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 DVL1 0 genome.wustl.edu 37 1 1273992 1273992 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 1 1273992 1273992 C T SNP DVL1 ENST00000378888 human ensembl 74_37 -1 known missense c.1249 p.A417T 0.979 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 59 0 0 32 2 5.88235 PRAMEF14 0 genome.wustl.edu 37 1 13669309 13669309 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 1 13669309 13669309 C T SNP PRAMEF14 ENST00000344998 human ensembl 74_37 -1 known missense c.877 p.G293R 0.002 NULL NULL - no_errors PRAMEF14 HGNC ENSG00000204481 47 0 0 13 7 35 PRDM2 0 genome.wustl.edu 37 1 14107267 14107267 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 1 14107267 14107267 G A SNP PRDM2 ENST00000235372 human ensembl 74_37 +1 known missense c.2977 p.V993I 0.008 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 154 0 0 105 12 10.2564 ENSG00000234978 0 genome.wustl.edu 37 1 142803746 142803746 + RNA SNP A A G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 1 142803746 142803746 A G SNP ENSG00000234978 ENST00000423385 human ensembl 74_37 -1 known rna NULL NULL 0.030 - - - no_errors RP11-423O2.5 Clone_based_vega_gene ENSG00000234978 12 0 0 12 3 20 HIST2H3D 0 genome.wustl.edu 37 1 149785231 149785231 + Silent SNP G G C TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 1 149785231 149785231 G C SNP HIST2H3D ENST00000331491 human ensembl 74_37 -1 known silent c.6 p.A2 0.060 superfamily_Histone-fold pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST2H3D HGNC ENSG00000183598 78 0 0 43 7 14 POGZ 0 genome.wustl.edu 37 1 151378718 151378718 + Silent SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 1 151378718 151378718 C T SNP POGZ ENST00000271715 human ensembl 74_37 -1 known silent c.2793 p.P931 0.003 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 164 0 0 75 13 14.7727 INTS3 0 genome.wustl.edu 37 1 153745683 153745683 + Silent SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 1 153745683 153745683 G A SNP INTS3 ENST00000318967 human ensembl 74_37 +1 known silent c.3066 p.T1022 0.958 NULL pfam_Int_cplx_su3 - no_errors INTS3 HGNC ENSG00000143624 327 0 0 140 17 10.828 SEMA4A 0 genome.wustl.edu 37 1 156132886 156132886 + Splice_Site SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 1 156132886 156132886 G A SNP SEMA4A ENST00000355014 human ensembl 74_37 +1 known splice_site c.1134+1 e9+1 1.000 - - - no_errors SEMA4A HGNC ENSG00000196189 99 0 0 58 8 12.1212 TMEM79 0 genome.wustl.edu 37 1 156255196 156255196 + Missense_Mutation SNP A A G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 1 156255196 156255196 A G SNP TMEM79 ENST00000295694 human ensembl 74_37 +1 known missense c.179 p.E60G 0.048 NULL NULL - no_errors TMEM79 HGNC ENSG00000163472 96 0 0 43 12 21.8182 ETV3L 0 genome.wustl.edu 37 1 157068996 157068996 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 1 157068996 157068996 C T SNP ETV3L ENST00000454449 human ensembl 74_37 -1 known missense c.233 p.R78H 1.000 pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV3L HGNC ENSG00000253831 98 0 0 58 7 10.7692 FCRL2 0 genome.wustl.edu 37 1 157740399 157740399 + Missense_Mutation SNP T T G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 1 157740399 157740399 T G SNP FCRL2 ENST00000361516 human ensembl 74_37 -1 known missense c.110 p.K37T 0.000 smart_Ig_sub,smart_Ig_sub2 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL2 HGNC ENSG00000132704 82 0 0 42 8 16 FCRL6 0 genome.wustl.edu 37 1 159779472 159779472 + Missense_Mutation SNP G G T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 1 159779472 159779472 G T SNP FCRL6 ENST00000368106 human ensembl 74_37 +1 known missense c.885 p.K295N 0.000 smart_Ig_sub smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL6 HGNC ENSG00000181036 83 0 0 46 4 8 SELE 0 genome.wustl.edu 37 1 169696647 169696647 + Silent SNP C C A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 1 169696647 169696647 C A SNP SELE ENST00000333360 human ensembl 74_37 -1 known silent c.1488 p.L496 0.007 superfamily_Sushi_SCR_CCP,smart_EG-like_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_C-type_lectin,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELE HGNC ENSG00000007908 74 0 0 46 5 9.80392 CACNA1E 0 genome.wustl.edu 37 1 181727101 181727101 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 1 181727101 181727101 G A SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.4348 p.A1450T 1.000 NULL 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 184 1 0.540541 86 5 5.49451 PAX7 0 genome.wustl.edu 37 1 19062320 19062320 + Silent SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 1 19062320 19062320 C T SNP PAX7 ENST00000375375 human ensembl 74_37 +1 known silent c.1350 p.T450 0.994 NULL pfam_Paired_dom,pfam_Homeobox_dom,pfam_Pax7,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,prints_Paired_dom,pfscan_Homeobox_dom,pfscan_Paired_dom - no_errors PAX7 HGNC ENSG00000009709 229 0 0 90 5 5.26316 PRELP 0 genome.wustl.edu 37 1 203455927 203455927 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 1 203455927 203455927 G A SNP PRELP ENST00000343110 human ensembl 74_37 +1 known missense c.1067 p.R356Q 1.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors PRELP HGNC ENSG00000188783 83 0 0 58 6 9.375 LRRN2 0 genome.wustl.edu 37 1 204588700 204588700 + Missense_Mutation SNP C C G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 1 204588700 204588700 C G SNP LRRN2 ENST00000367175 human ensembl 74_37 -1 known missense c.421 p.A141P 1.000 smart_Leu-rich_rpt_typical-subtyp 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 280 0 0 99 38 27.7372 HSPG2 0 genome.wustl.edu 37 1 22199882 22199882 + Missense_Mutation SNP C C G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 1 22199882 22199882 C G SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.3779 p.G1260A 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,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 302 0 0 133 49 26.9231 OBSCN 0 genome.wustl.edu 37 1 228430947 228430947 + Missense_Mutation SNP C C G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 1 228430947 228430947 C G SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.2993 p.A998G 0.015 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 52 0 0 7 13 65 OBSCN 0 genome.wustl.edu 37 1 228434292 228434292 + Missense_Mutation SNP C C G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 1 228434292 228434292 C G SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.3821 p.A1274G 0.014 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 181 0 0 45 31 40.7895 EPHB2 0 genome.wustl.edu 37 1 23191577 23191577 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 1 23191577 23191577 G A SNP EPHB2 ENST00000400191 human ensembl 74_37 +1 known missense c.1175 p.R392H 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,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 104 0 0 54 8 12.9032 EPHB2 0 genome.wustl.edu 37 1 23233321 23233321 + Silent SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 1 23233321 23233321 C T SNP EPHB2 ENST00000400191 human ensembl 74_37 +1 known silent c.2007 p.S669 0.904 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 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 96 0 0 45 7 13.4615 KIF26B 0 genome.wustl.edu 37 1 245704126 245704126 + Silent SNP T T G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 1 245704126 245704126 T G SNP KIF26B ENST00000407071 human ensembl 74_37 +1 known silent c.1224 p.S408 0.040 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 226 0 0 106 10 8.62069 OR2W3 0 genome.wustl.edu 37 1 248059005 248059005 + Silent SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 1 248059005 248059005 C T SNP OR2W3 ENST00000360358 human ensembl 74_37 +1 known silent c.117 p.L39 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2W3 HGNC ENSG00000238243 254 0 0 121 39 24.375 OR2L13 0 genome.wustl.edu 37 1 248263219 248263219 + Missense_Mutation SNP C C A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 1 248263219 248263219 C A SNP OR2L13 ENST00000358120 human ensembl 74_37 +1 known missense c.542 p.P181Q 0.022 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 OR2L13 HGNC ENSG00000196071 282 1 0.353357 164 36 18 OR2T3 0 genome.wustl.edu 37 1 248637256 248637256 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 1 248637256 248637256 C T SNP OR2T3 ENST00000359594 human ensembl 74_37 +1 known missense c.605 p.T202M 0.000 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,prints_GPCR_Rhodpsn - no_errors OR2T3 HGNC ENSG00000196539 373 0 0 249 16 6.03774 RHD 0 genome.wustl.edu 37 1 25617155 25617155 + Missense_Mutation SNP C C A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 1 25617155 25617155 C A SNP RHD ENST00000328664 human ensembl 74_37 +1 known missense c.359 p.A120D 0.002 pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHD HGNC ENSG00000187010 164 0 0 80 11 12.0879 HMGN2 0 genome.wustl.edu 37 1 26801762 26801762 + RNA SNP G G T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 1 26801762 26801762 G T SNP HMGN2 ENST00000460563 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGN2 HGNC ENSG00000198830 9 0 0 4 8 66.6667 ARID1A 0 genome.wustl.edu 37 1 27105513 27105513 + Splice_Site SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 1 27105513 27105513 G A SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known splice_site c.5125-1 e20-1 1.000 - - - no_errors ARID1A HGNC ENSG00000117713 502 0 0 156 147 48.5149 PTPRU 0 genome.wustl.edu 37 1 29630479 29630479 + Silent SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 1 29630479 29630479 G A SNP PTPRU ENST00000345512 human ensembl 74_37 +1 known silent c.2619 p.A873 0.149 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC ENSG00000060656 124 0 0 37 13 26 ZNF362 0 genome.wustl.edu 37 1 33741707 33741707 + Silent SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 1 33741707 33741707 C T SNP ZNF362 ENST00000373428 human ensembl 74_37 +1 known silent c.45 p.A15 0.999 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF362 HGNC ENSG00000160094 139 0 0 53 5 8.62069 DFFB 0 genome.wustl.edu 37 1 3775293 3775293 + Silent SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 1 3775293 3775293 C T SNP DFFB ENST00000378209 human ensembl 74_37 +1 known silent c.126 p.R42 0.001 pfam_CIDE-N_dom,smart_CIDE-N_dom,pfscan_CIDE-N_dom pfam_Apoptosis_DFF40,pfam_CIDE-N_dom,smart_CIDE-N_dom,pfscan_CIDE-N_dom - no_errors DFFB HGNC ENSG00000169598 110 0 0 56 8 12.5 MACF1 0 genome.wustl.edu 37 1 39851472 39851472 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 1 39851472 39851472 G A SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known missense c.8029 p.E2677K 0.867 smart_Spectrin/alpha-actinin 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 115 0 0 56 4 6.66667 CHD5 0 genome.wustl.edu 37 1 6189120 6189120 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 1 6189120 6189120 G A SNP CHD5 ENST00000262450 human ensembl 74_37 -1 known missense c.3397 p.R1133C 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC ENSG00000116254 41 0 0 24 5 17.2414 FPGT-TNNI3K 0 genome.wustl.edu 37 1 74957799 74957799 + Missense_Mutation SNP A A C TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 1 74957799 74957799 A C SNP FPGT-TNNI3K ENST00000557284 human ensembl 74_37 +1 known missense c.2542 p.S848R 0.999 NULL pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FPGT-TNNI3K HGNC ENSG00000259030 347 0 0 159 49 23.5577 LRRC8C 0 genome.wustl.edu 37 1 90178606 90178606 + Silent SNP C C A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 1 90178606 90178606 C A SNP LRRC8C ENST00000370454 human ensembl 74_37 +1 known silent c.477 p.I159 1.000 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8C HGNC ENSG00000171488 175 0 0 109 21 16.1538 LRRC8D 0 genome.wustl.edu 37 1 90400677 90400677 + Nonsense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 1 90400677 90400677 C T SNP LRRC8D ENST00000337338 human ensembl 74_37 +1 known nonsense c.2050 p.R684* 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8D HGNC ENSG00000171492 130 0 0 91 6 6.18557 TGFBR3 0 genome.wustl.edu 37 1 92177810 92177810 + Missense_Mutation SNP T T C TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 1 92177810 92177810 T C SNP TGFBR3 ENST00000212355 human ensembl 74_37 -1 known missense c.2156 p.K719R 0.409 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors TGFBR3 HGNC ENSG00000069702 54 0 0 32 10 23.8095 RPAP2 0 genome.wustl.edu 37 1 92846337 92846337 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 1 92846337 92846337 G A SNP RPAP2 ENST00000610020 human ensembl 74_37 +1 known missense c.1745 p.R582Q 1.000 NULL pfam_DUF408 - no_errors RPAP2 HGNC ENSG00000122484 180 0 0 112 6 5.08475 GTPBP4 0 genome.wustl.edu 37 10 1058577 1058577 + Missense_Mutation SNP C C A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 10 1058577 1058577 C A SNP GTPBP4 ENST00000360803 human ensembl 74_37 +1 known missense c.1517 p.P506H 1.000 NULL pfam_NOG1_Rossman_fold_dom,pfam_NOG_C,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_MIRO-like,superfamily_P-loop_NTPase,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom - no_errors GTPBP4 HGNC ENSG00000107937 67 0 0 36 3 7.69231 C10orf90 0 genome.wustl.edu 37 10 128149986 128149986 + Missense_Mutation SNP C C G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 10 128149986 128149986 C G SNP C10orf90 ENST00000544758 human ensembl 74_37 -1 known missense c.1994 p.R665T 0.000 NULL NULL - no_errors C10orf90 HGNC ENSG00000154493 59 0 0 25 8 24.2424 KNDC1 0 genome.wustl.edu 37 10 135011860 135011860 + Silent SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 10 135011860 135011860 C T SNP KNDC1 ENST00000368572 human ensembl 74_37 +1 known silent c.1926 p.S642 0.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 15 0 0 4 3 42.8571 MKX 0 genome.wustl.edu 37 10 28023608 28023608 + Missense_Mutation SNP C C A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 10 28023608 28023608 C A SNP MKX ENST00000375790 human ensembl 74_37 -1 known missense c.615 p.E205D 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors MKX HGNC ENSG00000150051 185 0 0 95 13 12.037 EPC1 0 genome.wustl.edu 37 10 32576130 32576130 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 10 32576130 32576130 C T SNP EPC1 ENST00000263062 human ensembl 74_37 -1 known missense c.1048 p.A350T 1.000 NULL pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N - no_errors EPC1 HGNC ENSG00000120616 146 0 0 78 10 11.3636 ARID5B 0 genome.wustl.edu 37 10 63851485 63851485 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 10 63851485 63851485 G A SNP ARID5B ENST00000279873 human ensembl 74_37 +1 known missense c.2263 p.V755I 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID5B HGNC ENSG00000150347 217 0 0 116 9 7.2 PTEN 0 genome.wustl.edu 37 10 89717672 89717672 + Nonsense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 10 89717672 89717672 C T SNP PTEN ENST00000371953 human ensembl 74_37 +1 known nonsense c.697 p.R233* 0.984 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 146 1 0.680272 79 16 16.8421 DNTT 0 genome.wustl.edu 37 10 98079101 98079101 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 10 98079101 98079101 C T SNP DNTT ENST00000371174 human ensembl 74_37 +1 known missense c.461 p.A154V 0.881 superfamily_DNA_pol_b-like_N,pirsf_TdT/Mu pfam_DNA_pol_lambd_fingers_domain,pfam_BRCT_dom,pfam_Nucleotidyltransferase,superfamily_DNA_pol_b-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DNA-dir_DNA_pol_X,pirsf_TdT/Mu,pfscan_BRCT_dom,prints_TdT/Mu,prints_DNA_pol_X,prints_DNA_pol_X_beta-like - no_errors DNTT HGNC ENSG00000107447 296 1 0.3367 157 10 5.98802 EXOSC1 0 genome.wustl.edu 37 10 99196230 99196230 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 10 99196230 99196230 C T SNP EXOSC1 ENST00000370902 human ensembl 74_37 -1 known missense c.560 p.R187Q 1.000 NULL pfam_EXOSC1,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1 - no_errors EXOSC1 HGNC ENSG00000171311 254 0 0 129 10 7.19424 PDGFD 0 genome.wustl.edu 37 11 103866942 103866942 + Nonsense_Mutation SNP C C A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 11 103866942 103866942 C A SNP PDGFD ENST00000393158 human ensembl 74_37 -1 known nonsense c.361 p.E121* 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_PDGF/VEGF_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_PDGF/VEGF_dom - no_errors PDGFD HGNC ENSG00000170962 77 0 0 60 13 17.8082 DDI1 0 genome.wustl.edu 37 11 103908214 103908214 + Missense_Mutation SNP A A T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 11 103908214 103908214 A T SNP DDI1 ENST00000302259 human ensembl 74_37 +1 known missense c.664 p.N222Y 1.000 pfam_Peptidase_aspartic_DDI1-type 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 340 0 0 113 8 6.61157 AMPD3 0 genome.wustl.edu 37 11 10526171 10526171 + Missense_Mutation SNP A A G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 11 10526171 10526171 A G SNP AMPD3 ENST00000396553 human ensembl 74_37 +1 known missense c.2092 p.R698G 0.997 pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD3 HGNC ENSG00000133805 232 0 0 110 9 7.56303 ANKK1 0 genome.wustl.edu 37 11 113268051 113268051 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 11 113268051 113268051 G A SNP ANKK1 ENST00000303941 human ensembl 74_37 +1 known missense c.944 p.R315H 0.000 NULL pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors ANKK1 HGNC ENSG00000170209 46 0 0 26 3 10.3448 NXPE1 0 genome.wustl.edu 37 11 114401135 114401135 + Missense_Mutation SNP C C A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 11 114401135 114401135 C A SNP NXPE1 ENST00000424269 human ensembl 74_37 -1 known missense c.595 p.G199C 0.993 pfam_NXPH/NXPE pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE1 HGNC ENSG00000095110 124 0 0 70 4 5.40541 BACE1 0 genome.wustl.edu 37 11 117161234 117161234 + Nonsense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 11 117161234 117161234 G A SNP BACE1 ENST00000313005 human ensembl 74_37 -1 known nonsense c.1234 p.R412* 1.000 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Pept_A1_BACE,prints_Pept_A1_BACE1,prints_Aspartic_peptidase - no_errors BACE1 HGNC ENSG00000186318 84 0 0 40 5 11.1111 IL10RA 0 genome.wustl.edu 37 11 117860290 117860290 + Missense_Mutation SNP C C A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 11 117860290 117860290 C A SNP IL10RA ENST00000227752 human ensembl 74_37 +1 known missense c.322 p.H108N 0.000 superfamily_Fibronectin_type3 superfamily_Fibronectin_type3 - no_errors IL10RA HGNC ENSG00000110324 98 0 0 43 11 20.3704 ROBO3 0 genome.wustl.edu 37 11 124747173 124747173 + Silent SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 11 124747173 124747173 G A SNP ROBO3 ENST00000397801 human ensembl 74_37 +1 known silent c.2814 p.P938 0.988 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,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 ROBO3 HGNC ENSG00000154134 236 0 0 100 13 11.5044 SOX6 0 genome.wustl.edu 37 11 16007846 16007846 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 11 16007846 16007846 C T SNP SOX6 ENST00000352083 human ensembl 74_37 -1 known missense c.2087 p.R696H 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX6 HGNC ENSG00000110693 302 1 0.330033 162 14 7.95455 USH1C 0 genome.wustl.edu 37 11 17542436 17542436 + Silent SNP T T G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 11 17542436 17542436 T G SNP USH1C ENST00000005226 human ensembl 74_37 -1 known silent c.1191 p.V397 0.001 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors USH1C HGNC ENSG00000006611 634 1 0.15748 300 67 18.2561 UEVLD 0 genome.wustl.edu 37 11 18579822 18579822 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 11 18579822 18579822 G A SNP UEVLD ENST00000396197 human ensembl 74_37 -1 known missense c.668 p.T223M 0.000 pfam_Lactate/malate_DH_N pfam_UEV_N,pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Lactate_DH/Glyco_Ohase_4_C,prints_L-lactate/malate_DH - no_errors UEVLD HGNC ENSG00000151116 105 0 0 68 7 9.33333 SPTY2D1 0 genome.wustl.edu 37 11 18636447 18636447 + Silent SNP G G T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 11 18636447 18636447 G T SNP SPTY2D1 ENST00000336349 human ensembl 74_37 -1 known silent c.1374 p.P458 0.000 NULL pfam_Chromatin_SPT2,smart_Chromatin_SPT2 - no_errors SPTY2D1 HGNC ENSG00000179119 107 0 0 69 9 11.5385 HTATIP2 0 genome.wustl.edu 37 11 20398124 20398124 + Splice_Site SNP A A G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 11 20398124 20398124 A G SNP HTATIP2 ENST00000419348 human ensembl 74_37 +1 known splice_site c.406-2 e4-2 1.000 - - - no_errors HTATIP2 HGNC ENSG00000109854 197 0 0 98 13 11.7117 RPL26P30 0 genome.wustl.edu 37 11 2356952 2356952 + RNA SNP C C A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 11 2356952 2356952 C A SNP RPL26P30 ENST00000602923 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RPL26P30 HGNC ENSG00000236264 261 0 0 114 21 15.5556 TRPM5 0 genome.wustl.edu 37 11 2432908 2432908 + Missense_Mutation SNP A A T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 11 2432908 2432908 A T SNP TRPM5 ENST00000452833 human ensembl 74_37 -1 known missense c.2570 p.I857K 1.000 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors TRPM5 HGNC ENSG00000070985 154 0 0 55 14 20.2899 KCNA4 0 genome.wustl.edu 37 11 30033696 30033696 + Missense_Mutation SNP C C A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 11 30033696 30033696 C A SNP KCNA4 ENST00000328224 human ensembl 74_37 -1 known missense c.530 p.R177L 0.997 superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA4 HGNC ENSG00000182255 101 0 0 45 14 23.7288 LMO2 0 genome.wustl.edu 37 11 33880991 33880991 + Missense_Mutation SNP A A C TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 11 33880991 33880991 A C SNP LMO2 ENST00000257818 human ensembl 74_37 -1 known missense c.595 p.C199G 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LMO2 HGNC ENSG00000135363 87 0 0 51 4 7.27273 EXT2 0 genome.wustl.edu 37 11 44129759 44129759 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 11 44129759 44129759 G A SNP EXT2 ENST00000395673 human ensembl 74_37 +1 known missense c.596 p.R199H 1.000 pfam_Exostosin pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXT2 HGNC ENSG00000151348 68 0 0 32 5 13.5135 CHST1 0 genome.wustl.edu 37 11 45672345 45672345 + Silent SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 11 45672345 45672345 G A SNP CHST1 ENST00000308064 human ensembl 74_37 -1 known silent c.129 p.A43 0.990 pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST1 HGNC ENSG00000175264 140 0 0 46 16 25.8065 OR51E1 0 genome.wustl.edu 37 11 4674130 4674130 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 11 4674130 4674130 G A SNP OR51E1 ENST00000396952 human ensembl 74_37 +1 known missense c.374 p.R125H 1.000 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 OR51E1 HGNC ENSG00000180785 83 0 0 64 10 13.5135 FOLH1 0 genome.wustl.edu 37 11 49208318 49208318 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 11 49208318 49208318 C T SNP FOLH1 ENST00000256999 human ensembl 74_37 -1 known missense c.517 p.D173N 1.000 pfam_Protease-assoc_domain pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 149 0 0 60 6 9.09091 OR5M3 0 genome.wustl.edu 37 11 56237824 56237824 + Silent SNP A A G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 11 56237824 56237824 A G SNP OR5M3 ENST00000312240 human ensembl 74_37 -1 known silent c.150 p.S50 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M3 HGNC ENSG00000174937 188 0 0 123 7 5.38462 TNKS1BP1 0 genome.wustl.edu 37 11 57077351 57077351 + Missense_Mutation SNP G G C TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 11 57077351 57077351 G C SNP TNKS1BP1 ENST00000358252 human ensembl 74_37 -1 known missense c.2834 p.A945G 0.000 NULL NULL - no_errors TNKS1BP1 HGNC ENSG00000149115 287 0 0 136 17 11.1111 OR52L1 0 genome.wustl.edu 37 11 6008025 6008025 + Missense_Mutation SNP C C A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 11 6008025 6008025 C A SNP OR52L1 ENST00000332249 human ensembl 74_37 -1 known missense c.136 p.A46S 0.001 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52L1 HGNC ENSG00000183313 71 0 0 29 11 27.5 CDHR5 0 genome.wustl.edu 37 11 619478 619478 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 11 619478 619478 G A SNP CDHR5 ENST00000358353 human ensembl 74_37 -1 known missense c.1289 p.A430V 0.011 superfamily_Cadherin-like,pfscan_Cadherin superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin - no_errors CDHR5 HGNC ENSG00000099834 119 0 0 73 7 8.75 GANAB 0 genome.wustl.edu 37 11 62400952 62400952 + Missense_Mutation SNP C C G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 11 62400952 62400952 C G SNP GANAB ENST00000346178 human ensembl 74_37 -1 known missense c.661 p.A221P 1.000 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom - no_errors GANAB HGNC ENSG00000089597 153 0 0 70 23 24.7312 BBS1 0 genome.wustl.edu 37 11 66291009 66291009 + Missense_Mutation SNP G G T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 11 66291009 66291009 G T SNP BBS1 ENST00000419755 human ensembl 74_37 +1 known missense c.1024 p.G342C 1.000 superfamily_Quinonprotein_ADH-like_supfam superfamily_Quinonprotein_ADH-like_supfam - no_errors CTD-3074O7.11 Clone_based_vega_gene ENSG00000256349 94 0 0 52 5 8.77193 TALDO1 0 genome.wustl.edu 37 11 764847 764847 + RNA SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 11 764847 764847 G A SNP TALDO1 ENST00000532202 human ensembl 74_37 +1 putative rna NULL NULL 0.001 - - - no_errors TALDO1 HGNC ENSG00000177156 157 0 0 54 7 11.4754 MYO7A 0 genome.wustl.edu 37 11 76900480 76900480 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 11 76900480 76900480 G A SNP MYO7A ENST00000409709 human ensembl 74_37 +1 known missense c.3595 p.V1199M 1.000 pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,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_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7A HGNC ENSG00000137474 137 0 0 54 7 11.4754 NRIP3 0 genome.wustl.edu 37 11 9007342 9007342 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 11 9007342 9007342 G A SNP NRIP3 ENST00000309166 human ensembl 74_37 -1 known missense c.478 p.R160W 1.000 pfam_Peptidase_aspartic_DDI1-type,superfamily_Peptidase_aspartic_dom pfam_Peptidase_aspartic_DDI1-type,superfamily_Peptidase_aspartic_dom - no_errors NRIP3 HGNC ENSG00000175352 203 0 0 113 6 5.04202 SCUBE2 0 genome.wustl.edu 37 11 9082038 9082038 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 11 9082038 9082038 C T SNP SCUBE2 ENST00000457346 human ensembl 74_37 -1 known missense c.884 p.R295H 1.000 smart_EG-like_dom,smart_EGF-like_Ca-bd_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 212 0 0 116 13 10.0775 UTP20 0 genome.wustl.edu 37 12 101720872 101720872 + Nonsense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 12 101720872 101720872 C T SNP UTP20 ENST00000261637 human ensembl 74_37 +1 known nonsense c.3055 p.R1019* 0.998 pfam_DRIM,superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 132 0 0 77 11 12.5 CCDC60 0 genome.wustl.edu 37 12 119954458 119954458 + Missense_Mutation SNP A A G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 12 119954458 119954458 A G SNP CCDC60 ENST00000327554 human ensembl 74_37 +1 known missense c.914 p.E305G 1.000 NULL NULL - no_errors CCDC60 HGNC ENSG00000183273 106 0 0 43 6 12.2449 CLIP1 0 genome.wustl.edu 37 12 122825399 122825399 + Silent SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 12 122825399 122825399 G A SNP CLIP1 ENST00000540338 human ensembl 74_37 -1 known silent c.2352 p.S784 1.000 superfamily_Prefoldin pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain - no_errors CLIP1 HGNC ENSG00000130779 177 1 0.561798 133 21 13.6364 ATP6V0A2 0 genome.wustl.edu 37 12 124209219 124209219 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 12 124209219 124209219 G A SNP ATP6V0A2 ENST00000330342 human ensembl 74_37 +1 known missense c.313 p.E105K 1.000 pfam_V-ATPase_116kDa_su pfam_V-ATPase_116kDa_su - no_errors ATP6V0A2 HGNC ENSG00000185344 318 0 0 154 16 9.41176 P2RX2 0 genome.wustl.edu 37 12 133196038 133196038 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 12 133196038 133196038 G A SNP P2RX2 ENST00000343948 human ensembl 74_37 +1 known missense c.187 p.V63M 1.000 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X2_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX2 HGNC ENSG00000187848 186 0 0 89 15 14.4231 POLE 0 genome.wustl.edu 37 12 133237570 133237570 + Silent SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 12 133237570 133237570 G A SNP POLE ENST00000320574 human ensembl 74_37 -1 known silent c.3045 p.D1015 0.992 pfam_DNA-dir_DNA_pol_B_multi_dom pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 192 0 0 107 12 10.084 ENSG00000258325 0 genome.wustl.edu 37 12 2921819 2921819 + RNA SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 12 2921819 2921819 G A SNP ENSG00000258325 ENST00000547794 human ensembl 74_37 -1 known rna NULL NULL 0.206 - - - no_errors RP4-816N1.6 Clone_based_vega_gene ENSG00000258325 24 0 0 16 7 30.4348 FGD4 0 genome.wustl.edu 37 12 32755181 32755181 + Missense_Mutation SNP A A G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 12 32755181 32755181 A G SNP FGD4 ENST00000427716 human ensembl 74_37 +1 known missense c.923 p.N308S 0.884 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD4 HGNC ENSG00000139132 171 0 0 89 9 9.18367 SYT10 0 genome.wustl.edu 37 12 33529822 33529822 + Silent SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 12 33529822 33529822 C T SNP SYT10 ENST00000228567 human ensembl 74_37 -1 known silent c.1515 p.A505 0.720 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT10 HGNC ENSG00000110975 111 0 0 44 7 13.7255 PLEKHA8P1 0 genome.wustl.edu 37 12 45568160 45568160 + RNA SNP A A G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 12 45568160 45568160 A G SNP PLEKHA8P1 ENST00000256692 human ensembl 74_37 -1 known rna NULL NULL 0.991 - - - no_errors PLEKHA8P1 HGNC ENSG00000134297 205 2 0.966184 121 15 11.0294 KRT81 0 genome.wustl.edu 37 12 52681893 52681893 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 12 52681893 52681893 C T SNP KRT81 ENST00000327741 human ensembl 74_37 -1 known missense c.775 p.V259M 0.989 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT81 HGNC ENSG00000205426 180 0 0 77 27 25.9615 KRT75 0 genome.wustl.edu 37 12 52822136 52822136 + Missense_Mutation SNP C C G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 12 52822136 52822136 C G SNP KRT75 ENST00000252245 human ensembl 74_37 -1 known missense c.1286 p.R429P 0.997 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT75 HGNC ENSG00000170454 131 0 0 34 36 51.4286 IRAK3 0 genome.wustl.edu 37 12 66641720 66641720 + Silent SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 12 66641720 66641720 C T SNP IRAK3 ENST00000261233 human ensembl 74_37 +1 known silent c.1560 p.D520 0.010 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 198 0 0 92 18 16.3636 C1S 0 genome.wustl.edu 37 12 7177276 7177276 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 12 7177276 7177276 C T SNP C1S ENST00000328916 human ensembl 74_37 +1 known missense c.1388 p.A463V 0.971 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A 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,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors C1S HGNC ENSG00000182326 104 0 0 62 5 7.46269 CD163 0 genome.wustl.edu 37 12 7640606 7640606 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 12 7640606 7640606 C T SNP CD163 ENST00000359156 human ensembl 74_37 -1 known missense c.1498 p.G500S 1.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR - no_errors CD163 HGNC ENSG00000177575 59 0 0 32 6 15.7895 FAM90A1 0 genome.wustl.edu 37 12 8374624 8374624 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 12 8374624 8374624 G A SNP FAM90A1 ENST00000307435 human ensembl 74_37 -1 known missense c.1189 p.R397W 0.004 NULL NULL - no_errors FAM90A1 HGNC ENSG00000171847 80 0 0 26 4 13.3333 TMCC3 0 genome.wustl.edu 37 12 94976111 94976111 + Silent SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 12 94976111 94976111 C T SNP TMCC3 ENST00000261226 human ensembl 74_37 -1 known silent c.282 p.A94 0.000 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2 - no_errors TMCC3 HGNC ENSG00000057704 221 0 0 113 16 12.4031 NALCN 0 genome.wustl.edu 37 13 101712255 101712255 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 13 101712255 101712255 C T SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.4820 p.R1607Q 0.998 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 134 0 0 59 9 13.2353 COL4A2 0 genome.wustl.edu 37 13 111082904 111082904 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 13 111082904 111082904 C T SNP COL4A2 ENST00000360467 human ensembl 74_37 +1 known missense c.598 p.R200C 0.084 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A2 HGNC ENSG00000134871 231 0 0 112 14 11.1111 DCLK1 0 genome.wustl.edu 37 13 36686031 36686031 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 13 36686031 36686031 C T SNP DCLK1 ENST00000360631 human ensembl 74_37 -1 known missense c.698 p.R233H 1.000 pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_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 139 0 0 61 17 21.7949 PCDH9 0 genome.wustl.edu 37 13 67801710 67801710 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 13 67801710 67801710 C T SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known missense c.863 p.R288Q 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 162 0 0 91 11 10.7843 SLITRK5 0 genome.wustl.edu 37 13 88329874 88329874 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 13 88329874 88329874 C T SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known missense c.2231 p.P744L 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 178 0 0 64 4 5.88235 IPO5 0 genome.wustl.edu 37 13 98652834 98652834 + Missense_Mutation SNP G G T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 13 98652834 98652834 G T SNP IPO5 ENST00000261574 human ensembl 74_37 +1 known missense c.1097 p.C366F 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N - no_errors IPO5 HGNC ENSG00000065150 125 0 0 37 48 56.4706 OR11H4 0 genome.wustl.edu 37 14 20711877 20711877 + Silent SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 14 20711877 20711877 C T SNP OR11H4 ENST00000315409 human ensembl 74_37 +1 known silent c.927 p.L309 0.002 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR11H4 HGNC ENSG00000176198 149 1 0.666667 77 28 26.6667 ARHGEF40 0 genome.wustl.edu 37 14 21549161 21549161 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 14 21549161 21549161 C T SNP ARHGEF40 ENST00000298694 human ensembl 74_37 +1 known missense c.2626 p.R876C 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF40 HGNC ENSG00000165801 216 0 0 98 22 18.3333 RPGRIP1 0 genome.wustl.edu 37 14 21793997 21793997 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 14 21793997 21793997 C T SNP RPGRIP1 ENST00000206660 human ensembl 74_37 +1 known missense c.2375 p.S792L 0.060 superfamily_C2_dom pfam_DUF3250,superfamily_C2_dom - no_errors RPGRIP1 HGNC ENSG00000092200 59 0 0 39 4 9.30233 SLC22A17 0 genome.wustl.edu 37 14 23817839 23817839 + Missense_Mutation SNP G G T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 14 23817839 23817839 G T SNP SLC22A17 ENST00000206544 human ensembl 74_37 -1 known missense c.568 p.L190M 1.000 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 SLC22A17 HGNC ENSG00000092096 149 0 0 75 9 10.7143 NFATC4 0 genome.wustl.edu 37 14 24836397 24836397 + Missense_Mutation SNP G G T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 14 24836397 24836397 G T SNP NFATC4 ENST00000413692 human ensembl 74_37 +1 known missense c.137 p.G46V 0.793 NULL 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 80 0 0 54 7 11.4754 ARHGAP5 0 genome.wustl.edu 37 14 32561828 32561828 + Silent SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 14 32561828 32561828 C T SNP ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known silent c.1953 p.A651 0.880 NULL pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 236 0 0 133 20 13.0719 SNX6 0 genome.wustl.edu 37 14 35037121 35037121 + Silent SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 14 35037121 35037121 G A SNP SNX6 ENST00000362031 human ensembl 74_37 -1 known silent c.1056 p.A352 0.996 pfam_Vps5_C,pfam_BAR_dom,pirsf_Snx5_Snx6 pfam_Phox,pfam_Vps5_C,pfam_BAR_dom,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox - no_errors SNX6 HGNC ENSG00000129515 90 0 0 63 7 10 FOXA1 0 genome.wustl.edu 37 14 38061832 38061832 + Missense_Mutation SNP T T C TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 14 38061832 38061832 T C SNP FOXA1 ENST00000250448 human ensembl 74_37 -1 known missense c.157 p.M53V 1.000 pfam_Fork-head_N pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA1 HGNC ENSG00000129514 155 0 0 75 4 5.06329 HERC2 0 genome.wustl.edu 37 15 28441687 28441687 + Silent SNP A A G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 15 28441687 28441687 A G SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known silent c.8040 p.I2680 0.992 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 170 0 0 81 5 5.81395 FAN1 0 genome.wustl.edu 37 15 31197648 31197648 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 15 31197648 31197648 C T SNP FAN1 ENST00000362065 human ensembl 74_37 +1 known missense c.782 p.A261V 0.000 NULL pfam_VRR_NUC,smart_Znf_Rad18_put - no_errors FAN1 HGNC ENSG00000198690 111 0 0 54 6 10 IVD 0 genome.wustl.edu 37 15 40699950 40699950 + RNA SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 15 40699950 40699950 C T SNP IVD ENST00000490194 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors IVD HGNC ENSG00000128928 110 0 0 61 8 11.5942 SPTBN5 0 genome.wustl.edu 37 15 42145505 42145505 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 15 42145505 42145505 C T SNP SPTBN5 ENST00000320955 human ensembl 74_37 -1 known missense c.10121 p.R3374Q 0.023 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 99 0 0 34 6 15 SEMA6D 0 genome.wustl.edu 37 15 48059278 48059278 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 15 48059278 48059278 G A SNP SEMA6D ENST00000316364 human ensembl 74_37 +1 known missense c.1753 p.G585S 1.000 NULL 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 79 0 0 43 6 12.2449 DMXL2 0 genome.wustl.edu 37 15 51766637 51766637 + Missense_Mutation SNP C C A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 15 51766637 51766637 C A SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known missense c.7117 p.A2373S 1.000 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 109 1 0.909091 32 28 46.6667 LYSMD2 0 genome.wustl.edu 37 15 52017115 52017115 + Silent SNP G G T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 15 52017115 52017115 G T SNP LYSMD2 ENST00000267838 human ensembl 74_37 -1 known silent c.477 p.P159 0.956 NULL pfam_LysM_dom,smart_LysM_dom - no_errors LYSMD2 HGNC ENSG00000140280 176 0 0 137 8 5.51724 DYX1C1 0 genome.wustl.edu 37 15 55724733 55724733 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 15 55724733 55724733 C T SNP DYX1C1 ENST00000321149 human ensembl 74_37 -1 known missense c.1115 p.R372H 1.000 pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_CS_dom,superfamily_HSP20-like_chaperone,smart_TPR_repeat,pfscan_CS_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors DYX1C1 HGNC ENSG00000256061 147 0 0 71 6 7.79221 ITGA11 0 genome.wustl.edu 37 15 68649512 68649512 + Silent SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 15 68649512 68649512 C T SNP ITGA11 ENST00000315757 human ensembl 74_37 -1 known silent c.726 p.T242 0.004 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A 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 ITGA11 HGNC ENSG00000137809 103 0 0 41 6 12.766 ISLR2 0 genome.wustl.edu 37 15 74425596 74425596 + Silent SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 15 74425596 74425596 C T SNP ISLR2 ENST00000361742 human ensembl 74_37 +1 known silent c.501 p.F167 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Ig-like_dom - no_errors ISLR2 HGNC ENSG00000167178 163 0 0 83 6 6.74157 ADAMTSL3 0 genome.wustl.edu 37 15 84651760 84651760 + Missense_Mutation SNP A A G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 15 84651760 84651760 A G SNP ADAMTSL3 ENST00000286744 human ensembl 74_37 +1 known missense c.3380 p.E1127G 0.925 NULL pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 83 0 0 68 5 6.84932 ARRDC4 0 genome.wustl.edu 37 15 98514381 98514381 + Silent SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 15 98514381 98514381 C T SNP ARRDC4 ENST00000268042 human ensembl 74_37 +1 known silent c.1221 p.D407 0.000 NULL pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC4 HGNC ENSG00000140450 211 0 0 75 20 21.0526 LOC81691 0 genome.wustl.edu 37 16 20855996 20855996 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 16 20855996 20855996 G A SNP LOC81691 ENST00000261377 human ensembl 74_37 +1 known missense c.1765 p.V589M 0.093 NULL pfam_Exonuclease_RNaseT/DNA_pol3,pfam_RRM_dom,superfamily_RNaseH-like_dom,smart_Exonuclease,smart_RRM_dom,pfscan_RRM_dom - no_errors AC004381.6 Clone_based_vega_gene ENSG00000005189 129 0 0 84 7 7.69231 DNAH3 0 genome.wustl.edu 37 16 21042477 21042477 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 16 21042477 21042477 G A SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.5329 p.R1777W 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 120 0 0 59 10 14.4928 POLR3E 0 genome.wustl.edu 37 16 22319478 22319478 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 16 22319478 22319478 C T SNP POLR3E ENST00000299853 human ensembl 74_37 +1 known missense c.97 p.R33C 1.000 pfam_RNA_pol_III_Rpc5 pfam_RNA_pol_III_Rpc5 - no_errors POLR3E HGNC ENSG00000058600 123 0 0 46 7 13.2075 RBBP6 0 genome.wustl.edu 37 16 24579195 24579195 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 16 24579195 24579195 C T SNP RBBP6 ENST00000319715 human ensembl 74_37 +1 known missense c.2035 p.R679C 1.000 NULL pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC - no_errors RBBP6 HGNC ENSG00000122257 97 0 0 40 4 9.09091 SRCAP 0 genome.wustl.edu 37 16 30750774 30750774 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 16 30750774 30750774 G A SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known missense c.9413 p.R3138H 0.998 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 77 0 0 50 5 9.09091 TRIM72 0 genome.wustl.edu 37 16 31234251 31234251 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 16 31234251 31234251 C T SNP TRIM72 ENST00000322122 human ensembl 74_37 +1 known missense c.844 p.R282W 1.000 superfamily_ConA-like_lec_gl_sf,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 178 0 0 79 29 26.8519 ZNF205 0 genome.wustl.edu 37 16 3168941 3168941 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 16 3168941 3168941 G A SNP ZNF205 ENST00000219091 human ensembl 74_37 +1 known missense c.520 p.A174T 0.000 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF205 HGNC ENSG00000122386 217 0 0 80 7 8.04598 TFAP4 0 genome.wustl.edu 37 16 4312613 4312613 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 16 4312613 4312613 C T SNP TFAP4 ENST00000204517 human ensembl 74_37 -1 known missense c.179 p.R60H 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TFAP4 HGNC ENSG00000090447 182 0 0 112 12 9.67742 MYLK3 0 genome.wustl.edu 37 16 46744689 46744689 + Missense_Mutation SNP C C A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 16 46744689 46744689 C A SNP MYLK3 ENST00000394809 human ensembl 74_37 -1 known missense c.2127 p.L709F 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 MYLK3 HGNC ENSG00000140795 314 1 0.31746 105 26 19.8473 CES5A 0 genome.wustl.edu 37 16 55903586 55903586 + Missense_Mutation SNP G G T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 16 55903586 55903586 G T SNP CES5A ENST00000521992 human ensembl 74_37 -1 known missense c.575 p.A192D 1.000 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES5A HGNC ENSG00000159398 26 0 0 20 6 23.0769 CDH8 0 genome.wustl.edu 37 16 61747880 61747880 + RNA SNP A A G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 16 61747880 61747880 A G SNP CDH8 ENST00000583483 human ensembl 74_37 -1 putative rna NULL NULL 0.003 - - - no_errors CDH8 HGNC ENSG00000150394 121 0 0 63 17 21.25 SLC9A5 0 genome.wustl.edu 37 16 67290943 67290943 + Missense_Mutation SNP G G T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 16 67290943 67290943 G T SNP SLC9A5 ENST00000299798 human ensembl 74_37 +1 known missense c.1262 p.R421M 0.998 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A5 HGNC ENSG00000135740 196 0 0 125 16 11.3475 CTRL 0 genome.wustl.edu 37 16 67964638 67964638 + Silent SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 16 67964638 67964638 G A SNP CTRL ENST00000574481 human ensembl 74_37 -1 known silent c.309 p.S103 0.030 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,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 117 1 0.847458 49 15 23.4375 SF3B3 0 genome.wustl.edu 37 16 70563087 70563087 + Missense_Mutation SNP C C G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 16 70563087 70563087 C G SNP SF3B3 ENST00000302516 human ensembl 74_37 +1 known missense c.382 p.R128G 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom - no_errors SF3B3 HGNC ENSG00000189091 117 1 0.847458 43 24 35.8209 DHODH 0 genome.wustl.edu 37 16 72055196 72055196 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 16 72055196 72055196 C T SNP DHODH ENST00000219240 human ensembl 74_37 +1 known missense c.691 p.R231C 0.011 pfam_Dihydroorotate_DH_1_2,pirsf_Dihydroorotate_DH_1_2,tigrfam_Dihydroorotate_DH_2 pfam_Dihydroorotate_DH_1_2,pirsf_Dihydroorotate_DH_1_2,tigrfam_Dihydroorotate_DH_2 - no_errors DHODH HGNC ENSG00000102967 19 0 0 13 2 13.3333 CHST5 0 genome.wustl.edu 37 16 75563965 75563965 + Silent SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 16 75563965 75563965 G A SNP CHST5 ENST00000541075 human ensembl 74_37 -1 known silent c.336 p.S112 0.021 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST5 HGNC ENSG00000135702 111 0 0 51 8 13.5593 METTL22 0 genome.wustl.edu 37 16 8722947 8722947 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 16 8722947 8722947 C T SNP METTL22 ENST00000381920 human ensembl 74_37 +1 known missense c.494 p.P165L 0.000 NULL pfam_Nicotinamide_N-MeTfrase-like - no_errors METTL22 HGNC ENSG00000067365 598 0 0 264 22 7.69231 SLC7A5 0 genome.wustl.edu 37 16 87870208 87870208 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 16 87870208 87870208 C T SNP SLC7A5 ENST00000261622 human ensembl 74_37 -1 known missense c.1186 p.V396I 1.000 pfam_AA-permease/SLC12A_dom,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 76 0 0 33 4 10.8108 MC1R 0 genome.wustl.edu 37 16 89986277 89986277 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 16 89986277 89986277 C T SNP MC1R ENST00000555147 human ensembl 74_37 +1 known missense c.611 p.A204V 0.938 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Melancort_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MSH_rcpt,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC1R HGNC ENSG00000258839 46 0 0 41 7 14.5833 GRIN2A 0 genome.wustl.edu 37 16 9857287 9857287 + Splice_Site SNP T T G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 16 9857287 9857287 T G SNP GRIN2A ENST00000404927 human ensembl 74_37 -1 known splice_site c.3773-2 e13-2 0.860 - - - no_errors GRIN2A HGNC ENSG00000183454 118 0 0 53 10 15.873 MYH4 0 genome.wustl.edu 37 17 10354172 10354172 + Silent SNP A A G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 10354172 10354172 A G SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known silent c.3906 p.V1302 0.960 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 145 0 0 108 8 6.89655 DNAH9 0 genome.wustl.edu 37 17 11806090 11806090 + Missense_Mutation SNP G G T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 11806090 11806090 G T SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.11461 p.A3821S 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 DNAH9 HGNC ENSG00000007174 150 0 0 75 20 21.0526 FLJ36000 0 genome.wustl.edu 37 17 21909570 21909570 + RNA SNP T T G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 21909570 21909570 T G SNP FLJ36000 ENST00000581223 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-744K17.9 Clone_based_vega_gene ENSG00000266795 9 0 0 2 3 60 SSH2 0 genome.wustl.edu 37 17 27959108 27959108 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 27959108 27959108 C T SNP SSH2 ENST00000269033 human ensembl 74_37 -1 known missense c.3023 p.R1008K 0.994 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 SSH2 HGNC ENSG00000141298 129 0 0 71 29 29 NF1 0 genome.wustl.edu 37 17 29552243 29552243 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 29552243 29552243 G A SNP NF1 ENST00000358273 human ensembl 74_37 +1 known missense c.1976 p.R659Q 1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 263 0 0 151 11 6.79012 PLXDC1 0 genome.wustl.edu 37 17 37235398 37235398 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 37235398 37235398 G A SNP PLXDC1 ENST00000315392 human ensembl 74_37 -1 known missense c.1009 p.R337C 1.000 pfam_Plexin_repeat,superfamily_Plexin-like_fold pfam_Plexin_repeat,superfamily_Plexin-like_fold - no_errors PLXDC1 HGNC ENSG00000161381 104 0 0 67 8 10.6667 CASC3 0 genome.wustl.edu 37 17 38318390 38318390 + Nonsense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 38318390 38318390 C T SNP CASC3 ENST00000264645 human ensembl 74_37 +1 known nonsense c.592 p.Q198* 1.000 pfam_Btz_dom pfam_Btz_dom - no_errors CASC3 HGNC ENSG00000108349 108 0 0 62 21 25.3012 CASC3 0 genome.wustl.edu 37 17 38319064 38319064 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 38319064 38319064 C T SNP CASC3 ENST00000264645 human ensembl 74_37 +1 known missense c.695 p.S232F 0.998 pfam_Btz_dom pfam_Btz_dom - no_errors CASC3 HGNC ENSG00000108349 95 0 0 49 13 20.9677 CASC3 0 genome.wustl.edu 37 17 38319117 38319117 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 38319117 38319117 C T SNP CASC3 ENST00000264645 human ensembl 74_37 +1 known missense c.748 p.P250S 0.959 NULL pfam_Btz_dom - no_errors CASC3 HGNC ENSG00000108349 118 0 0 58 14 19.4444 CASC3 0 genome.wustl.edu 37 17 38323756 38323756 + Silent SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 38323756 38323756 C T SNP CASC3 ENST00000264645 human ensembl 74_37 +1 known silent c.1542 p.V514 0.998 NULL pfam_Btz_dom - no_errors CASC3 HGNC ENSG00000108349 87 0 0 62 12 16.2162 CASC3 0 genome.wustl.edu 37 17 38323757 38323757 + Nonsense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 38323757 38323757 C T SNP CASC3 ENST00000264645 human ensembl 74_37 +1 known nonsense c.1543 p.Q515* 1.000 NULL pfam_Btz_dom - no_errors CASC3 HGNC ENSG00000108349 85 0 0 64 12 15.7895 CASC3 0 genome.wustl.edu 37 17 38323782 38323782 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 38323782 38323782 C T SNP CASC3 ENST00000264645 human ensembl 74_37 +1 known missense c.1568 p.S523L 1.000 NULL pfam_Btz_dom - no_errors CASC3 HGNC ENSG00000108349 93 0 0 79 13 14.1304 CASC3 0 genome.wustl.edu 37 17 38323785 38323785 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 38323785 38323785 C T SNP CASC3 ENST00000264645 human ensembl 74_37 +1 known missense c.1571 p.S524F 1.000 NULL pfam_Btz_dom - no_errors CASC3 HGNC ENSG00000108349 97 0 0 76 14 15.5556 CASC3 0 genome.wustl.edu 37 17 38323834 38323834 + Silent SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 38323834 38323834 C T SNP CASC3 ENST00000264645 human ensembl 74_37 +1 known silent c.1620 p.I540 1.000 NULL pfam_Btz_dom - no_errors CASC3 HGNC ENSG00000108349 94 0 0 71 10 12.3457 CASC3 0 genome.wustl.edu 37 17 38323862 38323862 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 38323862 38323862 C T SNP CASC3 ENST00000264645 human ensembl 74_37 +1 known missense c.1648 p.P550S 1.000 NULL pfam_Btz_dom - no_errors CASC3 HGNC ENSG00000108349 66 0 0 50 9 15.2542 CASC3 0 genome.wustl.edu 37 17 38324513 38324513 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 38324513 38324513 C T SNP CASC3 ENST00000264645 human ensembl 74_37 +1 known missense c.1808 p.P603L 1.000 NULL pfam_Btz_dom - no_errors CASC3 HGNC ENSG00000108349 254 0 0 140 22 13.5802 CASC3 0 genome.wustl.edu 37 17 38324586 38324586 + Silent SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 38324586 38324586 C T SNP CASC3 ENST00000264645 human ensembl 74_37 +1 known silent c.1881 p.V627 1.000 NULL pfam_Btz_dom - no_errors CASC3 HGNC ENSG00000108349 159 0 0 113 16 12.4031 CASC3 0 genome.wustl.edu 37 17 38324639 38324639 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 38324639 38324639 C T SNP CASC3 ENST00000264645 human ensembl 74_37 +1 known missense c.1934 p.P645L 1.000 NULL pfam_Btz_dom - no_errors CASC3 HGNC ENSG00000108349 122 0 0 102 9 8.10811 CASC3 0 genome.wustl.edu 37 17 38325584 38325584 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 38325584 38325584 C T SNP CASC3 ENST00000264645 human ensembl 74_37 +1 known missense c.1973 p.S658L 1.000 NULL pfam_Btz_dom - no_errors CASC3 HGNC ENSG00000108349 246 0 0 162 27 14.2857 CASC3 0 genome.wustl.edu 37 17 38325681 38325681 + Silent SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 38325681 38325681 C T SNP CASC3 ENST00000264645 human ensembl 74_37 +1 known silent c.2070 p.I690 1.000 NULL pfam_Btz_dom - no_errors CASC3 HGNC ENSG00000108349 181 0 0 118 24 16.9014 CDC6 0 genome.wustl.edu 37 17 38458232 38458232 + Missense_Mutation SNP C C G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 38458232 38458232 C G SNP CDC6 ENST00000209728 human ensembl 74_37 +1 known missense c.1662 p.I554M 1.000 pirsf_Cell_div_Cdc6/18 pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Cell_div_Cdc6/18 - no_errors CDC6 HGNC ENSG00000094804 158 0 0 85 10 10.5263 ENSG00000234477 0 genome.wustl.edu 37 17 39084647 39084647 + RNA SNP G G T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 39084647 39084647 G T SNP ENSG00000234477 ENST00000418393 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors AC004231.2 Clone_based_vega_gene ENSG00000234477 240 0 0 157 51 24.5192 KRTAP4-7 0 genome.wustl.edu 37 17 39240615 39240615 + Nonsense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 39240615 39240615 C T SNP KRTAP4-7 ENST00000391417 human ensembl 74_37 +1 known nonsense c.157 p.Q53* 0.684 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP4-7 HGNC ENSG00000240871 112 0 0 54 6 10 LOC100505782 0 genome.wustl.edu 37 17 39567653 39567653 + RNA SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 39567653 39567653 G A SNP LOC100505782 ENST00000432258 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC003958.2 Clone_based_vega_gene ENSG00000234859 40 0 0 34 5 12.8205 HAP1 0 genome.wustl.edu 37 17 39888482 39888482 + Silent SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 39888482 39888482 C T SNP HAP1 ENST00000310778 human ensembl 74_37 -1 known silent c.714 p.E238 1.000 pfam_HAP1_N pfam_HAP1_N - no_errors HAP1 HGNC ENSG00000173805 143 0 0 55 13 19.1176 HAP1 0 genome.wustl.edu 37 17 39890671 39890671 + Silent SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 39890671 39890671 C T SNP HAP1 ENST00000310778 human ensembl 74_37 -1 known silent c.216 p.S72 0.092 NULL pfam_HAP1_N - no_errors HAP1 HGNC ENSG00000173805 39 0 0 21 10 32.2581 HSPB9 0 genome.wustl.edu 37 17 40274873 40274873 + Missense_Mutation SNP A A C TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 40274873 40274873 A C SNP HSPB9 ENST00000355067 human ensembl 74_37 +1 known missense c.5 p.Q2P 1.000 NULL pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom - no_errors HSPB9 HGNC ENSG00000197723 62 0 0 29 3 9.375 HOXB5 0 genome.wustl.edu 37 17 46669802 46669802 + Silent SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 46669802 46669802 G A SNP HOXB5 ENST00000239151 human ensembl 74_37 -1 known silent c.579 p.D193 0.993 superfamily_Homeodomain-like,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXB5 HGNC ENSG00000120075 74 0 0 42 8 16 SPATA20 0 genome.wustl.edu 37 17 48628510 48628510 + Missense_Mutation SNP C C A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 48628510 48628510 C A SNP SPATA20 ENST00000006658 human ensembl 74_37 +1 known missense c.1535 p.P512H 1.000 superfamily_6-hairpin_glycosidase-like pfam_DUF255,pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like,superfamily_Thioredoxin-like_fold - no_errors SPATA20 HGNC ENSG00000006282 59 0 0 16 11 40.7407 CACNA1G 0 genome.wustl.edu 37 17 48701418 48701418 + Missense_Mutation SNP C C A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 48701418 48701418 C A SNP CACNA1G ENST00000359106 human ensembl 74_37 +1 known missense c.6211 p.L2071I 0.457 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 80 0 0 45 8 15.0943 USP6 0 genome.wustl.edu 37 17 5048857 5048857 + Missense_Mutation SNP T T C TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 5048857 5048857 T C SNP USP6 ENST00000250066 human ensembl 74_37 +1 known missense c.2150 p.M717T 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19/C67 - no_errors USP6 HGNC ENSG00000129204 124 0 0 57 7 10.9375 KIF2B 0 genome.wustl.edu 37 17 51901324 51901324 + Silent SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 51901324 51901324 G A SNP KIF2B ENST00000268919 human ensembl 74_37 +1 known silent c.930 p.T310 0.357 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2B HGNC ENSG00000141200 124 0 0 81 20 19.802 DGKE 0 genome.wustl.edu 37 17 54923170 54923170 + Missense_Mutation SNP G G T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 54923170 54923170 G T SNP DGKE ENST00000284061 human ensembl 74_37 +1 known missense c.744 p.Q248H 1.000 pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKE HGNC ENSG00000153933 79 0 0 43 5 10.4167 EPX 0 genome.wustl.edu 37 17 56272519 56272519 + Nonsense_Mutation SNP C C A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 56272519 56272519 C A SNP EPX ENST00000225371 human ensembl 74_37 +1 known nonsense c.789 p.C263* 1.000 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 EPX HGNC ENSG00000121053 128 0 0 63 19 23.1707 SCN4A 0 genome.wustl.edu 37 17 62041068 62041068 + Missense_Mutation SNP T T C TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 62041068 62041068 T C SNP SCN4A ENST00000435607 human ensembl 74_37 -1 known missense c.1570 p.S524G 0.924 prints_Na_channel_a4su pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 29 0 0 21 4 16 TRIM47 0 genome.wustl.edu 37 17 73871176 73871176 + Silent SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 73871176 73871176 G A SNP TRIM47 ENST00000254816 human ensembl 74_37 -1 known silent c.1305 p.D435 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM47 HGNC ENSG00000132481 135 0 0 60 7 10.4478 MGAT5B 0 genome.wustl.edu 37 17 74878309 74878309 + Silent SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 74878309 74878309 C T SNP MGAT5B ENST00000428789 human ensembl 74_37 +1 known silent c.291 p.D97 0.808 NULL superfamily_PyrdxlP-dep_Trfase - no_errors MGAT5B HGNC ENSG00000167889 54 0 0 26 10 27.7778 DNAH17 0 genome.wustl.edu 37 17 76490732 76490732 + Silent SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 76490732 76490732 G A SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known silent c.6171 p.I2057 0.972 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 231 0 0 127 21 14.1892 DNAH17-AS1 0 genome.wustl.edu 37 17 76496429 76496429 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 76496429 76496429 G A SNP DNAH17-AS1 ENST00000598378 human ensembl 74_37 +1 known missense c.361 p.G121S 1.000 NULL NULL - no_errors DNAH17-AS1 HGNC ENSG00000268470 36 0 0 16 3 15.7895 CCDC40 0 genome.wustl.edu 37 17 78013909 78013909 + Missense_Mutation SNP G G T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 78013909 78013909 G T SNP CCDC40 ENST00000397545 human ensembl 74_37 +1 known missense c.392 p.S131I 0.000 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 145 0 0 62 4 6.06061 RNF213 0 genome.wustl.edu 37 17 78360611 78360611 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 78360611 78360611 G A SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.14842 p.V4948M 0.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 85 0 0 46 7 13.2075 RPTOR 0 genome.wustl.edu 37 17 78857671 78857671 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 78857671 78857671 C T SNP RPTOR ENST00000306801 human ensembl 74_37 +1 known missense c.1741 p.L581F 1.000 pfam_HEAT,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 126 0 0 66 18 21.4286 NPLOC4 0 genome.wustl.edu 37 17 79571725 79571725 + Missense_Mutation SNP A A G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 79571725 79571725 A G SNP NPLOC4 ENST00000374747 human ensembl 74_37 -1 known missense c.683 p.F228S 1.000 pfam_NPL4_Zn-bd_put,pirsf_PolyUb_recognition_cplx_Npl4 pfam_NPL4,pfam_NPL4_Zn-bd_put,pfam_Npl4_Ub-like_dom,pirsf_PolyUb_recognition_cplx_Npl4 - no_errors NPLOC4 HGNC ENSG00000182446 40 0 0 24 2 7.69231 FASN 0 genome.wustl.edu 37 17 80044363 80044363 + Missense_Mutation SNP C C A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 80044363 80044363 C A SNP FASN ENST00000306749 human ensembl 74_37 -1 known missense c.3499 p.A1167S 0.024 NULL 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 83 0 0 29 10 25.641 CCDC57 0 genome.wustl.edu 37 17 80159471 80159471 + Missense_Mutation SNP T T A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 80159471 80159471 T A SNP CCDC57 ENST00000389641 human ensembl 74_37 -1 known missense c.350 p.Q117L 1.000 NULL NULL - no_errors CCDC57 HGNC ENSG00000176155 41 0 0 27 3 10 NARF 0 genome.wustl.edu 37 17 80445942 80445942 + Missense_Mutation SNP A A G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 80445942 80445942 A G SNP NARF ENST00000309794 human ensembl 74_37 +1 known missense c.1280 p.E427G 0.968 pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like - no_errors NARF HGNC ENSG00000141562 140 1 0.70922 76 14 15.5556 ANKRD29 0 genome.wustl.edu 37 18 21214092 21214092 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 18 21214092 21214092 C T SNP ANKRD29 ENST00000592179 human ensembl 74_37 -1 known missense c.352 p.A118T 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD29 HGNC ENSG00000154065 82 0 0 67 5 6.94444 LAMA3 0 genome.wustl.edu 37 18 21407422 21407422 + Silent SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 18 21407422 21407422 C T SNP LAMA3 ENST00000313654 human ensembl 74_37 +1 known silent c.2814 p.S938 0.299 NULL 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 87 0 0 66 5 7.04225 ZNF521 0 genome.wustl.edu 37 18 22806394 22806394 + Silent SNP G G T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 18 22806394 22806394 G T SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known silent c.1488 p.I496 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 129 0 0 71 9 11.25 DCC 0 genome.wustl.edu 37 18 51013255 51013255 + Silent SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 18 51013255 51013255 G A SNP DCC ENST00000442544 human ensembl 74_37 +1 known silent c.3825 p.P1275 0.828 pfam_Neogenin_C pfam_Neogenin_C,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 DCC HGNC ENSG00000187323 194 0 0 96 7 6.79612 SERPINB12 0 genome.wustl.edu 37 18 61223522 61223522 + Silent SNP T T C TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 18 61223522 61223522 T C SNP SERPINB12 ENST00000269491 human ensembl 74_37 +1 known silent c.130 p.L44 0.030 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB12 HGNC ENSG00000166634 280 0 0 192 15 7.24638 CNDP2 0 genome.wustl.edu 37 18 72180886 72180886 + Missense_Mutation SNP G G T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 18 72180886 72180886 G T SNP CNDP2 ENST00000324262 human ensembl 74_37 +1 known missense c.835 p.D279Y 0.005 pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1 pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1 - no_errors CNDP2 HGNC ENSG00000133313 160 0 0 89 5 5.31915 MBP 0 genome.wustl.edu 37 18 74692266 74692266 + RNA SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 18 74692266 74692266 G A SNP MBP ENST00000578715 human ensembl 74_37 -1 putative rna NULL NULL 0.001 - - - no_errors MBP HGNC ENSG00000197971 78 0 0 51 9 15 ATP9B 0 genome.wustl.edu 37 18 77096644 77096644 + Missense_Mutation SNP G G C TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 18 77096644 77096644 G C SNP ATP9B ENST00000426216 human ensembl 74_37 +1 known missense c.2045 p.R682P 0.832 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 ATP9B HGNC ENSG00000166377 65 0 0 16 9 36 S1PR5 0 genome.wustl.edu 37 19 10625085 10625085 + Silent SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 19 10625085 10625085 G A SNP S1PR5 ENST00000333430 human ensembl 74_37 -1 known silent c.603 p.F201 0.566 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_S1P_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_EDG8_S1P_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn - no_errors S1PR5 HGNC ENSG00000180739 29 0 0 15 4 21.0526 POLR2E 0 genome.wustl.edu 37 19 1093981 1093981 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 19 1093981 1093981 G A SNP POLR2E ENST00000215587 human ensembl 74_37 -1 known missense c.154 p.R52W 1.000 pfam_RNA_pol_Rpb5_N,superfamily_RNA_pol_Rpb5_N,pirsf_DNA_RNA_pol_RPB5_euk/virus pfam_RNA_pol_subH/Rpb5_C,pfam_RNA_pol_Rpb5_N,superfamily_RNA_pol_Rpb5_N,superfamily_RNA_pol_subH/Rpb5_C,pirsf_DNA_RNA_pol_RPB5_euk/virus - no_errors POLR2E HGNC ENSG00000099817 65 0 0 30 4 11.7647 NOTCH3 0 genome.wustl.edu 37 19 15281167 15281167 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 19 15281167 15281167 C T SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known missense c.5089 p.V1697M 0.999 pirsf_Notch pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 76 0 0 34 7 17.0732 USE1 0 genome.wustl.edu 37 19 17327075 17327075 + Missense_Mutation SNP A A G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 19 17327075 17327075 A G SNP USE1 ENST00000263897 human ensembl 74_37 +1 known missense c.329 p.H110R 1.000 pfam_Vesicle_transport_protein_Use1 pfam_Vesicle_transport_protein_Use1 - no_errors USE1 HGNC ENSG00000053501 144 0 0 64 5 7.24638 SLC5A5 0 genome.wustl.edu 37 19 17983472 17983472 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 19 17983472 17983472 C T SNP SLC5A5 ENST00000222248 human ensembl 74_37 +1 known missense c.344 p.T115I 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 SLC5A5 HGNC ENSG00000105641 49 0 0 24 3 11.1111 GATAD2A 0 genome.wustl.edu 37 19 19609527 19609527 + Silent SNP A A G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 19 19609527 19609527 A G SNP GATAD2A ENST00000358713 human ensembl 74_37 +1 known silent c.1200 p.T400 0.067 NULL pfam_Znf_GATA,pfscan_Znf_GATA - no_errors GATAD2A HGNC ENSG00000167491 104 0 0 38 3 7.31707 TSSK6 0 genome.wustl.edu 37 19 19625866 19625866 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 19 19625866 19625866 C T SNP TSSK6 ENST00000360913 human ensembl 74_37 -1 known missense c.371 p.R124H 0.997 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_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TSSK6 HGNC ENSG00000178093 92 0 0 59 4 6.34921 ENSG00000267283 0 genome.wustl.edu 37 19 1989920 1989920 + RNA SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 19 1989920 1989920 C T SNP ENSG00000267283 ENST00000588480 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC005306.3 Clone_based_vega_gene ENSG00000267283 22 0 0 13 8 38.0952 ZNF626 0 genome.wustl.edu 37 19 20807757 20807757 + Missense_Mutation SNP C C A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 19 20807757 20807757 C A SNP ZNF626 ENST00000601440 human ensembl 74_37 -1 known missense c.926 p.G309V 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 ZNF626 HGNC ENSG00000188171 185 0 0 111 6 5.12821 PLEKHF1 0 genome.wustl.edu 37 19 30165559 30165559 + Silent SNP G G C TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 19 30165559 30165559 G C SNP PLEKHF1 ENST00000436066 human ensembl 74_37 +1 known silent c.813 p.G271 0.000 NULL pfam_Znf_FYVE,pfam_Pleckstrin_homology,superfamily_Znf_FYVE_PHD,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel - no_errors PLEKHF1 HGNC ENSG00000166289 26 0 0 10 4 28.5714 SIPA1L3 0 genome.wustl.edu 37 19 38572746 38572746 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 19 38572746 38572746 G A SNP SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known missense c.541 p.A181T 0.524 NULL pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L3 HGNC ENSG00000105738 109 0 0 49 8 14.0351 GRIK5 0 genome.wustl.edu 37 19 42566769 42566769 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 19 42566769 42566769 G A SNP GRIK5 ENST00000301218 human ensembl 74_37 -1 known missense c.379 p.R127C 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK5 HGNC ENSG00000105737 231 0 0 90 9 9.09091 MEGF8 0 genome.wustl.edu 37 19 42862423 42862423 + Silent SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 19 42862423 42862423 C T SNP MEGF8 ENST00000251268 human ensembl 74_37 +1 known silent c.5139 p.R1713 0.891 superfamily_Gal_Oxase/kelch_b-propeller pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 23 0 0 13 2 13.3333 SMG9 0 genome.wustl.edu 37 19 44237020 44237020 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 19 44237020 44237020 C T SNP SMG9 ENST00000270066 human ensembl 74_37 -1 known missense c.1474 p.E492K 0.999 NULL pfam_Smg8/Smg9,superfamily_P-loop_NTPase - no_errors SMG9 HGNC ENSG00000105771 136 1 0.729927 58 5 7.93651 TEAD2 0 genome.wustl.edu 37 19 49863201 49863201 + Silent SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 19 49863201 49863201 C T SNP TEAD2 ENST00000311227 human ensembl 74_37 -1 known silent c.132 p.V44 1.000 pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD2 HGNC ENSG00000074219 166 0 0 73 11 13.0952 LRRC4B 0 genome.wustl.edu 37 19 51022587 51022587 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 19 51022587 51022587 C T SNP LRRC4B ENST00000389201 human ensembl 74_37 -1 known missense c.383 p.G128D 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4B HGNC ENSG00000131409 79 0 0 38 9 19.1489 ZNF350 0 genome.wustl.edu 37 19 52469108 52469108 + Nonsense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 19 52469108 52469108 G A SNP ZNF350 ENST00000243644 human ensembl 74_37 -1 known nonsense c.598 p.R200* 0.255 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 ZNF350 HGNC ENSG00000256683 312 0 0 159 21 11.6667 ZNF415 0 genome.wustl.edu 37 19 53612518 53612518 + Silent SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 19 53612518 53612518 C T SNP ZNF415 ENST00000448501 human ensembl 74_37 -1 known silent c.924 p.A308 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2 - no_errors ZNF415 HGNC ENSG00000170954 112 0 0 66 8 10.8108 TFPT 0 genome.wustl.edu 37 19 54611352 54611352 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 19 54611352 54611352 G A SNP TFPT ENST00000391759 human ensembl 74_37 -1 known missense c.623 p.P208L 0.994 NULL NULL - no_errors TFPT HGNC ENSG00000105619 152 0 0 62 6 8.82353 PEG3 0 genome.wustl.edu 37 19 57335031 57335031 + Silent SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 19 57335031 57335031 G A SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known silent c.411 p.D137 0.054 smart_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 167 0 0 70 8 10.2564 ZIM3 0 genome.wustl.edu 37 19 57647341 57647341 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 19 57647341 57647341 C T SNP ZIM3 ENST00000269834 human ensembl 74_37 -1 known missense c.364 p.G122R 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 ZIM3 HGNC ENSG00000141946 260 0 0 159 22 12.1547 ZNF324B 0 genome.wustl.edu 37 19 58967763 58967763 + Silent SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 19 58967763 58967763 G A SNP ZNF324B ENST00000336614 human ensembl 74_37 +1 known silent c.1452 p.T484 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 ZNF324B HGNC ENSG00000249471 149 0 0 67 9 11.8421 C3 0 genome.wustl.edu 37 19 6707183 6707183 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 19 6707183 6707183 C T SNP C3 ENST00000245907 human ensembl 74_37 -1 known missense c.2149 p.G717S 0.006 pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 73 0 0 32 6 15.7895 MYO1F 0 genome.wustl.edu 37 19 8620596 8620596 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 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 99 0 0 53 11 17.1875 MUC16 0 genome.wustl.edu 37 19 9054251 9054251 + Silent SNP C C G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 19 9054251 9054251 C G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.31371 p.S10457 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 27 0 0 5 16 76.1905 GPR45 0 genome.wustl.edu 37 2 105859168 105859168 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 2 105859168 105859168 G A SNP GPR45 ENST00000258456 human ensembl 74_37 +1 known missense c.853 p.V285I 0.814 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,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_GPCR_Rhodpsn - no_errors GPR45 HGNC ENSG00000135973 349 0 0 140 47 25.1337 C2orf40 0 genome.wustl.edu 37 2 106690499 106690499 + Silent SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 2 106690499 106690499 G A SNP C2orf40 ENST00000238044 human ensembl 74_37 +1 known silent c.285 p.A95 0.785 NULL NULL - no_errors C2orf40 HGNC ENSG00000119147 146 0 0 79 8 9.1954 FBLN7 0 genome.wustl.edu 37 2 112944983 112944983 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 2 112944983 112944983 C T SNP FBLN7 ENST00000331203 human ensembl 74_37 +1 known missense c.1220 p.T407M 0.964 NULL pfam_EGF-like_Ca-bd_dom,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP - no_errors FBLN7 HGNC ENSG00000144152 176 0 0 116 8 6.45161 THSD7B 0 genome.wustl.edu 37 2 137990641 137990641 + Silent SNP A A G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 2 137990641 137990641 A G SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known silent c.2088 p.V696 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 60 0 0 29 5 14.7059 STAM2 0 genome.wustl.edu 37 2 152992113 152992113 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 2 152992113 152992113 C T SNP STAM2 ENST00000263904 human ensembl 74_37 -1 known missense c.709 p.A237T 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_Ubiquitin-int_motif,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox - no_errors STAM2 HGNC ENSG00000115145 117 0 0 104 6 5.45455 TTN 0 genome.wustl.edu 37 2 179398823 179398823 + Silent SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 2 179398823 179398823 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.94815 p.G31605 0.094 pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 196 0 0 95 11 10.3774 TTN 0 genome.wustl.edu 37 2 179408275 179408275 + Missense_Mutation SNP A A G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 2 179408275 179408275 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.88721 p.V29574A 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,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 35 0 0 30 4 11.7647 TTN 0 genome.wustl.edu 37 2 179417845 179417845 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 2 179417845 179417845 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.82078 p.V27360I 1.000 pfam_Ig_I-set,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 87 0 0 62 4 6.06061 FSIP2 0 genome.wustl.edu 37 2 186678578 186678578 + Missense_Mutation SNP T T A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 2 186678578 186678578 T A SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known missense c.20401 p.F6801I 0.000 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 148 0 0 75 11 12.7907 OSR1 0 genome.wustl.edu 37 2 19552099 19552099 + Silent SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 2 19552099 19552099 G A SNP OSR1 ENST00000272223 human ensembl 74_37 -1 known silent c.738 p.L246 0.889 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors OSR1 HGNC ENSG00000143867 174 0 0 100 6 5.66038 C2orf69 0 genome.wustl.edu 37 2 200790353 200790353 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 2 200790353 200790353 G A SNP C2orf69 ENST00000319974 human ensembl 74_37 +1 known missense c.902 p.G301D 1.000 pfam_UPF0565 pfam_UPF0565 - no_errors C2orf69 HGNC ENSG00000178074 103 0 0 63 5 7.35294 CPO 0 genome.wustl.edu 37 2 207820188 207820188 + Missense_Mutation SNP T T A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 2 207820188 207820188 T A SNP CPO ENST00000272852 human ensembl 74_37 +1 known missense c.167 p.I56N 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPO HGNC ENSG00000144410 115 0 0 79 9 10.2273 IRS1 0 genome.wustl.edu 37 2 227662669 227662669 + Silent SNP A A G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 2 227662669 227662669 A G SNP IRS1 ENST00000305123 human ensembl 74_37 -1 known silent c.786 p.D262 0.780 smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors IRS1 HGNC ENSG00000169047 143 0 0 81 10 10.989 CHRND 0 genome.wustl.edu 37 2 233396134 233396134 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 2 233396134 233396134 G A SNP CHRND ENST00000258385 human ensembl 74_37 +1 known missense c.893 p.R298H 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_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRND HGNC ENSG00000135902 158 0 0 63 15 19.2308 FARP2 0 genome.wustl.edu 37 2 242375921 242375921 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 2 242375921 242375921 G A SNP FARP2 ENST00000264042 human ensembl 74_37 +1 known missense c.1126 p.V376I 0.000 pfam_FERM-adjacent pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FARP2 HGNC ENSG00000006607 160 0 0 88 8 8.33333 SOCS5 0 genome.wustl.edu 37 2 46985797 46985797 + Missense_Mutation SNP A A G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 2 46985797 46985797 A G SNP SOCS5 ENST00000306503 human ensembl 74_37 +1 known missense c.128 p.K43R 0.000 NULL pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS5 HGNC ENSG00000171150 141 0 0 45 8 15.0943 VRK2 0 genome.wustl.edu 37 2 58366924 58366924 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 2 58366924 58366924 C T SNP VRK2 ENST00000340157 human ensembl 74_37 +1 known missense c.980 p.T327I 0.693 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 VRK2 HGNC ENSG00000028116 91 0 0 55 10 15.3846 DCTN1 0 genome.wustl.edu 37 2 74598237 74598237 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 2 74598237 74598237 G A SNP DCTN1 ENST00000361874 human ensembl 74_37 -1 known missense c.712 p.R238W 1.000 NULL pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,superfamily_P-loop_NTPase,pfscan_CAP-Gly_domain - no_errors DCTN1 HGNC ENSG00000204843 638 0 0 325 24 6.87679 LRRTM1 0 genome.wustl.edu 37 2 80530368 80530368 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 2 80530368 80530368 C T SNP LRRTM1 ENST00000295057 human ensembl 74_37 -1 known missense c.577 p.G193R 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC ENSG00000162951 160 0 0 85 8 8.60215 SNX5 0 genome.wustl.edu 37 20 17928170 17928170 + Silent SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 20 17928170 17928170 G A SNP SNX5 ENST00000377759 human ensembl 74_37 -1 known silent c.1038 p.C346 1.000 pfam_Vps5_C,pirsf_Snx5_Snx6 pfam_Phox,pfam_Vps5_C,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox - no_errors SNX5 HGNC ENSG00000089006 147 0 0 72 5 6.49351 SYNDIG1 0 genome.wustl.edu 37 20 24524112 24524112 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 20 24524112 24524112 G A SNP SYNDIG1 ENST00000376862 human ensembl 74_37 +1 known missense c.379 p.E127K 1.000 NULL pfam_CD225/Dispanin_fam - no_errors SYNDIG1 HGNC ENSG00000101463 201 0 0 106 12 10.1695 XKR7 0 genome.wustl.edu 37 20 30585189 30585189 + Missense_Mutation SNP G G T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 20 30585189 30585189 G T SNP XKR7 ENST00000562532 human ensembl 74_37 +1 known missense c.1669 p.A557S 0.003 NULL pfam_Transport_prot_XK - no_errors XKR7 HGNC ENSG00000260903 118 0 0 55 10 15.3846 ZNF341 0 genome.wustl.edu 37 20 32344953 32344953 + Splice_Site SNP G G T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 20 32344953 32344953 G T SNP ZNF341 ENST00000375200 human ensembl 74_37 +1 known splice_site c.742-1 e6-1 1.000 - - - no_errors ZNF341 HGNC ENSG00000131061 425 1 0.234742 211 14 6.22222 ACSS2 0 genome.wustl.edu 37 20 33509633 33509633 + Silent SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 20 33509633 33509633 C T SNP ACSS2 ENST00000253382 human ensembl 74_37 +1 known silent c.1551 p.S517 0.993 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSS2 HGNC ENSG00000131069 613 2 0.325203 273 35 11.3636 PROCR 0 genome.wustl.edu 37 20 33764082 33764082 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 20 33764082 33764082 C T SNP PROCR ENST00000216968 human ensembl 74_37 +1 known missense c.434 p.P145L 0.608 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors PROCR HGNC ENSG00000101000 172 0 0 94 11 10.4762 MMP24 0 genome.wustl.edu 37 20 33842535 33842535 + Silent SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 20 33842535 33842535 G A SNP MMP24 ENST00000246186 human ensembl 74_37 +1 known silent c.795 p.T265 0.016 pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,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 MMP24 HGNC ENSG00000125966 145 0 0 94 9 8.73786 R3HDML 0 genome.wustl.edu 37 20 42973989 42973989 + Silent SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 20 42973989 42973989 G A SNP R3HDML ENST00000217043 human ensembl 74_37 +1 known silent c.600 p.A200 0.023 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 R3HDML HGNC ENSG00000101074 221 0 0 109 7 6.03448 SLC23A2 0 genome.wustl.edu 37 20 4880333 4880333 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 20 4880333 4880333 G A SNP SLC23A2 ENST00000338244 human ensembl 74_37 -1 known missense c.350 p.T117M 1.000 pfam_Xant/urac/vitC pfam_Xant/urac/vitC - no_errors SLC23A2 HGNC ENSG00000089057 235 0 0 134 14 9.45946 MCM8 0 genome.wustl.edu 37 20 5948171 5948171 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 20 5948171 5948171 G A SNP MCM8 ENST00000378886 human ensembl 74_37 +1 known missense c.965 p.S322N 1.000 superfamily_NA-bd_OB-fold,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase - no_errors MCM8 HGNC ENSG00000125885 153 0 0 43 43 50 HELZ2 0 genome.wustl.edu 37 20 62197020 62197020 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 20 62197020 62197020 G A SNP HELZ2 ENST00000467148 human ensembl 74_37 -1 known missense c.3155 p.T1052M 0.004 NULL superfamily_P-loop_NTPase - no_errors HELZ2 HGNC ENSG00000130589 71 0 0 39 3 7.14286 UCKL1 0 genome.wustl.edu 37 20 62571599 62571599 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 20 62571599 62571599 C T SNP UCKL1 ENST00000354216 human ensembl 74_37 -1 known missense c.1471 p.V491M 0.987 NULL pfam_PRK/URK,pfam_CPT,superfamily_P-loop_NTPase,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase - no_errors UCKL1 HGNC ENSG00000198276 55 0 0 26 9 25.7143 UBE2G2 0 genome.wustl.edu 37 21 46191262 46191262 + RNA SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 21 46191262 46191262 G A SNP UBE2G2 ENST00000477954 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors UBE2G2 HGNC ENSG00000184787 114 0 0 50 8 13.7931 CECR2 0 genome.wustl.edu 37 22 18028575 18028575 + Missense_Mutation SNP A A G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 22 18028575 18028575 A G SNP CECR2 ENST00000400573 human ensembl 74_37 +1 novel missense c.3532 p.T1178A 0.996 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 85 0 0 36 4 10 DGCR8 0 genome.wustl.edu 37 22 20077195 20077195 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 22 20077195 20077195 G A SNP DGCR8 ENST00000351989 human ensembl 74_37 +1 known missense c.884 p.R295H 1.000 superfamily_WW_dom pfam_dsRNA-bd_dom,superfamily_WW_dom,smart_WW_dom,smart_dsRNA-bd_dom,pfscan_WW_dom,pfscan_dsRNA-bd_dom - no_errors DGCR8 HGNC ENSG00000128191 143 0 0 86 8 8.51064 PI4KA 0 genome.wustl.edu 37 22 21075694 21075694 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 22 21075694 21075694 G A SNP PI4KA ENST00000255882 human ensembl 74_37 -1 known missense c.5008 p.R1670W 0.998 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 198 0 0 85 18 17.4757 AP1B1 0 genome.wustl.edu 37 22 29745311 29745311 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 22 29745311 29745311 G A SNP AP1B1 ENST00000357586 human ensembl 74_37 -1 known missense c.1333 p.R445W 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4 - no_errors AP1B1 HGNC ENSG00000100280 141 0 0 77 7 8.33333 PATZ1 0 genome.wustl.edu 37 22 31741321 31741321 + Missense_Mutation SNP C C A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 22 31741321 31741321 C A SNP PATZ1 ENST00000266269 human ensembl 74_37 -1 known missense c.268 p.A90S 1.000 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 72 0 0 33 3 8.33333 DMC1 0 genome.wustl.edu 37 22 38935386 38935386 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 22 38935386 38935386 G A SNP DMC1 ENST00000216024 human ensembl 74_37 -1 known missense c.526 p.R176C 1.000 pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,pfam_Circ_KaiC/RadA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,tigrfam_DMC1_rcmbase pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,pfam_Circ_KaiC/RadA,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,pfscan_RecA_monomer-monomer_interface,tigrfam_DMC1_rcmbase - no_errors DMC1 HGNC ENSG00000100206 127 0 0 57 6 9.52381 MGAT3 0 genome.wustl.edu 37 22 39884327 39884327 + Silent SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 22 39884327 39884327 C T SNP MGAT3 ENST00000341184 human ensembl 74_37 +1 known silent c.975 p.D325 1.000 pfam_Glyco_trans_17 pfam_Glyco_trans_17 - no_errors MGAT3 HGNC ENSG00000128268 223 0 0 146 11 7.00637 MCHR1 0 genome.wustl.edu 37 22 41075595 41075595 + Missense_Mutation SNP A A G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 22 41075595 41075595 A G SNP MCHR1 ENST00000249016 human ensembl 74_37 +1 known missense c.146 p.Q49R 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH1_rcpt,prints_MCH_rcpt,prints_GPCR_Rhodpsn - no_errors MCHR1 HGNC ENSG00000128285 97 0 0 51 4 7.27273 EFCAB6-AS1 0 genome.wustl.edu 37 22 43930793 43930793 + RNA SNP C C G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 22 43930793 43930793 C G SNP EFCAB6-AS1 ENST00000431327 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors EFCAB6-AS1 HGNC ENSG00000223843 84 0 0 39 10 20.4082 EFCAB6 0 genome.wustl.edu 37 22 44022428 44022428 + Silent SNP A A G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 22 44022428 44022428 A G SNP EFCAB6 ENST00000262726 human ensembl 74_37 -1 known silent c.2364 p.L788 0.000 NULL pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFCAB6 HGNC ENSG00000186976 124 0 0 40 14 25.9259 TOMM70A 0 genome.wustl.edu 37 3 100093959 100093959 + Missense_Mutation SNP T T A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 3 100093959 100093959 T A SNP TOMM70A ENST00000284320 human ensembl 74_37 -1 known missense c.1130 p.Y377F 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TOMM70A HGNC ENSG00000154174 185 1 0.537634 110 8 6.77966 ZBTB20 0 genome.wustl.edu 37 3 114058128 114058128 + Silent SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 3 114058128 114058128 G A SNP ZBTB20 ENST00000474710 human ensembl 74_37 -1 known silent c.1950 p.N650 0.863 pfam_Znf_C2H2,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 262 0 0 121 9 6.92308 SEMA5B 0 genome.wustl.edu 37 3 122632748 122632748 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 3 122632748 122632748 G A SNP SEMA5B ENST00000451055 human ensembl 74_37 -1 known missense c.2251 p.R751C 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5B HGNC ENSG00000082684 139 0 0 66 7 9.58904 KALRN 0 genome.wustl.edu 37 3 124103819 124103819 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 3 124103819 124103819 G A SNP KALRN ENST00000360013 human ensembl 74_37 +1 known missense c.1892 p.R631H 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_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 135 0 0 73 7 8.75 FAM86JP 0 genome.wustl.edu 37 3 125643933 125643933 + RNA SNP A A G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 3 125643933 125643933 A G SNP FAM86JP ENST00000467239 human ensembl 74_37 +1 known rna NULL NULL 0.593 - - - no_errors FAM86JP HGNC ENSG00000171084 170 0 0 86 5 5.49451 UROC1 0 genome.wustl.edu 37 3 126229550 126229550 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 3 126229550 126229550 C T SNP UROC1 ENST00000290868 human ensembl 74_37 -1 known missense c.214 p.G72R 1.000 NULL pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase - no_errors UROC1 HGNC ENSG00000159650 67 0 0 37 4 9.7561 CPNE4 0 genome.wustl.edu 37 3 131442406 131442406 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 3 131442406 131442406 C T SNP CPNE4 ENST00000502818 human ensembl 74_37 -1 known missense c.298 p.D100N 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom - no_errors CPNE4 HGNC ENSG00000196353 338 0 0 141 13 8.44156 ZIC1 0 genome.wustl.edu 37 3 147128729 147128729 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 3 147128729 147128729 C T SNP ZIC1 ENST00000282928 human ensembl 74_37 +1 known missense c.830 p.P277L 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC1 HGNC ENSG00000152977 161 0 0 111 7 5.9322 BCHE 0 genome.wustl.edu 37 3 165547539 165547539 + Missense_Mutation SNP C C A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 3 165547539 165547539 C A SNP BCHE ENST00000264381 human ensembl 74_37 -1 known missense c.1283 p.C428F 1.000 pfam_CarbesteraseB,prints_Cholinesterase pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC ENSG00000114200 177 0 0 106 27 20.3008 SERPINI2 0 genome.wustl.edu 37 3 167183292 167183292 + Missense_Mutation SNP C C A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 3 167183292 167183292 C A SNP SERPINI2 ENST00000264677 human ensembl 74_37 -1 known missense c.648 p.M216I 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINI2 HGNC ENSG00000114204 107 0 0 75 18 19.3548 PIK3CA 0 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.1624 p.E542K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_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 85 0 0 58 4 6.45161 PIK3CA 0 genome.wustl.edu 37 3 178936094 178936094 + Missense_Mutation SNP C C A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 3 178936094 178936094 C A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.1636 p.Q546K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_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 83 0 0 57 4 6.55738 VPS8 0 genome.wustl.edu 37 3 184573526 184573526 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 3 184573526 184573526 G A SNP VPS8 ENST00000287546 human ensembl 74_37 +1 known missense c.1063 p.A355T 1.000 superfamily_Quinonprotein_ADH-like_supfam superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors VPS8 HGNC ENSG00000156931 243 0 0 187 23 10.9524 ATP13A5 0 genome.wustl.edu 37 3 193080199 193080199 + Silent SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 3 193080199 193080199 C T SNP ATP13A5 ENST00000342358 human ensembl 74_37 -1 known silent c.507 p.L169 0.859 pfam_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A5 HGNC ENSG00000187527 84 0 0 100 13 11.5044 UBXN7 0 genome.wustl.edu 37 3 196098766 196098766 + Splice_Site SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 3 196098766 196098766 C T SNP UBXN7 ENST00000296328 human ensembl 74_37 -1 known splice_site c.615+1 e6+1 1.000 - - - no_errors UBXN7 HGNC ENSG00000163960 185 0 0 107 12 10.084 RAB5A 0 genome.wustl.edu 37 3 20017628 20017628 + Silent SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 3 20017628 20017628 C T SNP RAB5A ENST00000273047 human ensembl 74_37 +1 known silent c.405 p.A135 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB5A HGNC ENSG00000144566 85 0 0 49 4 7.54717 CNTN4 0 genome.wustl.edu 37 3 2967352 2967352 + Missense_Mutation SNP T T C TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 3 2967352 2967352 T C SNP CNTN4 ENST00000397461 human ensembl 74_37 +1 known missense c.1247 p.V416A 0.053 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,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 CNTN4 HGNC ENSG00000144619 216 0 0 101 12 10.6195 OSBPL10 0 genome.wustl.edu 37 3 31871662 31871662 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 3 31871662 31871662 G A SNP OSBPL10 ENST00000396556 human ensembl 74_37 -1 known missense c.599 p.A200V 1.000 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL10 HGNC ENSG00000144645 96 0 0 46 3 6.12245 SUSD5 0 genome.wustl.edu 37 3 33195442 33195442 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 3 33195442 33195442 G A SNP SUSD5 ENST00000309558 human ensembl 74_37 -1 known missense c.682 p.R228W 0.005 NULL pfam_Link,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Link,pfscan_Link,pfscan_Sushi_SCR_CCP - no_errors SUSD5 HGNC ENSG00000173705 70 0 0 32 5 13.5135 ZNF621 0 genome.wustl.edu 37 3 40574034 40574034 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 3 40574034 40574034 C T SNP ZNF621 ENST00000339296 human ensembl 74_37 +1 known missense c.773 p.T258M 0.980 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 ZNF621 HGNC ENSG00000172888 135 0 0 52 11 17.4603 SNRK 0 genome.wustl.edu 37 3 43389767 43389767 + Missense_Mutation SNP G G T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 3 43389767 43389767 G T SNP SNRK ENST00000296088 human ensembl 74_37 +1 known missense c.2016 p.L672F 0.198 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_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors SNRK HGNC ENSG00000163788 146 1 0.680272 71 19 21.1111 C3orf84 0 genome.wustl.edu 37 3 49227333 49227333 + RNA SNP A A C TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 3 49227333 49227333 A C SNP C3orf84 ENST00000443990 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors C3orf84 HGNC ENSG00000236980 290 0 0 152 21 12.1387 FAM212A 0 genome.wustl.edu 37 3 49842272 49842272 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 3 49842272 49842272 G A SNP FAM212A ENST00000333323 human ensembl 74_37 +1 known missense c.716 p.R239K 1.000 NULL NULL - no_errors FAM212A HGNC ENSG00000185614 258 0 0 71 37 34.2593 STAB1 0 genome.wustl.edu 37 3 52556204 52556204 + Silent SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 3 52556204 52556204 C T SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known silent c.6423 p.R2141 0.403 smart_EG-like_dom,pfscan_EG-like_dom pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 106 0 0 46 9 16.3636 PBRM1 0 genome.wustl.edu 37 3 52610695 52610695 + Nonsense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 3 52610695 52610695 G A SNP PBRM1 ENST00000296302 human ensembl 74_37 -1 known nonsense c.3553 p.R1185* 0.999 pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC ENSG00000163939 69 0 0 36 12 25 HESX1 0 genome.wustl.edu 37 3 57233925 57233925 + Missense_Mutation SNP C C A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 3 57233925 57233925 C A SNP HESX1 ENST00000295934 human ensembl 74_37 -1 known missense c.22 p.G8C 0.275 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HESX1 HGNC ENSG00000163666 144 0 0 72 4 5.26316 ABHD6 0 genome.wustl.edu 37 3 58260420 58260420 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 3 58260420 58260420 C T SNP ABHD6 ENST00000295962 human ensembl 74_37 +1 known missense c.559 p.R187W 0.961 pfam_AB_hydrolase_1,pfam_Ndr pfam_AB_hydrolase_1,pfam_Ndr,prints_AB_hydrolase_1,prints_Epox_hydrolase-like - no_errors ABHD6 HGNC ENSG00000163686 125 0 0 88 11 11.1111 PROS1 0 genome.wustl.edu 37 3 93619668 93619668 + Missense_Mutation SNP A A G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 3 93619668 93619668 A G SNP PROS1 ENST00000394236 human ensembl 74_37 -1 known missense c.707 p.L236P 0.030 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,pfam_EG-like_dom,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 PROS1 HGNC ENSG00000184500 102 0 0 60 4 6.25 DDIT4L 0 genome.wustl.edu 37 4 101109029 101109029 + Silent SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 4 101109029 101109029 G A SNP DDIT4L ENST00000273990 human ensembl 74_37 -1 known silent c.387 p.S129 0.048 pfam_RTP801-like pfam_RTP801-like - no_errors DDIT4L HGNC ENSG00000145358 97 0 0 55 6 9.83607 NDNF 0 genome.wustl.edu 37 4 121966924 121966924 + Silent SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 4 121966924 121966924 G A SNP NDNF ENST00000379692 human ensembl 74_37 -1 known silent c.69 p.P23 0.997 NULL pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors NDNF HGNC ENSG00000173376 100 0 0 63 5 7.35294 PCDH10 0 genome.wustl.edu 37 4 134073201 134073201 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 4 134073201 134073201 G A SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.1906 p.G636R 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 114 0 0 54 10 15.625 BOD1L1 0 genome.wustl.edu 37 4 13606646 13606646 + Silent SNP T T C TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 4 13606646 13606646 T C SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known silent c.1878 p.E626 0.050 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 80 0 0 44 11 20 TLL1 0 genome.wustl.edu 37 4 166986858 166986858 + Missense_Mutation SNP G G T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 4 166986858 166986858 G T SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known missense c.2031 p.E677D 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 179 0 0 69 13 15.8537 FAM149A 0 genome.wustl.edu 37 4 187074826 187074826 + Silent SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 4 187074826 187074826 C T SNP FAM149A ENST00000356371 human ensembl 74_37 +1 known silent c.987 p.P329 0.000 pfam_DUF3719 pfam_DUF3719 - no_errors FAM149A HGNC ENSG00000109794 312 0 0 133 37 21.7647 ZFP42 0 genome.wustl.edu 37 4 188924094 188924094 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 4 188924094 188924094 G A SNP ZFP42 ENST00000326866 human ensembl 74_37 +1 known missense c.133 p.A45T 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP42 HGNC ENSG00000179059 113 0 0 59 7 10.6061 PPARGC1A 0 genome.wustl.edu 37 4 23803856 23803856 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 4 23803856 23803856 C T SNP PPARGC1A ENST00000264867 human ensembl 74_37 -1 known missense c.2132 p.R711Q 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1A HGNC ENSG00000109819 153 0 0 81 11 11.9565 MSANTD1 0 genome.wustl.edu 37 4 3251104 3251104 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 4 3251104 3251104 G A SNP MSANTD1 ENST00000438480 human ensembl 74_37 +1 known missense c.155 p.R52H 1.000 NULL NULL - no_errors MSANTD1 HGNC ENSG00000188981 9 0 0 6 3 33.3333 GABRA4 0 genome.wustl.edu 37 4 46995377 46995377 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 4 46995377 46995377 C T SNP GABRA4 ENST00000264318 human ensembl 74_37 -1 known missense c.65 p.R22H 0.934 NULL pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa4_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA4 HGNC ENSG00000109158 255 0 0 80 8 9.09091 ATP10D 0 genome.wustl.edu 37 4 47517498 47517498 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 4 47517498 47517498 C T SNP ATP10D ENST00000273859 human ensembl 74_37 +1 known missense c.296 p.A99V 1.000 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 100 0 0 61 10 14.0845 EVC2 0 genome.wustl.edu 37 4 5627539 5627539 + Missense_Mutation SNP C C A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 4 5627539 5627539 C A SNP EVC2 ENST00000344408 human ensembl 74_37 -1 known missense c.1983 p.K661N 1.000 pfam_Limbin pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 153 0 0 69 15 17.8571 EVC 0 genome.wustl.edu 37 4 5803748 5803748 + Silent SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 4 5803748 5803748 G A SNP EVC ENST00000264956 human ensembl 74_37 +1 known silent c.2376 p.A792 0.000 NULL NULL - no_errors EVC HGNC ENSG00000072840 70 0 0 39 7 15.2174 MAN2B2 0 genome.wustl.edu 37 4 6606906 6606906 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 4 6606906 6606906 C T SNP MAN2B2 ENST00000285599 human ensembl 74_37 +1 known missense c.1664 p.P555L 0.000 pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_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 174 0 0 93 10 9.70874 YTHDC1 0 genome.wustl.edu 37 4 69184574 69184574 + Missense_Mutation SNP A A G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 4 69184574 69184574 A G SNP YTHDC1 ENST00000344157 human ensembl 74_37 -1 known missense c.1691 p.L564S 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDC1 HGNC ENSG00000083896 122 0 0 72 8 10 NPFFR2 0 genome.wustl.edu 37 4 72897896 72897896 + Missense_Mutation SNP C C A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 4 72897896 72897896 C A SNP NPFFR2 ENST00000308744 human ensembl 74_37 +1 known missense c.278 p.A93D 0.000 NULL 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 65 0 0 15 9 37.5 FRAS1 0 genome.wustl.edu 37 4 79461950 79461950 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 4 79461950 79461950 C T SNP FRAS1 ENST00000264895 human ensembl 74_37 +1 known missense c.11711 p.A3904V 0.996 NULL pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 51 0 0 29 5 14.7059 SLC10A6 0 genome.wustl.edu 37 4 87744985 87744985 + Silent SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 4 87744985 87744985 G A SNP SLC10A6 ENST00000273905 human ensembl 74_37 -1 known silent c.990 p.C330 0.000 NULL pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A6 HGNC ENSG00000145283 150 0 0 64 9 12.3288 ABCG2 0 genome.wustl.edu 37 4 89034556 89034556 + Missense_Mutation SNP T T C TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 4 89034556 89034556 T C SNP ABCG2 ENST00000237612 human ensembl 74_37 -1 known missense c.1093 p.K365E 0.000 NULL pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCG2 HGNC ENSG00000118777 288 0 0 169 27 13.7755 FBN2 0 genome.wustl.edu 37 5 127671202 127671202 + Nonsense_Mutation SNP G G C TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 5 127671202 127671202 G C SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known nonsense c.3792 p.Y1264* 0.970 pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_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 236 0 0 184 13 6.59898 VDAC1 0 genome.wustl.edu 37 5 133311636 133311636 + Missense_Mutation SNP A A G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 5 133311636 133311636 A G SNP VDAC1 ENST00000265333 human ensembl 74_37 -1 known missense c.628 p.W210R 1.000 pfam_Porin_Euk/Tom40 pfam_Porin_Euk/Tom40,prints_Porin_Euk - no_errors VDAC1 HGNC ENSG00000213585 236 0 0 179 10 5.29101 SMAD5 0 genome.wustl.edu 37 5 135513027 135513027 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 5 135513027 135513027 G A SNP SMAD5 ENST00000545279 human ensembl 74_37 +1 known missense c.1256 p.G419D 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type 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 SMAD5 HGNC ENSG00000113658 51 0 0 25 3 10.7143 DNAH5 0 genome.wustl.edu 37 5 13717570 13717570 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 5 13717570 13717570 C T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.12559 p.A4187T 0.683 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 66 0 0 46 5 9.80392 BRD8 0 genome.wustl.edu 37 5 137503737 137503737 + Missense_Mutation SNP C C A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 5 137503737 137503737 C A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.673 p.G225C 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 165 0 0 76 51 40.1575 BRD8 0 genome.wustl.edu 37 5 137503739 137503739 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 5 137503739 137503739 G A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.671 p.S224F 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 169 0 0 74 71 48.9655 CXXC5 0 genome.wustl.edu 37 5 139060342 139060342 + Silent SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 5 139060342 139060342 G A SNP CXXC5 ENST00000302517 human ensembl 74_37 +1 known silent c.234 p.P78 0.282 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors CXXC5 HGNC ENSG00000171604 187 1 0.531915 123 15 10.8696 NRG2 0 genome.wustl.edu 37 5 139231209 139231209 + Silent SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 5 139231209 139231209 G A SNP NRG2 ENST00000545385 human ensembl 74_37 -1 known silent c.1758 p.R586 0.143 pfam_Neuregulin_1_C 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 133 0 0 64 14 17.9487 PCDHAC2 0 genome.wustl.edu 37 5 140346661 140346661 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 5 140346661 140346661 C T SNP PCDHAC2 ENST00000289269 human ensembl 74_37 +1 known missense c.310 p.R104C 1.000 pfam_Cadherin_N,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 PCDHAC2 HGNC ENSG00000243232 75 0 0 27 3 10 PCDHB10 0 genome.wustl.edu 37 5 140574118 140574118 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 5 140574118 140574118 G A SNP PCDHB10 ENST00000239446 human ensembl 74_37 +1 known missense c.1993 p.G665S 0.993 smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB10 HGNC ENSG00000120324 115 1 0.862069 98 7 6.66667 PCDHB15 0 genome.wustl.edu 37 5 140627116 140627116 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 5 140627116 140627116 C T SNP PCDHB15 ENST00000231173 human ensembl 74_37 +1 known missense c.1970 p.T657M 0.717 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 PCDHB15 HGNC ENSG00000113248 154 0 0 97 8 7.61905 PCDHGA2 0 genome.wustl.edu 37 5 140720916 140720916 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 5 140720916 140720916 C T SNP PCDHGA2 ENST00000394576 human ensembl 74_37 +1 known missense c.2378 p.A793V 0.006 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 224 0 0 153 9 5.55556 PCDHGA12 0 genome.wustl.edu 37 5 140812130 140812130 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 5 140812130 140812130 G A SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known missense c.1804 p.A602T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 195 0 0 127 12 8.63309 PDE6A 0 genome.wustl.edu 37 5 149294523 149294523 + Missense_Mutation SNP C C A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 5 149294523 149294523 C A SNP PDE6A ENST00000255266 human ensembl 74_37 -1 known missense c.981 p.E327D 0.977 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6A HGNC ENSG00000132915 121 0 0 91 7 7.14286 KIF4B 0 genome.wustl.edu 37 5 154396439 154396439 + Missense_Mutation SNP C C A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 5 154396439 154396439 C A SNP KIF4B ENST00000435029 human ensembl 74_37 +1 known missense c.3020 p.P1007H 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 KIF4B HGNC ENSG00000226650 260 2 0.763359 129 7 5.14706 FAM71B 0 genome.wustl.edu 37 5 156589984 156589984 + Missense_Mutation SNP C C A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 5 156589984 156589984 C A SNP FAM71B ENST00000302938 human ensembl 74_37 -1 known missense c.1292 p.R431I 0.007 NULL pfam_DUF3699 - no_errors FAM71B HGNC ENSG00000170613 185 0 0 103 8 7.20721 EBF1 0 genome.wustl.edu 37 5 158141123 158141123 + Splice_Site SNP A A G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 5 158141123 158141123 A G SNP EBF1 ENST00000313708 human ensembl 74_37 -1 known splice_site c.1191+2 e12+2 1.000 - - - no_errors EBF1 HGNC ENSG00000164330 212 0 0 122 21 14.6853 MYO10 0 genome.wustl.edu 37 5 16701576 16701576 + Silent SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 5 16701576 16701576 G A SNP MYO10 ENST00000513610 human ensembl 74_37 -1 known silent c.2928 p.C976 0.000 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 56 0 0 47 4 7.84314 LCP2 0 genome.wustl.edu 37 5 169680150 169680150 + Silent SNP A A C TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 5 169680150 169680150 A C SNP LCP2 ENST00000046794 human ensembl 74_37 -1 known silent c.1218 p.P406 0.000 NULL pfam_SH2,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,smart_SH2,pfscan_SH2 - no_errors LCP2 HGNC ENSG00000043462 32 0 0 13 4 23.5294 CPEB4 0 genome.wustl.edu 37 5 173317108 173317108 + Silent SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 5 173317108 173317108 G A SNP CPEB4 ENST00000265085 human ensembl 74_37 +1 known silent c.372 p.S124 0.012 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB4 HGNC ENSG00000113742 150 0 0 74 12 13.9535 FTH1P10 0 genome.wustl.edu 37 5 17354467 17354467 + RNA SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 5 17354467 17354467 G A SNP FTH1P10 ENST00000401830 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors FTH1P10 HGNC ENSG00000223361 61 0 0 33 17 34 GRK6 0 genome.wustl.edu 37 5 176868758 176868758 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 5 176868758 176868758 C T SNP GRK6 ENST00000528793 human ensembl 74_37 +1 known missense c.1700 p.A567V 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK6 HGNC ENSG00000198055 172 0 0 72 4 5.26316 NDUFS6 0 genome.wustl.edu 37 5 1814513 1814513 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 5 1814513 1814513 C T SNP NDUFS6 ENST00000274137 human ensembl 74_37 +1 known missense c.247 p.R83W 0.323 pfam_Znf_CHCC,pirsf_NADH_Ub_cplx-1_Fe-S_6_mit pfam_Znf_CHCC,pirsf_NADH_Ub_cplx-1_Fe-S_6_mit - no_errors NDUFS6 HGNC ENSG00000145494 156 0 0 80 23 22.3301 ADAMTS12 0 genome.wustl.edu 37 5 33751454 33751454 + Nonsense_Mutation SNP A A T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 5 33751454 33751454 A T SNP ADAMTS12 ENST00000515401 human ensembl 74_37 -1 known nonsense c.689 p.L230* 0.001 NULL pfam_Peptidase_M12B_N - no_errors ADAMTS12 HGNC ENSG00000151388 73 0 0 53 5 8.62069 RANBP3L 0 genome.wustl.edu 37 5 36257585 36257585 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 5 36257585 36257585 G A SNP RANBP3L ENST00000296604 human ensembl 74_37 -1 known missense c.743 p.P248L 0.002 NULL pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom - no_errors RANBP3L HGNC ENSG00000164188 116 0 0 40 15 27.2727 ADCY2 0 genome.wustl.edu 37 5 7626396 7626396 + Silent SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 5 7626396 7626396 G A SNP ADCY2 ENST00000338316 human ensembl 74_37 +1 known silent c.687 p.S229 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 ADCY2 HGNC ENSG00000078295 125 0 0 70 22 23.913 CMYA5 0 genome.wustl.edu 37 5 79024982 79024982 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 5 79024982 79024982 C T SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.394 p.R132W 0.987 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 200 0 0 123 10 7.5188 CEP57L1 0 genome.wustl.edu 37 6 109466443 109466443 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 6 109466443 109466443 C T SNP CEP57L1 ENST00000359793 human ensembl 74_37 +1 known missense c.19 p.H7Y 0.577 NULL pfam_Cep57_MT-bd_dom - no_errors CEP57L1 HGNC ENSG00000183137 244 0 0 168 14 7.69231 MICAL1 0 genome.wustl.edu 37 6 109771540 109771540 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 6 109771540 109771540 C T SNP MICAL1 ENST00000368952 human ensembl 74_37 -1 known missense c.1211 p.R404H 0.672 superfamily_CH-domain pfam_DUF3585,pfam_CH-domain,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICAL1 HGNC ENSG00000135596 178 0 0 86 8 8.51064 HIVEP1 0 genome.wustl.edu 37 6 12164647 12164647 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 6 12164647 12164647 G A SNP HIVEP1 ENST00000379388 human ensembl 74_37 +1 known missense c.8110 p.D2704N 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 97 0 0 51 7 12.069 RSPO3 0 genome.wustl.edu 37 6 127440347 127440347 + Nonsense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 6 127440347 127440347 C T SNP RSPO3 ENST00000368317 human ensembl 74_37 +1 known nonsense c.10 p.R4* 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 RSPO3 HGNC ENSG00000146374 222 0 0 89 12 11.8812 TCF21 0 genome.wustl.edu 37 6 134210545 134210545 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 6 134210545 134210545 G A SNP TCF21 ENST00000237316 human ensembl 74_37 +1 known missense c.10 p.G4S 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF21 HGNC ENSG00000118526 169 0 0 84 8 8.69565 ALDH8A1 0 genome.wustl.edu 37 6 135239833 135239833 + Missense_Mutation SNP G G T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 6 135239833 135239833 G T SNP ALDH8A1 ENST00000265605 human ensembl 74_37 -1 known missense c.1184 p.P395Q 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH8A1 HGNC ENSG00000118514 158 0 0 96 11 10.2804 BCLAF1 0 genome.wustl.edu 37 6 136599130 136599130 + Missense_Mutation SNP A A G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 6 136599130 136599130 A G SNP BCLAF1 ENST00000531224 human ensembl 74_37 -1 known missense c.889 p.S297P 1.000 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 115 0 0 73 4 5.19481 IPCEF1 0 genome.wustl.edu 37 6 154520863 154520863 + Silent SNP A A G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 6 154520863 154520863 A G SNP IPCEF1 ENST00000367220 human ensembl 74_37 -1 known silent c.849 p.S283 0.981 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors IPCEF1 HGNC ENSG00000074706 155 0 0 94 15 13.7615 ARID1B 0 genome.wustl.edu 37 6 157222537 157222537 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 6 157222537 157222537 G A SNP ARID1B ENST00000367148 human ensembl 74_37 +1 known missense c.1765 p.V589M 0.998 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 94 0 0 26 10 27.7778 IGF2R 0 genome.wustl.edu 37 6 160468929 160468929 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 6 160468929 160468929 G A SNP IGF2R ENST00000356956 human ensembl 74_37 +1 known missense c.2335 p.D779N 1.000 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 95 0 0 50 4 7.40741 LPA 0 genome.wustl.edu 37 6 161006078 161006078 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 6 161006078 161006078 G A SNP LPA ENST00000316300 human ensembl 74_37 -1 known missense c.4289 p.A1430V 0.946 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors LPA HGNC ENSG00000198670 290 0 0 187 12 6.03015 PARK2 0 genome.wustl.edu 37 6 161781145 161781145 + Silent SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 6 161781145 161781145 G A SNP PARK2 ENST00000366898 human ensembl 74_37 -1 known silent c.1260 p.R420 0.947 pfam_Znf_C6HC,smart_Znf_C6HC,pirsf_Parkin pfam_Ubiquitin_dom,pfam_Znf_C6HC,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,smart_Znf_C6HC,pirsf_Parkin,pfscan_Ubiquitin_supergroup,prints_Parkin,prints_Ubiquitin - no_errors PARK2 HGNC ENSG00000185345 291 0 0 137 13 8.66667 MLLT4 0 genome.wustl.edu 37 6 168316019 168316019 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 6 168316019 168316019 C T SNP MLLT4 ENST00000366806 human ensembl 74_37 +1 known missense c.2450 p.A817V 1.000 pfam_Dil_domain,pfscan_Dilute pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 89 0 0 42 3 6.66667 BTN3A2 0 genome.wustl.edu 37 6 26370758 26370758 + Silent SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 6 26370758 26370758 C T SNP BTN3A2 ENST00000356386 human ensembl 74_37 +1 known silent c.642 p.S214 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors BTN3A2 HGNC ENSG00000186470 264 0 0 120 15 11.1111 BTN2A2 0 genome.wustl.edu 37 6 26388404 26388404 + Silent SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 6 26388404 26388404 C T SNP BTN2A2 ENST00000356709 human ensembl 74_37 +1 known silent c.606 p.D202 0.001 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 BTN2A2 HGNC ENSG00000124508 197 0 0 106 13 10.9244 HIST1H2BJ 0 genome.wustl.edu 37 6 27100525 27100525 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 6 27100525 27100525 G A SNP HIST1H2BJ ENST00000339812 human ensembl 74_37 -1 known missense c.5 p.P2L 1.000 NULL pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BJ HGNC ENSG00000124635 152 0 0 54 27 33.3333 HIST1H1B 0 genome.wustl.edu 37 6 27834673 27834673 + Missense_Mutation SNP T T C TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 6 27834673 27834673 T C SNP HIST1H1B ENST00000331442 human ensembl 74_37 -1 known missense c.635 p.K212R 1.000 NULL pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1B HGNC ENSG00000184357 65 0 0 30 7 18.9189 SERPINB6 0 genome.wustl.edu 37 6 2948552 2948552 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 6 2948552 2948552 C T SNP SERPINB6 ENST00000335686 human ensembl 74_37 -1 known missense c.1111 p.G371S 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB6 HGNC ENSG00000124570 99 0 0 67 5 6.94444 PRRC2A 0 genome.wustl.edu 37 6 31593818 31593818 + Silent SNP C C G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 6 31593818 31593818 C G SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known silent c.861 p.G287 0.997 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 105 1 0.943396 48 15 23.8095 USP49 0 genome.wustl.edu 37 6 41774530 41774530 + Silent SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 6 41774530 41774530 C T SNP USP49 ENST00000373009 human ensembl 74_37 -1 known silent c.192 p.P64 0.819 pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP49 HGNC ENSG00000164663 261 1 0.381679 156 20 11.3636 CUL7 0 genome.wustl.edu 37 6 43013989 43013989 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 6 43013989 43013989 C T SNP CUL7 ENST00000535468 human ensembl 74_37 -1 known missense c.2897 p.R966Q 0.942 pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC ENSG00000044090 100 0 0 58 5 7.93651 CRISP1 0 genome.wustl.edu 37 6 49803156 49803156 + Missense_Mutation SNP G G T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 6 49803156 49803156 G T SNP CRISP1 ENST00000335847 human ensembl 74_37 -1 known missense c.623 p.T208N 0.964 pfam_Cysteine_rich_secretory pfam_Cysteine_rich_secretory,pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen - no_errors CRISP1 HGNC ENSG00000124812 144 0 0 96 7 6.79612 LMBRD1 0 genome.wustl.edu 37 6 70423555 70423555 + Silent SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 6 70423555 70423555 G A SNP LMBRD1 ENST00000370577 human ensembl 74_37 -1 known silent c.897 p.G299 0.888 NULL pfam_LMBR1-like_membr_prot - no_errors LMBRD1 HGNC ENSG00000168216 136 0 0 71 5 6.57895 MDN1 0 genome.wustl.edu 37 6 90402780 90402780 + Silent SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 6 90402780 90402780 G A SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known silent c.9969 p.Y3323 0.989 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 76 0 0 29 3 9.375 ZAN 0 genome.wustl.edu 37 7 100348417 100348417 + Silent SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 7 100348417 100348417 G A SNP ZAN ENST00000546292 human ensembl 74_37 +1 known silent c.1419 p.A473 0.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom 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 47 0 0 30 3 9.09091 SLC26A4 0 genome.wustl.edu 37 7 107303837 107303837 + Silent SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 7 107303837 107303837 C T SNP SLC26A4 ENST00000265715 human ensembl 74_37 +1 known silent c.261 p.D87 0.668 tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A4 HGNC ENSG00000091137 141 0 0 110 24 17.9104 PLXNA4 0 genome.wustl.edu 37 7 131830026 131830026 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 7 131830026 131830026 C T SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.5077 p.D1693N 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot 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 81 0 0 77 5 6.09756 OR2A5 0 genome.wustl.edu 37 7 143747978 143747978 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 7 143747978 143747978 C T SNP OR2A5 ENST00000408906 human ensembl 74_37 +1 known missense c.484 p.L162F 0.565 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2A5 HGNC ENSG00000221836 403 0 0 257 30 10.453 OR2A25 0 genome.wustl.edu 37 7 143772113 143772113 + Missense_Mutation SNP G G T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 7 143772113 143772113 G T SNP OR2A25 ENST00000408898 human ensembl 74_37 +1 known missense c.801 p.K267N 0.000 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 OR2A25 HGNC ENSG00000221933 387 0 0 273 25 8.38926 GIMAP6 0 genome.wustl.edu 37 7 150325544 150325544 + Missense_Mutation SNP T T C TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 7 150325544 150325544 T C SNP GIMAP6 ENST00000328902 human ensembl 74_37 -1 known missense c.142 p.K48E 1.000 pfam_AIG1,superfamily_P-loop_NTPase pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP6 HGNC ENSG00000133561 623 0 0 417 33 7.33333 ASIC3 0 genome.wustl.edu 37 7 150746310 150746310 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 7 150746310 150746310 C T SNP ASIC3 ENST00000297512 human ensembl 74_37 +1 known missense c.338 p.A113V 0.032 pfam_Na+channel_ASC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors ASIC3 HGNC ENSG00000213199 84 0 0 77 5 6.09756 SOSTDC1 0 genome.wustl.edu 37 7 16502239 16502239 + Silent SNP G G T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 7 16502239 16502239 G T SNP SOSTDC1 ENST00000307068 human ensembl 74_37 -1 known silent c.555 p.A185 0.998 pfam_Sclerostin/SOSTDC1 pfam_Sclerostin/SOSTDC1,pfam_Cys_knot,pfam_DAN,pfscan_Cys_knot_C - no_errors SOSTDC1 HGNC ENSG00000171243 246 1 0.404858 119 47 28.3133 AGR3 0 genome.wustl.edu 37 7 16900207 16900207 + Missense_Mutation SNP T T C TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 7 16900207 16900207 T C SNP AGR3 ENST00000310398 human ensembl 74_37 -1 known missense c.368 p.D123G 1.000 superfamily_Thioredoxin-like_fold superfamily_Thioredoxin-like_fold - no_errors AGR3 HGNC ENSG00000173467 115 0 0 96 8 7.69231 SP4 0 genome.wustl.edu 37 7 21521594 21521594 + Missense_Mutation SNP T T C TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 7 21521594 21521594 T C SNP SP4 ENST00000222584 human ensembl 74_37 +1 known missense c.1960 p.C654R 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP4 HGNC ENSG00000105866 184 0 0 125 11 8.08824 DNAH11 0 genome.wustl.edu 37 7 21779241 21779241 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 7 21779241 21779241 G A SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.7885 p.A2629T 0.445 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 121 0 0 66 14 17.5 DNAH11 0 genome.wustl.edu 37 7 21923928 21923928 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 7 21923928 21923928 G A SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.12428 p.R4143H 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 DNAH11 HGNC ENSG00000105877 99 0 0 69 6 8 OSBPL3 0 genome.wustl.edu 37 7 24901354 24901354 + Missense_Mutation SNP T T C TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 7 24901354 24901354 T C SNP OSBPL3 ENST00000313367 human ensembl 74_37 -1 known missense c.905 p.H302R 1.000 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL3 HGNC ENSG00000070882 141 0 0 97 16 14.1593 SFRP4 0 genome.wustl.edu 37 7 37951870 37951870 + Silent SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 7 37951870 37951870 G A SNP SFRP4 ENST00000436072 human ensembl 74_37 -1 known silent c.642 p.V214 0.880 pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain 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 SFRP4 HGNC ENSG00000106483 96 0 0 77 31 28.7037 NPC1L1 0 genome.wustl.edu 37 7 44579712 44579712 + Missense_Mutation SNP T T A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 7 44579712 44579712 T A SNP NPC1L1 ENST00000289547 human ensembl 74_37 -1 known missense c.284 p.Q95L 1.000 NULL pfam_Patched,pfscan_SSD - no_errors NPC1L1 HGNC ENSG00000015520 93 0 0 51 5 8.92857 PKD1L1 0 genome.wustl.edu 37 7 47968815 47968815 + Missense_Mutation SNP T T C TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 7 47968815 47968815 T C SNP PKD1L1 ENST00000289672 human ensembl 74_37 -1 known missense c.1046 p.H349R 0.873 NULL pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 184 1 0.540541 125 9 6.71642 ABCA13 0 genome.wustl.edu 37 7 48391962 48391962 + Nonsense_Mutation SNP C C A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 7 48391962 48391962 C A SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known nonsense c.10566 p.Y3522* 0.915 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 54 0 0 41 6 12.766 USP42 0 genome.wustl.edu 37 7 6187480 6187480 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 7 6187480 6187480 C T SNP USP42 ENST00000306177 human ensembl 74_37 +1 known missense c.1343 p.A448V 0.001 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP42 HGNC ENSG00000106346 214 0 0 128 7 5.18519 DAGLB 0 genome.wustl.edu 37 7 6485687 6485687 + Silent SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 7 6485687 6485687 G A SNP DAGLB ENST00000297056 human ensembl 74_37 -1 known silent c.144 p.D48 1.000 NULL pfam_Lipase_3 - no_errors DAGLB HGNC ENSG00000164535 141 0 0 81 7 7.95455 WBSCR17 0 genome.wustl.edu 37 7 70800582 70800582 + Silent SNP T T G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 7 70800582 70800582 T G SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known silent c.285 p.G95 0.999 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 107 0 0 46 34 42.5 CLIP2 0 genome.wustl.edu 37 7 73771749 73771749 + Missense_Mutation SNP C C A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 7 73771749 73771749 C A SNP CLIP2 ENST00000223398 human ensembl 74_37 +1 known missense c.1157 p.T386K 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain - no_errors CLIP2 HGNC ENSG00000106665 59 0 0 15 16 51.6129 AKAP9 0 genome.wustl.edu 37 7 91694563 91694563 + Missense_Mutation SNP A A G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 7 91694563 91694563 A G SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known missense c.6032 p.E2011G 1.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 51 0 0 41 4 8.88889 CSMD3 0 genome.wustl.edu 37 8 113702268 113702268 + Nonsense_Mutation SNP C C A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 8 113702268 113702268 C A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known nonsense c.1984 p.E662* 1.000 superfamily_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 199 0 0 145 17 10.4938 SLC45A4 0 genome.wustl.edu 37 8 142228927 142228927 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 8 142228927 142228927 G A SNP SLC45A4 ENST00000517878 human ensembl 74_37 -1 known missense c.812 p.A271V 0.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A4 HGNC ENSG00000022567 177 0 0 102 14 12.069 PLEC 0 genome.wustl.edu 37 8 144990986 144990986 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 8 144990986 144990986 C T SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.13414 p.A4472T 1.000 pfam_Plectin_repeat,smart_Plectin_repeat 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 125 0 0 80 8 9.09091 GNRH1 0 genome.wustl.edu 37 8 25280807 25280807 + Missense_Mutation SNP G G T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 8 25280807 25280807 G T SNP GNRH1 ENST00000276414 human ensembl 74_37 -1 known missense c.40 p.L14M 0.021 NULL pfam_GnRH,prints_Gonadoliberin_I_precursor - no_errors GNRH1 HGNC ENSG00000147437 141 1 0.704225 93 12 11.4286 DUSP26 0 genome.wustl.edu 37 8 33449592 33449592 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 8 33449592 33449592 C T SNP DUSP26 ENST00000256261 human ensembl 74_37 -1 known missense c.575 p.R192Q 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famA,prints_Atypical_DUSP - no_errors DUSP26 HGNC ENSG00000133878 81 0 0 68 6 8.10811 OPRK1 0 genome.wustl.edu 37 8 54163414 54163414 + Missense_Mutation SNP T T C TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 8 54163414 54163414 T C SNP OPRK1 ENST00000265572 human ensembl 74_37 -1 known missense c.184 p.I62V 1.000 prints_Kappa_opi_rcpt,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Kappa_opi_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_Somatstn_rcpt,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors OPRK1 HGNC ENSG00000082556 70 0 0 33 4 10.8108 XKR4 0 genome.wustl.edu 37 8 56436682 56436682 + Nonsense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 8 56436682 56436682 C T SNP XKR4 ENST00000327381 human ensembl 74_37 +1 known nonsense c.1849 p.R617* 0.997 NULL pfam_Transport_prot_XK - no_errors XKR4 HGNC ENSG00000206579 143 0 0 108 7 6.08696 RPS20 0 genome.wustl.edu 37 8 56986648 56986648 + Missense_Mutation SNP G G T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 8 56986648 56986648 G T SNP RPS20 ENST00000009589 human ensembl 74_37 -1 known missense c.74 p.T25K 1.000 pfam_Ribosomal_S10_dom,superfamily_Ribosomal_S10_dom,prints_Ribosomal_S10,tigrfam_Ribosomal_S10_euk/arc pfam_Ribosomal_S10_dom,superfamily_Ribosomal_S10_dom,prints_Ribosomal_S10,tigrfam_Ribosomal_S10_euk/arc - no_errors RPS20 HGNC ENSG00000008988 177 1 0.561798 94 51 35.1724 SGK223 0 genome.wustl.edu 37 8 8176049 8176049 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 8 8176049 8176049 C T SNP SGK223 ENST00000330777 human ensembl 74_37 -1 known missense c.3836 p.R1279Q 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 SGK223 Uniprot_gn ENSG00000182319 45 0 0 33 6 15.3846 NR4A3 0 genome.wustl.edu 37 9 102590482 102590482 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 9 102590482 102590482 C T SNP NR4A3 ENST00000330847 human ensembl 74_37 +1 known missense c.191 p.T64M 1.000 prints_Nuc_orph_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_NOR1_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors NR4A3 HGNC ENSG00000119508 164 0 0 75 10 11.7647 NIPSNAP3B 0 genome.wustl.edu 37 9 107533147 107533147 + Missense_Mutation SNP G G T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 9 107533147 107533147 G T SNP NIPSNAP3B ENST00000374762 human ensembl 74_37 +1 known missense c.448 p.V150F 0.475 pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel - no_errors NIPSNAP3B HGNC ENSG00000165028 154 0 0 66 16 19.5122 OR1B1 0 genome.wustl.edu 37 9 125391409 125391409 + Silent SNP A A G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 9 125391409 125391409 A G SNP OR1B1 ENST00000304833 human ensembl 74_37 -1 known silent c.406 p.L136 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1B1 HGNC ENSG00000171484 81 0 0 31 5 13.8889 DENND1A 0 genome.wustl.edu 37 9 126146189 126146189 + Silent SNP C C G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 9 126146189 126146189 C G SNP DENND1A ENST00000394219 human ensembl 74_37 -1 known silent c.1614 p.P538 0.071 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 DENND1A HGNC ENSG00000119522 114 1 0.869565 50 12 19.3548 POMT1 0 genome.wustl.edu 37 9 134385511 134385511 + RNA SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 9 134385511 134385511 G A SNP POMT1 ENST00000462375 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors POMT1 HGNC ENSG00000130714 32 0 0 9 4 30.7692 GLT6D1 0 genome.wustl.edu 37 9 138518015 138518015 + Missense_Mutation SNP C C G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 9 138518015 138518015 C G SNP GLT6D1 ENST00000371763 human ensembl 74_37 -1 known missense c.157 p.A53P 0.987 pfam_Glyco_trans_6 pfam_Glyco_trans_6 - no_errors GLT6D1 HGNC ENSG00000204007 169 1 0.588235 69 17 19.7674 ANAPC2 0 genome.wustl.edu 37 9 140074684 140074684 + Missense_Mutation SNP C C A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 9 140074684 140074684 C A SNP ANAPC2 ENST00000323927 human ensembl 74_37 -1 known missense c.1839 p.E613D 0.622 pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_APC_su2_C,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology - no_errors ANAPC2 HGNC ENSG00000176248 74 0 0 47 4 7.84314 FREM1 0 genome.wustl.edu 37 9 14859271 14859271 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 9 14859271 14859271 G A SNP FREM1 ENST00000380881 human ensembl 74_37 -1 known missense c.541 p.R181W 0.000 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 166 0 0 74 19 20.4301 MLLT3 0 genome.wustl.edu 37 9 20620722 20620722 + Missense_Mutation SNP T T C TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 9 20620722 20620722 T C SNP MLLT3 ENST00000380338 human ensembl 74_37 -1 known missense c.124 p.S42G 1.000 pfam_YEATS,pfscan_YEATS pfam_YEATS,pfscan_YEATS - no_errors MLLT3 HGNC ENSG00000171843 202 0 0 135 9 6.25 TAF1L 0 genome.wustl.edu 37 9 32634323 32634323 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 9 32634323 32634323 C T SNP TAF1L ENST00000242310 human ensembl 74_37 -1 known missense c.1255 p.E419K 1.000 pirsf_TAF1_animal 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 409 0 0 228 25 9.88142 FRMPD1 0 genome.wustl.edu 37 9 37740286 37740286 + Silent SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 9 37740286 37740286 C T SNP FRMPD1 ENST00000377765 human ensembl 74_37 +1 known silent c.1761 p.S587 0.003 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 79 0 0 52 4 7.14286 NTRK2 0 genome.wustl.edu 37 9 87339221 87339221 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 9 87339221 87339221 C T SNP NTRK2 ENST00000277120 human ensembl 74_37 +1 known missense c.803 p.A268V 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_Tyr_kinase_NGF_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,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_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2 - no_errors NTRK2 HGNC ENSG00000148053 278 0 0 138 50 26.5957 NTRK2 0 genome.wustl.edu 37 9 87549188 87549188 + Missense_Mutation SNP A A C TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 9 87549188 87549188 A C SNP NTRK2 ENST00000277120 human ensembl 74_37 +1 known missense c.1745 p.K582T 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_Prot_kinase_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,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_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2 - no_errors NTRK2 HGNC ENSG00000148053 80 0 0 54 6 10 BICD2 0 genome.wustl.edu 37 9 95491364 95491364 + Missense_Mutation SNP A A G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 9 95491364 95491364 A G SNP BICD2 ENST00000356884 human ensembl 74_37 -1 known missense c.395 p.L132P 1.000 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc - no_errors BICD2 HGNC ENSG00000185963 98 0 0 45 4 8.16327 PTCH1 0 genome.wustl.edu 37 9 98278952 98278952 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 9 98278952 98278952 C T SNP PTCH1 ENST00000375274 human ensembl 74_37 -1 known missense c.151 p.G51R 0.000 NULL pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 91 0 0 49 5 9.25926 HTATSF1 0 genome.wustl.edu 37 X 135581814 135581814 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 X 135581814 135581814 G A SNP HTATSF1 ENST00000218364 human ensembl 74_37 +1 known missense c.244 p.A82T 0.121 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HTATSF1 HGNC ENSG00000102241 326 0 0 165 24 12.6984 FMR1 0 genome.wustl.edu 37 X 147026475 147026475 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 X 147026475 147026475 G A SNP FMR1 ENST00000370475 human ensembl 74_37 +1 known missense c.1558 p.E520K 1.000 pfam_Frag_X_MRP_fam pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FMR1 HGNC ENSG00000102081 32 0 0 19 4 17.3913 PNMA5 0 genome.wustl.edu 37 X 152159298 152159298 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 X 152159298 152159298 C T SNP PNMA5 ENST00000361887 human ensembl 74_37 -1 known missense c.845 p.R282H 0.000 NULL NULL - no_errors PNMA5 HGNC ENSG00000198883 146 0 0 75 4 5.06329 ATP2B3 0 genome.wustl.edu 37 X 152823642 152823642 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 X 152823642 152823642 G A SNP ATP2B3 ENST00000263519 human ensembl 74_37 +1 known missense c.2506 p.V836I 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_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_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B3 HGNC ENSG00000067842 211 0 0 78 36 31.5789 POLA1 0 genome.wustl.edu 37 X 24757524 24757524 + Silent SNP C C A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 X 24757524 24757524 C A SNP POLA1 ENST00000379068 human ensembl 74_37 +1 known silent c.2073 p.T691 0.996 pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,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 POLA1 HGNC ENSG00000101868 196 1 0.507614 87 13 13 DMD 0 genome.wustl.edu 37 X 31191669 31191669 + Missense_Mutation SNP G G T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 X 31191669 31191669 G T SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.10315 p.H3439N 1.000 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 116 0 0 43 8 15.6863 FAM47A 0 genome.wustl.edu 37 X 34149433 34149433 + Silent SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 X 34149433 34149433 C T SNP FAM47A ENST00000346193 human ensembl 74_37 -1 known silent c.963 p.P321 0.493 NULL NULL - no_errors FAM47A HGNC ENSG00000185448 69 0 0 42 10 19.2308 PRKX 0 genome.wustl.edu 37 X 3573440 3573440 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 X 3573440 3573440 G A SNP PRKX ENST00000262848 human ensembl 74_37 -1 known missense c.349 p.H117Y 0.999 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,smart_AGC-kinase_C,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKX HGNC ENSG00000183943 63 0 0 47 4 7.84314 CDK16 0 genome.wustl.edu 37 X 47088011 47088011 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 X 47088011 47088011 C T SNP CDK16 ENST00000276052 human ensembl 74_37 +1 known missense c.1643 p.A548V 0.965 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 CDK16 HGNC ENSG00000102225 149 0 0 83 7 7.77778 GPKOW 0 genome.wustl.edu 37 X 48972594 48972594 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 X 48972594 48972594 G A SNP GPKOW ENST00000156109 human ensembl 74_37 -1 known missense c.997 p.R333W 1.000 NULL pfam_KOW,pfam_G_patch_dom,superfamily_Translation_prot_SH3-like,smart_G_patch_dom,smart_KOW,pfscan_G_patch_dom - no_errors GPKOW HGNC ENSG00000068394 105 0 0 67 4 5.6338 MSN 0 genome.wustl.edu 37 X 64947739 64947739 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 X 64947739 64947739 G A SNP MSN ENST00000360270 human ensembl 74_37 +1 known missense c.160 p.G54S 1.000 pirsf_ERM,pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain - no_errors MSN HGNC ENSG00000147065 92 0 0 70 9 11.3924 MSN 0 genome.wustl.edu 37 X 64959699 64959699 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 X 64959699 64959699 C T SNP MSN ENST00000360270 human ensembl 74_37 +1 known missense c.1678 p.R560C 1.000 pirsf_ERM,pfam_ERM_C_dom,superfamily_Moesin_tail,prints_Ez/rad/moesin_like pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain - no_errors MSN HGNC ENSG00000147065 207 0 0 95 10 9.52381 HEPH 0 genome.wustl.edu 37 X 65476119 65476119 + Missense_Mutation SNP C C T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 X 65476119 65476119 C T SNP HEPH ENST00000519389 human ensembl 74_37 +1 known missense c.3005 p.P1002L 0.010 superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPH HGNC ENSG00000089472 149 0 0 60 19 24.0506 P2RY4 0 genome.wustl.edu 37 X 69478801 69478801 + Missense_Mutation SNP C C G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 X 69478801 69478801 C G SNP P2RY4 ENST00000374519 human ensembl 74_37 -1 known missense c.674 p.R225P 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y4_rcpt,prints_GPCR_Rhodpsn,prints_P2Y2_rcpt - no_errors P2RY4 HGNC ENSG00000186912 80 0 0 31 12 27.907 HDAC8 0 genome.wustl.edu 37 X 71792661 71792661 + RNA SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 X 71792661 71792661 G A SNP HDAC8 ENST00000478743 human ensembl 74_37 -1 known rna NULL NULL 0.716 - - - no_errors HDAC8 HGNC ENSG00000147099 36 0 0 12 6 33.3333 CDX4 0 genome.wustl.edu 37 X 72667186 72667186 + Missense_Mutation SNP G G T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 X 72667186 72667186 G T SNP CDX4 ENST00000373514 human ensembl 74_37 +1 known missense c.97 p.G33W 0.010 pfam_Caudal_activation_dom pfam_Caudal_activation_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors CDX4 HGNC ENSG00000131264 51 0 0 43 5 10.4167 MAGEE1 0 genome.wustl.edu 37 X 75650837 75650837 + Missense_Mutation SNP G G C TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 X 75650837 75650837 G C SNP MAGEE1 ENST00000361470 human ensembl 74_37 +1 known missense c.2514 p.L838F 0.238 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 46 0 0 26 6 18.75 ATP7A 0 genome.wustl.edu 37 X 77245353 77245353 + Missense_Mutation SNP T T C TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 X 77245353 77245353 T C SNP ATP7A ENST00000341514 human ensembl 74_37 +1 known missense c.1235 p.L412P 1.000 pfam_HeavyMe-assoc_HMA,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,tigrfam_HMA_Cu_ion-bd 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,prints_HG_scavenger,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd - no_errors ATP7A HGNC ENSG00000165240 186 1 0.534759 170 19 10.0529 P2RY10 0 genome.wustl.edu 37 X 78216864 78216864 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 X 78216864 78216864 G A SNP P2RY10 ENST00000171757 human ensembl 74_37 +1 known missense c.847 p.A283T 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors P2RY10 HGNC ENSG00000078589 394 1 0.253165 234 31 11.6981 TBX22 0 genome.wustl.edu 37 X 79279618 79279618 + Missense_Mutation SNP A A G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 X 79279618 79279618 A G SNP TBX22 ENST00000373294 human ensembl 74_37 +1 known missense c.413 p.Y138C 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX22 HGNC ENSG00000122145 191 0 0 80 8 9.09091 BRWD3 0 genome.wustl.edu 37 X 79959053 79959053 + Nonsense_Mutation SNP C C A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 X 79959053 79959053 C A SNP BRWD3 ENST00000373275 human ensembl 74_37 -1 known nonsense c.2761 p.E921* 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 36 0 0 18 5 21.7391 CPXCR1 0 genome.wustl.edu 37 X 88008424 88008424 + Nonsense_Mutation SNP T T A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 X 88008424 88008424 T A SNP CPXCR1 ENST00000276127 human ensembl 74_37 +1 known nonsense c.9 p.Y3* 0.747 NULL pfscan_Znf_C2H2 - no_errors CPXCR1 HGNC ENSG00000147183 19 0 0 10 4 28.5714 TGIF2LX 0 genome.wustl.edu 37 X 89177431 89177431 + Missense_Mutation SNP G G A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 X 89177431 89177431 G A SNP TGIF2LX ENST00000283891 human ensembl 74_37 +1 known missense c.347 p.R116H 0.000 superfamily_Homeodomain-like pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors TGIF2LX HGNC ENSG00000153779 189 0 0 100 8 7.40741 ADAM30 0 genome.wustl.edu 37 1 120437094 120437095 + Frame_Shift_Ins INS - - T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 1 120437094 120437095 - T INS ADAM30 ENST00000369400 human ensembl 74_37 -1 known frame_shift_ins c.1866_1865 p.N622fs 0.003:0.000 smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM30 HGNC ENSG00000134249 156 0 0 78 7 8.23529 ADAM15 0 genome.wustl.edu 37 1 155033916 155033916 + Frame_Shift_Del DEL C C - TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 1 155033916 155033916 C - DEL ADAM15 ENST00000356955 human ensembl 74_37 +1 known frame_shift_del c.2303 p.P770fs 0.020 NULL pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,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 ADAM15 HGNC ENSG00000143537 54 0 0 42 6 12.5 PKLR 0 genome.wustl.edu 37 1 155264957 155264957 + Frame_Shift_Del DEL C C - TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 1 155264957 155264957 C - DEL PKLR ENST00000342741 human ensembl 74_37 -1 known frame_shift_del c.644 p.G215fs 1.000 pfam_Pyrv_Knase_brl,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase-like_insert_dom,tigrfam_Pyr_Knase pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase - no_errors PKLR HGNC ENSG00000143627 152 0 0 73 16 17.9775 DOCK7 0 genome.wustl.edu 37 1 62941104 62941104 + RNA DEL A A - TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 1 62941104 62941104 A - DEL DOCK7 ENST00000467758 human ensembl 74_37 -1 known rna NULL NULL 0.057 - - - no_errors DOCK7 HGNC ENSG00000116641 34 0 0 22 4 15.3846 WDR78 0 genome.wustl.edu 37 1 67292679 67292680 + Frame_Shift_Ins INS - - A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 1 67292679 67292680 - A INS WDR78 ENST00000371026 human ensembl 74_37 -1 known frame_shift_ins c.2163_2162 p.L721fs 1.000:1.000 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 WDR78 HGNC ENSG00000152763 272 0 0 130 15 10.3448 ADD3 0 genome.wustl.edu 37 10 111893350 111893350 + Frame_Shift_Del DEL A A - TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 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 238 1 0.41841 83 15 15.3061 DNA2 0 genome.wustl.edu 37 10 70182521 70182521 + Frame_Shift_Del DEL A A - TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 10 70182521 70182521 A - DEL DNA2 ENST00000399180 human ensembl 74_37 -1 known frame_shift_del c.2593 p.S865fs 1.000 superfamily_P-loop_NTPase pfam_DNA_replication_fac_Dna2_N,superfamily_P-loop_NTPase - no_errors DNA2 HGNC ENSG00000138346 64 0 0 31 5 13.8889 PTEN 0 genome.wustl.edu 37 10 89717770 89717770 + Frame_Shift_Del DEL A A - TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 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 91 0 0 72 6 7.69231 KCNA4 0 genome.wustl.edu 37 11 30033563 30033563 + Frame_Shift_Del DEL A A - TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 11 30033563 30033563 A - DEL KCNA4 ENST00000328224 human ensembl 74_37 -1 known frame_shift_del c.663 p.F221fs 0.902 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA4 HGNC ENSG00000182255 156 0 0 75 11 12.7907 CTNND1 0 genome.wustl.edu 37 11 57577664 57577664 + Frame_Shift_Del DEL A A - TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 11 57577664 57577664 A - DEL CTNND1 ENST00000399050 human ensembl 74_37 +1 known frame_shift_del c.2519 p.E842fs 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND1 HGNC ENSG00000198561 135 0 0 48 6 11.1111 SLC15A3 0 genome.wustl.edu 37 11 60704808 60704810 + In_Frame_Del DEL GAA GAA - TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 11 60704808 60704810 GAA - DEL SLC15A3 ENST00000227880 human ensembl 74_37 -1 known in_frame_del c.1629_1627 p.F543in_frame_del 1.000:1.000:1.000 superfamily_MFS_dom_general_subst_transpt pfam_POT_fam,pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC15A3 HGNC ENSG00000110446 163 0 0 74 6 7.5 SCARNA9 0 genome.wustl.edu 37 11 93454921 93454921 + RNA DEL G G - TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 11 93454921 93454921 G - DEL SCARNA9 ENST00000530422 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors SCARNA9 HGNC ENSG00000254911 33 0 0 32 4 11.1111 VPS37B 0 genome.wustl.edu 37 12 123351892 123351892 + Frame_Shift_Del DEL G G - TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 12 123351892 123351892 G - DEL VPS37B ENST00000267202 human ensembl 74_37 -1 known frame_shift_del c.629 p.P210fs 0.609 NULL pfam_Mod_r - no_errors VPS37B HGNC ENSG00000139722 29 0 0 20 6 23.0769 LINC00477 0 genome.wustl.edu 37 12 24736562 24736562 + RNA DEL A A - TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 12 24736562 24736562 A - DEL LINC00477 ENST00000483544 human ensembl 74_37 -1 known rna NULL NULL 0.301 - - - no_errors LINC00477 HGNC ENSG00000197503 174 0 0 73 7 8.75 MYO1A 0 genome.wustl.edu 37 12 57422573 57422573 + Frame_Shift_Del DEL T T - TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 12 57422573 57422573 T - DEL MYO1A ENST00000300119 human ensembl 74_37 -1 known frame_shift_del c.3098 p.K1033fs 1.000 pfam_Myosin_tail_2 pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO1A HGNC ENSG00000166866 168 1 0.591716 101 13 11.4035 ARID4A 0 genome.wustl.edu 37 14 58831119 58831119 + Frame_Shift_Del DEL T T - TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 14 58831119 58831119 T - DEL ARID4A ENST00000355431 human ensembl 74_37 +1 known frame_shift_del c.2312 p.F772fs 0.997 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 139 0 0 74 6 7.5 SHF 0 genome.wustl.edu 37 15 45491037 45491039 + In_Frame_Del DEL TTC TTC - TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 TTC TTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 15 45491037 45491039 TTC - DEL SHF ENST00000318390 human ensembl 74_37 -1 known in_frame_del c.407_405 p.K136in_frame_del 0.000:0.000:0.000 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SHF HGNC ENSG00000138606 34 0 0 22 2 8.33333 TRIP4 0 genome.wustl.edu 37 15 64686305 64686305 + Frame_Shift_Del DEL A A - TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 15 64686305 64686305 A - DEL TRIP4 ENST00000261884 human ensembl 74_37 +1 known frame_shift_del c.262 p.D90fs 0.948 NULL pfam_ASCH_domain,pfam_Znf_C2HC5,superfamily_PUA-like_domain - no_errors TRIP4 HGNC ENSG00000103671 58 0 0 46 6 11.5385 CLK3 0 genome.wustl.edu 37 15 74918310 74918311 + Splice_Site INS - - T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 15 74918310 74918311 - T INS CLK3 ENST00000395066 human ensembl 74_37 +1 known splice_site_ins c.1261+1_1261+1 e7+1 1.000:1.000 - - - no_errors CLK3 HGNC ENSG00000179335 154 0 0 62 19 23.4568 ABCC1 0 genome.wustl.edu 37 16 16101752 16101753 + Frame_Shift_Ins INS - - T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 16 16101752 16101753 - T INS ABCC1 ENST00000399408 human ensembl 74_37 +1 known frame_shift_ins c.128_129 p.Y45fs 0.999:0.003 tigrfam_Multidrug-R_assoc 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,tigrfam_Multidrug-R_assoc - no_errors ABCC1 HGNC ENSG00000103222 175 0 0 94 9 8.73786 NAGPA 0 genome.wustl.edu 37 16 5083678 5083679 + Frame_Shift_Del DEL GC GC - TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 GC GC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 16 5083678 5083679 GC - DEL NAGPA ENST00000312251 human ensembl 74_37 -1 known frame_shift_del c.138_137 p.R46fs 0.004:0.541 NULL pfam_DUF2233,pfscan_EG-like_dom - no_errors NAGPA HGNC ENSG00000103174 61 0 0 13 2 13.3333 ENSG00000250685 0 genome.wustl.edu 37 16 84228613 84228613 + RNA DEL T T - TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 16 84228613 84228613 T - DEL ENSG00000250685 ENST00000536986 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors RP11-486L19.2 Clone_based_vega_gene ENSG00000250685 88 0 0 45 4 8.16327 FLOT2 0 genome.wustl.edu 37 17 27211272 27211272 + Frame_Shift_Del DEL C C - TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 27211272 27211272 C - DEL FLOT2 ENST00000394908 human ensembl 74_37 -1 known frame_shift_del c.193 p.V65fs 1.000 pfam_Band_7 pfam_Band_7,smart_Band_7 - no_errors FLOT2 HGNC ENSG00000132589 166 0 0 66 6 8.33333 XYLT2 0 genome.wustl.edu 37 17 48434433 48434434 + Frame_Shift_Ins INS - - T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 48434433 48434434 - T INS XYLT2 ENST00000017003 human ensembl 74_37 +1 known frame_shift_ins c.1761_1762 p.L587fs 1.000:1.000 pfam_XylT pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 88 0 0 32 4 11.1111 BPTF 0 genome.wustl.edu 37 17 65822234 65822236 + In_Frame_Del DEL GAG GAG - TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 65822234 65822236 GAG - DEL BPTF ENST00000321892 human ensembl 74_37 +1 known in_frame_del c.394_396 p.E135in_frame_del 1.000:1.000:0.941 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 20 0 0 12 2 14.2857 TBCD 0 genome.wustl.edu 37 17 80887103 80887103 + Frame_Shift_Del DEL C C - TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 17 80887103 80887103 C - DEL TBCD ENST00000355528 human ensembl 74_37 +1 known frame_shift_del c.2808 p.H938fs 0.239 pfam_Tubulin_specific_chaperoneD_C,superfamily_ARM-type_fold pfam_Tubulin_specific_chaperoneD_C,superfamily_ARM-type_fold - no_errors TBCD HGNC ENSG00000141556 66 0 0 30 4 11.7647 FHOD3 0 genome.wustl.edu 37 18 34205516 34205516 + Frame_Shift_Del DEL C C - TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 18 34205516 34205516 C - DEL FHOD3 ENST00000257209 human ensembl 74_37 +1 known frame_shift_del c.1000 p.S336fs 0.999 superfamily_ARM-type_fold pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD3 HGNC ENSG00000134775 82 0 0 65 6 8.4507 EPG5 0 genome.wustl.edu 37 18 43459143 43459143 + Frame_Shift_Del DEL A A - TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 18 43459143 43459143 A - DEL EPG5 ENST00000282041 human ensembl 74_37 -1 known frame_shift_del c.5704 p.Y1902fs 1.000 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 194 0 0 91 10 9.90099 COL5A3 0 genome.wustl.edu 37 19 10112500 10112501 + Frame_Shift_Ins INS - - G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 19 10112500 10112501 - G INS COL5A3 ENST00000264828 human ensembl 74_37 -1 known frame_shift_ins c.907_906 p.T302fs 0.001:0.001 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 210 0 0 121 10 7.63359 ZNF587B 0 genome.wustl.edu 37 19 58353885 58353885 + Frame_Shift_Del DEL T T - TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 19 58353885 58353885 T - DEL ZNF587B ENST00000594901 human ensembl 74_37 +1 novel frame_shift_del c.1843 p.F615fs 0.313 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 ZNF587B HGNC ENSG00000269343 69 0 0 41 5 10.8696 ADAMTS10 0 genome.wustl.edu 37 19 8651552 8651552 + Frame_Shift_Del DEL G G - TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 19 8651552 8651552 G - DEL ADAMTS10 ENST00000270328 human ensembl 74_37 -1 known frame_shift_del c.2293 p.Q765fs 0.987 pfam_ADAM_spacer1 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 151 1 0.657895 74 11 12.9412 ACVR2A 0 genome.wustl.edu 37 2 148683686 148683686 + Frame_Shift_Del DEL A A - TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 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 184 0 0 76 42 35.5932 SGOL2 0 genome.wustl.edu 37 2 201436992 201436992 + Frame_Shift_Del DEL A A - TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 2 201436992 201436992 A - DEL SGOL2 ENST00000357799 human ensembl 74_37 +1 known frame_shift_del c.1923 p.G644fs 0.002 NULL NULL - no_errors SGOL2 HGNC ENSG00000163535 251 0 0 125 7 5.30303 FOSL2 0 genome.wustl.edu 37 2 28634855 28634860 + In_Frame_Del DEL AGAAGG AGAAGG - TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 AGAAGG AGAAGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 2 28634855 28634860 AGAAGG - DEL FOSL2 ENST00000264716 human ensembl 74_37 +1 known in_frame_del c.521_526 p.EK178in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000 pfam_bZIP,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors FOSL2 HGNC ENSG00000075426 111 0 0 69 7 9.21053 ZFP36L2 0 genome.wustl.edu 37 2 43452623 43452623 + Frame_Shift_Del DEL C C - TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 2 43452623 43452623 C - DEL ZFP36L2 ENST00000282388 human ensembl 74_37 -1 known frame_shift_del c.320 p.G107fs 1.000 pfam_Tis11B_N pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L2 HGNC ENSG00000152518 38 0 0 9 3 25 MSH2 0 genome.wustl.edu 37 2 47630387 47630387 + Frame_Shift_Del DEL C C - TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 2 47630387 47630387 C - DEL MSH2 ENST00000233146 human ensembl 74_37 +1 known frame_shift_del c.57 p.F19fs 0.998 pfam_DNA_mismatch_repair_MutS-lik_N,pirsf_DNA_mismatch_repair_MSH2 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_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_MSH2 - no_errors MSH2 HGNC ENSG00000095002 23 0 0 4 2 33.3333 CELSR1 0 genome.wustl.edu 37 22 46931227 46931227 + Frame_Shift_Del DEL C C - TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 22 46931227 46931227 C - DEL CELSR1 ENST00000262738 human ensembl 74_37 -1 known frame_shift_del c.1841 p.G614fs 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 69 0 0 38 4 9.52381 POLQ 0 genome.wustl.edu 37 3 121207489 121207489 + Frame_Shift_Del DEL A A - TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 3 121207489 121207489 A - DEL POLQ ENST00000264233 human ensembl 74_37 -1 known frame_shift_del c.4289 p.L1430fs 0.152 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 81 0 0 52 12 18.75 RBM6 0 genome.wustl.edu 37 3 50107922 50107922 + Frame_Shift_Del DEL A A - TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 3 50107922 50107922 A - DEL RBM6 ENST00000266022 human ensembl 74_37 +1 known frame_shift_del c.3053 p.K1019fs 1.000 NULL pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC ENSG00000004534 278 0 0 102 7 6.42202 TRAM1L1 0 genome.wustl.edu 37 4 118005517 118005517 + Frame_Shift_Del DEL T T - TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 4 118005517 118005517 T - DEL TRAM1L1 ENST00000310754 human ensembl 74_37 -1 known frame_shift_del c.1033 p.R345fs 1.000 pirsf_Translocation_assoc_membrane pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom - no_errors TRAM1L1 HGNC ENSG00000174599 313 1 0.318471 151 22 12.7168 KLF3 0 genome.wustl.edu 37 4 38691454 38691454 + Frame_Shift_Del DEL C C - TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 4 38691454 38691454 C - DEL KLF3 ENST00000261438 human ensembl 74_37 +1 known frame_shift_del c.649 p.L219fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF3 HGNC ENSG00000109787 261 0 0 184 10 5.15464 SLCO6A1 0 genome.wustl.edu 37 5 101794149 101794149 + Frame_Shift_Del DEL A A - TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 5 101794149 101794149 A - DEL SLCO6A1 ENST00000379807 human ensembl 74_37 -1 known frame_shift_del c.1068 p.F356fs 0.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO6A1 HGNC ENSG00000205359 191 0 0 119 7 5.55556 CDH10 0 genome.wustl.edu 37 5 24492972 24492973 + Frame_Shift_Ins INS - - A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 5 24492972 24492973 - A INS CDH10 ENST00000264463 human ensembl 74_37 -1 known frame_shift_ins c.1578_1577 p.S527fs 1.000:1.000 pfam_Cadherin,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 269 0 0 232 23 9.01961 EPB41L2 0 genome.wustl.edu 37 6 131277325 131277326 + Frame_Shift_Ins INS - - T TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 6 131277325 131277326 - T INS EPB41L2 ENST00000337057 human ensembl 74_37 -1 known frame_shift_ins c.301_300 p.E100fs 0.988:0.994 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain - no_errors EPB41L2 HGNC ENSG00000079819 242 0 0 144 16 10 HSP90AB1 0 genome.wustl.edu 37 6 44219246 44219247 + Frame_Shift_Ins INS - - A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 6 44219246 44219247 - A INS HSP90AB1 ENST00000353801 human ensembl 74_37 +1 known frame_shift_ins c.1215_1216 p.N406fs 0.992:1.000 pfam_Hsp90_fam,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Hsp90_fam pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pirsf_Hsp90_fam,prints_Hsp90_N - no_errors HSP90AB1 HGNC ENSG00000096384 41 0 0 19 5 20.8333 NOS3 0 genome.wustl.edu 37 7 150698398 150698398 + Frame_Shift_Del DEL G G - TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 7 150698398 150698398 G - DEL NOS3 ENST00000297494 human ensembl 74_37 +1 known frame_shift_del c.1313 p.G440fs 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,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS3 HGNC ENSG00000164867 151 0 0 94 10 9.61538 GET4 0 genome.wustl.edu 37 7 931927 931927 + Frame_Shift_Del DEL A A - TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 7 931927 931927 A - DEL GET4 ENST00000265857 human ensembl 74_37 +1 known frame_shift_del c.618 p.N208fs 0.933 pfam_UPF0363 pfam_UPF0363 - no_errors GET4 HGNC ENSG00000239857 336 0 0 187 11 5.55556 C9orf152 0 genome.wustl.edu 37 9 112963554 112963554 + Frame_Shift_Del DEL G G - TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 9 112963554 112963554 G - DEL C9orf152 ENST00000400613 human ensembl 74_37 -1 known frame_shift_del c.394 p.Q132fs 0.993 NULL NULL - no_errors C9orf152 HGNC ENSG00000188959 300 0 0 170 10 5.55556 FOXD4 0 genome.wustl.edu 37 9 117070 117070 + Frame_Shift_Del DEL G G - TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 9 117070 117070 G - DEL FOXD4 ENST00000382500 human ensembl 74_37 -1 known frame_shift_del c.1050 p.C351fs 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4 HGNC ENSG00000170122 336 0 0 150 9 5.66038 NUP214 0 genome.wustl.edu 37 9 134007993 134007993 + Frame_Shift_Del DEL A A - TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 9 134007993 134007993 A - DEL NUP214 ENST00000451030 human ensembl 74_37 +1 known frame_shift_del c.674 p.V228fs 1.000 NULL smart_WD40_repeat - no_errors NUP214 HGNC ENSG00000126883 125 0 0 62 8 11.4286 SETX 0 genome.wustl.edu 37 9 135158547 135158548 + RNA INS - - A TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 9 135158547 135158548 - A INS SETX ENST00000474172 human ensembl 74_37 -1 known rna NULL NULL 0.028:0.010 - - - no_errors SETX HGNC ENSG00000107290 15 0 0 12 6 33.3333 SETX 0 genome.wustl.edu 37 9 135158548 135158548 + RNA DEL A A - TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 9 135158548 135158548 A - DEL SETX ENST00000474172 human ensembl 74_37 -1 known rna NULL NULL 0.010 - - - no_errors SETX HGNC ENSG00000107290 15 0 0 13 5 27.7778 RUSC2 0 genome.wustl.edu 37 9 35547974 35547974 + Frame_Shift_Del DEL C C - TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 9 35547974 35547974 C - DEL RUSC2 ENST00000361226 human ensembl 74_37 +1 known frame_shift_del c.1456 p.N488fs 1.000 NULL pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC2 HGNC ENSG00000198853 170 0 0 105 6 5.40541 BCORL1 0 genome.wustl.edu 37 X 129146962 129146963 + Frame_Shift_Ins INS - - G TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 X 129146962 129146963 - G INS BCORL1 ENST00000303743 human ensembl 74_37 +1 known frame_shift_ins c.214_215 p.A74fs 1.000:1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 374 0 0 147 9 5.76923 ATP7A 0 genome.wustl.edu 37 X 77268376 77268376 + Frame_Shift_Del DEL T T - TCGA-BR-8284-01A-11D-2340-08 TCGA-BR-8284-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e07f553-454d-480d-8ae8-69c085d95ace cb783f9c-9839-4d69-a4f5-56988bcb8b32 X 77268376 77268376 T - DEL ATP7A ENST00000341514 human ensembl 74_37 +1 known frame_shift_del c.2173 p.F726fs 1.000 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,prints_HG_scavenger,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd - no_errors ATP7A HGNC ENSG00000165240 154 0 0 133 10 6.99301