1 HGNC ENSG00000120088 182 0 0 206 11 5.06912 KANSL1 0 genome.wustl.edu 37 17 44249250 44249250 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 44249250 44249250 A G SNP KANSL1 ENST00000262419 human ensembl 74_37 -1 known missense c.260 p.V87A 1.000 NULL NULL - no_errors KANSL1 HGNC ENSG00000120071 171 0 0 82 35 29.9145 MYBBP1A 0 genome.wustl.edu 37 17 4442846 4442846 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 4442846 4442846 T C SNP MYBBP1A ENST00000381556 human ensembl 74_37 -1 known missense c.3851 p.K1284R 0.937 NULL pfam_DNA_pol_V,superfamily_ARM-type_fold - no_errors MYBBP1A HGNC ENSG00000132382 356 1 0.280112 232 96 29.2683 TM4SF5 0 genome.wustl.edu 37 17 4685824 4685824 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 4685824 4685824 G A SNP TM4SF5 ENST00000270560 human ensembl 74_37 +1 known silent c.285 p.A95 0.001 pfam_L6_membrane pfam_L6_membrane - no_errors TM4SF5 HGNC ENSG00000142484 152 0 0 108 40 27.027 SPAG9 0 genome.wustl.edu 37 17 49043750 49043750 + Splice_Site SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 49043750 49043750 T C SNP SPAG9 ENST00000262013 human ensembl 74_37 -1 known splice_site c.3851-2 e30-2 0.936 - - - no_errors SPAG9 HGNC ENSG00000008294 115 0 0 61 17 21.7949 SLC52A1 0 genome.wustl.edu 37 17 4937492 4937492 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 4937492 4937492 G T SNP SLC52A1 ENST00000254853 human ensembl 74_37 -1 known missense c.292 p.L98M 0.955 NULL pfam_Endogenous_retrovirus_rcpt - no_errors SLC52A1 HGNC ENSG00000132517 105 0 0 70 23 24.7312 ZNF594 0 genome.wustl.edu 37 17 5087385 5087385 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 5087385 5087385 A G SNP ZNF594 ENST00000399604 human ensembl 74_37 -1 known missense c.167 p.M56T 0.137 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF594 HGNC ENSG00000180626 136 0 0 80 32 28.5714 LOC100130950 0 genome.wustl.edu 37 17 5137953 5137953 + RNA SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 5137953 5137953 C T SNP LOC100130950 ENST00000571689 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-333E1.1 Clone_based_vega_gene ENSG00000261879 16 0 0 11 4 26.6667 AKAP1 0 genome.wustl.edu 37 17 55189188 55189188 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 55189188 55189188 G A SNP AKAP1 ENST00000337714 human ensembl 74_37 +1 known silent c.1878 p.Q626 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_Tudor,pfam_KH_dom_type_1,smart_KH_dom,smart_Tudor,pfscan_Tudor,pfscan_KH_dom_type_1 - no_errors AKAP1 HGNC ENSG00000121057 138 0 0 97 14 12.6126 LPO 0 genome.wustl.edu 37 17 56344853 56344853 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 56344853 56344853 G A SNP LPO ENST00000262290 human ensembl 74_37 +1 known missense c.1837 p.A613T 0.998 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors LPO HGNC ENSG00000167419 101 0 0 78 29 27.1028 SMG8 0 genome.wustl.edu 37 17 57289053 57289053 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 57289053 57289053 C T SNP SMG8 ENST00000300917 human ensembl 74_37 +1 known silent c.1641 p.Y547 0.969 pfam_Smg8/Smg9 pfam_Smg8/Smg9 - no_errors SMG8 HGNC ENSG00000167447 102 1 0.970874 60 18 23.0769 RNFT1 0 genome.wustl.edu 37 17 58040355 58040355 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 58040355 58040355 C T SNP RNFT1 ENST00000305783 human ensembl 74_37 -1 known missense c.347 p.R116Q 0.995 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNFT1 HGNC ENSG00000189050 119 0 0 51 28 35.443 USP32 0 genome.wustl.edu 37 17 58259002 58259002 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 58259002 58259002 G A SNP USP32 ENST00000300896 human ensembl 74_37 -1 known silent c.4231 p.L1411 0.990 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_EF_hand_dom,smart_Pept_C19_DUSP,pfscan_EF_hand_dom,pfscan_Peptidase_C19/C67,prints_Recoverin - no_errors USP32 HGNC ENSG00000170832 58 0 0 48 15 23.8095 TBC1D3P2 0 genome.wustl.edu 37 17 60342435 60342435 + RNA SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 60342435 60342435 T C SNP TBC1D3P2 ENST00000581291 human ensembl 74_37 -1 known rna NULL NULL 0.007 - - - no_errors TBC1D3P2 HGNC ENSG00000188755 80 0 0 68 16 19.0476 CD79B 0 genome.wustl.edu 37 17 62007589 62007589 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 62007589 62007589 T C SNP CD79B ENST00000392795 human ensembl 74_37 -1 known missense c.278 p.E93G 0.001 pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Phos_immunorcpt_sig_ITAM,smart_Ig_sub,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM,pfscan_Ig-like_dom - no_errors CD79B HGNC ENSG00000007312 82 0 0 60 25 29.4118 PLEKHM1P 0 genome.wustl.edu 37 17 62818377 62818377 + RNA SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 62818377 62818377 C T SNP PLEKHM1P ENST00000397718 human ensembl 74_37 -1 known rna NULL NULL 0.753 - - - no_errors PLEKHM1P HGNC ENSG00000214176 64 0 0 49 14 22.2222 NOL11 0 genome.wustl.edu 37 17 65733740 65733740 + Missense_Mutation SNP A A C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 65733740 65733740 A C SNP NOL11 ENST00000253247 human ensembl 74_37 +1 known missense c.1335 p.K445N 0.971 NULL pfam_NUC205 - no_errors NOL11 HGNC ENSG00000130935 181 0 0 112 42 27.2727 SLC16A6 0 genome.wustl.edu 37 17 66267454 66267454 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 66267454 66267454 G A SNP SLC16A6 ENST00000327268 human ensembl 74_37 -1 known silent c.847 p.L283 0.003 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A6 HGNC ENSG00000108932 77 0 0 57 15 20.8333 ABCA10 0 genome.wustl.edu 37 17 67152020 67152020 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 67152020 67152020 C T SNP ABCA10 ENST00000269081 human ensembl 74_37 -1 known missense c.3502 p.E1168K 0.001 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ENSG00000154263 124 0 0 84 27 24.3243 ABCA5 0 genome.wustl.edu 37 17 67298973 67298973 + Silent SNP A A C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 67298973 67298973 A C SNP ABCA5 ENST00000392677 human ensembl 74_37 -1 known silent c.1005 p.T335 0.546 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ENSG00000154265 37 0 0 22 7 24.1379 DVL2 0 genome.wustl.edu 37 17 7130487 7130487 + Silent SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 7130487 7130487 G T SNP DVL2 ENST00000005340 human ensembl 74_37 -1 known silent c.1465 p.R489 1.000 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_2,prints_Dishevelled_fam - no_errors DVL2 HGNC ENSG00000004975 243 0 0 184 58 23.9669 SDK2 0 genome.wustl.edu 37 17 71386498 71386498 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 71386498 71386498 G A SNP SDK2 ENST00000392650 human ensembl 74_37 -1 known missense c.4120 p.R1374C 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK2 HGNC ENSG00000069188 28 0 0 19 7 26.9231 NEURL4 0 genome.wustl.edu 37 17 7222050 7222050 + RNA SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 7222050 7222050 C T SNP NEURL4 ENST00000574120 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NEURL4 HGNC ENSG00000215041 33 0 0 30 13 30.2326 KIF19 0 genome.wustl.edu 37 17 72346664 72346664 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 72346664 72346664 C T SNP KIF19 ENST00000389916 human ensembl 74_37 +1 known silent c.1338 p.R446 0.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF19 HGNC ENSG00000196169 48 0 0 32 10 23.8095 FDXR 0 genome.wustl.edu 37 17 72860170 72860170 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 72860170 72860170 C T SNP FDXR ENST00000581530 human ensembl 74_37 -1 known missense c.1040 p.R347H 0.665 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors FDXR HGNC ENSG00000161513 111 0 0 73 25 25.5102 NUP85 0 genome.wustl.edu 37 17 73208107 73208107 + Missense_Mutation SNP A A T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 73208107 73208107 A T SNP NUP85 ENST00000245544 human ensembl 74_37 +1 known missense c.311 p.N104I 1.000 pfam_Nucleoporin_Nup85 pfam_Nucleoporin_Nup85 - no_errors NUP85 HGNC ENSG00000125450 32 0 0 21 12 36.3636 SPEM1 0 genome.wustl.edu 37 17 7324902 7324902 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 7324902 7324902 A G SNP SPEM1 ENST00000323675 human ensembl 74_37 +1 known missense c.908 p.Y303C 0.958 NULL NULL - no_errors SPEM1 HGNC ENSG00000181323 48 0 0 35 8 18.6047 LLGL2 0 genome.wustl.edu 37 17 73554653 73554653 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 73554653 73554653 G T SNP LLGL2 ENST00000392550 human ensembl 74_37 +1 known missense c.316 p.G106C 0.005 superfamily_WD40_repeat_dom pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL2 HGNC ENSG00000073350 15 0 0 22 8 26.6667 RECQL5 0 genome.wustl.edu 37 17 73625168 73625168 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 73625168 73625168 C T SNP RECQL5 ENST00000317905 human ensembl 74_37 -1 known missense c.2335 p.A779T 0.000 pfam_RecQ_helicase-like_5 pfam_RecQ_helicase-like_5,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL5 HGNC ENSG00000108469 60 0 0 55 23 29.4872 MRPL38 0 genome.wustl.edu 37 17 73894995 73894995 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 73894995 73894995 C T SNP MRPL38 ENST00000309352 human ensembl 74_37 -1 known missense c.1079 p.R360Q 1.000 NULL pfam_PtdEtn-bd_prot_PEBP,superfamily_PtdEtn-bd_prot_PEBP - no_errors MRPL38 HGNC ENSG00000204316 25 0 0 20 9 31.0345 POLR2A 0 genome.wustl.edu 37 17 7416391 7416391 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 7416391 7416391 G A SNP POLR2A ENST00000322644 human ensembl 74_37 +1 known missense c.4808 p.R1603H 1.000 pfam_RNA_pol_II_repeat_euk pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC ENSG00000181222 340 0 0 232 72 23.6842 SENP3 0 genome.wustl.edu 37 17 7473797 7473797 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 7473797 7473797 C T SNP SENP3 ENST00000429205 human ensembl 74_37 +1 known missense c.1465 p.R489C 1.000 pfam_Peptidase_C48,pfscan_Peptidase_C48 pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP3 HGNC ENSG00000161956 47 0 0 30 9 23.0769 SEC14L1 0 genome.wustl.edu 37 17 75209468 75209468 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 75209468 75209468 G A SNP SEC14L1 ENST00000392476 human ensembl 74_37 +1 known missense c.1936 p.A646T 0.797 superfamily_GOLD,pfscan_GOLD pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1 - no_errors SEC14L1 HGNC ENSG00000129657 41 0 0 36 25 40.9836 TNRC6C 0 genome.wustl.edu 37 17 76047111 76047111 + Silent SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 76047111 76047111 G T SNP TNRC6C ENST00000335749 human ensembl 74_37 +1 known silent c.1968 p.G656 0.779 NULL pfam_Argonaute_hook_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TNRC6C HGNC ENSG00000078687 35 0 0 18 10 35.7143 RPTOR 0 genome.wustl.edu 37 17 78857713 78857713 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 78857713 78857713 G A SNP RPTOR ENST00000306801 human ensembl 74_37 +1 known missense c.1783 p.G595S 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor - no_errors RPTOR HGNC ENSG00000141564 110 0 0 66 38 36.5385 FASN 0 genome.wustl.edu 37 17 80038668 80038668 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 80038668 80038668 C T SNP FASN ENST00000306749 human ensembl 74_37 -1 known silent c.6726 p.R2242 1.000 pfam_Thioesterase pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 16 0 0 26 3 10.3448 CCDC57 0 genome.wustl.edu 37 17 80146227 80146227 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 80146227 80146227 A G SNP CCDC57 ENST00000389641 human ensembl 74_37 -1 known missense c.920 p.V307A 0.000 NULL NULL - no_errors CCDC57 HGNC ENSG00000176155 33 0 0 23 3 11.5385 CTC1 0 genome.wustl.edu 37 17 8133224 8133224 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 8133224 8133224 G A SNP CTC1 ENST00000315684 human ensembl 74_37 -1 known missense c.2996 p.P999L 0.152 NULL NULL - no_errors CTC1 HGNC ENSG00000178971 76 0 0 52 11 17.4603 MYH10 0 genome.wustl.edu 37 17 8396272 8396272 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 8396272 8396272 T C SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known missense c.4250 p.K1417R 1.000 pfam_Myosin_tail 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 170 0 0 112 27 19.4245 MFSD6L 0 genome.wustl.edu 37 17 8701551 8701551 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 8701551 8701551 C T SNP MFSD6L ENST00000329805 human ensembl 74_37 -1 known silent c.888 p.S296 0.000 NULL superfamily_MFS_dom_general_subst_transpt - no_errors MFSD6L HGNC ENSG00000185156 101 0 0 97 16 14.1593 TIMM22 0 genome.wustl.edu 37 17 900433 900433 + Silent SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 900433 900433 T C SNP TIMM22 ENST00000327158 human ensembl 74_37 +1 known silent c.51 p.G17 0.000 NULL pfam_Tim17/Tim22/Tim23/PMP24 - no_errors TIMM22 HGNC ENSG00000177370 33 0 0 26 16 38.0952 USP43 0 genome.wustl.edu 37 17 9604465 9604465 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 9604465 9604465 C T SNP USP43 ENST00000285199 human ensembl 74_37 +1 known missense c.1565 p.A522V 0.980 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP43 HGNC ENSG00000154914 16 0 0 12 4 25 LAMA3 0 genome.wustl.edu 37 18 21396419 21396419 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 18 21396419 21396419 C T SNP LAMA3 ENST00000313654 human ensembl 74_37 +1 known silent c.2115 p.C705 1.000 pfam_EGF_laminin,smart_EGF_laminin pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA3 HGNC ENSG00000053747 58 0 0 41 14 25.4545 LRRC37A7P 0 genome.wustl.edu 37 18 29306367 29306367 + RNA SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 18 29306367 29306367 G T SNP LRRC37A7P ENST00000583900 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors LRRC37A7P HGNC ENSG00000265158 13 0 0 7 5 41.6667 KLHL14 0 genome.wustl.edu 37 18 30350328 30350328 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 18 30350328 30350328 T C SNP KLHL14 ENST00000359358 human ensembl 74_37 -1 known missense c.227 p.D76G 1.000 superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL14 HGNC ENSG00000197705 34 0 0 30 10 25 ASXL3 0 genome.wustl.edu 37 18 31325872 31325872 + Silent SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 18 31325872 31325872 A G SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known silent c.6060 p.P2020 0.024 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 48 0 0 14 11 44 CELF4 0 genome.wustl.edu 37 18 34854462 34854462 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 18 34854462 34854462 C T SNP CELF4 ENST00000590112 human ensembl 74_37 -1 known silent c.561 p.A187 0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF4 HGNC ENSG00000101489 80 0 0 62 12 16.2162 ST8SIA5 0 genome.wustl.edu 37 18 44336400 44336400 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 18 44336400 44336400 G A SNP ST8SIA5 ENST00000315087 human ensembl 74_37 -1 known silent c.72 p.C24 1.000 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA5 HGNC ENSG00000101638 93 0 0 72 39 35.1351 MRO 0 genome.wustl.edu 37 18 48331614 48331614 + Silent SNP A A C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 18 48331614 48331614 A C SNP MRO ENST00000436348 human ensembl 74_37 -1 known silent c.381 p.T127 0.246 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MRO HGNC ENSG00000134042 127 0 0 79 31 28.1818 ALPK2 0 genome.wustl.edu 37 18 56203904 56203904 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 18 56203904 56203904 G A SNP ALPK2 ENST00000361673 human ensembl 74_37 -1 known missense c.3515 p.T1172M 0.000 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK2 HGNC ENSG00000198796 151 0 0 108 42 28 ZNF532 0 genome.wustl.edu 37 18 56586448 56586448 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 18 56586448 56586448 C T SNP ZNF532 ENST00000336078 human ensembl 74_37 +1 known missense c.929 p.A310V 0.106 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF532 HGNC ENSG00000074657 182 0 0 109 33 23.2394 SERPINB13 0 genome.wustl.edu 37 18 61260183 61260183 + Silent SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 18 61260183 61260183 C A SNP SERPINB13 ENST00000344731 human ensembl 74_37 +1 known silent c.450 p.S150 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB13 HGNC ENSG00000197641 88 0 0 73 17 18.8889 DOK6 0 genome.wustl.edu 37 18 67425053 67425053 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 18 67425053 67425053 C T SNP DOK6 ENST00000382713 human ensembl 74_37 +1 known missense c.800 p.A267V 0.997 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK6 HGNC ENSG00000206052 117 0 0 52 24 31.5789 RTTN 0 genome.wustl.edu 37 18 67813014 67813014 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 18 67813014 67813014 C T SNP RTTN ENST00000255674 human ensembl 74_37 -1 known missense c.2315 p.R772H 0.751 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 99 0 0 66 20 23.2558 RTTN 0 genome.wustl.edu 37 18 67817853 67817853 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 18 67817853 67817853 G A SNP RTTN ENST00000255674 human ensembl 74_37 -1 known silent c.2046 p.P682 0.278 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 112 0 0 65 20 23.5294 ARHGAP28 0 genome.wustl.edu 37 18 6876205 6876205 + Nonsense_Mutation SNP A A T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 18 6876205 6876205 A T SNP ARHGAP28 ENST00000400091 human ensembl 74_37 +1 known nonsense c.1288 p.K430* 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP28 HGNC ENSG00000088756 48 0 0 23 14 37.8378 ZNF236 0 genome.wustl.edu 37 18 74637264 74637264 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 18 74637264 74637264 C T SNP ZNF236 ENST00000253159 human ensembl 74_37 +1 known missense c.3775 p.R1259C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 84 0 0 61 34 35.7895 PARD6G 0 genome.wustl.edu 37 18 77917966 77917966 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 18 77917966 77917966 G A SNP PARD6G ENST00000353265 human ensembl 74_37 -1 known silent c.819 p.T273 0.066 NULL pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ - no_errors PARD6G HGNC ENSG00000178184 32 0 0 27 14 34.1463 SOGA2 0 genome.wustl.edu 37 18 8783624 8783624 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 18 8783624 8783624 G A SNP SOGA2 ENST00000359865 human ensembl 74_37 +1 known missense c.514 p.E172K 0.967 pfam_SOGA pfam_SOGA - no_errors SOGA2 HGNC ENSG00000168502 31 0 0 26 13 33.3333 SOGA2 0 genome.wustl.edu 37 18 8784564 8784564 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 18 8784564 8784564 G A SNP SOGA2 ENST00000359865 human ensembl 74_37 +1 known missense c.1454 p.R485Q 0.024 NULL pfam_SOGA - no_errors SOGA2 HGNC ENSG00000168502 150 0 0 99 40 28.777 C3P1 0 genome.wustl.edu 37 19 10166319 10166319 + RNA SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 10166319 10166319 C T SNP C3P1 ENST00000495140 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors C3P1 HGNC ENSG00000167798 208 0 0 166 28 14.433 C19orf66 0 genome.wustl.edu 37 19 10200691 10200691 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 10200691 10200691 G A SNP C19orf66 ENST00000253110 human ensembl 74_37 +1 known missense c.352 p.V118I 0.997 NULL NULL - no_errors C19orf66 HGNC ENSG00000130813 23 0 0 20 4 16.6667 TYK2 0 genome.wustl.edu 37 19 10461637 10461637 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 10461637 10461637 T C SNP TYK2 ENST00000264818 human ensembl 74_37 -1 known missense c.3437 p.H1146R 0.000 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,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N - no_errors TYK2 HGNC ENSG00000105397 96 0 0 95 9 8.65385 SMARCA4 0 genome.wustl.edu 37 19 11145661 11145661 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 11145661 11145661 C T SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known silent c.4023 p.D1341 0.678 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 15 0 0 18 6 25 ZNF700 0 genome.wustl.edu 37 19 12061033 12061033 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 12061033 12061033 T C SNP ZNF700 ENST00000254321 human ensembl 74_37 +1 known missense c.2194 p.Y732H 0.350 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 ZNF700 HGNC ENSG00000196757 78 0 0 21 17 44.7368 ZNF433 0 genome.wustl.edu 37 19 12127030 12127030 + Nonsense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 12127030 12127030 G A SNP ZNF433 ENST00000344980 human ensembl 74_37 -1 known nonsense c.652 p.R218* 0.431 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 ZNF433 HGNC ENSG00000197647 87 0 0 37 15 28.8462 JUNB 0 genome.wustl.edu 37 19 12902621 12902621 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 12902621 12902621 C T SNP JUNB ENST00000302754 human ensembl 74_37 +1 known silent c.36 p.D12 1.000 pfam_JNK pfam_JNK,pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun - no_errors JUNB HGNC ENSG00000171223 32 0 0 27 7 20.5882 NACC1 0 genome.wustl.edu 37 19 13246114 13246114 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 13246114 13246114 C T SNP NACC1 ENST00000292431 human ensembl 74_37 +1 known silent c.93 p.D31 0.983 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_BEN_domain,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors NACC1 HGNC ENSG00000160877 101 0 0 65 25 27.7778 ZSWIM4 0 genome.wustl.edu 37 19 13941323 13941323 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 13941323 13941323 G A SNP ZSWIM4 ENST00000254323 human ensembl 74_37 +1 known missense c.2429 p.R810H 0.989 NULL pfscan_Znf_SWIM - no_errors ZSWIM4 HGNC ENSG00000132003 126 0 0 118 44 27.1605 NDUFS7 0 genome.wustl.edu 37 19 1395407 1395407 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 1395407 1395407 G A SNP NDUFS7 ENST00000233627 human ensembl 74_37 +1 known missense c.562 p.E188K 1.000 pfam_NADH_UbQ_OxRdtase-like_20kDa,tigrfam_NADH_UQ_OxRdtase_20Kd_su pfam_NADH_UbQ_OxRdtase-like_20kDa,tigrfam_NADH_UQ_OxRdtase_20Kd_su - no_errors NDUFS7 HGNC ENSG00000115286 9 0 0 4 7 63.6364 PODNL1 0 genome.wustl.edu 37 19 14044132 14044132 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 14044132 14044132 C T SNP PODNL1 ENST00000339560 human ensembl 74_37 -1 known missense c.925 p.G309R 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors PODNL1 HGNC ENSG00000132000 20 0 0 13 5 27.7778 SAMD1 0 genome.wustl.edu 37 19 14199317 14199317 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 14199317 14199317 C A SNP SAMD1 ENST00000533683 human ensembl 74_37 -1 novel missense c.1211 p.G404V 1.000 pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD1 HGNC ENSG00000141858 75 0 0 58 28 32.5581 EMR2 0 genome.wustl.edu 37 19 14865776 14865776 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 14865776 14865776 T C SNP EMR2 ENST00000315576 human ensembl 74_37 -1 known missense c.1580 p.Y527C 0.000 smart_GPS_dom,pfscan_GPS_dom,prints_GPCR_2_CD97 pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR2 HGNC ENSG00000127507 132 0 0 109 16 12.8 EPHX3 0 genome.wustl.edu 37 19 15342847 15342847 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 15342847 15342847 C T SNP EPHX3 ENST00000221730 human ensembl 74_37 -1 known missense c.176 p.R59H 0.896 NULL pfam_AB_hydrolase_1,prints_Epox_hydrolase-like,prints_AB_hydrolase_1 - no_errors EPHX3 HGNC ENSG00000105131 23 0 0 17 7 29.1667 BRD4 0 genome.wustl.edu 37 19 15364530 15364530 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 15364530 15364530 G A SNP BRD4 ENST00000360016 human ensembl 74_37 -1 known silent c.2223 p.C741 0.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD4 HGNC ENSG00000141867 75 0 0 46 16 25.8065 PGLYRP2 0 genome.wustl.edu 37 19 15580564 15580564 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 15580564 15580564 G A SNP PGLYRP2 ENST00000292609 human ensembl 74_37 -1 known missense c.1520 p.A507V 0.978 pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain - no_errors PGLYRP2 HGNC ENSG00000161031 14 0 0 11 3 21.4286 CALR3 0 genome.wustl.edu 37 19 16595981 16595981 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 16595981 16595981 C T SNP CALR3 ENST00000269881 human ensembl 74_37 -1 known missense c.485 p.R162K 0.856 pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,pirsf_Calreticulin pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,pirsf_Calreticulin,prints_Calret/calnex - no_errors CALR3 HGNC ENSG00000269058 34 0 0 26 5 16.129 MED26 0 genome.wustl.edu 37 19 16687442 16687442 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 16687442 16687442 C T SNP MED26 ENST00000263390 human ensembl 74_37 -1 known missense c.1199 p.R400Q 0.687 NULL pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors MED26 HGNC ENSG00000105085 48 0 0 35 17 32.6923 TMEM38A 0 genome.wustl.edu 37 19 16790893 16790893 + Nonsense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 16790893 16790893 G T SNP TMEM38A ENST00000187762 human ensembl 74_37 +1 known nonsense c.223 p.E75* 1.000 pfam_TRIC_channel pfam_TRIC_channel - no_errors TMEM38A HGNC ENSG00000072954 79 0 0 50 24 32.4324 ANKLE1 0 genome.wustl.edu 37 19 17396288 17396288 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 17396288 17396288 G A SNP ANKLE1 ENST00000394458 human ensembl 74_37 +1 known silent c.1425 p.E475 0.908 NULL pfam_Ankyrin_rpt,pfam_LEM_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_LEM/LEM-like_dom,superfamily_Lactate_DH/Glyco_Ohase_4_C,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_LEM_dom - no_errors ANKLE1 HGNC ENSG00000160117 281 0 0 248 27 9.81818 COLGALT1 0 genome.wustl.edu 37 19 17679430 17679430 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 17679430 17679430 C T SNP COLGALT1 ENST00000252599 human ensembl 74_37 +1 known missense c.737 p.A246V 0.991 NULL pfam_Glyco_trans_25 - no_errors COLGALT1 HGNC ENSG00000130309 103 0 0 89 38 29.9213 UNC13A 0 genome.wustl.edu 37 19 17756598 17756598 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 17756598 17756598 G A SNP UNC13A ENST00000428389 human ensembl 74_37 -1 known silent c.2505 p.D835 0.989 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 38 0 0 35 8 18.6047 ATP8B3 0 genome.wustl.edu 37 19 1789491 1789491 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 1789491 1789491 T C SNP ATP8B3 ENST00000539485 human ensembl 74_37 -1 known missense c.2744 p.K915R 0.000 superfamily_HAD-like_dom pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B3 HGNC ENSG00000130270 36 0 0 18 7 28 CRTC1 0 genome.wustl.edu 37 19 18876267 18876267 + Missense_Mutation SNP C C G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 18876267 18876267 C G SNP CRTC1 ENST00000338797 human ensembl 74_37 +1 known missense c.988 p.L330V 0.998 NULL NULL - no_errors CRTC1 HGNC ENSG00000105662 220 0 0 161 73 31.1966 CRTC1 0 genome.wustl.edu 37 19 18888054 18888054 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 18888054 18888054 C T SNP CRTC1 ENST00000338797 human ensembl 74_37 +1 known silent c.1815 p.F605 0.916 NULL NULL - no_errors CRTC1 HGNC ENSG00000105662 389 0 0 267 116 30.2872 SCAMP4 0 genome.wustl.edu 37 19 1918180 1918180 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 1918180 1918180 G A SNP SCAMP4 ENST00000316097 human ensembl 74_37 +1 known missense c.191 p.G64D 0.334 pfam_SCAMP pfam_SCAMP - no_errors SCAMP4 HGNC ENSG00000227500 61 0 0 47 16 25.3968 SLC25A42 0 genome.wustl.edu 37 19 19218784 19218784 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 19218784 19218784 C T SNP SLC25A42 ENST00000318596 human ensembl 74_37 +1 known silent c.579 p.T193 0.064 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC - no_errors SLC25A42 HGNC ENSG00000181035 128 0 0 100 39 28.0576 CILP2 0 genome.wustl.edu 37 19 19655029 19655029 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 19655029 19655029 C A SNP CILP2 ENST00000291495 human ensembl 74_37 +1 known missense c.1675 p.P559T 0.307 NULL pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors CILP2 HGNC ENSG00000160161 172 1 0.578035 129 42 24.5614 ZNF14 0 genome.wustl.edu 37 19 19823270 19823270 + Missense_Mutation SNP T T A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 19823270 19823270 T A SNP ZNF14 ENST00000344099 human ensembl 74_37 -1 known missense c.820 p.T274S 1.000 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 ZNF14 HGNC ENSG00000105708 63 0 0 58 6 9.375 ENSG00000267268 0 genome.wustl.edu 37 19 20067568 20067568 + RNA SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 20067568 20067568 G A SNP ENSG00000267268 ENST00000592245 human ensembl 74_37 +1 known rna NULL NULL 0.014 - - - no_errors AC007204.2 Clone_based_vega_gene ENSG00000267268 48 0 0 31 9 22.5 ZNF430 0 genome.wustl.edu 37 19 21240479 21240479 + Silent SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 21240479 21240479 A G SNP ZNF430 ENST00000261560 human ensembl 74_37 +1 known silent c.1365 p.K455 0.998 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF430 HGNC ENSG00000118620 50 0 0 32 9 21.9512 LOC641367 0 genome.wustl.edu 37 19 21934392 21934392 + RNA SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 21934392 21934392 A G SNP LOC641367 ENST00000596710 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-420K14.6 Clone_based_vega_gene ENSG00000269845 55 0 0 27 7 20.5882 ZNF43 0 genome.wustl.edu 37 19 21992322 21992322 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 21992322 21992322 G T SNP ZNF43 ENST00000354959 human ensembl 74_37 -1 known missense c.517 p.L173I 0.102 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF43 HGNC ENSG00000198521 32 0 0 21 12 36.3636 DOT1L 0 genome.wustl.edu 37 19 2226315 2226315 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 2226315 2226315 C T SNP DOT1L ENST00000398665 human ensembl 74_37 +1 known silent c.3795 p.S1265 0.001 pirsf_Histone_H3-K79_MeTrfase_met pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met - no_errors DOT1L HGNC ENSG00000104885 28 0 0 19 5 20.8333 ZNF729 0 genome.wustl.edu 37 19 22497926 22497926 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 22497926 22497926 G A SNP ZNF729 ENST00000601693 human ensembl 74_37 +1 novel silent c.1707 p.E569 1.000 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 ZNF729 HGNC ENSG00000196350 24 0 0 16 4 20 JSRP1 0 genome.wustl.edu 37 19 2255261 2255261 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 2255261 2255261 C T SNP JSRP1 ENST00000300961 human ensembl 74_37 -1 known missense c.53 p.C18Y 0.933 NULL NULL - no_errors JSRP1 HGNC ENSG00000167476 40 0 0 34 16 32 ZNF724P 0 genome.wustl.edu 37 19 23405833 23405833 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 23405833 23405833 G A SNP ZNF724P ENST00000418100 human ensembl 74_37 -1 novel missense c.1214 p.T405I 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 ZNF724P HGNC ENSG00000196081 35 0 0 13 7 35 TMPRSS9 0 genome.wustl.edu 37 19 2405448 2405448 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 2405448 2405448 G A SNP TMPRSS9 ENST00000332578 human ensembl 74_37 +1 known silent c.645 p.P215 0.081 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors TMPRSS9 HGNC ENSG00000178297 125 0 0 120 21 14.8936 ZNF254 0 genome.wustl.edu 37 19 24309953 24309953 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 24309953 24309953 G A SNP ZNF254 ENST00000357002 human ensembl 74_37 +1 known missense c.1151 p.G384D 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF254 HGNC ENSG00000213096 37 0 0 23 12 34.2857 C19orf12 0 genome.wustl.edu 37 19 30193764 30193764 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 30193764 30193764 G A SNP C19orf12 ENST00000392278 human ensembl 74_37 -1 known missense c.314 p.A105V 0.982 NULL NULL - no_errors C19orf12 HGNC ENSG00000131943 135 0 0 105 25 19.2308 TSHZ3 0 genome.wustl.edu 37 19 31769082 31769082 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 31769082 31769082 G A SNP TSHZ3 ENST00000240587 human ensembl 74_37 -1 known silent c.1617 p.N539 0.959 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 212 0 0 128 47 26.8571 NFIC 0 genome.wustl.edu 37 19 3381902 3381902 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 3381902 3381902 C T SNP NFIC ENST00000443272 human ensembl 74_37 +1 known missense c.223 p.R75W 1.000 pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIC HGNC ENSG00000141905 165 0 0 104 59 36.1963 PEPD 0 genome.wustl.edu 37 19 33980942 33980942 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 33980942 33980942 C T SNP PEPD ENST00000244137 human ensembl 74_37 -1 known missense c.463 p.G155S 0.995 NULL pfam_Pept_M24_structural-domain,pfam_Aminopep_P_N,superfamily_Pept_M24_structural-domain - no_errors PEPD HGNC ENSG00000124299 25 0 0 24 7 22.5806 UBA2 0 genome.wustl.edu 37 19 34934770 34934770 + Silent SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 34934770 34934770 T C SNP UBA2 ENST00000246548 human ensembl 74_37 +1 known silent c.603 p.D201 1.000 superfamily_Molybdenum_cofac_synth_MoeB pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB - no_errors UBA2 HGNC ENSG00000126261 123 0 0 55 21 27.6316 GRAMD1A 0 genome.wustl.edu 37 19 35517005 35517005 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 35517005 35517005 C T SNP GRAMD1A ENST00000317991 human ensembl 74_37 +1 known missense c.2135 p.P712L 0.998 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1A HGNC ENSG00000089351 79 0 0 57 19 25 FFAR2 0 genome.wustl.edu 37 19 35941299 35941299 + Missense_Mutation SNP T T G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 35941299 35941299 T G SNP FFAR2 ENST00000246549 human ensembl 74_37 +1 known missense c.683 p.L228R 0.993 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_orph - no_errors FFAR2 HGNC ENSG00000126262 127 0 0 107 33 23.5714 ATP4A 0 genome.wustl.edu 37 19 36050092 36050092 + Missense_Mutation SNP A A C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 36050092 36050092 A C SNP ATP4A ENST00000262623 human ensembl 74_37 -1 known missense c.1058 p.V353G 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP4A HGNC ENSG00000105675 198 0 0 171 33 16.1765 KMT2B 0 genome.wustl.edu 37 19 36211209 36211209 + Silent SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 36211209 36211209 C A SNP KMT2B ENST00000222270 human ensembl 74_37 +1 known silent c.960 p.S320 1.000 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 29 0 0 14 7 33.3333 KMT2B 0 genome.wustl.edu 37 19 36228041 36228041 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 36228041 36228041 C T SNP KMT2B ENST00000222270 human ensembl 74_37 +1 known missense c.7427 p.A2476V 1.000 pirsf_MeTrfase_trithorax,pfam_FYrich_C,smart_FYrich_C pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 13 0 0 20 3 13.0435 PRODH2 0 genome.wustl.edu 37 19 36297674 36297674 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 36297674 36297674 G T SNP PRODH2 ENST00000301175 human ensembl 74_37 -1 known missense c.965 p.P322H 0.995 pfam_Proline_DH pfam_Proline_DH - no_errors PRODH2 HGNC ENSG00000250799 41 0 0 24 11 31.4286 SIPA1L3 0 genome.wustl.edu 37 19 38572874 38572874 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 38572874 38572874 C T SNP SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known silent c.669 p.N223 0.440 NULL pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L3 HGNC ENSG00000105738 97 0 0 97 25 20.4918 SIPA1L3 0 genome.wustl.edu 37 19 38684402 38684402 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 38684402 38684402 G A SNP SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known missense c.4822 p.G1608S 0.786 pfam_DUF3401 pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L3 HGNC ENSG00000105738 17 0 0 11 6 35.2941 SPINT2 0 genome.wustl.edu 37 19 38778555 38778555 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 38778555 38778555 C T SNP SPINT2 ENST00000301244 human ensembl 74_37 +1 known missense c.317 p.A106V 0.033 NULL pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors SPINT2 HGNC ENSG00000167642 217 0 0 145 42 22.4599 GGN 0 genome.wustl.edu 37 19 38876364 38876364 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 38876364 38876364 G A SNP GGN ENST00000334928 human ensembl 74_37 -1 known missense c.1538 p.A513V 0.026 NULL NULL - no_errors GGN HGNC ENSG00000179168 38 0 0 32 4 11.1111 FAM98C 0 genome.wustl.edu 37 19 38899406 38899406 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 38899406 38899406 G A SNP FAM98C ENST00000252530 human ensembl 74_37 +1 known missense c.934 p.V312I 0.993 pfam_Uncharacterised_FAM98 pfam_Uncharacterised_FAM98 - no_errors FAM98C HGNC ENSG00000130244 116 0 0 69 41 37.2727 RYR1 0 genome.wustl.edu 37 19 39018309 39018309 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 39018309 39018309 G A SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.10709 p.R3570H 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 45 0 0 33 14 29.7872 DAPK3 0 genome.wustl.edu 37 19 3959164 3959164 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 3959164 3959164 C T SNP DAPK3 ENST00000301264 human ensembl 74_37 -1 known missense c.1300 p.V434M 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,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 - no_errors DAPK3 HGNC ENSG00000167657 16 0 0 9 7 43.75 MED29 0 genome.wustl.edu 37 19 39882043 39882043 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 39882043 39882043 C T SNP MED29 ENST00000315588 human ensembl 74_37 +1 known missense c.44 p.P15L 0.992 NULL pfam_Mediator_Med29_met - no_errors MED29 HGNC ENSG00000063322 44 0 0 27 11 28.9474 PIAS4 0 genome.wustl.edu 37 19 4013167 4013167 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 4013167 4013167 C T SNP PIAS4 ENST00000262971 human ensembl 74_37 +1 known missense c.274 p.R92W 0.997 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS4 HGNC ENSG00000105229 134 0 0 110 35 24.1379 FCGBP 0 genome.wustl.edu 37 19 40398294 40398294 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 40398294 40398294 C T SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.6673 p.V2225M 0.003 smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 41 0 0 24 7 22.5806 FCGBP 0 genome.wustl.edu 37 19 40433949 40433949 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 40433949 40433949 G A SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.320 p.A107V 0.928 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 132 0 0 95 24 20.1681 PRX 0 genome.wustl.edu 37 19 40901573 40901573 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 40901573 40901573 A G SNP PRX ENST00000324001 human ensembl 74_37 -1 known missense c.2686 p.F896L 0.151 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC ENSG00000105227 152 0 0 120 26 17.8082 CYP2A7 0 genome.wustl.edu 37 19 41383195 41383195 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 41383195 41383195 G A SNP CYP2A7 ENST00000301146 human ensembl 74_37 -1 known missense c.1061 p.A354V 0.997 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2B-like - no_errors CYP2A7 HGNC ENSG00000198077 126 0 0 106 33 23.741 CCDC97 0 genome.wustl.edu 37 19 41822577 41822577 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 41822577 41822577 G A SNP CCDC97 ENST00000269967 human ensembl 74_37 +1 known missense c.335 p.R112H 0.997 NULL pfam_DUF2052_coiled-coil - no_errors CCDC97 HGNC ENSG00000142039 68 0 0 52 16 23.5294 CCDC97 0 genome.wustl.edu 37 19 41825583 41825583 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 41825583 41825583 C A SNP CCDC97 ENST00000269967 human ensembl 74_37 +1 known missense c.607 p.P203T 0.648 pfam_DUF2052_coiled-coil pfam_DUF2052_coiled-coil - no_errors CCDC97 HGNC ENSG00000142039 156 0 0 112 46 29.1139 CEACAM3 0 genome.wustl.edu 37 19 42301803 42301803 + Missense_Mutation SNP A A C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 42301803 42301803 A C SNP CEACAM3 ENST00000357396 human ensembl 74_37 +1 known missense c.347 p.D116A 0.020 pfam_Ig_V-set pfam_Ig_V-set - no_errors CEACAM3 HGNC ENSG00000170956 389 0 0 246 77 23.839 CD79A 0 genome.wustl.edu 37 19 42383115 42383115 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 42383115 42383115 C T SNP CD79A ENST00000221972 human ensembl 74_37 +1 known silent c.135 p.S45 0.000 pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,pfam_Phos_immunorcpt_sig_ITAM,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM,pfscan_Ig-like_dom - no_errors CD79A HGNC ENSG00000105369 72 0 0 47 23 32.8571 ARHGEF1 0 genome.wustl.edu 37 19 42406803 42406803 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 42406803 42406803 G A SNP ARHGEF1 ENST00000337665 human ensembl 74_37 +1 known missense c.1663 p.V555M 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RGS-like_dom,pfam_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF1 HGNC ENSG00000076928 70 0 0 50 24 32.4324 ATP1A3 0 genome.wustl.edu 37 19 42482399 42482399 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 42482399 42482399 C T SNP ATP1A3 ENST00000302102 human ensembl 74_37 -1 known silent c.1710 p.T570 0.019 pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A3 HGNC ENSG00000105409 36 0 0 24 5 17.2414 PSG6 0 genome.wustl.edu 37 19 43420541 43420541 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 43420541 43420541 C T SNP PSG6 ENST00000292125 human ensembl 74_37 -1 known missense c.163 p.V55I 0.001 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG6 HGNC ENSG00000170848 345 0 0 242 75 23.6593 PSG2 0 genome.wustl.edu 37 19 43579535 43579535 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 43579535 43579535 C T SNP PSG2 ENST00000406487 human ensembl 74_37 -1 known missense c.680 p.R227H 0.010 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG2 HGNC ENSG00000242221 542 0 0 392 109 21.7565 ZNF224 0 genome.wustl.edu 37 19 44611445 44611445 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 44611445 44611445 G A SNP ZNF224 ENST00000336976 human ensembl 74_37 +1 known missense c.1132 p.G378R 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF224 HGNC ENSG00000267680 124 0 0 80 36 31.0345 HDGFRP2 0 genome.wustl.edu 37 19 4498835 4498835 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 4498835 4498835 C A SNP HDGFRP2 ENST00000301284 human ensembl 74_37 +1 known missense c.1498 p.L500I 0.350 pfam_LEDGF pfam_LEDGF,pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom - no_errors HDGFRP2 Uniprot_gn ENSG00000167674 34 0 0 16 7 30.4348 PPM1N 0 genome.wustl.edu 37 19 46002428 46002428 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 46002428 46002428 T C SNP PPM1N ENST00000451287 human ensembl 74_37 +1 known missense c.698 p.L233S 0.986 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,pfam_PP2C_C,superfamily_PP2C-like_dom,superfamily_PP2C_C,smart_PP2C-like_dom - no_errors PPM1N HGNC ENSG00000213889 48 0 0 34 14 29.1667 DMPK 0 genome.wustl.edu 37 19 46274895 46274895 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 46274895 46274895 G A SNP DMPK ENST00000343373 human ensembl 74_37 -1 known missense c.1561 p.R521W 0.598 pfam_Myotonic_dystrophy_kinase_coil pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors DMPK HGNC ENSG00000104936 66 0 0 47 8 14.5455 PTGIR 0 genome.wustl.edu 37 19 47127183 47127183 + Silent SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 47127183 47127183 G T SNP PTGIR ENST00000291294 human ensembl 74_37 -1 known silent c.300 p.T100 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prostanoid_rcpt,prints_Thbox_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_IP_rcpt,prints_Prostanoid_rcpt,prints_Thbox_rcpt - no_errors PTGIR HGNC ENSG00000160013 21 0 0 12 5 29.4118 PRKD2 0 genome.wustl.edu 37 19 47201052 47201052 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 47201052 47201052 G A SNP PRKD2 ENST00000291281 human ensembl 74_37 -1 known missense c.1177 p.R393W 0.814 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD2 HGNC ENSG00000105287 175 0 0 133 50 27.3224 SLC8A2 0 genome.wustl.edu 37 19 47960734 47960734 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 47960734 47960734 G A SNP SLC8A2 ENST00000236877 human ensembl 74_37 -1 known missense c.793 p.R265C 1.000 tigrfam_Na_Ca_Ex pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A2 HGNC ENSG00000118160 28 0 0 17 10 37.037 GLTSCR1 0 genome.wustl.edu 37 19 48183378 48183378 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 48183378 48183378 C T SNP GLTSCR1 ENST00000396720 human ensembl 74_37 +1 known silent c.951 p.T317 0.001 NULL NULL - no_errors GLTSCR1 HGNC ENSG00000063169 11 0 0 8 4 33.3333 ZNF114 0 genome.wustl.edu 37 19 48789695 48789695 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 48789695 48789695 G A SNP ZNF114 ENST00000315849 human ensembl 74_37 +1 known missense c.814 p.A272T 0.000 NULL pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF114 HGNC ENSG00000178150 110 0 0 79 34 30.0885 KDELR1 0 genome.wustl.edu 37 19 48892969 48892969 + Splice_Site SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 48892969 48892969 C T SNP KDELR1 ENST00000330720 human ensembl 74_37 -1 known splice_site c.193-1 e3-1 1.000 - - - no_errors KDELR1 HGNC ENSG00000105438 73 0 0 48 17 26.1538 RPL18 0 genome.wustl.edu 37 19 49120017 49120017 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 49120017 49120017 T C SNP RPL18 ENST00000549920 human ensembl 74_37 -1 known missense c.263 p.D88G 1.000 pfam_Ribosomal_L18e/L15P,superfamily_Ribosomal_L18e/L15P pfam_Ribosomal_L18e/L15P,superfamily_Ribosomal_L18e/L15P - no_errors RPL18 HGNC ENSG00000063177 167 0 0 100 41 29.078 SEC1P 0 genome.wustl.edu 37 19 49184153 49184153 + RNA SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 49184153 49184153 C T SNP SEC1P ENST00000430145 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors SEC1P HGNC ENSG00000232871 20 0 0 10 5 33.3333 PPFIA3 0 genome.wustl.edu 37 19 49631308 49631308 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 49631308 49631308 C T SNP PPFIA3 ENST00000334186 human ensembl 74_37 +1 known silent c.178 p.L60 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA3 HGNC ENSG00000177380 25 0 0 30 8 21.0526 FLT3LG 0 genome.wustl.edu 37 19 49979372 49979372 + Splice_Site SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 49979372 49979372 A G SNP FLT3LG ENST00000600084 human ensembl 74_37 +1 known splice_site c.145-2 e3-2 0.002 - - - no_errors FLT3LG HGNC ENSG00000090554 288 0 0 203 50 19.7628 PTOV1 0 genome.wustl.edu 37 19 50361197 50361197 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 50361197 50361197 C T SNP PTOV1 ENST00000391842 human ensembl 74_37 +1 known silent c.841 p.L281 1.000 pfam_Mediator_Med25 pfam_Mediator_Med25 - no_errors PTOV1 HGNC ENSG00000104960 84 0 0 77 25 24.5098 NUP62 0 genome.wustl.edu 37 19 50412227 50412227 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 50412227 50412227 T C SNP NUP62 ENST00000352066 human ensembl 74_37 -1 known missense c.838 p.T280A 0.000 NULL pfam_Nucleoporin_NSP1_C - no_errors NUP62 HGNC ENSG00000213024 82 0 0 55 20 26.6667 NUP62 0 genome.wustl.edu 37 19 50412228 50412228 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 50412228 50412228 G A SNP NUP62 ENST00000352066 human ensembl 74_37 -1 known silent c.837 p.A279 0.000 NULL pfam_Nucleoporin_NSP1_C - no_errors NUP62 HGNC ENSG00000213024 84 0 0 55 20 26.6667 VRK3 0 genome.wustl.edu 37 19 50512565 50512565 + Nonsense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 50512565 50512565 G A SNP VRK3 ENST00000316763 human ensembl 74_37 -1 known nonsense c.217 p.R73* 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors VRK3 HGNC ENSG00000105053 253 1 0.393701 162 47 22.488 POLD1 0 genome.wustl.edu 37 19 50905959 50905959 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 50905959 50905959 C T SNP POLD1 ENST00000440232 human ensembl 74_37 +1 known missense c.931 p.R311C 1.000 pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLD1 HGNC ENSG00000062822 25 0 0 16 13 44.8276 MYBPC2 0 genome.wustl.edu 37 19 50954194 50954194 + Splice_Site SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 50954194 50954194 T C SNP MYBPC2 ENST00000357701 human ensembl 74_37 +1 known splice_site c.1579+2 e14+2 0.994 - - - no_errors MYBPC2 HGNC ENSG00000086967 10 0 0 4 3 42.8571 KLK4 0 genome.wustl.edu 37 19 51412062 51412062 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 51412062 51412062 A G SNP KLK4 ENST00000324041 human ensembl 74_37 -1 known missense c.248 p.L83P 0.295 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK4 HGNC ENSG00000167749 93 0 0 71 13 15.4762 KLK13 0 genome.wustl.edu 37 19 51561889 51561889 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 51561889 51561889 C T SNP KLK13 ENST00000595793 human ensembl 74_37 -1 known missense c.551 p.R184H 0.972 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK13 HGNC ENSG00000167759 248 0 0 167 53 24.0909 SIGLEC6 0 genome.wustl.edu 37 19 52023335 52023335 + RNA SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 52023335 52023335 C A SNP SIGLEC6 ENST00000474054 human ensembl 74_37 -1 known rna NULL NULL 0.095 - - - no_errors SIGLEC6 HGNC ENSG00000105492 143 0 0 89 33 27.0492 HAS1 0 genome.wustl.edu 37 19 52216727 52216727 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 52216727 52216727 G A SNP HAS1 ENST00000601714 human ensembl 74_37 -1 known missense c.1711 p.R571W 1.000 NULL pfam_Chitin_synth_fng,pfam_Glyco_trans_2 - no_errors HAS1 HGNC ENSG00000105509 17 0 0 27 5 15.625 FPR1 0 genome.wustl.edu 37 19 52249490 52249490 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 52249490 52249490 C T SNP FPR1 ENST00000304748 human ensembl 74_37 -1 known missense c.758 p.C253Y 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt - no_errors FPR1 HGNC ENSG00000171051 66 0 0 48 17 26.1538 PTPRS 0 genome.wustl.edu 37 19 5244257 5244257 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 5244257 5244257 C T SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known missense c.1228 p.G410S 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 64 0 0 74 31 29.5238 ZNF836 0 genome.wustl.edu 37 19 52660033 52660033 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 52660033 52660033 C T SNP ZNF836 ENST00000322146 human ensembl 74_37 -1 known silent c.903 p.P301 0.147 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 ZNF836 HGNC ENSG00000196267 69 0 0 38 15 28.3019 ZNF347 0 genome.wustl.edu 37 19 53645115 53645115 + Nonsense_Mutation SNP A A T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 53645115 53645115 A T SNP ZNF347 ENST00000452676 human ensembl 74_37 -1 known nonsense c.969 p.C323* 0.984 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 ZNF347 HGNC ENSG00000197937 175 0 0 111 6 5.12821 ZNF331 0 genome.wustl.edu 37 19 54081131 54081131 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 54081131 54081131 C T SNP ZNF331 ENST00000253144 human ensembl 74_37 +1 known silent c.1317 p.Y439 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF331 HGNC ENSG00000130844 67 0 0 49 17 25.7576 CACNG7 0 genome.wustl.edu 37 19 54418710 54418710 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 54418710 54418710 G A SNP CACNG7 ENST00000222212 human ensembl 74_37 +1 known silent c.375 p.P125 0.046 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g7su,prints_VDCC_gsu - no_errors CACNG7 HGNC ENSG00000105605 91 0 0 54 20 27.027 CACNG7 0 genome.wustl.edu 37 19 54444871 54444871 + Splice_Site SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 54444871 54444871 T C SNP CACNG7 ENST00000222212 human ensembl 74_37 +1 known splice_site c.570+2 e4+2 1.000 - - - no_errors CACNG7 HGNC ENSG00000105605 154 0 0 108 37 25.5172 LENG1 0 genome.wustl.edu 37 19 54660546 54660546 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 54660546 54660546 C T SNP LENG1 ENST00000222224 human ensembl 74_37 -1 known missense c.530 p.R177H 0.000 NULL NULL - no_errors LENG1 HGNC ENSG00000105617 149 0 0 105 31 22.7941 MBOAT7 0 genome.wustl.edu 37 19 54677813 54677813 + Silent SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 54677813 54677813 A G SNP MBOAT7 ENST00000245615 human ensembl 74_37 -1 known silent c.1344 p.G448 0.284 NULL pfam_MBOAT_fam - no_errors MBOAT7 HGNC ENSG00000125505 75 0 0 48 12 20 LILRA6 0 genome.wustl.edu 37 19 54744364 54744364 + Silent SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 54744364 54744364 C A SNP LILRA6 ENST00000419410 human ensembl 74_37 -1 known silent c.1044 p.R348 0.000 smart_Ig_sub,smart_Ig_sub2 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRA6 HGNC ENSG00000244482 181 0 0 141 22 13.4969 TTYH1 0 genome.wustl.edu 37 19 54947281 54947281 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 54947281 54947281 G A SNP TTYH1 ENST00000376531 human ensembl 74_37 +1 known missense c.1279 p.A427T 1.000 NULL pfam_Tweety - no_errors TTYH1 HGNC ENSG00000167614 309 0 0 230 54 19.0141 NLRP7 0 genome.wustl.edu 37 19 55451098 55451098 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 55451098 55451098 G A SNP NLRP7 ENST00000446217 human ensembl 74_37 -1 known silent c.1173 p.P391 0.393 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP7 HGNC ENSG00000167634 91 0 0 62 6 8.82353 EPS8L1 0 genome.wustl.edu 37 19 55597445 55597445 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 55597445 55597445 G A SNP EPS8L1 ENST00000201647 human ensembl 74_37 +1 known missense c.1535 p.R512H 0.977 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTB/PI_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8L1 HGNC ENSG00000131037 102 0 0 83 29 25.8929 NLRP9 0 genome.wustl.edu 37 19 56223313 56223313 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 56223313 56223313 C T SNP NLRP9 ENST00000332836 human ensembl 74_37 -1 known missense c.2696 p.R899H 0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC ENSG00000185792 86 0 0 59 18 23.3766 NLRP11 0 genome.wustl.edu 37 19 56321601 56321601 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 56321601 56321601 C T SNP NLRP11 ENST00000443188 human ensembl 74_37 -1 known silent c.375 p.S125 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP11 HGNC ENSG00000179873 60 0 0 27 5 15.625 ZSCAN5A 0 genome.wustl.edu 37 19 56733224 56733224 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 56733224 56733224 C T SNP ZSCAN5A ENST00000391713 human ensembl 74_37 -1 known missense c.1211 p.R404Q 0.105 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN5A HGNC ENSG00000131848 55 0 0 39 8 17.0213 ZNF835 0 genome.wustl.edu 37 19 57176222 57176222 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 57176222 57176222 G A SNP ZNF835 ENST00000537055 human ensembl 74_37 -1 known silent c.345 p.C115 0.939 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF835 HGNC ENSG00000127903 118 0 0 77 25 24.5098 ZNF587 0 genome.wustl.edu 37 19 58367565 58367565 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 58367565 58367565 G A SNP ZNF587 ENST00000339656 human ensembl 74_37 +1 known missense c.127 p.V43M 0.953 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF587 HGNC ENSG00000198466 128 0 0 94 39 29.3233 ZNF814 0 genome.wustl.edu 37 19 58384974 58384974 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 58384974 58384974 T C SNP ZNF814 ENST00000435989 human ensembl 74_37 -1 known missense c.1784 p.Q595R 0.814 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 ZNF814 HGNC ENSG00000204514 70 0 0 53 4 7.01754 ZNF418 0 genome.wustl.edu 37 19 58438212 58438212 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 58438212 58438212 C T SNP ZNF418 ENST00000396147 human ensembl 74_37 -1 known missense c.1337 p.R446Q 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF418 HGNC ENSG00000196724 234 1 0.425532 116 56 32.5581 ZNF256 0 genome.wustl.edu 37 19 58453320 58453320 + Nonsense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 58453320 58453320 G A SNP ZNF256 ENST00000282308 human ensembl 74_37 -1 known nonsense c.856 p.R286* 0.002 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 ZNF256 HGNC ENSG00000152454 152 0 0 95 32 25.1969 ZSCAN1 0 genome.wustl.edu 37 19 58549600 58549600 + Silent SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 58549600 58549600 G T SNP ZSCAN1 ENST00000391700 human ensembl 74_37 +1 known silent c.396 p.P132 0.001 smart_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN1 HGNC ENSG00000152467 19 0 0 10 3 23.0769 ZNF274 0 genome.wustl.edu 37 19 58718166 58718166 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 58718166 58718166 G T SNP ZNF274 ENST00000326804 human ensembl 74_37 +1 known missense c.336 p.E112D 0.968 NULL pfam_Krueppel-associated_box,pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF274 HGNC ENSG00000171606 46 0 0 19 8 29.6296 ZNF8 0 genome.wustl.edu 37 19 58805539 58805539 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 58805539 58805539 C T SNP ZNF8 ENST00000196548 human ensembl 74_37 +1 known missense c.365 p.T122M 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF8 Uniprot_gn ENSG00000083842 61 0 0 45 22 32.8358 CAPS 0 genome.wustl.edu 37 19 5915081 5915081 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 5915081 5915081 G A SNP CAPS ENST00000222125 human ensembl 74_37 +1 known missense c.392 p.R131H 0.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CAPS HGNC ENSG00000105519 148 0 0 128 43 25.1462 HCN2 0 genome.wustl.edu 37 19 613971 613971 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 613971 613971 C T SNP HCN2 ENST00000251287 human ensembl 74_37 +1 known missense c.1945 p.R649W 1.000 superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN2 HGNC ENSG00000099822 67 0 0 35 23 39.6552 ACER1 0 genome.wustl.edu 37 19 6312428 6312428 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 6312428 6312428 A G SNP ACER1 ENST00000301452 human ensembl 74_37 -1 known missense c.176 p.I59T 0.022 pfam_Ceramidase pfam_Ceramidase - no_errors ACER1 HGNC ENSG00000167769 220 0 0 153 52 25.3659 MISP 0 genome.wustl.edu 37 19 758640 758640 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 758640 758640 G A SNP MISP ENST00000215582 human ensembl 74_37 +1 known missense c.1694 p.R565Q 0.781 NULL NULL - no_errors MISP HGNC ENSG00000099812 118 0 0 71 32 31.068 PNPLA6 0 genome.wustl.edu 37 19 7623981 7623981 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 7623981 7623981 C T SNP PNPLA6 ENST00000414982 human ensembl 74_37 +1 known missense c.3673 p.R1225C 1.000 superfamily_Acyl_Trfase/lysoPLipase pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA6 HGNC ENSG00000032444 87 0 0 59 21 26.25 CAMSAP3 0 genome.wustl.edu 37 19 7676704 7676704 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 7676704 7676704 C T SNP CAMSAP3 ENST00000446248 human ensembl 74_37 +1 known missense c.1406 p.P469L 0.195 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP3 HGNC ENSG00000076826 26 0 0 22 7 24.1379 MYO1F 0 genome.wustl.edu 37 19 8620596 8620596 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 8620596 8620596 C T SNP MYO1F ENST00000338257 human ensembl 74_37 -1 known missense c.88 p.E30K 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1F HGNC ENSG00000142347 132 0 0 90 22 19.6429 ADAMTS10 0 genome.wustl.edu 37 19 8670086 8670086 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 8670086 8670086 C T SNP ADAMTS10 ENST00000270328 human ensembl 74_37 -1 known silent c.246 p.S82 0.088 pfam_Peptidase_M12B_N pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS10 HGNC ENSG00000142303 50 0 0 32 8 20 MUC16 0 genome.wustl.edu 37 19 9068980 9068980 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 9068980 9068980 C T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.18466 p.A6156T 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 66 0 0 45 12 21.0526 MUC16 0 genome.wustl.edu 37 19 9069065 9069065 + Silent SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 9069065 9069065 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.18381 p.S6127 0.008 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 38 0 0 20 5 20 POU3F3 0 genome.wustl.edu 37 2 105473462 105473462 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 105473462 105473462 C T SNP POU3F3 ENST00000361360 human ensembl 74_37 +1 known silent c.1494 p.S498 1.000 pirsf_Transcription_factor_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F3 HGNC ENSG00000198914 20 0 0 18 7 28 SULT1C2 0 genome.wustl.edu 37 2 108921046 108921046 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 108921046 108921046 G A SNP SULT1C2 ENST00000326853 human ensembl 74_37 +1 known missense c.425 p.R142Q 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1C2 HGNC ENSG00000198203 180 0 0 128 47 26.8571 RANBP2 0 genome.wustl.edu 37 2 109347799 109347799 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 109347799 109347799 A G SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known missense c.274 p.T92A 1.000 pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 72 0 0 36 19 34.5455 CCDC138 0 genome.wustl.edu 37 2 109463340 109463340 + Silent SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 109463340 109463340 A G SNP CCDC138 ENST00000295124 human ensembl 74_37 +1 known silent c.1470 p.P490 0.127 NULL NULL - no_errors CCDC138 HGNC ENSG00000163006 61 0 0 49 17 25.7576 NPHP1 0 genome.wustl.edu 37 2 110927445 110927445 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 110927445 110927445 C T SNP NPHP1 ENST00000316534 human ensembl 74_37 -1 known missense c.460 p.G154S 0.000 superfamily_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NPHP1 HGNC ENSG00000144061 57 0 0 38 14 26.9231 RGPD8 0 genome.wustl.edu 37 2 113161636 113161636 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 113161636 113161636 A G SNP RGPD8 ENST00000302558 human ensembl 74_37 -1 known missense c.1183 p.S395P 0.992 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD8 HGNC ENSG00000169629 28 0 0 5 11 68.75 POLR1B 0 genome.wustl.edu 37 2 113315657 113315657 + Silent SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 113315657 113315657 A G SNP POLR1B ENST00000541869 human ensembl 74_37 +1 known silent c.1443 p.T481 1.000 NULL pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpa2-specific,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_5 - no_errors POLR1B HGNC ENSG00000125630 38 0 0 18 7 28 ROCK2 0 genome.wustl.edu 37 2 11351805 11351805 + Splice_Site SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 11351805 11351805 A G SNP ROCK2 ENST00000315872 human ensembl 74_37 -1 known splice_site c.2203+2 e18+2 1.000 - - - no_errors ROCK2 HGNC ENSG00000134318 95 0 0 80 22 21.5686 FOXD4L1 0 genome.wustl.edu 37 2 114256886 114256886 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 114256886 114256886 G A SNP FOXD4L1 ENST00000306507 human ensembl 74_37 +1 known missense c.53 p.R18Q 0.953 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4L1 HGNC ENSG00000184492 126 0 0 85 44 34.1085 EPB41L5 0 genome.wustl.edu 37 2 120844814 120844814 + Nonsense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 120844814 120844814 C T SNP EPB41L5 ENST00000263713 human ensembl 74_37 +1 known nonsense c.871 p.Q291* 1.000 pfam_FERM_PH-like_C,pfscan_FERM_domain pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L5 HGNC ENSG00000115109 38 0 0 37 14 27.451 WDR33 0 genome.wustl.edu 37 2 128477600 128477600 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 128477600 128477600 G A SNP WDR33 ENST00000322313 human ensembl 74_37 -1 known missense c.1999 p.R667W 0.993 NULL pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR33 HGNC ENSG00000136709 82 0 0 72 13 15.2941 TRIB2 0 genome.wustl.edu 37 2 12863670 12863670 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 12863670 12863670 C T SNP TRIB2 ENST00000155926 human ensembl 74_37 +1 known silent c.555 p.D185 0.871 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 TRIB2 HGNC ENSG00000071575 76 0 0 68 24 26.087 HS6ST1 0 genome.wustl.edu 37 2 129025780 129025780 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 129025780 129025780 C T SNP HS6ST1 ENST00000259241 human ensembl 74_37 -1 known missense c.1192 p.V398M 0.997 NULL pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS6ST1 HGNC ENSG00000136720 52 0 0 32 6 15.7895 POTEE 0 genome.wustl.edu 37 2 132021903 132021903 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 132021903 132021903 G A SNP POTEE ENST00000356920 human ensembl 74_37 +1 known missense c.2875 p.E959K 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEE HGNC ENSG00000188219 68 0 0 78 14 15.2174 LRP1B 0 genome.wustl.edu 37 2 141143557 141143557 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 141143557 141143557 T C SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.10436 p.H3479R 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 128 0 0 73 29 28.4314 LRP1B 0 genome.wustl.edu 37 2 141641551 141641551 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 141641551 141641551 G A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.4004 p.A1335V 1.000 smart_LDLR_classB_rpt,pfscan_LDLR_classB_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 142 0 0 82 25 23.3645 GTDC1 0 genome.wustl.edu 37 2 144765060 144765060 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 144765060 144765060 G A SNP GTDC1 ENST00000344850 human ensembl 74_37 -1 known silent c.564 p.L188 0.108 NULL pfam_GlycosylTrfase_1_N,pfam_Glyco_trans_1 - no_errors GTDC1 HGNC ENSG00000121964 88 0 0 50 12 19.3548 MBD5 0 genome.wustl.edu 37 2 149247283 149247283 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 149247283 149247283 C T SNP MBD5 ENST00000407073 human ensembl 74_37 +1 known missense c.3383 p.A1128V 1.000 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP_dom - no_errors MBD5 HGNC ENSG00000204406 100 0 0 76 22 22.449 NEB 0 genome.wustl.edu 37 2 152411514 152411514 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 152411514 152411514 C T SNP NEB ENST00000397345 human ensembl 74_37 -1 known silent c.19359 p.T6453 0.827 NULL pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 64 0 0 60 18 23.0769 NEB 0 genome.wustl.edu 37 2 152580788 152580788 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 152580788 152580788 C T SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.598 p.A200T 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 39 0 0 17 6 26.087 TANC1 0 genome.wustl.edu 37 2 160053147 160053147 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 160053147 160053147 G A SNP TANC1 ENST00000263635 human ensembl 74_37 +1 known missense c.3008 p.C1003Y 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 96 0 0 81 21 20.5882 FIGN 0 genome.wustl.edu 37 2 164466372 164466372 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 164466372 164466372 G A SNP FIGN ENST00000333129 human ensembl 74_37 -1 known missense c.1970 p.A657V 1.000 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGN HGNC ENSG00000182263 93 0 0 60 22 26.8293 ABCB11 0 genome.wustl.edu 37 2 169851961 169851961 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 169851961 169851961 T C SNP ABCB11 ENST00000263817 human ensembl 74_37 -1 known missense c.509 p.Q170R 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB11 HGNC ENSG00000073734 38 0 0 31 6 16.2162 LRP2 0 genome.wustl.edu 37 2 170031820 170031820 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 170031820 170031820 G A SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.10651 p.R3551C 0.998 superfamily_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,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 LRP2 HGNC ENSG00000081479 96 0 0 63 26 29.2135 LRP2 0 genome.wustl.edu 37 2 170088299 170088299 + Nonsense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 170088299 170088299 G A SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known nonsense c.5152 p.Q1718* 0.374 superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,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 LRP2 HGNC ENSG00000081479 70 0 0 50 20 28.5714 BBS5 0 genome.wustl.edu 37 2 170356084 170356084 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 170356084 170356084 A G SNP BBS5 ENST00000554017 human ensembl 74_37 +1 known missense c.770 p.Y257C 1.000 pfam_BBL5 pfam_BBL5,pfam_Kelch_1,smart_DM16_repeat,smart_Kelch_1 - no_errors BBS5 HGNC ENSG00000163093 69 0 0 54 20 27.027 HOXD3 0 genome.wustl.edu 37 2 177036706 177036706 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 177036706 177036706 G A SNP HOXD3 ENST00000249440 human ensembl 74_37 +1 known missense c.1003 p.E335K 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXD3 HGNC ENSG00000128652 29 0 0 32 8 20 TTC30A 0 genome.wustl.edu 37 2 178482854 178482854 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 178482854 178482854 G A SNP TTC30A ENST00000355689 human ensembl 74_37 -1 known silent c.576 p.Y192 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC30A HGNC ENSG00000197557 116 0 0 100 18 15.2542 TTC30A 0 genome.wustl.edu 37 2 178483410 178483410 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 178483410 178483410 G A SNP TTC30A ENST00000355689 human ensembl 74_37 -1 known missense c.20 p.A7V 0.029 NULL smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC30A HGNC ENSG00000197557 23 0 0 19 10 34.4828 OSBPL6 0 genome.wustl.edu 37 2 179209055 179209055 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 179209055 179209055 C T SNP OSBPL6 ENST00000315022 human ensembl 74_37 +1 known missense c.967 p.R323W 1.000 NULL pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL6 HGNC ENSG00000079156 79 0 0 52 20 27.7778 TTN 0 genome.wustl.edu 37 2 179403387 179403387 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 179403387 179403387 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.91465 p.Q30489K 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 219 0 0 157 20 11.2994 TTN 0 genome.wustl.edu 37 2 179421666 179421666 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 179421666 179421666 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.80511 p.Q26837 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 52 0 0 36 11 23.4043 TTN 0 genome.wustl.edu 37 2 179444798 179444798 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 179444798 179444798 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.59512 p.T19838A 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 163 0 0 90 36 28.5714 TTN 0 genome.wustl.edu 37 2 179457718 179457718 + Missense_Mutation SNP T T A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 179457718 179457718 T A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.51424 p.S17142C 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 186 0 0 162 42 20.5882 TTN 0 genome.wustl.edu 37 2 179466856 179466856 + Missense_Mutation SNP T T G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 179466856 179466856 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.47438 p.D15813A 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 73 0 0 47 24 33.8028 TTN 0 genome.wustl.edu 37 2 179474470 179474470 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 179474470 179474470 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.43976 p.A14659V 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 285 0 0 198 70 26.1194 TTN 0 genome.wustl.edu 37 2 179584925 179584925 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 179584925 179584925 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.19712 p.R6571Q 0.581 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 81 0 0 51 15 22.7273 SESTD1 0 genome.wustl.edu 37 2 179989141 179989141 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 179989141 179989141 T C SNP SESTD1 ENST00000428443 human ensembl 74_37 -1 known missense c.1117 p.R373G 1.000 NULL superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors SESTD1 HGNC ENSG00000187231 74 0 0 56 16 22.2222 ZNF385B 0 genome.wustl.edu 37 2 180308114 180308114 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 180308114 180308114 C T SNP ZNF385B ENST00000410066 human ensembl 74_37 -1 known missense c.1279 p.V427M 0.887 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385B HGNC ENSG00000144331 29 0 0 9 6 40 FRZB 0 genome.wustl.edu 37 2 183730895 183730895 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 183730895 183730895 G A SNP FRZB ENST00000295113 human ensembl 74_37 -1 known missense c.386 p.S129L 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors FRZB HGNC ENSG00000162998 47 0 0 40 12 23.0769 COL5A2 0 genome.wustl.edu 37 2 189917735 189917735 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 189917735 189917735 C T SNP COL5A2 ENST00000374866 human ensembl 74_37 -1 known missense c.2563 p.G855R 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL5A2 HGNC ENSG00000204262 52 0 0 48 9 15.7895 AOX1 0 genome.wustl.edu 37 2 201485877 201485877 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 201485877 201485877 G T SNP AOX1 ENST00000374700 human ensembl 74_37 +1 known missense c.1909 p.G637C 0.986 pfam_Ald_Oxase/Xan_DH_a/b,superfamily_Ald_Oxase/Xan_DH_a/b,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase - no_errors AOX1 HGNC ENSG00000138356 111 0 0 80 36 31.0345 FZD7 0 genome.wustl.edu 37 2 202900038 202900038 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 202900038 202900038 G A SNP FZD7 ENST00000286201 human ensembl 74_37 +1 known missense c.668 p.R223H 1.000 NULL pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD7 HGNC ENSG00000155760 64 0 0 44 21 32.3077 ZDBF2 0 genome.wustl.edu 37 2 207169731 207169731 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 207169731 207169731 G A SNP ZDBF2 ENST00000374423 human ensembl 74_37 +1 known missense c.479 p.R160K 0.001 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 30 0 0 35 4 10.2564 RPE 0 genome.wustl.edu 37 2 210874443 210874443 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 210874443 210874443 G A SNP RPE ENST00000359429 human ensembl 74_37 +1 known missense c.185 p.G62D 1.000 pfam_Ribul_P_3_epim-like,superfamily_RibuloseP-bd_barrel,tigrfam_Ribul_P_3_epim-like pfam_Ribul_P_3_epim-like,superfamily_RibuloseP-bd_barrel,tigrfam_Ribul_P_3_epim-like - no_errors RPE HGNC ENSG00000197713 261 0 0 170 65 27.6596 ABCA12 0 genome.wustl.edu 37 2 215862460 215862460 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 215862460 215862460 C A SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known missense c.3253 p.V1085L 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 86 0 0 38 11 22.449 IGFBP2 0 genome.wustl.edu 37 2 217528750 217528750 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 217528750 217528750 C T SNP IGFBP2 ENST00000233809 human ensembl 74_37 +1 known missense c.901 p.R301W 1.000 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_IGFBP-like,superfamily_Thyroglobulin_1,superfamily_Growth_fac_rcpt_N_dom,smart_IGFBP-like,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata,prints_IGFBP-2 - no_errors IGFBP2 HGNC ENSG00000115457 36 0 0 30 17 36.1702 ZNF142 0 genome.wustl.edu 37 2 219508810 219508810 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 219508810 219508810 T C SNP ZNF142 ENST00000411696 human ensembl 74_37 -1 known missense c.2429 p.Q810R 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF142 HGNC ENSG00000115568 347 0 0 270 44 14.0127 BCS1L 0 genome.wustl.edu 37 2 219528151 219528151 + RNA SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 219528151 219528151 A G SNP BCS1L ENST00000465706 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors BCS1L HGNC ENSG00000074582 45 0 0 34 18 34.6154 DNAJB2 0 genome.wustl.edu 37 2 220150745 220150745 + RNA SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 220150745 220150745 T C SNP DNAJB2 ENST00000470530 human ensembl 74_37 +1 putative rna NULL NULL 0.770 - - - no_errors DNAJB2 HGNC ENSG00000135924 42 0 0 35 16 31.3725 SPEG 0 genome.wustl.edu 37 2 220334065 220334065 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 220334065 220334065 C T SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel missense c.3679 p.R1227C 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors SPEG HGNC ENSG00000072195 51 0 0 36 11 23.4043 GMPPA 0 genome.wustl.edu 37 2 220366242 220366242 + Silent SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 220366242 220366242 T C SNP GMPPA ENST00000313597 human ensembl 74_37 +1 known silent c.183 p.P61 0.805 pfam_NTP_transferase pfam_NTP_transferase - no_errors GMPPA HGNC ENSG00000144591 274 1 0.363636 144 69 32.3944 DOCK10 0 genome.wustl.edu 37 2 225727389 225727389 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 225727389 225727389 C A SNP DOCK10 ENST00000258390 human ensembl 74_37 -1 known missense c.1677 p.W559C 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 24 0 0 22 5 18.5185 ALPI 0 genome.wustl.edu 37 2 233323702 233323702 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 233323702 233323702 C T SNP ALPI ENST00000295463 human ensembl 74_37 +1 known missense c.1433 p.A478V 1.000 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPI HGNC ENSG00000163295 11 0 0 8 4 33.3333 NEU2 0 genome.wustl.edu 37 2 233899563 233899563 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 233899563 233899563 G A SNP NEU2 ENST00000233840 human ensembl 74_37 +1 known silent c.939 p.P313 0.000 superfamily_Sialidases superfamily_Sialidases - no_errors NEU2 HGNC ENSG00000115488 152 1 0.653595 129 39 23.2143 AGAP1 0 genome.wustl.edu 37 2 236708164 236708164 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 236708164 236708164 A G SNP AGAP1 ENST00000304032 human ensembl 74_37 +1 known missense c.955 p.T319A 1.000 NULL pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP1 HGNC ENSG00000157985 102 0 0 65 21 24.4186 COL6A3 0 genome.wustl.edu 37 2 238277261 238277261 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 238277261 238277261 G A SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known silent c.4845 p.P1615 0.823 NULL pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 105 0 0 76 30 28.3019 ESPNL 0 genome.wustl.edu 37 2 239039978 239039978 + Silent SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 239039978 239039978 C A SNP ESPNL ENST00000343063 human ensembl 74_37 +1 known silent c.2623 p.R875 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ESPNL HGNC ENSG00000144488 19 0 0 12 7 36.8421 KLHL30 0 genome.wustl.edu 37 2 239050088 239050088 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 239050088 239050088 C T SNP KLHL30 ENST00000409223 human ensembl 74_37 +1 known silent c.693 p.C231 0.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL30 HGNC ENSG00000168427 9 0 0 13 5 27.7778 HDAC4 0 genome.wustl.edu 37 2 239975238 239975238 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 239975238 239975238 C T SNP HDAC4 ENST00000345617 human ensembl 74_37 -1 known missense c.3133 p.A1045T 1.000 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC4 HGNC ENSG00000068024 41 0 0 61 4 6.15385 GAL3ST2 0 genome.wustl.edu 37 2 242741294 242741294 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 242741294 242741294 G A SNP GAL3ST2 ENST00000192314 human ensembl 74_37 +1 known missense c.218 p.R73H 1.000 pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST2 HGNC ENSG00000154252 91 0 0 73 21 22.3404 LOC101930257 0 genome.wustl.edu 37 2 243056854 243056854 + RNA SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 243056854 243056854 A G SNP LOC101930257 ENST00000431796 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AC093642.5 Clone_based_vega_gene ENSG00000220804 27 0 0 27 5 15.625 ITSN2 0 genome.wustl.edu 37 2 24509160 24509160 + Missense_Mutation SNP A A C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 24509160 24509160 A C SNP ITSN2 ENST00000355123 human ensembl 74_37 -1 known missense c.1784 p.L595R 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN2 HGNC ENSG00000198399 29 0 0 25 5 16.6667 NCOA1 0 genome.wustl.edu 37 2 24927990 24927990 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 24927990 24927990 A G SNP NCOA1 ENST00000348332 human ensembl 74_37 +1 known missense c.985 p.R329G 1.000 superfamily_PAS,pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA1 HGNC ENSG00000084676 119 0 0 78 21 21.2121 SNX17 0 genome.wustl.edu 37 2 27598992 27598992 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 27598992 27598992 G A SNP SNX17 ENST00000233575 human ensembl 74_37 +1 known missense c.1124 p.C375Y 1.000 NULL pfam_Phox,superfamily_Phox,superfamily_FERM_central,smart_Phox,pfscan_Phox,pfscan_Ras-assoc - no_errors SNX17 HGNC ENSG00000115234 164 0 0 116 36 23.6842 ZNF513 0 genome.wustl.edu 37 2 27600656 27600656 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 27600656 27600656 C T SNP ZNF513 ENST00000323703 human ensembl 74_37 -1 known missense c.1382 p.R461H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF513 HGNC ENSG00000163795 280 1 0.355872 202 74 26.8116 SLC4A1AP 0 genome.wustl.edu 37 2 27898476 27898476 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 27898476 27898476 A G SNP SLC4A1AP ENST00000326019 human ensembl 74_37 +1 known missense c.1423 p.T475A 1.000 NULL pfam_FHA_dom,pfam_dsRNA-bd_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors SLC4A1AP HGNC ENSG00000163798 85 0 0 49 24 32.8767 LCLAT1 0 genome.wustl.edu 37 2 30748598 30748598 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 30748598 30748598 G T SNP LCLAT1 ENST00000309052 human ensembl 74_37 +1 known missense c.256 p.A86S 1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors LCLAT1 HGNC ENSG00000172954 113 1 0.877193 75 29 27.8846 HEATR5B 0 genome.wustl.edu 37 2 37287865 37287865 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 37287865 37287865 C T SNP HEATR5B ENST00000233099 human ensembl 74_37 -1 known missense c.1708 p.V570I 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5B HGNC ENSG00000008869 101 0 0 64 23 26.4368 SLC3A1 0 genome.wustl.edu 37 2 44539759 44539759 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 44539759 44539759 G A SNP SLC3A1 ENST00000260649 human ensembl 74_37 +1 known missense c.1367 p.R456H 1.000 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom - no_errors SLC3A1 HGNC ENSG00000138079 132 0 0 83 21 20.1923 MSH6 0 genome.wustl.edu 37 2 48026311 48026311 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 48026311 48026311 T C SNP MSH6 ENST00000234420 human ensembl 74_37 +1 known missense c.1189 p.Y397H 0.990 superfamily_DNA_mismatch_repair_MutS_N,pirsf_DNA_mismatch_repair_Msh6 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP_dom,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_PWWP_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP_dom - no_errors MSH6 HGNC ENSG00000116062 110 0 0 63 26 29.2135 FOXN2 0 genome.wustl.edu 37 2 48602513 48602513 + Silent SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 48602513 48602513 A G SNP FOXN2 ENST00000340553 human ensembl 74_37 +1 known silent c.1227 p.G409 0.999 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN2 HGNC ENSG00000170802 36 0 0 12 9 42.8571 TSPYL6 0 genome.wustl.edu 37 2 54483007 54483007 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 54483007 54483007 G A SNP TSPYL6 ENST00000317802 human ensembl 74_37 -1 known silent c.282 p.P94 0.004 NULL pfam_NAP_family - no_errors TSPYL6 HGNC ENSG00000178021 80 0 0 59 22 27.1605 SOX11 0 genome.wustl.edu 37 2 5833531 5833531 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 5833531 5833531 C T SNP SOX11 ENST00000322002 human ensembl 74_37 +1 known silent c.678 p.D226 0.997 pirsf_SOX-12/11/4a pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom - no_errors SOX11 HGNC ENSG00000176887 13 0 0 11 11 50 PUS10 0 genome.wustl.edu 37 2 61175320 61175320 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 61175320 61175320 C T SNP PUS10 ENST00000316752 human ensembl 74_37 -1 known missense c.1309 p.D437N 1.000 superfamily_PsdUridine_synth_cat_dom superfamily_PsdUridine_synth_cat_dom - no_errors PUS10 HGNC ENSG00000162927 139 0 0 103 35 25.3623 UGP2 0 genome.wustl.edu 37 2 64113007 64113007 + Missense_Mutation SNP G G C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 64113007 64113007 G C SNP UGP2 ENST00000337130 human ensembl 74_37 +1 known missense c.860 p.R287P 1.000 pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr - no_errors UGP2 HGNC ENSG00000169764 64 0 0 45 14 23.7288 ACTR2 0 genome.wustl.edu 37 2 65473672 65473672 + Silent SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 65473672 65473672 T C SNP ACTR2 ENST00000377982 human ensembl 74_37 +1 known silent c.189 p.G63 0.958 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTR2 HGNC ENSG00000138071 63 0 0 48 23 32.3944 TMEM18 0 genome.wustl.edu 37 2 675525 675525 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 675525 675525 G A SNP TMEM18 ENST00000281017 human ensembl 74_37 -1 known missense c.163 p.H55Y 0.987 NULL NULL - no_errors TMEM18 HGNC ENSG00000151353 80 0 0 88 32 26.6667 ADD2 0 genome.wustl.edu 37 2 70923378 70923378 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 70923378 70923378 G A SNP ADD2 ENST00000264436 human ensembl 74_37 -1 known missense c.473 p.T158M 1.000 pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD2 HGNC ENSG00000075340 22 0 0 16 13 44.8276 CD207 0 genome.wustl.edu 37 2 71062648 71062648 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 71062648 71062648 G A SNP CD207 ENST00000410009 human ensembl 74_37 -1 known missense c.164 p.A55V 0.170 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CD207 HGNC ENSG00000116031 46 0 0 44 4 8.33333 TEX261 0 genome.wustl.edu 37 2 71219073 71219073 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 71219073 71219073 C T SNP TEX261 ENST00000272438 human ensembl 74_37 -1 known missense c.191 p.R64H 0.999 pfam_Transmembrane_adaptor_Erv26 pfam_Transmembrane_adaptor_Erv26 - no_errors TEX261 HGNC ENSG00000144043 48 0 0 40 9 18.3673 TET3 0 genome.wustl.edu 37 2 74273650 74273650 + Silent SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 74273650 74273650 C A SNP TET3 ENST00000409262 human ensembl 74_37 +1 known silent c.201 p.A67 1.000 NULL NULL - no_errors TET3 HGNC ENSG00000187605 49 0 0 44 12 21.4286 LRRTM4 0 genome.wustl.edu 37 2 77745529 77745529 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 77745529 77745529 T C SNP LRRTM4 ENST00000409911 human ensembl 74_37 -1 known missense c.1469 p.K490R 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM4 HGNC ENSG00000176204 34 0 0 30 5 14.2857 CTNNA2 0 genome.wustl.edu 37 2 80646606 80646606 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 80646606 80646606 C T SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known silent c.1272 p.D424 0.998 pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 82 0 0 58 16 21.6216 TCF7L1 0 genome.wustl.edu 37 2 85361486 85361486 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 85361486 85361486 G A SNP TCF7L1 ENST00000282111 human ensembl 74_37 +1 known silent c.354 p.P118 0.053 pfam_CTNNB1-bd_N pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TCF7L1 HGNC ENSG00000152284 22 0 0 9 5 35.7143 ELMOD3 0 genome.wustl.edu 37 2 85617385 85617385 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 85617385 85617385 A G SNP ELMOD3 ENST00000315658 human ensembl 74_37 +1 known missense c.940 p.K314E 1.000 NULL pfam_Engulfment_cell_motility_ELMO - no_errors ELMOD3 HGNC ENSG00000115459 102 0 0 65 26 28.5714 GGCX 0 genome.wustl.edu 37 2 85781553 85781553 + RNA SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 85781553 85781553 C A SNP GGCX ENST00000473665 human ensembl 74_37 -1 known rna NULL NULL 0.325 - - - no_errors GGCX HGNC ENSG00000115486 33 0 0 11 4 26.6667 ST3GAL5 0 genome.wustl.edu 37 2 86073608 86073608 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 86073608 86073608 G A SNP ST3GAL5 ENST00000377332 human ensembl 74_37 -1 known silent c.741 p.G247 0.196 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL5 HGNC ENSG00000115525 69 0 0 47 6 11.3208 ADRA2B 0 genome.wustl.edu 37 2 96781615 96781615 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 96781615 96781615 C T SNP ADRA2B ENST00000409345 human ensembl 74_37 -1 known missense c.274 p.D92N 1.000 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_ADRA2B_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA2B HGNC ENSG00000222040 42 0 0 24 6 20 ANKRD36 0 genome.wustl.edu 37 2 97875442 97875442 + Missense_Mutation SNP T T G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 97875442 97875442 T G SNP ANKRD36 ENST00000420699 human ensembl 74_37 +1 known missense c.3290 p.L1097W 0.010 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36 HGNC ENSG00000135976 37 0 0 28 5 15.1515 KIAA1211L 0 genome.wustl.edu 37 2 99439540 99439540 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 99439540 99439540 G A SNP KIAA1211L ENST00000397899 human ensembl 74_37 -1 known missense c.1196 p.A399V 0.000 NULL NULL - no_errors KIAA1211L HGNC ENSG00000196872 14 0 0 13 5 27.7778 KIAA1211L 0 genome.wustl.edu 37 2 99448877 99448877 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 99448877 99448877 G A SNP KIAA1211L ENST00000397899 human ensembl 74_37 -1 known silent c.474 p.D158 0.914 NULL NULL - no_errors KIAA1211L HGNC ENSG00000196872 88 0 0 92 31 25.2033 LYG2 0 genome.wustl.edu 37 2 99860495 99860495 + Missense_Mutation SNP A A T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 99860495 99860495 A T SNP LYG2 ENST00000333017 human ensembl 74_37 -1 known missense c.487 p.F163I 1.000 pfam_TGlycosylase-like_SLT,superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23 pfam_TGlycosylase-like_SLT,superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23 - no_errors LYG2 HGNC ENSG00000185674 96 0 0 70 17 19.5402 SPTLC3 0 genome.wustl.edu 37 20 13074181 13074181 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 13074181 13074181 G A SNP SPTLC3 ENST00000399002 human ensembl 74_37 +1 known silent c.783 p.G261 0.988 pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase - no_errors SPTLC3 HGNC ENSG00000172296 97 0 0 58 8 12.1212 ISM1 0 genome.wustl.edu 37 20 13279946 13279946 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 13279946 13279946 C T SNP ISM1 ENST00000262487 human ensembl 74_37 +1 known missense c.1235 p.A412V 1.000 pfam_AMOP,smart_AMOP,pfscan_AMOP pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt - no_errors ISM1 HGNC ENSG00000101230 29 0 0 34 18 34.6154 ESF1 0 genome.wustl.edu 37 20 13752052 13752052 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 13752052 13752052 G A SNP ESF1 ENST00000202816 human ensembl 74_37 -1 known missense c.1328 p.P443L 0.999 NULL pfam_NUC153 - no_errors ESF1 HGNC ENSG00000089048 132 0 0 89 31 25.8333 KIF16B 0 genome.wustl.edu 37 20 16493497 16493497 + Silent SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 16493497 16493497 A G SNP KIF16B ENST00000408042 human ensembl 74_37 -1 known silent c.420 p.D140 1.000 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,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF16B HGNC ENSG00000089177 61 0 0 43 7 14 BFSP1 0 genome.wustl.edu 37 20 17479498 17479498 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 17479498 17479498 C T SNP BFSP1 ENST00000377873 human ensembl 74_37 -1 known missense c.923 p.R308Q 0.984 NULL pfam_IF,superfamily_Prefoldin - no_errors BFSP1 HGNC ENSG00000125864 56 0 0 35 14 28.5714 NINL 0 genome.wustl.edu 37 20 25434176 25434176 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 25434176 25434176 C T SNP NINL ENST00000278886 human ensembl 74_37 -1 known missense c.4060 p.A1354T 0.846 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NINL HGNC ENSG00000101004 108 0 0 107 7 6.14035 IDH3B 0 genome.wustl.edu 37 20 2639179 2639179 + RNA SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 2639179 2639179 G A SNP IDH3B ENST00000488299 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors IDH3B HGNC ENSG00000101365 44 0 0 22 11 33.3333 PLAGL2 0 genome.wustl.edu 37 20 30784819 30784819 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 30784819 30784819 G A SNP PLAGL2 ENST00000246229 human ensembl 74_37 -1 known silent c.927 p.G309 0.830 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PLAGL2 HGNC ENSG00000126003 193 1 0.515464 131 44 25.1429 FAM83C 0 genome.wustl.edu 37 20 33876762 33876762 + Splice_Site SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 33876762 33876762 C A SNP FAM83C ENST00000374408 human ensembl 74_37 -1 known splice_site c.514-1 e2-1 1.000 - - - no_errors FAM83C HGNC ENSG00000125998 103 0 0 84 29 25.6637 GDF5 0 genome.wustl.edu 37 20 34022054 34022054 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 34022054 34022054 G A SNP GDF5 ENST00000374369 human ensembl 74_37 -1 known missense c.1159 p.R387C 1.000 NULL pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF5 HGNC ENSG00000125965 194 0 0 155 66 29.8643 CEP250 0 genome.wustl.edu 37 20 34091729 34091729 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 34091729 34091729 G T SNP CEP250 ENST00000397527 human ensembl 74_37 +1 known missense c.5532 p.Q1844H 0.009 NULL superfamily_Prefoldin - no_errors CEP250 HGNC ENSG00000126001 44 0 0 34 5 12.8205 CPNE1 0 genome.wustl.edu 37 20 34218375 34218375 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 34218375 34218375 T C SNP CPNE1 ENST00000317677 human ensembl 74_37 -1 known missense c.1103 p.N368S 0.988 pfam_Copine,smart_VWF_A pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom - no_errors CPNE1 HGNC ENSG00000214078 129 0 0 145 9 5.84416 DLGAP4 0 genome.wustl.edu 37 20 35064647 35064647 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 35064647 35064647 G A SNP DLGAP4 ENST00000339266 human ensembl 74_37 +1 known missense c.1135 p.D379N 1.000 NULL pfam_GKAP - no_errors DLGAP4 HGNC ENSG00000080845 36 0 0 20 8 28.5714 VSTM2L 0 genome.wustl.edu 37 20 36560064 36560064 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 36560064 36560064 T C SNP VSTM2L ENST00000373461 human ensembl 74_37 +1 known missense c.149 p.M50T 1.000 pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors VSTM2L HGNC ENSG00000132821 286 0 0 198 72 26.6667 TTI1 0 genome.wustl.edu 37 20 36631163 36631163 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 36631163 36631163 G A SNP TTI1 ENST00000373447 human ensembl 74_37 -1 known missense c.2519 p.P840L 1.000 superfamily_ARM-type_fold,pirsf_UCP005250 superfamily_ARM-type_fold,pirsf_UCP005250 - no_errors TTI1 HGNC ENSG00000101407 139 1 0.714286 76 26 25.4902 SLC32A1 0 genome.wustl.edu 37 20 37356449 37356449 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 37356449 37356449 G A SNP SLC32A1 ENST00000217420 human ensembl 74_37 +1 known missense c.745 p.A249T 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC32A1 HGNC ENSG00000101438 66 0 0 38 14 26.9231 PANK2 0 genome.wustl.edu 37 20 3891416 3891416 + Missense_Mutation SNP T T G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 3891416 3891416 T G SNP PANK2 ENST00000316562 human ensembl 74_37 +1 known missense c.1174 p.S392A 1.000 pfam_Type_II_PanK,tigrfam_Type_II_PanK pfam_Type_II_PanK,tigrfam_Type_II_PanK - no_errors PANK2 HGNC ENSG00000125779 138 0 0 85 22 20.5607 PLCG1 0 genome.wustl.edu 37 20 39794342 39794342 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 39794342 39794342 C T SNP PLCG1 ENST00000244007 human ensembl 74_37 +1 known missense c.1675 p.R559C 0.968 pfam_SH2,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_Pleckstrin_homology,smart_SH2,pirsf_PLC-gamma,pfscan_SH2 pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_dom,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2 - no_errors PLCG1 HGNC ENSG00000124181 83 0 0 72 17 19.1011 CHD6 0 genome.wustl.edu 37 20 40113207 40113207 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 40113207 40113207 C A SNP CHD6 ENST00000373233 human ensembl 74_37 -1 known missense c.2042 p.R681L 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 157 0 0 99 27 21.4286 L3MBTL1 0 genome.wustl.edu 37 20 42162977 42162977 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 42162977 42162977 G A SNP L3MBTL1 ENST00000418998 human ensembl 74_37 +1 known silent c.1587 p.R529 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_Znf_C2HC,superfamily_SAM/pointed,smart_Mbt,pfscan_Mbt - no_errors L3MBTL1 HGNC ENSG00000185513 101 0 0 99 8 7.47664 SLC12A5 0 genome.wustl.edu 37 20 44683557 44683557 + Silent SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 44683557 44683557 T C SNP SLC12A5 ENST00000454036 human ensembl 74_37 +1 known silent c.2751 p.H917 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 44 0 0 29 12 29.2683 SLC35C2 0 genome.wustl.edu 37 20 44985238 44985238 + Missense_Mutation SNP T T A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 44985238 44985238 T A SNP SLC35C2 ENST00000543605 human ensembl 74_37 -1 known missense c.397 p.S133C 1.000 pfam_UAA pfam_Tpt_PEP_trans_dom,pfam_UAA - no_errors SLC35C2 HGNC ENSG00000080189 40 0 0 30 14 31.8182 EYA2 0 genome.wustl.edu 37 20 45771717 45771717 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 45771717 45771717 G A SNP EYA2 ENST00000327619 human ensembl 74_37 +1 known missense c.908 p.R303H 1.000 pfam_HAD-like_dom,tigrfam_EYA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA2 HGNC ENSG00000064655 107 0 0 63 14 18.1818 MOCS3 0 genome.wustl.edu 37 20 49576097 49576097 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 49576097 49576097 G A SNP MOCS3 ENST00000244051 human ensembl 74_37 +1 known missense c.718 p.A240T 0.999 pfam_MoeZ_MoeB,superfamily_Molybdenum_cofac_synth_MoeB pfam_ThiF_NAD_FAD-bd,pfam_MoeZ_MoeB,pfam_Rhodanese-like_dom,superfamily_Molybdenum_cofac_synth_MoeB,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors MOCS3 HGNC ENSG00000124217 144 0 0 106 36 25.3521 ATP9A 0 genome.wustl.edu 37 20 50221453 50221453 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 50221453 50221453 C T SNP ATP9A ENST00000338821 human ensembl 74_37 -1 known silent c.2910 p.A970 0.788 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9A HGNC ENSG00000054793 49 0 0 34 10 22.7273 ATP9A 0 genome.wustl.edu 37 20 50235213 50235213 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 50235213 50235213 T C SNP ATP9A ENST00000338821 human ensembl 74_37 -1 known missense c.2338 p.T780A 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9A HGNC ENSG00000054793 94 0 0 63 24 27.5862 ATP9A 0 genome.wustl.edu 37 20 50273655 50273655 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 50273655 50273655 G A SNP ATP9A ENST00000338821 human ensembl 74_37 -1 known missense c.1328 p.T443M 0.179 pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9A HGNC ENSG00000054793 54 0 0 62 5 7.46269 ATP9A 0 genome.wustl.edu 37 20 50346470 50346470 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 50346470 50346470 C T SNP ATP9A ENST00000338821 human ensembl 74_37 -1 known missense c.116 p.R39H 1.000 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9A HGNC ENSG00000054793 153 0 0 123 39 24.0741 ZFP64 0 genome.wustl.edu 37 20 50701513 50701513 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 50701513 50701513 C T SNP ZFP64 ENST00000361387 human ensembl 74_37 -1 known silent c.1521 p.A507 0.026 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP64 HGNC ENSG00000020256 129 0 0 97 30 23.622 CYP24A1 0 genome.wustl.edu 37 20 52788146 52788146 + Silent SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 52788146 52788146 T C SNP CYP24A1 ENST00000216862 human ensembl 74_37 -1 known silent c.513 p.E171 0.995 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP24A_mit pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_CYP24A_mit,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP24A1 HGNC ENSG00000019186 280 0 0 196 67 25.4753 CASS4 0 genome.wustl.edu 37 20 55027023 55027023 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 55027023 55027023 C T SNP CASS4 ENST00000360314 human ensembl 74_37 +1 known missense c.791 p.A264V 0.000 NULL pfam_Serine_rich,pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors CASS4 HGNC ENSG00000087589 92 0 0 50 12 19.3548 CASS4 0 genome.wustl.edu 37 20 55033681 55033681 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 55033681 55033681 G A SNP CASS4 ENST00000360314 human ensembl 74_37 +1 known missense c.2239 p.V747I 1.000 pfam_CAS_DUF3513 pfam_Serine_rich,pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors CASS4 HGNC ENSG00000087589 65 0 0 47 16 25.3968 APCDD1L 0 genome.wustl.edu 37 20 57042216 57042216 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 57042216 57042216 C T SNP APCDD1L ENST00000439429 human ensembl 74_37 -1 known silent c.720 p.A240 0.000 NULL NULL - no_errors APCDD1L HGNC ENSG00000198768 57 0 0 39 21 35 ZNF831 0 genome.wustl.edu 37 20 57766274 57766274 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 57766274 57766274 C A SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel missense c.200 p.P67H 0.999 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 34 0 0 19 9 32.1429 ZNF831 0 genome.wustl.edu 37 20 57766659 57766659 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 57766659 57766659 G A SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel silent c.585 p.T195 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 115 0 0 107 37 25.6944 LAMA5 0 genome.wustl.edu 37 20 60912692 60912692 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 60912692 60912692 C T SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known silent c.2118 p.R706 0.797 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 37 0 0 25 9 26.4706 LOC100127888 0 genome.wustl.edu 37 20 61296587 61296587 + RNA SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 61296587 61296587 G A SNP LOC100127888 ENST00000433126 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-93B14.5 Clone_based_vega_gene ENSG00000232803 19 0 0 15 5 25 OGFR 0 genome.wustl.edu 37 20 61444596 61444596 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 61444596 61444596 C T SNP OGFR ENST00000290291 human ensembl 74_37 +1 known silent c.1629 p.G543 0.010 pfam_OGF_rcpt_rpt pfam_OGF_rcpt,pfam_OGF_rcpt_rpt - no_errors OGFR HGNC ENSG00000060491 26 0 0 36 10 21.7391 COL20A1 0 genome.wustl.edu 37 20 61943272 61943272 + Silent SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 61943272 61943272 C A SNP COL20A1 ENST00000326996 human ensembl 74_37 +1 known silent c.1668 p.T556 0.029 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL20A1 HGNC ENSG00000101203 8 0 0 11 7 38.8889 PLCB1 0 genome.wustl.edu 37 20 8782728 8782728 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 8782728 8782728 C T SNP PLCB1 ENST00000378637 human ensembl 74_37 +1 known missense c.3449 p.S1150L 1.000 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC ENSG00000182621 87 0 0 71 29 29 BAGE2 0 genome.wustl.edu 37 21 11098712 11098712 + RNA SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 21 11098712 11098712 C T SNP BAGE2 ENST00000470054 human ensembl 74_37 -1 known rna NULL NULL 0.020 - - - no_errors BAGE2 HGNC ENSG00000187172 361 0 0 333 45 11.9048 ANKRD30BP2 0 genome.wustl.edu 37 21 14424160 14424160 + RNA SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 21 14424160 14424160 G T SNP ANKRD30BP2 ENST00000471407 human ensembl 74_37 +1 known rna NULL NULL 0.029 - - - no_errors ANKRD30BP2 HGNC ENSG00000224309 51 0 0 56 7 11.1111 SAMSN1 0 genome.wustl.edu 37 21 15884777 15884777 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 21 15884777 15884777 G T SNP SAMSN1 ENST00000400566 human ensembl 74_37 -1 known missense c.397 p.Q133K 0.994 pfam_rSAM/SH3_domain-containing pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SAMSN1 HGNC ENSG00000155307 244 0 0 129 50 27.933 NRIP1 0 genome.wustl.edu 37 21 16339835 16339835 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 21 16339835 16339835 T C SNP NRIP1 ENST00000318948 human ensembl 74_37 -1 known missense c.679 p.T227A 0.747 NULL NULL - no_errors NRIP1 HGNC ENSG00000180530 154 0 0 85 33 27.9661 MIR155HG 0 genome.wustl.edu 37 21 26946384 26946384 + RNA SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 21 26946384 26946384 A G SNP MIR155HG ENST00000456917 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR155HG HGNC ENSG00000234883 27 0 0 13 9 40.9091 ADAMTS5 0 genome.wustl.edu 37 21 28338429 28338429 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 21 28338429 28338429 G A SNP ADAMTS5 ENST00000284987 human ensembl 74_37 -1 known silent c.282 p.G94 0.998 pfam_Peptidase_M12B_N pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,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-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ENSG00000154736 151 0 0 109 37 25.3425 KRTAP11-1 0 genome.wustl.edu 37 21 32253467 32253467 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 21 32253467 32253467 C A SNP KRTAP11-1 ENST00000332378 human ensembl 74_37 -1 known missense c.377 p.G126V 0.003 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP11-1 HGNC ENSG00000182591 119 0 0 118 8 6.34921 IFNAR2 0 genome.wustl.edu 37 21 34619154 34619154 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 21 34619154 34619154 C T SNP IFNAR2 ENST00000342136 human ensembl 74_37 +1 known missense c.353 p.T118M 0.000 superfamily_Fibronectin_type3 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3 - no_errors IFNAR2 HGNC ENSG00000159110 40 0 0 31 13 29.5455 SON 0 genome.wustl.edu 37 21 34922085 34922085 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 21 34922085 34922085 C A SNP SON ENST00000356577 human ensembl 74_37 +1 known missense c.548 p.P183H 0.300 NULL pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_dsRNA-bd_dom - no_errors SON HGNC ENSG00000159140 120 0 0 122 10 7.57576 MORC3 0 genome.wustl.edu 37 21 37741865 37741865 + Silent SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 21 37741865 37741865 A G SNP MORC3 ENST00000400485 human ensembl 74_37 +1 known silent c.2199 p.E733 1.000 NULL pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,pfscan_Znf_CW - no_errors MORC3 HGNC ENSG00000159256 104 0 0 74 10 11.9048 TTC3 0 genome.wustl.edu 37 21 38538593 38538593 + Silent SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 21 38538593 38538593 T C SNP TTC3 ENST00000354749 human ensembl 74_37 +1 known silent c.4077 p.Y1359 0.375 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 146 0 0 94 33 25.9843 KCNJ6 0 genome.wustl.edu 37 21 39086633 39086633 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 21 39086633 39086633 G A SNP KCNJ6 ENST00000288309 human ensembl 74_37 -1 known missense c.827 p.P276L 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.2 - no_errors KCNJ6 HGNC ENSG00000157542 160 0 0 106 28 20.8955 DSCAM 0 genome.wustl.edu 37 21 41414401 41414401 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 21 41414401 41414401 G A SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known silent c.5583 p.S1861 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 130 1 0.763359 103 33 24.2647 DSCAM 0 genome.wustl.edu 37 21 41710234 41710234 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 21 41710234 41710234 C T SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known missense c.1577 p.R526H 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 84 0 0 57 22 27.8481 CBS 0 genome.wustl.edu 37 21 44474066 44474066 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 21 44474066 44474066 C T SNP CBS ENST00000398168 human ensembl 74_37 -1 known missense c.1622 p.R541Q 0.980 tigrfam_Cysta_beta_synth pfam_Trp_syn_b_sub_like_PLP_eny_SF,pfam_CBS_dom,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,smart_CBS_dom,tigrfam_Cysta_beta_synth - no_errors CBS HGNC ENSG00000160200 76 0 0 60 25 29.4118 KRTAP10-4 0 genome.wustl.edu 37 21 45994422 45994422 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 21 45994422 45994422 T C SNP KRTAP10-4 ENST00000400374 human ensembl 74_37 +1 known missense c.787 p.S263P 0.003 NULL NULL - no_errors KRTAP10-4 HGNC ENSG00000215454 261 0 0 193 76 28.2528 ADARB1 0 genome.wustl.edu 37 21 46604951 46604951 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 21 46604951 46604951 G A SNP ADARB1 ENST00000360697 human ensembl 74_37 +1 known missense c.1630 p.G544R 1.000 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA-bd_dom,superfamily_Cytokine_IL1-like,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADARB1 HGNC ENSG00000197381 181 0 0 150 48 24.2424 POFUT2 0 genome.wustl.edu 37 21 46687474 46687474 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 21 46687474 46687474 G A SNP POFUT2 ENST00000331343 human ensembl 74_37 -1 known silent c.1167 p.S389 0.000 NULL pfam_GDP-Fuc_O-FucTrfase,superfamily_DUF749 - no_errors POFUT2 HGNC ENSG00000186866 171 0 0 171 55 24.3363 LSS 0 genome.wustl.edu 37 21 47635156 47635156 + Nonsense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 21 47635156 47635156 G A SNP LSS ENST00000356396 human ensembl 74_37 -1 known nonsense c.949 p.Q317* 0.001 superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase - no_errors LSS HGNC ENSG00000160285 41 0 0 41 10 19.6078 PCNT 0 genome.wustl.edu 37 21 47771404 47771404 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 21 47771404 47771404 G A SNP PCNT ENST00000359568 human ensembl 74_37 +1 known missense c.1406 p.R469H 0.002 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 112 0 0 60 24 28.5714 DIP2A 0 genome.wustl.edu 37 21 47966860 47966860 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 21 47966860 47966860 C T SNP DIP2A ENST00000318711 human ensembl 74_37 +1 known silent c.2430 p.D810 0.202 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2A HGNC ENSG00000160305 33 0 0 31 11 26.1905 CLTCL1 0 genome.wustl.edu 37 22 19175559 19175559 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 22 19175559 19175559 C A SNP CLTCL1 ENST00000263200 human ensembl 74_37 -1 known missense c.4368 p.Q1456H 1.000 pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTCL1 HGNC ENSG00000070371 250 1 0.398406 186 57 23.4568 ARVCF 0 genome.wustl.edu 37 22 19969175 19969175 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 22 19969175 19969175 C T SNP ARVCF ENST00000263207 human ensembl 74_37 -1 known missense c.455 p.G152D 0.817 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARVCF HGNC ENSG00000099889 98 0 0 96 36 27.2727 ZDHHC8 0 genome.wustl.edu 37 22 20130522 20130522 + Missense_Mutation SNP C C G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 22 20130522 20130522 C G SNP ZDHHC8 ENST00000405930 human ensembl 74_37 +1 known missense c.1369 p.P457A 0.997 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC8 HGNC ENSG00000099904 60 0 0 58 20 25.641 KLHL22 0 genome.wustl.edu 37 22 20819312 20819312 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 22 20819312 20819312 G A SNP KLHL22 ENST00000328879 human ensembl 74_37 -1 known silent c.945 p.S315 0.348 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL22 HGNC ENSG00000099910 158 0 0 125 33 20.8861 KLHL22 0 genome.wustl.edu 37 22 20838317 20838317 + RNA SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 22 20838317 20838317 C T SNP KLHL22 ENST00000470335 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors KLHL22 HGNC ENSG00000099910 74 0 0 50 14 21.875 AIFM3 0 genome.wustl.edu 37 22 21331366 21331366 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 22 21331366 21331366 G A SNP AIFM3 ENST00000399167 human ensembl 74_37 +1 known missense c.1264 p.V422I 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Pyridine_nuc-diS_OxRdtase_2 - no_errors AIFM3 HGNC ENSG00000183773 81 0 0 53 12 18.4615 BMS1P20 0 genome.wustl.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 22 22664606 22664606 A G SNP BMS1P20 ENST00000426066 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors BMS1P20 HGNC ENSG00000236850 31 0 0 16 3 15.7895 CABIN1 0 genome.wustl.edu 37 22 24487673 24487673 + Missense_Mutation SNP A A C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 22 24487673 24487673 A C SNP CABIN1 ENST00000263119 human ensembl 74_37 +1 known missense c.3662 p.Q1221P 1.000 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 137 0 0 100 46 31.5068 UPB1 0 genome.wustl.edu 37 22 24916395 24916395 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 22 24916395 24916395 G T SNP UPB1 ENST00000326010 human ensembl 74_37 +1 known missense c.832 p.A278S 1.000 superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase - no_errors UPB1 HGNC ENSG00000100024 52 0 0 26 9 25.7143 TPST2 0 genome.wustl.edu 37 22 26937268 26937268 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 22 26937268 26937268 C T SNP TPST2 ENST00000338754 human ensembl 74_37 -1 known missense c.329 p.R110H 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors TPST2 HGNC ENSG00000128294 66 0 0 43 17 28.3333 MN1 0 genome.wustl.edu 37 22 28196314 28196314 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 22 28196314 28196314 C T SNP MN1 ENST00000302326 human ensembl 74_37 -1 known missense c.218 p.R73H 0.999 NULL NULL - no_errors MN1 HGNC ENSG00000169184 60 0 0 59 13 18.0556 ASCC2 0 genome.wustl.edu 37 22 30221642 30221642 + Missense_Mutation SNP A A C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 22 30221642 30221642 A C SNP ASCC2 ENST00000307790 human ensembl 74_37 -1 known missense c.209 p.L70R 1.000 NULL pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE - no_errors ASCC2 HGNC ENSG00000100325 153 0 0 98 37 27.4074 SF3A1 0 genome.wustl.edu 37 22 30734814 30734814 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 22 30734814 30734814 C T SNP SF3A1 ENST00000215793 human ensembl 74_37 -1 known silent c.1707 p.S569 0.007 NULL pfam_PRP21-like,pfam_Surp,pfam_Ubiquitin_dom,superfamily_Surp,smart_Surp,smart_Ubiquitin_dom,pfscan_Surp,pfscan_Ubiquitin_supergroup - no_errors SF3A1 HGNC ENSG00000099995 154 1 0.645161 127 46 26.5896 PATZ1 0 genome.wustl.edu 37 22 31741335 31741335 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 22 31741335 31741335 G A SNP PATZ1 ENST00000266269 human ensembl 74_37 -1 known missense c.254 p.A85V 0.068 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors PATZ1 HGNC ENSG00000100105 65 0 0 51 25 32.8947 MYH9 0 genome.wustl.edu 37 22 36684430 36684430 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 22 36684430 36684430 G A SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known silent c.4800 p.D1600 0.568 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 131 1 0.757576 85 35 29.1667 TEX33 0 genome.wustl.edu 37 22 37395938 37395938 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 22 37395938 37395938 A G SNP TEX33 ENST00000381821 human ensembl 74_37 -1 known missense c.577 p.S193P 0.016 NULL NULL - no_errors TEX33 HGNC ENSG00000185264 87 0 0 67 24 26.3736 TMPRSS6 0 genome.wustl.edu 37 22 37482378 37482378 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 22 37482378 37482378 G A SNP TMPRSS6 ENST00000381792 human ensembl 74_37 -1 known silent c.918 p.G306 0.723 pirsf_Pept_S1A_matriptase-2,superfamily_CUB_dom pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors TMPRSS6 HGNC ENSG00000187045 43 0 0 19 10 34.4828 C1QTNF6 0 genome.wustl.edu 37 22 37581312 37581312 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 22 37581312 37581312 G A SNP C1QTNF6 ENST00000337843 human ensembl 74_37 -1 known missense c.235 p.R79C 0.003 NULL pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF6 HGNC ENSG00000133466 55 0 0 46 25 35.2113 MICALL1 0 genome.wustl.edu 37 22 38318086 38318086 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 22 38318086 38318086 G A SNP MICALL1 ENST00000215957 human ensembl 74_37 +1 known missense c.677 p.R226Q 0.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICALL1 HGNC ENSG00000100139 87 0 0 57 22 27.8481 KCNJ4 0 genome.wustl.edu 37 22 38824079 38824079 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 22 38824079 38824079 C T SNP KCNJ4 ENST00000303592 human ensembl 74_37 -1 known missense c.59 p.R20H 1.000 pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.3 - no_errors KCNJ4 HGNC ENSG00000168135 475 0 0 313 111 26.1792 APOBEC3B 0 genome.wustl.edu 37 22 39382072 39382072 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 22 39382072 39382072 C A SNP APOBEC3B ENST00000333467 human ensembl 74_37 +1 known missense c.430 p.R144S 0.001 pfam_APOBEC_C,superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3B HGNC ENSG00000179750 149 0 0 107 40 27.2109 APOBEC3D 0 genome.wustl.edu 37 22 39418983 39418983 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 22 39418983 39418983 G A SNP APOBEC3D ENST00000216099 human ensembl 74_37 +1 known silent c.174 p.P58 0.490 pfam_APOBEC_N pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3D HGNC ENSG00000243811 124 0 0 66 25 27.4725 TAB1 0 genome.wustl.edu 37 22 39826200 39826200 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 22 39826200 39826200 C T SNP TAB1 ENST00000216160 human ensembl 74_37 +1 known silent c.1488 p.G496 0.980 NULL pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors TAB1 HGNC ENSG00000100324 138 0 0 91 19 17.2727 EP300 0 genome.wustl.edu 37 22 41543950 41543950 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 22 41543950 41543950 G A SNP EP300 ENST00000263253 human ensembl 74_37 +1 known silent c.2241 p.P747 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 104 0 0 58 22 27.5 TNFRSF13C 0 genome.wustl.edu 37 22 42321471 42321471 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 22 42321471 42321471 G A SNP TNFRSF13C ENST00000291232 human ensembl 74_37 -1 known missense c.455 p.P152L 0.337 NULL pfam_TNFR_13C_TALL-1-bd,prints_TNFR_13C - no_errors TNFRSF13C HGNC ENSG00000159958 95 0 0 64 20 23.8095 TTLL12 0 genome.wustl.edu 37 22 43570381 43570381 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 22 43570381 43570381 G A SNP TTLL12 ENST00000216129 human ensembl 74_37 -1 known silent c.1063 p.L355 1.000 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL12 HGNC ENSG00000100304 93 0 0 69 18 20.6897 SCUBE1 0 genome.wustl.edu 37 22 43623412 43623412 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 22 43623412 43623412 C A SNP SCUBE1 ENST00000360835 human ensembl 74_37 -1 known missense c.1175 p.R392M 0.985 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,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 SCUBE1 HGNC ENSG00000159307 28 0 0 17 13 43.3333 SMC1B 0 genome.wustl.edu 37 22 45750990 45750990 + Silent SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 22 45750990 45750990 T C SNP SMC1B ENST00000357450 human ensembl 74_37 -1 known silent c.2967 p.L989 0.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase,superfamily_t-SNARE pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_t-SNARE,smart_SMC_hinge - no_errors SMC1B HGNC ENSG00000077935 156 0 0 78 31 28.4404 TBC1D22A 0 genome.wustl.edu 37 22 47189608 47189608 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 22 47189608 47189608 G A SNP TBC1D22A ENST00000337137 human ensembl 74_37 +1 known silent c.330 p.G110 0.006 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D22A HGNC ENSG00000054611 43 0 0 31 14 31.1111 MAPK11 0 genome.wustl.edu 37 22 50705416 50705416 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 22 50705416 50705416 C T SNP MAPK11 ENST00000330651 human ensembl 74_37 -1 known missense c.557 p.R186H 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_p38,prints_MAPK_JNK - no_errors MAPK11 HGNC ENSG00000185386 78 0 0 62 13 17.3333 SBF1 0 genome.wustl.edu 37 22 50893694 50893694 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 22 50893694 50893694 A G SNP SBF1 ENST00000380817 human ensembl 74_37 -1 known missense c.4513 p.F1505L 1.000 NULL pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC ENSG00000100241 53 0 0 42 18 30 SHANK3 0 genome.wustl.edu 37 22 51117092 51117092 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 22 51117092 51117092 A G SNP SHANK3 ENST00000262795 human ensembl 74_37 +1 known missense c.419 p.D140G 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK3 HGNC ENSG00000251322 39 0 0 35 9 20.4545 ABI3BP 0 genome.wustl.edu 37 3 100617729 100617729 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 100617729 100617729 C T SNP ABI3BP ENST00000284322 human ensembl 74_37 -1 known missense c.359 p.R120H 0.260 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ABI3BP HGNC ENSG00000154175 185 0 0 122 38 23.75 DZIP3 0 genome.wustl.edu 37 3 108380774 108380774 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 108380774 108380774 G A SNP DZIP3 ENST00000361582 human ensembl 74_37 +1 known silent c.2250 p.R750 0.993 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DZIP3 HGNC ENSG00000198919 40 0 0 28 11 28.2051 BTLA 0 genome.wustl.edu 37 3 112198429 112198429 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 112198429 112198429 C T SNP BTLA ENST00000334529 human ensembl 74_37 -1 known silent c.276 p.E92 0.000 smart_Ig_sub,pfscan_Ig-like_dom smart_Ig_sub,pfscan_Ig-like_dom - no_errors BTLA HGNC ENSG00000186265 159 0 0 80 25 23.8095 SIDT1 0 genome.wustl.edu 37 3 113286534 113286534 + Silent SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 113286534 113286534 C A SNP SIDT1 ENST00000393830 human ensembl 74_37 +1 known silent c.492 p.T164 1.000 NULL NULL - no_errors SIDT1 HGNC ENSG00000072858 174 0 0 137 37 21.2644 ZBTB20 0 genome.wustl.edu 37 3 114057923 114057923 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 114057923 114057923 C T SNP ZBTB20 ENST00000474710 human ensembl 74_37 -1 known missense c.2155 p.V719I 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ENSG00000181722 95 0 0 88 22 20 ZBTB20 0 genome.wustl.edu 37 3 114069414 114069414 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 114069414 114069414 C T SNP ZBTB20 ENST00000474710 human ensembl 74_37 -1 known missense c.1511 p.G504D 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ENSG00000181722 105 0 0 59 23 28.0488 ZBTB20 0 genome.wustl.edu 37 3 114070435 114070435 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 114070435 114070435 G A SNP ZBTB20 ENST00000474710 human ensembl 74_37 -1 known missense c.490 p.R164W 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ENSG00000181722 92 0 0 67 26 27.957 ARHGAP31 0 genome.wustl.edu 37 3 119121032 119121032 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 119121032 119121032 G A SNP ARHGAP31 ENST00000264245 human ensembl 74_37 +1 known missense c.1433 p.R478H 0.759 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 150 1 0.662252 132 41 23.6994 GPR156 0 genome.wustl.edu 37 3 119887227 119887227 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 119887227 119887227 T C SNP GPR156 ENST00000315843 human ensembl 74_37 -1 known missense c.1097 p.N366S 1.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B - no_errors GPR156 HGNC ENSG00000175697 104 0 0 68 22 24.4444 NDUFB4 0 genome.wustl.edu 37 3 120320066 120320066 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 120320066 120320066 C T SNP NDUFB4 ENST00000184266 human ensembl 74_37 +1 known missense c.289 p.P97S 0.995 pfam_NADH_UbQ_OxRdtase_NDUFB4_su pfam_NADH_UbQ_OxRdtase_NDUFB4_su - no_errors NDUFB4 HGNC ENSG00000065518 207 0 0 177 14 7.32984 HCLS1 0 genome.wustl.edu 37 3 121356016 121356016 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 121356016 121356016 G A SNP HCLS1 ENST00000314583 human ensembl 74_37 -1 known missense c.542 p.T181M 1.000 pfam_Hs1_Cortactin,pfscan_Hs1_Cortactin pfam_Hs1_Cortactin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_Hs1_Cortactin,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors HCLS1 HGNC ENSG00000180353 107 0 0 79 32 28.8288 ADCY5 0 genome.wustl.edu 37 3 123046525 123046525 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 123046525 123046525 G A SNP ADCY5 ENST00000462833 human ensembl 74_37 -1 known silent c.1887 p.N629 0.941 pfam_A/G_cyclase,superfamily_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 ADCY5 HGNC ENSG00000173175 45 0 0 52 20 27.7778 ADCY5 0 genome.wustl.edu 37 3 123049848 123049848 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 123049848 123049848 G A SNP ADCY5 ENST00000462833 human ensembl 74_37 -1 known missense c.1534 p.R512C 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 ADCY5 HGNC ENSG00000173175 41 0 0 35 15 30 KALRN 0 genome.wustl.edu 37 3 124351480 124351480 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 124351480 124351480 G A SNP KALRN ENST00000360013 human ensembl 74_37 +1 known missense c.5390 p.R1797Q 1.000 NULL pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 184 0 0 124 32 20.5128 KALRN 0 genome.wustl.edu 37 3 124436192 124436192 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 124436192 124436192 A G SNP KALRN ENST00000360013 human ensembl 74_37 +1 known missense c.8375 p.Q2792R 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_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 89 0 0 73 19 20.6522 ALG1L 0 genome.wustl.edu 37 3 125648342 125648342 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 125648342 125648342 C T SNP ALG1L ENST00000340333 human ensembl 74_37 -1 known silent c.417 p.S139 0.033 NULL NULL - no_errors ALG1L HGNC ENSG00000189366 81 0 0 43 18 29.5082 MKRN2 0 genome.wustl.edu 37 3 12610389 12610389 + Silent SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 12610389 12610389 T C SNP MKRN2 ENST00000170447 human ensembl 74_37 +1 known silent c.42 p.G14 0.849 smart_Znf_CCCH pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN2 HGNC ENSG00000075975 135 0 0 73 20 21.5054 ZXDC 0 genome.wustl.edu 37 3 126194497 126194497 + Missense_Mutation SNP T T A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 126194497 126194497 T A SNP ZXDC ENST00000389709 human ensembl 74_37 -1 known missense c.212 p.D71V 0.008 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZXDC HGNC ENSG00000070476 14 0 0 12 10 45.4545 CHST13 0 genome.wustl.edu 37 3 126261102 126261102 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 126261102 126261102 G A SNP CHST13 ENST00000319340 human ensembl 74_37 +1 known missense c.707 p.R236H 0.926 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST13 HGNC ENSG00000180767 9 0 0 17 3 15 PLXNA1 0 genome.wustl.edu 37 3 126724067 126724067 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 126724067 126724067 G A SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known silent c.1878 p.A626 0.881 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA1 HGNC ENSG00000114554 26 0 0 17 5 22.7273 PODXL2 0 genome.wustl.edu 37 3 127379825 127379825 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 127379825 127379825 C T SNP PODXL2 ENST00000342480 human ensembl 74_37 +1 known silent c.954 p.A318 0.004 NULL pfam_CD34/Podocalyxin - no_errors PODXL2 HGNC ENSG00000114631 104 0 0 98 19 16.2393 PLXND1 0 genome.wustl.edu 37 3 129284805 129284805 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 129284805 129284805 A G SNP PLXND1 ENST00000324093 human ensembl 74_37 -1 known missense c.4247 p.L1416P 0.865 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXND1 HGNC ENSG00000004399 48 0 0 39 18 31.5789 COL6A6 0 genome.wustl.edu 37 3 130284257 130284257 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 130284257 130284257 A G SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known missense c.1081 p.T361A 0.738 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 200 0 0 154 44 22.2222 C3orf36 0 genome.wustl.edu 37 3 133647227 133647227 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 133647227 133647227 A G SNP C3orf36 ENST00000408895 human ensembl 74_37 -1 known missense c.421 p.S141P 0.000 NULL NULL - no_errors C3orf36 HGNC ENSG00000221972 65 0 0 39 18 31.5789 C3orf36 0 genome.wustl.edu 37 3 133647277 133647277 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 133647277 133647277 C T SNP C3orf36 ENST00000408895 human ensembl 74_37 -1 known missense c.371 p.R124H 0.002 NULL NULL - no_errors C3orf36 HGNC ENSG00000221972 39 0 0 44 7 13.7255 NUP210 0 genome.wustl.edu 37 3 13427823 13427823 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 13427823 13427823 T C SNP NUP210 ENST00000254508 human ensembl 74_37 -1 known missense c.769 p.T257A 1.000 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2 - no_errors NUP210 HGNC ENSG00000132182 158 0 0 97 27 21.7742 MSL2 0 genome.wustl.edu 37 3 135870724 135870724 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 135870724 135870724 C T SNP MSL2 ENST00000309993 human ensembl 74_37 -1 known silent c.999 p.P333 1.000 NULL pfscan_Znf_RING - no_errors MSL2 HGNC ENSG00000174579 96 0 0 70 23 24.7312 ARMC8 0 genome.wustl.edu 37 3 137964030 137964030 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 137964030 137964030 G A SNP ARMC8 ENST00000358441 human ensembl 74_37 +1 known missense c.1097 p.S366N 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC8 HGNC ENSG00000114098 79 0 0 54 14 20.5882 PRR23B 0 genome.wustl.edu 37 3 138739311 138739311 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 138739311 138739311 C T SNP PRR23B ENST00000329447 human ensembl 74_37 -1 known missense c.193 p.A65T 0.000 pfam_UPF0572 pfam_UPF0572 - no_errors PRR23B HGNC ENSG00000184814 35 0 0 29 7 19.4444 CLSTN2 0 genome.wustl.edu 37 3 140282845 140282845 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 140282845 140282845 G A SNP CLSTN2 ENST00000458420 human ensembl 74_37 +1 known missense c.2525 p.C842Y 1.000 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC ENSG00000158258 216 0 0 152 64 29.6296 XRN1 0 genome.wustl.edu 37 3 142075828 142075828 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 142075828 142075828 A G SNP XRN1 ENST00000264951 human ensembl 74_37 -1 known missense c.3598 p.S1200P 0.059 pirsf_5_3_exoribonuclease_1 pfam_Put_53exo,pirsf_5_3_exoribonuclease_1 - no_errors XRN1 HGNC ENSG00000114127 63 0 0 33 11 25 TRPC1 0 genome.wustl.edu 37 3 142443499 142443499 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 142443499 142443499 C T SNP TRPC1 ENST00000476941 human ensembl 74_37 +1 known missense c.98 p.A33V 1.000 prints_TRPC1_channel pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC1 HGNC ENSG00000144935 61 0 0 36 10 21.7391 PBX2P1 0 genome.wustl.edu 37 3 142895905 142895905 + RNA SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 142895905 142895905 G A SNP PBX2P1 ENST00000560287 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PBX2P1 HGNC ENSG00000244171 24 0 0 15 4 21.0526 SLC6A6 0 genome.wustl.edu 37 3 14485232 14485232 + Silent SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 14485232 14485232 T C SNP SLC6A6 ENST00000360861 human ensembl 74_37 +1 known silent c.90 p.P30 0.835 NULL pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_taurine - no_errors SLC6A6 HGNC ENSG00000131389 123 0 0 122 28 18.6667 CCDC174 0 genome.wustl.edu 37 3 14693376 14693376 + Silent SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 14693376 14693376 G T SNP CCDC174 ENST00000383794 human ensembl 74_37 +1 known silent c.33 p.T11 0.770 NULL NULL - no_errors CCDC174 HGNC ENSG00000154781 48 0 0 35 13 27.0833 ZIC4 0 genome.wustl.edu 37 3 147113965 147113965 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 147113965 147113965 C T SNP ZIC4 ENST00000525172 human ensembl 74_37 -1 known missense c.512 p.R171H 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC4 HGNC ENSG00000174963 107 0 0 45 28 38.3562 C3orf33 0 genome.wustl.edu 37 3 155485443 155485443 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 155485443 155485443 G A SNP C3orf33 ENST00000340171 human ensembl 74_37 -1 known missense c.338 p.A113V 0.000 superfamily_Staphylococal_nuclease_OB-fold superfamily_Staphylococal_nuclease_OB-fold - no_errors C3orf33 HGNC ENSG00000174928 21 0 0 12 3 20 GFM1 0 genome.wustl.edu 37 3 158363985 158363985 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 158363985 158363985 T C SNP GFM1 ENST00000486715 human ensembl 74_37 +1 known missense c.266 p.M89T 1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,tigrfam_Transl_elong_EFG/EF2,tigrfam_Small_GTP-bd_dom pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EFG/EF2,tigrfam_Small_GTP-bd_dom - no_errors GFM1 HGNC ENSG00000168827 108 0 0 72 26 26.5306 NAALADL2 0 genome.wustl.edu 37 3 174974311 174974311 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 174974311 174974311 C T SNP NAALADL2 ENST00000454872 human ensembl 74_37 +1 known missense c.931 p.L311F 1.000 NULL superfamily_TFR-like_dimer_dom - no_errors NAALADL2 HGNC ENSG00000177694 38 0 0 26 12 31.5789 PIK3CA 0 genome.wustl.edu 37 3 178916876 178916876 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 178916876 178916876 G A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.263 p.R88Q 1.000 pfam_PI3K_adapt-bd_dom,smart_PI3K_adapt-bd_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 104 0 0 82 28 25.4545 PIK3CA 0 genome.wustl.edu 37 3 178922363 178922363 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 178922363 178922363 T C SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.1132 p.C378R 1.000 pfam_PI3K_C2_dom,superfamily_C2_dom,smart_PI3K_C2_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 74 0 0 59 23 28.0488 YEATS2-AS1 0 genome.wustl.edu 37 3 183526763 183526763 + RNA SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 183526763 183526763 G T SNP YEATS2-AS1 ENST00000425008 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors YEATS2-AS1 HGNC ENSG00000233885 32 0 0 16 5 23.8095 PSMD2 0 genome.wustl.edu 37 3 184026652 184026652 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 184026652 184026652 C T SNP PSMD2 ENST00000310118 human ensembl 74_37 +1 known missense c.2701 p.R901W 1.000 pirsf_26S_Psome_Rpn1 pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1 - no_errors PSMD2 HGNC ENSG00000175166 169 0 0 119 36 23.2258 EIF4G1 0 genome.wustl.edu 37 3 184043072 184043072 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 184043072 184043072 T C SNP EIF4G1 ENST00000352767 human ensembl 74_37 +1 known missense c.2893 p.Y965H 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G1 HGNC ENSG00000114867 117 0 0 87 28 24.3478 KCNH8 0 genome.wustl.edu 37 3 19491653 19491653 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 19491653 19491653 C T SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known silent c.1431 p.Y477 1.000 superfamily_cNMP-bd-like pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 93 0 0 56 18 24.3243 MUC4 0 genome.wustl.edu 37 3 195488973 195488973 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 195488973 195488973 T C SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.14497 p.T4833A 0.809 pfam_VWF_type-D,smart_VWF_type-D pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 14 0 0 9 7 43.75 WDR53 0 genome.wustl.edu 37 3 196287913 196287913 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 196287913 196287913 C T SNP WDR53 ENST00000332629 human ensembl 74_37 -1 known missense c.434 p.R145Q 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR53 HGNC ENSG00000185798 118 0 0 58 28 32.5581 NRROS 0 genome.wustl.edu 37 3 196386986 196386986 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 196386986 196386986 T C SNP NRROS ENST00000328557 human ensembl 74_37 +1 known missense c.472 p.S158P 0.996 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors NRROS HGNC ENSG00000174004 68 0 0 49 17 25.7576 TRIM71 0 genome.wustl.edu 37 3 32859727 32859727 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 32859727 32859727 C T SNP TRIM71 ENST00000383763 human ensembl 74_37 +1 known missense c.155 p.A52V 0.996 smart_Znf_RING,pfscan_Znf_RING pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM71 HGNC ENSG00000206557 21 0 0 15 4 21.0526 SLC22A14 0 genome.wustl.edu 37 3 38357186 38357186 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 38357186 38357186 C A SNP SLC22A14 ENST00000273173 human ensembl 74_37 +1 known missense c.1516 p.L506I 0.840 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A14 HGNC ENSG00000144671 188 1 0.529101 141 48 25.3968 SCN10A 0 genome.wustl.edu 37 3 38765017 38765017 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 38765017 38765017 C A SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known missense c.3256 p.G1086C 1.000 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 25 0 0 12 6 33.3333 SCN10A 0 genome.wustl.edu 37 3 38768219 38768219 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 38768219 38768219 C T SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known missense c.2965 p.A989T 0.040 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 97 0 0 85 17 16.6667 KLHL40 0 genome.wustl.edu 37 3 42727236 42727236 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 42727236 42727236 C T SNP KLHL40 ENST00000287777 human ensembl 74_37 +1 known silent c.126 p.R42 0.998 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL40 HGNC ENSG00000157119 55 0 0 42 18 30 CCDC13 0 genome.wustl.edu 37 3 42793519 42793519 + Splice_Site SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 42793519 42793519 T C SNP CCDC13 ENST00000310232 human ensembl 74_37 -1 known splice_site c.514-2 e4-2 1.000 - - - no_errors CCDC13 HGNC ENSG00000244607 82 0 0 74 20 21.2766 TCAIM 0 genome.wustl.edu 37 3 44449212 44449212 + RNA SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 44449212 44449212 G T SNP TCAIM ENST00000469246 human ensembl 74_37 +1 known rna NULL NULL 0.010 - - - no_errors TCAIM HGNC ENSG00000179152 35 0 0 17 9 34.6154 FYCO1 0 genome.wustl.edu 37 3 46008259 46008259 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 46008259 46008259 T C SNP FYCO1 ENST00000535325 human ensembl 74_37 -1 known missense c.2567 p.Q856R 0.859 NULL pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors FYCO1 HGNC ENSG00000163820 65 0 0 46 17 26.9841 ITPR1 0 genome.wustl.edu 37 3 4718358 4718358 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 4718358 4718358 G A SNP ITPR1 ENST00000302640 human ensembl 74_37 +1 known missense c.2795 p.R932Q 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 54 0 0 23 9 28.125 PTPN23 0 genome.wustl.edu 37 3 47447502 47447502 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 47447502 47447502 G A SNP PTPN23 ENST00000265562 human ensembl 74_37 +1 known missense c.512 p.R171H 1.000 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN23 HGNC ENSG00000076201 44 0 0 22 9 29.0323 COL7A1 0 genome.wustl.edu 37 3 48626315 48626315 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 48626315 48626315 C A SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known missense c.2428 p.G810C 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 88 0 0 61 26 29.8851 WDR6 0 genome.wustl.edu 37 3 49050488 49050488 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 49050488 49050488 G A SNP WDR6 ENST00000395474 human ensembl 74_37 +1 known silent c.1611 p.V537 0.957 superfamily_Quino_amine_DH_bsu,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR6 HGNC ENSG00000178252 63 0 0 58 23 28.3951 NDUFAF3 0 genome.wustl.edu 37 3 49060598 49060598 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 49060598 49060598 C T SNP NDUFAF3 ENST00000326925 human ensembl 74_37 +1 known missense c.548 p.A183V 0.126 NULL pfam_NADH_Ub_cplx-1_asu_assmbl-fac3,superfamily_NADH_Ub_cplx-1_asu_assmbl-fac3 - no_errors NDUFAF3 HGNC ENSG00000178057 110 0 0 71 13 15.4762 UBA7 0 genome.wustl.edu 37 3 49848752 49848752 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 49848752 49848752 G T SNP UBA7 ENST00000333486 human ensembl 74_37 -1 known missense c.1076 p.P359H 1.000 superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ub-activating_enz_e1_C,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA7 HGNC ENSG00000182179 98 0 0 60 30 33.3333 RBM6 0 genome.wustl.edu 37 3 50103805 50103805 + Missense_Mutation SNP A A C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 50103805 50103805 A C SNP RBM6 ENST00000266022 human ensembl 74_37 +1 known missense c.2813 p.E938A 0.930 NULL pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC ENSG00000004534 148 0 0 89 26 22.6087 RBM5 0 genome.wustl.edu 37 3 50129540 50129540 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 50129540 50129540 C T SNP RBM5 ENST00000347869 human ensembl 74_37 +1 known missense c.82 p.R28C 0.997 NULL pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM5 HGNC ENSG00000003756 100 0 0 58 13 18.3099 SEMA3F 0 genome.wustl.edu 37 3 50220116 50220116 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 50220116 50220116 C T SNP SEMA3F ENST00000002829 human ensembl 74_37 +1 known missense c.803 p.A268V 0.942 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3F HGNC ENSG00000001617 106 0 0 77 38 33.0435 IFRD2 0 genome.wustl.edu 37 3 50328082 50328082 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 50328082 50328082 C T SNP IFRD2 ENST00000336089 human ensembl 74_37 -1 known silent c.585 p.S195 0.608 NULL pfam_Interferon-rel_develop_reg_N,pfam_Interferon-rel_develop_reg_C,superfamily_ARM-type_fold - no_errors IFRD2 HGNC ENSG00000214706 44 0 0 33 10 23.2558 CACNA2D2 0 genome.wustl.edu 37 3 50418437 50418437 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 50418437 50418437 C A SNP CACNA2D2 ENST00000435965 human ensembl 74_37 -1 known missense c.773 p.R258L 1.000 pfam_VWA_N pfam_VWA_N,pfam_VDCC_a2/dsu,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D2 HGNC ENSG00000007402 115 0 0 89 41 31.5385 DNAH1 0 genome.wustl.edu 37 3 52391683 52391683 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 52391683 52391683 C A SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known missense c.3912 p.N1304K 1.000 pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 15 0 0 14 3 17.6471 RFT1 0 genome.wustl.edu 37 3 53126558 53126558 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 53126558 53126558 C T SNP RFT1 ENST00000296292 human ensembl 74_37 -1 known missense c.1285 p.V429M 0.998 pfam_RFT1 pfam_RFT1 - no_errors RFT1 HGNC ENSG00000163933 20 0 0 15 9 37.5 CHDH 0 genome.wustl.edu 37 3 53854583 53854583 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 53854583 53854583 G A SNP CHDH ENST00000315251 human ensembl 74_37 -1 known silent c.1038 p.C346 1.000 pirsf_GMC_OxRdtase pfam_GMC_OxRdtase_N,pfam_GMC_OxRtase_C,pirsf_GMC_OxRdtase - no_errors CHDH HGNC ENSG00000016391 163 0 0 117 8 6.4 SLMAP 0 genome.wustl.edu 37 3 57847813 57847813 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 57847813 57847813 G T SNP SLMAP ENST00000428312 human ensembl 74_37 +1 known missense c.966 p.K322N 1.000 NULL pfam_FHA_dom,pfam_PFD_beta-like,superfamily_SMAD_FHA_domain,superfamily_Prefoldin,smart_FHA_dom,pfscan_FHA_dom - no_errors SLMAP HGNC ENSG00000163681 104 0 0 95 25 20.8333 FEZF2 0 genome.wustl.edu 37 3 62357003 62357003 + Missense_Mutation SNP G G C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 62357003 62357003 G C SNP FEZF2 ENST00000283268 human ensembl 74_37 -1 known missense c.1009 p.Q337E 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FEZF2 HGNC ENSG00000153266 102 0 0 80 30 27.2727 FEZF2 0 genome.wustl.edu 37 3 62358211 62358211 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 62358211 62358211 G A SNP FEZF2 ENST00000283268 human ensembl 74_37 -1 known silent c.333 p.G111 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FEZF2 HGNC ENSG00000153266 10 0 0 8 4 33.3333 PRICKLE2 0 genome.wustl.edu 37 3 64142957 64142957 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 64142957 64142957 C T SNP PRICKLE2 ENST00000295902 human ensembl 74_37 -1 known missense c.481 p.V161I 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE2 HGNC ENSG00000163637 78 0 0 45 19 29.6875 CNTN3 0 genome.wustl.edu 37 3 74315771 74315771 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 74315771 74315771 G A SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known silent c.2847 p.N949 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN3 HGNC ENSG00000113805 137 0 0 81 35 30.1724 ROBO2 0 genome.wustl.edu 37 3 77607297 77607297 + Silent SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 77607297 77607297 A G SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known silent c.1434 p.L478 0.984 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 67 0 0 63 20 24.0964 ROBO2 0 genome.wustl.edu 37 3 77666946 77666946 + RNA SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 77666946 77666946 A G SNP ROBO2 ENST00000469233 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ROBO2 HGNC ENSG00000185008 41 0 0 25 8 24.2424 CADM2 0 genome.wustl.edu 37 3 85961603 85961603 + Missense_Mutation SNP A A T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 85961603 85961603 A T SNP CADM2 ENST00000405615 human ensembl 74_37 +1 known missense c.589 p.S197C 0.710 pfam_CD80_C2-set,pfam_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM2 HGNC ENSG00000175161 87 0 0 58 22 27.5 ZNF654 0 genome.wustl.edu 37 3 88189154 88189154 + Nonsense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 88189154 88189154 C T SNP ZNF654 ENST00000309495 human ensembl 74_37 +1 known nonsense c.694 p.Q232* 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF654 HGNC ENSG00000175105 42 0 0 27 15 35.7143 RAD18 0 genome.wustl.edu 37 3 8944129 8944129 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 8944129 8944129 G A SNP RAD18 ENST00000264926 human ensembl 74_37 -1 known missense c.1103 p.S368L 0.000 NULL pfam_SAP_dom,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_Rad18_put,smart_SAP_dom,pfscan_Znf_RING,pfscan_SAP_dom - no_errors RAD18 HGNC ENSG00000070950 34 0 0 32 8 20 MTHFD2P1 0 genome.wustl.edu 37 3 95374367 95374367 + RNA SNP T T G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 95374367 95374367 T G SNP MTHFD2P1 ENST00000494840 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MTHFD2P1 HGNC ENSG00000244681 89 0 0 72 5 6.49351 BRPF1 0 genome.wustl.edu 37 3 9781016 9781016 + Silent SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 9781016 9781016 T C SNP BRPF1 ENST00000383829 human ensembl 74_37 +1 known silent c.933 p.P311 0.973 superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF1 HGNC ENSG00000156983 129 0 0 102 34 25 GPR15 0 genome.wustl.edu 37 3 98251363 98251363 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 98251363 98251363 C T SNP GPR15 ENST00000284311 human ensembl 74_37 +1 known silent c.486 p.C162 0.996 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srg,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srg,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_ATII_rcpt - no_errors GPR15 HGNC ENSG00000154165 90 0 0 50 18 26.4706 FILIP1L 0 genome.wustl.edu 37 3 99567357 99567357 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 99567357 99567357 T C SNP FILIP1L ENST00000354552 human ensembl 74_37 -1 known missense c.3163 p.I1055V 1.000 NULL pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin - no_errors FILIP1L HGNC ENSG00000168386 240 0 0 183 53 22.4576 CYP2U1 0 genome.wustl.edu 37 4 108871514 108871514 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 108871514 108871514 C A SNP CYP2U1 ENST00000332884 human ensembl 74_37 +1 known missense c.1570 p.L524M 0.041 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B,prints_Cyt_P450_E_grp-I_CYP2D-like - no_errors CYP2U1 HGNC ENSG00000155016 95 0 0 50 6 10.7143 ALPK1 0 genome.wustl.edu 37 4 113352014 113352014 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 113352014 113352014 C T SNP ALPK1 ENST00000177648 human ensembl 74_37 +1 known silent c.1311 p.F437 0.946 NULL pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors ALPK1 HGNC ENSG00000073331 86 0 0 60 21 25.9259 RPS26P11 0 genome.wustl.edu 37 4 114135499 114135499 + RNA SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 114135499 114135499 G A SNP RPS26P11 ENST00000356247 human ensembl 74_37 -1 putative rna NULL NULL 0.992 - - - no_errors AC004057.1 Clone_based_vega_gene ENSG00000196656 21 0 0 17 8 32 ANK2 0 genome.wustl.edu 37 4 114275552 114275552 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 114275552 114275552 G A SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known silent c.5778 p.P1926 0.005 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 109 0 0 78 27 25.7143 CTBP1 0 genome.wustl.edu 37 4 1207322 1207322 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 1207322 1207322 T C SNP CTBP1 ENST00000290921 human ensembl 74_37 -1 known missense c.965 p.Q322R 1.000 pfam_D-isomer_2_OHA_DH_cat_dom pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,pfam_6PGDH_NADP-bd - no_errors CTBP1 HGNC ENSG00000159692 92 0 0 67 20 22.9885 ADAD1 0 genome.wustl.edu 37 4 123350870 123350870 + Silent SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 123350870 123350870 C A SNP ADAD1 ENST00000296513 human ensembl 74_37 +1 known silent c.1707 p.P569 0.997 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADAD1 HGNC ENSG00000164113 93 0 0 56 21 27.2727 ANKRD50 0 genome.wustl.edu 37 4 125590622 125590622 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 125590622 125590622 C T SNP ANKRD50 ENST00000504087 human ensembl 74_37 -1 known silent c.3810 p.G1270 0.663 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD50 HGNC ENSG00000151458 246 0 0 216 12 5.26316 FAT4 0 genome.wustl.edu 37 4 126411264 126411264 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 126411264 126411264 C A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.13287 p.D4429E 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 150 0 0 155 45 22.5 SLC25A31 0 genome.wustl.edu 37 4 128688241 128688241 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 128688241 128688241 A G SNP SLC25A31 ENST00000281154 human ensembl 74_37 +1 known missense c.499 p.K167E 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor - no_errors SLC25A31 HGNC ENSG00000151475 82 0 0 61 19 23.75 MAEA 0 genome.wustl.edu 37 4 1326598 1326598 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 1326598 1326598 G A SNP MAEA ENST00000303400 human ensembl 74_37 +1 known missense c.710 p.R237H 1.000 smart_CRA_dom smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors MAEA HGNC ENSG00000090316 41 0 0 35 12 25.5319 PCDH10 0 genome.wustl.edu 37 4 134073056 134073056 + Silent SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 134073056 134073056 T C SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known silent c.1761 p.R587 0.988 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 76 0 0 54 24 30.7692 NKX3-2 0 genome.wustl.edu 37 4 13545772 13545772 + Silent SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 13545772 13545772 T C SNP NKX3-2 ENST00000382438 human ensembl 74_37 -1 known silent c.267 p.E89 0.482 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX3-2 HGNC ENSG00000109705 22 0 0 12 9 42.8571 BOD1L1 0 genome.wustl.edu 37 4 13602317 13602317 + Missense_Mutation SNP T T G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 13602317 13602317 T G SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known missense c.6207 p.K2069N 0.645 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 47 0 0 35 6 14.6341 CRIPAK 0 genome.wustl.edu 37 4 1388615 1388615 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 1388615 1388615 C T SNP CRIPAK ENST00000324803 human ensembl 74_37 +1 known missense c.316 p.R106C 0.002 smart_Post-SET_dom smart_Post-SET_dom - no_errors CRIPAK HGNC ENSG00000179979 350 0 0 235 162 40.806 ELF2 0 genome.wustl.edu 37 4 139993141 139993141 + Silent SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 139993141 139993141 A G SNP ELF2 ENST00000379550 human ensembl 74_37 -1 known silent c.405 p.A135 0.999 NULL pfam_TF_Elf_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELF2 HGNC ENSG00000109381 101 0 0 48 18 27.2727 TBC1D9 0 genome.wustl.edu 37 4 141555219 141555219 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 141555219 141555219 G T SNP TBC1D9 ENST00000442267 human ensembl 74_37 -1 known missense c.2629 p.L877I 0.772 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9 HGNC ENSG00000109436 55 0 0 51 11 17.7419 ZNF827 0 genome.wustl.edu 37 4 146824094 146824094 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 146824094 146824094 G A SNP ZNF827 ENST00000508784 human ensembl 74_37 -1 known missense c.317 p.S106F 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF827 HGNC ENSG00000151612 75 0 0 67 22 24.7191 POU4F2 0 genome.wustl.edu 37 4 147560460 147560460 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 147560460 147560460 C T SNP POU4F2 ENST00000281321 human ensembl 74_37 +1 known silent c.168 p.G56 0.987 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F2 HGNC ENSG00000151615 11 0 0 13 4 23.5294 LRBA 0 genome.wustl.edu 37 4 151814245 151814245 + Silent SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 151814245 151814245 A G SNP LRBA ENST00000357115 human ensembl 74_37 -1 known silent c.2124 p.P708 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom - no_errors LRBA HGNC ENSG00000198589 29 0 0 25 6 19.3548 PRSS48 0 genome.wustl.edu 37 4 152203538 152203538 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 152203538 152203538 G A SNP PRSS48 ENST00000455694 human ensembl 74_37 +1 known missense c.454 p.G152R 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS48 HGNC ENSG00000189099 109 0 0 66 18 21.4286 FHDC1 0 genome.wustl.edu 37 4 153897805 153897805 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 153897805 153897805 G A SNP FHDC1 ENST00000260008 human ensembl 74_37 +1 known missense c.3362 p.R1121K 0.623 NULL pfam_FH2_Formin,smart_FH2_Formin - no_errors FHDC1 HGNC ENSG00000137460 23 0 0 11 9 45 DCHS2 0 genome.wustl.edu 37 4 155253876 155253876 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 155253876 155253876 C T SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.1987 p.A663T 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 135 0 0 89 20 18.3486 TDO2 0 genome.wustl.edu 37 4 156841067 156841067 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 156841067 156841067 C A SNP TDO2 ENST00000536354 human ensembl 74_37 +1 known missense c.1146 p.N382K 0.883 NULL pfam_Trp_2_3_dOase - no_errors TDO2 HGNC ENSG00000151790 45 0 0 30 12 28.5714 GLRB 0 genome.wustl.edu 37 4 158065087 158065087 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 158065087 158065087 G A SNP GLRB ENST00000264428 human ensembl 74_37 +1 known missense c.880 p.A294T 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_B,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRB HGNC ENSG00000109738 98 0 0 73 25 25.5102 TMEM144 0 genome.wustl.edu 37 4 159165463 159165463 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 159165463 159165463 G T SNP TMEM144 ENST00000296529 human ensembl 74_37 +1 known missense c.916 p.A306S 1.000 pfam_Sugar_transport pfam_DUF1632_TMEM144,pfam_Sugar_transport - no_errors TMEM144 HGNC ENSG00000164124 78 0 0 71 24 25.2632 FSTL5 0 genome.wustl.edu 37 4 162577520 162577520 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 162577520 162577520 T C SNP FSTL5 ENST00000306100 human ensembl 74_37 -1 known missense c.854 p.N285S 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL5 HGNC ENSG00000168843 44 0 0 27 8 22.8571 NEK1 0 genome.wustl.edu 37 4 170400581 170400581 + Silent SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 170400581 170400581 T C SNP NEK1 ENST00000507142 human ensembl 74_37 -1 known silent c.2112 p.V704 0.933 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK1 HGNC ENSG00000137601 76 0 0 35 14 28.5714 LETM1 0 genome.wustl.edu 37 4 1843251 1843251 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 1843251 1843251 C T SNP LETM1 ENST00000302787 human ensembl 74_37 -1 known silent c.417 p.P139 0.013 NULL pfam_LETM1,pfscan_EF_hand_dom - no_errors LETM1 HGNC ENSG00000168924 76 0 0 55 18 24.6575 TRIML2 0 genome.wustl.edu 37 4 189020263 189020263 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 189020263 189020263 G T SNP TRIML2 ENST00000512729 human ensembl 74_37 -1 known missense c.397 p.Q133K 0.051 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors TRIML2 HGNC ENSG00000179046 132 0 0 75 27 26.4706 TRIML1 0 genome.wustl.edu 37 4 189061099 189061099 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 189061099 189061099 C T SNP TRIML1 ENST00000332517 human ensembl 74_37 +1 known silent c.387 p.S129 0.055 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIML1 HGNC ENSG00000184108 80 0 0 51 19 27.1429 WHSC1 0 genome.wustl.edu 37 4 1954995 1954995 + Silent SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 1954995 1954995 A G SNP WHSC1 ENST00000382888 human ensembl 74_37 +1 known silent c.126 p.Q42 0.000 NULL pfam_SET_dom,pfam_PWWP_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_PWWP_dom,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,pfscan_Znf_RING - no_errors WHSC1 HGNC ENSG00000109685 42 0 0 19 6 24 WHSC1 0 genome.wustl.edu 37 4 1980533 1980533 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 1980533 1980533 C T SNP WHSC1 ENST00000382891 human ensembl 74_37 +1 known missense c.3995 p.S1332L 0.011 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,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,pfscan_Znf_RING,pfscan_HMG_box_dom - no_errors WHSC1 HGNC ENSG00000109685 60 0 0 40 21 34.4262 CCKAR 0 genome.wustl.edu 37 4 26483341 26483341 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 26483341 26483341 C A SNP CCKAR ENST00000295589 human ensembl 74_37 -1 known missense c.1206 p.E402D 0.997 prints_Cholcy_rcpt_A,prints_Gastrin_rcpt pfam_GPCR_Rhodpsn,pfam_CholecystokininA_recpt_N,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Cholcy_rcpt_A,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_Gastrin_rcpt,prints_NPY_rcpt - no_errors CCKAR HGNC ENSG00000163394 177 0 0 102 37 26.6187 NOP14 0 genome.wustl.edu 37 4 2943337 2943337 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 2943337 2943337 G A SNP NOP14 ENST00000416614 human ensembl 74_37 -1 known missense c.2171 p.A724V 0.004 pfam_Nop14 pfam_Nop14 - no_errors NOP14 HGNC ENSG00000087269 35 0 0 24 7 22.5806 HTT 0 genome.wustl.edu 37 4 3219644 3219644 + Missense_Mutation SNP C C G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 3219644 3219644 C G SNP HTT ENST00000355072 human ensembl 74_37 +1 known missense c.7207 p.P2403A 1.000 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 143 1 0.694444 108 18 14.2857 HGFAC 0 genome.wustl.edu 37 4 3449296 3449296 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 3449296 3449296 G A SNP HGFAC ENST00000382774 human ensembl 74_37 +1 known missense c.1433 p.G478D 0.342 pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 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 427 0 0 311 117 27.3364 WDR19 0 genome.wustl.edu 37 4 39246134 39246134 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 39246134 39246134 C T SNP WDR19 ENST00000399820 human ensembl 74_37 +1 known silent c.2607 p.Y869 0.998 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR19 HGNC ENSG00000157796 93 0 0 70 21 23.0769 UGDH 0 genome.wustl.edu 37 4 39511480 39511480 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 39511480 39511480 T C SNP UGDH ENST00000316423 human ensembl 74_37 -1 known missense c.711 p.I237M 1.000 pfam_UDP-Glc/GDP-Man_DH_dimer,superfamily_6-PGluconate_DH_C-like,tigrfam_UDP-Glc/GDP-Man pfam_UDP-Glc/GDP-Man_DH_N,pfam_UDP-Glc/GDP-Man_DH_C,pfam_UDP-Glc/GDP-Man_DH_dimer,superfamily_UDP-Glc/GDP-Man_DH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_UDP-Glc/GDP-Man - no_errors UGDH HGNC ENSG00000109814 80 0 0 46 18 28.125 SMIM14 0 genome.wustl.edu 37 4 39606701 39606701 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 39606701 39606701 A G SNP SMIM14 ENST00000295958 human ensembl 74_37 -1 known missense c.65 p.L22P 1.000 pfam_Uncharacterised_CD034/YQF4 pfam_Uncharacterised_CD034/YQF4 - no_errors SMIM14 HGNC ENSG00000163683 76 0 0 51 11 17.7419 ATP10D 0 genome.wustl.edu 37 4 47538508 47538508 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 47538508 47538508 A G SNP ATP10D ENST00000273859 human ensembl 74_37 +1 known missense c.1070 p.E357G 0.208 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10D HGNC ENSG00000145246 188 0 0 133 50 27.3224 PDGFRA 0 genome.wustl.edu 37 4 55140717 55140717 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 55140717 55140717 G A SNP PDGFRA ENST00000257290 human ensembl 74_37 +1 known silent c.1578 p.T526 0.999 pirsf_Tyr_kinase_CSF1/PDGF_rcpt pirsf_Tyr_kinase_CSF1/PDGF_rcpt,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 - no_errors PDGFRA HGNC ENSG00000134853 118 0 0 79 28 26.1682 KDR 0 genome.wustl.edu 37 4 55956190 55956190 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 55956190 55956190 A G SNP KDR ENST00000263923 human ensembl 74_37 -1 known missense c.3125 p.V1042A 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_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-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_VEGFR2_rcpt - no_errors KDR HGNC ENSG00000128052 127 0 0 64 20 23.8095 CEP135 0 genome.wustl.edu 37 4 56823491 56823491 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 56823491 56823491 A G SNP CEP135 ENST00000257287 human ensembl 74_37 +1 known missense c.575 p.D192G 1.000 NULL superfamily_Prefoldin,superfamily_EB1_C - no_errors CEP135 HGNC ENSG00000174799 119 0 0 64 24 27.2727 KIAA1211 0 genome.wustl.edu 37 4 57182056 57182056 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 57182056 57182056 G A SNP KIAA1211 ENST00000504228 human ensembl 74_37 +1 known silent c.2388 p.P796 0.511 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 106 0 0 83 28 25.2252 EVC 0 genome.wustl.edu 37 4 5733332 5733332 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 5733332 5733332 A G SNP EVC ENST00000264956 human ensembl 74_37 +1 known missense c.565 p.S189G 0.123 NULL NULL - no_errors EVC HGNC ENSG00000072840 101 0 0 68 25 26.8817 REST 0 genome.wustl.edu 37 4 57798281 57798281 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 57798281 57798281 T C SNP REST ENST00000309042 human ensembl 74_37 +1 known missense c.3257 p.V1086A 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors REST HGNC ENSG00000084093 82 0 0 69 36 34.2857 MAN2B2 0 genome.wustl.edu 37 4 6599929 6599929 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 6599929 6599929 A G SNP MAN2B2 ENST00000285599 human ensembl 74_37 +1 known missense c.1253 p.Q418R 1.000 pfam_Glyco_hydro_38_cen_dom,smart_Glyco_hydro_38_cen_dom pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B2 HGNC ENSG00000013288 93 0 0 86 32 27.1186 EPHA5 0 genome.wustl.edu 37 4 66201823 66201823 + Missense_Mutation SNP T T G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 66201823 66201823 T G SNP EPHA5 ENST00000273854 human ensembl 74_37 -1 known missense c.2679 p.E893D 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,pirsf_Tyr_kinase_ephrin_rcpt,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,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 63 0 0 47 19 28.7879 MFSD7 0 genome.wustl.edu 37 4 676598 676598 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 676598 676598 C T SNP MFSD7 ENST00000404286 human ensembl 74_37 -1 known silent c.1236 p.Q412 0.699 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD7 HGNC ENSG00000169026 23 0 0 16 6 27.2727 AFAP1-AS1 0 genome.wustl.edu 37 4 7774803 7774803 + RNA SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 7774803 7774803 A G SNP AFAP1-AS1 ENST00000608442 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AFAP1-AS1 HGNC ENSG00000272620 15 0 0 14 5 26.3158 ACOX3 0 genome.wustl.edu 37 4 8401375 8401375 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 8401375 8401375 C T SNP ACOX3 ENST00000356406 human ensembl 74_37 -1 known missense c.781 p.A261T 1.000 superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_AcylCo_DH/oxidase_C,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase - no_errors ACOX3 HGNC ENSG00000087008 76 0 0 64 15 18.9873 CDS1 0 genome.wustl.edu 37 4 85525514 85525514 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 85525514 85525514 T C SNP CDS1 ENST00000295887 human ensembl 74_37 +1 known missense c.236 p.L79S 0.988 pirsf_PC_Trfase_euk pfam_PC_trans,pirsf_PC_Trfase_euk - no_errors CDS1 HGNC ENSG00000163624 96 0 0 53 20 27.3973 WDFY3 0 genome.wustl.edu 37 4 85598426 85598426 + Silent SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 85598426 85598426 T C SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known silent c.10383 p.S3461 0.001 pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 104 0 0 56 13 18.8406 GAK 0 genome.wustl.edu 37 4 875753 875753 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 875753 875753 C T SNP GAK ENST00000314167 human ensembl 74_37 -1 known missense c.1603 p.A535T 1.000 pfscan_Phosphatase_tensin-typ pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_Kinase-like_dom,superfamily_DnaJ_domain,superfamily_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_DnaJ_domain,pfscan_Prot_kinase_dom,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain - no_errors GAK HGNC ENSG00000178950 15 0 0 15 7 31.8182 HERC3 0 genome.wustl.edu 37 4 89571095 89571095 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 89571095 89571095 G A SNP HERC3 ENST00000264345 human ensembl 74_37 +1 known missense c.331 p.G111R 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC3 HGNC ENSG00000138641 122 0 0 89 26 22.6087 IDUA 0 genome.wustl.edu 37 4 995599 995599 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 995599 995599 G A SNP IDUA ENST00000453894 human ensembl 74_37 +1 known missense c.581 p.C194Y 1.000 pfam_Glyco_hydro_39,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_39,superfamily_Glycoside_hydrolase_SF,superfamily_Fibronectin_type3,prints_Glyco_hydro_39 - no_errors IDUA HGNC ENSG00000127415 18 0 0 20 3 13.0435 MARCH6 0 genome.wustl.edu 37 5 10391770 10391770 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 10391770 10391770 G A SNP MARCH6 ENST00000274140 human ensembl 74_37 +1 known silent c.693 p.E231 0.999 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH6 HGNC ENSG00000145495 52 0 0 45 13 22.4138 EPB41L4A 0 genome.wustl.edu 37 5 111540160 111540160 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 111540160 111540160 G A SNP EPB41L4A ENST00000261486 human ensembl 74_37 -1 known missense c.1288 p.R430C 1.000 NULL pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L4A HGNC ENSG00000129595 133 1 0.746269 90 35 28 SLC6A19 0 genome.wustl.edu 37 5 1216926 1216926 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 1216926 1216926 G A SNP SLC6A19 ENST00000304460 human ensembl 74_37 +1 known missense c.1039 p.G347R 0.047 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 SLC6A19 HGNC ENSG00000174358 166 0 0 131 56 29.9465 ALDH7A1 0 genome.wustl.edu 37 5 125903997 125903997 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 125903997 125903997 G A SNP ALDH7A1 ENST00000409134 human ensembl 74_37 -1 known silent c.825 p.S275 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH7A1 HGNC ENSG00000164904 154 0 0 105 40 27.5862 FBN2 0 genome.wustl.edu 37 5 127595417 127595417 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 127595417 127595417 G A SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known silent c.8469 p.P2823 0.039 pirsf_FBN pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 118 0 0 100 36 26.4706 FBN2 0 genome.wustl.edu 37 5 127714547 127714547 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 127714547 127714547 C A SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known missense c.1640 p.G547V 1.000 pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 103 0 0 76 31 28.972 RAPGEF6 0 genome.wustl.edu 37 5 130825260 130825260 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 130825260 130825260 T C SNP RAPGEF6 ENST00000509018 human ensembl 74_37 -1 known missense c.1819 p.T607A 1.000 pfam_PDZ,superfamily_Ras_GEF_dom,superfamily_PDZ,smart_PDZ pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF6 HGNC ENSG00000158987 16 0 0 18 8 30.7692 CDKL3 0 genome.wustl.edu 37 5 133541779 133541779 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 133541779 133541779 C T SNP CDKL3 ENST00000609654 human ensembl 74_37 -1 known missense c.1196 p.R399Q 1.000 smart_Ser/Thr-sp_prot-phosphatase pfam_PEstase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors CDKL3 HGNC ENSG00000006837 107 0 0 59 20 25.3165 SAR1B 0 genome.wustl.edu 37 5 133944077 133944077 + Silent SNP A A C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 133944077 133944077 A C SNP SAR1B ENST00000402673 human ensembl 74_37 -1 known silent c.465 p.G155 0.998 pfam_Small_GTPase_ARF/SAR,pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,pfam_MIRO-like,pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors SAR1B HGNC ENSG00000152700 15 0 0 3 2 40 SEC24A 0 genome.wustl.edu 37 5 133997147 133997147 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 133997147 133997147 G A SNP SEC24A ENST00000398844 human ensembl 74_37 +1 known missense c.436 p.A146T 0.492 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom - no_errors SEC24A HGNC ENSG00000113615 112 0 0 82 29 26.1261 SLC25A48 0 genome.wustl.edu 37 5 135188361 135188361 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 135188361 135188361 G A SNP SLC25A48 ENST00000420621 human ensembl 74_37 +1 known missense c.272 p.R91H 1.000 superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A48 HGNC ENSG00000145832 152 0 0 114 37 24.5033 BRD8 0 genome.wustl.edu 37 5 137507779 137507779 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 137507779 137507779 C T SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.161 p.R54H 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 142 0 0 99 26 20.8 PSD2 0 genome.wustl.edu 37 5 139217239 139217239 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 139217239 139217239 G A SNP PSD2 ENST00000274710 human ensembl 74_37 +1 known silent c.1695 p.S565 0.118 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD2 HGNC ENSG00000146005 126 0 0 70 27 27.8351 NRG2 0 genome.wustl.edu 37 5 139260469 139260469 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 139260469 139260469 G A SNP NRG2 ENST00000545385 human ensembl 74_37 -1 known silent c.963 p.T321 0.009 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_EG-like_dom,pfscan_Ig-like_dom - no_errors NRG2 HGNC ENSG00000158458 95 0 0 89 20 18.3486 ANKHD1 0 genome.wustl.edu 37 5 139905605 139905605 + Missense_Mutation SNP C C G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 139905605 139905605 C G SNP ANKHD1 ENST00000297183 human ensembl 74_37 +1 known missense c.4517 p.P1506R 1.000 NULL pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKHD1 HGNC ENSG00000131503 107 0 0 75 27 26.4706 HARS 0 genome.wustl.edu 37 5 140056939 140056939 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 140056939 140056939 G A SNP HARS ENST00000504156 human ensembl 74_37 -1 known missense c.796 p.R266C 1.000 pirsf_HisRS/HisZ,pfscan_aa-tRNA-synth_II,tigrfam_His-tRNA-ligase pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_WHEP-TRS,superfamily_Anticodon-bd,superfamily_S15_NS1_RNA-bd,pirsf_HisRS/HisZ,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_His-tRNA-ligase - no_errors HARS HGNC ENSG00000170445 158 0 0 110 38 25.6757 PCDHA1 0 genome.wustl.edu 37 5 140167397 140167397 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 140167397 140167397 G A SNP PCDHA1 ENST00000504120 human ensembl 74_37 +1 known missense c.1522 p.V508M 1.000 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 PCDHA1 HGNC ENSG00000204970 174 0 0 131 32 19.6319 PCDHA2 0 genome.wustl.edu 37 5 140176708 140176708 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 140176708 140176708 C T SNP PCDHA2 ENST00000526136 human ensembl 74_37 +1 known missense c.2159 p.A720V 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA2 HGNC ENSG00000204969 167 0 0 132 56 29.7872 PCDHA3 0 genome.wustl.edu 37 5 140182372 140182372 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 140182372 140182372 G A SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known silent c.1590 p.L530 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 241 0 0 249 76 23.3846 PCDHA7 0 genome.wustl.edu 37 5 140215088 140215088 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 140215088 140215088 G A SNP PCDHA7 ENST00000525929 human ensembl 74_37 +1 known missense c.1120 p.V374M 0.507 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 PCDHA7 HGNC ENSG00000204963 228 0 0 178 49 21.5859 PCDHA13 0 genome.wustl.edu 37 5 140263716 140263716 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 140263716 140263716 G A SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known silent c.1863 p.P621 0.897 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 PCDHA13 HGNC ENSG00000239389 182 0 0 131 50 27.6243 PCDHB3 0 genome.wustl.edu 37 5 140482221 140482221 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 140482221 140482221 T C SNP PCDHB3 ENST00000231130 human ensembl 74_37 +1 known missense c.1988 p.V663A 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB3 HGNC ENSG00000113205 225 0 0 179 43 19.3694 PCDHB5 0 genome.wustl.edu 37 5 140516339 140516339 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 140516339 140516339 C T SNP PCDHB5 ENST00000231134 human ensembl 74_37 +1 known silent c.1323 p.S441 0.160 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB5 HGNC ENSG00000113209 278 0 0 208 76 26.7606 PCDHB5 0 genome.wustl.edu 37 5 140516436 140516436 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 140516436 140516436 G A SNP PCDHB5 ENST00000231134 human ensembl 74_37 +1 known missense c.1420 p.A474T 0.997 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 PCDHB5 HGNC ENSG00000113209 291 1 0.342466 239 92 27.7946 PCDHB6 0 genome.wustl.edu 37 5 140530736 140530736 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 140530736 140530736 C T SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known missense c.898 p.R300W 0.428 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 PCDHB6 HGNC ENSG00000113211 123 0 0 56 28 33.3333 PCDHB6 0 genome.wustl.edu 37 5 140531711 140531711 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 140531711 140531711 G A SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known missense c.1873 p.A625T 0.000 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 PCDHB6 HGNC ENSG00000113211 128 0 0 97 37 27.6119 PCDHB12 0 genome.wustl.edu 37 5 140590139 140590139 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 140590139 140590139 G A SNP PCDHB12 ENST00000239450 human ensembl 74_37 +1 known missense c.1660 p.A554T 0.385 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC ENSG00000120328 147 0 0 118 31 20.8054 PCDHB13 0 genome.wustl.edu 37 5 140594674 140594674 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 140594674 140594674 A G SNP PCDHB13 ENST00000341948 human ensembl 74_37 +1 known missense c.979 p.T327A 0.003 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB13 HGNC ENSG00000187372 297 0 0 118 44 27.1605 PCDHB13 0 genome.wustl.edu 37 5 140594675 140594675 + Missense_Mutation SNP C C G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 140594675 140594675 C G SNP PCDHB13 ENST00000341948 human ensembl 74_37 +1 known missense c.980 p.T327S 0.087 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB13 HGNC ENSG00000187372 297 0 0 122 42 25.6098 PCDHB18 0 genome.wustl.edu 37 5 140615982 140615982 + RNA SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 140615982 140615982 C T SNP PCDHB18 ENST00000526308 human ensembl 74_37 +1 known rna NULL NULL 0.937 - - - no_errors PCDHB18 HGNC ENSG00000146001 186 0 0 119 63 34.6154 PCDHGA2 0 genome.wustl.edu 37 5 140720214 140720214 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 140720214 140720214 C T SNP PCDHGA2 ENST00000394576 human ensembl 74_37 +1 known missense c.1676 p.A559V 0.005 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 305 0 0 256 83 24.4838 PCDHGA6 0 genome.wustl.edu 37 5 140755320 140755320 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 140755320 140755320 A G SNP PCDHGA6 ENST00000517434 human ensembl 74_37 +1 known missense c.1670 p.D557G 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA6 HGNC ENSG00000253731 325 1 0.306748 231 71 23.5099 PCDHGB4 0 genome.wustl.edu 37 5 140768971 140768971 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 140768971 140768971 C T SNP PCDHGB4 ENST00000519479 human ensembl 74_37 +1 known missense c.1520 p.A507V 0.081 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 PCDHGB4 HGNC ENSG00000253953 142 0 0 96 31 24.4094 PCDHGA11 0 genome.wustl.edu 37 5 140802793 140802793 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 140802793 140802793 G A SNP PCDHGA11 ENST00000398587 human ensembl 74_37 +1 known missense c.1999 p.D667N 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA11 HGNC ENSG00000253873 117 0 0 117 7 5.64516 PCDHGC3 0 genome.wustl.edu 37 5 140856568 140856568 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 140856568 140856568 C T SNP PCDHGC3 ENST00000308177 human ensembl 74_37 +1 known silent c.885 p.F295 0.998 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 PCDHGC3 HGNC ENSG00000240184 159 1 0.625 112 33 22.7586 PCDHGC4 0 genome.wustl.edu 37 5 140866151 140866151 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 140866151 140866151 G T SNP PCDHGC4 ENST00000306593 human ensembl 74_37 +1 known missense c.1411 p.G471W 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC4 HGNC ENSG00000242419 203 0 0 130 44 25.2874 SPINK5 0 genome.wustl.edu 37 5 147494018 147494018 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 147494018 147494018 C A SNP SPINK5 ENST00000359874 human ensembl 74_37 +1 known missense c.1981 p.H661N 1.000 pfam_Kazal_dom,smart_Kazal_dom pfam_Kazal_dom,smart_Kazal_dom - no_errors SPINK5 HGNC ENSG00000133710 95 0 0 53 16 23.1884 NDST1 0 genome.wustl.edu 37 5 149900963 149900963 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 149900963 149900963 G A SNP NDST1 ENST00000261797 human ensembl 74_37 +1 known silent c.147 p.A49 0.000 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST1 HGNC ENSG00000070614 107 0 0 112 38 25.3333 ZNF300P1 0 genome.wustl.edu 37 5 150310818 150310818 + RNA SNP T T G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 150310818 150310818 T G SNP ZNF300P1 ENST00000520773 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors ZNF300P1 HGNC ENSG00000197083 38 0 0 26 5 16.129 MRPL22 0 genome.wustl.edu 37 5 154346297 154346297 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 154346297 154346297 G A SNP MRPL22 ENST00000523037 human ensembl 74_37 +1 known missense c.461 p.G154D 1.000 pfam_Ribosomal_L22,superfamily_Ribosomal_L22 pfam_Ribosomal_L22,superfamily_Ribosomal_L22 - no_errors MRPL22 HGNC ENSG00000082515 135 0 0 108 30 21.7391 FBXL7 0 genome.wustl.edu 37 5 15928451 15928451 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 15928451 15928451 A G SNP FBXL7 ENST00000504595 human ensembl 74_37 +1 known missense c.580 p.S194G 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_Leu-rich_rpt,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL7 HGNC ENSG00000183580 58 0 0 33 12 26.6667 LCP2 0 genome.wustl.edu 37 5 169693822 169693822 + Silent SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 169693822 169693822 G T SNP LCP2 ENST00000046794 human ensembl 74_37 -1 known silent c.762 p.P254 1.000 NULL pfam_SH2,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,smart_SH2,pfscan_SH2 - no_errors LCP2 HGNC ENSG00000043462 170 0 0 164 40 19.6078 RANBP17 0 genome.wustl.edu 37 5 170346619 170346619 + Splice_Site SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 170346619 170346619 T C SNP RANBP17 ENST00000523189 human ensembl 74_37 +1 known splice_site c.1274+2 e11+2 1.000 - - - no_errors RANBP17 HGNC ENSG00000204764 114 1 0.869565 84 16 16 CPEB4 0 genome.wustl.edu 37 5 173376544 173376544 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 173376544 173376544 C A SNP CPEB4 ENST00000265085 human ensembl 74_37 +1 known missense c.1490 p.P497H 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB4 HGNC ENSG00000113742 50 0 0 31 6 16.2162 FGFR4 0 genome.wustl.edu 37 5 176518804 176518804 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 176518804 176518804 T C SNP FGFR4 ENST00000292408 human ensembl 74_37 +1 known missense c.722 p.V241A 1.000 pirsf_FGF_rcpt_fam,smart_Ig_sub pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR4 HGNC ENSG00000160867 95 0 0 97 17 14.9123 FGFR4 0 genome.wustl.edu 37 5 176524385 176524385 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 176524385 176524385 C T SNP FGFR4 ENST00000292408 human ensembl 74_37 +1 known missense c.2246 p.A749V 0.997 pirsf_FGF_rcpt_fam,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR4 HGNC ENSG00000160867 40 0 0 30 3 9.09091 ADAMTS2 0 genome.wustl.edu 37 5 178541286 178541286 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 178541286 178541286 A G SNP ADAMTS2 ENST00000251582 human ensembl 74_37 -1 known missense c.3218 p.M1073T 1.000 pfscan_PLAC pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ENSG00000087116 53 0 0 42 5 10.6383 TBC1D9B 0 genome.wustl.edu 37 5 179290791 179290791 + Missense_Mutation SNP C C G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 179290791 179290791 C G SNP TBC1D9B ENST00000356834 human ensembl 74_37 -1 known missense c.3410 p.G1137A 0.993 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9B HGNC ENSG00000197226 155 0 0 134 46 25.5556 TRIM7 0 genome.wustl.edu 37 5 180630503 180630503 + Missense_Mutation SNP C C G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 180630503 180630503 C G SNP TRIM7 ENST00000334421 human ensembl 74_37 -1 known missense c.660 p.E220D 0.002 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Znf_B-box_chordata - no_errors TRIM7 HGNC ENSG00000146054 139 0 0 108 35 24.4755 CDH12 0 genome.wustl.edu 37 5 21783501 21783501 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 21783501 21783501 C T SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known silent c.1359 p.A453 0.040 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 105 0 0 63 27 30 CDH10 0 genome.wustl.edu 37 5 24487827 24487827 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 24487827 24487827 C T SNP CDH10 ENST00000264463 human ensembl 74_37 -1 known missense c.2312 p.R771Q 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH10 HGNC ENSG00000040731 213 0 0 129 47 26.7045 PDZD2 0 genome.wustl.edu 37 5 31799307 31799307 + RNA SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 31799307 31799307 C T SNP PDZD2 ENST00000502824 human ensembl 74_37 +1 known rna NULL NULL 0.944 - - - no_errors PDZD2 HGNC ENSG00000133401 16 0 0 16 8 33.3333 TARS 0 genome.wustl.edu 37 5 33461072 33461072 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 33461072 33461072 T C SNP TARS ENST00000265112 human ensembl 74_37 +1 known missense c.1316 p.V439A 1.000 pfam_aa-tRNA-synt_IIb_cons-dom,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARS HGNC ENSG00000113407 98 0 0 67 13 16.25 SPEF2 0 genome.wustl.edu 37 5 35659271 35659271 + Nonsense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 35659271 35659271 C T SNP SPEF2 ENST00000356031 human ensembl 74_37 +1 known nonsense c.1129 p.R377* 1.000 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 54 0 0 36 10 21.7391 SLC9A3 0 genome.wustl.edu 37 5 477515 477515 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 477515 477515 G A SNP SLC9A3 ENST00000264938 human ensembl 74_37 -1 known silent c.1692 p.T564 0.005 prints_Na/H_exchanger_3/5,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,superfamily_Reg_factor_effector_dom,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A3 HGNC ENSG00000066230 56 0 0 53 10 15.873 ITGA2 0 genome.wustl.edu 37 5 52379218 52379218 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 52379218 52379218 G A SNP ITGA2 ENST00000296585 human ensembl 74_37 +1 known missense c.3193 p.V1065I 0.995 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA2 HGNC ENSG00000164171 59 0 0 33 13 28.2609 SKIV2L2 0 genome.wustl.edu 37 5 54711853 54711853 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 54711853 54711853 A G SNP SKIV2L2 ENST00000230640 human ensembl 74_37 +1 known missense c.2864 p.E955G 1.000 pfam_DSH_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1 pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L2 HGNC ENSG00000039123 40 0 0 20 7 25.9259 PPWD1 0 genome.wustl.edu 37 5 64865507 64865507 + Nonsense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 64865507 64865507 G A SNP PPWD1 ENST00000261308 human ensembl 74_37 +1 known nonsense c.348 p.W116* 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Cyclophilin-like_PPIase_dom,pfam_WD40_repeat,superfamily_Cyclophilin-like_PPIase_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PPWD1 HGNC ENSG00000113593 43 0 0 32 10 23.8095 OCLN 0 genome.wustl.edu 37 5 68800096 68800096 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 68800096 68800096 C T SNP OCLN ENST00000355237 human ensembl 74_37 +1 known missense c.25 p.P9S 1.000 pirsf_Occludin pfam_Occludin_RNApol2_elong_fac_ELL,pfam_Marvel,pirsf_Occludin,prints_Occludin - no_errors OCLN HGNC ENSG00000197822 32 0 0 21 6 22.2222 BDP1 0 genome.wustl.edu 37 5 70785231 70785231 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 70785231 70785231 T C SNP BDP1 ENST00000358731 human ensembl 74_37 +1 known missense c.1214 p.V405A 0.290 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 37 0 0 36 10 21.7391 BDP1 0 genome.wustl.edu 37 5 70811960 70811960 + Silent SNP C C G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 70811960 70811960 C G SNP BDP1 ENST00000358731 human ensembl 74_37 +1 known silent c.4722 p.G1574 0.986 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 34 0 0 22 12 35.2941 MCCC2 0 genome.wustl.edu 37 5 70944923 70944923 + Splice_Site SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 70944923 70944923 G T SNP MCCC2 ENST00000340941 human ensembl 74_37 +1 known splice_site c.1217-1 e14-1 1.000 - - - no_errors MCCC2 HGNC ENSG00000131844 81 0 0 78 19 19.5876 ENC1 0 genome.wustl.edu 37 5 73931829 73931829 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 73931829 73931829 C T SNP ENC1 ENST00000302351 human ensembl 74_37 -1 known missense c.482 p.C161Y 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors ENC1 HGNC ENSG00000171617 152 0 0 111 26 18.9781 THBS4 0 genome.wustl.edu 37 5 79375873 79375873 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 79375873 79375873 A G SNP THBS4 ENST00000350881 human ensembl 74_37 +1 known missense c.2657 p.Q886R 1.000 pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl_sf pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors THBS4 HGNC ENSG00000113296 41 0 0 28 11 28.2051 VCAN 0 genome.wustl.edu 37 5 82837118 82837118 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 82837118 82837118 T C SNP VCAN ENST00000265077 human ensembl 74_37 +1 known missense c.8296 p.S2766P 1.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 101 0 0 49 20 28.9855 HAPLN1 0 genome.wustl.edu 37 5 82948392 82948392 + Missense_Mutation SNP T T G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 82948392 82948392 T G SNP HAPLN1 ENST00000274341 human ensembl 74_37 -1 known missense c.352 p.S118R 0.997 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link - no_errors HAPLN1 HGNC ENSG00000145681 179 0 0 80 27 25.2336 ENSG00000250320 0 genome.wustl.edu 37 5 83680285 83680285 + RNA SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 83680285 83680285 G A SNP ENSG00000250320 ENST00000514696 human ensembl 74_37 +1 known rna NULL NULL 0.256 - - - no_errors CTD-2269F5.1 Clone_based_vega_gene ENSG00000250320 24 0 0 14 10 41.6667 ZDHHC11 0 genome.wustl.edu 37 5 843740 843740 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 843740 843740 C T SNP ZDHHC11 ENST00000283441 human ensembl 74_37 -1 known silent c.603 p.V201 0.048 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC11 HGNC ENSG00000188818 85 0 0 74 13 14.9425 RGMB 0 genome.wustl.edu 37 5 98128867 98128867 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 98128867 98128867 G A SNP RGMB ENST00000308234 human ensembl 74_37 +1 known missense c.847 p.A283T 1.000 pfam_RGM_C pfam_RGM_C,pfam_RGM_N - no_errors RGMB HGNC ENSG00000174136 35 0 0 47 5 9.61538 GCNT2 0 genome.wustl.edu 37 6 10586566 10586566 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 10586566 10586566 G T SNP GCNT2 ENST00000265012 human ensembl 74_37 +1 known missense c.344 p.R115M 0.997 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT2 HGNC ENSG00000111846 94 0 0 52 17 24.6377 ZUFSP 0 genome.wustl.edu 37 6 116988046 116988046 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 116988046 116988046 C T SNP ZUFSP ENST00000368576 human ensembl 74_37 -1 known missense c.310 p.A104T 0.000 NULL pfam_Peptidase_C78_UfSP1/2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZUFSP HGNC ENSG00000153975 69 0 0 45 14 23.7288 HIVEP1 0 genome.wustl.edu 37 6 12121648 12121648 + Missense_Mutation SNP T T A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 12121648 12121648 T A SNP HIVEP1 ENST00000379388 human ensembl 74_37 +1 known missense c.1620 p.N540K 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 58 0 0 49 15 23.4375 TBC1D32 0 genome.wustl.edu 37 6 121642917 121642917 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 121642917 121642917 C T SNP TBC1D32 ENST00000464622 human ensembl 74_37 -1 known missense c.179 p.R60K 0.999 NULL NULL - no_errors TBC1D32 HGNC ENSG00000146350 110 0 0 71 21 22.8261 STL 0 genome.wustl.edu 37 6 125231453 125231453 + RNA SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 125231453 125231453 C A SNP STL ENST00000439075 human ensembl 74_37 -1 known rna NULL NULL 0.015 - - - no_errors RP11-510H23.1 Clone_based_vega_gene ENSG00000236548 26 0 0 17 11 39.2857 PRELID1P1 0 genome.wustl.edu 37 6 126965357 126965357 + RNA SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 126965357 126965357 C T SNP PRELID1P1 ENST00000567272 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PRELID1P1 HGNC ENSG00000217325 26 0 0 26 6 18.75 KIAA0408 0 genome.wustl.edu 37 6 127767709 127767709 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 127767709 127767709 C T SNP KIAA0408 ENST00000483725 human ensembl 74_37 -1 novel silent c.1755 p.Q585 0.699 NULL NULL - no_errors KIAA0408 HGNC ENSG00000189367 153 0 0 81 26 24.2991 MOXD1 0 genome.wustl.edu 37 6 132695778 132695778 + Missense_Mutation SNP T T G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 132695778 132695778 T G SNP MOXD1 ENST00000367963 human ensembl 74_37 -1 known missense c.403 p.S135R 0.998 pfam_DOMON_domain,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase - no_errors MOXD1 HGNC ENSG00000079931 85 0 0 41 25 37.8788 FOXF2 0 genome.wustl.edu 37 6 1390484 1390484 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 1390484 1390484 C T SNP FOXF2 ENST00000259806 human ensembl 74_37 +1 known missense c.302 p.P101L 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXF2 HGNC ENSG00000137273 37 0 0 22 14 38.8889 NMBR 0 genome.wustl.edu 37 6 142399736 142399736 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 142399736 142399736 C T SNP NMBR ENST00000258042 human ensembl 74_37 -1 known missense c.727 p.A243T 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_NeuroB_rcpt,prints_Bombsn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NMBR HGNC ENSG00000135577 60 0 0 44 12 21.4286 HIVEP2 0 genome.wustl.edu 37 6 143091558 143091558 + Nonsense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 143091558 143091558 G A SNP HIVEP2 ENST00000012134 human ensembl 74_37 -1 known nonsense c.4318 p.R1440* 1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 101 0 0 67 30 30.9278 PHACTR2 0 genome.wustl.edu 37 6 144128231 144128231 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 144128231 144128231 C A SNP PHACTR2 ENST00000440869 human ensembl 74_37 +1 known missense c.1883 p.T628K 1.000 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR2 HGNC ENSG00000112419 39 0 0 28 12 30 PHACTR2 0 genome.wustl.edu 37 6 144144816 144144816 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 144144816 144144816 A G SNP PHACTR2 ENST00000440869 human ensembl 74_37 +1 known missense c.1928 p.H643R 1.000 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR2 HGNC ENSG00000112419 75 0 0 39 16 29.0909 LATS1 0 genome.wustl.edu 37 6 150001447 150001447 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 150001447 150001447 G A SNP LATS1 ENST00000253339 human ensembl 74_37 -1 known silent c.2157 p.V719 0.996 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/Ts_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors LATS1 HGNC ENSG00000131023 121 0 0 102 13 11.3043 NUP43 0 genome.wustl.edu 37 6 150067127 150067127 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 150067127 150067127 G A SNP NUP43 ENST00000340413 human ensembl 74_37 -1 known silent c.192 p.D64 0.976 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NUP43 HGNC ENSG00000120253 122 0 0 96 31 24.4094 SYNE1 0 genome.wustl.edu 37 6 152652598 152652598 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 152652598 152652598 C T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.13222 p.A4408T 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 76 0 0 61 14 18.6667 OPRM1 0 genome.wustl.edu 37 6 154360655 154360655 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 154360655 154360655 C T SNP OPRM1 ENST00000434900 human ensembl 74_37 +1 known silent c.255 p.S85 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mu_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt - no_errors OPRM1 HGNC ENSG00000112038 19 0 0 12 5 29.4118 JARID2 0 genome.wustl.edu 37 6 15513182 15513182 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 15513182 15513182 A G SNP JARID2 ENST00000341776 human ensembl 74_37 +1 known missense c.3172 p.M1058V 1.000 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 276 0 0 171 61 26.2931 SLC22A1 0 genome.wustl.edu 37 6 160543354 160543354 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 160543354 160543354 G A SNP SLC22A1 ENST00000366963 human ensembl 74_37 +1 known silent c.387 p.T129 0.647 pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A1 HGNC ENSG00000175003 80 0 0 55 19 25.6757 MAP3K4 0 genome.wustl.edu 37 6 161470396 161470396 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 161470396 161470396 A G SNP MAP3K4 ENST00000392142 human ensembl 74_37 +1 known missense c.1092 p.I364M 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K4 HGNC ENSG00000085511 77 0 0 56 19 25.3333 ATXN1 0 genome.wustl.edu 37 6 16327903 16327903 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 16327903 16327903 C A SNP ATXN1 ENST00000244769 human ensembl 74_37 -1 known missense c.639 p.Q213H 0.019 NULL pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1 HGNC ENSG00000124788 24 0 0 20 4 16.6667 ATXN1 0 genome.wustl.edu 37 6 16327915 16327915 + Missense_Mutation SNP A A C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 16327915 16327915 A C SNP ATXN1 ENST00000244769 human ensembl 74_37 -1 known missense c.627 p.H209Q 0.017 NULL pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1 HGNC ENSG00000124788 27 0 0 24 4 14.2857 QKI 0 genome.wustl.edu 37 6 163984517 163984517 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 163984517 163984517 C T SNP QKI ENST00000361752 human ensembl 74_37 +1 known missense c.700 p.P234S 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom - no_errors QKI HGNC ENSG00000112531 62 0 0 40 16 28.5714 FRMD1 0 genome.wustl.edu 37 6 168467457 168467457 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 168467457 168467457 C T SNP FRMD1 ENST00000283309 human ensembl 74_37 -1 known missense c.439 p.V147M 1.000 pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD1 HGNC ENSG00000153303 73 0 0 55 18 24.6575 WDR27 0 genome.wustl.edu 37 6 170036601 170036601 + Splice_Site SNP C C G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 170036601 170036601 C G SNP WDR27 ENST00000448612 human ensembl 74_37 -1 known splice_site c.1870-1 e18-1 0.999 - - - no_errors WDR27 HGNC ENSG00000184465 46 0 0 30 8 21.0526 FAM120B 0 genome.wustl.edu 37 6 170627688 170627688 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 170627688 170627688 T C SNP FAM120B ENST00000537664 human ensembl 74_37 +1 known missense c.1279 p.C427R 0.005 NULL NULL - no_errors FAM120B HGNC ENSG00000112584 456 0 0 301 93 23.6041 GPLD1 0 genome.wustl.edu 37 6 24436912 24436912 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 24436912 24436912 C T SNP GPLD1 ENST00000230036 human ensembl 74_37 -1 known silent c.2250 p.L750 0.807 smart_Int_alpha_beta-p,prints_Gprt_PLipase_D pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Gprt_PLipase_D - no_errors GPLD1 HGNC ENSG00000112293 99 0 0 58 21 26.5823 HIST1H2AA 0 genome.wustl.edu 37 6 25726456 25726456 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 25726456 25726456 G A SNP HIST1H2AA ENST00000297012 human ensembl 74_37 -1 known silent c.300 p.G100 0.151 superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AA HGNC ENSG00000164508 233 0 0 159 57 26.3889 BTN2A2 0 genome.wustl.edu 37 6 26385502 26385502 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 26385502 26385502 C T SNP BTN2A2 ENST00000356709 human ensembl 74_37 +1 known silent c.354 p.N118 0.985 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTN2A2 HGNC ENSG00000124508 81 0 0 55 27 32.9268 BTN2A1 0 genome.wustl.edu 37 6 26463679 26463679 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 26463679 26463679 C A SNP BTN2A1 ENST00000312541 human ensembl 74_37 +1 known missense c.638 p.S213Y 0.016 pfam_CD80_C2-set pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTN2A1 HGNC ENSG00000112763 202 0 0 150 58 27.8846 HLA-V 0 genome.wustl.edu 37 6 29760290 29760290 + RNA SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 29760290 29760290 C T SNP HLA-V ENST00000446817 human ensembl 74_37 +1 known rna NULL NULL 0.995 - - - no_errors HLA-V HGNC ENSG00000181126 11 0 0 9 6 40 TRIM39 0 genome.wustl.edu 37 6 30297398 30297398 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 30297398 30297398 C T SNP TRIM39 ENST00000376656 human ensembl 74_37 +1 known missense c.304 p.R102W 0.063 smart_Znf_B-box,pfscan_Znf_B-box pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM39 HGNC ENSG00000204599 86 0 0 47 23 32.8571 HLA-E 0 genome.wustl.edu 37 6 30459056 30459056 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 30459056 30459056 C T SNP HLA-E ENST00000376630 human ensembl 74_37 +1 known silent c.753 p.L251 0.985 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-E HGNC ENSG00000204592 192 0 0 155 49 24.0196 DDR1 0 genome.wustl.edu 37 6 30858775 30858775 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 30858775 30858775 A G SNP DDR1 ENST00000376575 human ensembl 74_37 +1 known missense c.443 p.E148G 0.973 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR1 HGNC ENSG00000204580 91 0 0 69 23 25 APOM 0 genome.wustl.edu 37 6 31625431 31625431 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 31625431 31625431 G A SNP APOM ENST00000375916 human ensembl 74_37 +1 known missense c.472 p.V158M 1.000 pfam_ApoM,superfamily_Calycin-like pfam_ApoM,superfamily_Calycin-like - no_errors APOM HGNC ENSG00000204444 249 0 0 154 56 26.6667 EHMT2 0 genome.wustl.edu 37 6 31848498 31848498 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 31848498 31848498 C T SNP EHMT2 ENST00000395728 human ensembl 74_37 -1 known missense c.3575 p.R1192H 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT2 HGNC ENSG00000204371 92 0 0 76 23 23.2323 SKIV2L 0 genome.wustl.edu 37 6 31933701 31933701 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 31933701 31933701 G T SNP SKIV2L ENST00000375394 human ensembl 74_37 +1 known missense c.2113 p.G705W 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_C pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L HGNC ENSG00000204351 56 0 0 27 14 34.1463 TNXB 0 genome.wustl.edu 37 6 32024393 32024393 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 32024393 32024393 C T SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.8113 p.V2705M 0.269 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_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 57 0 0 56 18 24.3243 TNXB 0 genome.wustl.edu 37 6 32035489 32035489 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 32035489 32035489 C T SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.6493 p.G2165S 0.903 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_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 91 0 0 87 7 7.44681 TAP2 0 genome.wustl.edu 37 6 32797230 32797230 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 32797230 32797230 C T SNP TAP2 ENST00000374897 human ensembl 74_37 -1 known missense c.1879 p.V627I 0.899 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Ag_transporter2 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_ABC_B3,prints_ABC_B2,tigrfam_Ag_transporter2 - no_errors TAP2 HGNC ENSG00000204267 25 0 0 28 8 22.2222 RGL2 0 genome.wustl.edu 37 6 33264534 33264534 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 33264534 33264534 C T SNP RGL2 ENST00000497454 human ensembl 74_37 -1 known missense c.260 p.R87H 0.982 superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL2 HGNC ENSG00000237441 84 0 0 57 14 19.7183 TAPBP 0 genome.wustl.edu 37 6 33281536 33281536 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 33281536 33281536 C T SNP TAPBP ENST00000426633 human ensembl 74_37 -1 known missense c.143 p.R48H 1.000 NULL pfam_Ig_C1-set,pfscan_Ig-like_dom,prints_Tapasin - no_errors TAPBP HGNC ENSG00000231925 106 0 0 58 33 36.2637 ANKS1A 0 genome.wustl.edu 37 6 34953019 34953019 + Silent SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 34953019 34953019 T C SNP ANKS1A ENST00000360359 human ensembl 74_37 +1 known silent c.1173 p.A391 0.214 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1A HGNC ENSG00000064999 116 0 0 77 28 26.6667 PI16 0 genome.wustl.edu 37 6 36927008 36927008 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 36927008 36927008 G A SNP PI16 ENST00000373674 human ensembl 74_37 +1 known missense c.259 p.E87K 0.997 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors PI16 HGNC ENSG00000164530 25 0 0 13 6 31.5789 DNAH8 0 genome.wustl.edu 37 6 38843448 38843448 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 38843448 38843448 G A SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.7051 p.V2351M 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 86 0 0 57 21 26.9231 GPR116 0 genome.wustl.edu 37 6 46874435 46874435 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 46874435 46874435 G A SNP GPR116 ENST00000265417 human ensembl 74_37 -1 known missense c.65 p.A22V 0.033 NULL pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like - no_errors GPR116 HGNC ENSG00000069122 90 0 0 73 22 23.1579 GPR110 0 genome.wustl.edu 37 6 46967871 46967871 + RNA SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 46967871 46967871 G A SNP GPR110 ENST00000449332 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GPR110 HGNC ENSG00000153292 11 0 0 12 8 40 TNFRSF21 0 genome.wustl.edu 37 6 47221045 47221045 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 47221045 47221045 G A SNP TNFRSF21 ENST00000296861 human ensembl 74_37 -1 known missense c.1456 p.R486W 1.000 pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_21 - no_errors TNFRSF21 HGNC ENSG00000146072 34 0 0 35 9 20.4545 TINAG 0 genome.wustl.edu 37 6 54208055 54208055 + Missense_Mutation SNP A A C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 54208055 54208055 A C SNP TINAG ENST00000259782 human ensembl 74_37 +1 known missense c.656 p.E219A 0.975 smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom - no_errors TINAG HGNC ENSG00000137251 56 0 0 27 13 32.5 COL12A1 0 genome.wustl.edu 37 6 75798830 75798830 + Missense_Mutation SNP C C G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 75798830 75798830 C G SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.9002 p.G3001A 1.000 NULL pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 59 0 0 35 8 18.6047 BMP6 0 genome.wustl.edu 37 6 7727443 7727443 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 7727443 7727443 G A SNP BMP6 ENST00000283147 human ensembl 74_37 +1 known silent c.255 p.S85 1.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP6 HGNC ENSG00000153162 17 0 0 14 3 17.6471 TBX18 0 genome.wustl.edu 37 6 85472390 85472390 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 85472390 85472390 C T SNP TBX18 ENST00000369663 human ensembl 74_37 -1 known silent c.369 p.A123 0.002 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX18 HGNC ENSG00000112837 75 0 0 51 14 21.5385 ZNF292 0 genome.wustl.edu 37 6 87970632 87970632 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 87970632 87970632 C T SNP ZNF292 ENST00000369577 human ensembl 74_37 +1 known missense c.7285 p.R2429W 0.985 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 19 0 0 11 3 21.4286 CNR1 0 genome.wustl.edu 37 6 88854674 88854674 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 88854674 88854674 C A SNP CNR1 ENST00000369499 human ensembl 74_37 -1 known missense c.320 p.C107F 1.000 pirsf_Canbinoid_rcpt_1,prints_Cnbnoid_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_Canbinoid_rcpt_1,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn - no_errors CNR1 HGNC ENSG00000118432 75 0 0 65 20 23.5294 GABRR2 0 genome.wustl.edu 37 6 90024932 90024932 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 90024932 90024932 C T SNP GABRR2 ENST00000602399 human ensembl 74_37 -1 known missense c.28 p.A10T 0.000 NULL pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAa_rho2_rcpt,prints_GABAAa_rho_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRR2 HGNC ENSG00000111886 318 0 0 271 30 9.96678 ANKRD6 0 genome.wustl.edu 37 6 90312801 90312801 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 90312801 90312801 C T SNP ANKRD6 ENST00000339746 human ensembl 74_37 +1 known silent c.273 p.I91 0.076 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,prints_Ankyrin_rpt - no_errors ANKRD6 HGNC ENSG00000135299 16 0 0 18 5 21.7391 MDN1 0 genome.wustl.edu 37 6 90396626 90396626 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 90396626 90396626 T C SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.11567 p.Q3856R 0.963 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 166 0 0 92 37 28.6822 MDN1 0 genome.wustl.edu 37 6 90449993 90449993 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 90449993 90449993 A G SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.4553 p.L1518P 0.997 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 100 0 0 47 15 24.1935 ZAN 0 genome.wustl.edu 37 7 100377177 100377177 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 100377177 100377177 G A SNP ZAN ENST00000546292 human ensembl 74_37 +1 known missense c.6424 p.A2142T 0.002 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 25 0 0 15 7 31.8182 MUC17 0 genome.wustl.edu 37 7 100684572 100684572 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 100684572 100684572 C T SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.9875 p.T3292M 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 780 0 0 478 150 23.8854 TRIM56 0 genome.wustl.edu 37 7 100732838 100732838 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 100732838 100732838 C T SNP TRIM56 ENST00000306085 human ensembl 74_37 +1 known missense c.2245 p.R749W 0.989 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_CheY-like_superfamily,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM56 HGNC ENSG00000169871 57 0 0 42 13 23.6364 RELN 0 genome.wustl.edu 37 7 103243938 103243938 + Splice_Site SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 103243938 103243938 C A SNP RELN ENST00000424685 human ensembl 74_37 -1 known splice_site c.3147-1 e24-1 1.000 - - - no_errors RELN HGNC ENSG00000189056 83 0 0 59 14 19.1781 LAMB1 0 genome.wustl.edu 37 7 107566694 107566694 + Silent SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 107566694 107566694 G T SNP LAMB1 ENST00000222399 human ensembl 74_37 -1 known silent c.4998 p.S1666 0.166 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,superfamily_P-loop_NTPase,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC ENSG00000091136 95 0 0 62 17 21.519 LRRN3 0 genome.wustl.edu 37 7 110763653 110763653 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 110763653 110763653 A G SNP LRRN3 ENST00000308478 human ensembl 74_37 +1 known missense c.825 p.I275M 1.000 smart_Leu-rich_rpt_typical-subtyp 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 73 0 0 46 14 23.3333 DOCK4 0 genome.wustl.edu 37 7 111368395 111368395 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 111368395 111368395 C A SNP DOCK4 ENST00000428084 human ensembl 74_37 -1 known missense c.5863 p.G1955W 0.997 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 40 0 0 34 4 10.5263 ZNF277 0 genome.wustl.edu 37 7 111958267 111958267 + Nonsense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 111958267 111958267 C T SNP ZNF277 ENST00000361822 human ensembl 74_37 +1 known nonsense c.496 p.R166* 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF277 HGNC ENSG00000198839 49 0 0 46 8 14.8148 THSD7A 0 genome.wustl.edu 37 7 11676525 11676525 + Nonsense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 11676525 11676525 C T SNP THSD7A ENST00000423059 human ensembl 74_37 -1 known nonsense c.254 p.W85* 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 133 0 0 91 25 21.5517 CPED1 0 genome.wustl.edu 37 7 120884391 120884391 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 120884391 120884391 A G SNP CPED1 ENST00000310396 human ensembl 74_37 +1 known missense c.2309 p.K770R 1.000 NULL NULL - no_errors CPED1 HGNC ENSG00000106034 75 0 0 50 5 9.09091 WNT16 0 genome.wustl.edu 37 7 120979305 120979305 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 120979305 120979305 G T SNP WNT16 ENST00000222462 human ensembl 74_37 +1 known missense c.1004 p.R335M 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt16,prints_Wnt - no_errors WNT16 HGNC ENSG00000002745 81 0 0 81 23 22.1154 PTPRZ1 0 genome.wustl.edu 37 7 121652619 121652619 + Silent SNP A A C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 121652619 121652619 A C SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known silent c.3519 p.S1173 0.994 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 196 0 0 159 53 25 IQUB 0 genome.wustl.edu 37 7 123101557 123101557 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 123101557 123101557 G A SNP IQUB ENST00000324698 human ensembl 74_37 -1 known missense c.1861 p.R621C 0.002 NULL pfam_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors IQUB HGNC ENSG00000164675 68 0 0 41 8 16.3265 FLNC 0 genome.wustl.edu 37 7 128488744 128488744 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 128488744 128488744 C T SNP FLNC ENST00000325888 human ensembl 74_37 +1 known silent c.4710 p.G1570 0.014 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 FLNC HGNC ENSG00000128591 215 0 0 153 66 30.137 PLXNA4 0 genome.wustl.edu 37 7 132193357 132193357 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 132193357 132193357 C T SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known silent c.96 p.P32 0.000 pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 34 0 0 28 12 30 SLC13A4 0 genome.wustl.edu 37 7 135376308 135376308 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 135376308 135376308 T C SNP SLC13A4 ENST00000354042 human ensembl 74_37 -1 known missense c.1306 p.K436E 0.997 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom,pfam_DctM - no_errors SLC13A4 HGNC ENSG00000164707 55 0 0 43 11 20.3704 CHRM2 0 genome.wustl.edu 37 7 136700051 136700051 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 136700051 136700051 G A SNP CHRM2 ENST00000320658 human ensembl 74_37 +1 known missense c.439 p.A147T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM2 HGNC ENSG00000181072 139 0 0 62 31 33.3333 TRIM24 0 genome.wustl.edu 37 7 138145955 138145955 + RNA SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 138145955 138145955 G A SNP TRIM24 ENST00000497516 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TRIM24 HGNC ENSG00000122779 43 0 0 27 13 32.5 PARP12 0 genome.wustl.edu 37 7 139746769 139746769 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 139746769 139746769 A G SNP PARP12 ENST00000263549 human ensembl 74_37 -1 known missense c.901 p.W301R 1.000 pfscan_WWE-dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Znf_CCCH,smart_Znf_CCCH,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP12 HGNC ENSG00000059378 54 0 0 51 21 29.1667 DENND2A 0 genome.wustl.edu 37 7 140267037 140267037 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 140267037 140267037 A G SNP DENND2A ENST00000275884 human ensembl 74_37 -1 known missense c.1628 p.L543P 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2A HGNC ENSG00000146966 34 0 0 21 12 36.3636 BRAF 0 genome.wustl.edu 37 7 140434475 140434475 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 140434475 140434475 C A SNP BRAF ENST00000288602 human ensembl 74_37 -1 known missense c.2223 p.E741D 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors BRAF HGNC ENSG00000157764 230 0 0 121 58 32.4022 MGAM 0 genome.wustl.edu 37 7 141708379 141708379 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 141708379 141708379 C T SNP MGAM ENST00000549489 human ensembl 74_37 +1 known silent c.201 p.T67 0.000 NULL pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 43 0 0 29 19 39.5833 EPHB6 0 genome.wustl.edu 37 7 142561892 142561892 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 142561892 142561892 C T SNP EPHB6 ENST00000392957 human ensembl 74_37 +1 known missense c.334 p.R112W 0.999 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB6 HGNC ENSG00000106123 217 0 0 157 46 22.6601 EPHB6 0 genome.wustl.edu 37 7 142562206 142562206 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 142562206 142562206 G A SNP EPHB6 ENST00000392957 human ensembl 74_37 +1 known silent c.648 p.T216 0.001 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB6 HGNC ENSG00000106123 221 1 0.45045 196 57 22.5296 KEL 0 genome.wustl.edu 37 7 142651349 142651349 + Silent SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 142651349 142651349 C A SNP KEL ENST00000355265 human ensembl 74_37 -1 known silent c.846 p.L282 0.053 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors KEL HGNC ENSG00000197993 71 0 0 61 13 17.5676 GSTK1 0 genome.wustl.edu 37 7 142962174 142962174 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 142962174 142962174 G A SNP GSTK1 ENST00000479303 human ensembl 74_37 +1 known missense c.373 p.V125I 0.015 pfam_DSBA-like_thioredoxin_dom,superfamily_Thioredoxin-like_fold pfam_DSBA-like_thioredoxin_dom,superfamily_Thioredoxin-like_fold - no_errors GSTK1 HGNC ENSG00000197448 50 0 0 64 7 9.85915 TAS2R41 0 genome.wustl.edu 37 7 143175662 143175662 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 143175662 143175662 C A SNP TAS2R41 ENST00000408916 human ensembl 74_37 +1 known missense c.697 p.L233M 0.990 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R41 HGNC ENSG00000221855 81 0 0 74 20 21.2766 CNTNAP2 0 genome.wustl.edu 37 7 147092722 147092722 + Missense_Mutation SNP A A T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 147092722 147092722 A T SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known missense c.1520 p.N507I 0.972 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_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,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 159 0 0 114 42 26.9231 SLC4A2 0 genome.wustl.edu 37 7 150765012 150765012 + Missense_Mutation SNP T T A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 150765012 150765012 T A SNP SLC4A2 ENST00000413384 human ensembl 74_37 +1 known missense c.1018 p.W340R 1.000 superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk - no_errors SLC4A2 HGNC ENSG00000164889 77 0 0 34 12 26.087 WDR86 0 genome.wustl.edu 37 7 151093229 151093229 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 151093229 151093229 C T SNP WDR86 ENST00000469830 human ensembl 74_37 -1 putative missense c.359 p.R120Q 0.996 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR86 HGNC ENSG00000187260 84 0 0 58 27 31.7647 GALNT11 0 genome.wustl.edu 37 7 151805283 151805283 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 151805283 151805283 C T SNP GALNT11 ENST00000320311 human ensembl 74_37 +1 known silent c.873 p.R291 0.051 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT11 HGNC ENSG00000178234 112 0 0 84 35 29.4118 DPP6 0 genome.wustl.edu 37 7 154667692 154667692 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 154667692 154667692 G A SNP DPP6 ENST00000377770 human ensembl 74_37 +1 known missense c.1960 p.G654S 0.581 pfam_Peptidase_S9 pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC ENSG00000130226 29 0 0 20 8 28.5714 ENSG00000224903 0 genome.wustl.edu 37 7 156450184 156450184 + RNA SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 156450184 156450184 T C SNP ENSG00000224903 ENST00000455709 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC005534.8 Clone_based_vega_gene ENSG00000224903 98 0 0 54 21 28 MNX1 0 genome.wustl.edu 37 7 156802962 156802962 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 156802962 156802962 A G SNP MNX1 ENST00000252971 human ensembl 74_37 -1 known missense c.83 p.L28P 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors MNX1 HGNC ENSG00000130675 8 0 0 9 3 25 NUPL2 0 genome.wustl.edu 37 7 23235487 23235487 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 23235487 23235487 A G SNP NUPL2 ENST00000258742 human ensembl 74_37 +1 known missense c.475 p.R159G 1.000 NULL smart_Znf_CCCH - no_errors NUPL2 HGNC ENSG00000136243 49 0 0 28 5 15.1515 HOXA9 0 genome.wustl.edu 37 7 27204803 27204803 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 27204803 27204803 C T SNP HOXA9 ENST00000343483 human ensembl 74_37 -1 known missense c.274 p.V92M 1.000 pfam_Hox9_activation_N,pirsf_Homeobox_Hox9 pfam_Hox9_activation_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXA9 HGNC ENSG00000078399 22 0 0 13 11 45.8333 CARD11 0 genome.wustl.edu 37 7 2949685 2949685 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 2949685 2949685 T C SNP CARD11 ENST00000396946 human ensembl 74_37 -1 known missense c.3259 p.R1087G 1.000 superfamily_P-loop_NTPase pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 121 0 0 52 71 57.7236 DPY19L2P1 0 genome.wustl.edu 37 7 35131521 35131521 + RNA SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 35131521 35131521 G A SNP DPY19L2P1 ENST00000436258 human ensembl 74_37 -1 known rna NULL NULL 0.979 - - - no_errors DPY19L2P1 HGNC ENSG00000189212 61 0 0 70 6 7.89474 DPY19L2P1 0 genome.wustl.edu 37 7 35131548 35131548 + RNA SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 35131548 35131548 G A SNP DPY19L2P1 ENST00000436258 human ensembl 74_37 -1 known rna NULL NULL 0.985 - - - no_errors DPY19L2P1 HGNC ENSG00000189212 51 0 0 66 9 12 EPDR1 0 genome.wustl.edu 37 7 37960482 37960482 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 37960482 37960482 G A SNP EPDR1 ENST00000559325 human ensembl 74_37 +1 known missense c.301 p.G101R 0.001 NULL pfam_Ependymin,smart_Ependymin,prints_Ependymin - no_errors EPDR1 HGNC ENSG00000086289 43 0 0 25 11 30.5556 C7orf10 0 genome.wustl.edu 37 7 40900112 40900112 + RNA SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 40900112 40900112 C A SNP C7orf10 ENST00000464028 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors C7orf10 HGNC ENSG00000175600 41 0 0 30 14 31.8182 ZMIZ2 0 genome.wustl.edu 37 7 44804020 44804020 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 44804020 44804020 C T SNP ZMIZ2 ENST00000309315 human ensembl 74_37 +1 known silent c.1863 p.C621 1.000 pfam_Znf_MIZ,pfscan_Znf_MIZ pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ2 HGNC ENSG00000122515 63 0 0 47 15 24.1935 MYO1G 0 genome.wustl.edu 37 7 45006354 45006354 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 45006354 45006354 G A SNP MYO1G ENST00000258787 human ensembl 74_37 -1 known silent c.1866 p.V622 0.613 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO1G HGNC ENSG00000136286 236 0 0 185 55 22.9167 POM121L12 0 genome.wustl.edu 37 7 53103741 53103741 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 53103741 53103741 G T SNP POM121L12 ENST00000408890 human ensembl 74_37 +1 known missense c.377 p.R126L 0.007 NULL NULL - no_errors POM121L12 HGNC ENSG00000221900 74 0 0 61 22 26.506 SEPT14 0 genome.wustl.edu 37 7 55914312 55914312 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 55914312 55914312 G A SNP SEPT14 ENST00000388975 human ensembl 74_37 -1 known missense c.73 p.R25C 0.039 NULL pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT14 HGNC ENSG00000154997 60 0 0 46 11 19.2982 ENSG00000236299 0 genome.wustl.edu 37 7 63353552 63353552 + RNA SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 63353552 63353552 C T SNP ENSG00000236299 ENST00000433918 human ensembl 74_37 -1 known rna NULL NULL 0.126 - - - no_errors RP11-340I6.7 Clone_based_vega_gene ENSG00000236299 12 0 0 11 8 42.1053 DAGLB 0 genome.wustl.edu 37 7 6474614 6474614 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 6474614 6474614 T C SNP DAGLB ENST00000297056 human ensembl 74_37 -1 known missense c.457 p.I153V 0.251 NULL pfam_Lipase_3 - no_errors DAGLB HGNC ENSG00000164535 128 0 0 98 32 24.6154 ASL 0 genome.wustl.edu 37 7 65557610 65557610 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 65557610 65557610 G A SNP ASL ENST00000304874 human ensembl 74_37 +1 known missense c.1210 p.A404T 0.098 superfamily_L-Aspartase-like,tigrfam_Argininosuccinate_lyase pfam_Fumarate_lyase_N,superfamily_L-Aspartase-like,prints_Fumarate_lyase_fam,tigrfam_Argininosuccinate_lyase - no_errors ASL HGNC ENSG00000126522 127 0 0 120 50 29.4118 ENSG00000230189 0 genome.wustl.edu 37 7 65915083 65915083 + RNA SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 65915083 65915083 C T SNP ENSG00000230189 ENST00000442578 human ensembl 74_37 -1 known rna NULL NULL 0.984 - - - no_errors GS1-124K5.2 Clone_based_vega_gene ENSG00000230189 49 0 0 30 6 16.6667 POM121 0 genome.wustl.edu 37 7 72412827 72412827 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 72412827 72412827 C T SNP POM121 ENST00000434423 human ensembl 74_37 +1 known silent c.2295 p.S765 0.005 NULL NULL - no_errors POM121 HGNC ENSG00000196313 24 0 0 18 10 35.7143 POM121C 0 genome.wustl.edu 37 7 75052388 75052388 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 75052388 75052388 G T SNP POM121C ENST00000257665 human ensembl 74_37 -1 known missense c.1873 p.L625I 0.021 NULL NULL - no_errors POM121C HGNC ENSG00000135213 20 0 0 13 4 23.5294 POR 0 genome.wustl.edu 37 7 75611608 75611608 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 75611608 75611608 G T SNP POR ENST00000461988 human ensembl 74_37 +1 known missense c.798 p.M266I 1.000 superfamily_Riboflavin_synthase-like_b-brl pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors POR HGNC ENSG00000127948 24 0 0 24 2 7.69231 ZP3 0 genome.wustl.edu 37 7 76071311 76071311 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 76071311 76071311 G A SNP ZP3 ENST00000394857 human ensembl 74_37 +1 known missense c.1213 p.V405I 0.000 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP3 HGNC ENSG00000188372 24 0 0 19 9 32.1429 PTPN12 0 genome.wustl.edu 37 7 77236553 77236553 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 77236553 77236553 G A SNP PTPN12 ENST00000248594 human ensembl 74_37 +1 known missense c.697 p.A233T 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Ptpn_12,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Ptpn_12,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN12 HGNC ENSG00000127947 69 0 0 49 16 24.6154 PHTF2 0 genome.wustl.edu 37 7 77569913 77569913 + Silent SNP T T A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 77569913 77569913 T A SNP PHTF2 ENST00000248550 human ensembl 74_37 +1 known silent c.1809 p.P603 0.969 NULL pfam_TF_homeodomain_male - no_errors PHTF2 HGNC ENSG00000006576 86 0 0 61 18 22.7848 PCLO 0 genome.wustl.edu 37 7 82583831 82583831 + Silent SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 82583831 82583831 T C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known silent c.6438 p.V2146 0.768 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 58 0 0 50 6 10.7143 PCLO 0 genome.wustl.edu 37 7 82784516 82784516 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 82784516 82784516 G T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.1441 p.P481T 0.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 176 0 0 120 45 27.2727 GRM3 0 genome.wustl.edu 37 7 86416293 86416293 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 86416293 86416293 C T SNP GRM3 ENST00000361669 human ensembl 74_37 +1 known silent c.1185 p.N395 0.949 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B - no_errors GRM3 HGNC ENSG00000198822 164 0 0 126 37 22.6994 RUNDC3B 0 genome.wustl.edu 37 7 87329769 87329769 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 87329769 87329769 C T SNP RUNDC3B ENST00000338056 human ensembl 74_37 +1 known missense c.322 p.R108C 1.000 pfam_Run,pfscan_Run pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC3B HGNC ENSG00000105784 50 0 0 23 5 17.8571 DLX5 0 genome.wustl.edu 37 7 96653787 96653787 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 96653787 96653787 G A SNP DLX5 ENST00000222598 human ensembl 74_37 -1 known missense c.149 p.P50L 0.998 pfam_Distal-less_N pfam_Distal-less_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX5 HGNC ENSG00000105880 91 0 0 104 12 10.3448 TECPR1 0 genome.wustl.edu 37 7 97860431 97860431 + Splice_Site SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 97860431 97860431 C T SNP TECPR1 ENST00000379795 human ensembl 74_37 -1 known splice_site c.2128-1 e13-1 1.000 - - - no_errors TECPR1 HGNC ENSG00000205356 25 0 0 17 3 15 BUD31 0 genome.wustl.edu 37 7 99015149 99015149 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 99015149 99015149 C T SNP BUD31 ENST00000222969 human ensembl 74_37 +1 known silent c.315 p.C105 1.000 pfam_G10,prints_G10 pfam_G10,prints_G10 - no_errors BUD31 HGNC ENSG00000106245 82 0 0 41 21 33.871 VPS13B 0 genome.wustl.edu 37 8 100654346 100654346 + Missense_Mutation SNP A A T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 100654346 100654346 A T SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.5603 p.E1868V 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 73 0 0 74 20 21.2766 UBR5 0 genome.wustl.edu 37 8 103340002 103340002 + Silent SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 103340002 103340002 G T SNP UBR5 ENST00000520539 human ensembl 74_37 -1 known silent c.1449 p.T483 1.000 superfamily_RCC1/BLIP-II pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 87 0 0 83 24 22.4299 ABRA 0 genome.wustl.edu 37 8 107782296 107782296 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 107782296 107782296 G A SNP ABRA ENST00000311955 human ensembl 74_37 -1 known silent c.123 p.S41 0.035 NULL NULL - no_errors ABRA HGNC ENSG00000174429 123 0 0 136 42 23.5955 EBAG9 0 genome.wustl.edu 37 8 110563098 110563098 + Silent SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 110563098 110563098 A G SNP EBAG9 ENST00000337573 human ensembl 74_37 +1 known silent c.45 p.L15 0.996 pirsf_Cancer-assoc_antigen_RCAS1 pirsf_Cancer-assoc_antigen_RCAS1 - no_errors EBAG9 HGNC ENSG00000147654 18 0 0 10 4 28.5714 EBAG9 0 genome.wustl.edu 37 8 110576774 110576774 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 110576774 110576774 G A SNP EBAG9 ENST00000337573 human ensembl 74_37 +1 known missense c.628 p.V210M 1.000 pirsf_Cancer-assoc_antigen_RCAS1 pirsf_Cancer-assoc_antigen_RCAS1 - no_errors EBAG9 HGNC ENSG00000147654 72 0 0 84 17 16.8317 CSMD3 0 genome.wustl.edu 37 8 113267603 113267603 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 113267603 113267603 T C SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.9916 p.S3306G 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP 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 CSMD3 HGNC ENSG00000164796 67 0 0 46 12 20.6897 CSMD3 0 genome.wustl.edu 37 8 113988083 113988083 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 113988083 113988083 G T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.1325 p.A442E 1.000 NULL 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 CSMD3 HGNC ENSG00000164796 118 0 0 141 22 13.4969 BLK 0 genome.wustl.edu 37 8 11420558 11420558 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 11420558 11420558 C T SNP BLK ENST00000259089 human ensembl 74_37 +1 known silent c.1251 p.D417 0.792 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 BLK HGNC ENSG00000136573 136 0 0 185 27 12.7358 TRPS1 0 genome.wustl.edu 37 8 116426634 116426634 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 116426634 116426634 C A SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known missense c.3502 p.A1168S 1.000 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 55 0 0 45 13 22.4138 USP17L2 0 genome.wustl.edu 37 8 11995172 11995172 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 11995172 11995172 C A SNP USP17L2 ENST00000333796 human ensembl 74_37 -1 known missense c.1098 p.Q366H 0.989 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19/C67 - no_errors USP17L2 HGNC ENSG00000223443 105 0 0 84 15 15.1515 TAF2 0 genome.wustl.edu 37 8 120844797 120844797 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 120844797 120844797 A G SNP TAF2 ENST00000378164 human ensembl 74_37 -1 known missense c.8 p.L3P 0.851 NULL pfam_Peptidase_M1_N,superfamily_ARM-type_fold - no_errors TAF2 HGNC ENSG00000064313 65 0 0 86 27 23.8938 ENSG00000238460 0 genome.wustl.edu 37 8 12435612 12435612 + RNA SNP A A C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 12435612 12435612 A C SNP ENSG00000238460 ENST00000458954 human ensembl 74_37 +1 novel rna NULL NULL 0.016 - - - no_errors AC068587.2 Clone_based_ensembl_gene ENSG00000238460 415 0 0 331 38 10.2981 TATDN1 0 genome.wustl.edu 37 8 125506109 125506109 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 125506109 125506109 G A SNP TATDN1 ENST00000276692 human ensembl 74_37 -1 known silent c.756 p.H252 0.958 pfam_TatD_family,pirsf_TatD_family pfam_TatD_family,pirsf_TatD_family - no_errors TATDN1 HGNC ENSG00000147687 143 0 0 111 19 14.6154 KIAA0196 0 genome.wustl.edu 37 8 126091168 126091168 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 126091168 126091168 C T SNP KIAA0196 ENST00000318410 human ensembl 74_37 -1 known missense c.523 p.A175T 1.000 pfam_WASH_strumpellin pfam_WASH_strumpellin,superfamily_Ig_E-set - no_errors KIAA0196 HGNC ENSG00000164961 91 0 0 72 25 25.7732 DLC1 0 genome.wustl.edu 37 8 12943849 12943849 + Silent SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 12943849 12943849 G T SNP DLC1 ENST00000276297 human ensembl 74_37 -1 known silent c.4416 p.P1472 1.000 pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 124 0 0 116 28 19.4444 DLC1 0 genome.wustl.edu 37 8 12957883 12957883 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 12957883 12957883 C A SNP DLC1 ENST00000276297 human ensembl 74_37 -1 known missense c.1963 p.G655C 0.972 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 170 0 0 163 25 13.2979 ADCY8 0 genome.wustl.edu 37 8 132051792 132051792 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 132051792 132051792 C T SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known missense c.788 p.G263D 1.000 NULL 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 56 0 0 64 15 18.9873 WISP1 0 genome.wustl.edu 37 8 134225301 134225301 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 134225301 134225301 G A SNP WISP1 ENST00000250160 human ensembl 74_37 +1 known silent c.264 p.T88 0.163 pfam_IGFBP-like,smart_IGFBP-like,pirsf_IGFBP_CNN pfam_IGFBP-like,pfam_VWF_C,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors WISP1 HGNC ENSG00000104415 76 0 0 118 25 17.4825 TRAPPC9 0 genome.wustl.edu 37 8 141461251 141461251 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 141461251 141461251 G A SNP TRAPPC9 ENST00000389328 human ensembl 74_37 -1 known silent c.516 p.H172 1.000 NULL pfam_TRAPP_II_complex_Trs120 - no_errors TRAPPC9 HGNC ENSG00000167632 105 0 0 92 25 21.3675 AGO2 0 genome.wustl.edu 37 8 141561443 141561443 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 141561443 141561443 C T SNP AGO2 ENST00000220592 human ensembl 74_37 -1 known silent c.1362 p.A454 0.086 NULL pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO2 HGNC ENSG00000123908 156 0 0 179 43 19.3694 BAI1 0 genome.wustl.edu 37 8 143603466 143603466 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 143603466 143603466 C T SNP BAI1 ENST00000323289 human ensembl 74_37 +1 known silent c.3165 p.C1055 1.000 pfam_GPCR_2_secretin-like,prints_GPCR_2_secretin-like,pfscan_GPCR_2-like 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 72 0 0 71 17 19.3182 C8orf31 0 genome.wustl.edu 37 8 144126111 144126111 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 144126111 144126111 G A SNP C8orf31 ENST00000395172 human ensembl 74_37 +1 known missense c.232 p.A78T 0.000 NULL NULL - no_errors C8orf31 HGNC ENSG00000177335 77 0 0 61 16 20.7792 FAM83H 0 genome.wustl.edu 37 8 144811445 144811445 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 144811445 144811445 C T SNP FAM83H ENST00000388913 human ensembl 74_37 -1 known missense c.496 p.E166K 0.996 pfam_DUF1669 pfam_DUF1669 - no_errors FAM83H HGNC ENSG00000180921 107 0 0 119 35 22.7273 SCRIB 0 genome.wustl.edu 37 8 144892734 144892734 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 144892734 144892734 T C SNP SCRIB ENST00000320476 human ensembl 74_37 -1 known missense c.1445 p.K482R 1.000 NULL pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC ENSG00000180900 252 1 0.395257 296 64 17.7778 EPPK1 0 genome.wustl.edu 37 8 144944631 144944631 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 144944631 144944631 C T SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known missense c.2791 p.A931T 0.000 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 52 0 0 35 8 18.6047 PLEC 0 genome.wustl.edu 37 8 144992277 144992277 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 144992277 144992277 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known silent c.12123 p.D4041 0.845 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 24 0 0 22 7 24.1379 OPLAH 0 genome.wustl.edu 37 8 145112396 145112396 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 145112396 145112396 G A SNP OPLAH ENST00000426825 human ensembl 74_37 -1 known silent c.1377 p.R459 0.936 pfam_Hydantoinase_A pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N - no_errors OPLAH HGNC ENSG00000178814 21 0 0 18 4 18.1818 SCRT1 0 genome.wustl.edu 37 8 145556953 145556953 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 145556953 145556953 G A SNP SCRT1 ENST00000332135 human ensembl 74_37 -1 known missense c.941 p.A314V 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SCRT1 HGNC ENSG00000170616 37 0 0 29 12 29.2683 SCRT1 0 genome.wustl.edu 37 8 145557181 145557181 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 145557181 145557181 G A SNP SCRT1 ENST00000332135 human ensembl 74_37 -1 known missense c.713 p.A238V 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SCRT1 HGNC ENSG00000170616 26 0 0 22 14 38.8889 SLC52A2 0 genome.wustl.edu 37 8 145583308 145583308 + Silent SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 145583308 145583308 T C SNP SLC52A2 ENST00000329994 human ensembl 74_37 +1 known silent c.156 p.S52 0.763 NULL pfam_Endogenous_retrovirus_rcpt - no_errors SLC52A2 HGNC ENSG00000185803 253 0 0 237 54 18.5567 ZNF7 0 genome.wustl.edu 37 8 146067086 146067086 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 146067086 146067086 C T SNP ZNF7 ENST00000325241 human ensembl 74_37 +1 known silent c.594 p.C198 0.008 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF7 HGNC ENSG00000147789 112 0 0 106 21 16.5354 ZNF16 0 genome.wustl.edu 37 8 146156297 146156297 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 146156297 146156297 C T SNP ZNF16 ENST00000276816 human ensembl 74_37 -1 known missense c.1876 p.E626K 0.998 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF16 HGNC ENSG00000170631 119 0 0 105 26 19.8473 MICU3 0 genome.wustl.edu 37 8 16971623 16971623 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 16971623 16971623 A G SNP MICU3 ENST00000318063 human ensembl 74_37 +1 known missense c.1279 p.R427G 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MICU3 HGNC ENSG00000155970 47 0 0 56 8 12.5 CLN8 0 genome.wustl.edu 37 8 1719304 1719304 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 1719304 1719304 G T SNP CLN8 ENST00000331222 human ensembl 74_37 +1 known missense c.84 p.M28I 0.000 NULL pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom - no_errors CLN8 HGNC ENSG00000182372 124 0 0 125 34 21.3836 MTUS1 0 genome.wustl.edu 37 8 17612040 17612040 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 17612040 17612040 A G SNP MTUS1 ENST00000262102 human ensembl 74_37 -1 known missense c.1277 p.M426T 0.000 NULL superfamily_Ferritin-like_SF - no_errors MTUS1 HGNC ENSG00000129422 139 0 0 118 32 21.3333 PSD3 0 genome.wustl.edu 37 8 18432748 18432748 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 18432748 18432748 G A SNP PSD3 ENST00000440756 human ensembl 74_37 -1 known silent c.2535 p.N845 0.874 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors PSD3 HGNC ENSG00000156011 91 0 0 78 17 17.8947 ARHGEF10 0 genome.wustl.edu 37 8 1905204 1905204 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 1905204 1905204 C T SNP ARHGEF10 ENST00000398564 human ensembl 74_37 +1 known silent c.3885 p.S1295 0.147 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10 HGNC ENSG00000104728 125 0 0 175 18 9.32642 MYOM2 0 genome.wustl.edu 37 8 2046748 2046748 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 2046748 2046748 G A SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known missense c.2375 p.G792D 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM2 HGNC ENSG00000036448 24 0 0 37 7 15.9091 XPO7 0 genome.wustl.edu 37 8 21840178 21840178 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 21840178 21840178 C T SNP XPO7 ENST00000434536 human ensembl 74_37 +1 known missense c.1159 p.H387Y 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO7 HGNC ENSG00000130227 86 0 0 95 27 22.1311 FGF17 0 genome.wustl.edu 37 8 21903771 21903771 + Silent SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 21903771 21903771 C A SNP FGF17 ENST00000359441 human ensembl 74_37 +1 known silent c.219 p.I73 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF17 HGNC ENSG00000158815 106 0 0 95 24 20.1681 FGF17 0 genome.wustl.edu 37 8 21905606 21905606 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 21905606 21905606 G A SNP FGF17 ENST00000359441 human ensembl 74_37 +1 known missense c.497 p.R166H 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF17 HGNC ENSG00000158815 36 0 0 36 8 18.1818 SLC39A14 0 genome.wustl.edu 37 8 22265945 22265945 + Silent SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 22265945 22265945 C A SNP SLC39A14 ENST00000359741 human ensembl 74_37 +1 known silent c.393 p.T131 0.146 NULL pfam_ZIP - no_errors SLC39A14 HGNC ENSG00000104635 107 0 0 116 31 21.0884 EGR3 0 genome.wustl.edu 37 8 22548215 22548215 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 22548215 22548215 C T SNP EGR3 ENST00000317216 human ensembl 74_37 -1 known missense c.935 p.R312Q 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR3 HGNC ENSG00000179388 153 0 0 163 35 17.6768 RHOBTB2 0 genome.wustl.edu 37 8 22864426 22864426 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 22864426 22864426 A G SNP RHOBTB2 ENST00000251822 human ensembl 74_37 +1 known missense c.668 p.N223S 0.997 NULL pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB2 HGNC ENSG00000008853 182 0 0 208 56 21.2121 NKX3-1 0 genome.wustl.edu 37 8 23539062 23539062 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 23539062 23539062 C T SNP NKX3-1 ENST00000380871 human ensembl 74_37 -1 known missense c.377 p.R126H 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX3-1 HGNC ENSG00000167034 185 0 0 199 63 24.0458 NEFL 0 genome.wustl.edu 37 8 24811209 24811209 + RNA SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 24811209 24811209 A G SNP NEFL ENST00000221169 human ensembl 74_37 -1 known rna NULL NULL 0.990 - - - no_errors NEFL HGNC ENSG00000104725 106 0 0 94 32 25.3968 NEFL 0 genome.wustl.edu 37 8 24813312 24813312 + RNA SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 24813312 24813312 A G SNP NEFL ENST00000221169 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors NEFL HGNC ENSG00000104725 35 0 0 48 9 15.7895 CDCA2 0 genome.wustl.edu 37 8 25323706 25323706 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 25323706 25323706 T C SNP CDCA2 ENST00000330560 human ensembl 74_37 +1 known missense c.403 p.Y135H 0.174 NULL NULL - no_errors CDCA2 HGNC ENSG00000184661 60 0 0 53 10 15.873 PPP2R2A 0 genome.wustl.edu 37 8 26227792 26227792 + Nonsense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 26227792 26227792 C T SNP PPP2R2A ENST00000380737 human ensembl 74_37 +1 known nonsense c.1207 p.R403* 1.000 superfamily_WD40_repeat_dom,pirsf_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2A HGNC ENSG00000221914 56 0 0 46 9 16.3636 TRIM35 0 genome.wustl.edu 37 8 27145134 27145134 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 27145134 27145134 G A SNP TRIM35 ENST00000305364 human ensembl 74_37 -1 known missense c.1415 p.A472V 0.004 superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM35 HGNC ENSG00000104228 24 0 0 17 8 32 EXTL3 0 genome.wustl.edu 37 8 28575242 28575242 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 28575242 28575242 C T SNP EXTL3 ENST00000220562 human ensembl 74_37 +1 known missense c.1666 p.R556C 1.000 NULL pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXTL3 HGNC ENSG00000012232 105 0 0 101 25 19.8413 FUT10 0 genome.wustl.edu 37 8 33247281 33247281 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 33247281 33247281 G A SNP FUT10 ENST00000327671 human ensembl 74_37 -1 known missense c.412 p.R138W 1.000 pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met - no_errors FUT10 HGNC ENSG00000172728 85 0 0 85 19 18.2692 KCNU1 0 genome.wustl.edu 37 8 36780117 36780117 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 36780117 36780117 C T SNP KCNU1 ENST00000399881 human ensembl 74_37 +1 known silent c.2706 p.S902 0.036 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu - no_errors KCNU1 HGNC ENSG00000215262 50 0 0 50 12 19.3548 ASH2L 0 genome.wustl.edu 37 8 37974227 37974227 + Silent SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 37974227 37974227 T C SNP ASH2L ENST00000343823 human ensembl 74_37 +1 known silent c.837 p.T279 0.934 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY - no_errors ASH2L HGNC ENSG00000129691 49 0 0 51 5 8.92857 PLEKHA2 0 genome.wustl.edu 37 8 38809830 38809830 + Silent SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 38809830 38809830 G T SNP PLEKHA2 ENST00000420274 human ensembl 74_37 +1 known silent c.633 p.V211 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA2 HGNC ENSG00000169499 25 0 0 26 6 18.75 ADAM2 0 genome.wustl.edu 37 8 39644523 39644523 + Silent SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 39644523 39644523 A G SNP ADAM2 ENST00000265708 human ensembl 74_37 -1 known silent c.861 p.C287 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM2 HGNC ENSG00000104755 58 0 0 57 11 16.1765 SFRP1 0 genome.wustl.edu 37 8 41166419 41166419 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 41166419 41166419 A G SNP SFRP1 ENST00000220772 human ensembl 74_37 -1 known missense c.260 p.M87T 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors SFRP1 HGNC ENSG00000104332 27 0 0 34 11 24.4444 ANK1 0 genome.wustl.edu 37 8 41551449 41551449 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 41551449 41551449 T C SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known missense c.3499 p.T1167A 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 26 0 0 33 8 19.5122 IKBKB 0 genome.wustl.edu 37 8 42151029 42151029 + Silent SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 42151029 42151029 T C SNP IKBKB ENST00000520810 human ensembl 74_37 +1 known silent c.387 p.I129 0.855 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ubiquitin_supergroup,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors IKBKB HGNC ENSG00000104365 85 0 0 78 18 18.75 HOOK3 0 genome.wustl.edu 37 8 42819545 42819545 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 42819545 42819545 C A SNP HOOK3 ENST00000307602 human ensembl 74_37 +1 known missense c.707 p.P236H 1.000 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_t-SNARE - no_errors HOOK3 HGNC ENSG00000168172 83 0 0 71 13 15.4762 HGSNAT 0 genome.wustl.edu 37 8 43037356 43037356 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 43037356 43037356 G A SNP HGSNAT ENST00000458501 human ensembl 74_37 +1 known missense c.1165 p.V389M 0.170 pfam_DUF1624 pfam_DUF1624 - no_errors HGSNAT HGNC ENSG00000165102 471 2 0.422833 395 91 18.7243 SNAI2 0 genome.wustl.edu 37 8 49832848 49832848 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 49832848 49832848 C T SNP SNAI2 ENST00000020945 human ensembl 74_37 -1 known missense c.232 p.G78R 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI2 HGNC ENSG00000019549 167 0 0 159 32 16.7539 TCEA1 0 genome.wustl.edu 37 8 54900776 54900776 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 54900776 54900776 C T SNP TCEA1 ENST00000521604 human ensembl 74_37 -1 known missense c.364 p.A122T 0.996 superfamily_TFIIS_cen_dom,pirsf_TF_IIS-rel,tigrfam_TFSII pfam_TFIIS_cen_dom,pfam_Znf_TFIIS,pfam_TFIIS_N,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_TFS2M,smart_Znf_TFIIS,pirsf_TF_IIS-rel,pfscan_Znf_TFIIS,tigrfam_TFSII - no_errors TCEA1 HGNC ENSG00000187735 25 0 0 28 9 24.3243 XKR4 0 genome.wustl.edu 37 8 56436612 56436612 + Silent SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 56436612 56436612 A G SNP XKR4 ENST00000327381 human ensembl 74_37 +1 known silent c.1779 p.S593 0.000 NULL pfam_Transport_prot_XK - no_errors XKR4 HGNC ENSG00000206579 123 0 0 123 40 24.5399 CHD7 0 genome.wustl.edu 37 8 61757811 61757811 + Silent SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 61757811 61757811 T C SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known silent c.5053 p.L1685 0.965 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 61 0 0 71 25 26.0417 PPP1R42 0 genome.wustl.edu 37 8 67900734 67900734 + Missense_Mutation SNP T T G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 67900734 67900734 T G SNP PPP1R42 ENST00000522909 human ensembl 74_37 -1 known missense c.571 p.N191H 0.881 NULL pfam_Leu-rich_rpt - no_errors PPP1R42 HGNC ENSG00000178125 29 0 0 26 4 13.3333 CSPP1 0 genome.wustl.edu 37 8 68007920 68007920 + Silent SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 68007920 68007920 T C SNP CSPP1 ENST00000262210 human ensembl 74_37 +1 known silent c.903 p.Y301 1.000 NULL NULL - no_errors CSPP1 HGNC ENSG00000104218 45 0 0 47 13 21.6667 C8orf34 0 genome.wustl.edu 37 8 69358682 69358682 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 69358682 69358682 G A SNP C8orf34 ENST00000518698 human ensembl 74_37 +1 known silent c.594 p.P198 0.933 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C8orf34 HGNC ENSG00000165084 50 0 0 38 5 11.6279 SULF1 0 genome.wustl.edu 37 8 70515459 70515459 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 70515459 70515459 C T SNP SULF1 ENST00000260128 human ensembl 74_37 +1 known missense c.1094 p.A365V 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 229 0 0 236 59 20 SLCO5A1 0 genome.wustl.edu 37 8 70744002 70744002 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 70744002 70744002 C T SNP SLCO5A1 ENST00000260126 human ensembl 74_37 -1 known missense c.907 p.A303T 1.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,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 SLCO5A1 HGNC ENSG00000137571 109 0 0 93 18 16.2162 EYA1 0 genome.wustl.edu 37 8 72127929 72127929 + Silent SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 72127929 72127929 C A SNP EYA1 ENST00000340726 human ensembl 74_37 -1 known silent c.1395 p.L465 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA1 HGNC ENSG00000104313 70 0 0 75 15 16.6667 JPH1 0 genome.wustl.edu 37 8 75233296 75233296 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 75233296 75233296 G A SNP JPH1 ENST00000342232 human ensembl 74_37 -1 known missense c.227 p.T76M 1.000 pfam_MORN,smart_MORN,pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH1 HGNC ENSG00000104369 66 0 0 66 25 27.4725 ZFHX4 0 genome.wustl.edu 37 8 77765070 77765070 + Missense_Mutation SNP A A T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 77765070 77765070 A T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.5913 p.Q1971H 0.999 superfamily_Adenylate_cyclase-assoc_CAP_N,pfscan_Znf_C2H2 pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 55 0 0 51 18 26.087 ZFHX4 0 genome.wustl.edu 37 8 77767659 77767659 + Silent SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 77767659 77767659 A G SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known silent c.8502 p.K2834 0.849 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 50 0 0 44 15 25.4237 SGK223 0 genome.wustl.edu 37 8 8176630 8176630 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 8176630 8176630 G A SNP SGK223 ENST00000330777 human ensembl 74_37 -1 known silent c.3255 p.C1085 0.979 smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors SGK223 Uniprot_gn ENSG00000182319 111 0 0 124 29 18.9542 LRRCC1 0 genome.wustl.edu 37 8 86049698 86049698 + Splice_Site SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 86049698 86049698 G T SNP LRRCC1 ENST00000360375 human ensembl 74_37 +1 known splice_site c.2330-1 e15-1 1.000 - - - no_errors LRRCC1 HGNC ENSG00000133739 32 0 0 52 9 14.7541 CA1 0 genome.wustl.edu 37 8 86253877 86253877 + RNA SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 86253877 86253877 A G SNP CA1 ENST00000518341 human ensembl 74_37 -1 known rna NULL NULL 0.245 - - - no_errors CA1 HGNC ENSG00000133742 42 0 0 43 6 12.2449 RMDN1 0 genome.wustl.edu 37 8 87487047 87487047 + Splice_Site SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 87487047 87487047 A G SNP RMDN1 ENST00000406452 human ensembl 74_37 -1 known splice_site c.894+2 e9+2 1.000 - - - no_errors RMDN1 HGNC ENSG00000176623 108 0 0 91 5 5.20833 PPP1R3B 0 genome.wustl.edu 37 8 8998651 8998651 + Missense_Mutation SNP T T G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 8998651 8998651 T G SNP PPP1R3B ENST00000310455 human ensembl 74_37 -1 known missense c.511 p.S171R 1.000 pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21 pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21 - no_errors PPP1R3B HGNC ENSG00000173281 183 0 0 182 45 19.8238 RIPK2 0 genome.wustl.edu 37 8 90770378 90770378 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 90770378 90770378 C T SNP RIPK2 ENST00000220751 human ensembl 74_37 +1 known silent c.90 p.G30 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,pirsf_Rcpt-int_Ser/Thr_kinase-2,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CARD,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Rcpt-int_Ser/Thr_kinase-2,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_CARD,pfscan_Prot_kinase_dom - no_errors RIPK2 HGNC ENSG00000104312 24 0 0 17 4 19.0476 SLC26A7 0 genome.wustl.edu 37 8 92365208 92365208 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 92365208 92365208 T C SNP SLC26A7 ENST00000309536 human ensembl 74_37 +1 known missense c.1298 p.V433A 1.000 pfam_Sulph_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A7 HGNC ENSG00000147606 68 0 0 63 9 12.5 RUNX1T1 0 genome.wustl.edu 37 8 92983012 92983012 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 92983012 92983012 C T SNP RUNX1T1 ENST00000436581 human ensembl 74_37 -1 known silent c.1446 p.A482 0.012 prints_ETO pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8 - no_errors RUNX1T1 HGNC ENSG00000079102 71 0 0 68 26 27.6596 RBM12B 0 genome.wustl.edu 37 8 94746566 94746566 + Nonsense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 94746566 94746566 C T SNP RBM12B ENST00000399300 human ensembl 74_37 -1 known nonsense c.2073 p.W691* 0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12B HGNC ENSG00000183808 294 0 0 352 79 18.3295 TNKS 0 genome.wustl.edu 37 8 9622250 9622250 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 9622250 9622250 A G SNP TNKS ENST00000310430 human ensembl 74_37 +1 known missense c.3397 p.R1133G 1.000 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS HGNC ENSG00000173273 75 0 0 60 8 11.7647 TSPYL5 0 genome.wustl.edu 37 8 98290066 98290066 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 98290066 98290066 C T SNP TSPYL5 ENST00000322128 human ensembl 74_37 -1 known missense c.7 p.G3S 1.000 NULL pfam_NAP_family - no_errors TSPYL5 HGNC ENSG00000180543 20 0 0 16 5 23.8095 POP1 0 genome.wustl.edu 37 8 99170031 99170031 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 99170031 99170031 C T SNP POP1 ENST00000349693 human ensembl 74_37 +1 known silent c.2607 p.P869 0.000 NULL pfam_RNase_P/MRP_POP1,pfam_POPLD - no_errors POP1 HGNC ENSG00000104356 99 0 0 109 18 14.1732 ABCA1 0 genome.wustl.edu 37 9 107571802 107571802 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 107571802 107571802 C T SNP ABCA1 ENST00000374736 human ensembl 74_37 -1 known missense c.4219 p.A1407T 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 69 0 0 54 15 21.7391 ZNF462 0 genome.wustl.edu 37 9 109690810 109690810 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 109690810 109690810 G A SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known silent c.4617 p.P1539 0.629 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 51 0 0 50 16 24.2424 ZNF462 0 genome.wustl.edu 37 9 109773180 109773180 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 109773180 109773180 C T SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known missense c.7570 p.P2524S 0.832 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 48 0 0 28 7 20 KLF4 0 genome.wustl.edu 37 9 110250473 110250473 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 110250473 110250473 C T SNP KLF4 ENST00000374672 human ensembl 74_37 -1 known missense c.202 p.A68T 0.999 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF4 HGNC ENSG00000136826 43 0 0 38 8 17.3913 PALM2 0 genome.wustl.edu 37 9 112705624 112705624 + Missense_Mutation SNP A A C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 112705624 112705624 A C SNP PALM2 ENST00000448454 human ensembl 74_37 +1 known missense c.1161 p.E387D 1.000 pfam_Paralemmin pfam_Paralemmin - no_errors PALM2 HGNC ENSG00000243444 111 0 0 115 11 8.73016 TXN 0 genome.wustl.edu 37 9 113013693 113013693 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 113013693 113013693 A G SNP TXN ENST00000374517 human ensembl 74_37 -1 known missense c.74 p.V25A 1.000 pfam_Thioredoxin_domain,pfam_mRNA_splic_U5,superfamily_Thioredoxin-like_fold,prints_Thioredoxin pfam_Thioredoxin_domain,pfam_mRNA_splic_U5,superfamily_Thioredoxin-like_fold,prints_Thioredoxin - no_errors TXN HGNC ENSG00000136810 61 0 0 37 17 31.4815 SVEP1 0 genome.wustl.edu 37 9 113141745 113141745 + Silent SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 113141745 113141745 T C SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known silent c.10290 p.V3430 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 40 0 0 25 8 24.2424 ZNF483 0 genome.wustl.edu 37 9 114304767 114304767 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 114304767 114304767 A G SNP ZNF483 ENST00000309235 human ensembl 74_37 +1 known missense c.1552 p.T518A 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF483 HGNC ENSG00000173258 57 0 0 39 12 23.5294 C9orf84 0 genome.wustl.edu 37 9 114453907 114453907 + Silent SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 114453907 114453907 T C SNP C9orf84 ENST00000318737 human ensembl 74_37 -1 known silent c.4158 p.Q1386 0.952 NULL superfamily_RuvA_2-like - no_errors C9orf84 HGNC ENSG00000165181 56 0 0 27 11 28.9474 ZFP37 0 genome.wustl.edu 37 9 115805377 115805377 + Silent SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 115805377 115805377 A G SNP ZFP37 ENST00000553380 human ensembl 74_37 -1 known silent c.1566 p.H522 0.953 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 ZFP37 HGNC ENSG00000136866 50 0 0 46 15 24.5902 BRINP1 0 genome.wustl.edu 37 9 121929807 121929807 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 121929807 121929807 G A SNP BRINP1 ENST00000265922 human ensembl 74_37 -1 known missense c.1841 p.T614M 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP1 HGNC ENSG00000078725 190 0 0 139 42 23.2044 CRB2 0 genome.wustl.edu 37 9 126133621 126133621 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 126133621 126133621 G A SNP CRB2 ENST00000373631 human ensembl 74_37 +1 known missense c.2200 p.G734R 0.001 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB2 HGNC ENSG00000148204 148 0 0 114 43 27.3885 CRB2 0 genome.wustl.edu 37 9 126134595 126134595 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 126134595 126134595 G A SNP CRB2 ENST00000373631 human ensembl 74_37 +1 known missense c.2576 p.C859Y 1.000 superfamily_ConA-like_lec_gl_sf pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB2 HGNC ENSG00000148204 121 1 0.819672 82 32 28.0702 PPP6C 0 genome.wustl.edu 37 9 127911967 127911967 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 127911967 127911967 C T SNP PPP6C ENST00000451402 human ensembl 74_37 -1 known silent c.1014 p.T338 1.000 NULL pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP6C HGNC ENSG00000119414 95 0 0 40 13 24.5283 ZBTB43 0 genome.wustl.edu 37 9 129596068 129596068 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 129596068 129596068 C T SNP ZBTB43 ENST00000373457 human ensembl 74_37 +1 known missense c.1280 p.P427L 1.000 pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB43 HGNC ENSG00000169155 198 0 0 129 43 25 FPGS 0 genome.wustl.edu 37 9 130571113 130571113 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 130571113 130571113 C T SNP FPGS ENST00000373228 human ensembl 74_37 +1 known missense c.857 p.S286F 0.000 NULL superfamily_Mur_ligase_cen,tigrfam_Folylpolyglutamate_synth - no_errors FPGS HGNC ENSG00000136877 10 0 0 3 3 50 NAIF1 0 genome.wustl.edu 37 9 130829050 130829050 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 130829050 130829050 C T SNP NAIF1 ENST00000373078 human ensembl 74_37 -1 known missense c.331 p.G111S 0.625 NULL NULL - no_errors NAIF1 HGNC ENSG00000171169 102 0 0 75 22 22.6804 SLC25A25 0 genome.wustl.edu 37 9 130868770 130868770 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 130868770 130868770 T C SNP SLC25A25 ENST00000373069 human ensembl 74_37 +1 known missense c.1183 p.Y395H 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC - no_errors SLC25A25 HGNC ENSG00000148339 157 0 0 109 43 28.2895 CIZ1 0 genome.wustl.edu 37 9 130941148 130941148 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 130941148 130941148 C A SNP CIZ1 ENST00000538431 human ensembl 74_37 -1 known missense c.1338 p.Q446H 0.004 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin - no_errors CIZ1 HGNC ENSG00000148337 208 0 0 173 62 26.383 DNM1 0 genome.wustl.edu 37 9 130984785 130984785 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 130984785 130984785 C T SNP DNM1 ENST00000372923 human ensembl 74_37 +1 known silent c.1038 p.G346 0.999 pfam_Dynamin_central pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF - no_errors DNM1 HGNC ENSG00000106976 137 0 0 93 37 28.4615 PPP2R4 0 genome.wustl.edu 37 9 131885369 131885369 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 131885369 131885369 C T SNP PPP2R4 ENST00000452489 human ensembl 74_37 +1 known silent c.168 p.N56 0.922 pfam_Phstyr_phstse_ac,pirsf_Phstyr_phstse_ac pfam_Phstyr_phstse_ac,pirsf_Phstyr_phstse_ac - no_errors PPP2R4 HGNC ENSG00000119383 215 0 0 173 51 22.7679 LAMC3 0 genome.wustl.edu 37 9 133901811 133901811 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 133901811 133901811 C T SNP LAMC3 ENST00000361069 human ensembl 74_37 +1 known silent c.513 p.Y171 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC ENSG00000050555 92 0 0 76 23 23.2323 GTF3C4 0 genome.wustl.edu 37 9 135553584 135553584 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 135553584 135553584 T C SNP GTF3C4 ENST00000372146 human ensembl 74_37 +1 known missense c.578 p.I193T 1.000 NULL superfamily_WD40_repeat_dom - no_errors GTF3C4 HGNC ENSG00000125484 90 0 0 69 31 31 AK8 0 genome.wustl.edu 37 9 135739050 135739050 + Splice_Site SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 135739050 135739050 A G SNP AK8 ENST00000298545 human ensembl 74_37 -1 known splice_site c.333+2 e4+2 1.000 - - - no_errors AK8 HGNC ENSG00000165695 27 0 0 27 5 15.625 ADAMTSL2 0 genome.wustl.edu 37 9 136406014 136406014 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 136406014 136406014 C T SNP ADAMTSL2 ENST00000393061 human ensembl 74_37 +1 known silent c.900 p.D300 0.999 prints_Peptidase_M12B_ADAM-TS pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL2 HGNC ENSG00000197859 54 0 0 41 12 22.6415 SARDH 0 genome.wustl.edu 37 9 136594912 136594912 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 136594912 136594912 A G SNP SARDH ENST00000371872 human ensembl 74_37 -1 known missense c.890 p.V297A 1.000 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C - no_errors SARDH HGNC ENSG00000123453 92 0 0 79 23 22.549 PPP1R26 0 genome.wustl.edu 37 9 138377333 138377333 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 138377333 138377333 G A SNP PPP1R26 ENST00000356818 human ensembl 74_37 +1 known missense c.977 p.R326H 0.000 NULL NULL - no_errors PPP1R26 HGNC ENSG00000196422 124 0 0 92 25 21.3675 C9orf116 0 genome.wustl.edu 37 9 138387292 138387292 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 138387292 138387292 C A SNP C9orf116 ENST00000429260 human ensembl 74_37 -1 known missense c.392 p.R131M 0.000 NULL NULL - no_errors C9orf116 HGNC ENSG00000160345 102 0 0 69 30 30.303 NOTCH1 0 genome.wustl.edu 37 9 139400304 139400304 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 139400304 139400304 G A SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known silent c.4044 p.D1348 0.952 smart_EGF-like_Ca-bd_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 21 0 0 21 6 22.2222 AGPAT2 0 genome.wustl.edu 37 9 139571443 139571443 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 139571443 139571443 G A SNP AGPAT2 ENST00000371696 human ensembl 74_37 -1 known silent c.462 p.A154 0.161 pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,tigrfam_AGP_acyltrans pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,tigrfam_AGP_acyltrans - no_errors AGPAT2 HGNC ENSG00000169692 164 0 0 101 38 27.3381 FAM69B 0 genome.wustl.edu 37 9 139617494 139617494 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 139617494 139617494 G A SNP FAM69B ENST00000371692 human ensembl 74_37 +1 known silent c.564 p.R188 0.995 NULL pfam_FAM69_kinase_dom - no_errors FAM69B HGNC ENSG00000165716 63 0 0 51 19 27.1429 RABL6 0 genome.wustl.edu 37 9 139726255 139726255 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 139726255 139726255 G A SNP RABL6 ENST00000371663 human ensembl 74_37 +1 known missense c.541 p.G181S 1.000 superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,prints_Small_GTPase - no_errors RABL6 HGNC ENSG00000196642 41 0 0 53 21 28.3784 FBXW5 0 genome.wustl.edu 37 9 139836927 139836927 + RNA SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 139836927 139836927 G A SNP FBXW5 ENST00000483559 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FBXW5 HGNC ENSG00000159069 49 0 0 46 27 36.9863 ABCA2 0 genome.wustl.edu 37 9 139910762 139910762 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 139910762 139910762 C T SNP ABCA2 ENST00000265662 human ensembl 74_37 -1 known missense c.3085 p.A1029T 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ENSG00000107331 55 0 0 36 17 32.0755 GRIN1 0 genome.wustl.edu 37 9 140055866 140055866 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 140055866 140055866 C T SNP GRIN1 ENST00000371561 human ensembl 74_37 +1 known missense c.1465 p.R489W 1.000 pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_CaM-bd_C0_NMDA_rcpt_NR1,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN1 HGNC ENSG00000176884 45 0 0 21 4 16 SLC34A3 0 genome.wustl.edu 37 9 140127764 140127764 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 140127764 140127764 C T SNP SLC34A3 ENST00000361134 human ensembl 74_37 +1 known silent c.664 p.L222 0.459 tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt - no_errors SLC34A3 HGNC ENSG00000198569 12 0 0 10 7 41.1765 FAM166A 0 genome.wustl.edu 37 9 140140252 140140252 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 140140252 140140252 C T SNP FAM166A ENST00000344774 human ensembl 74_37 -1 known missense c.110 p.R37H 0.995 pfam_UPF0573/UPF0605 pfam_UPF0573/UPF0605 - no_errors FAM166A HGNC ENSG00000188163 57 0 0 51 13 20.3125 PNPLA7 0 genome.wustl.edu 37 9 140400150 140400150 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 140400150 140400150 G A SNP PNPLA7 ENST00000406427 human ensembl 74_37 -1 known silent c.1389 p.H463 0.000 NULL pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA7 HGNC ENSG00000130653 207 0 0 115 50 30.303 PNPLA7 0 genome.wustl.edu 37 9 140416106 140416106 + Silent SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 140416106 140416106 G T SNP PNPLA7 ENST00000406427 human ensembl 74_37 -1 known silent c.939 p.T313 1.000 NULL pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA7 HGNC ENSG00000130653 87 0 0 81 15 15.625 ARRDC1 0 genome.wustl.edu 37 9 140508231 140508231 + RNA SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 140508231 140508231 G A SNP ARRDC1 ENST00000466367 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors ARRDC1 HGNC ENSG00000197070 151 0 0 116 32 21.6216 EHMT1 0 genome.wustl.edu 37 9 140611266 140611266 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 140611266 140611266 G A SNP EHMT1 ENST00000460843 human ensembl 74_37 +1 known missense c.274 p.A92T 0.084 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENSG00000181090 129 0 0 96 36 27.2727 CACNA1B 0 genome.wustl.edu 37 9 141016165 141016165 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 141016165 141016165 G A SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known missense c.6737 p.S2246N 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 84 0 0 60 25 29.4118 CBWD1 0 genome.wustl.edu 37 9 164038 164038 + Splice_Site SNP C C G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 164038 164038 C G SNP CBWD1 ENST00000356521 human ensembl 74_37 -1 known splice_site c.431-1 e5-1 1.000 - - - no_errors CBWD1 HGNC ENSG00000172785 101 0 0 115 9 7.25806 BNC2 0 genome.wustl.edu 37 9 16435650 16435650 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 16435650 16435650 C T SNP BNC2 ENST00000380672 human ensembl 74_37 -1 known missense c.2542 p.V848M 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC ENSG00000173068 60 0 0 55 22 28.5714 ADAMTSL1 0 genome.wustl.edu 37 9 18504860 18504860 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 18504860 18504860 G A SNP ADAMTSL1 ENST00000327883 human ensembl 74_37 +1 known missense c.97 p.D33N 1.000 superfamily_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL1 HGNC ENSG00000178031 128 0 0 87 26 23.0088 PTENP1 0 genome.wustl.edu 37 9 33675379 33675379 + RNA SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 33675379 33675379 C A SNP PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors PTENP1 HGNC ENSG00000237984 22 0 0 28 3 9.67742 KIAA1161 0 genome.wustl.edu 37 9 34372511 34372511 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 34372511 34372511 T C SNP KIAA1161 ENST00000297625 human ensembl 74_37 -1 known missense c.329 p.H110R 1.000 NULL pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF - no_errors KIAA1161 HGNC ENSG00000164976 21 0 0 13 8 38.0952 MELK 0 genome.wustl.edu 37 9 36657290 36657290 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 36657290 36657290 C T SNP MELK ENST00000298048 human ensembl 74_37 +1 known missense c.1106 p.A369V 0.716 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MELK HGNC ENSG00000165304 32 0 0 26 12 31.5789 FRMPD1 0 genome.wustl.edu 37 9 37745147 37745147 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 37745147 37745147 G T SNP FRMPD1 ENST00000377765 human ensembl 74_37 +1 known missense c.3118 p.D1040Y 0.888 NULL pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD1 HGNC ENSG00000070601 214 0 0 153 53 25.7282 TRMT10B 0 genome.wustl.edu 37 9 37763751 37763751 + Splice_Site SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 37763751 37763751 G A SNP TRMT10B ENST00000297994 human ensembl 74_37 +1 known splice_site c.420+1 e3+1 1.000 - - - no_errors TRMT10B HGNC ENSG00000165275 72 0 0 44 18 29.0323 GLIS3 0 genome.wustl.edu 37 9 4117878 4117878 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 4117878 4117878 A G SNP GLIS3 ENST00000381971 human ensembl 74_37 -1 known missense c.1600 p.F534L 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS3 HGNC ENSG00000107249 131 0 0 133 12 8.27586 DOCK8 0 genome.wustl.edu 37 9 429834 429834 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 429834 429834 T C SNP DOCK8 ENST00000453981 human ensembl 74_37 +1 known missense c.4606 p.F1536L 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 47 0 0 44 20 31.25 SPATA6L 0 genome.wustl.edu 37 9 4635321 4635321 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 4635321 4635321 G T SNP SPATA6L ENST00000454239 human ensembl 74_37 -1 known missense c.305 p.P102H 0.017 NULL NULL - no_errors SPATA6L HGNC ENSG00000106686 54 0 0 42 12 22.2222 PPAPDC2 0 genome.wustl.edu 37 9 4663138 4663138 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 4663138 4663138 C T SNP PPAPDC2 ENST00000381883 human ensembl 74_37 +1 known missense c.763 p.R255W 0.977 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAPDC2 HGNC ENSG00000205808 98 0 0 62 22 26.1905 INSL4 0 genome.wustl.edu 37 9 5233697 5233697 + Silent SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 5233697 5233697 T C SNP INSL4 ENST00000239316 human ensembl 74_37 +1 known silent c.240 p.G80 0.000 superfamily_Insulin-like,prints_Relaxin superfamily_Insulin-like,prints_Placentin,prints_Relaxin - no_errors INSL4 HGNC ENSG00000120211 48 0 0 29 18 38.2979 APBA1 0 genome.wustl.edu 37 9 72067157 72067157 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 72067157 72067157 T C SNP APBA1 ENST00000265381 human ensembl 74_37 -1 known missense c.1849 p.R617G 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA1 HGNC ENSG00000107282 113 0 0 82 27 24.7706 APBA1 0 genome.wustl.edu 37 9 72082837 72082837 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 72082837 72082837 C T SNP APBA1 ENST00000265381 human ensembl 74_37 -1 known missense c.1384 p.A462T 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA1 HGNC ENSG00000107282 269 0 0 201 70 25.8303 SMC5 0 genome.wustl.edu 37 9 72901115 72901115 + Splice_Site SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 72901115 72901115 G T SNP SMC5 ENST00000361138 human ensembl 74_37 +1 known splice_site c.982-1 e8-1 1.000 - - - no_errors SMC5 HGNC ENSG00000198887 59 0 0 49 15 23.4375 GDA 0 genome.wustl.edu 37 9 74817603 74817603 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 74817603 74817603 C T SNP GDA ENST00000238018 human ensembl 74_37 +1 known missense c.329 p.A110V 0.148 pfam_Amidohydro_1,tigrfam_Guanine_deaminase pfam_Amidohydro_1,tigrfam_Guanine_deaminase - no_errors GDA HGNC ENSG00000119125 190 0 0 130 45 25.7143 PCSK5 0 genome.wustl.edu 37 9 78911728 78911728 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 78911728 78911728 G A SNP PCSK5 ENST00000545128 human ensembl 74_37 +1 known missense c.3470 p.R1157H 0.000 smart_Furin_repeat,smart_EG-like_dom pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 170 0 0 98 43 30.4965 PSAT1 0 genome.wustl.edu 37 9 80943978 80943978 + Missense_Mutation SNP A A T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 80943978 80943978 A T SNP PSAT1 ENST00000376588 human ensembl 74_37 +1 known missense c.1089 p.K363N 0.022 superfamily_PyrdxlP-dep_Trfase,pirsf_Pser_aminoTfrase,tigrfam_Pser_aminoTfrase_subgr pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,pirsf_Pser_aminoTfrase,tigrfam_Pser_aminoTfrase_subgr - no_errors PSAT1 HGNC ENSG00000135069 96 0 0 53 20 27.3973 PTPRD 0 genome.wustl.edu 37 9 8341229 8341229 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 8341229 8341229 T C SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.4987 p.S1663G 1.000 smart_Tyr_Pase_rcpt/non-rcpt,pfscan_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 171 0 0 102 32 23.8806 GAS1 0 genome.wustl.edu 37 9 89560829 89560829 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 89560829 89560829 C T SNP GAS1 ENST00000298743 human ensembl 74_37 -1 known missense c.866 p.G289D 0.998 NULL pfam_GDNF/GAS1,smart_GDNF/GAS1 - no_errors GAS1 HGNC ENSG00000180447 13 0 0 5 3 37.5 DAPK1 0 genome.wustl.edu 37 9 90317955 90317955 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 90317955 90317955 C T SNP DAPK1 ENST00000469640 human ensembl 74_37 +1 known silent c.2958 p.P986 0.140 NULL pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 109 0 0 73 22 23.1579 DAPK1 0 genome.wustl.edu 37 9 90321386 90321386 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 90321386 90321386 G A SNP DAPK1 ENST00000469640 human ensembl 74_37 +1 known missense c.3475 p.V1159M 0.996 NULL pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 57 0 0 49 12 19.6721 ENSG00000237743 0 genome.wustl.edu 37 9 90452061 90452061 + RNA SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 90452061 90452061 G A SNP ENSG00000237743 ENST00000415441 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors XXyac-YM21GA2.6 Clone_based_vega_gene ENSG00000237743 14 0 0 19 7 26.9231 SEMA4D 0 genome.wustl.edu 37 9 92006233 92006233 + Silent SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 92006233 92006233 C A SNP SEMA4D ENST00000356444 human ensembl 74_37 -1 known silent c.720 p.V240 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,pfam_Immunoglobulin,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4D HGNC ENSG00000187764 111 0 0 85 32 27.3504 IARS 0 genome.wustl.edu 37 9 95033316 95033316 + Nonsense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 95033316 95033316 G A SNP IARS ENST00000375643 human ensembl 74_37 -1 known nonsense c.1156 p.R386* 1.000 pfam_aa-tRNA-synth_Ia,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Ile-tRNA-ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase - no_errors IARS HGNC ENSG00000196305 135 0 0 79 26 24.7619 HABP4 0 genome.wustl.edu 37 9 99220764 99220764 + Nonsense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 99220764 99220764 C A SNP HABP4 ENST00000375249 human ensembl 74_37 +1 known nonsense c.453 p.Y151* 0.685 NULL pfam_HABP4_PAIRBP1-bd - no_errors HABP4 HGNC ENSG00000130956 98 0 0 88 31 26.0504 TIMM8A 0 genome.wustl.edu 37 X 100601606 100601606 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 100601606 100601606 C T SNP TIMM8A ENST00000372902 human ensembl 74_37 -1 known missense c.175 p.A59T 1.000 pfam_Tim10/DDP_fam_Znf,superfamily_Tim10/DDP_fam_Znf pfam_Tim10/DDP_fam_Znf,superfamily_Tim10/DDP_fam_Znf - no_errors TIMM8A HGNC ENSG00000126953 150 0 0 134 9 6.29371 FRMPD3 0 genome.wustl.edu 37 X 106844186 106844186 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 106844186 106844186 G T SNP FRMPD3 ENST00000276185 human ensembl 74_37 +1 known missense c.3016 p.G1006C 0.000 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD3 HGNC ENSG00000147234 19 0 0 6 7 53.8462 COL4A5 0 genome.wustl.edu 37 X 107867516 107867516 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 107867516 107867516 C T SNP COL4A5 ENST00000328300 human ensembl 74_37 +1 known missense c.2968 p.P990S 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 18 0 0 8 10 55.5556 ARHGAP6 0 genome.wustl.edu 37 X 11162014 11162014 + Silent SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 11162014 11162014 G T SNP ARHGAP6 ENST00000380718 human ensembl 74_37 -1 known silent c.2262 p.T754 0.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ENSG00000047648 150 0 0 79 90 53.2544 AMOT 0 genome.wustl.edu 37 X 112054536 112054536 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 112054536 112054536 A G SNP AMOT ENST00000371959 human ensembl 74_37 -1 known missense c.1478 p.M493T 1.000 superfamily_Prefoldin,prints_Angiomotin pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin - no_errors AMOT HGNC ENSG00000126016 137 0 0 59 57 49.1379 TENM1 0 genome.wustl.edu 37 X 123519752 123519752 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 123519752 123519752 T C SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.5851 p.T1951A 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 94 0 0 36 50 58.1395 HS6ST2 0 genome.wustl.edu 37 X 131762868 131762868 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 131762868 131762868 C A SNP HS6ST2 ENST00000521489 human ensembl 74_37 -1 known missense c.1321 p.G441C 1.000 pfam_Sulfotransferase pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS6ST2 HGNC ENSG00000171004 61 0 0 39 24 38.0952 GPC3 0 genome.wustl.edu 37 X 132888179 132888179 + Missense_Mutation SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 132888179 132888179 T C SNP GPC3 ENST00000394299 human ensembl 74_37 -1 known missense c.362 p.H121R 1.000 pfam_Glypican pfam_Glypican - no_errors GPC3 HGNC ENSG00000147257 68 0 0 26 30 53.5714 GPR112 0 genome.wustl.edu 37 X 135431510 135431510 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 135431510 135431510 C T SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known missense c.5645 p.S1882F 0.022 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 87 0 0 62 6 8.82353 ARHGEF6 0 genome.wustl.edu 37 X 135763009 135763009 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 135763009 135763009 G T SNP ARHGEF6 ENST00000250617 human ensembl 74_37 -1 known missense c.1585 p.H529N 0.993 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_SM22_calponin - no_errors ARHGEF6 HGNC ENSG00000129675 68 0 0 77 12 13.4831 MAGEC3 0 genome.wustl.edu 37 X 140953268 140953268 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 140953268 140953268 G T SNP MAGEC3 ENST00000298296 human ensembl 74_37 +1 known missense c.135 p.K45N 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 43 0 0 27 20 42.5532 IDS 0 genome.wustl.edu 37 X 148579680 148579680 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 148579680 148579680 G A SNP IDS ENST00000340855 human ensembl 74_37 -1 known silent c.666 p.A222 0.999 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors IDS HGNC ENSG00000010404 76 0 0 32 32 50 SRPK3 0 genome.wustl.edu 37 X 153050931 153050931 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 153050931 153050931 G A SNP SRPK3 ENST00000370101 human ensembl 74_37 +1 known missense c.1660 p.A554T 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors SRPK3 HGNC ENSG00000184343 88 0 0 61 52 46.0177 PDZD4 0 genome.wustl.edu 37 X 153073928 153073928 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 153073928 153073928 G A SNP PDZD4 ENST00000164640 human ensembl 74_37 -1 known silent c.183 p.S61 0.876 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD4 HGNC ENSG00000067840 27 0 0 18 14 43.75 HCFC1 0 genome.wustl.edu 37 X 153220508 153220508 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 153220508 153220508 C T SNP HCFC1 ENST00000310441 human ensembl 74_37 -1 known silent c.3342 p.T1114 0.662 NULL pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 22 0 0 12 16 57.1429 FLNA 0 genome.wustl.edu 37 X 153587361 153587361 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 153587361 153587361 C T SNP FLNA ENST00000369850 human ensembl 74_37 -1 known missense c.4465 p.G1489R 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 147 0 0 67 69 50.7353 AKAP17A 0 genome.wustl.edu 37 X 1712646 1712646 + Silent SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 1712646 1712646 C T SNP AKAP17A ENST00000313871 human ensembl 74_37 +1 known silent c.291 p.D97 1.000 NULL NULL - no_errors AKAP17A HGNC ENSG00000197976 340 1 0.293255 254 81 24.1791 DDX53 0 genome.wustl.edu 37 X 23018779 23018779 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 23018779 23018779 A G SNP DDX53 ENST00000327968 human ensembl 74_37 +1 known missense c.605 p.N202S 0.108 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,superfamily_P-loop_NTPase,smart_KH_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_KH_dom_type_1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX53 HGNC ENSG00000184735 80 0 0 32 20 38.4615 PRDX4 0 genome.wustl.edu 37 X 23685738 23685738 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 23685738 23685738 C A SNP PRDX4 ENST00000379341 human ensembl 74_37 +1 known missense c.51 p.H17Q 0.001 NULL pfam_AhpC/TSA,pfam_Peroxiredoxin_C,pfam_Redoxin,superfamily_Thioredoxin-like_fold - no_errors PRDX4 HGNC ENSG00000123131 12 0 0 0 3 100 DMD 0 genome.wustl.edu 37 X 32383293 32383293 + Silent SNP T T C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 32383293 32383293 T C SNP DMD ENST00000357033 human ensembl 74_37 -1 known silent c.4869 p.K1623 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 31 0 0 19 19 50 DMD 0 genome.wustl.edu 37 X 32481581 32481581 + Missense_Mutation SNP G G T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 32481581 32481581 G T SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.3407 p.T1136N 0.061 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 13 0 0 5 6 54.5455 GAGE1 0 genome.wustl.edu 37 X 49369669 49369669 + Missense_Mutation SNP C C A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 49369669 49369669 C A SNP GAGE1 ENST00000381709 human ensembl 74_37 +1 known missense c.400 p.L134I 0.007 NULL pfam_GAGE - no_errors GAGE1 HGNC ENSG00000205777 47 0 0 20 14 41.1765 AKAP4 0 genome.wustl.edu 37 X 49958701 49958701 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 49958701 49958701 G A SNP AKAP4 ENST00000358526 human ensembl 74_37 -1 known silent c.663 p.V221 1.000 pfam_RII_binding_1,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP4 HGNC ENSG00000147081 98 0 0 48 54 52.9412 AKAP4 0 genome.wustl.edu 37 X 49962241 49962241 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 49962241 49962241 C T SNP AKAP4 ENST00000358526 human ensembl 74_37 -1 known missense c.128 p.C43Y 1.000 smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP4 HGNC ENSG00000147081 24 0 0 4 11 73.3333 DGKK 0 genome.wustl.edu 37 X 50213598 50213598 + RNA SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 50213598 50213598 G A SNP DGKK ENST00000376025 human ensembl 74_37 -1 known rna NULL NULL 0.994 - - - no_errors DGKK HGNC ENSG00000204466 10 0 0 5 6 54.5455 SHROOM4 0 genome.wustl.edu 37 X 50378665 50378665 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 50378665 50378665 G A SNP SHROOM4 ENST00000289292 human ensembl 74_37 -1 known silent c.408 p.D136 1.000 NULL pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM4 HGNC ENSG00000158352 32 0 0 12 12 50 CXorf67 0 genome.wustl.edu 37 X 51150040 51150040 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 51150040 51150040 G A SNP CXorf67 ENST00000342995 human ensembl 74_37 +1 known missense c.172 p.A58T 0.000 NULL NULL - no_errors CXorf67 HGNC ENSG00000187690 13 0 0 13 10 43.4783 MAGED1 0 genome.wustl.edu 37 X 51638632 51638632 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 51638632 51638632 C T SNP MAGED1 ENST00000375695 human ensembl 74_37 +1 known missense c.697 p.P233S 0.202 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGED1 HGNC ENSG00000179222 28 0 0 15 8 34.7826 MAGED1 0 genome.wustl.edu 37 X 51641391 51641391 + Nonsense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 51641391 51641391 G A SNP MAGED1 ENST00000375695 human ensembl 74_37 +1 known nonsense c.1917 p.W639* 1.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGED1 HGNC ENSG00000179222 41 0 0 22 31 58.4906 SSX7 0 genome.wustl.edu 37 X 52677445 52677445 + Missense_Mutation SNP A A C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 52677445 52677445 A C SNP SSX7 ENST00000298181 human ensembl 74_37 -1 known missense c.332 p.I111S 0.035 NULL pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors SSX7 HGNC ENSG00000187754 189 0 0 94 93 49.7326 AMER1 0 genome.wustl.edu 37 X 63411525 63411525 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 63411525 63411525 A G SNP AMER1 ENST00000330258 human ensembl 74_37 -1 known missense c.1642 p.S548P 0.675 NULL pfam_Uncharacterised_FAM123 - no_errors AMER1 HGNC ENSG00000184675 44 0 0 46 5 9.80392 ZC3H12B 0 genome.wustl.edu 37 X 64708739 64708739 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 64708739 64708739 G A SNP ZC3H12B ENST00000338957 human ensembl 74_37 +1 known missense c.58 p.E20K 1.000 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12B HGNC ENSG00000102053 13 0 0 4 7 63.6364 HEPH 0 genome.wustl.edu 37 X 65428058 65428058 + Missense_Mutation SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 65428058 65428058 A G SNP HEPH ENST00000519389 human ensembl 74_37 +1 known missense c.2695 p.T899A 0.089 superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPH HGNC ENSG00000089472 48 0 0 17 19 52.7778 ATRX 0 genome.wustl.edu 37 X 76855269 76855269 + Silent SNP A A G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 76855269 76855269 A G SNP ATRX ENST00000373344 human ensembl 74_37 -1 known silent c.5718 p.S1906 1.000 superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 19 0 0 23 6 20.6897 PGK1 0 genome.wustl.edu 37 X 77359863 77359863 + Missense_Mutation SNP T T G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 77359863 77359863 T G SNP PGK1 ENST00000373316 human ensembl 74_37 +1 known missense c.26 p.L9R 1.000 pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase - no_errors PGK1 HGNC ENSG00000102144 35 0 0 13 13 50 RPS6KA6 0 genome.wustl.edu 37 X 83359598 83359598 + Missense_Mutation SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 83359598 83359598 C T SNP RPS6KA6 ENST00000262752 human ensembl 74_37 -1 known missense c.1523 p.R508H 0.935 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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom - no_errors RPS6KA6 HGNC ENSG00000072133 15 0 0 9 6 40 KLHL4 0 genome.wustl.edu 37 X 86888892 86888892 + Missense_Mutation SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 86888892 86888892 G A SNP KLHL4 ENST00000373114 human ensembl 74_37 +1 known missense c.1693 p.V565I 1.000 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL4 HGNC ENSG00000102271 32 0 0 17 14 45.1613 PCDH19 0 genome.wustl.edu 37 X 99663287 99663287 + Silent SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 99663287 99663287 G A SNP PCDH19 ENST00000373034 human ensembl 74_37 -1 known silent c.309 p.L103 0.002 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 86 0 0 84 7 7.69231 TNMD 0 genome.wustl.edu 37 X 99848868 99848868 + RNA SNP G G C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 99848868 99848868 G C SNP TNMD ENST00000485971 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors TNMD HGNC ENSG00000000005 39 0 0 22 21 48.8372 UTY 0 genome.wustl.edu 37 Y 15591322 15591322 + RNA SNP C C T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 Y 15591322 15591322 C T SNP UTY ENST00000474365 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors UTY HGNC ENSG00000183878 29 0 0 12 9 42.8571 RBMY2EP 0 genome.wustl.edu 37 Y 23557656 23557656 + RNA SNP G G A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 Y 23557656 23557656 G A SNP RBMY2EP ENST00000444169 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RBMY2EP HGNC ENSG00000223637 15 0 0 3 3 50 WDR47 0 genome.wustl.edu 37 1 109560141 109560141 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 109560141 109560141 T - DEL WDR47 ENST00000400794 human ensembl 74_37 -1 known frame_shift_del c.241 p.R81fs 1.000 smart_CTLH_C,pfscan_CTLH_C pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR47 HGNC ENSG00000085433 47 0 0 32 5 13.5135 CEPT1 0 genome.wustl.edu 37 1 111703836 111703836 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 111703836 111703836 T - DEL CEPT1 ENST00000357172 human ensembl 74_37 +1 known frame_shift_del c.547 p.C185fs 1.000 pfam_CDP-OH_P_trans,pirsf_CHOPT pfam_CDP-OH_P_trans,pirsf_CHOPT - no_errors CEPT1 HGNC ENSG00000134255 241 1 0.413223 152 36 19.1489 PHTF1 0 genome.wustl.edu 37 1 114248546 114248546 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 114248546 114248546 A - DEL PHTF1 ENST00000369604 human ensembl 74_37 -1 known frame_shift_del c.1637 p.F546fs 1.000 NULL pfam_TF_homeodomain_male - no_errors PHTF1 HGNC ENSG00000116793 50 0 0 34 11 24.4444 SYCP1 0 genome.wustl.edu 37 1 115469133 115469134 + Frame_Shift_Ins INS - - A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 115469133 115469134 - A INS SYCP1 ENST00000369518 human ensembl 74_37 +1 known frame_shift_ins c.1875_1876 p.G628fs 0.992:1.000 pfam_SCP-1 pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 15 0 0 20 2 9.09091 HORMAD1 0 genome.wustl.edu 37 1 150686529 150686529 + RNA DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 150686529 150686529 A - DEL HORMAD1 ENST00000476530 human ensembl 74_37 -1 known rna NULL NULL 0.036 - - - no_errors HORMAD1 HGNC ENSG00000143452 47 0 0 42 7 14.2857 PRUNE 0 genome.wustl.edu 37 1 151006351 151006351 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 151006351 151006351 A - DEL PRUNE ENST00000271620 human ensembl 74_37 +1 known frame_shift_del c.1003 p.N335fs 0.731 pfam_DHHA2 pfam_DHHA2,pfam_Pesterase_RecJ - no_errors PRUNE HGNC ENSG00000143363 271 1 0.367647 170 51 23.0769 ZNF687 0 genome.wustl.edu 37 1 151261079 151261079 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 151261079 151261079 C - DEL ZNF687 ENST00000324048 human ensembl 74_37 +1 known frame_shift_del c.2191 p.H733fs 0.430 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF687 HGNC ENSG00000143373 147 0 0 114 40 25.974 TCHH 0 genome.wustl.edu 37 1 152086556 152086556 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 152086556 152086556 T - DEL TCHH ENST00000368804 human ensembl 74_37 -1 known frame_shift_del c.1 p.M1fs 1.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 45 0 0 26 8 23.5294 LCE1D 0 genome.wustl.edu 37 1 152770558 152770558 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 152770558 152770558 G - DEL LCE1D ENST00000326233 human ensembl 74_37 +1 known frame_shift_del c.288 p.G98fs 0.000 NULL NULL - no_errors LCE1D HGNC ENSG00000172155 112 0 0 100 23 18.6992 SPRR2D 0 genome.wustl.edu 37 1 153012733 153012734 + Frame_Shift_Ins INS - - G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 153012733 153012734 - G INS SPRR2D ENST00000360379 human ensembl 74_37 -1 known frame_shift_ins c.90_89 p.K31fs 0.004:0.004 NULL NULL - no_errors SPRR2D HGNC ENSG00000163216 258 0 0 237 59 19.9324 DENND4B 0 genome.wustl.edu 37 1 153916829 153916829 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 153916829 153916829 G - DEL DENND4B ENST00000361217 human ensembl 74_37 -1 known frame_shift_del c.22 p.R8fs 1.000 pfscan_uDENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4B HGNC ENSG00000198837 26 0 0 19 5 20.8333 C1orf43 0 genome.wustl.edu 37 1 154185146 154185146 + RNA DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 154185146 154185146 T - DEL C1orf43 ENST00000493814 human ensembl 74_37 -1 known rna NULL NULL 0.025 - - - no_errors C1orf43 HGNC ENSG00000143612 38 0 0 20 9 31.0345 SHC1 0 genome.wustl.edu 37 1 154942911 154942911 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 154942911 154942911 G - DEL SHC1 ENST00000368445 human ensembl 74_37 -1 known frame_shift_del c.92 p.P31fs 1.000 NULL pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2 - no_errors SHC1 HGNC ENSG00000160691 95 0 0 58 22 27.5 TRIM46 0 genome.wustl.edu 37 1 155152179 155152179 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 155152179 155152179 C - DEL TRIM46 ENST00000334634 human ensembl 74_37 +1 known frame_shift_del c.1357 p.H455fs 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM46 HGNC ENSG00000163462 70 0 0 63 16 20.2532 FCRL3 0 genome.wustl.edu 37 1 157666960 157666960 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 157666960 157666960 T - DEL FCRL3 ENST00000492769 human ensembl 74_37 -1 known frame_shift_del c.814 p.R272fs 0.000 smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL3 HGNC ENSG00000160856 102 0 0 84 8 8.69565 AIM2 0 genome.wustl.edu 37 1 159032487 159032487 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 159032487 159032487 T - DEL AIM2 ENST00000368130 human ensembl 74_37 -1 known frame_shift_del c.1027 p.T343fs 0.001 NULL pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_NA-bd_OB-fold,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors AIM2 HGNC ENSG00000163568 44 0 0 42 15 26.3158 CD84 0 genome.wustl.edu 37 1 160520869 160520869 + RNA DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 160520869 160520869 T - DEL CD84 ENST00000466767 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CD84 HGNC ENSG00000066294 93 0 0 51 17 25 MPC2 0 genome.wustl.edu 37 1 167889284 167889284 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 167889284 167889284 A - DEL MPC2 ENST00000271373 human ensembl 74_37 -1 known frame_shift_del c.280 p.W94fs 1.000 pfam_MPC pfam_MPC - no_errors MPC2 HGNC ENSG00000143158 126 0 0 88 26 22.807 DCAF6 0 genome.wustl.edu 37 1 167962611 167962611 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 167962611 167962611 T - DEL DCAF6 ENST00000367840 human ensembl 74_37 +1 known frame_shift_del c.836 p.F280fs 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_IQ_motif_EF-hand-BS,pfscan_WD40_repeat_dom - no_errors DCAF6 HGNC ENSG00000143164 68 0 0 52 15 22.3881 KIFAP3 0 genome.wustl.edu 37 1 170001165 170001165 + RNA DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 170001165 170001165 A - DEL KIFAP3 ENST00000474292 human ensembl 74_37 -1 putative rna NULL NULL 0.049 - - - no_errors KIFAP3 HGNC ENSG00000075945 56 0 0 29 7 19.4444 RCC2 0 genome.wustl.edu 37 1 17735597 17735597 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 17735597 17735597 G - DEL RCC2 ENST00000375433 human ensembl 74_37 -1 known frame_shift_del c.1558 p.R520fs 1.000 NULL pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,prints_Reg_chr_condens,pfscan_Reg_chr_condens - no_errors RCC2 HGNC ENSG00000179051 180 0 0 143 30 17.341 SOAT1 0 genome.wustl.edu 37 1 179304653 179304653 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 179304653 179304653 T - DEL SOAT1 ENST00000367619 human ensembl 74_37 +1 known frame_shift_del c.190 p.F65fs 0.997 NULL pfam_MBOAT_fam - no_errors SOAT1 HGNC ENSG00000057252 52 0 0 29 7 19.4444 SHCBP1L 0 genome.wustl.edu 37 1 182869223 182869223 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 182869223 182869223 T - DEL SHCBP1L ENST00000367547 human ensembl 74_37 -1 known frame_shift_del c.1857 p.D620fs 1.000 superfamily_Pectin_lyase_fold/virulence superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1 - no_errors SHCBP1L HGNC ENSG00000157060 16 0 0 20 8 28.5714 IVNS1ABP 0 genome.wustl.edu 37 1 185270466 185270466 + RNA DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 185270466 185270466 T - DEL IVNS1ABP ENST00000494880 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors IVNS1ABP HGNC ENSG00000116679 39 0 0 16 6 27.2727 B3GALT2 0 genome.wustl.edu 37 1 193149709 193149709 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 193149709 193149709 A - DEL B3GALT2 ENST00000367434 human ensembl 74_37 -1 known frame_shift_del c.984 p.F328fs 0.966 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GALT2 HGNC ENSG00000162630 82 0 0 65 15 18.75 MRTO4 0 genome.wustl.edu 37 1 19583571 19583571 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 19583571 19583571 A - DEL MRTO4 ENST00000330263 human ensembl 74_37 +1 known frame_shift_del c.205 p.N70fs 1.000 pfam_Ribosomal_L10/acidic_P0 pfam_Ribosomal_L10/acidic_P0 - no_errors MRTO4 HGNC ENSG00000053372 406 0 0 286 76 20.9945 DDX59 0 genome.wustl.edu 37 1 200594042 200594042 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 200594042 200594042 T - DEL DDX59 ENST00000447706 human ensembl 74_37 -1 known frame_shift_del c.1730 p.N577fs 0.001 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Znf_HIT,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 DDX59 HGNC ENSG00000118197 52 0 0 45 8 15.0943 PPP1R12B 0 genome.wustl.edu 37 1 202407190 202407190 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 202407190 202407190 T - DEL PPP1R12B ENST00000480184 human ensembl 74_37 +1 novel frame_shift_del c.1496 p.F502fs 0.041 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PPP1R12B HGNC ENSG00000077157 54 0 0 34 9 20.9302 ENSG00000226862 0 genome.wustl.edu 37 1 202573399 202573400 + RNA INS - - C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 202573399 202573400 - C INS ENSG00000226862 ENST00000428573 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-569A11.1 Clone_based_vega_gene ENSG00000226862 24 0 0 19 8 29.6296 MAPKAPK2 0 genome.wustl.edu 37 1 206904644 206904645 + RNA INS - - GT TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 206904644 206904645 - GT INS MAPKAPK2 ENST00000479009 human ensembl 74_37 +1 putative rna NULL NULL 0.000:0.000 - - - no_errors MAPKAPK2 HGNC ENSG00000162889 36 0 0 24 7 22.5806 RCOR3 0 genome.wustl.edu 37 1 211452638 211452638 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 211452638 211452638 A - DEL RCOR3 ENST00000367005 human ensembl 74_37 +1 known frame_shift_del c.526 p.E178fs 1.000 NULL pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors RCOR3 HGNC ENSG00000117625 68 0 0 51 17 25 EIF4G3 0 genome.wustl.edu 37 1 21226332 21226332 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 21226332 21226332 T - DEL EIF4G3 ENST00000374937 human ensembl 74_37 -1 known frame_shift_del c.1707 p.V570fs 0.003 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G3 HGNC ENSG00000075151 279 1 0.357143 156 41 20.8122 USP48 0 genome.wustl.edu 37 1 22033386 22033388 + In_Frame_Del DEL AAA AAA - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 22033386 22033388 AAA - DEL USP48 ENST00000529637 human ensembl 74_37 -1 novel in_frame_del c.1975_1973 p.F658in_frame_del 0.000:0.000:0.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC ENSG00000090686 48 0 0 21 14 40 HSPG2 0 genome.wustl.edu 37 1 22199214 22199214 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 22199214 22199214 G - DEL HSPG2 ENST00000374695 human ensembl 74_37 -1 known frame_shift_del c.3928 p.H1310fs 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 24 0 0 15 5 25 ADCK3 0 genome.wustl.edu 37 1 227171736 227171736 + RNA DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 227171736 227171736 G - DEL ADCK3 ENST00000478406 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ADCK3 HGNC ENSG00000163050 20 0 0 4 11 73.3333 TAF5L 0 genome.wustl.edu 37 1 229730519 229730520 + Frame_Shift_Del DEL AC AC - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 229730519 229730520 AC - DEL TAF5L ENST00000258281 human ensembl 74_37 -1 known frame_shift_del c.1295_1294 p.V432fs 1.000:1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TAF5L HGNC ENSG00000135801 219 0 0 191 36 15.859 ZNF496 0 genome.wustl.edu 37 1 247492780 247492781 + Frame_Shift_Ins INS - - C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 247492780 247492781 - C INS ZNF496 ENST00000366498 human ensembl 74_37 -1 known frame_shift_ins c.101_100 p.E34fs 0.161:0.156 superfamily_Retrov_capsid_C pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF496 HGNC ENSG00000162714 106 0 0 97 23 19.1667 ARID1A 0 genome.wustl.edu 37 1 27107166 27107166 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 27107166 27107166 G - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.6777 p.D2260fs 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 162 0 0 108 20 15.625 WDTC1 0 genome.wustl.edu 37 1 27621108 27621108 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 27621108 27621108 G - DEL WDTC1 ENST00000319394 human ensembl 74_37 +1 known frame_shift_del c.861 p.E290fs 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDTC1 HGNC ENSG00000142784 45 0 0 34 7 17.0732 MAP3K6 0 genome.wustl.edu 37 1 27685239 27685239 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 27685239 27685239 G - DEL MAP3K6 ENST00000357582 human ensembl 74_37 -1 known frame_shift_del c.2544 p.F849fs 0.991 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,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K6 HGNC ENSG00000142733 99 0 0 75 24 24.2424 GMEB1 0 genome.wustl.edu 37 1 29041386 29041386 + RNA DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 29041386 29041386 A - DEL GMEB1 ENST00000480454 human ensembl 74_37 +1 known rna NULL NULL 0.252 - - - no_errors GMEB1 HGNC ENSG00000162419 11 0 0 6 5 45.4545 SYNC 0 genome.wustl.edu 37 1 33160673 33160675 + In_Frame_Del DEL CTC CTC - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 33160673 33160675 CTC - DEL SYNC ENST00000409190 human ensembl 74_37 -1 known in_frame_del c.1026_1024 p.E342in_frame_del 0.999:1.000:1.000 pfam_IF pfam_IF - no_errors SYNC HGNC ENSG00000162520 80 0 0 67 10 12.987 ZMYM4 0 genome.wustl.edu 37 1 35825031 35825031 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 35825031 35825031 T - DEL ZMYM4 ENST00000314607 human ensembl 74_37 +1 known frame_shift_del c.591 p.F199fs 1.000 NULL pfam_DUF3504,pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM4 HGNC ENSG00000146463 29 0 0 36 12 25 ENSG00000232335 0 genome.wustl.edu 37 1 36208989 36208989 + RNA DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 36208989 36208989 A - DEL ENSG00000232335 ENST00000373226 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-435D7.3 Clone_based_vega_gene ENSG00000232335 62 0 0 35 6 14.6341 AGO1 0 genome.wustl.edu 37 1 36354045 36354045 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 36354045 36354045 C - DEL AGO1 ENST00000373204 human ensembl 74_37 +1 known frame_shift_del c.43 p.L17fs 1.000 NULL pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO1 HGNC ENSG00000092847 108 0 0 106 29 21.4815 ENSG00000271554 0 genome.wustl.edu 37 1 36475027 36475027 + RNA DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 36475027 36475027 A - DEL ENSG00000271554 ENST00000479395 human ensembl 74_37 -1 known rna NULL NULL 0.011 - - - no_errors RP4-665N4.8 Clone_based_vega_gene ENSG00000271554 42 0 0 14 13 48.1481 TRIT1 0 genome.wustl.edu 37 1 40312897 40312897 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 40312897 40312897 A - DEL TRIT1 ENST00000316891 human ensembl 74_37 -1 known frame_shift_del c.1001 p.L334fs 1.000 NULL pfam_IPPT,pfam_Isopentenyl_transferase,pfam_Znf_C2H2_jaz,superfamily_P-loop_NTPase,smart_Znf_U1,tigrfam_tRNA_delta_PyrP_Trfase - no_errors TRIT1 HGNC ENSG00000043514 72 0 0 63 14 18.1818 PIK3R3 0 genome.wustl.edu 37 1 46521525 46521525 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 46521525 46521525 T - DEL PIK3R3 ENST00000540385 human ensembl 74_37 -1 known frame_shift_del c.1021 p.M341fs 1.000 prints_PI3kinase_P85 pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R3 HGNC ENSG00000117461 148 0 0 82 29 26.1261 LURAP1 0 genome.wustl.edu 37 1 46669262 46669263 + Frame_Shift_Ins INS - - G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 46669262 46669263 - G INS LURAP1 ENST00000371980 human ensembl 74_37 +1 known frame_shift_ins c.164_165 p.D57fs 1.000:0.998 NULL NULL - no_errors LURAP1 HGNC ENSG00000171357 41 0 0 48 17 26.1538 PODN 0 genome.wustl.edu 37 1 53543377 53543377 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 53543377 53543377 C - DEL PODN ENST00000312553 human ensembl 74_37 +1 known frame_shift_del c.903 p.P303fs 0.997 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp - no_errors PODN HGNC ENSG00000174348 258 0 0 228 56 19.7183 NFIA 0 genome.wustl.edu 37 1 61818150 61818150 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 61818150 61818150 T - DEL NFIA ENST00000371189 human ensembl 74_37 +1 known frame_shift_del c.864 p.S290fs 1.000 pfam_CTF/NFI pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIA HGNC ENSG00000162599 59 0 0 58 19 24.6753 RPL22 0 genome.wustl.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 6257785 6257785 T - DEL RPL22 ENST00000234875 human ensembl 74_37 -1 known frame_shift_del c.44 p.K15fs 1.000 pfam_Ribosomal_L22e pfam_Ribosomal_L22e - no_errors RPL22 HGNC ENSG00000116251 54 0 0 21 16 43.2432 EFCAB7 0 genome.wustl.edu 37 1 64036680 64036680 + RNA DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 64036680 64036680 T - DEL EFCAB7 ENST00000461039 human ensembl 74_37 +1 known rna NULL NULL 0.768 - - - no_errors EFCAB7 HGNC ENSG00000203965 34 0 0 26 13 33.3333 SGIP1 0 genome.wustl.edu 37 1 67099769 67099769 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 67099769 67099769 A - DEL SGIP1 ENST00000237247 human ensembl 74_37 +1 known frame_shift_del c.106 p.K38fs 0.997 NULL pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC ENSG00000118473 22 0 0 13 5 27.7778 TNFRSF9 0 genome.wustl.edu 37 1 7998254 7998254 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 7998254 7998254 T - DEL TNFRSF9 ENST00000377507 human ensembl 74_37 -1 known frame_shift_del c.345 p.G116fs 0.019 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_9 - no_errors TNFRSF9 HGNC ENSG00000049249 143 1 0.694444 114 24 17.3913 RERE 0 genome.wustl.edu 37 1 8420317 8420318 + Frame_Shift_Ins INS - - C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 8420317 8420318 - C INS RERE ENST00000337907 human ensembl 74_37 -1 known frame_shift_ins c.3250_3249 p.S1083fs 0.000:0.000 pfam_Atrophin-like pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC ENSG00000142599 14 0 0 10 3 23.0769 PRKACB 0 genome.wustl.edu 37 1 84644897 84644898 + Frame_Shift_Ins INS - - A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 84644897 84644898 - A INS PRKACB ENST00000370685 human ensembl 74_37 +1 known frame_shift_ins c.225_226 p.W77fs 1.000:1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKACB HGNC ENSG00000142875 26 0 0 35 6 14.6341 GBP7 0 genome.wustl.edu 37 1 89613321 89613322 + Frame_Shift_Ins INS - - C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 89613321 89613322 - C INS GBP7 ENST00000294671 human ensembl 74_37 -1 known frame_shift_ins c.1294_1293 p.H431fs 0.980:0.994 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP7 HGNC ENSG00000213512 170 0 0 112 36 24.3243 ZNF644 0 genome.wustl.edu 37 1 91382293 91382293 + RNA DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 1 91382293 91382293 A - DEL ZNF644 ENST00000467231 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ZNF644 HGNC ENSG00000122482 18 0 0 12 10 45.4545 NOLC1 0 genome.wustl.edu 37 10 103919299 103919299 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 103919299 103919299 A - DEL NOLC1 ENST00000405356 human ensembl 74_37 +1 known frame_shift_del c.863 p.K290fs 0.998 NULL pfam_SRP40_C,pfscan_LisH_dimerisation - no_errors NOLC1 HGNC ENSG00000166197 75 0 0 64 15 18.9873 PSD 0 genome.wustl.edu 37 10 104174958 104174959 + Frame_Shift_Ins INS - - G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 104174958 104174959 - G INS PSD ENST00000020673 human ensembl 74_37 -1 known frame_shift_ins c.786_785 p.S263fs 0.835:0.922 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD HGNC ENSG00000059915 82 0 0 59 14 19.1781 ADD3 0 genome.wustl.edu 37 10 111893350 111893350 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 111893350 111893350 A - DEL ADD3 ENST00000356080 human ensembl 74_37 +1 known frame_shift_del c.2095 p.K701fs 1.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD3 HGNC ENSG00000148700 94 0 0 53 33 38.3721 DCLRE1A 0 genome.wustl.edu 37 10 115608957 115608957 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 115608957 115608957 T - DEL DCLRE1A ENST00000361384 human ensembl 74_37 -1 known frame_shift_del c.1907 p.K636fs 1.000 NULL pfam_DRMBL - no_errors DCLRE1A HGNC ENSG00000198924 198 1 0.502513 138 37 21.1429 INPP5F 0 genome.wustl.edu 37 10 121556338 121556339 + Frame_Shift_Ins INS - - C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 121556338 121556339 - C INS INPP5F ENST00000361976 human ensembl 74_37 +1 known frame_shift_ins c.781_782 p.Q264fs 1.000:1.000 pfam_Syja_N,pfscan_Syja_N pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N - no_errors INPP5F HGNC ENSG00000198825 76 0 0 35 20 36.3636 WDR11 0 genome.wustl.edu 37 10 122665505 122665505 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 122665505 122665505 T - DEL WDR11 ENST00000263461 human ensembl 74_37 +1 known frame_shift_del c.3409 p.F1138fs 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR11 HGNC ENSG00000120008 126 0 0 77 19 19.7917 UROS 0 genome.wustl.edu 37 10 127483521 127483521 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 127483521 127483521 A - DEL UROS ENST00000368786 human ensembl 74_37 -1 known frame_shift_del c.588 p.F196fs 1.000 pfam_4pyrrol_synth_uPrphyn_synth,superfamily_4pyrrol_synth_uPrphyn_synth pfam_4pyrrol_synth_uPrphyn_synth,superfamily_4pyrrol_synth_uPrphyn_synth - no_errors UROS HGNC ENSG00000188690 103 0 0 55 18 24.6575 FRMD4A 0 genome.wustl.edu 37 10 13696452 13696452 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 13696452 13696452 G - DEL FRMD4A ENST00000357447 human ensembl 74_37 -1 known frame_shift_del c.3014 p.P1005fs 1.000 NULL pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4A HGNC ENSG00000151474 131 0 0 117 19 13.9706 DNAJC1 0 genome.wustl.edu 37 10 22208767 22208767 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 22208767 22208767 T - DEL DNAJC1 ENST00000376980 human ensembl 74_37 -1 known frame_shift_del c.629 p.N210fs 1.000 NULL pfam_DnaJ_domain,pfam_SANT/Myb,superfamily_DnaJ_domain,superfamily_Homeodomain-like,smart_DnaJ_domain,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC1 HGNC ENSG00000136770 96 0 0 71 22 23.6559 MYO3A 0 genome.wustl.edu 37 10 26417377 26417378 + Frame_Shift_Ins INS - - A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 26417377 26417378 - A INS MYO3A ENST00000265944 human ensembl 74_37 +1 known frame_shift_ins c.2172_2173 p.N726fs 1.000:1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 53 0 0 37 7 15.9091 PFKP 0 genome.wustl.edu 37 10 3172105 3172106 + Frame_Shift_Ins INS - - G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 3172105 3172106 - G INS PFKP ENST00000381125 human ensembl 74_37 +1 known frame_shift_ins c.1778_1779 p.L596fs 1.000:1.000 pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKP HGNC ENSG00000067057 137 0 0 117 22 15.8273 SLC16A9 0 genome.wustl.edu 37 10 61414180 61414180 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 61414180 61414180 T - DEL SLC16A9 ENST00000395347 human ensembl 74_37 -1 known frame_shift_del c.604 p.I202fs 0.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A9 HGNC ENSG00000165449 151 0 0 102 29 22.1374 HERC4 0 genome.wustl.edu 37 10 69716603 69716604 + RNA DEL AA AA - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 69716603 69716604 AA - DEL HERC4 ENST00000480158 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors HERC4 HGNC ENSG00000148634 39 0 0 21 13 38.2353 SLC25A16 0 genome.wustl.edu 37 10 70243182 70243182 + RNA DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 70243182 70243182 T - DEL SLC25A16 ENST00000265870 human ensembl 74_37 -1 known rna NULL NULL 0.272 - - - no_errors SLC25A16 HGNC ENSG00000122912 43 0 0 34 10 22.7273 H2AFY2 0 genome.wustl.edu 37 10 71851664 71851665 + Frame_Shift_Ins INS - - G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 71851664 71851665 - G INS H2AFY2 ENST00000373255 human ensembl 74_37 +1 known frame_shift_ins c.431_432 p.K147fs 1.000:1.000 pirsf_Core_histone_macro-H2A pfam_Macro_dom,pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,smart_Macro_dom,pirsf_Core_histone_macro-H2A,pfscan_Macro_dom,prints_Histone_H2A - no_errors H2AFY2 HGNC ENSG00000099284 69 0 0 71 13 15.4762 ZSWIM8 0 genome.wustl.edu 37 10 75558814 75558814 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 75558814 75558814 G - DEL ZSWIM8 ENST00000398706 human ensembl 74_37 +1 known frame_shift_del c.4231 p.G1412fs 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM8 HGNC ENSG00000214655 46 0 0 30 11 26.8293 SAMD8 0 genome.wustl.edu 37 10 76910361 76910362 + Frame_Shift_Ins INS - - T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 76910361 76910362 - T INS SAMD8 ENST00000372690 human ensembl 74_37 +1 known frame_shift_ins c.264_265 p.E90fs 0.926:1.000 pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD8 HGNC ENSG00000156671 133 0 0 88 21 19.2661 GATA3 0 genome.wustl.edu 37 10 8100728 8100728 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 8100728 8100728 C - DEL GATA3 ENST00000379328 human ensembl 74_37 +1 known frame_shift_del c.702 p.S237fs 1.000 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 108 0 0 83 18 17.8218 PTEN 0 genome.wustl.edu 37 10 89717770 89717770 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 89717770 89717770 A - DEL PTEN ENST00000371953 human ensembl 74_37 +1 known frame_shift_del c.795 p.K267fs 0.994 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 71 0 0 54 9 14.2857 KIF20B 0 genome.wustl.edu 37 10 91483748 91483748 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 91483748 91483748 A - DEL KIF20B ENST00000416354 human ensembl 74_37 +1 known frame_shift_del c.1750 p.K586fs 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20B HGNC ENSG00000138182 41 0 0 37 10 21.2766 HECTD2 0 genome.wustl.edu 37 10 93247481 93247481 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 93247481 93247481 A - DEL HECTD2 ENST00000446394 human ensembl 74_37 +1 known frame_shift_del c.1149 p.I386fs 1.000 NULL pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT - no_errors HECTD2 HGNC ENSG00000165338 99 0 0 72 16 18.1818 TNKS2 0 genome.wustl.edu 37 10 93601946 93601946 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 93601946 93601946 A - DEL TNKS2 ENST00000371627 human ensembl 74_37 +1 known frame_shift_del c.1857 p.N622fs 0.997 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS2 HGNC ENSG00000107854 62 0 0 39 11 22 NOC3L 0 genome.wustl.edu 37 10 96106233 96106233 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 96106233 96106233 T - DEL NOC3L ENST00000371350 human ensembl 74_37 -1 known frame_shift_del c.1338 p.K446fs 1.000 superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3 pfam_CCAAT-binding_factor,pfam_NOC3p,superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3 - no_errors NOC3L HGNC ENSG00000173145 30 0 0 37 8 17.7778 HELLS 0 genome.wustl.edu 37 10 96352051 96352051 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 96352051 96352051 A - DEL HELLS ENST00000371332 human ensembl 74_37 +1 known frame_shift_del c.1971 p.R660fs 0.958 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELLS HGNC ENSG00000119969 54 0 0 49 10 16.9492 TM9SF3 0 genome.wustl.edu 37 10 98336474 98336475 + Frame_Shift_Ins INS - - T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 10 98336474 98336475 - T INS TM9SF3 ENST00000371142 human ensembl 74_37 -1 known frame_shift_ins c.215_214 p.S72fs 1.000:1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF3 HGNC ENSG00000077147 122 1 0.813008 92 28 23.3333 MUC6 0 genome.wustl.edu 37 11 1016412 1016414 + In_Frame_Del DEL GAG GAG - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 1016412 1016414 GAG - DEL MUC6 ENST00000421673 human ensembl 74_37 -1 known in_frame_del c.6389_6387 p.S2130in_frame_del 0.002:0.002:0.018 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 49 0 0 30 15 33.3333 MMP10 0 genome.wustl.edu 37 11 102647034 102647035 + Frame_Shift_Ins INS - - C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 102647034 102647035 - C INS MMP10 ENST00000279441 human ensembl 74_37 -1 known frame_shift_ins c.909_908 p.E304fs 1.000:1.000 pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP10 HGNC ENSG00000166670 72 0 0 72 16 18.1818 GUCY1A2 0 genome.wustl.edu 37 11 106810877 106810878 + Frame_Shift_Ins INS - - T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 106810877 106810878 - T INS GUCY1A2 ENST00000282249 human ensembl 74_37 -1 known frame_shift_ins c.515_514 p.R172fs 1.000:1.000 pfam_Heme_NO-bd,superfamily_NO_sig/Golgi_transp_ligand-bd pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A2 HGNC ENSG00000152402 89 0 0 32 7 17.9487 RDX 0 genome.wustl.edu 37 11 110104136 110104137 + Frame_Shift_Ins INS - - G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 110104136 110104137 - G INS RDX ENST00000530749 human ensembl 74_37 -1 known frame_shift_ins c.1413_1412 p.P472fs 1.000:1.000 pirsf_ERM,pfam_ERM_C_dom,superfamily_Adenylate_cyclase-assoc_CAP_N pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain - no_errors RDX HGNC ENSG00000137710 154 0 0 115 26 18.4397 BACE1 0 genome.wustl.edu 37 11 117186405 117186405 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 117186405 117186405 C - DEL BACE1 ENST00000313005 human ensembl 74_37 -1 known frame_shift_del c.107 p.G36fs 0.622 NULL pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Pept_A1_BACE,prints_Pept_A1_BACE1,prints_Aspartic_peptidase - no_errors BACE1 HGNC ENSG00000186318 12 0 0 8 3 27.2727 CCDC153 0 genome.wustl.edu 37 11 119061042 119061043 + Frame_Shift_Ins INS - - G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 119061042 119061043 - G INS CCDC153 ENST00000415318 human ensembl 74_37 -1 known frame_shift_ins c.600_599 p.G201fs 1.000:1.000 NULL superfamily_t-SNARE - no_errors CCDC153 HGNC ENSG00000248712 195 0 0 184 27 12.7962 MFRP 0 genome.wustl.edu 37 11 119213688 119213688 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 119213688 119213688 G - DEL MFRP ENST00000449574 human ensembl 74_37 -1 known frame_shift_del c.1150 p.H384fs 0.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Frizzled_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Frizzled_dom,pfscan_CUB_dom,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors MFRP HGNC ENSG00000235718 29 0 0 22 8 26.6667 C11orf45 0 genome.wustl.edu 37 11 128772419 128772419 + RNA DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 128772419 128772419 G - DEL C11orf45 ENST00000530168 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors C11orf45 HGNC ENSG00000174370 11 0 0 11 6 35.2941 GLB1L2 0 genome.wustl.edu 37 11 134244962 134244962 + RNA DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 134244962 134244962 C - DEL GLB1L2 ENST00000529077 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GLB1L2 HGNC ENSG00000149328 37 0 0 32 11 25.5814 ATHL1 0 genome.wustl.edu 37 11 294680 294680 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 294680 294680 C - DEL ATHL1 ENST00000409548 human ensembl 74_37 +1 known frame_shift_del c.2145 p.L717fs 0.000 NULL pfam_Glyco_hydro_65_M,superfamily_6-hairpin_glycosidase-like - no_errors ATHL1 HGNC ENSG00000142102 399 0 0 301 85 22.0207 DCDC1 0 genome.wustl.edu 37 11 31128427 31128427 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 31128427 31128427 A - DEL DCDC1 ENST00000597505 human ensembl 74_37 -1 putative frame_shift_del c.1668 p.F556fs 0.124 NULL pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Doublecortin_dom,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin - no_errors DCDC1 HGNC ENSG00000170959 57 0 0 41 9 18 ART5 0 genome.wustl.edu 37 11 3660980 3660980 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 3660980 3660980 G - DEL ART5 ENST00000359918 human ensembl 74_37 -1 known frame_shift_del c.679 p.H227fs 0.988 pfam_ART,prints_ART pfam_ART,prints_ART - no_errors ART5 HGNC ENSG00000167311 211 0 0 153 11 6.70732 ARHGAP1 0 genome.wustl.edu 37 11 46702224 46702224 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 46702224 46702224 G - DEL ARHGAP1 ENST00000311956 human ensembl 74_37 -1 known frame_shift_del c.709 p.L237fs 0.993 superfamily_Rho_GTPase_activation_prot pfam_RhoGAP_dom,pfam_CRAL-TRIO_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_RhoGAP_dom,pfscan_CRAL-TRIO_dom,pfscan_RhoGAP_dom - no_errors ARHGAP1 HGNC ENSG00000175220 53 0 0 51 12 19.0476 OR51E2 0 genome.wustl.edu 37 11 4703475 4703475 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 4703475 4703475 A - DEL OR51E2 ENST00000396950 human ensembl 74_37 -1 known frame_shift_del c.467 p.F156fs 0.027 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51E2 HGNC ENSG00000167332 109 1 0.909091 88 27 23.4783 ACP2 0 genome.wustl.edu 37 11 47266669 47266671 + RNA DEL TAA TAA - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 TAA TAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 47266669 47266671 TAA - DEL ACP2 ENST00000524769 human ensembl 74_37 -1 putative rna NULL NULL 0.000:0.000:0.000 - - - no_errors ACP2 HGNC ENSG00000134575 9 0 0 6 6 50 AGBL2 0 genome.wustl.edu 37 11 47689210 47689211 + Frame_Shift_Ins INS - - T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 47689210 47689211 - T INS AGBL2 ENST00000357610 human ensembl 74_37 -1 known frame_shift_ins c.2259_2258 p.K754fs 1.000:1.000 NULL pfam_Peptidase_M14 - no_errors AGBL2 HGNC ENSG00000165923 62 0 0 49 8 14.0351 OR52J3 0 genome.wustl.edu 37 11 5068683 5068683 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 5068683 5068683 A - DEL OR52J3 ENST00000380370 human ensembl 74_37 +1 known frame_shift_del c.928 p.K311fs 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52J3 HGNC ENSG00000205495 51 0 0 35 9 20.4545 OR5M8 0 genome.wustl.edu 37 11 56258060 56258061 + Frame_Shift_Ins INS - - G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 56258060 56258061 - G INS OR5M8 ENST00000327216 human ensembl 74_37 -1 known frame_shift_ins c.787_786 p.S262fs 0.027:0.011 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 69 0 0 50 6 10.7143 OR56B1 0 genome.wustl.edu 37 11 5758618 5758619 + Frame_Shift_Ins INS - - C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 5758618 5758619 - C INS OR56B1 ENST00000317121 human ensembl 74_37 +1 known frame_shift_ins c.872_873 p.S294fs 0.986:0.242 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR56B1 HGNC ENSG00000181023 414 0 0 298 62 17.2222 ZFP91 0 genome.wustl.edu 37 11 58384785 58384787 + In_Frame_Del DEL AGA AGA - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 58384785 58384787 AGA - DEL ZFP91 ENST00000316059 human ensembl 74_37 +1 known in_frame_del c.1319_1321 p.K442in_frame_del 1.000:1.000:1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP91 HGNC ENSG00000186660 68 0 0 38 13 25.4902 DTX4 0 genome.wustl.edu 37 11 58949549 58949550 + Frame_Shift_Ins INS - - C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 58949549 58949550 - C INS DTX4 ENST00000227451 human ensembl 74_37 +1 known frame_shift_ins c.549_550 p.M185fs 0.069:0.270 NULL pfam_WWE-dom,pfam_Znf_C3HC4_RING-type,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX4 HGNC ENSG00000110042 79 0 0 57 20 25.974 PRPF19 0 genome.wustl.edu 37 11 60671329 60671330 + Frame_Shift_Del DEL AG AG - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 60671329 60671330 AG - DEL PRPF19 ENST00000227524 human ensembl 74_37 -1 known frame_shift_del c.24_23 p.S8fs 1.000:1.000 pfam_Ubox_domain,smart_Ubox_domain pfam_WD40_repeat,pfam_Pre-mRNA_splic_Prp19,pfam_Ubox_domain,superfamily_WD40_repeat_dom,smart_Ubox_domain,smart_WD40_repeat,pfscan_Ricin_B_lectin,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PRPF19 HGNC ENSG00000110107 125 0 0 92 16 14.8148 TMEM132A 0 genome.wustl.edu 37 11 60701069 60701069 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 60701069 60701069 G - DEL TMEM132A ENST00000005286 human ensembl 74_37 +1 known frame_shift_del c.1415 p.V474fs 0.000 NULL NULL - no_errors TMEM132A HGNC ENSG00000006118 36 0 0 41 9 18 ZBTB3 0 genome.wustl.edu 37 11 62519843 62519845 + In_Frame_Del DEL AGA AGA - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 62519843 62519845 AGA - DEL ZBTB3 ENST00000394807 human ensembl 74_37 -1 known in_frame_del c.1444_1442 p.F481in_frame_del 1.000:1.000:1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB3 HGNC ENSG00000185670 97 0 0 73 24 24.7423 VEGFB 0 genome.wustl.edu 37 11 64004663 64004663 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 64004663 64004663 A - DEL VEGFB ENST00000309422 human ensembl 74_37 +1 known frame_shift_del c.379 p.K129fs 1.000 pfscan_PDGF/VEGF_dom pfam_PDGF/VEGF_dom,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors VEGFB HGNC ENSG00000173511 134 1 0.740741 97 32 24.8062 SMPD1 0 genome.wustl.edu 37 11 6413286 6413286 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 6413286 6413286 C - DEL SMPD1 ENST00000342245 human ensembl 74_37 +1 known frame_shift_del c.991 p.F333fs 1.000 pfam_PEstase_dom,pirsf_Sphingomy_PDE pfam_PEstase_dom,superfamily_Saposin-like,smart_SaposinB,pirsf_Sphingomy_PDE,pfscan_SaposinB - no_errors SMPD1 HGNC ENSG00000166311 91 0 0 68 15 18.0723 SLC22A20 0 genome.wustl.edu 37 11 64981480 64981481 + RNA INS - - C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 64981480 64981481 - C INS SLC22A20 ENST00000525264 human ensembl 74_37 +1 known rna NULL NULL 0.964:0.963 - - - no_errors SLC22A20 HGNC ENSG00000197847 25 0 0 35 5 12.5 MALAT1 0 genome.wustl.edu 37 11 65268696 65268696 + RNA DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 65268696 65268696 T - DEL MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.048 - - - no_errors MALAT1 HGNC ENSG00000251562 45 0 0 20 6 23.0769 MALAT1 0 genome.wustl.edu 37 11 65273569 65273571 + RNA DEL AAA AAA - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 65273569 65273571 AAA - DEL MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.000:0.001 - - - no_errors MALAT1 HGNC ENSG00000251562 53 0 0 26 11 29.7297 YIF1A 0 genome.wustl.edu 37 11 66055105 66055105 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 66055105 66055105 G - DEL YIF1A ENST00000376901 human ensembl 74_37 -1 known frame_shift_del c.391 p.R131fs 0.484 pfam_Hrf1,pfam_Yip1 pfam_Hrf1,pfam_Yip1 - no_errors YIF1A HGNC ENSG00000174851 44 0 0 38 14 26.9231 CD248 0 genome.wustl.edu 37 11 66083958 66083958 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 66083958 66083958 T - DEL CD248 ENST00000311330 human ensembl 74_37 -1 known frame_shift_del c.541 p.T181fs 1.000 NULL pfam_C-type_lectin,pfam_EGF-like_Ca-bd_dom,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_C-type_lectin - no_errors CD248 HGNC ENSG00000174807 50 0 0 33 8 19.5122 C11orf80 0 genome.wustl.edu 37 11 66605851 66605851 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 66605851 66605851 A - DEL C11orf80 ENST00000360962 human ensembl 74_37 +1 known frame_shift_del c.1682 p.K563fs 0.458 NULL NULL - no_errors C11orf80 HGNC ENSG00000173715 59 0 0 57 8 12.3077 PPP1CA 0 genome.wustl.edu 37 11 67165933 67165933 + RNA DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 67165933 67165933 C - DEL PPP1CA ENST00000532446 human ensembl 74_37 -1 known rna NULL NULL 0.080 - - - no_errors PPP1CA HGNC ENSG00000172531 32 0 0 17 5 22.7273 TBC1D10C 0 genome.wustl.edu 37 11 67176565 67176565 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 67176565 67176565 C - DEL TBC1D10C ENST00000312390 human ensembl 74_37 +1 known frame_shift_del c.954 p.A321fs 0.756 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D10C HGNC ENSG00000175463 24 0 0 13 3 18.75 PDDC1 0 genome.wustl.edu 37 11 770874 770874 + RNA DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 770874 770874 G - DEL PDDC1 ENST00000529966 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors PDDC1 HGNC ENSG00000177225 144 0 0 115 14 10.8527 NDUFC2 0 genome.wustl.edu 37 11 77784147 77784147 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 77784147 77784147 A - DEL NDUFC2 ENST00000281031 human ensembl 74_37 -1 known frame_shift_del c.207 p.F69fs 0.809 pfam_NADH-UbQ_OxRdtase_b14.5b_su,pirsf_NADH-UbQ_OxRdtase_b14.5b_su pfam_NADH-UbQ_OxRdtase_b14.5b_su,pirsf_NADH-UbQ_OxRdtase_b14.5b_su - no_errors NDUFC2 HGNC ENSG00000151366 88 0 0 74 24 24.4898 RAB30 0 genome.wustl.edu 37 11 82705151 82705151 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 82705151 82705151 G - DEL RAB30 ENST00000260056 human ensembl 74_37 -1 known frame_shift_del c.107 p.P36fs 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB30 HGNC ENSG00000137502 85 0 0 79 12 13.1868 TYR 0 genome.wustl.edu 37 11 88911521 88911521 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 88911521 88911521 T - DEL TYR ENST00000263321 human ensembl 74_37 +1 known frame_shift_del c.400 p.F135fs 1.000 superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYR HGNC ENSG00000077498 190 0 0 143 38 20.9945 SCUBE2 0 genome.wustl.edu 37 11 9051501 9051502 + Frame_Shift_Ins INS - - T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 9051501 9051502 - T INS SCUBE2 ENST00000457346 human ensembl 74_37 -1 known frame_shift_ins c.2433_2432 p.N811fs 0.985:1.000 pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_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 157 0 0 94 32 25.3968 KDM4D 0 genome.wustl.edu 37 11 94730807 94730807 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 11 94730807 94730807 A - DEL KDM4D ENST00000335080 human ensembl 74_37 +1 known frame_shift_del c.271 p.K93fs 0.600 NULL pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4D HGNC ENSG00000186280 122 1 0.813008 98 31 24.031 UTP20 0 genome.wustl.edu 37 12 101764288 101764290 + In_Frame_Del DEL GAG GAG - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 101764288 101764290 GAG - DEL UTP20 ENST00000261637 human ensembl 74_37 +1 known in_frame_del c.6634_6636 p.E2213in_frame_del 1.000:1.000:1.000 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 198 0 0 174 14 7.44681 C12orf42 0 genome.wustl.edu 37 12 103695959 103695960 + Frame_Shift_Ins INS - - G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 103695959 103695960 - G INS C12orf42 ENST00000378113 human ensembl 74_37 -1 known frame_shift_ins c.1010_1009 p.R337fs 0.034:0.030 NULL NULL - no_errors C12orf42 HGNC ENSG00000179088 129 0 0 143 13 8.33333 TAS2R42 0 genome.wustl.edu 37 12 11338799 11338799 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 11338799 11338799 A - DEL TAS2R42 ENST00000334266 human ensembl 74_37 -1 known frame_shift_del c.745 p.S249fs 0.015 pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors TAS2R42 HGNC ENSG00000186136 84 0 0 44 14 24.1379 DDX54 0 genome.wustl.edu 37 12 113600936 113600936 + Splice_Site DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 113600936 113600936 C - DEL DDX54 ENST00000314045 human ensembl 74_37 -1 known splice_site_del c.2081+1 e16+1 1.000 - - - no_errors DDX54 HGNC ENSG00000123064 70 0 0 57 21 26.9231 FBXO21 0 genome.wustl.edu 37 12 117624320 117624320 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 117624320 117624320 A - DEL FBXO21 ENST00000330622 human ensembl 74_37 -1 known frame_shift_del c.432 p.F144fs 1.000 superfamily_F-box_dom pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,superfamily_F-box_dom,tigrfam_Hemimethylated_DNA-bd_dom - no_errors FBXO21 HGNC ENSG00000135108 68 0 0 56 18 24.3243 NOS1 0 genome.wustl.edu 37 12 117703230 117703230 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 117703230 117703230 C - DEL NOS1 ENST00000317775 human ensembl 74_37 -1 known frame_shift_del c.2027 p.G676fs 1.000 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 28 0 0 29 2 6.45161 PRKAB1 0 genome.wustl.edu 37 12 120110201 120110201 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 120110201 120110201 G - DEL PRKAB1 ENST00000229328 human ensembl 74_37 +1 known frame_shift_del c.255 p.G87fs 0.166 superfamily_Ig_E-set pfam_AMP_prot_kin_bsu_interact-dom,superfamily_Ig_E-set - no_errors PRKAB1 HGNC ENSG00000111725 267 0 0 191 36 15.859 KNTC1 0 genome.wustl.edu 37 12 123078802 123078802 + RNA DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 123078802 123078802 T - DEL KNTC1 ENST00000545065 human ensembl 74_37 +1 known rna NULL NULL 0.044 - - - no_errors KNTC1 HGNC ENSG00000184445 26 0 0 19 7 26.9231 RPL22P19 0 genome.wustl.edu 37 12 125420367 125420367 + RNA DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 125420367 125420367 T - DEL RPL22P19 ENST00000480427 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RPL22P19 HGNC ENSG00000241129 10 0 0 7 5 41.6667 DHX37 0 genome.wustl.edu 37 12 125465270 125465272 + In_Frame_Del DEL CTC CTC - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 125465270 125465272 CTC - DEL DHX37 ENST00000308736 human ensembl 74_37 -1 known in_frame_del c.504_502 p.E168in_frame_del 0.904:0.904:0.905 NULL pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX37 HGNC ENSG00000150990 10 0 0 8 3 27.2727 GUCY2C 0 genome.wustl.edu 37 12 14796510 14796510 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 14796510 14796510 T - DEL GUCY2C ENST00000261170 human ensembl 74_37 -1 known frame_shift_del c.1928 p.K643fs 0.998 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_A/G_cyclase,superfamily_Peripla_BP_I,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors GUCY2C HGNC ENSG00000070019 140 0 0 86 23 21.1009 PLEKHA5 0 genome.wustl.edu 37 12 19427544 19427545 + Frame_Shift_Ins INS - - A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 19427544 19427545 - A INS PLEKHA5 ENST00000317589 human ensembl 74_37 +1 known frame_shift_ins c.922_923 p.N310fs 1.000:1.000 NULL pfam_Pleckstrin_homology,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA5 HGNC ENSG00000052126 40 0 0 29 11 27.5 PLEKHA5 0 genome.wustl.edu 37 12 19460408 19460408 + RNA DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 19460408 19460408 A - DEL PLEKHA5 ENST00000510738 human ensembl 74_37 +1 known rna NULL NULL 0.931 - - - no_errors PLEKHA5 HGNC ENSG00000052126 28 0 0 19 10 34.4828 GOLT1B 0 genome.wustl.edu 37 12 21661406 21661406 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 21661406 21661406 T - DEL GOLT1B ENST00000229314 human ensembl 74_37 +1 known frame_shift_del c.207 p.L72fs 0.588 pfam_Vesicle_transpt_Got1/SFT2 pfam_Vesicle_transpt_Got1/SFT2 - no_errors GOLT1B HGNC ENSG00000111711 40 0 0 31 8 20.5128 LINC00477 0 genome.wustl.edu 37 12 24736562 24736562 + RNA DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 24736562 24736562 A - DEL LINC00477 ENST00000483544 human ensembl 74_37 -1 known rna NULL NULL 0.301 - - - no_errors LINC00477 HGNC ENSG00000197503 143 1 0.694444 79 22 21.7822 LRRK2 0 genome.wustl.edu 37 12 40760868 40760868 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 40760868 40760868 A - DEL LRRK2 ENST00000298910 human ensembl 74_37 +1 known frame_shift_del c.7451 p.K2485fs 0.013 superfamily_WD40_repeat_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 42 0 0 36 6 14.2857 ZCRB1 0 genome.wustl.edu 37 12 42706971 42706971 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 42706971 42706971 T - DEL ZCRB1 ENST00000266529 human ensembl 74_37 -1 known frame_shift_del c.552 p.K184fs 0.732 NULL pfam_RRM_dom,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_RRM_dom_euk,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom - no_errors ZCRB1 HGNC ENSG00000139168 43 0 0 27 6 18.1818 KMT2D 0 genome.wustl.edu 37 12 49438221 49438222 + Frame_Shift_Del DEL TC TC - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 49438221 49438222 TC - DEL KMT2D ENST00000301067 human ensembl 74_37 -1 known frame_shift_del c.5048_5047 p.E1683fs 1.000:0.999 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 147 0 0 105 31 22.7941 KCNH3 0 genome.wustl.edu 37 12 49948320 49948320 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 49948320 49948320 G - DEL KCNH3 ENST00000257981 human ensembl 74_37 +1 known frame_shift_del c.2119 p.G708fs 1.000 NULL pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH3 HGNC ENSG00000135519 86 0 0 88 15 14.5631 ENSG00000257808 0 genome.wustl.edu 37 12 53553882 53553882 + RNA DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 53553882 53553882 C - DEL ENSG00000257808 ENST00000550908 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-1136G11.8 Clone_based_vega_gene ENSG00000257808 72 0 0 84 15 15.1515 OR6C75 0 genome.wustl.edu 37 12 55759192 55759192 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 55759192 55759192 T - DEL OR6C75 ENST00000343399 human ensembl 74_37 +1 known frame_shift_del c.298 p.F102fs 0.964 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C75 HGNC ENSG00000187857 147 0 0 88 26 22.807 ITGA7 0 genome.wustl.edu 37 12 56092301 56092301 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 56092301 56092301 C - DEL ITGA7 ENST00000555728 human ensembl 74_37 -1 known frame_shift_del c.1190 p.G397fs 1.000 pfam_FG-GAP,smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA7 HGNC ENSG00000135424 170 0 0 124 28 18.4211 PA2G4 0 genome.wustl.edu 37 12 56505301 56505302 + Frame_Shift_Ins INS - - A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 56505301 56505302 - A INS PA2G4 ENST00000303305 human ensembl 74_37 +1 known frame_shift_ins c.1107_1108 p.K372fs 1.000:1.000 tigrfam_Pap_1 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pap_1 - no_errors PA2G4 HGNC ENSG00000170515 155 0 0 105 29 21.6418 IL23A 0 genome.wustl.edu 37 12 56732898 56732898 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 56732898 56732898 G - DEL IL23A ENST00000228534 human ensembl 74_37 +1 known frame_shift_del c.70 p.G25fs 0.004 superfamily_4_helix_cytokine-like_core pfam_IL-6/IL-23/GCSF/MGF,superfamily_4_helix_cytokine-like_core - no_errors IL23A HGNC ENSG00000110944 54 0 0 54 18 25 MBD6 0 genome.wustl.edu 37 12 57919556 57919556 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 57919556 57919556 C - DEL MBD6 ENST00000355673 human ensembl 74_37 +1 known frame_shift_del c.805 p.P270fs 0.991 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 318 0 0 287 53 15.5882 AVPR1A 0 genome.wustl.edu 37 12 63541343 63541343 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 63541343 63541343 A - DEL AVPR1A ENST00000299178 human ensembl 74_37 -1 known frame_shift_del c.1053 p.F351fs 0.998 pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_DUF1856,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_V1A_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors AVPR1A HGNC ENSG00000166148 132 0 0 88 28 24.1379 TMBIM4 0 genome.wustl.edu 37 12 66547156 66547156 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 66547156 66547156 A - DEL TMBIM4 ENST00000358230 human ensembl 74_37 -1 known frame_shift_del c.170 p.L57fs 0.995 pfam_Bax_inhibitor_1-related pfam_Bax_inhibitor_1-related - no_errors TMBIM4 HGNC ENSG00000155957 56 0 0 52 16 23.5294 CHD4 0 genome.wustl.edu 37 12 6692339 6692339 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 6692339 6692339 G - DEL CHD4 ENST00000309577 human ensembl 74_37 -1 known frame_shift_del c.4085 p.P1362fs 0.999 NULL pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 183 0 0 143 38 20.9945 CNOT2 0 genome.wustl.edu 37 12 70747694 70747704 + Frame_Shift_Del DEL AAAAAAAAAAA AAAAAAAAAAA - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 AAAAAAAAAAA AAAAAAAAAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 70747694 70747704 AAAAAAAAAAA - DEL CNOT2 ENST00000229195 human ensembl 74_37 +1 known frame_shift_del c.1622_1623 p.*541fs 0.996:0.996 NULL pfam_NOT - no_errors CNOT2 HGNC ENSG00000111596 52 0 0 41 10 19.6078 CLEC4A 0 genome.wustl.edu 37 12 8281937 8281937 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 8281937 8281937 A - DEL CLEC4A ENST00000229332 human ensembl 74_37 +1 known frame_shift_del c.277 p.N95fs 0.289 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC4A HGNC ENSG00000111729 35 0 0 21 3 12.5 CEP290 0 genome.wustl.edu 37 12 88524079 88524079 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 88524079 88524079 T - DEL CEP290 ENST00000309041 human ensembl 74_37 -1 known frame_shift_del c.635 p.N212fs 1.000 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 107 0 0 96 34 26.1538 NR2C1 0 genome.wustl.edu 37 12 95442883 95442883 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 12 95442883 95442883 T - DEL NR2C1 ENST00000333003 human ensembl 74_37 -1 known frame_shift_del c.1092 p.E365fs 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR2C1 HGNC ENSG00000120798 135 0 0 91 26 22.2222 MYO16 0 genome.wustl.edu 37 13 109661386 109661386 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 13 109661386 109661386 T - DEL MYO16 ENST00000356711 human ensembl 74_37 +1 known frame_shift_del c.2518 p.F842fs 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 79 0 0 53 13 19.697 GAS6 0 genome.wustl.edu 37 13 114523858 114523858 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 13 114523858 114523858 G - DEL GAS6 ENST00000357389 human ensembl 74_37 -1 known frame_shift_del c.2145 p.V716fs 0.008 superfamily_ConA-like_lec_gl_sf pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors GAS6 HGNC ENSG00000183087 54 0 0 53 12 18.4615 ZMYM2 0 genome.wustl.edu 37 13 20635264 20635264 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 13 20635264 20635264 A - DEL ZMYM2 ENST00000382869 human ensembl 74_37 +1 known frame_shift_del c.2811 p.S939fs 0.877 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM2 HGNC ENSG00000121741 23 0 0 12 6 33.3333 SACS 0 genome.wustl.edu 37 13 23915417 23915417 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 13 23915417 23915417 T - DEL SACS ENST00000382292 human ensembl 74_37 -1 known frame_shift_del c.2598 p.K866fs 0.967 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 73 0 0 54 22 28.9474 SLC46A3 0 genome.wustl.edu 37 13 29278265 29278265 + RNA DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 13 29278265 29278265 A - DEL SLC46A3 ENST00000475385 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SLC46A3 HGNC ENSG00000139508 34 0 0 18 13 41.9355 MEDAG 0 genome.wustl.edu 37 13 31480852 31480852 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 13 31480852 31480852 G - DEL MEDAG ENST00000380482 human ensembl 74_37 +1 known frame_shift_del c.200 p.G69fs 0.590 NULL NULL - no_errors MEDAG HGNC ENSG00000102802 14 0 0 12 10 45.4545 LACC1 0 genome.wustl.edu 37 13 44455171 44455171 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 13 44455171 44455171 A - DEL LACC1 ENST00000325686 human ensembl 74_37 +1 known frame_shift_del c.50 p.N19fs 0.352 NULL pfam_Cu_polyphenol_OxRdtase_Laccase,superfamily_Cytotoxic_necrot_fac-like_cat - no_errors LACC1 HGNC ENSG00000179630 45 0 0 44 9 16.9811 SETDB2 0 genome.wustl.edu 37 13 50026037 50026037 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 13 50026037 50026037 A - DEL SETDB2 ENST00000317257 human ensembl 74_37 +1 known frame_shift_del c.8 p.N5fs 1.000 NULL pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom - no_errors SETDB2 HGNC ENSG00000136169 28 0 0 16 5 23.8095 SETDB2 0 genome.wustl.edu 37 13 50062719 50062719 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 13 50062719 50062719 T - DEL SETDB2 ENST00000317257 human ensembl 74_37 +1 known frame_shift_del c.1906 p.L637fs 0.810 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom - no_errors SETDB2 HGNC ENSG00000136169 71 0 0 78 7 8.23529 EBPL 0 genome.wustl.edu 37 13 50235209 50235209 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 13 50235209 50235209 A - DEL EBPL ENST00000242827 human ensembl 74_37 -1 known frame_shift_del c.516 p.F172fs 0.997 pfam_EBP pfam_EBP - no_errors EBPL HGNC ENSG00000123179 72 0 0 46 17 26.9841 VPS36 0 genome.wustl.edu 37 13 53000038 53000038 + RNA DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 13 53000038 53000038 A - DEL VPS36 ENST00000492650 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors VPS36 HGNC ENSG00000136100 64 0 0 51 13 20.3125 DIAPH3 0 genome.wustl.edu 37 13 60582719 60582719 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 13 60582719 60582719 A - DEL DIAPH3 ENST00000400324 human ensembl 74_37 -1 known frame_shift_del c.973 p.C325fs 0.956 pfam_FH3_dom,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DIAPH3 HGNC ENSG00000139734 101 0 0 75 22 22.6804 PCDH20 0 genome.wustl.edu 37 13 61987885 61987885 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 13 61987885 61987885 G - DEL PCDH20 ENST00000409186 human ensembl 74_37 -1 known frame_shift_del c.347 p.P116fs 0.967 pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 51 0 0 38 5 11.6279 LMO7 0 genome.wustl.edu 37 13 76432165 76432166 + RNA INS - - T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 13 76432165 76432166 - T INS LMO7 ENST00000605961 human ensembl 74_37 +1 known rna NULL NULL 0.575:0.573 - - - no_errors LMO7 HGNC ENSG00000136153 32 0 0 23 4 14.8148 PLD4 0 genome.wustl.edu 37 14 105397162 105397162 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 105397162 105397162 G - DEL PLD4 ENST00000392593 human ensembl 74_37 +1 known frame_shift_del c.801 p.V269fs 1.000 NULL pfam_PLipase_D/transphosphatidylase,smart_PLipase_D/transphosphatidylase,pfscan_PLipase_D/transphosphatidylase - no_errors PLD4 HGNC ENSG00000166428 220 0 0 146 35 19.337 OR4M1 0 genome.wustl.edu 37 14 20248931 20248931 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 20248931 20248931 G - DEL OR4M1 ENST00000315957 human ensembl 74_37 +1 known frame_shift_del c.450 p.G152fs 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4M1 HGNC ENSG00000176299 447 0 0 306 55 15.2355 ARHGEF40 0 genome.wustl.edu 37 14 21546604 21546604 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 21546604 21546604 G - DEL ARHGEF40 ENST00000298694 human ensembl 74_37 +1 known frame_shift_del c.2203 p.A737fs 0.899 NULL pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF40 HGNC ENSG00000165801 141 0 0 137 27 16.4634 HOMEZ 0 genome.wustl.edu 37 14 23745310 23745310 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 23745310 23745310 A - DEL HOMEZ ENST00000431326 human ensembl 74_37 -1 known frame_shift_del c.1133 p.L378fs 1.000 superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HOMEZ HGNC ENSG00000215271 60 0 0 43 13 23.2143 MYH7 0 genome.wustl.edu 37 14 23894116 23894118 + In_Frame_Del DEL CTT CTT - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 23894116 23894118 CTT - DEL MYH7 ENST00000355349 human ensembl 74_37 -1 known in_frame_del c.2541_2539 p.K847in_frame_del 1.000:1.000:1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 137 0 0 126 34 21.25 RNF31 0 genome.wustl.edu 37 14 24619939 24619940 + Frame_Shift_Ins INS - - C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 24619939 24619940 - C INS RNF31 ENST00000324103 human ensembl 74_37 +1 known frame_shift_ins c.1330_1331 p.R446fs 0.000:0.002 NULL pfam_PUB_domain,pfam_Znf_C6HC,superfamily_UBA-like,superfamily_DEATH-like_dom,superfamily_Znf_FYVE_PHD,smart_Znf_RanBP2,smart_Znf_C6HC,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RanBP2 - no_errors RNF31 HGNC ENSG00000092098 209 2 0.947867 157 33 17.3684 FOXG1 0 genome.wustl.edu 37 14 29237890 29237890 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 29237890 29237890 G - DEL FOXG1 ENST00000313071 human ensembl 74_37 +1 known frame_shift_del c.1405 p.G470fs 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXG1 HGNC ENSG00000176165 121 0 0 100 15 13.0435 FANCM 0 genome.wustl.edu 37 14 45642287 45642288 + Frame_Shift_Ins INS - - CT TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 45642287 45642288 - CT INS FANCM ENST00000267430 human ensembl 74_37 +1 known frame_shift_ins c.2190_2191 p.S734fs 0.714:0.999 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 71 0 0 59 12 16.9014 FERMT2 0 genome.wustl.edu 37 14 53360082 53360082 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 53360082 53360082 T - DEL FERMT2 ENST00000343279 human ensembl 74_37 -1 known frame_shift_del c.455 p.K152fs 1.000 pfam_FERM_N,smart_Band_41_domain pfam_FERM_central,pfam_Pleckstrin_homology,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT2 HGNC ENSG00000073712 118 0 0 64 13 16.8831 ARID4A 0 genome.wustl.edu 37 14 58814451 58814451 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 58814451 58814451 A - DEL ARID4A ENST00000355431 human ensembl 74_37 +1 known frame_shift_del c.1259 p.D423fs 0.935 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4A HGNC ENSG00000032219 68 0 0 48 10 17.2414 SRSF5 0 genome.wustl.edu 37 14 70238205 70238205 + RNA DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 70238205 70238205 T - DEL SRSF5 ENST00000556587 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SRSF5 HGNC ENSG00000100650 109 1 0.909091 91 21 18.75 MLH3 0 genome.wustl.edu 37 14 75514604 75514604 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 75514604 75514604 T - DEL MLH3 ENST00000355774 human ensembl 74_37 -1 known frame_shift_del c.1755 p.E586fs 0.092 NULL pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_dom,smart_MutL_C - no_errors MLH3 HGNC ENSG00000119684 98 0 0 37 32 46.3768 EML5 0 genome.wustl.edu 37 14 89154769 89154769 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 89154769 89154769 T - DEL EML5 ENST00000554922 human ensembl 74_37 -1 known frame_shift_del c.2588 p.N863fs 0.034 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML5 HGNC ENSG00000165521 268 0 0 182 48 20.8696 KCNK13 0 genome.wustl.edu 37 14 90651284 90651285 + Frame_Shift_Ins INS - - G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 90651284 90651285 - G INS KCNK13 ENST00000282146 human ensembl 74_37 +1 known frame_shift_ins c.1164_1165 p.V390fs 0.587:1.000 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_THIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK13 HGNC ENSG00000152315 55 0 0 46 10 17.8571 COX8C 0 genome.wustl.edu 37 14 93814398 93814398 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 14 93814398 93814398 T - DEL COX8C ENST00000342144 human ensembl 74_37 +1 known frame_shift_del c.151 p.F52fs 0.000 pfam_Cyt_c_oxidase_su8,superfamily_Cyt_c_oxidase_su8 pfam_Cyt_c_oxidase_su8,superfamily_Cyt_c_oxidase_su8 - no_errors COX8C HGNC ENSG00000187581 70 0 0 53 14 20.8955 ADAMTS17 0 genome.wustl.edu 37 15 100794386 100794387 + Splice_Site INS - - A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 100794386 100794387 - A INS ADAMTS17 ENST00000268070 human ensembl 74_37 -1 known splice_site_ins c.1032-3_1032-2 e7-2 1.000:0.971 - - - no_errors ADAMTS17 HGNC ENSG00000140470 47 0 0 30 4 11.7647 OR4M2 0 genome.wustl.edu 37 15 22369024 22369024 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 22369024 22369024 G - DEL OR4M2 ENST00000332663 human ensembl 74_37 +1 putative frame_shift_del c.449 p.G152fs 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4M2 HGNC ENSG00000182974 363 0 0 273 48 14.9533 HERC2 0 genome.wustl.edu 37 15 28483908 28483908 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 28483908 28483908 A - DEL HERC2 ENST00000261609 human ensembl 74_37 -1 known frame_shift_del c.3588 p.F1196fs 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 59 0 0 42 9 17.6471 RYR3 0 genome.wustl.edu 37 15 33872197 33872197 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 33872197 33872197 C - DEL RYR3 ENST00000389232 human ensembl 74_37 +1 known frame_shift_del c.1289 p.I432fs 0.989 NULL pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 72 0 0 52 18 25.7143 SLC12A6 0 genome.wustl.edu 37 15 34544456 34544457 + Frame_Shift_Ins INS - - A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 34544456 34544457 - A INS SLC12A6 ENST00000558589 human ensembl 74_37 -1 known frame_shift_ins c.1221_1220 p.N408fs 1.000:1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A6 HGNC ENSG00000140199 61 0 0 35 8 18.6047 C15orf52 0 genome.wustl.edu 37 15 40631781 40631782 + Frame_Shift_Ins INS - - C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 40631781 40631782 - C INS C15orf52 ENST00000559313 human ensembl 74_37 -1 known frame_shift_ins c.295_294 p.M98fs 0.992:0.991 NULL NULL - no_errors C15orf52 HGNC ENSG00000188549 159 0 0 109 33 23.2394 ADAL 0 genome.wustl.edu 37 15 43641114 43641115 + Frame_Shift_Ins INS - - A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 43641114 43641115 - A INS ADAL ENST00000422466 human ensembl 74_37 +1 known frame_shift_ins c.643_644 p.E218fs 0.942:0.853 pfam_A/AMP_deaminase_dom pfam_A/AMP_deaminase_dom - no_errors ADAL HGNC ENSG00000168803 99 0 0 58 17 22.6667 B2M 0 genome.wustl.edu 37 15 45003781 45003782 + Frame_Shift_Del DEL CT CT - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 45003781 45003782 CT - DEL B2M ENST00000544417 human ensembl 74_37 +1 known frame_shift_del c.37_38 p.L15fs 0.000:0.000 NULL pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors B2M HGNC ENSG00000166710 141 0 0 89 26 22.6087 ZNF280D 0 genome.wustl.edu 37 15 56927459 56927461 + RNA DEL TAA TAA - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 TAA TAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 56927459 56927461 TAA - DEL ZNF280D ENST00000559446 human ensembl 74_37 -1 putative rna NULL NULL 0.996:0.993:0.963 - - - no_errors ZNF280D HGNC ENSG00000137871 19 0 0 34 11 24.4444 TCF12 0 genome.wustl.edu 37 15 57489984 57489984 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 57489984 57489984 A - DEL TCF12 ENST00000438423 human ensembl 74_37 +1 known frame_shift_del c.540 p.V183fs 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF12 HGNC ENSG00000140262 85 0 0 48 17 26.1538 NARG2 0 genome.wustl.edu 37 15 60745938 60745939 + Frame_Shift_Ins INS - - G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 60745938 60745939 - G INS NARG2 ENST00000261520 human ensembl 74_37 -1 known frame_shift_ins c.989_988 p.Q330fs 0.001:0.104 NULL pfam_NARG2_C - no_errors NARG2 HGNC ENSG00000128915 61 0 0 58 13 18.3099 CD276 0 genome.wustl.edu 37 15 74000799 74000801 + In_Frame_Del DEL GAG GAG - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 74000799 74000801 GAG - DEL CD276 ENST00000318443 human ensembl 74_37 +1 known in_frame_del c.1489_1491 p.E499in_frame_del 1.000:1.000:1.000 NULL pfam_Ig_V-set,pfam_CD80_C2-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD276 HGNC ENSG00000103855 43 0 0 26 10 27.7778 KIAA1024 0 genome.wustl.edu 37 15 79749636 79749636 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 79749636 79749636 T - DEL KIAA1024 ENST00000305428 human ensembl 74_37 +1 known frame_shift_del c.1147 p.F384fs 1.000 NULL pfam_UPF0258 - no_errors KIAA1024 HGNC ENSG00000169330 133 0 0 86 27 23.8938 KIAA1024 0 genome.wustl.edu 37 15 79750586 79750586 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 79750586 79750586 A - DEL KIAA1024 ENST00000305428 human ensembl 74_37 +1 known frame_shift_del c.2097 p.S702fs 0.527 NULL pfam_UPF0258 - no_errors KIAA1024 HGNC ENSG00000169330 224 0 0 160 47 22.7053 MESDC2 0 genome.wustl.edu 37 15 81271633 81271633 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 81271633 81271633 T - DEL MESDC2 ENST00000261758 human ensembl 74_37 -1 known frame_shift_del c.632 p.K211fs 1.000 pfam_Mesoderm_development_cand-2 pfam_Mesoderm_development_cand-2 - no_errors MESDC2 HGNC ENSG00000117899 91 0 0 67 14 17.284 PDE8A 0 genome.wustl.edu 37 15 85669470 85669471 + Frame_Shift_Del DEL TA TA - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 85669470 85669471 TA - DEL PDE8A ENST00000310298 human ensembl 74_37 +1 known frame_shift_del c.2118_2119 p.M707fs 0.032:0.288 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,superfamily_PAS,superfamily_CheY-like_superfamily,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS - no_errors PDE8A HGNC ENSG00000073417 76 0 0 74 22 22.9167 AKAP13 0 genome.wustl.edu 37 15 86227941 86227941 + RNA DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 86227941 86227941 A - DEL AKAP13 ENST00000558092 human ensembl 74_37 +1 putative rna NULL NULL 0.013 - - - no_errors AKAP13 HGNC ENSG00000170776 57 0 0 22 13 37.1429 ENSG00000228998 0 genome.wustl.edu 37 15 90818527 90818529 + RNA DEL GGC GGC - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 GGC GGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 90818527 90818529 GGC - DEL ENSG00000228998 ENST00000411845 human ensembl 74_37 +1 known rna NULL NULL 0.005:0.004:0.001 - - - no_errors RP11-697E2.7 Clone_based_vega_gene ENSG00000228998 29 0 0 10 4 28.5714 CHD2 0 genome.wustl.edu 37 15 93480819 93480819 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 93480819 93480819 A - DEL CHD2 ENST00000420239 human ensembl 74_37 +1 known frame_shift_del c.515 p.V175fs 1.000 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CHD2 HGNC ENSG00000173575 46 0 0 26 15 36.5854 PGPEP1L 0 genome.wustl.edu 37 15 99514376 99514377 + Frame_Shift_Ins INS - - T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 99514376 99514377 - T INS PGPEP1L ENST00000378919 human ensembl 74_37 -1 known frame_shift_ins c.33_32 p.L12fs 0.992:0.999 superfamily_Peptidase_C15-like pfam_Peptidase_C15,superfamily_Peptidase_C15-like - no_errors PGPEP1L HGNC ENSG00000183571 36 0 0 29 4 12.1212 SYNM 0 genome.wustl.edu 37 15 99673231 99673233 + In_Frame_Del DEL GAG GAG - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 15 99673231 99673233 GAG - DEL SYNM ENST00000336292 human ensembl 74_37 +1 known in_frame_del c.4663_4665 p.E1558in_frame_del 1.000:1.000:1.000 NULL pfam_IF - no_errors SYNM HGNC ENSG00000182253 50 0 0 35 8 18.6047 TVP23A 0 genome.wustl.edu 37 16 10867203 10867203 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 10867203 10867203 A - DEL TVP23A ENST00000299866 human ensembl 74_37 -1 known frame_shift_del c.420 p.F140fs 1.000 pfam_DUF846_euk pfam_DUF846_euk - no_errors TVP23A HGNC ENSG00000166676 61 0 0 51 26 33.7662 ENSG00000266163 0 genome.wustl.edu 37 16 12009582 12009582 + RNA DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 12009582 12009582 G - DEL ENSG00000266163 ENST00000583357 human ensembl 74_37 -1 novel rna NULL NULL 1.000 - - - no_errors AC007216.1 Clone_based_ensembl_gene ENSG00000266163 15 0 0 8 3 27.2727 SNX29 0 genome.wustl.edu 37 16 12492337 12492338 + Frame_Shift_Del DEL AG AG - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 12492337 12492338 AG - DEL SNX29 ENST00000306030 human ensembl 74_37 +1 known frame_shift_del c.779_780 p.S261fs 1.000:1.000 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX29 HGNC ENSG00000048471 113 0 0 112 26 18.8406 PTX4 0 genome.wustl.edu 37 16 1536185 1536186 + Frame_Shift_Ins INS - - G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 1536185 1536186 - G INS PTX4 ENST00000447419 human ensembl 74_37 -1 known frame_shift_ins c.1192_1191 p.G397fs 0.992:0.011 pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors PTX4 HGNC ENSG00000251692 67 0 0 60 12 16.6667 PALB2 0 genome.wustl.edu 37 16 23632770 23632770 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 23632770 23632770 G - DEL PALB2 ENST00000261584 human ensembl 74_37 -1 known frame_shift_del c.3026 p.P1009fs 1.000 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom - no_errors PALB2 HGNC ENSG00000083093 88 0 0 51 15 22.7273 ERN2 0 genome.wustl.edu 37 16 23718095 23718096 + Frame_Shift_Ins INS - - G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 23718095 23718096 - G INS ERN2 ENST00000256797 human ensembl 74_37 -1 known frame_shift_ins c.611_610 p.R204fs 0.829:0.894 superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat pfam_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom - no_errors ERN2 HGNC ENSG00000134398 122 0 0 104 20 16.129 GTF3C1 0 genome.wustl.edu 37 16 27509009 27509009 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 27509009 27509009 T - DEL GTF3C1 ENST00000356183 human ensembl 74_37 -1 known frame_shift_del c.2299 p.S767fs 0.542 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 106 0 0 59 22 27.1605 KIF22 0 genome.wustl.edu 37 16 29814177 29814177 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 29814177 29814177 G - DEL KIF22 ENST00000160827 human ensembl 74_37 +1 known frame_shift_del c.1368 p.A458fs 0.748 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_RuvA_2-like,smart_Kinesin_motor_dom,smart_Hlx-hairpin-Hlx_DNA-bd_motif,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF22 HGNC ENSG00000079616 142 0 0 132 24 15.3846 BCL7C 0 genome.wustl.edu 37 16 30903991 30903991 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 30903991 30903991 G - DEL BCL7C ENST00000380317 human ensembl 74_37 -1 known frame_shift_del c.358 p.Q120fs 1.000 NULL pfam_BCL7 - no_errors BCL7C HGNC ENSG00000099385 101 0 0 77 34 30.6306 UBALD1 0 genome.wustl.edu 37 16 4660537 4660537 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 4660537 4660537 A - DEL UBALD1 ENST00000283474 human ensembl 74_37 -1 known frame_shift_del c.140 p.F47fs 1.000 superfamily_UBA-like superfamily_UBA-like - no_errors UBALD1 HGNC ENSG00000153443 35 0 0 22 6 21.4286 ABCC11 0 genome.wustl.edu 37 16 48201048 48201048 + RNA DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 48201048 48201048 C - DEL ABCC11 ENST00000565329 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ABCC11 HGNC ENSG00000121270 20 0 0 17 9 34.6154 GLYR1 0 genome.wustl.edu 37 16 4864621 4864621 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 4864621 4864621 G - DEL GLYR1 ENST00000321919 human ensembl 74_37 -1 known frame_shift_del c.934 p.R312fs 1.000 pfam_6PGDH_NADP-bd pfam_6PGDH_NADP-bd,pfam_PWWP_dom,superfamily_6-PGluconate_DH_C-like,smart_PWWP_dom,pfscan_PWWP_dom - no_errors GLYR1 HGNC ENSG00000140632 58 0 0 52 14 21.2121 ZNF423 0 genome.wustl.edu 37 16 49671937 49671937 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 49671937 49671937 C - DEL ZNF423 ENST00000262383 human ensembl 74_37 -1 known frame_shift_del c.1126 p.A376fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 67 0 0 58 14 19.4444 CKLF 0 genome.wustl.edu 37 16 66599895 66599895 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 66599895 66599895 A - DEL CKLF ENST00000264001 human ensembl 74_37 +1 known frame_shift_del c.440 p.E150fs 0.164 NULL NULL - no_errors CKLF HGNC ENSG00000217555 125 0 0 84 30 26.3158 C16orf70 0 genome.wustl.edu 37 16 67180989 67180989 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 67180989 67180989 C - DEL C16orf70 ENST00000219139 human ensembl 74_37 +1 known frame_shift_del c.1224 p.R411fs 0.994 NULL pfam_UPF0183 - no_errors C16orf70 HGNC ENSG00000125149 217 0 0 152 36 19.1489 RHOT2 0 genome.wustl.edu 37 16 720909 720909 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 720909 720909 C - DEL RHOT2 ENST00000315082 human ensembl 74_37 +1 known frame_shift_del c.657 p.L221fs 0.996 pirsf_Rho_GTPase_Mt,pfam_EF_hand_assoc_2 pirsf_Rho_GTPase_Mt,pfam_EF_hand_assoc_2,pfam_MIRO-like,pfam_EF_hand_assoc_1,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,pfscan_EF_hand_dom - no_errors RHOT2 HGNC ENSG00000140983 46 0 0 35 5 12.5 ZFHX3 0 genome.wustl.edu 37 16 72991713 72991715 + In_Frame_Del DEL CCA CCA - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 CCA CCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 72991713 72991715 CCA - DEL ZFHX3 ENST00000268489 human ensembl 74_37 -1 known in_frame_del c.2332_2330 p.V777in_frame_del 0.943:0.039:0.779 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 110 1 0.900901 110 16 12.6984 RNU6-237P 0 genome.wustl.edu 37 16 74490505 74490505 + RNA DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 74490505 74490505 T - DEL RNU6-237P ENST00000515985 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RNU6-237P HGNC ENSG00000251794 55 0 0 25 12 32.4324 NUDT7 0 genome.wustl.edu 37 16 77775744 77775744 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 77775744 77775744 A - DEL NUDT7 ENST00000268533 human ensembl 74_37 +1 known frame_shift_del c.614 p.K207fs 0.000 NULL pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT7 HGNC ENSG00000140876 126 0 0 77 16 17.2043 SDR42E1 0 genome.wustl.edu 37 16 82034454 82034455 + Frame_Shift_Ins INS - - G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 82034454 82034455 - G INS SDR42E1 ENST00000328945 human ensembl 74_37 -1 known frame_shift_ins c.10_9 p.K3fs 0.000:0.000 NULL pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like - no_errors SDR42E1 HGNC ENSG00000184860 58 0 0 41 4 8.88889 OSGIN1 0 genome.wustl.edu 37 16 83991264 83991264 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 83991264 83991264 C - DEL OSGIN1 ENST00000343939 human ensembl 74_37 +1 putative frame_shift_del c.237 p.P81fs 0.001 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors OSGIN1 HGNC ENSG00000140961 20 0 0 10 4 28.5714 ZDHHC7 0 genome.wustl.edu 37 16 85010039 85010039 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 85010039 85010039 G - DEL ZDHHC7 ENST00000344861 human ensembl 74_37 -1 known frame_shift_del c.948 p.S317fs 0.902 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC7 HGNC ENSG00000153786 95 0 0 66 25 27.4725 ZC3H18 0 genome.wustl.edu 37 16 88694459 88694459 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 88694459 88694459 C - DEL ZC3H18 ENST00000301011 human ensembl 74_37 +1 known frame_shift_del c.2401 p.Q804fs 0.269 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 166 0 0 145 35 19.4444 CPNE7 0 genome.wustl.edu 37 16 89644102 89644102 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 89644102 89644102 G - DEL CPNE7 ENST00000268720 human ensembl 74_37 +1 known frame_shift_del c.330 p.G112fs 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE7 HGNC ENSG00000178773 17 0 0 15 5 25 TCF25 0 genome.wustl.edu 37 16 89951020 89951020 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 16 89951020 89951020 A - DEL TCF25 ENST00000263346 human ensembl 74_37 +1 known frame_shift_del c.385 p.K131fs 1.000 NULL pfam_TCF25 - no_errors TCF25 HGNC ENSG00000141002 44 0 0 35 8 18.6047 LOC100128006 0 genome.wustl.edu 37 17 12663850 12663850 + RNA DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 12663850 12663850 A - DEL LOC100128006 ENST00000584772 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-1090M7.1 Clone_based_vega_gene ENSG00000265489 11 0 0 6 5 45.4545 ULK2 0 genome.wustl.edu 37 17 19729453 19729453 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 19729453 19729453 T - DEL ULK2 ENST00000361658 human ensembl 74_37 -1 known frame_shift_del c.834 p.K278fs 1.000 superfamily_Kinase-like_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_dom,pfam_Ser/Thr_kinase_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK2 HGNC ENSG00000083290 69 0 0 63 15 19.2308 ULK2 0 genome.wustl.edu 37 17 19744819 19744820 + Frame_Shift_Ins INS - - T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 19744819 19744820 - T INS ULK2 ENST00000361658 human ensembl 74_37 -1 known frame_shift_ins c.687_686 p.N229fs 1.000:1.000 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,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser/Thr_kinase_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK2 HGNC ENSG00000083290 60 0 0 38 10 20.8333 SPECC1 0 genome.wustl.edu 37 17 20108263 20108263 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 20108263 20108263 A - DEL SPECC1 ENST00000261503 human ensembl 74_37 +1 known frame_shift_del c.901 p.N303fs 0.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1 HGNC ENSG00000128487 156 0 0 122 32 20.7792 MAP2K3 0 genome.wustl.edu 37 17 21202190 21202191 + Frame_Shift_Ins INS - - C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 21202190 21202191 - C INS MAP2K3 ENST00000342679 human ensembl 74_37 +1 known frame_shift_ins c.117_118 p.R41fs 1.000:1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP2K3 HGNC ENSG00000034152 117 0 0 94 14 12.963 LHX1 0 genome.wustl.edu 37 17 35300394 35300395 + Frame_Shift_Ins INS - - C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 35300394 35300395 - C INS LHX1 ENST00000254457 human ensembl 74_37 +1 known frame_shift_ins c.1187_1188 p.E399fs 1.000:1.000 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX1 HGNC ENSG00000132130 39 0 0 26 9 25.7143 PCGF2 0 genome.wustl.edu 37 17 36896587 36896587 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 36896587 36896587 C - DEL PCGF2 ENST00000360797 human ensembl 74_37 -1 known frame_shift_del c.69 p.Y24fs 0.003 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF2 HGNC ENSG00000056661 143 0 0 91 21 18.75 AOC3 0 genome.wustl.edu 37 17 41008501 41008502 + Frame_Shift_Ins INS - - C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 41008501 41008502 - C INS AOC3 ENST00000308423 human ensembl 74_37 +1 known frame_shift_ins c.2226_2227 p.Q743fs 0.000:0.000 superfamily_Cu_amine_oxidase_C pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC3 HGNC ENSG00000131471 94 0 0 68 11 13.9241 HDAC5 0 genome.wustl.edu 37 17 42160038 42160038 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 42160038 42160038 C - DEL HDAC5 ENST00000225983 human ensembl 74_37 -1 known frame_shift_del c.2525 p.G842fs 1.000 pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC5 HGNC ENSG00000108840 46 0 0 34 13 27.6596 SLC25A39 0 genome.wustl.edu 37 17 42397453 42397453 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 42397453 42397453 G - DEL SLC25A39 ENST00000377095 human ensembl 74_37 -1 known frame_shift_del c.996 p.S333fs 0.070 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A39 HGNC ENSG00000013306 136 0 0 102 24 19.0476 XYLT2 0 genome.wustl.edu 37 17 48433967 48433967 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 48433967 48433967 C - DEL XYLT2 ENST00000017003 human ensembl 74_37 +1 known frame_shift_del c.1578 p.G529fs 1.000 pfam_XylT pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 118 0 0 100 31 23.6641 CAMTA2 0 genome.wustl.edu 37 17 4884998 4885000 + In_Frame_Del DEL CTC CTC - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 4884998 4885000 CTC - DEL CAMTA2 ENST00000414043 human ensembl 74_37 -1 known in_frame_del c.609_607 p.E203in_frame_del 1.000:1.000:1.000 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 103 0 0 74 19 20.4301 ENSG00000267207 0 genome.wustl.edu 37 17 59112018 59112018 + RNA DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 59112018 59112018 T - DEL ENSG00000267207 ENST00000588604 human ensembl 74_37 -1 known rna NULL NULL 0.110 - - - no_errors RP11-264B14.1 Clone_based_vega_gene ENSG00000267207 59 0 0 33 8 19.5122 TBX4 0 genome.wustl.edu 37 17 59560345 59560345 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 59560345 59560345 C - DEL TBX4 ENST00000393853 human ensembl 74_37 +1 known frame_shift_del c.1109 p.P372fs 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX4 HGNC ENSG00000121075 62 0 0 63 20 24.0964 TBC1D3P2 0 genome.wustl.edu 37 17 60351194 60351194 + RNA DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 60351194 60351194 T - DEL TBC1D3P2 ENST00000339120 human ensembl 74_37 -1 known rna NULL NULL 0.048 - - - no_errors TBC1D3P2 HGNC ENSG00000188755 337 0 0 255 82 24.3323 STRADA 0 genome.wustl.edu 37 17 61781058 61781058 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 61781058 61781058 G - DEL STRADA ENST00000336174 human ensembl 74_37 -1 known frame_shift_del c.1197 p.I400fs 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STRADA HGNC ENSG00000266173 112 0 0 75 21 21.875 TEX2 0 genome.wustl.edu 37 17 62265577 62265578 + Frame_Shift_Ins INS - - G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 62265577 62265578 - G INS TEX2 ENST00000258991 human ensembl 74_37 -1 known frame_shift_ins c.2396_2395 p.Q799fs 0.250:0.355 NULL pfam_DUF2404 - no_errors TEX2 HGNC ENSG00000136478 159 0 0 127 28 18.0645 ABCA10 0 genome.wustl.edu 37 17 67218780 67218780 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 67218780 67218780 T - DEL ABCA10 ENST00000269081 human ensembl 74_37 -1 known frame_shift_del c.93 p.K31fs 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ENSG00000154263 83 0 0 72 17 19.1011 CASKIN2 0 genome.wustl.edu 37 17 73498972 73498973 + Frame_Shift_Ins INS - - G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 73498972 73498973 - G INS CASKIN2 ENST00000321617 human ensembl 74_37 -1 known frame_shift_ins c.2183_2182 p.Q728fs 0.990:0.992 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN2 HGNC ENSG00000177303 96 0 0 77 14 15.3846 UBE2O 0 genome.wustl.edu 37 17 74388088 74388089 + Frame_Shift_Ins INS - - G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 74388088 74388089 - G INS UBE2O ENST00000319380 human ensembl 74_37 -1 known frame_shift_ins c.3053_3052 p.H1018fs 1.000:1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2O HGNC ENSG00000175931 34 0 0 25 8 24.2424 RHBDF2 0 genome.wustl.edu 37 17 74473337 74473337 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 74473337 74473337 G - DEL RHBDF2 ENST00000313080 human ensembl 74_37 -1 known frame_shift_del c.932 p.P311fs 1.000 pfam_Rhomboid_SP pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDF2 HGNC ENSG00000129667 24 0 0 30 8 21.0526 DNAH17 0 genome.wustl.edu 37 17 76471926 76471926 + RNA DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 76471926 76471926 A - DEL DNAH17 ENST00000586052 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DNAH17 HGNC ENSG00000187775 29 0 0 27 4 12.9032 NOTUM 0 genome.wustl.edu 37 17 79911029 79911029 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 17 79911029 79911029 G - DEL NOTUM ENST00000409678 human ensembl 74_37 -1 known frame_shift_del c.1299 p.V434fs 0.385 NULL pfam_NOTUM - no_errors NOTUM HGNC ENSG00000185269 51 0 0 38 16 29.6296 PIEZO2 0 genome.wustl.edu 37 18 10680211 10680212 + Frame_Shift_Ins INS - - A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 18 10680211 10680212 - A INS PIEZO2 ENST00000538948 human ensembl 74_37 -1 known frame_shift_ins c.1469_1468 p.S490fs 1.000:1.000 pfam_Piezo pfam_Piezo - no_errors PIEZO2 HGNC ENSG00000154864 95 0 0 52 16 23.5294 ENSG00000252258 0 genome.wustl.edu 37 18 3025533 3025533 + RNA DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 18 3025533 3025533 A - DEL ENSG00000252258 ENST00000516449 human ensembl 74_37 -1 novel rna NULL NULL 0.000 - - - no_errors SNORA70 RFAM ENSG00000252258 29 0 0 26 17 39.5349 ASXL3 0 genome.wustl.edu 37 18 31319986 31319986 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 18 31319986 31319986 A - DEL ASXL3 ENST00000269197 human ensembl 74_37 +1 known frame_shift_del c.2618 p.V876fs 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 59 0 0 38 13 25.4902 MYOM1 0 genome.wustl.edu 37 18 3151848 3151849 + Frame_Shift_Del DEL GT GT - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 18 3151848 3151849 GT - DEL MYOM1 ENST00000356443 human ensembl 74_37 -1 known frame_shift_del c.1687_1686 p.P563fs 1.000:0.989 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM1 HGNC ENSG00000101605 79 0 0 60 19 24.0506 SERPINB10 0 genome.wustl.edu 37 18 61584739 61584739 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 18 61584739 61584739 A - DEL SERPINB10 ENST00000238508 human ensembl 74_37 +1 known frame_shift_del c.218 p.R76fs 0.998 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB10 HGNC ENSG00000242550 10 0 0 13 4 23.5294 NFATC1 0 genome.wustl.edu 37 18 77246607 77246607 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 18 77246607 77246607 C - DEL NFATC1 ENST00000427363 human ensembl 74_37 +1 known frame_shift_del c.2452 p.P819fs 0.150 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC1 HGNC ENSG00000131196 25 0 0 19 3 13.6364 PARD6G 0 genome.wustl.edu 37 18 77917844 77917845 + Frame_Shift_Ins INS - - G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 18 77917844 77917845 - G INS PARD6G ENST00000353265 human ensembl 74_37 -1 known frame_shift_ins c.941_940 p.Q314fs 0.169:0.162 NULL pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ - no_errors PARD6G HGNC ENSG00000178184 8 0 0 5 4 44.4444 KRI1 0 genome.wustl.edu 37 19 10676488 10676488 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 10676488 10676488 C - DEL KRI1 ENST00000361821 human ensembl 74_37 -1 putative frame_shift_del c.79 p.A27fs 0.000 NULL pfam_KRR1-interact_protein_1 - no_errors KRI1 HGNC ENSG00000129347 16 0 0 5 6 54.5455 ELAVL3 0 genome.wustl.edu 37 19 11577605 11577605 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 11577605 11577605 C - DEL ELAVL3 ENST00000359227 human ensembl 74_37 -1 known frame_shift_del c.47 p.G16fs 1.000 NULL pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL3 HGNC ENSG00000196361 40 0 0 31 10 24.3902 PCSK4 0 genome.wustl.edu 37 19 1487089 1487089 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 1487089 1487089 G - DEL PCSK4 ENST00000588195 human ensembl 74_37 -1 known frame_shift_del c.817 p.L273fs 0.000 NULL pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept - no_errors PCSK4 HGNC ENSG00000115257 50 0 0 56 13 18.8406 MAP1S 0 genome.wustl.edu 37 19 17837574 17837574 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 17837574 17837574 C - DEL MAP1S ENST00000324096 human ensembl 74_37 +1 known frame_shift_del c.1381 p.Q462fs 0.631 NULL NULL - no_errors MAP1S HGNC ENSG00000130479 8 0 0 10 3 23.0769 RPL18A 0 genome.wustl.edu 37 19 17974063 17974065 + In_Frame_Del DEL CTT CTT - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 17974063 17974065 CTT - DEL RPL18A ENST00000222247 human ensembl 74_37 +1 known in_frame_del c.522_524 p.F176in_frame_del 1.000:1.000:1.000 NULL pfam_Ribosomal_L18a/LX - no_errors RPL18A HGNC ENSG00000105640 42 0 0 30 7 18.9189 MAST3 0 genome.wustl.edu 37 19 18255931 18255932 + Frame_Shift_Ins INS - - C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 18255931 18255932 - C INS MAST3 ENST00000262811 human ensembl 74_37 +1 known frame_shift_ins c.2844_2845 p.I950fs 1.000:1.000 superfamily_PDZ,pfscan_PDZ pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST3 HGNC ENSG00000099308 236 0 0 189 50 20.9205 GDF15 0 genome.wustl.edu 37 19 18499387 18499387 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 18499387 18499387 G - DEL GDF15 ENST00000252809 human ensembl 74_37 +1 known frame_shift_del c.569 p.R192fs 0.953 NULL pfam_TGF-b_C,smart_TGF-b_C - no_errors GDF15 HGNC ENSG00000130513 35 0 0 21 10 32.2581 ZNF253 0 genome.wustl.edu 37 19 20002392 20002392 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 20002392 20002392 A - DEL ZNF253 ENST00000589717 human ensembl 74_37 +1 known frame_shift_del c.336 p.G115fs 0.023 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF253 HGNC ENSG00000256771 49 0 0 35 9 20.4545 ZNF486 0 genome.wustl.edu 37 19 20307886 20307886 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 20307886 20307886 A - DEL ZNF486 ENST00000335117 human ensembl 74_37 +1 known frame_shift_del c.367 p.G125fs 0.994 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF486 HGNC ENSG00000256229 80 0 0 52 15 22.3881 ZNF486 0 genome.wustl.edu 37 19 20308120 20308120 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 20308120 20308120 A - DEL ZNF486 ENST00000335117 human ensembl 74_37 +1 known frame_shift_del c.601 p.I203fs 0.668 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF486 HGNC ENSG00000256229 50 0 0 35 7 16.6667 C19orf12 0 genome.wustl.edu 37 19 30193868 30193868 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 30193868 30193868 C - DEL C19orf12 ENST00000392278 human ensembl 74_37 -1 known frame_shift_del c.210 p.L71fs 0.004 NULL NULL - no_errors C19orf12 HGNC ENSG00000131943 172 0 0 149 37 19.8925 KIAA0355 0 genome.wustl.edu 37 19 34838876 34838876 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 34838876 34838876 C - DEL KIAA0355 ENST00000299505 human ensembl 74_37 +1 known frame_shift_del c.2616 p.R874fs 1.000 NULL NULL - no_errors KIAA0355 HGNC ENSG00000166398 85 0 0 85 27 24.1071 MAG 0 genome.wustl.edu 37 19 35791135 35791135 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 35791135 35791135 C - DEL MAG ENST00000392213 human ensembl 74_37 +1 known frame_shift_del c.798 p.P268fs 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MAG HGNC ENSG00000105695 16 0 0 23 4 14.8148 KMT2B 0 genome.wustl.edu 37 19 36210764 36210764 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 36210764 36210764 C - DEL KMT2B ENST00000222270 human ensembl 74_37 +1 known frame_shift_del c.515 p.P174fs 0.976 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 190 0 0 117 43 26.875 KMT2B 0 genome.wustl.edu 37 19 36223175 36223175 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 36223175 36223175 C - DEL KMT2B ENST00000222270 human ensembl 74_37 +1 known frame_shift_del c.5725 p.R1911fs 0.999 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 25 0 0 23 7 23.3333 ZNF540 0 genome.wustl.edu 37 19 38102620 38102620 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 38102620 38102620 A - DEL ZNF540 ENST00000316433 human ensembl 74_37 +1 known frame_shift_del c.439 p.M149fs 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF540 HGNC ENSG00000171817 108 0 0 68 21 23.5955 ZNF540 0 genome.wustl.edu 37 19 38102983 38102983 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 38102983 38102983 A - DEL ZNF540 ENST00000316433 human ensembl 74_37 +1 known frame_shift_del c.802 p.K269fs 0.024 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 ZNF540 HGNC ENSG00000171817 29 0 0 33 7 17.5 ZNF180 0 genome.wustl.edu 37 19 44982338 44982338 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 44982338 44982338 T - DEL ZNF180 ENST00000221327 human ensembl 74_37 -1 known frame_shift_del c.360 p.D121fs 0.021 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF180 HGNC ENSG00000167384 51 0 0 32 10 23.8095 MYPOP 0 genome.wustl.edu 37 19 46393971 46393972 + Frame_Shift_Ins INS - - G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 46393971 46393972 - G INS MYPOP ENST00000322217 human ensembl 74_37 -1 known frame_shift_ins c.1110_1109 p.A371fs 0.082:0.086 NULL superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYPOP HGNC ENSG00000176182 32 0 0 28 2 6.66667 HIF3A 0 genome.wustl.edu 37 19 46811551 46811551 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 46811551 46811551 C - DEL HIF3A ENST00000377670 human ensembl 74_37 +1 known frame_shift_del c.437 p.Q148fs 0.761 smart_PAS,pfscan_PAS pfam_PAS_fold_3,pfam_PAS_fold,pfam_HIF_alpha_subunit,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,tigrfam_PAS - no_errors HIF3A HGNC ENSG00000124440 152 0 0 128 32 20 RASIP1 0 genome.wustl.edu 37 19 49232772 49232773 + Frame_Shift_Ins INS - - C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 49232772 49232773 - C INS RASIP1 ENST00000222145 human ensembl 74_37 -1 known frame_shift_ins c.1255_1254 p.S418fs 0.999:0.983 superfamily_SMAD_FHA_domain pfam_Dil_domain,pfam_Ras-assoc,superfamily_SMAD_FHA_domain,smart_Ras-assoc,pfscan_Dilute,pfscan_Ras-assoc - no_errors RASIP1 HGNC ENSG00000105538 14 0 0 13 5 27.7778 PLEKHA4 0 genome.wustl.edu 37 19 49344468 49344468 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 49344468 49344468 G - DEL PLEKHA4 ENST00000263265 human ensembl 74_37 -1 known frame_shift_del c.1843 p.R615fs 0.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA4 HGNC ENSG00000105559 28 0 0 23 3 11.5385 TEAD2 0 genome.wustl.edu 37 19 49850472 49850473 + Frame_Shift_Ins INS - - G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 49850472 49850473 - G INS TEAD2 ENST00000311227 human ensembl 74_37 -1 known frame_shift_ins c.884_883 p.H295fs 0.971:0.961 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD2 HGNC ENSG00000074219 328 1 0.303951 271 59 17.8788 SLC17A7 0 genome.wustl.edu 37 19 49937127 49937128 + Splice_Site INS - - G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 49937127 49937128 - G INS SLC17A7 ENST00000221485 human ensembl 74_37 -1 known splice_site_ins c.725-3_725-2 e7-2 1.000:0.992 - - - no_errors SLC17A7 HGNC ENSG00000104888 51 0 0 48 11 18.6441 TSKS 0 genome.wustl.edu 37 19 50243064 50243064 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 50243064 50243064 G - DEL TSKS ENST00000246801 human ensembl 74_37 -1 known frame_shift_del c.1748 p.P583fs 1.000 NULL NULL - no_errors TSKS HGNC ENSG00000126467 183 0 0 177 14 7.32984 SPIB 0 genome.wustl.edu 37 19 50926122 50926122 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 50926122 50926122 C - DEL SPIB ENST00000595883 human ensembl 74_37 +1 known frame_shift_del c.167 p.Y58fs 0.027 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors SPIB HGNC ENSG00000269404 181 0 0 140 38 21.3483 SHANK1 0 genome.wustl.edu 37 19 51170817 51170817 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 51170817 51170817 G - DEL SHANK1 ENST00000391814 human ensembl 74_37 -1 known frame_shift_del c.4424 p.P1475fs 0.839 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK1 HGNC ENSG00000161681 10 0 0 10 3 23.0769 ZNF83 0 genome.wustl.edu 37 19 53117419 53117419 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 53117419 53117419 T - DEL ZNF83 ENST00000301096 human ensembl 74_37 -1 known frame_shift_del c.399 p.K133fs 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF83 HGNC ENSG00000167766 55 0 0 40 12 23.0769 ENSG00000267865 0 genome.wustl.edu 37 19 56220431 56220431 + RNA DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 56220431 56220431 T - DEL ENSG00000267865 ENST00000596293 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2611O12.8 Clone_based_vega_gene ENSG00000267865 56 0 0 22 14 38.8889 NLRP9 0 genome.wustl.edu 37 19 56244406 56244406 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 56244406 56244406 T - DEL NLRP9 ENST00000332836 human ensembl 74_37 -1 known frame_shift_del c.791 p.K264fs 0.000 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC ENSG00000185792 72 0 0 66 13 16.4557 ZNF549 0 genome.wustl.edu 37 19 58049657 58049657 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 58049657 58049657 A - DEL ZNF549 ENST00000376233 human ensembl 74_37 +1 known frame_shift_del c.1285 p.R431fs 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF549 HGNC ENSG00000121406 80 0 0 48 11 18.6441 ZNF530 0 genome.wustl.edu 37 19 58115649 58115649 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 58115649 58115649 T - DEL ZNF530 ENST00000332854 human ensembl 74_37 +1 known frame_shift_del c.35 p.F13fs 0.039 superfamily_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF530 HGNC ENSG00000183647 174 0 0 144 46 24.2105 DENND1C 0 genome.wustl.edu 37 19 6467757 6467758 + Frame_Shift_Ins INS - - G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 6467757 6467758 - G INS DENND1C ENST00000381480 human ensembl 74_37 -1 known frame_shift_ins c.2164_2163 p.T721fs 0.001:0.007 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1C HGNC ENSG00000205744 27 0 0 21 6 22.2222 DENND1C 0 genome.wustl.edu 37 19 6477251 6477251 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 6477251 6477251 G - DEL DENND1C ENST00000381480 human ensembl 74_37 -1 known frame_shift_del c.491 p.P164fs 0.983 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1C HGNC ENSG00000205744 57 0 0 44 12 21.4286 MAP2K7 0 genome.wustl.edu 37 19 7976044 7976047 + Frame_Shift_Del DEL AGTG AGTG - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 AGTG AGTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 7976044 7976047 AGTG - DEL MAP2K7 ENST00000545011 human ensembl 74_37 +1 known frame_shift_del c.981 p.E329fs 0.998 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 MAP2K7 HGNC ENSG00000076984 51 0 0 58 10 14.7059 MAP2K7 0 genome.wustl.edu 37 19 7976149 7976149 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 19 7976149 7976149 C - DEL MAP2K7 ENST00000545011 human ensembl 74_37 +1 known frame_shift_del c.996 p.P334fs 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 MAP2K7 HGNC ENSG00000076984 129 0 0 103 30 22.5564 CCDC138 0 genome.wustl.edu 37 2 109421455 109421455 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 109421455 109421455 A - DEL CCDC138 ENST00000295124 human ensembl 74_37 +1 known frame_shift_del c.846 p.K284fs 0.996 NULL NULL - no_errors CCDC138 HGNC ENSG00000163006 34 0 0 24 6 20 PSD4 0 genome.wustl.edu 37 2 113942980 113942980 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 113942980 113942980 T - DEL PSD4 ENST00000245796 human ensembl 74_37 +1 known frame_shift_del c.1212 p.W406fs 0.582 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD4 HGNC ENSG00000125637 240 0 0 190 52 21.4876 SLC35F5 0 genome.wustl.edu 37 2 114500277 114500278 + Frame_Shift_Del DEL AA AA - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 114500277 114500278 AA - DEL SLC35F5 ENST00000245680 human ensembl 74_37 -1 known frame_shift_del c.742_741 p.F247fs 1.000:1.000 pfam_DMT pfam_DMT - no_errors SLC35F5 HGNC ENSG00000115084 89 0 0 83 35 29.661 C2orf76 0 genome.wustl.edu 37 2 120069281 120069282 + Splice_Site INS - - A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 120069281 120069282 - A INS C2orf76 ENST00000334816 human ensembl 74_37 -1 known splice_site_ins c.223-3_223-2 e4-2 0.984:0.405 - - - no_errors C2orf76 HGNC ENSG00000186132 32 0 0 26 7 21.2121 EPB41L5 0 genome.wustl.edu 37 2 120836150 120836150 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 120836150 120836150 T - DEL EPB41L5 ENST00000263713 human ensembl 74_37 +1 known frame_shift_del c.796 p.W268fs 1.000 pfam_FERM_PH-like_C,pfscan_FERM_domain pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L5 HGNC ENSG00000115109 36 0 0 36 7 16.2791 ENSG00000224789 0 genome.wustl.edu 37 2 120932582 120932583 + RNA INS - - A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 120932582 120932583 - A INS ENSG00000224789 ENST00000455707 human ensembl 74_37 -1 known rna NULL NULL 0.007:0.008 - - - no_errors AC012363.4 Clone_based_vega_gene ENSG00000224789 56 0 0 38 10 20.8333 ENSG00000231731 0 genome.wustl.edu 37 2 128263364 128263367 + RNA DEL AAAA AAAA - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 128263364 128263367 AAAA - DEL ENSG00000231731 ENST00000599001 human ensembl 74_37 +1 known rna NULL NULL 0.233:0.319:0.309:0.217 - - - no_errors AC010976.2 Clone_based_vega_gene ENSG00000231731 54 0 0 41 14 25.4545 POTEE 0 genome.wustl.edu 37 2 132021259 132021260 + Frame_Shift_Ins INS - - G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 132021259 132021260 - G INS POTEE ENST00000356920 human ensembl 74_37 +1 known frame_shift_ins c.2231_2232 p.M747fs 1.000:1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEE HGNC ENSG00000188219 173 0 0 204 15 6.84932 ZRANB3 0 genome.wustl.edu 37 2 136033260 136033260 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 136033260 136033260 A - DEL ZRANB3 ENST00000264159 human ensembl 74_37 -1 known frame_shift_del c.1032 p.F344fs 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ZRANB3 HGNC ENSG00000121988 32 0 0 26 10 27.7778 ACVR2A 0 genome.wustl.edu 37 2 148657041 148657041 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 148657041 148657041 A - DEL ACVR2A ENST00000241416 human ensembl 74_37 +1 known frame_shift_del c.278 p.D96fs 1.000 pfam_Activin_rcpt,prints_TGFB_receptor pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2A HGNC ENSG00000121989 83 0 0 68 15 18.0723 ACVR2A 0 genome.wustl.edu 37 2 148683686 148683686 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 148683686 148683686 A - DEL ACVR2A ENST00000241416 human ensembl 74_37 +1 known frame_shift_del c.1303 p.K437fs 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2A HGNC ENSG00000121989 93 0 0 78 23 22.7723 LY75 0 genome.wustl.edu 37 2 160676356 160676356 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 160676356 160676356 T - DEL LY75 ENST00000554112 human ensembl 74_37 -1 known frame_shift_del c.4034 p.N1345fs 0.139 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors LY75 HGNC ENSG00000054219 80 0 0 65 20 23.5294 SLC4A10 0 genome.wustl.edu 37 2 162719484 162719485 + Frame_Shift_Ins INS - - A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 162719484 162719485 - A INS SLC4A10 ENST00000446997 human ensembl 74_37 +1 known frame_shift_ins c.678_679 p.L228fs 1.000:1.000 pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A10 HGNC ENSG00000144290 28 0 0 16 8 33.3333 PXDN 0 genome.wustl.edu 37 2 1652984 1652984 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 1652984 1652984 G - DEL PXDN ENST00000252804 human ensembl 74_37 -1 known frame_shift_del c.2568 p.C857fs 0.996 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 53 0 0 37 8 17.7778 COBLL1 0 genome.wustl.edu 37 2 165551296 165551297 + Frame_Shift_Del DEL AA AA - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 165551296 165551297 AA - DEL COBLL1 ENST00000194871 human ensembl 74_37 -1 known frame_shift_del c.2921_2920 p.L974fs 0.972:0.886 NULL pfam_Cordon-bleu_ubiquitin_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 48 0 0 47 8 14.5455 DHRS9 0 genome.wustl.edu 37 2 169938083 169938083 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 169938083 169938083 G - DEL DHRS9 ENST00000432060 human ensembl 74_37 +1 known frame_shift_del c.172 p.G59fs 0.000 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS9 HGNC ENSG00000073737 81 0 0 40 9 18.3673 LRP2 0 genome.wustl.edu 37 2 170042319 170042319 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 170042319 170042319 G - DEL LRP2 ENST00000263816 human ensembl 74_37 -1 known frame_shift_del c.9539 p.P3180fs 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,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 LRP2 HGNC ENSG00000081479 256 0 0 161 30 15.7068 DYNC1I2 0 genome.wustl.edu 37 2 172549339 172549339 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 172549339 172549339 A - DEL DYNC1I2 ENST00000397119 human ensembl 74_37 +1 known frame_shift_del c.161 p.R57fs 1.000 NULL pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I2 HGNC ENSG00000077380 20 0 0 12 4 25 METAP1D 0 genome.wustl.edu 37 2 172928644 172928644 + RNA DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 172928644 172928644 T - DEL METAP1D ENST00000493035 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors METAP1D HGNC ENSG00000172878 42 0 0 27 8 22.8571 MTX2 0 genome.wustl.edu 37 2 177194090 177194090 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 177194090 177194090 A - DEL MTX2 ENST00000249442 human ensembl 74_37 +1 known frame_shift_del c.479 p.K161fs 1.000 superfamily_Glutathione-S-Trfase_C-like pfam_Sam37/metaxin,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold - no_errors MTX2 HGNC ENSG00000128654 82 0 0 46 18 28.125 TTN 0 genome.wustl.edu 37 2 179659863 179659863 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 179659863 179659863 G - DEL TTN ENST00000342992 human ensembl 74_37 -1 known frame_shift_del c.1031 p.P344fs 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 91 0 0 71 16 18.3908 FSIP2 0 genome.wustl.edu 37 2 186678471 186678473 + In_Frame_Del DEL AAG AAG - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 186678471 186678473 AAG - DEL FSIP2 ENST00000343098 human ensembl 74_37 +1 known in_frame_del c.20294_20296 p.E6767in_frame_del 0.000:0.000:0.000 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 36 0 0 21 6 22.2222 DNAH7 0 genome.wustl.edu 37 2 196866535 196866535 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 196866535 196866535 T - DEL DNAH7 ENST00000312428 human ensembl 74_37 -1 known frame_shift_del c.1037 p.K346fs 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 60 0 0 47 10 17.5439 SGOL2 0 genome.wustl.edu 37 2 201437004 201437004 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 201437004 201437004 T - DEL SGOL2 ENST00000357799 human ensembl 74_37 +1 known frame_shift_del c.1935 p.F648fs 0.016 NULL NULL - no_errors SGOL2 HGNC ENSG00000163535 104 0 0 77 15 16.3043 ALS2CR11 0 genome.wustl.edu 37 2 202352352 202352352 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 202352352 202352352 T - DEL ALS2CR11 ENST00000286195 human ensembl 74_37 -1 known frame_shift_del c.1855 p.I619fs 0.576 NULL superfamily_C2_dom - no_errors ALS2CR11 HGNC ENSG00000155754 89 0 0 77 26 25.2427 BMPR2 0 genome.wustl.edu 37 2 203420130 203420130 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 203420130 203420130 A - DEL BMPR2 ENST00000374580 human ensembl 74_37 +1 known frame_shift_del c.1742 p.N583fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BMPR2 HGNC ENSG00000204217 92 0 0 70 20 22.2222 CARF 0 genome.wustl.edu 37 2 203839141 203839141 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 203839141 203839141 A - DEL CARF ENST00000320443 human ensembl 74_37 +1 known frame_shift_del c.1416 p.N474fs 0.998 NULL NULL - no_errors CARF HGNC ENSG00000138380 43 0 0 40 8 16.6667 SDC1 0 genome.wustl.edu 37 2 20402090 20402090 + RNA DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 20402090 20402090 C - DEL SDC1 ENST00000482879 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SDC1 HGNC ENSG00000115884 42 0 0 39 9 18.75 CYP20A1 0 genome.wustl.edu 37 2 204150354 204150354 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 204150354 204150354 T - DEL CYP20A1 ENST00000356079 human ensembl 74_37 +1 known frame_shift_del c.870 p.L292fs 0.995 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV - no_errors CYP20A1 HGNC ENSG00000119004 63 0 0 57 11 16.1765 ZDBF2 0 genome.wustl.edu 37 2 207174869 207174869 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 207174869 207174869 A - DEL ZDBF2 ENST00000374423 human ensembl 74_37 +1 known frame_shift_del c.5617 p.K1875fs 0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 60 0 0 21 8 27.5862 ADAM23 0 genome.wustl.edu 37 2 207460860 207460861 + Frame_Shift_Ins INS - - C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 207460860 207460861 - C INS ADAM23 ENST00000264377 human ensembl 74_37 +1 known frame_shift_ins c.2333_2334 p.K781fs 0.005:0.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM23 HGNC ENSG00000114948 62 0 0 56 12 17.6471 IDH1 0 genome.wustl.edu 37 2 209116262 209116263 + Frame_Shift_Ins INS - - T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 209116262 209116263 - T INS IDH1 ENST00000345146 human ensembl 74_37 -1 known frame_shift_ins c.14_13 p.I5fs 1.000:1.000 pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP - no_errors IDH1 HGNC ENSG00000138413 72 0 0 64 5 7.24638 UNC80 0 genome.wustl.edu 37 2 210642050 210642051 + Frame_Shift_Ins INS - - C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 210642050 210642051 - C INS UNC80 ENST00000439458 human ensembl 74_37 +1 known frame_shift_ins c.367_368 p.Q125fs 1.000:1.000 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 104 0 0 97 22 18.4874 KANSL1L 0 genome.wustl.edu 37 2 210887827 210887827 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 210887827 210887827 T - DEL KANSL1L ENST00000281772 human ensembl 74_37 -1 known frame_shift_del c.2810 p.K937fs 0.004 NULL NULL - no_errors KANSL1L HGNC ENSG00000144445 69 0 0 42 17 28.8136 USP37 0 genome.wustl.edu 37 2 219346910 219346911 + Frame_Shift_Del DEL GA GA - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 219346910 219346911 GA - DEL USP37 ENST00000258399 human ensembl 74_37 -1 known frame_shift_del c.1718_1717 p.S573fs 1.000:1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19/C67 - no_errors USP37 HGNC ENSG00000135913 158 0 0 99 32 24.4275 SPEG 0 genome.wustl.edu 37 2 220330807 220330808 + RNA INS - - C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 220330807 220330808 - C INS SPEG ENST00000462545 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors SPEG HGNC ENSG00000072195 13 0 0 19 9 32.1429 SPEG 0 genome.wustl.edu 37 2 220349122 220349122 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 220349122 220349122 C - DEL SPEG ENST00000312358 human ensembl 74_37 +1 novel frame_shift_del c.6937 p.R2315fs 0.003 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors SPEG HGNC ENSG00000072195 42 0 0 46 17 26.9841 SLC4A3 0 genome.wustl.edu 37 2 220494110 220494111 + Frame_Shift_Ins INS - - C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 220494110 220494111 - C INS SLC4A3 ENST00000273063 human ensembl 74_37 +1 known frame_shift_ins c.462_463 p.H156fs 0.015:0.049 prints_Anion_exchange_3 pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC ENSG00000114923 32 0 0 25 6 19.3548 DOCK10 0 genome.wustl.edu 37 2 225729789 225729790 + Frame_Shift_Ins INS - - A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 225729789 225729790 - A INS DOCK10 ENST00000258390 human ensembl 74_37 -1 known frame_shift_ins c.1273_1272 p.V424fs 1.000:1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 119 1 0.833333 80 28 25.9259 SPHKAP 0 genome.wustl.edu 37 2 228882616 228882617 + Frame_Shift_Del DEL CT CT - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 228882616 228882617 CT - DEL SPHKAP ENST00000392056 human ensembl 74_37 -1 known frame_shift_del c.2954_2953 p.S985fs 0.973:0.968 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 124 0 0 110 36 24.6575 UGT1A3 0 genome.wustl.edu 37 2 234638283 234638283 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 234638283 234638283 T - DEL UGT1A3 ENST00000482026 human ensembl 74_37 +1 known frame_shift_del c.511 p.L173fs 0.996 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A3 HGNC ENSG00000243135 279 0 0 200 58 22.4806 NDUFA10 0 genome.wustl.edu 37 2 240954220 240954221 + Frame_Shift_Ins INS - - G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 240954220 240954221 - G INS NDUFA10 ENST00000252711 human ensembl 74_37 -1 known frame_shift_ins c.605_604 p.H202fs 1.000:0.999 pfam_Deoxynucleoside_kinase,superfamily_P-loop_NTPase,pirsf_NADH_UbQ_OxRdtase_42KD_su pfam_Deoxynucleoside_kinase,superfamily_P-loop_NTPase,pirsf_NADH_UbQ_OxRdtase_42KD_su - no_errors NDUFA10 HGNC ENSG00000130414 143 0 0 102 29 22.1374 HEATR5B 0 genome.wustl.edu 37 2 37208635 37208635 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 37208635 37208635 A - DEL HEATR5B ENST00000233099 human ensembl 74_37 -1 known frame_shift_del c.6214 p.*2072fs 1.000 NULL superfamily_ARM-type_fold - no_errors HEATR5B HGNC ENSG00000008869 57 0 0 23 10 30.303 CEBPZ 0 genome.wustl.edu 37 2 37454908 37454908 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 37454908 37454908 T - DEL CEBPZ ENST00000234170 human ensembl 74_37 -1 known frame_shift_del c.1428 p.D477fs 1.000 superfamily_ARM-type_fold pfam_CCAAT-binding_factor,superfamily_ARM-type_fold - no_errors CEBPZ HGNC ENSG00000115816 48 0 0 34 10 22.7273 PPM1B 0 genome.wustl.edu 37 2 44471475 44471475 + RNA DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 44471475 44471475 T - DEL PPM1B ENST00000378540 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors PPM1B HGNC ENSG00000138032 22 0 0 14 5 26.3158 PAPOLG 0 genome.wustl.edu 37 2 61006708 61006708 + RNA DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 61006708 61006708 A - DEL PAPOLG ENST00000483370 human ensembl 74_37 +1 known rna NULL NULL 0.048 - - - no_errors PAPOLG HGNC ENSG00000115421 33 0 0 21 6 22.2222 USP34 0 genome.wustl.edu 37 2 61571087 61571087 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 61571087 61571087 T - DEL USP34 ENST00000398571 human ensembl 74_37 -1 known frame_shift_del c.2363 p.N788fs 1.000 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 73 0 0 60 11 15.493 ETAA1 0 genome.wustl.edu 37 2 67629927 67629928 + RNA INS - - T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 67629927 67629928 - T INS ETAA1 ENST00000462772 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.156 - - - no_errors ETAA1 HGNC ENSG00000143971 26 0 0 16 13 44.8276 TET3 0 genome.wustl.edu 37 2 74274036 74274037 + Frame_Shift_Del DEL TC TC - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 74274036 74274037 TC - DEL TET3 ENST00000409262 human ensembl 74_37 +1 known frame_shift_del c.587_588 p.Q199fs 0.001:0.000 NULL NULL - no_errors TET3 HGNC ENSG00000187605 72 0 0 51 23 31.0811 CCDC142 0 genome.wustl.edu 37 2 74701701 74701702 + Frame_Shift_Ins INS - - A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 74701701 74701702 - A INS CCDC142 ENST00000393965 human ensembl 74_37 -1 known frame_shift_ins c.2225_2224 p.S742fs 0.979:0.984 NULL NULL - no_errors CCDC142 HGNC ENSG00000135637 82 0 0 70 14 16.6667 FAHD2CP 0 genome.wustl.edu 37 2 96687157 96687157 + RNA DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 96687157 96687157 C - DEL FAHD2CP ENST00000443258 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors FAHD2CP HGNC ENSG00000231584 32 0 0 24 7 22.5806 LIPT1 0 genome.wustl.edu 37 2 99778504 99778504 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 99778504 99778504 A - DEL LIPT1 ENST00000340066 human ensembl 74_37 +1 known frame_shift_del c.84 p.N30fs 0.031 NULL pfam_BPL_LipA_LipB,tigrfam_LipoylTrfase_LipoateP_Ligase - no_errors LIPT1 HGNC ENSG00000144182 112 0 0 75 24 24.2424 LIPT1 0 genome.wustl.edu 37 2 99778781 99778781 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 2 99778781 99778781 A - DEL LIPT1 ENST00000340066 human ensembl 74_37 +1 known frame_shift_del c.361 p.K123fs 0.994 pfam_BPL_LipA_LipB,tigrfam_LipoylTrfase_LipoateP_Ligase pfam_BPL_LipA_LipB,tigrfam_LipoylTrfase_LipoateP_Ligase - no_errors LIPT1 HGNC ENSG00000144182 100 0 0 38 18 32.1429 NDUFAF5 0 genome.wustl.edu 37 20 13797842 13797842 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 13797842 13797842 A - DEL NDUFAF5 ENST00000378106 human ensembl 74_37 +1 known frame_shift_del c.1024 p.K343fs 0.026 NULL pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_Put_SAM_MeTrfase - no_errors NDUFAF5 HGNC ENSG00000101247 158 0 0 138 8 5.47945 PYGB 0 genome.wustl.edu 37 20 25262727 25262727 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 25262727 25262727 A - DEL PYGB ENST00000216962 human ensembl 74_37 +1 known frame_shift_del c.1462 p.T488fs 1.000 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGB HGNC ENSG00000100994 83 0 0 72 5 6.49351 PYGB 0 genome.wustl.edu 37 20 25262728 25262728 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 25262728 25262728 C - DEL PYGB ENST00000216962 human ensembl 74_37 +1 known frame_shift_del c.1463 p.R490fs 1.000 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGB HGNC ENSG00000100994 83 0 0 70 10 12.5 HM13 0 genome.wustl.edu 37 20 30142485 30142487 + RNA DEL AAA AAA - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 30142485 30142487 AAA - DEL HM13 ENST00000474466 human ensembl 74_37 +1 known rna NULL NULL 0.172:0.159:0.155 - - - no_errors HM13 HGNC ENSG00000101294 25 0 0 12 11 47.8261 SLC4A11 0 genome.wustl.edu 37 20 3210958 3210958 + RNA DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 3210958 3210958 G - DEL SLC4A11 ENST00000470631 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SLC4A11 HGNC ENSG00000088836 54 0 0 40 11 21.5686 MIR644A 0 genome.wustl.edu 37 20 33054130 33054130 + RNA DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 33054130 33054130 T - DEL MIR644A ENST00000385262 human ensembl 74_37 +1 known rna NULL NULL 0.030 - - - no_errors MIR644A HGNC ENSG00000207997 23 0 0 15 5 25 CEP250 0 genome.wustl.edu 37 20 34078523 34078524 + Frame_Shift_Ins INS - - A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 34078523 34078524 - A INS CEP250 ENST00000397527 human ensembl 74_37 +1 known frame_shift_ins c.2647_2648 p.M885fs 0.960:0.967 NULL superfamily_Prefoldin - no_errors CEP250 HGNC ENSG00000126001 74 0 0 41 23 35.9375 PIGT 0 genome.wustl.edu 37 20 44050025 44050026 + Frame_Shift_Ins INS - - C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 44050025 44050026 - C INS PIGT ENST00000279036 human ensembl 74_37 +1 known frame_shift_ins c.1036_1037 p.V349fs 0.980:0.666 pfam_PIG-T pfam_PIG-T - no_errors PIGT HGNC ENSG00000124155 45 0 0 47 10 17.5439 DDX27 0 genome.wustl.edu 37 20 47858504 47858504 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 47858504 47858504 A - DEL DDX27 ENST00000371764 human ensembl 74_37 +1 known frame_shift_del c.2065 p.K691fs 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX27 HGNC ENSG00000124228 126 1 0.787402 99 22 18.1818 NFATC2 0 genome.wustl.edu 37 20 50159027 50159027 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 50159027 50159027 G - DEL NFATC2 ENST00000396009 human ensembl 74_37 -1 known frame_shift_del c.12 p.E5fs 0.970 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC2 HGNC ENSG00000101096 17 0 0 16 7 30.4348 SYCP2 0 genome.wustl.edu 37 20 58452519 58452519 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 58452519 58452519 T - DEL SYCP2 ENST00000357552 human ensembl 74_37 -1 known frame_shift_del c.3071 p.N1024fs 1.000 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 37 0 0 20 7 25.9259 CDH26 0 genome.wustl.edu 37 20 58587784 58587784 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 58587784 58587784 A - DEL CDH26 ENST00000348616 human ensembl 74_37 +1 known frame_shift_del c.2498 p.*833fs 0.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH26 HGNC ENSG00000124215 56 0 0 33 11 25 PRPF6 0 genome.wustl.edu 37 20 62654186 62654187 + Frame_Shift_Del DEL GT GT - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 62654186 62654187 GT - DEL PRPF6 ENST00000266079 human ensembl 74_37 +1 known frame_shift_del c.1724_1725 p.W577fs 1.000:0.459 smart_HAT pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRPF6 HGNC ENSG00000101161 103 0 0 98 29 22.8346 PAK7 0 genome.wustl.edu 37 20 9561247 9561247 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 20 9561247 9561247 C - DEL PAK7 ENST00000353224 human ensembl 74_37 -1 known frame_shift_del c.535 p.E179fs 0.692 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK7 HGNC ENSG00000101349 200 0 0 149 49 24.7475 LTN1 0 genome.wustl.edu 37 21 30316753 30316753 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 21 30316753 30316753 A - DEL LTN1 ENST00000389194 human ensembl 74_37 -1 known frame_shift_del c.4072 p.S1358fs 0.986 NULL pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors LTN1 HGNC ENSG00000198862 82 0 0 63 10 13.6986 RWDD2B 0 genome.wustl.edu 37 21 30378685 30378685 + RNA DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 21 30378685 30378685 A - DEL RWDD2B ENST00000286777 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RWDD2B HGNC ENSG00000156253 14 0 0 11 4 26.6667 TTC3 0 genome.wustl.edu 37 21 38512962 38512963 + Frame_Shift_Ins INS - - A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 21 38512962 38512963 - A INS TTC3 ENST00000354749 human ensembl 74_37 +1 known frame_shift_ins c.1761_1762 p.N589fs 0.998:1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 101 1 0.980392 80 23 22.3301 ERG 0 genome.wustl.edu 37 21 39755554 39755554 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 21 39755554 39755554 G - DEL ERG ENST00000398919 human ensembl 74_37 -1 known frame_shift_del c.1232 p.P411fs 0.987 NULL pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ERG HGNC ENSG00000157554 145 1 0.684932 102 21 17.0732 KRTAP10-9 0 genome.wustl.edu 37 21 46047366 46047366 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 21 46047366 46047366 C - DEL KRTAP10-9 ENST00000397911 human ensembl 74_37 +1 known frame_shift_del c.278 p.C95fs 0.984 NULL NULL - no_errors KRTAP10-9 HGNC ENSG00000221837 327 0 0 249 63 20.1923 CCT8L2 0 genome.wustl.edu 37 22 17071787 17071787 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 22 17071787 17071787 T - DEL CCT8L2 ENST00000359963 human ensembl 74_37 -1 known frame_shift_del c.1654 p.I552fs 0.000 NULL pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1 - no_errors CCT8L2 HGNC ENSG00000198445 132 1 0.75188 74 26 26 ANKRD62P1-PARP4P3 0 genome.wustl.edu 37 22 17140438 17140438 + RNA DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 22 17140438 17140438 T - DEL ANKRD62P1-PARP4P3 ENST00000456726 human ensembl 74_37 -1 known rna NULL NULL 0.042 - - - no_errors ANKRD62P1-PARP4P3 HGNC ENSG00000189295 52 0 0 27 8 22.8571 EIF4ENIF1 0 genome.wustl.edu 37 22 31884676 31884677 + Frame_Shift_Del DEL TC TC - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 22 31884676 31884677 TC - DEL EIF4ENIF1 ENST00000330125 human ensembl 74_37 -1 known frame_shift_del c.29_28 p.E10fs 1.000:1.000 NULL pfam_eIF4E_transporter - no_errors EIF4ENIF1 HGNC ENSG00000184708 97 0 0 41 12 22.6415 ARFGAP3 0 genome.wustl.edu 37 22 43213780 43213780 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 22 43213780 43213780 T - DEL ARFGAP3 ENST00000263245 human ensembl 74_37 -1 known frame_shift_del c.896 p.N299fs 0.002 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP3 HGNC ENSG00000242247 191 0 0 134 33 19.7605 TBC1D23 0 genome.wustl.edu 37 3 100039736 100039736 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 100039736 100039736 A - DEL TBC1D23 ENST00000394144 human ensembl 74_37 +1 known frame_shift_del c.1939 p.K649fs 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_Rhodanese-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Rhodanese-like_dom - no_errors TBC1D23 HGNC ENSG00000036054 41 0 0 22 19 46.3415 ZBTB20 0 genome.wustl.edu 37 3 114058003 114058003 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 114058003 114058003 G - DEL ZBTB20 ENST00000474710 human ensembl 74_37 -1 known frame_shift_del c.2075 p.P692fs 0.678 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ENSG00000181722 100 0 0 87 30 25.641 ARHGAP31 0 genome.wustl.edu 37 3 119133295 119133295 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 119133295 119133295 C - DEL ARHGAP31 ENST00000264245 human ensembl 74_37 +1 known frame_shift_del c.2519 p.P841fs 0.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 115 0 0 86 8 8.51064 EAF2 0 genome.wustl.edu 37 3 121573659 121573659 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 121573659 121573659 A - DEL EAF2 ENST00000273668 human ensembl 74_37 +1 known frame_shift_del c.327 p.T112fs 0.970 pfam_Tscrpt_elong_fac_Eaf_N pfam_Tscrpt_elong_fac_Eaf_N - no_errors EAF2 HGNC ENSG00000145088 54 0 0 46 14 23.3333 HEG1 0 genome.wustl.edu 37 3 124731960 124731961 + Frame_Shift_Del DEL CT CT - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 124731960 124731961 CT - DEL HEG1 ENST00000311127 human ensembl 74_37 -1 known frame_shift_del c.2463_2462 p.E821fs 0.009:0.875 NULL pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HEG1 HGNC ENSG00000173706 188 0 0 136 40 22.7273 PLXNA1 0 genome.wustl.edu 37 3 126735391 126735391 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 126735391 126735391 C - DEL PLXNA1 ENST00000393409 human ensembl 74_37 +1 known frame_shift_del c.3046 p.Q1019fs 0.981 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA1 HGNC ENSG00000114554 125 0 0 71 49 40.8333 PODXL2 0 genome.wustl.edu 37 3 127379415 127379417 + In_Frame_Del DEL GAG GAG - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 127379415 127379417 GAG - DEL PODXL2 ENST00000342480 human ensembl 74_37 +1 known in_frame_del c.544_546 p.E185in_frame_del 0.230:0.241:0.216 NULL pfam_CD34/Podocalyxin - no_errors PODXL2 HGNC ENSG00000114631 113 0 0 92 31 25.2033 PLXND1 0 genome.wustl.edu 37 3 129303234 129303235 + Frame_Shift_Ins INS - - G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 129303234 129303235 - G INS PLXND1 ENST00000324093 human ensembl 74_37 -1 known frame_shift_ins c.2023_2022 p.N674fs 0.000:0.000 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXND1 HGNC ENSG00000004399 133 1 0.746269 101 35 25.7353 IQSEC1 0 genome.wustl.edu 37 3 12977614 12977614 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 12977614 12977614 G - DEL IQSEC1 ENST00000273221 human ensembl 74_37 -1 known frame_shift_del c.944 p.P315fs 0.987 NULL pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC1 HGNC ENSG00000144711 141 0 0 98 32 24.6154 ACPP 0 genome.wustl.edu 37 3 132036365 132036365 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 132036365 132036365 T - DEL ACPP ENST00000351273 human ensembl 74_37 +1 known frame_shift_del c.65 p.F24fs 0.943 NULL pfam_His_Pase_superF_clade-2 - no_errors ACPP HGNC ENSG00000014257 65 0 0 52 14 21.2121 AMOTL2 0 genome.wustl.edu 37 3 134079020 134079021 + Frame_Shift_Ins INS - - G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 134079020 134079021 - G INS AMOTL2 ENST00000249883 human ensembl 74_37 -1 known frame_shift_ins c.1811_1810 p.Q604fs 1.000:0.997 pfam_Angiomotin_C pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL2 HGNC ENSG00000114019 37 0 0 37 8 17.7778 EPHB1 0 genome.wustl.edu 37 3 134670328 134670328 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 134670328 134670328 G - DEL EPHB1 ENST00000398015 human ensembl 74_37 +1 known frame_shift_del c.239 p.A82fs 0.965 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB1 HGNC ENSG00000154928 43 0 0 29 6 17.1429 GK5 0 genome.wustl.edu 37 3 141923492 141923492 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 141923492 141923492 A - DEL GK5 ENST00000487672 human ensembl 74_37 -1 known frame_shift_del c.456 p.L153fs 0.000 NULL pfam_Carb_kinase_FGGY_N - no_errors GK5 HGNC ENSG00000175066 31 0 0 16 15 48.3871 PLSCR1 0 genome.wustl.edu 37 3 146234963 146234964 + RNA DEL AA AA - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 146234963 146234964 AA - DEL PLSCR1 ENST00000484560 human ensembl 74_37 -1 putative rna NULL NULL 0.163:0.236 - - - no_errors PLSCR1 HGNC ENSG00000188313 43 0 0 22 15 40.5405 DHX36 0 genome.wustl.edu 37 3 154032978 154032978 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 154032978 154032978 T - DEL DHX36 ENST00000496811 human ensembl 74_37 -1 known frame_shift_del c.460 p.M154fs 0.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX36 HGNC ENSG00000174953 27 0 0 23 6 20.6897 IFT80 0 genome.wustl.edu 37 3 160156368 160156368 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 160156368 160156368 T - DEL IFT80 ENST00000483754 human ensembl 74_37 -1 known frame_shift_del c.604 p.S202fs 0.000 NULL pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RP11-432B6.3 Clone_based_vega_gene ENSG00000248710 63 0 0 43 26 37.6812 SI 0 genome.wustl.edu 37 3 164781250 164781250 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 164781250 164781250 A - DEL SI ENST00000264382 human ensembl 74_37 -1 known frame_shift_del c.887 p.L296fs 1.000 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 76 0 0 75 17 18.4783 BCHE 0 genome.wustl.edu 37 3 165547558 165547560 + In_Frame_Del DEL CAA CAA - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 CAA CAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 165547558 165547560 CAA - DEL BCHE ENST00000264381 human ensembl 74_37 -1 known in_frame_del c.1264_1262 p.V421in_frame_del 0.940:0.689:0.705 pfam_CarbesteraseB,prints_Cholinesterase pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC ENSG00000114200 112 0 0 78 23 22.7723 LRRC31 0 genome.wustl.edu 37 3 169579523 169579523 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 169579523 169579523 T - DEL LRRC31 ENST00000316428 human ensembl 74_37 -1 known frame_shift_del c.254 p.K85fs 0.003 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC31 HGNC ENSG00000114248 204 0 0 117 47 28.6585 PHC3 0 genome.wustl.edu 37 3 169889138 169889138 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 169889138 169889138 A - DEL PHC3 ENST00000497658 human ensembl 74_37 -1 known frame_shift_del c.437 p.F146fs 0.001 NULL NULL - no_errors PHC3 HGNC ENSG00000173889 16 0 0 3 8 72.7273 USP13 0 genome.wustl.edu 37 3 179408081 179408081 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 179408081 179408081 T - DEL USP13 ENST00000263966 human ensembl 74_37 +1 known frame_shift_del c.347 p.L118fs 1.000 pirsf_Ubiquitinyl_hydrolase pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP13 HGNC ENSG00000058056 62 0 0 29 13 30.9524 MASP1 0 genome.wustl.edu 37 3 186953595 186953596 + Frame_Shift_Ins INS - - C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 186953595 186953596 - C INS MASP1 ENST00000296280 human ensembl 74_37 -1 known frame_shift_ins c.2064_2063 p.P689fs 0.859:1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1 - no_errors MASP1 HGNC ENSG00000127241 100 0 0 77 19 19.7917 KCNH8 0 genome.wustl.edu 37 3 19554727 19554728 + Frame_Shift_Ins INS - - C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 19554727 19554728 - C INS KCNH8 ENST00000328405 human ensembl 74_37 +1 known frame_shift_ins c.2345_2346 p.N785fs 0.511:0.020 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 151 1 0.657895 97 28 22.4 NCBP2 0 genome.wustl.edu 37 3 196664216 196664216 + RNA DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 196664216 196664216 A - DEL NCBP2 ENST00000467803 human ensembl 74_37 -1 putative rna NULL NULL 0.003 - - - no_errors NCBP2 HGNC ENSG00000114503 16 0 0 8 7 46.6667 ENSG00000232783 0 genome.wustl.edu 37 3 197838274 197838277 + RNA DEL AAAA AAAA - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 197838274 197838277 AAAA - DEL ENSG00000232783 ENST00000411596 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.001:0.001:0.001 - - - no_errors AC073135.3 Clone_based_vega_gene ENSG00000232783 18 0 0 23 6 20.6897 SGOL1 0 genome.wustl.edu 37 3 20212755 20212756 + RNA DEL AA AA - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 20212755 20212756 AA - DEL SGOL1 ENST00000460637 human ensembl 74_37 -1 putative rna NULL NULL 0.000:0.000 - - - no_errors SGOL1 HGNC ENSG00000129810 33 0 0 14 4 22.2222 ZNF385D 0 genome.wustl.edu 37 3 21552445 21552445 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 21552445 21552445 T - DEL ZNF385D ENST00000281523 human ensembl 74_37 -1 known frame_shift_del c.347 p.N116fs 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385D HGNC ENSG00000151789 116 0 0 70 26 27.0833 CLASP2 0 genome.wustl.edu 37 3 33602360 33602361 + Frame_Shift_Ins INS - - T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 33602360 33602361 - T INS CLASP2 ENST00000399362 human ensembl 74_37 -1 known frame_shift_ins c.2891_2890 p.M964fs 1.000:1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP2 HGNC ENSG00000163539 146 1 0.680272 83 25 23.1481 EPM2AIP1 0 genome.wustl.edu 37 3 37034280 37034281 + Frame_Shift_Del DEL CT CT - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 37034280 37034281 CT - DEL EPM2AIP1 ENST00000322716 human ensembl 74_37 -1 known frame_shift_del c.289_288 p.R96fs 0.020:0.014 NULL NULL - no_errors EPM2AIP1 HGNC ENSG00000178567 151 0 0 160 24 13.0435 GOLGA4 0 genome.wustl.edu 37 3 37323751 37323751 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 37323751 37323751 A - DEL GOLGA4 ENST00000361924 human ensembl 74_37 +1 known frame_shift_del c.465 p.K156fs 0.979 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC ENSG00000144674 91 0 0 57 21 26.9231 ZKSCAN7 0 genome.wustl.edu 37 3 44611909 44611909 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 44611909 44611909 A - DEL ZKSCAN7 ENST00000273320 human ensembl 74_37 +1 known frame_shift_del c.1307 p.K437fs 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN7 HGNC ENSG00000196345 62 0 0 39 15 27.7778 CELSR3 0 genome.wustl.edu 37 3 48684307 48684307 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 48684307 48684307 G - DEL CELSR3 ENST00000544264 human ensembl 74_37 -1 known frame_shift_del c.7199 p.P2400fs 0.003 pfam_DUF3497 pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 20 0 0 15 4 21.0526 BSN 0 genome.wustl.edu 37 3 49688111 49688112 + Frame_Shift_Ins INS - - C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 49688111 49688112 - C INS BSN ENST00000296452 human ensembl 74_37 +1 known frame_shift_ins c.1585_1586 p.L531fs 0.068:0.096 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 246 0 0 207 45 17.8571 MST1 0 genome.wustl.edu 37 3 49722906 49722906 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 49722906 49722906 G - DEL MST1 ENST00000449682 human ensembl 74_37 -1 known frame_shift_del c.1421 p.P474fs 0.969 superfamily_Kringle-like pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors MST1 HGNC ENSG00000173531 67 0 0 72 13 15.2941 DOCK3 0 genome.wustl.edu 37 3 51417604 51417604 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 51417604 51417604 C - DEL DOCK3 ENST00000266037 human ensembl 74_37 +1 known frame_shift_del c.5549 p.P1852fs 0.115 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 54 0 0 59 8 11.9403 FLNB 0 genome.wustl.edu 37 3 58089788 58089788 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 58089788 58089788 G - DEL FLNB ENST00000295956 human ensembl 74_37 +1 known frame_shift_del c.1586 p.G531fs 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 FLNB HGNC ENSG00000136068 97 0 0 84 25 22.9358 ATXN7 0 genome.wustl.edu 37 3 63981832 63981832 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 63981832 63981832 C - DEL ATXN7 ENST00000398590 human ensembl 74_37 +1 known frame_shift_del c.2334 p.T781fs 0.705 NULL pfam_SCA7_dom - no_errors ATXN7 HGNC ENSG00000163635 120 0 0 62 11 15.0685 ADAMTS9 0 genome.wustl.edu 37 3 64527284 64527285 + Frame_Shift_Ins INS - - G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 64527284 64527285 - G INS ADAMTS9 ENST00000498707 human ensembl 74_37 -1 known frame_shift_ins c.5210_5209 p.Q1737fs 1.000:1.000 pfam_Pept_M12B_GON-ADAMTSs,pfscan_Pept_M12B_GON-ADAMTSs pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS9 HGNC ENSG00000163638 126 0 0 97 18 15.6522 EPHA3 0 genome.wustl.edu 37 3 89259454 89259454 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 89259454 89259454 A - DEL EPHA3 ENST00000336596 human ensembl 74_37 +1 known frame_shift_del c.598 p.K201fs 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA3 HGNC ENSG00000044524 198 0 0 123 33 21.1538 CRYBG3 0 genome.wustl.edu 37 3 97661233 97661233 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 3 97661233 97661233 A - DEL CRYBG3 ENST00000182096 human ensembl 74_37 +1 known frame_shift_del c.2926 p.N977fs 0.943 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBG3 HGNC ENSG00000080200 123 0 0 97 30 23.622 SCLT1 0 genome.wustl.edu 37 4 129864163 129864163 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 129864163 129864163 T - DEL SCLT1 ENST00000281142 human ensembl 74_37 -1 known frame_shift_del c.1620 p.A541fs 1.000 NULL NULL - no_errors SCLT1 HGNC ENSG00000151466 95 0 0 64 15 18.9873 CPEB2 0 genome.wustl.edu 37 4 15067858 15067858 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 15067858 15067858 T - DEL CPEB2 ENST00000538197 human ensembl 74_37 +1 known frame_shift_del c.2959 p.C989fs 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB2 HGNC ENSG00000137449 120 0 0 109 32 22.695 FHDC1 0 genome.wustl.edu 37 4 153864507 153864507 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 153864507 153864507 T - DEL FHDC1 ENST00000260008 human ensembl 74_37 +1 known frame_shift_del c.298 p.W102fs 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,smart_FH2_Formin - no_errors FHDC1 HGNC ENSG00000137460 250 0 0 175 55 23.913 KIAA0922 0 genome.wustl.edu 37 4 154525352 154525353 + Frame_Shift_Del DEL AC AC - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 154525352 154525353 AC - DEL KIAA0922 ENST00000409959 human ensembl 74_37 +1 known frame_shift_del c.3188_3189 p.T1064fs 0.016:0.002 NULL pfam_DUF3651_TMEM131 - no_errors KIAA0922 HGNC ENSG00000121210 85 0 0 59 23 28.0488 FGG 0 genome.wustl.edu 37 4 155526202 155526202 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 155526202 155526202 T - DEL FGG ENST00000336098 human ensembl 74_37 -1 known frame_shift_del c.1146 p.A383fs 0.737 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FGG HGNC ENSG00000171557 87 0 0 65 17 20.7317 MAP9 0 genome.wustl.edu 37 4 156273869 156273869 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 156273869 156273869 T - DEL MAP9 ENST00000311277 human ensembl 74_37 -1 known frame_shift_del c.1700 p.K567fs 1.000 NULL NULL - no_errors MAP9 HGNC ENSG00000164114 16 0 0 22 7 24.1379 FAM198B 0 genome.wustl.edu 37 4 159091486 159091487 + In_Frame_Ins INS - - GCT TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 159091486 159091487 - GCT INS FAM198B ENST00000393807 human ensembl 74_37 -1 known in_frame_ins c.924_923 p.309in_frame_insA 0.001:0.033 NULL NULL - no_errors FAM198B HGNC ENSG00000164125 54 0 0 51 10 16.3934 TAPT1-AS1 0 genome.wustl.edu 37 4 16258121 16258121 + RNA DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 16258121 16258121 T - DEL TAPT1-AS1 ENST00000570786 human ensembl 74_37 +1 known rna NULL NULL 0.968 - - - no_errors TAPT1-AS1 HGNC ENSG00000263327 48 0 0 26 7 21.2121 DDX60 0 genome.wustl.edu 37 4 169173785 169173785 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 169173785 169173785 T - DEL DDX60 ENST00000393743 human ensembl 74_37 -1 known frame_shift_del c.3580 p.T1194fs 0.000 superfamily_P-loop_NTPase pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60 HGNC ENSG00000137628 162 0 0 108 23 17.5573 DDX60 0 genome.wustl.edu 37 4 169182016 169182016 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 169182016 169182016 A - DEL DDX60 ENST00000393743 human ensembl 74_37 -1 known frame_shift_del c.3398 p.L1133fs 0.961 superfamily_P-loop_NTPase pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60 HGNC ENSG00000137628 67 0 0 54 14 20.5882 NEK1 0 genome.wustl.edu 37 4 170428203 170428203 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 170428203 170428203 T - DEL NEK1 ENST00000507142 human ensembl 74_37 -1 known frame_shift_del c.1992 p.V665fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK1 HGNC ENSG00000137601 14 0 0 17 7 29.1667 CLCN3 0 genome.wustl.edu 37 4 170618379 170618379 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 170618379 170618379 T - DEL CLCN3 ENST00000347613 human ensembl 74_37 +1 known frame_shift_del c.1057 p.F354fs 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-3 - no_errors CLCN3 HGNC ENSG00000109572 98 0 0 75 7 8.53659 HAND2 0 genome.wustl.edu 37 4 174450159 174450159 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 174450159 174450159 C - DEL HAND2 ENST00000359562 human ensembl 74_37 -1 known frame_shift_del c.282 p.P95fs 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors HAND2 HGNC ENSG00000164107 43 0 0 28 8 22.2222 QDPR 0 genome.wustl.edu 37 4 17492351 17492351 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 17492351 17492351 G - DEL QDPR ENST00000281243 human ensembl 74_37 -1 known frame_shift_del c.563 p.P188fs 0.982 NULL pfam_DH_sc/Rdtase_SDR - no_errors QDPR HGNC ENSG00000151552 43 0 0 28 7 20 ENSG00000253917 0 genome.wustl.edu 37 4 3923361 3923361 + RNA DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 3923361 3923361 G - DEL ENSG00000253917 ENST00000514073 human ensembl 74_37 -1 known rna NULL NULL 0.471 - - - no_errors AC226119.5 Clone_based_vega_gene ENSG00000253917 15 0 0 22 5 18.5185 TECRL 0 genome.wustl.edu 37 4 65180474 65180474 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 65180474 65180474 A - DEL TECRL ENST00000381210 human ensembl 74_37 -1 known frame_shift_del c.443 p.L148fs 1.000 NULL pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C - no_errors TECRL HGNC ENSG00000205678 22 0 0 27 8 22.8571 NPFFR2 0 genome.wustl.edu 37 4 73013327 73013327 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 73013327 73013327 A - DEL NPFFR2 ENST00000308744 human ensembl 74_37 +1 known frame_shift_del c.1367 p.R458fs 0.492 prints_NPFF_rcpt_2 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPFF_rcpt_2,prints_NPFF_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPFFR2 HGNC ENSG00000056291 101 0 0 85 27 24.1071 CCDC158 0 genome.wustl.edu 37 4 77274363 77274364 + Frame_Shift_Ins INS - - T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 77274363 77274364 - T INS CCDC158 ENST00000388914 human ensembl 74_37 -1 known frame_shift_ins c.2358_2357 p.N786fs 1.000:1.000 NULL superfamily_Prefoldin - no_errors CCDC158 HGNC ENSG00000163749 61 0 0 40 4 9.09091 AFAP1-AS1 0 genome.wustl.edu 37 4 7776640 7776640 + RNA DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 7776640 7776640 A - DEL AFAP1-AS1 ENST00000608442 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AFAP1-AS1 HGNC ENSG00000272620 104 1 0.952381 85 30 26.087 THAP9 0 genome.wustl.edu 37 4 83838382 83838382 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 83838382 83838382 T - DEL THAP9 ENST00000302236 human ensembl 74_37 +1 known frame_shift_del c.1017 p.F341fs 0.996 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP9 HGNC ENSG00000168152 172 0 0 109 37 25.3425 GAK 0 genome.wustl.edu 37 4 884355 884355 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 4 884355 884355 G - DEL GAK ENST00000314167 human ensembl 74_37 -1 known frame_shift_del c.1046 p.P349fs 0.018 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_Kinase-like_dom,superfamily_DnaJ_domain,superfamily_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_DnaJ_domain,pfscan_Prot_kinase_dom,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain - no_errors GAK HGNC ENSG00000178950 24 0 0 26 7 21.2121 SLC12A7 0 genome.wustl.edu 37 5 1085355 1085356 + Frame_Shift_Ins INS - - G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 1085355 1085356 - G INS SLC12A7 ENST00000264930 human ensembl 74_37 -1 known frame_shift_ins c.909_908 p.D304fs 0.018:0.983 prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A7 HGNC ENSG00000113504 41 0 0 33 8 19.5122 SRFBP1 0 genome.wustl.edu 37 5 121356130 121356130 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 121356130 121356130 A - DEL SRFBP1 ENST00000339397 human ensembl 74_37 +1 known frame_shift_del c.700 p.N236fs 0.000 NULL pfam_Bud-site_select_BUD22 - no_errors SRFBP1 HGNC ENSG00000151304 102 0 0 82 18 18 LMNB1 0 genome.wustl.edu 37 5 126168434 126168436 + In_Frame_Del DEL GAG GAG - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 126168434 126168436 GAG - DEL LMNB1 ENST00000261366 human ensembl 74_37 +1 known in_frame_del c.1660_1662 p.E557in_frame_del 1.000:0.962:0.038 NULL pfam_IF,pfam_Lamin_tail_dom - no_errors LMNB1 HGNC ENSG00000113368 118 0 0 75 10 11.7647 TXNDC15 0 genome.wustl.edu 37 5 134231959 134231960 + RNA INS - - T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 134231959 134231960 - T INS TXNDC15 ENST00000506350 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.003 - - - no_errors TXNDC15 HGNC ENSG00000113621 66 0 0 51 13 20.3125 DNAH5 0 genome.wustl.edu 37 5 13701408 13701409 + Frame_Shift_Ins INS - - A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 13701408 13701409 - A INS DNAH5 ENST00000265104 human ensembl 74_37 -1 known frame_shift_ins c.13476_13475 p.L4492fs 1.000:1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 128 0 0 97 28 22.4 WDR55 0 genome.wustl.edu 37 5 140049102 140049102 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 140049102 140049102 A - DEL WDR55 ENST00000358337 human ensembl 74_37 +1 known frame_shift_del c.1015 p.K341fs 1.000 pirsf_WD_repeat_p55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p55,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR55 HGNC ENSG00000120314 52 0 0 34 10 22.7273 FCHSD1 0 genome.wustl.edu 37 5 141026156 141026156 + RNA DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 141026156 141026156 C - DEL FCHSD1 ENST00000523856 human ensembl 74_37 -1 known rna NULL NULL 0.535 - - - no_errors FCHSD1 HGNC ENSG00000197948 27 0 0 17 5 22.7273 ARAP3 0 genome.wustl.edu 37 5 141052870 141052870 + RNA DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 141052870 141052870 G - DEL ARAP3 ENST00000524066 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors ARAP3 HGNC ENSG00000120318 31 0 0 23 5 17.8571 SPRY4 0 genome.wustl.edu 37 5 141694154 141694154 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 141694154 141694154 G - DEL SPRY4 ENST00000344120 human ensembl 74_37 -1 known frame_shift_del c.589 p.R197fs 1.000 pfam_Sprouty pfam_Sprouty - no_errors SPRY4 HGNC ENSG00000187678 184 0 0 128 28 17.9487 YIPF5 0 genome.wustl.edu 37 5 143543785 143543785 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 143543785 143543785 T - DEL YIPF5 ENST00000274496 human ensembl 74_37 -1 known frame_shift_del c.319 p.T107fs 1.000 pfam_Yip1 pfam_Yip1 - no_errors YIPF5 HGNC ENSG00000145817 71 0 0 57 8 12.3077 PPARGC1B 0 genome.wustl.edu 37 5 149210339 149210341 + In_Frame_Del DEL CTC CTC - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 149210339 149210341 CTC - DEL PPARGC1B ENST00000309241 human ensembl 74_37 +1 known in_frame_del c.475_477 p.L161in_frame_del 1.000:1.000:1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1B HGNC ENSG00000155846 244 0 0 188 41 17.9039 TIMD4 0 genome.wustl.edu 37 5 156349159 156349159 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 156349159 156349159 G - DEL TIMD4 ENST00000274532 human ensembl 74_37 -1 known frame_shift_del c.963 p.S322fs 0.003 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors TIMD4 HGNC ENSG00000145850 64 0 0 43 9 17.3077 SPDL1 0 genome.wustl.edu 37 5 169015404 169015404 + RNA DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 169015404 169015404 A - DEL SPDL1 ENST00000510751 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SPDL1 HGNC ENSG00000040275 34 0 0 24 5 17.2414 ADAMTS2 0 genome.wustl.edu 37 5 178559313 178559313 + Splice_Site DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 178559313 178559313 T - DEL ADAMTS2 ENST00000251582 human ensembl 74_37 -1 known splice_site_del c.2210-2 e15-2 0.999 - - - no_errors ADAMTS2 HGNC ENSG00000087116 46 0 0 38 11 22.449 CDH10 0 genome.wustl.edu 37 5 24509853 24509853 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 24509853 24509853 A - DEL CDH10 ENST00000264463 human ensembl 74_37 -1 known frame_shift_del c.1078 p.Y360fs 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH10 HGNC ENSG00000040731 73 0 0 49 8 14.0351 CDH6 0 genome.wustl.edu 37 5 31317806 31317806 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 31317806 31317806 A - DEL CDH6 ENST00000265071 human ensembl 74_37 +1 known frame_shift_del c.1657 p.N554fs 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH6 HGNC ENSG00000113361 125 0 0 115 21 15.4412 IL7R 0 genome.wustl.edu 37 5 35874637 35874637 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 35874637 35874637 A - DEL IL7R ENST00000303115 human ensembl 74_37 +1 known frame_shift_del c.793 p.R267fs 0.967 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3 - no_errors IL7R HGNC ENSG00000168685 89 0 0 84 6 6.66667 SKP2 0 genome.wustl.edu 37 5 36170454 36170455 + Frame_Shift_Ins INS - - A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 36170454 36170455 - A INS SKP2 ENST00000274255 human ensembl 74_37 +1 known frame_shift_ins c.680_681 p.N229fs 0.944:0.010 smart_Leu-rich_rpt_Cys-con_subtyp pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors SKP2 HGNC ENSG00000145604 70 0 0 60 4 6.25 NNT 0 genome.wustl.edu 37 5 43619173 43619173 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 43619173 43619173 T - DEL NNT ENST00000264663 human ensembl 74_37 +1 known frame_shift_del c.639 p.F215fs 0.010 pfam_AlaDH/PNT_NAD(H)-bd,tigrfam_NADP_transhyd_a pfam_NADH_DH_b,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N,tigrfam_NADP_transhyd_a - no_errors NNT HGNC ENSG00000112992 65 0 0 35 8 18.6047 ITGA2 0 genome.wustl.edu 37 5 52358665 52358666 + Frame_Shift_Del DEL AC AC - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 52358665 52358666 AC - DEL ITGA2 ENST00000296585 human ensembl 74_37 +1 known frame_shift_del c.1508_1509 p.T504fs 0.999:0.175 smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA2 HGNC ENSG00000164171 172 0 0 119 26 17.931 FLJ33360 0 genome.wustl.edu 37 5 6312457 6312457 + RNA DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 6312457 6312457 A - DEL FLJ33360 ENST00000507444 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CTD-2324F15.2 Clone_based_vega_gene ENSG00000250490 9 0 0 5 5 50 ERBB2IP 0 genome.wustl.edu 37 5 65344603 65344603 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 65344603 65344603 A - DEL ERBB2IP ENST00000284037 human ensembl 74_37 +1 known frame_shift_del c.1897 p.D635fs 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors ERBB2IP HGNC ENSG00000112851 43 0 0 17 4 19.0476 BDP1 0 genome.wustl.edu 37 5 70805906 70805906 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 70805906 70805906 A - DEL BDP1 ENST00000358731 human ensembl 74_37 +1 known frame_shift_del c.2987 p.N997fs 0.000 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 120 0 0 64 27 29.6703 MSH3 0 genome.wustl.edu 37 5 79970915 79970915 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 5 79970915 79970915 A - DEL MSH3 ENST00000265081 human ensembl 74_37 +1 known frame_shift_del c.1141 p.K383fs 0.982 pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mmatch_repair_MutS_con_dom pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH3 HGNC ENSG00000113318 122 0 0 77 45 36.8852 CCNC 0 genome.wustl.edu 37 6 100006296 100006297 + Frame_Shift_Del DEL AA AA - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 100006296 100006297 AA - DEL CCNC ENST00000482541 human ensembl 74_37 -1 putative frame_shift_del c.423_422 p.F141fs 0.007:0.028 superfamily_Cyclin-like pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNC HGNC ENSG00000112237 23 0 0 15 15 50 ASCC3 0 genome.wustl.edu 37 6 101296505 101296506 + Frame_Shift_Del DEL AC AC - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 101296505 101296506 AC - DEL ASCC3 ENST00000369162 human ensembl 74_37 -1 known frame_shift_del c.320_319 p.V107fs 1.000:0.936 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 75 0 0 44 10 18.5185 GRIK2 0 genome.wustl.edu 37 6 102503432 102503432 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 102503432 102503432 A - DEL GRIK2 ENST00000421544 human ensembl 74_37 +1 known frame_shift_del c.2539 p.N849fs 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK2 HGNC ENSG00000164418 123 0 0 72 47 39.4958 TMEM14B 0 genome.wustl.edu 37 6 10756864 10756865 + RNA DEL AA AA - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 10756864 10756865 AA - DEL TMEM14B ENST00000486421 human ensembl 74_37 +1 known rna NULL NULL 0.005:0.015 - - - no_errors TMEM14B HGNC ENSG00000137210 16 0 0 4 4 50 AK9 0 genome.wustl.edu 37 6 109850222 109850222 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 109850222 109850222 T - DEL AK9 ENST00000424296 human ensembl 74_37 -1 known frame_shift_del c.3625 p.R1209fs 0.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Adenylate_kin,pfam_YHS_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors AK9 HGNC ENSG00000155085 42 0 0 54 5 8.47458 REV3L 0 genome.wustl.edu 37 6 111696939 111696940 + Frame_Shift_Ins INS - - A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 111696939 111696940 - A INS REV3L ENST00000358835 human ensembl 74_37 -1 known frame_shift_ins c.2619_2618 p.L873fs 0.048:0.065 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 71 0 0 62 20 24.3902 TUBE1 0 genome.wustl.edu 37 6 112393106 112393106 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 112393106 112393106 T - DEL TUBE1 ENST00000368662 human ensembl 74_37 -1 known frame_shift_del c.1268 p.K423fs 1.000 superfamily_Tub_FtsZ_C,prints_Epsilon_tubulin,prints_Tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Epsilon_tubulin,prints_Tubulin - no_errors TUBE1 HGNC ENSG00000074935 59 0 0 49 18 26.8657 HIVEP1 0 genome.wustl.edu 37 6 12122471 12122472 + Frame_Shift_Ins INS - - C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 12122471 12122472 - C INS HIVEP1 ENST00000379388 human ensembl 74_37 +1 known frame_shift_ins c.2443_2444 p.T817fs 1.000:1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 179 0 0 115 36 23.8411 TBC1D32 0 genome.wustl.edu 37 6 121563431 121563431 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 121563431 121563431 G - DEL TBC1D32 ENST00000275159 human ensembl 74_37 -1 putative frame_shift_del c.2073 p.G693fs 0.998 NULL superfamily_Rab-GTPase-TBC_dom - no_errors TBC1D32 HGNC ENSG00000146350 65 0 0 54 9 14.2857 TBC1D32 0 genome.wustl.edu 37 6 121629187 121629188 + Frame_Shift_Del DEL CA CA - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 121629187 121629188 CA - DEL TBC1D32 ENST00000275159 human ensembl 74_37 -1 putative frame_shift_del c.625_624 p.C208fs 1.000:1.000 NULL superfamily_Rab-GTPase-TBC_dom - no_errors TBC1D32 HGNC ENSG00000146350 65 0 0 30 9 23.0769 RNF217 0 genome.wustl.edu 37 6 125284072 125284072 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 125284072 125284072 C - DEL RNF217 ENST00000521654 human ensembl 74_37 +1 novel frame_shift_del c.382 p.G130fs 0.992 NULL pfam_Znf_C6HC,smart_Znf_C6HC - no_errors RNF217 HGNC ENSG00000146373 52 0 0 36 11 23.4043 RNF146 0 genome.wustl.edu 37 6 127608767 127608767 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 127608767 127608767 G - DEL RNF146 ENST00000368314 human ensembl 74_37 +1 known frame_shift_del c.1009 p.G338fs 1.000 NULL pfam_WWE-dom,smart_Znf_RING,smart_WWE-dom_subgr,pfscan_WWE-dom,pfscan_Znf_RING - no_errors RNF146 HGNC ENSG00000118518 124 0 0 79 26 24.7619 MED23 0 genome.wustl.edu 37 6 131921295 131921295 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 131921295 131921295 A - DEL MED23 ENST00000368058 human ensembl 74_37 -1 known frame_shift_del c.2121 p.F707fs 1.000 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC ENSG00000112282 41 0 0 30 9 23.0769 MED23 0 genome.wustl.edu 37 6 131948470 131948472 + RNA DEL AAA AAA - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 131948470 131948472 AAA - DEL MED23 ENST00000489888 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.004:0.006 - - - no_errors MED23 HGNC ENSG00000112282 44 0 0 20 14 41.1765 PHACTR1 0 genome.wustl.edu 37 6 13206134 13206135 + Frame_Shift_Ins INS - - G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 13206134 13206135 - G INS PHACTR1 ENST00000379350 human ensembl 74_37 +1 known frame_shift_ins c.752_753 p.P254fs 0.246:0.087 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR1 HGNC ENSG00000112137 125 0 0 88 37 29.6 IFNGR1 0 genome.wustl.edu 37 6 137519505 137519506 + Frame_Shift_Del DEL CT CT - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 137519505 137519506 CT - DEL IFNGR1 ENST00000367739 human ensembl 74_37 -1 known frame_shift_del c.1133_1132 p.S378fs 0.000:0.000 NULL pfam_Interferon_gamma_pox/mammal,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,prints_Interferon_gamma_rcpt_asu - no_errors IFNGR1 HGNC ENSG00000027697 148 0 0 92 20 17.8571 SHPRH 0 genome.wustl.edu 37 6 146275964 146275964 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 146275964 146275964 T - DEL SHPRH ENST00000367503 human ensembl 74_37 -1 known frame_shift_del c.495 p.E166fs 0.391 NULL pfam_SNF2_N,pfam_Histone_H1/H5_H15,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,superfamily_WW_dom,smart_Helicase_ATP-bd,smart_Histone_H1/H5_H15,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C - no_errors SHPRH HGNC ENSG00000146414 72 0 0 59 14 19.1781 ARID1B 0 genome.wustl.edu 37 6 157511329 157511329 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 157511329 157511329 G - DEL ARID1B ENST00000367148 human ensembl 74_37 +1 known frame_shift_del c.3967 p.G1324fs 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ENSG00000049618 112 0 0 78 21 21.2121 SYNJ2 0 genome.wustl.edu 37 6 158508009 158508009 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 158508009 158508009 C - DEL SYNJ2 ENST00000355585 human ensembl 74_37 +1 known frame_shift_del c.3331 p.P1113fs 1.000 NULL pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 98 0 0 64 10 13.5135 WTAP 0 genome.wustl.edu 37 6 160157395 160157395 + RNA DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 160157395 160157395 A - DEL WTAP ENST00000494513 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors WTAP HGNC ENSG00000146457 34 0 0 24 9 27.2727 WTAP 0 genome.wustl.edu 37 6 160163106 160163106 + RNA DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 160163106 160163106 T - DEL WTAP ENST00000462110 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors WTAP HGNC ENSG00000146457 20 0 0 29 6 17.1429 IGF2R 0 genome.wustl.edu 37 6 160485488 160485488 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 160485488 160485488 G - DEL IGF2R ENST00000356956 human ensembl 74_37 +1 known frame_shift_del c.3942 p.D1317fs 0.125 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 211 0 0 190 55 22.449 LPAL2 0 genome.wustl.edu 37 6 160906850 160906850 + RNA DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 160906850 160906850 T - DEL LPAL2 ENST00000335388 human ensembl 74_37 -1 known rna NULL NULL 0.272 - - - no_errors LPAL2 HGNC ENSG00000213071 450 0 0 309 77 19.9482 QKI 0 genome.wustl.edu 37 6 163899920 163899920 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 163899920 163899920 A - DEL QKI ENST00000361752 human ensembl 74_37 +1 known frame_shift_del c.394 p.K134fs 1.000 smart_KH_dom pfam_KH_dom_type_1,smart_KH_dom - no_errors QKI HGNC ENSG00000112531 84 0 0 61 17 21.7949 RBM24 0 genome.wustl.edu 37 6 17292449 17292450 + RNA DEL AA AA - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 17292449 17292450 AA - DEL RBM24 ENST00000508508 human ensembl 74_37 +1 known rna NULL NULL 0.915:0.719 - - - no_errors RBM24 HGNC ENSG00000112183 49 0 0 21 12 36.3636 HIST1H1A 0 genome.wustl.edu 37 6 26017548 26017548 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 26017548 26017548 T - DEL HIST1H1A ENST00000244573 human ensembl 74_37 -1 known frame_shift_del c.413 p.K138fs 1.000 NULL pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1A HGNC ENSG00000124610 182 0 0 121 26 17.6871 MAS1L 0 genome.wustl.edu 37 6 29455155 29455156 + Frame_Shift_Ins INS - - AC TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 29455155 29455156 - AC INS MAS1L ENST00000377127 human ensembl 74_37 -1 known frame_shift_ins c.525_524 p.L176fs 0.049:0.055 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors MAS1L HGNC ENSG00000204687 99 0 0 89 19 17.5926 HLA-J 0 genome.wustl.edu 37 6 29975966 29975967 + RNA INS - - C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 29975966 29975967 - C INS HLA-J ENST00000462773 human ensembl 74_37 +1 known rna NULL NULL 0.073:0.011 - - - no_errors HLA-J HGNC ENSG00000204622 73 0 0 33 9 21.4286 HLA-B 0 genome.wustl.edu 37 6 31323363 31323363 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 31323363 31323363 G - DEL HLA-B ENST00000412585 human ensembl 74_37 -1 known frame_shift_del c.626 p.P209fs 0.142 pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-B HGNC ENSG00000234745 252 0 0 230 64 21.7687 DDX39B 0 genome.wustl.edu 37 6 31504446 31504446 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 31504446 31504446 A - DEL DDX39B ENST00000417556 human ensembl 74_37 -1 known frame_shift_del c.492 p.F164fs 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX39B HGNC ENSG00000198563 78 0 0 71 11 13.4146 SAPCD1 0 genome.wustl.edu 37 6 31731875 31731876 + Frame_Shift_Ins INS - - C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 31731875 31731876 - C INS SAPCD1 ENST00000415669 human ensembl 74_37 +1 known frame_shift_ins c.290_291 p.L100fs 0.000:0.002 pfam_APC_dom pfam_APC_dom - no_errors SAPCD1 HGNC ENSG00000228727 105 0 0 85 24 22.0183 LSM2 0 genome.wustl.edu 37 6 31765402 31765402 + RNA DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 31765402 31765402 A - DEL LSM2 ENST00000470083 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LSM2 HGNC ENSG00000204392 51 0 0 30 6 16.6667 NELFE 0 genome.wustl.edu 37 6 31926206 31926206 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 31926206 31926206 G - DEL NELFE ENST00000375429 human ensembl 74_37 -1 known frame_shift_del c.18 p.G7fs 0.996 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors NELFE HGNC ENSG00000204356 158 0 0 121 21 14.7887 BTNL2 0 genome.wustl.edu 37 6 32364081 32364081 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 32364081 32364081 G - DEL BTNL2 ENST00000454136 human ensembl 74_37 -1 known frame_shift_del c.813 p.K272fs 0.002 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors BTNL2 HGNC ENSG00000204290 61 0 0 51 14 21.5385 HLA-DOA 0 genome.wustl.edu 37 6 32976072 32976072 + RNA DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 32976072 32976072 A - DEL HLA-DOA ENST00000467465 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors HLA-DOA HGNC ENSG00000204252 68 0 0 47 12 20.339 COL11A2 0 genome.wustl.edu 37 6 33152074 33152075 + Frame_Shift_Ins INS - - G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 33152074 33152075 - G INS COL11A2 ENST00000341947 human ensembl 74_37 -1 known frame_shift_ins c.967_966 p.T322fs 0.999:0.989 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A2 HGNC ENSG00000204248 104 0 0 66 18 21.4286 C6orf89 0 genome.wustl.edu 37 6 36867370 36867371 + Frame_Shift_Ins INS - - C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 36867370 36867371 - C INS C6orf89 ENST00000355190 human ensembl 74_37 +1 known frame_shift_ins c.171_172 p.Q60fs 0.997:0.991 NULL NULL - no_errors C6orf89 HGNC ENSG00000198663 99 0 0 74 13 14.9425 CUL9 0 genome.wustl.edu 37 6 43191022 43191023 + Frame_Shift_Del DEL AG AG - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 43191022 43191023 AG - DEL CUL9 ENST00000252050 human ensembl 74_37 +1 known frame_shift_del c.7171_7172 p.D2392fs 0.619:0.637 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 16 0 0 12 7 36.8421 GPR110 0 genome.wustl.edu 37 6 46977604 46977604 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 46977604 46977604 A - DEL GPR110 ENST00000371253 human ensembl 74_37 -1 known frame_shift_del c.1567 p.S523fs 1.000 NULL pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt - no_errors GPR110 HGNC ENSG00000153292 55 0 0 32 12 27.2727 DST 0 genome.wustl.edu 37 6 56716254 56716255 + Frame_Shift_Ins INS - - T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 56716254 56716255 - T INS DST ENST00000370754 human ensembl 74_37 -1 known frame_shift_ins c.566_565 p.R189fs 1.000:1.000 superfamily_CH-domain,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 65 0 0 51 18 26.087 SMAP1 0 genome.wustl.edu 37 6 71508370 71508370 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 71508370 71508370 A - DEL SMAP1 ENST00000370455 human ensembl 74_37 +1 known frame_shift_del c.506 p.K172fs 1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors SMAP1 HGNC ENSG00000112305 9 0 0 6 6 50 COL12A1 0 genome.wustl.edu 37 6 75797397 75797397 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 75797397 75797397 G - DEL COL12A1 ENST00000322507 human ensembl 74_37 -1 known frame_shift_del c.9077 p.P3026fs 1.000 NULL pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 119 0 0 88 19 17.757 DOPEY1 0 genome.wustl.edu 37 6 83838979 83838980 + Frame_Shift_Ins INS - - T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 83838979 83838980 - T INS DOPEY1 ENST00000349129 human ensembl 74_37 +1 known frame_shift_ins c.2093_2094 p.S700fs 0.020:0.002 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 102 0 0 73 20 21.5054 ORC3 0 genome.wustl.edu 37 6 88318838 88318838 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 88318838 88318838 A - DEL ORC3 ENST00000257789 human ensembl 74_37 +1 known frame_shift_del c.604 p.R204fs 1.000 pfam_ORC3 pfam_ORC3 - no_errors ORC3 HGNC ENSG00000135336 92 0 0 70 16 18.6047 MDN1 0 genome.wustl.edu 37 6 90432675 90432675 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 90432675 90432675 T - DEL MDN1 ENST00000369393 human ensembl 74_37 -1 known frame_shift_del c.5966 p.K1989fs 1.000 superfamily_P-loop_NTPase,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 203 2 0.97561 204 56 21.5385 MAP3K7 0 genome.wustl.edu 37 6 91226170 91226170 + RNA DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 6 91226170 91226170 A - DEL MAP3K7 ENST00000479630 human ensembl 74_37 -1 known rna NULL NULL 0.947 - - - no_errors MAP3K7 HGNC ENSG00000135341 55 0 0 27 6 18.1818 SRRT 0 genome.wustl.edu 37 7 100479331 100479332 + Frame_Shift_Ins INS - - G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 100479331 100479332 - G INS SRRT ENST00000388793 human ensembl 74_37 +1 known frame_shift_ins c.303_304 p.G104fs 0.996:1.000 NULL pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ENSG00000087087 101 0 0 76 20 20.8333 AP1S1 0 genome.wustl.edu 37 7 100802405 100802405 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 100802405 100802405 G - DEL AP1S1 ENST00000337619 human ensembl 74_37 +1 known frame_shift_del c.357 p.D122fs 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu - no_errors AP1S1 HGNC ENSG00000106367 47 0 0 47 11 18.9655 CUX1 0 genome.wustl.edu 37 7 101870783 101870784 + Frame_Shift_Ins INS - - C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 101870783 101870784 - C INS CUX1 ENST00000360264 human ensembl 74_37 +1 known frame_shift_ins c.3300_3301 p.E1101fs 0.000:0.950 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC ENSG00000257923 131 0 0 118 36 23.3766 BCAP29 0 genome.wustl.edu 37 7 107234540 107234540 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 107234540 107234540 T - DEL BCAP29 ENST00000379119 human ensembl 74_37 +1 known frame_shift_del c.334 p.W114fs 1.000 pfam_Bap31 pfam_Bap31 - no_errors BCAP29 HGNC ENSG00000075790 41 0 0 44 9 16.9811 SCIN 0 genome.wustl.edu 37 7 12680083 12680083 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 12680083 12680083 C - DEL SCIN ENST00000297029 human ensembl 74_37 +1 known frame_shift_del c.1522 p.P509fs 0.046 NULL pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors SCIN HGNC ENSG00000006747 40 0 0 14 26 65 SND1 0 genome.wustl.edu 37 7 127724828 127724828 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 127724828 127724828 C - DEL SND1 ENST00000354725 human ensembl 74_37 +1 known frame_shift_del c.2163 p.P723fs 1.000 pfam_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN pfam_Staphylococal_nuclease_OB-fold,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococal_nuclease_OB-fold,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococal_nuclease_OB-fold - no_errors SND1 HGNC ENSG00000197157 101 0 0 43 17 28.3333 C7orf49 0 genome.wustl.edu 37 7 134851448 134851448 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 134851448 134851448 C - DEL C7orf49 ENST00000393114 human ensembl 74_37 -1 known frame_shift_del c.389 p.G130fs 0.000 NULL NULL - no_errors C7orf49 HGNC ENSG00000122783 141 0 0 120 40 25 KIAA1549 0 genome.wustl.edu 37 7 138601643 138601643 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 138601643 138601643 G - DEL KIAA1549 ENST00000422774 human ensembl 74_37 -1 known frame_shift_del c.2729 p.P910fs 0.000 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 40 0 0 25 13 34.2105 EPHB6 0 genome.wustl.edu 37 7 142561448 142561448 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 142561448 142561448 G - DEL EPHB6 ENST00000392957 human ensembl 74_37 +1 known frame_shift_del c.160 p.W56fs 0.984 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB6 HGNC ENSG00000106123 102 0 0 74 15 16.8539 KMT2C 0 genome.wustl.edu 37 7 151842327 151842328 + Frame_Shift_Ins INS - - GGATTTC TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 151842327 151842328 - GGATTTC INS KMT2C ENST00000355193 human ensembl 74_37 -1 known frame_shift_ins c.14256_14255 p.L4753fs 0.974:1.000 smart_FYrich_C pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 105 0 0 105 8 7.07965 HOXA2 0 genome.wustl.edu 37 7 27140493 27140493 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 27140493 27140493 A - DEL HOXA2 ENST00000222718 human ensembl 74_37 -1 known frame_shift_del c.983 p.F328fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXA2 HGNC ENSG00000105996 125 0 0 92 32 25.8065 AEBP1 0 genome.wustl.edu 37 7 44146447 44146447 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 44146447 44146447 C - DEL AEBP1 ENST00000223357 human ensembl 74_37 +1 known frame_shift_del c.556 p.S188fs 0.004 NULL pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors AEBP1 HGNC ENSG00000106624 34 0 0 21 4 16 DAGLB 0 genome.wustl.edu 37 7 6474591 6474591 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 6474591 6474591 C - DEL DAGLB ENST00000297056 human ensembl 74_37 -1 known frame_shift_del c.480 p.M162fs 0.981 NULL pfam_Lipase_3 - no_errors DAGLB HGNC ENSG00000164535 152 1 0.653595 79 60 43.1655 MAGI2 0 genome.wustl.edu 37 7 77998478 77998480 + In_Frame_Del DEL ATA ATA - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 ATA ATA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 77998478 77998480 ATA - DEL MAGI2 ENST00000354212 human ensembl 74_37 -1 known in_frame_del c.1098_1096 p.Y366in_frame_del 1.000:1.000:1.000 pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI2 HGNC ENSG00000187391 47 0 0 47 8 14.5455 AKAP9 0 genome.wustl.edu 37 7 91732039 91732039 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 91732039 91732039 G - DEL AKAP9 ENST00000359028 human ensembl 74_37 +1 known frame_shift_del c.11241 p.Q3750fs 1.000 pfam_PACT_domain pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 281 1 0.35461 233 40 14.652 ANKIB1 0 genome.wustl.edu 37 7 91936914 91936914 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 91936914 91936914 A - DEL ANKIB1 ENST00000265742 human ensembl 74_37 +1 known frame_shift_del c.430 p.N146fs 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Znf_C6HC,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Znf_RING,smart_Znf_C6HC,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING - no_errors ANKIB1 HGNC ENSG00000001629 45 0 0 41 17 29.3103 LOC101927550 0 genome.wustl.edu 37 7 98630575 98630575 + RNA DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 7 98630575 98630575 A - DEL LOC101927550 ENST00000360902 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC004893.11 Clone_based_vega_gene ENSG00000242687 37 0 0 17 8 32 VPS13B 0 genome.wustl.edu 37 8 100050671 100050671 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 100050671 100050671 T - DEL VPS13B ENST00000358544 human ensembl 74_37 +1 known frame_shift_del c.168 p.L58fs 0.024 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 24 0 0 21 6 22.2222 POLR2K 0 genome.wustl.edu 37 8 101164033 101164033 + RNA DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 101164033 101164033 T - DEL POLR2K ENST00000519765 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors POLR2K HGNC ENSG00000147669 21 0 0 23 4 14.8148 NACAP1 0 genome.wustl.edu 37 8 102381883 102381883 + RNA DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 102381883 102381883 A - DEL NACAP1 ENST00000419462 human ensembl 74_37 +1 known rna NULL NULL 0.879 - - - no_errors NACAP1 HGNC ENSG00000228224 20 0 0 11 12 52.1739 UBR5 0 genome.wustl.edu 37 8 103289349 103289349 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 103289349 103289349 T - DEL UBR5 ENST00000520539 human ensembl 74_37 -1 known frame_shift_del c.6360 p.E2121fs 0.987 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 123 1 0.806452 98 52 34.6667 DCAF13 0 genome.wustl.edu 37 8 104439487 104439487 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 104439487 104439487 T - DEL DCAF13 ENST00000519682 human ensembl 74_37 +1 putative frame_shift_del c.619 p.F209fs 0.001 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF13 HGNC ENSG00000164934 32 0 0 36 4 10 RIMS2 0 genome.wustl.edu 37 8 104933920 104933921 + Frame_Shift_Ins INS - - A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 104933920 104933921 - A INS RIMS2 ENST00000406091 human ensembl 74_37 +1 known frame_shift_ins c.2104_2105 p.M704fs 1.000:1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 64 0 0 77 10 11.4943 XKR6 0 genome.wustl.edu 37 8 11058234 11058234 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 11058234 11058234 G - DEL XKR6 ENST00000416569 human ensembl 74_37 -1 known frame_shift_del c.615 p.M206fs 0.993 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR6 HGNC ENSG00000171044 34 0 0 48 7 12.7273 FER1L6 0 genome.wustl.edu 37 8 125080031 125080031 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 125080031 125080031 A - DEL FER1L6 ENST00000399018 human ensembl 74_37 +1 known frame_shift_del c.3702 p.G1237fs 0.152 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom - no_errors FER1L6 HGNC ENSG00000214814 33 0 0 58 6 9.375 AGO2 0 genome.wustl.edu 37 8 141554345 141554345 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 141554345 141554345 G - DEL AGO2 ENST00000220592 human ensembl 74_37 -1 known frame_shift_del c.1806 p.A603fs 0.203 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO2 HGNC ENSG00000123908 281 1 0.35461 321 50 13.4771 ZC3H3 0 genome.wustl.edu 37 8 144620415 144620415 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 144620415 144620415 G - DEL ZC3H3 ENST00000262577 human ensembl 74_37 -1 known frame_shift_del c.1122 p.S375fs 0.515 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H3 HGNC ENSG00000014164 149 0 0 167 39 18.932 GRINA 0 genome.wustl.edu 37 8 145065718 145065718 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 145065718 145065718 C - DEL GRINA ENST00000313269 human ensembl 74_37 +1 known frame_shift_del c.327 p.N112fs 0.916 NULL pfam_Bax_inhibitor_1-related - no_errors GRINA HGNC ENSG00000178719 26 0 0 23 19 45.2381 HSF1 0 genome.wustl.edu 37 8 145537589 145537589 + RNA DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 145537589 145537589 G - DEL HSF1 ENST00000528842 human ensembl 74_37 +1 putative rna NULL NULL 0.010 - - - no_errors HSF1 HGNC ENSG00000185122 77 0 0 87 18 17.1429 DGAT1 0 genome.wustl.edu 37 8 145541487 145541488 + Splice_Site INS - - G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 145541487 145541488 - G INS DGAT1 ENST00000332324 human ensembl 74_37 -1 known splice_site_ins c.856-3_856-2 e10-2 0.999:0.543 - - - no_errors DGAT1 HGNC ENSG00000185000 31 0 0 33 9 21.4286 MSR1 0 genome.wustl.edu 37 8 16012627 16012628 + Frame_Shift_Ins INS - - T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 16012627 16012628 - T INS MSR1 ENST00000262101 human ensembl 74_37 -1 known frame_shift_ins c.844_843 p.G281fs 1.000:1.000 pfam_Collagen pfam_SRCR,pfam_Macro_scav_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,superfamily_STAT_TF_coiled-coil,smart_Srcr_rcpt-rel,prints_Macro_scav_rcpt,prints_SRCR,pfscan_SRCR - no_errors MSR1 HGNC ENSG00000038945 65 0 0 62 14 18.4211 SLC7A2 0 genome.wustl.edu 37 8 17406329 17406330 + Frame_Shift_Ins INS - - A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 17406329 17406330 - A INS SLC7A2 ENST00000004531 human ensembl 74_37 +1 known frame_shift_ins c.795_796 p.N266fs 0.997:1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease - no_errors SLC7A2 HGNC ENSG00000003989 78 0 0 111 13 10.4839 MTUS1 0 genome.wustl.edu 37 8 17504627 17504628 + RNA DEL AA AA - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 17504627 17504628 AA - DEL MTUS1 ENST00000518889 human ensembl 74_37 -1 putative rna NULL NULL 0.000:0.000 - - - no_errors MTUS1 HGNC ENSG00000129422 33 0 0 42 19 31.1475 PSD3 0 genome.wustl.edu 37 8 18413785 18413785 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 18413785 18413785 G - DEL PSD3 ENST00000440756 human ensembl 74_37 -1 known frame_shift_del c.2868 p.D957fs 0.000 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors PSD3 HGNC ENSG00000156011 210 0 0 222 51 18.6813 LOXL2 0 genome.wustl.edu 37 8 23155605 23155605 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 23155605 23155605 T - DEL LOXL2 ENST00000389131 human ensembl 74_37 -1 known frame_shift_del c.2276 p.K759fs 0.994 NULL pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR - no_errors LOXL2 HGNC ENSG00000134013 59 0 0 36 7 16.2791 ENTPD4 0 genome.wustl.edu 37 8 23292044 23292045 + RNA INS - - CA TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 23292044 23292045 - CA INS ENTPD4 ENST00000522913 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors ENTPD4 HGNC ENSG00000197217 27 0 0 34 11 24.4444 DOCK5 0 genome.wustl.edu 37 8 25240190 25240190 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 25240190 25240190 A - DEL DOCK5 ENST00000276440 human ensembl 74_37 +1 known frame_shift_del c.4027 p.R1345fs 1.000 NULL pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK5 HGNC ENSG00000147459 19 0 0 7 4 36.3636 TUBBP1 0 genome.wustl.edu 37 8 30209456 30209456 + RNA DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 30209456 30209456 A - DEL TUBBP1 ENST00000518096 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors TUBBP1 HGNC ENSG00000127589 27 0 0 21 6 22.2222 KCNU1 0 genome.wustl.edu 37 8 36768517 36768518 + Frame_Shift_Ins INS - - C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 36768517 36768518 - C INS KCNU1 ENST00000399881 human ensembl 74_37 +1 known frame_shift_ins c.2401_2402 p.P804fs 0.083:0.116 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu - no_errors KCNU1 HGNC ENSG00000215262 115 0 0 132 20 13.1579 GINS4 0 genome.wustl.edu 37 8 41397247 41397247 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 41397247 41397247 G - DEL GINS4 ENST00000276533 human ensembl 74_37 +1 known frame_shift_del c.348 p.E118fs 0.251 pfam_GINS_complex,pirsf_GINS_Sld5 pfam_GINS_complex,pirsf_GINS_Sld5 - no_errors GINS4 HGNC ENSG00000147536 105 0 0 118 21 15.1079 ENSG00000253389 0 genome.wustl.edu 37 8 41519208 41519209 + RNA DEL GA GA - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 41519208 41519209 GA - DEL ENSG00000253389 ENST00000520418 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001 - - - no_errors RP11-930P14.1 Clone_based_vega_gene ENSG00000253389 99 0 0 71 18 20.2247 IKBKB 0 genome.wustl.edu 37 8 42176208 42176208 + RNA DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 42176208 42176208 T - DEL IKBKB ENST00000522785 human ensembl 74_37 +1 known rna NULL NULL 0.111 - - - no_errors IKBKB HGNC ENSG00000104365 44 0 0 45 13 22.4138 RB1CC1 0 genome.wustl.edu 37 8 53569839 53569839 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 53569839 53569839 T - DEL RB1CC1 ENST00000025008 human ensembl 74_37 -1 known frame_shift_del c.2550 p.V851fs 1.000 NULL pfam_Autophagy-rel_p11 - no_errors RB1CC1 HGNC ENSG00000023287 49 0 0 33 9 21.4286 RP1 0 genome.wustl.edu 37 8 55533979 55533979 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 55533979 55533979 C - DEL RP1 ENST00000220676 human ensembl 74_37 +1 known frame_shift_del c.453 p.P153fs 0.069 smart_Doublecortin_dom pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 121 0 0 155 30 16.2162 MCPH1 0 genome.wustl.edu 37 8 6479066 6479067 + Frame_Shift_Ins INS - - C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 6479066 6479067 - C INS MCPH1 ENST00000344683 human ensembl 74_37 +1 known frame_shift_ins c.2306_2307 p.V772fs 0.874:0.878 superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom,prints_BRCA1 pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom,prints_BRCA1 - no_errors MCPH1 HGNC ENSG00000147316 87 0 0 117 18 13.3333 CYP7B1 0 genome.wustl.edu 37 8 65509466 65509466 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 65509466 65509466 A - DEL CYP7B1 ENST00000310193 human ensembl 74_37 -1 known frame_shift_del c.1254 p.F418fs 0.701 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 - no_errors CYP7B1 HGNC ENSG00000172817 35 0 0 32 9 21.9512 SGK3 0 genome.wustl.edu 37 8 67716612 67716612 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 67716612 67716612 A - DEL SGK3 ENST00000345714 human ensembl 74_37 +1 known frame_shift_del c.183 p.K63fs 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Phox,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Phox,pfscan_Prot_kinase_dom - no_errors SGK3 HGNC ENSG00000104205 53 0 0 44 8 15.3846 ARFGEF1 0 genome.wustl.edu 37 8 68128855 68128856 + Frame_Shift_Ins INS - - G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 68128855 68128856 - G INS ARFGEF1 ENST00000262215 human ensembl 74_37 -1 known frame_shift_ins c.4656_4655 p.P1553fs 0.000:0.000 NULL pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF1 HGNC ENSG00000066777 91 0 0 75 8 9.63855 TRPA1 0 genome.wustl.edu 37 8 72958791 72958792 + Frame_Shift_Ins INS - - T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 72958791 72958792 - T INS TRPA1 ENST00000262209 human ensembl 74_37 -1 known frame_shift_ins c.2018_2017 p.T673fs 0.000:0.001 NULL pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 48 0 0 94 15 13.7615 TRPA1 0 genome.wustl.edu 37 8 72958792 72958792 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 72958792 72958792 T - DEL TRPA1 ENST00000262209 human ensembl 74_37 -1 known frame_shift_del c.2017 p.T673fs 0.001 NULL pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 48 0 0 93 16 14.6789 E2F5 0 genome.wustl.edu 37 8 86127123 86127123 + RNA DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 86127123 86127123 A - DEL E2F5 ENST00000519128 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors E2F5 HGNC ENSG00000133740 8 0 0 5 3 37.5 CNGB3 0 genome.wustl.edu 37 8 87645015 87645015 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 87645015 87645015 A - DEL CNGB3 ENST00000320005 human ensembl 74_37 -1 known frame_shift_del c.1285 p.S429fs 0.003 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB3 HGNC ENSG00000170289 32 0 0 31 6 16.2162 ESRP1 0 genome.wustl.edu 37 8 95686611 95686611 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 95686611 95686611 A - DEL ESRP1 ENST00000433389 human ensembl 74_37 +1 known frame_shift_del c.1528 p.N512fs 1.000 smart_RRM_dom superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ESRP1 HGNC ENSG00000104413 77 0 0 79 7 8.13953 SNORA72 0 genome.wustl.edu 37 8 99054504 99054504 + RNA DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 99054504 99054504 T - DEL SNORA72 ENST00000501016 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors KB-1208A12.3 Clone_based_vega_gene ENSG00000245970 18 0 0 13 6 31.5789 SNORA72 0 genome.wustl.edu 37 8 99054837 99054838 + RNA DEL AA AA - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 8 99054837 99054838 AA - DEL SNORA72 ENST00000501016 human ensembl 74_37 +1 known rna NULL NULL 0.049:0.047 - - - no_errors KB-1208A12.3 Clone_based_vega_gene ENSG00000245970 45 0 0 35 19 35.1852 SMC2 0 genome.wustl.edu 37 9 106885501 106885501 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 106885501 106885501 A - DEL SMC2 ENST00000286398 human ensembl 74_37 +1 known frame_shift_del c.2245 p.T751fs 0.998 superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC2 HGNC ENSG00000136824 45 0 0 47 20 29.8507 FKBP15 0 genome.wustl.edu 37 9 115941002 115941002 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 115941002 115941002 T - DEL FKBP15 ENST00000238256 human ensembl 74_37 -1 known frame_shift_del c.1994 p.K665fs 1.000 superfamily_Regulat_G_prot_signal_superfam pfam_PPIase_FKBP_dom,superfamily_Regulat_G_prot_signal_superfam,pfscan_PPIase_FKBP_dom - no_errors FKBP15 HGNC ENSG00000119321 22 0 0 14 8 36.3636 PRPF4 0 genome.wustl.edu 37 9 116045260 116045261 + RNA INS - - A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 116045260 116045261 - A INS PRPF4 ENST00000488937 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors PRPF4 HGNC ENSG00000136875 22 0 0 11 4 26.6667 POLE3 0 genome.wustl.edu 37 9 116172488 116172489 + RNA INS - - C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 116172488 116172489 - C INS POLE3 ENST00000475080 human ensembl 74_37 -1 known rna NULL NULL 0.996:0.127 - - - no_errors POLE3 HGNC ENSG00000148229 40 0 0 28 9 24.3243 ZNF618 0 genome.wustl.edu 37 9 116812464 116812464 + RNA DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 116812464 116812464 A - DEL ZNF618 ENST00000470105 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors ZNF618 HGNC ENSG00000157657 83 0 0 53 41 43.617 MVB12B 0 genome.wustl.edu 37 9 129243627 129243627 + RNA DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 129243627 129243627 T - DEL MVB12B ENST00000485886 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MVB12B HGNC ENSG00000196814 176 0 0 133 41 23.5632 GOLGA2 0 genome.wustl.edu 37 9 131019390 131019390 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 131019390 131019390 A - DEL GOLGA2 ENST00000421699 human ensembl 74_37 -1 known frame_shift_del c.2965 p.Y989fs 1.000 NULL superfamily_CofA_tubulin-bd - no_errors GOLGA2 HGNC ENSG00000167110 197 0 0 178 53 22.9437 ASB6 0 genome.wustl.edu 37 9 132400192 132400193 + Frame_Shift_Del DEL CA CA - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 132400192 132400193 CA - DEL ASB6 ENST00000277458 human ensembl 74_37 -1 known frame_shift_del c.1143_1142 p.V381fs 0.125:0.615 pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB6 HGNC ENSG00000148331 98 0 0 78 13 14.2857 FNBP1 0 genome.wustl.edu 37 9 132678317 132678318 + RNA INS - - A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 132678317 132678318 - A INS FNBP1 ENST00000462766 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors FNBP1 HGNC ENSG00000187239 23 0 0 13 3 18.75 NUP214 0 genome.wustl.edu 37 9 134003995 134003996 + RNA DEL AA AA - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 134003995 134003996 AA - DEL NUP214 ENST00000526412 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors NUP214 HGNC ENSG00000126883 18 0 0 7 4 36.3636 ENSG00000236986 0 genome.wustl.edu 37 9 134008392 134008392 + RNA DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 134008392 134008392 T - DEL ENSG00000236986 ENST00000587264 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-544A12.4 Clone_based_vega_gene ENSG00000236986 38 0 0 20 7 25.9259 SETX 0 genome.wustl.edu 37 9 135158548 135158549 + RNA DEL AA AA - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 135158548 135158549 AA - DEL SETX ENST00000474172 human ensembl 74_37 -1 known rna NULL NULL 0.010:0.003 - - - no_errors SETX HGNC ENSG00000107290 16 0 0 8 15 65.2174 SLC2A6 0 genome.wustl.edu 37 9 136341418 136341419 + Frame_Shift_Ins INS - - C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 136341418 136341419 - C INS SLC2A6 ENST00000371899 human ensembl 74_37 -1 known frame_shift_ins c.503_502 p.A168fs 0.978:0.972 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A6 HGNC ENSG00000160326 76 0 0 75 18 19.3548 LINC00094 0 genome.wustl.edu 37 9 136899776 136899776 + RNA DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 136899776 136899776 C - DEL LINC00094 ENST00000605164 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00094 HGNC ENSG00000235106 65 0 0 45 21 31.8182 CAMSAP1 0 genome.wustl.edu 37 9 138713232 138713233 + Frame_Shift_Ins INS - - G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 138713232 138713233 - G INS CAMSAP1 ENST00000409386 human ensembl 74_37 -1 known frame_shift_ins c.3308_3307 p.R1103fs 0.819:0.823 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP1 HGNC ENSG00000130559 97 0 0 57 15 20.8333 DPP7 0 genome.wustl.edu 37 9 140006327 140006327 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 140006327 140006327 C - DEL DPP7 ENST00000371579 human ensembl 74_37 -1 known frame_shift_del c.1205 p.G402fs 0.000 pfam_Peptidase_S28 pfam_Peptidase_S28,pfam_AB_hydrolase_1 - no_errors DPP7 HGNC ENSG00000176978 40 0 0 27 9 25 PSIP1 0 genome.wustl.edu 37 9 15472612 15472613 + RNA DEL AA AA - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 15472612 15472613 AA - DEL PSIP1 ENST00000495873 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.000 - - - no_errors PSIP1 HGNC ENSG00000164985 56 0 0 51 13 20.3125 MLLT3 0 genome.wustl.edu 37 9 20363376 20363376 + RNA DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 20363376 20363376 T - DEL MLLT3 ENST00000475957 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MLLT3 HGNC ENSG00000171843 51 0 0 39 12 23.5294 IFT74 0 genome.wustl.edu 37 9 27036478 27036479 + Frame_Shift_Del DEL AA AA - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 27036478 27036479 AA - DEL IFT74 ENST00000429045 human ensembl 74_37 +1 known frame_shift_del c.1085_1086 p.N364fs 0.010:0.008 NULL NULL - no_errors IFT74 HGNC ENSG00000096872 55 0 0 26 8 23.5294 TAF1L 0 genome.wustl.edu 37 9 32633025 32633025 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 32633025 32633025 T - DEL TAF1L ENST00000242310 human ensembl 74_37 -1 known frame_shift_del c.2553 p.A852fs 1.000 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 190 0 0 125 38 23.3129 DNAJA1 0 genome.wustl.edu 37 9 33026949 33026949 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 33026949 33026949 T - DEL DNAJA1 ENST00000330899 human ensembl 74_37 +1 known frame_shift_del c.271 p.F92fs 1.000 superfamily_DnaJ_domain pfam_DnaJ_C,pfam_DnaJ_domain,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain - no_errors DNAJA1 HGNC ENSG00000086061 80 0 0 49 17 25.7576 DNAJB5 0 genome.wustl.edu 37 9 34996554 34996554 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 34996554 34996554 C - DEL DNAJB5 ENST00000454002 human ensembl 74_37 +1 known frame_shift_del c.720 p.P242fs 1.000 superfamily_HSP40/DnaJ_pept-bd pfam_DnaJ_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB5 HGNC ENSG00000137094 63 0 0 54 14 20.5882 FAM214B 0 genome.wustl.edu 37 9 35108148 35108148 + Frame_Shift_Del DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 35108148 35108148 C - DEL FAM214B ENST00000322813 human ensembl 74_37 -1 known frame_shift_del c.124 p.A42fs 0.584 NULL NULL - no_errors FAM214B HGNC ENSG00000005238 33 0 0 34 14 29.1667 JAK2 0 genome.wustl.edu 37 9 5126824 5126825 + RNA INS - - T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 5126824 5126825 - T INS JAK2 ENST00000487310 human ensembl 74_37 +1 known rna NULL NULL 0.015:0.014 - - - no_errors JAK2 HGNC ENSG00000096968 39 0 0 17 9 34.6154 VPS13A 0 genome.wustl.edu 37 9 79999547 79999548 + In_Frame_Ins INS - - TGA TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 79999547 79999548 - TGA INS VPS13A ENST00000357409 human ensembl 74_37 +1 known in_frame_ins c.9236_9237 p.3083in_frame_insD 1.000:0.999 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 49 0 0 40 11 21.5686 ENSG00000230303 0 genome.wustl.edu 37 9 88400990 88400990 + RNA DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 88400990 88400990 T - DEL ENSG00000230303 ENST00000439544 human ensembl 74_37 -1 known rna NULL NULL 0.010 - - - no_errors RP11-213G2.2 Clone_based_vega_gene ENSG00000230303 54 0 0 52 15 22.3881 NAA35 0 genome.wustl.edu 37 9 88631565 88631566 + Frame_Shift_Ins INS - - A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 88631565 88631566 - A INS NAA35 ENST00000361671 human ensembl 74_37 +1 known frame_shift_ins c.1680_1681 p.T562fs 1.000:1.000 NULL pfam_NatC_AcTrfase_Mak10 - no_errors NAA35 HGNC ENSG00000135040 52 0 0 33 9 21.4286 CDK20 0 genome.wustl.edu 37 9 90582462 90582463 + Frame_Shift_Ins INS - - G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 90582462 90582463 - G INS CDK20 ENST00000325303 human ensembl 74_37 -1 known frame_shift_ins c.956_955 p.H319fs 0.094:0.178 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK20 HGNC ENSG00000156345 8 0 0 3 3 50 ECM2 0 genome.wustl.edu 37 9 95285118 95285119 + Frame_Shift_Ins INS - - A TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 95285118 95285119 - A INS ECM2 ENST00000344604 human ensembl 74_37 -1 known frame_shift_ins c.31_30 p.L10fs 0.980:0.490 NULL pfam_Leu-rich_rpt,pfam_VWF_C,smart_VWF_C,smart_Leu-rich_rpt_typical-subtyp,pfscan_VWF_C - no_errors ECM2 HGNC ENSG00000106823 66 0 0 45 8 15.0943 PHF2 0 genome.wustl.edu 37 9 96422612 96422612 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 9 96422612 96422612 A - DEL PHF2 ENST00000359246 human ensembl 74_37 +1 known frame_shift_del c.1468 p.K492fs 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 34 0 0 19 8 29.6296 ATG4A 0 genome.wustl.edu 37 X 107395166 107395166 + RNA DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 107395166 107395166 A - DEL ATG4A ENST00000474825 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors ATG4A HGNC ENSG00000101844 28 0 0 19 4 17.3913 SLC25A14 0 genome.wustl.edu 37 X 129498774 129498774 + RNA DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 129498774 129498774 A - DEL SLC25A14 ENST00000471795 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC25A14 HGNC ENSG00000102078 15 0 0 12 7 36.8421 RBMX2 0 genome.wustl.edu 37 X 129536209 129536209 + RNA DEL C C - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 129536209 129536209 C - DEL RBMX2 ENST00000469953 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RBMX2 HGNC ENSG00000134597 17 0 0 9 10 52.6316 USP26 0 genome.wustl.edu 37 X 132161205 132161205 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 132161205 132161205 A - DEL USP26 ENST00000370832 human ensembl 74_37 -1 known frame_shift_del c.1044 p.F348fs 0.541 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP26 HGNC ENSG00000134588 38 0 0 27 16 37.2093 MAP7D3 0 genome.wustl.edu 37 X 135314194 135314194 + Frame_Shift_Del DEL G G - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 135314194 135314194 G - DEL MAP7D3 ENST00000370663 human ensembl 74_37 -1 known frame_shift_del c.868 p.Q290fs 0.000 NULL pfam_MAP7 - no_errors MAP7D3 HGNC ENSG00000129680 224 0 0 119 71 37.3684 OFD1 0 genome.wustl.edu 37 X 13787350 13787350 + RNA DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 13787350 13787350 T - DEL OFD1 ENST00000490265 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors OFD1 HGNC ENSG00000046651 20 0 0 14 7 33.3333 MAGEC3 0 genome.wustl.edu 37 X 140953263 140953263 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 140953263 140953263 A - DEL MAGEC3 ENST00000298296 human ensembl 74_37 +1 known frame_shift_del c.130 p.K45fs 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 44 0 0 43 6 12.2449 CTPS2 0 genome.wustl.edu 37 X 16609020 16609020 + RNA DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 16609020 16609020 A - DEL CTPS2 ENST00000483053 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTPS2 HGNC ENSG00000047230 31 0 0 19 13 40.625 CHDC2 0 genome.wustl.edu 37 X 36162895 36162896 + Frame_Shift_Ins INS - - T TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 36162895 36162896 - T INS CHDC2 ENST00000313548 human ensembl 74_37 +1 known frame_shift_ins c.1478_1479 p.L496fs 0.001:0.004 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain - no_errors CHDC2 HGNC ENSG00000176034 21 0 0 6 2 25 RPGR 0 genome.wustl.edu 37 X 38144935 38144935 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 38144935 38144935 T - DEL RPGR ENST00000378505 human ensembl 74_37 -1 known frame_shift_del c.3317 p.K1106fs 0.000 NULL pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC ENSG00000156313 145 0 0 71 59 45.3846 MED14 0 genome.wustl.edu 37 X 40588606 40588607 + RNA DEL AA AA - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 40588606 40588607 AA - DEL MED14 ENST00000463072 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors MED14 HGNC ENSG00000180182 9 0 0 14 5 26.3158 KDM5C 0 genome.wustl.edu 37 X 53222308 53222309 + Frame_Shift_Ins INS - - G TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 53222308 53222309 - G INS KDM5C ENST00000375401 human ensembl 74_37 -1 known frame_shift_ins c.4524_4523 p.A1509fs 0.000:0.002 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC ENSG00000126012 39 0 0 12 17 58.6207 KLF8 0 genome.wustl.edu 37 X 56291858 56291859 + Frame_Shift_Ins INS - - C TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 56291858 56291859 - C INS KLF8 ENST00000468660 human ensembl 74_37 +1 known frame_shift_ins c.327_328 p.K111fs 0.000:0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF8 HGNC ENSG00000102349 54 0 0 25 16 39.0244 FAAH2 0 genome.wustl.edu 37 X 57515386 57515387 + RNA INS - - TG TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 57515386 57515387 - TG INS FAAH2 ENST00000491179 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors FAAH2 HGNC ENSG00000165591 28 0 0 18 7 28 FAM155B 0 genome.wustl.edu 37 X 68725672 68725672 + Frame_Shift_Del DEL A A - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 X 68725672 68725672 A - DEL FAM155B ENST00000252338 human ensembl 74_37 +1 known frame_shift_del c.547 p.N185fs 0.996 NULL NULL - no_errors FAM155B HGNC ENSG00000130054 42 0 0 24 24 50 USP9Y 0 genome.wustl.edu 37 Y 14847611 14847611 + Frame_Shift_Del DEL T T - TCGA-BR-8591-01A-11D-2394-08 TCGA-BR-8591-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d807764-06c1-4711-b3ba-939e11723d45 bd35fe5b-c91a-4e25-b964-9c173673af02 Y 14847611 14847611 T - DEL USP9Y ENST00000338981 human ensembl 74_37 +1 known frame_shift_del c.723 p.F243fs 0.997 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,superfamily_Glycoside_hydrolase_SF,pfscan_Peptidase_C19/C67 - no_errors USP9Y HGNC ENSG00000114374 13 0 0 7 9 56.25