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 RORC 0 genome.wustl.edu 37 1 151785769 151785769 + Missense_Mutation SNP G G A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 1 151785769 151785769 G A SNP RORC ENST00000392697 human ensembl 74_37 -1 known missense c.1282 p.R428C 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt,pfscan_Znf_hrmn_rcpt - no_errors RORC HGNC ENSG00000143365 316 0 0 255 51 16.6667 GBA 0 genome.wustl.edu 37 1 155209829 155209829 + Missense_Mutation SNP G G A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 1 155209829 155209829 G A SNP GBA ENST00000327247 human ensembl 74_37 -1 known missense c.155 p.S52L 0.989 pfam_Glyco_hydro_30,prints_Glyco_hydro_30 pfam_Glyco_hydro_30,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_30 - no_errors GBA HGNC ENSG00000177628 51 0 0 36 8 18.1818 RSC1A1 0 genome.wustl.edu 37 1 15987376 15987376 + Missense_Mutation SNP G G C TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 1 15987376 15987376 G C SNP RSC1A1 ENST00000345034 human ensembl 74_37 +1 known missense c.1013 p.C338S 0.179 NULL superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors RSC1A1 HGNC ENSG00000215695 51 0 0 50 3 5.66038 PAPPA2 0 genome.wustl.edu 37 1 176525566 176525566 + Missense_Mutation SNP G G C TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 1 176525566 176525566 G C SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known missense c.108 p.E36D 0.088 NULL pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 139 0 0 101 8 7.33945 HMCN1 0 genome.wustl.edu 37 1 186099205 186099205 + Nonsense_Mutation SNP A A T TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 1 186099205 186099205 A T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known nonsense c.13012 p.K4338* 1.000 pfam_Ig_I-set,smart_Ig_sub pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 78 0 0 59 4 6.34921 TROVE2 0 genome.wustl.edu 37 1 193038590 193038590 + Missense_Mutation SNP A A C TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 1 193038590 193038590 A C SNP TROVE2 ENST00000367441 human ensembl 74_37 +1 known missense c.406 p.K136Q 1.000 pfam_TROVE,pfscan_TROVE pfam_TROVE,pfscan_TROVE - no_errors TROVE2 HGNC ENSG00000116747 93 0 0 54 15 21.7391 ENSG00000226862 0 genome.wustl.edu 37 1 202573452 202573452 + RNA SNP T T G TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 1 202573452 202573452 T G SNP ENSG00000226862 ENST00000428573 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-569A11.1 Clone_based_vega_gene ENSG00000226862 33 0 0 40 7 14.8936 RABIF 0 genome.wustl.edu 37 1 202850310 202850310 + Silent SNP G G A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 1 202850310 202850310 G A SNP RABIF ENST00000367262 human ensembl 74_37 -1 known silent c.168 p.D56 0.000 pfam_Mss4,superfamily_Mss4-like pfam_Mss4,superfamily_Mss4-like - no_errors RABIF HGNC ENSG00000183155 59 0 0 43 11 20.3704 KCTD3 0 genome.wustl.edu 37 1 215793440 215793440 + Missense_Mutation SNP C C T TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 1 215793440 215793440 C T SNP KCTD3 ENST00000259154 human ensembl 74_37 +1 known missense c.1928 p.T643I 0.995 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like - no_errors KCTD3 HGNC ENSG00000136636 54 0 0 54 4 6.89655 RAB3GAP2 0 genome.wustl.edu 37 1 220335565 220335565 + Missense_Mutation SNP G G C TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 1 220335565 220335565 G C SNP RAB3GAP2 ENST00000358951 human ensembl 74_37 -1 known missense c.3200 p.S1067C 1.000 NULL superfamily_WD40_repeat_dom - no_errors RAB3GAP2 HGNC ENSG00000118873 107 0 0 87 10 10.3093 TRIM17 0 genome.wustl.edu 37 1 228598776 228598776 + Silent SNP C C T TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 1 228598776 228598776 C T SNP TRIM17 ENST00000295033 human ensembl 74_37 -1 known silent c.627 p.T209 0.550 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM17 HGNC ENSG00000162931 111 0 0 66 7 9.58904 TMEM50A 0 genome.wustl.edu 37 1 25687266 25687266 + RNA SNP C C T TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 1 25687266 25687266 C T SNP TMEM50A ENST00000480937 human ensembl 74_37 +1 known rna NULL NULL 0.178 - - - no_errors TMEM50A HGNC ENSG00000183726 33 0 0 24 3 11.1111 PTAFR 0 genome.wustl.edu 37 1 28477276 28477276 + Missense_Mutation SNP G G T TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 1 28477276 28477276 G T SNP PTAFR ENST00000305392 human ensembl 74_37 -1 known missense c.257 p.P86H 0.051 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_PAF_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_PAF_rcpt,prints_GPCR_Rhodpsn - no_errors PTAFR HGNC ENSG00000169403 89 0 0 74 18 19.5652 CHD5 0 genome.wustl.edu 37 1 6202385 6202385 + Missense_Mutation SNP G G T TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 1 6202385 6202385 G T SNP CHD5 ENST00000262450 human ensembl 74_37 -1 known missense c.2239 p.H747N 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_CHD_C2,pfam_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 70 0 0 49 10 16.9492 PPRC1 0 genome.wustl.edu 37 10 103904794 103904794 + Missense_Mutation SNP A A G TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 10 103904794 103904794 A G SNP PPRC1 ENST00000278070 human ensembl 74_37 +1 known missense c.3626 p.Q1209R 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPRC1 HGNC ENSG00000148840 73 0 0 51 11 17.7419 HSPA12A 0 genome.wustl.edu 37 10 118443393 118443393 + Missense_Mutation SNP C C G TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 10 118443393 118443393 C G SNP HSPA12A ENST00000369209 human ensembl 74_37 -1 known missense c.744 p.K248N 1.000 NULL NULL - no_errors HSPA12A HGNC ENSG00000165868 62 0 0 34 9 20.9302 MMP21 0 genome.wustl.edu 37 10 127461231 127461231 + Silent SNP G G A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 10 127461231 127461231 G A SNP MMP21 ENST00000368808 human ensembl 74_37 -1 known silent c.786 p.D262 0.563 pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP21 HGNC ENSG00000154485 105 0 0 61 14 18.6667 ZMYND11 0 genome.wustl.edu 37 10 267156 267156 + Missense_Mutation SNP G G C TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 10 267156 267156 G C SNP ZMYND11 ENST00000381591 human ensembl 74_37 +1 known missense c.298 p.D100H 1.000 superfamily_Znf_FYVE_PHD,pfscan_Znf_PHD-finger pfam_PWWP_dom,pfam_Bromodomain,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND11 HGNC ENSG00000015171 156 0 0 148 27 15.4286 AGAP8 0 genome.wustl.edu 37 10 51225645 51225645 + Missense_Mutation SNP G G A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 10 51225645 51225645 G A SNP AGAP8 ENST00000425119 human ensembl 74_37 -1 known missense c.1337 p.S446L 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP8 HGNC ENSG00000174194 38 0 0 26 7 21.2121 GDI2 0 genome.wustl.edu 37 10 5808574 5808574 + Missense_Mutation SNP G G A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 10 5808574 5808574 G A SNP GDI2 ENST00000380132 human ensembl 74_37 -1 known missense c.1031 p.A344V 1.000 pfam_GDP_dissociation_inhibitor pfam_GDP_dissociation_inhibitor,prints_RabGDI,prints_GDP_dissociation_inhibitor - no_errors GDI2 HGNC ENSG00000057608 61 0 0 45 3 6.25 SFTPA2 0 genome.wustl.edu 37 10 81317845 81317845 + Silent SNP G G C TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 10 81317845 81317845 G C SNP SFTPA2 ENST00000372325 human ensembl 74_37 -1 known silent c.333 p.L111 0.781 NULL pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors SFTPA2 HGNC ENSG00000185303 292 0 0 290 19 6.14887 ATF4P4 0 genome.wustl.edu 37 11 113659993 113659993 + RNA SNP A A C TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 11 113659993 113659993 A C SNP ATF4P4 ENST00000393544 human ensembl 74_37 +1 known rna NULL NULL 0.987 - - - no_errors ATF4P4 HGNC ENSG00000256167 29 0 0 28 3 9.67742 DSCAML1 0 genome.wustl.edu 37 11 117352699 117352699 + Silent SNP G G A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 11 117352699 117352699 G A SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known silent c.2718 p.D906 0.483 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 94 0 0 61 8 11.5942 CD3E 0 genome.wustl.edu 37 11 118178016 118178016 + Silent SNP G G A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 11 118178016 118178016 G A SNP CD3E ENST00000361763 human ensembl 74_37 +1 known silent c.63 p.G21 0.003 NULL pfam_Phos_immunorcpt_sig_ITAM,smart_Ig_sub2,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM - no_errors CD3E HGNC ENSG00000198851 47 0 0 41 3 6.81818 TH 0 genome.wustl.edu 37 11 2189141 2189141 + Missense_Mutation SNP C C T TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 11 2189141 2189141 C T SNP TH ENST00000381178 human ensembl 74_37 -1 known missense c.692 p.R231H 1.000 pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Tyr_3_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_Tyrosine_hydroxylase_CS,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Tyr_3_mOase - no_errors TH HGNC ENSG00000180176 27 0 0 25 3 10.7143 CHRM4 0 genome.wustl.edu 37 11 46407613 46407613 + Silent SNP C C T TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 11 46407613 46407613 C T SNP CHRM4 ENST00000433765 human ensembl 74_37 -1 known silent c.495 p.A165 0.123 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_Musac_Ach_rcpt,prints_GPCR_Rhodpsn,prints_Musac_Ach_M4_rcpt - no_errors CHRM4 HGNC ENSG00000180720 21 0 0 22 6 21.4286 MADD 0 genome.wustl.edu 37 11 47296606 47296606 + Missense_Mutation SNP C C G TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 11 47296606 47296606 C G SNP MADD ENST00000311027 human ensembl 74_37 +1 known missense c.555 p.F185L 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors MADD HGNC ENSG00000110514 82 0 0 59 13 18.0556 CELF1 0 genome.wustl.edu 37 11 47494716 47494716 + Missense_Mutation SNP C C A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 11 47494716 47494716 C A SNP CELF1 ENST00000532048 human ensembl 74_37 -1 known missense c.1335 p.Q445H 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF1 HGNC ENSG00000149187 67 0 0 52 4 7.14286 OR5T1 0 genome.wustl.edu 37 11 56043183 56043183 + Missense_Mutation SNP G G A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 11 56043183 56043183 G A SNP OR5T1 ENST00000313033 human ensembl 74_37 +1 known missense c.69 p.M23I 0.004 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T1 HGNC ENSG00000181698 132 0 0 135 9 6.25 CNGA4 0 genome.wustl.edu 37 11 6265493 6265493 + Missense_Mutation SNP C C T TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 11 6265493 6265493 C T SNP CNGA4 ENST00000379936 human ensembl 74_37 +1 known missense c.1582 p.R528C 1.000 NULL pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA4 HGNC ENSG00000132259 89 0 0 45 22 32.8358 SNX32 0 genome.wustl.edu 37 11 65620233 65620233 + Missense_Mutation SNP G G C TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 11 65620233 65620233 G C SNP SNX32 ENST00000308342 human ensembl 74_37 +1 known missense c.1045 p.E349Q 0.999 pfam_Vps5_C,pirsf_Snx5_Snx6 pfam_Vps5_C,pfam_Phox,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox - no_errors SNX32 HGNC ENSG00000172803 34 0 0 32 4 11.1111 RAB1B 0 genome.wustl.edu 37 11 66039636 66039636 + Silent SNP G G A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 11 66039636 66039636 G A SNP RAB1B ENST00000311481 human ensembl 74_37 +1 known silent c.96 p.T32 0.143 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,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,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,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 RAB1B HGNC ENSG00000174903 245 1 0.406504 222 30 11.9048 RBM14 0 genome.wustl.edu 37 11 66384208 66384208 + Missense_Mutation SNP G G A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 11 66384208 66384208 G A SNP RBM14 ENST00000310137 human ensembl 74_37 +1 known missense c.17 p.G6D 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM14 HGNC ENSG00000239306 54 0 0 38 9 19.1489 PDE2A 0 genome.wustl.edu 37 11 72299876 72299876 + Missense_Mutation SNP T T A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 11 72299876 72299876 T A SNP PDE2A ENST00000334456 human ensembl 74_37 -1 known missense c.1022 p.D341V 0.998 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE2A HGNC ENSG00000186642 145 0 0 94 13 12.1495 P2RY2 0 genome.wustl.edu 37 11 72945522 72945522 + Nonsense_Mutation SNP C C A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 11 72945522 72945522 C A SNP P2RY2 ENST00000311131 human ensembl 74_37 +1 known nonsense c.318 p.C106* 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y2_rcpt,prints_GPCR_Rhodpsn,prints_P2Y4_rcpt - no_errors P2RY2 HGNC ENSG00000175591 117 0 0 88 40 31.25 ARHGEF17 0 genome.wustl.edu 37 11 73021583 73021583 + Nonsense_Mutation SNP G G T TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 11 73021583 73021583 G T SNP ARHGEF17 ENST00000263674 human ensembl 74_37 +1 known nonsense c.1900 p.E634* 1.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF17 HGNC ENSG00000110237 68 0 0 51 8 13.5593 MYO7A 0 genome.wustl.edu 37 11 76853839 76853839 + Missense_Mutation SNP C C A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 11 76853839 76853839 C A SNP MYO7A ENST00000409709 human ensembl 74_37 +1 known missense c.103 p.Q35K 1.000 superfamily_P-loop_NTPase 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 14 0 0 20 3 13.0435 OVCH2 0 genome.wustl.edu 37 11 7722879 7722879 + Missense_Mutation SNP C C T TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 11 7722879 7722879 C T SNP OVCH2 ENST00000454689 human ensembl 74_37 -1 known missense c.703 p.A235T 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,pfam_CUB_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,smart_Peptidase_S1,smart_CUB_dom,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors OVCH2 HGNC ENSG00000183378 30 0 0 32 6 15.7895 BTBD11 0 genome.wustl.edu 37 12 108029147 108029147 + Missense_Mutation SNP G G A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 12 108029147 108029147 G A SNP BTBD11 ENST00000280758 human ensembl 74_37 +1 known missense c.2717 p.R906Q 1.000 superfamily_BTB/POZ_fold pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC ENSG00000151136 101 0 0 49 11 18.3333 MLEC 0 genome.wustl.edu 37 12 121125252 121125252 + Silent SNP G G A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 12 121125252 121125252 G A SNP MLEC ENST00000228506 human ensembl 74_37 +1 known silent c.153 p.A51 0.773 pfam_Malectin pfam_Malectin - no_errors MLEC HGNC ENSG00000110917 67 0 0 36 5 12.1951 BICD1 0 genome.wustl.edu 37 12 32491848 32491848 + Missense_Mutation SNP C C G TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 12 32491848 32491848 C G SNP BICD1 ENST00000281474 human ensembl 74_37 +1 known missense c.2699 p.S900C 1.000 NULL pfam_Bicaudal-D_microtubule-assoc,superfamily_SPOC_like_C_dom - no_errors BICD1 HGNC ENSG00000151746 117 0 0 89 11 11 CPNE8 0 genome.wustl.edu 37 12 39047739 39047739 + Nonsense_Mutation SNP G G T TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 12 39047739 39047739 G T SNP CPNE8 ENST00000331366 human ensembl 74_37 -1 known nonsense c.1640 p.S547* 0.001 NULL pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE8 HGNC ENSG00000139117 61 0 0 40 8 16.6667 COL2A1 0 genome.wustl.edu 37 12 48368564 48368564 + Missense_Mutation SNP C C A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 12 48368564 48368564 C A SNP COL2A1 ENST00000380518 human ensembl 74_37 -1 known missense c.3968 p.C1323F 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL2A1 HGNC ENSG00000139219 156 0 0 91 16 14.9533 DNAJC22 0 genome.wustl.edu 37 12 49743369 49743369 + Silent SNP G G A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 12 49743369 49743369 G A SNP DNAJC22 ENST00000395069 human ensembl 74_37 +1 known silent c.714 p.L238 1.000 NULL pfam_DnaJ_domain,pfam_TM2,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC22 HGNC ENSG00000178401 198 1 0.502513 147 31 17.4157 KIF5A 0 genome.wustl.edu 37 12 57963828 57963828 + Silent SNP G G A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 12 57963828 57963828 G A SNP KIF5A ENST00000455537 human ensembl 74_37 +1 known silent c.1176 p.E392 0.643 superfamily_P-loop_NTPase pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5A HGNC ENSG00000155980 38 0 0 33 3 8.33333 TMEM5 0 genome.wustl.edu 37 12 64202853 64202853 + Nonsense_Mutation SNP T T G TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 12 64202853 64202853 T G SNP TMEM5 ENST00000261234 human ensembl 74_37 +1 known nonsense c.1313 p.L438* 1.000 NULL pfam_Exostosin - no_errors TMEM5 HGNC ENSG00000118600 34 0 0 19 3 13.6364 C3AR1 0 genome.wustl.edu 37 12 8211383 8211383 + Missense_Mutation SNP G G T TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 12 8211383 8211383 G T SNP C3AR1 ENST00000307637 human ensembl 74_37 -1 known missense c.1399 p.H467N 0.760 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Anaphtx_C3AR1,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Formyl_pep_rcpt,prints_Anaphtx_C5AR1/C5AR2 - no_errors C3AR1 HGNC ENSG00000171860 155 0 0 129 20 13.4228 TPTE2 0 genome.wustl.edu 37 13 19999107 19999107 + Silent SNP C C G TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 13 19999107 19999107 C G SNP TPTE2 ENST00000382977 human ensembl 74_37 -1 known silent c.1446 p.T482 0.655 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE2 HGNC ENSG00000132958 25 0 0 19 3 13.6364 USP12 0 genome.wustl.edu 37 13 27645260 27645260 + Missense_Mutation SNP G G A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 13 27645260 27645260 G A SNP USP12 ENST00000282344 human ensembl 74_37 -1 known missense c.959 p.A320V 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP12 HGNC ENSG00000152484 51 0 0 42 8 16 LCP1 0 genome.wustl.edu 37 13 46725141 46725141 + Missense_Mutation SNP A A T TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 13 46725141 46725141 A T SNP LCP1 ENST00000323076 human ensembl 74_37 -1 known missense c.812 p.L271Q 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_EF_hand_dom,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_dom,smart_CH-domain,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors LCP1 HGNC ENSG00000136167 94 0 0 76 22 22.449 SLC25A47 0 genome.wustl.edu 37 14 100793683 100793683 + Silent SNP G G A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 14 100793683 100793683 G A SNP SLC25A47 ENST00000361529 human ensembl 74_37 +1 known silent c.303 p.S101 0.369 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A47 HGNC ENSG00000140107 102 0 0 56 8 12.5 PTGDR 0 genome.wustl.edu 37 14 52735280 52735280 + Missense_Mutation SNP G G A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 14 52735280 52735280 G A SNP PTGDR ENST00000306051 human ensembl 74_37 +1 known missense c.748 p.G250R 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Pglndn_D_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Pglndn_D_rcpt,prints_Prostanoid_rcpt - no_errors PTGDR HGNC ENSG00000168229 136 0 0 98 23 19.0083 HERC1 0 genome.wustl.edu 37 15 63926111 63926111 + Missense_Mutation SNP G G C TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 15 63926111 63926111 G C SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known missense c.12629 p.A4210G 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 27 0 0 24 2 7.69231 SEMA7A 0 genome.wustl.edu 37 15 74708915 74708915 + Splice_Site SNP C C T TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 15 74708915 74708915 C T SNP SEMA7A ENST00000261918 human ensembl 74_37 -1 known splice_site c.801+1 e7+1 1.000 - - - no_errors SEMA7A HGNC ENSG00000138623 41 0 0 43 4 8.51064 ADAMTS7 0 genome.wustl.edu 37 15 79080681 79080681 + Missense_Mutation SNP C C G TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 15 79080681 79080681 C G SNP ADAMTS7 ENST00000388820 human ensembl 74_37 -1 known missense c.1214 p.C405S 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS7 HGNC ENSG00000136378 161 0 0 114 20 14.9254 ADAMTS7 0 genome.wustl.edu 37 15 79083543 79083543 + Missense_Mutation SNP G G A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 15 79083543 79083543 G A SNP ADAMTS7 ENST00000388820 human ensembl 74_37 -1 known missense c.842 p.P281L 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS7 HGNC ENSG00000136378 86 0 0 32 7 17.9487 IDH2 0 genome.wustl.edu 37 15 90628287 90628287 + Nonsense_Mutation SNP C C T TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 15 90628287 90628287 C T SNP IDH2 ENST00000330062 human ensembl 74_37 -1 known nonsense c.1124 p.W375* 1.000 pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP - no_errors IDH2 HGNC ENSG00000182054 164 0 0 101 16 13.6752 SNX29 0 genome.wustl.edu 37 16 12142284 12142284 + Missense_Mutation SNP G G C TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 16 12142284 12142284 G C SNP SNX29 ENST00000566228 human ensembl 74_37 +1 putative missense c.555 p.Q185H 1.000 NULL pfam_Run,pfam_Phox,superfamily_Phox,smart_Run,smart_Phox,pfscan_Phox,pfscan_Run - no_errors SNX29 HGNC ENSG00000048471 191 0 0 147 23 13.5294 TSR3 0 genome.wustl.edu 37 16 1400843 1400843 + Missense_Mutation SNP C C G TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 16 1400843 1400843 C G SNP TSR3 ENST00000007390 human ensembl 74_37 -1 known missense c.491 p.C164S 1.000 pfam_DUF367 pfam_DUF367,pfam_RNaseL-inhib_metal-bd_dom - no_errors TSR3 HGNC ENSG00000007520 80 0 0 53 10 15.873 KIF22 0 genome.wustl.edu 37 16 29810320 29810320 + Missense_Mutation SNP T T A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 16 29810320 29810320 T A SNP KIF22 ENST00000160827 human ensembl 74_37 +1 known missense c.574 p.S192T 0.894 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_RuvA_2-like,smart_Kinesin_motor_dom,smart_Hlx-hairpin-Hlx_DNA-bd_motif,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF22 HGNC ENSG00000079616 188 0 0 127 19 13.0137 IRX3 0 genome.wustl.edu 37 16 54318990 54318990 + Missense_Mutation SNP A A G TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 16 54318990 54318990 A G SNP IRX3 ENST00000329734 human ensembl 74_37 -1 known missense c.803 p.L268P 0.150 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX3 HGNC ENSG00000177508 53 0 0 52 13 20 KATNB1 0 genome.wustl.edu 37 16 57787375 57787375 + Missense_Mutation SNP C C T TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 16 57787375 57787375 C T SNP KATNB1 ENST00000379661 human ensembl 74_37 +1 known missense c.1121 p.A374V 0.999 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors KATNB1 HGNC ENSG00000140854 78 0 0 78 5 6.0241 ENSG00000224631 0 genome.wustl.edu 37 16 61089709 61089709 + RNA SNP G G T TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 16 61089709 61089709 G T SNP ENSG00000224631 ENST00000591758 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-51O6.1 Clone_based_vega_gene ENSG00000224631 89 0 0 51 6 10.5263 CDH8 0 genome.wustl.edu 37 16 61687703 61687703 + Missense_Mutation SNP T T A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 16 61687703 61687703 T A SNP CDH8 ENST00000577390 human ensembl 74_37 -1 known missense c.2209 p.T737S 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 81 0 0 53 8 13.1148 CDH11 0 genome.wustl.edu 37 16 65022100 65022100 + Missense_Mutation SNP G G A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 16 65022100 65022100 G A SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known missense c.959 p.T320M 0.997 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 226 0 0 165 41 19.9029 ELAC2 0 genome.wustl.edu 37 17 12921103 12921103 + Silent SNP G G C TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 17 12921103 12921103 G C SNP ELAC2 ENST00000338034 human ensembl 74_37 -1 known silent c.162 p.G54 0.999 NULL pfam_Beta-lactamas-like - no_errors ELAC2 HGNC ENSG00000006744 18 0 0 10 3 23.0769 PHF12 0 genome.wustl.edu 37 17 27237335 27237335 + Silent SNP C C T TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 17 27237335 27237335 C T SNP PHF12 ENST00000332830 human ensembl 74_37 -1 known silent c.2268 p.Q756 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger - no_errors PHF12 HGNC ENSG00000109118 86 0 0 62 22 26.1905 HNF1B 0 genome.wustl.edu 37 17 36093716 36093716 + Missense_Mutation SNP C C G TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 17 36093716 36093716 C G SNP HNF1B ENST00000225893 human ensembl 74_37 -1 known missense c.643 p.G215R 1.000 NULL pfam_HNF1b_C,pfam_HNF-1_N,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HNF1B HGNC ENSG00000108753 82 0 0 53 9 14.5161 ATP2A3 0 genome.wustl.edu 37 17 3854671 3854671 + Nonsense_Mutation SNP C C A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 17 3854671 3854671 C A SNP ATP2A3 ENST00000359983 human ensembl 74_37 -1 known nonsense c.337 p.E113* 0.998 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2A3 HGNC ENSG00000074370 67 0 0 46 3 6.12245 KRT25 0 genome.wustl.edu 37 17 38910169 38910169 + Missense_Mutation SNP C C A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 17 38910169 38910169 C A SNP KRT25 ENST00000312150 human ensembl 74_37 -1 known missense c.612 p.E204D 1.000 pfam_IF,prints_Keratin_I pfam_IF,prints_Keratin_I - no_errors KRT25 HGNC ENSG00000204897 139 0 0 92 17 15.5963 KCNH4 0 genome.wustl.edu 37 17 40330819 40330819 + Missense_Mutation SNP C C T TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 17 40330819 40330819 C T SNP KCNH4 ENST00000264661 human ensembl 74_37 -1 known missense c.302 p.R101H 1.000 pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,superfamily_PAS,smart_PAC,prints_K_chnl_volt-dep_ELK,pfscan_PAS-assoc_C,tigrfam_PAS pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH4 HGNC ENSG00000089558 61 0 0 53 3 5.35714 MYBBP1A 0 genome.wustl.edu 37 17 4455258 4455258 + Missense_Mutation SNP G G C TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 17 4455258 4455258 G C SNP MYBBP1A ENST00000381556 human ensembl 74_37 -1 known missense c.940 p.P314A 1.000 pfam_DNA_pol_V,superfamily_ARM-type_fold pfam_DNA_pol_V,superfamily_ARM-type_fold - no_errors MYBBP1A HGNC ENSG00000132382 163 0 0 96 21 17.9487 SLC13A5 0 genome.wustl.edu 37 17 6610071 6610071 + Silent SNP G G T TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 17 6610071 6610071 G T SNP SLC13A5 ENST00000433363 human ensembl 74_37 -1 known silent c.258 p.T86 1.000 pfam_Na/sul_symport,pfam_Cit_transptr-like_dom pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A5 HGNC ENSG00000141485 37 0 0 20 7 25.9259 TP53 0 genome.wustl.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 17 7578406 7578406 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.524 p.R175H 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 99 0 0 43 19 30.6452 ZNF440 0 genome.wustl.edu 37 19 11942980 11942980 + Missense_Mutation SNP A A G TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 19 11942980 11942980 A G SNP ZNF440 ENST00000304060 human ensembl 74_37 +1 known missense c.989 p.H330R 0.209 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 ZNF440 HGNC ENSG00000171295 77 0 0 75 10 11.7647 ZNF490 0 genome.wustl.edu 37 19 12692195 12692195 + Missense_Mutation SNP C C T TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 19 12692195 12692195 C T SNP ZNF490 ENST00000311437 human ensembl 74_37 -1 known missense c.694 p.A232T 0.001 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 ZNF490 HGNC ENSG00000188033 63 0 0 63 16 20.2532 PGLS 0 genome.wustl.edu 37 19 17631842 17631842 + Silent SNP G G A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 19 17631842 17631842 G A SNP PGLS ENST00000252603 human ensembl 74_37 +1 known silent c.729 p.A243 0.279 tigrfam_6-phosphogluconolactonase_DevB tigrfam_6-phosphogluconolactonase_DevB - no_errors PGLS HGNC ENSG00000130313 16 0 0 14 3 17.6471 TSSK6 0 genome.wustl.edu 37 19 19626080 19626080 + Missense_Mutation SNP C C T TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 19 19626080 19626080 C T SNP TSSK6 ENST00000360913 human ensembl 74_37 -1 known missense c.157 p.V53I 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TSSK6 HGNC ENSG00000178093 70 0 0 54 9 14.2857 LSR 0 genome.wustl.edu 37 19 35757794 35757794 + Silent SNP C C T TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 19 35757794 35757794 C T SNP LSR ENST00000361790 human ensembl 74_37 +1 known silent c.1212 p.V404 0.985 NULL pfam_LISCH7,smart_Ig_sub,pfscan_Ig-like_dom - no_errors LSR HGNC ENSG00000105699 28 0 0 29 2 6.45161 PSENEN 0 genome.wustl.edu 37 19 36237375 36237375 + Silent SNP A A T TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 19 36237375 36237375 A T SNP PSENEN ENST00000222266 human ensembl 74_37 +1 known silent c.117 p.R39 0.994 pfam_Gamma_Secretase_Asp_P_PEN2 pfam_Gamma_Secretase_Asp_P_PEN2 - no_errors PSENEN HGNC ENSG00000205155 179 0 0 94 20 17.5439 WDR62 0 genome.wustl.edu 37 19 36582142 36582142 + Missense_Mutation SNP G G A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 19 36582142 36582142 G A SNP WDR62 ENST00000401500 human ensembl 74_37 +1 known missense c.2075 p.C692Y 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR62 HGNC ENSG00000075702 64 0 0 46 12 20.6897 DHX34 0 genome.wustl.edu 37 19 47856911 47856911 + Silent SNP G G A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 19 47856911 47856911 G A SNP DHX34 ENST00000328771 human ensembl 74_37 +1 known silent c.624 p.A208 0.584 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX34 HGNC ENSG00000134815 19 0 0 13 6 31.5789 SCAF1 0 genome.wustl.edu 37 19 50149403 50149403 + Missense_Mutation SNP C C T TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 19 50149403 50149403 C T SNP SCAF1 ENST00000360565 human ensembl 74_37 +1 known missense c.205 p.R69W 1.000 NULL NULL - no_errors SCAF1 HGNC ENSG00000126461 87 0 0 25 11 30.5556 KLK8 0 genome.wustl.edu 37 19 51499377 51499377 + Missense_Mutation SNP C C T TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 19 51499377 51499377 C T SNP KLK8 ENST00000391806 human ensembl 74_37 -1 known missense c.856 p.V286I 0.962 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK8 HGNC ENSG00000129455 165 0 0 123 28 18.543 ZNF83 0 genome.wustl.edu 37 19 53116897 53116897 + Silent SNP G G A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 19 53116897 53116897 G A SNP ZNF83 ENST00000301096 human ensembl 74_37 -1 known silent c.921 p.H307 0.088 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF83 HGNC ENSG00000167766 130 0 0 112 6 5.08475 ZNF600 0 genome.wustl.edu 37 19 53270700 53270700 + Silent SNP G G A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 19 53270700 53270700 G A SNP ZNF600 ENST00000338230 human ensembl 74_37 -1 known silent c.309 p.I103 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF600 HGNC ENSG00000189190 184 0 0 142 27 15.9763 ZNF784 0 genome.wustl.edu 37 19 56133358 56133358 + Missense_Mutation SNP C C T TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 19 56133358 56133358 C T SNP ZNF784 ENST00000325351 human ensembl 74_37 -1 known missense c.731 p.R244H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF784 HGNC ENSG00000179922 23 0 0 17 2 10.5263 HOXD4 0 genome.wustl.edu 37 2 177016412 177016412 + Missense_Mutation SNP C C A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 2 177016412 177016412 C A SNP HOXD4 ENST00000306324 human ensembl 74_37 +1 known missense c.51 p.F17L 0.994 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXD4 HGNC ENSG00000170166 75 0 0 72 10 12.1951 TTN 0 genome.wustl.edu 37 2 179444392 179444392 + Missense_Mutation SNP T T C TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 2 179444392 179444392 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.59828 p.K19943R 0.998 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 99 0 0 62 16 20.5128 DNAH7 0 genome.wustl.edu 37 2 196749505 196749505 + Missense_Mutation SNP G G A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 2 196749505 196749505 G A SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.5567 p.S1856F 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 49 0 0 32 8 20 RAPH1 0 genome.wustl.edu 37 2 204334977 204334977 + Silent SNP A A G TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 2 204334977 204334977 A G SNP RAPH1 ENST00000374493 human ensembl 74_37 -1 known silent c.873 p.S291 1.000 superfamily_Kinase-like_dom pfam_Ras-assoc,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,prints_Paxillin - no_errors RAPH1 HGNC ENSG00000173166 127 0 0 96 17 15.0442 EPHA4 0 genome.wustl.edu 37 2 222428528 222428528 + Missense_Mutation SNP G G A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 2 222428528 222428528 G A SNP EPHA4 ENST00000281821 human ensembl 74_37 -1 known missense c.746 p.A249V 1.000 pirsf_Tyr_kinase_ephrin_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,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 EPHA4 HGNC ENSG00000116106 135 0 0 101 27 21.0938 DRC1 0 genome.wustl.edu 37 2 26676341 26676341 + Missense_Mutation SNP C C A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 2 26676341 26676341 C A SNP DRC1 ENST00000288710 human ensembl 74_37 +1 known missense c.1843 p.P615T 0.000 NULL NULL - no_errors DRC1 HGNC ENSG00000157856 35 0 0 37 10 21.2766 EIF2AK2 0 genome.wustl.edu 37 2 37364140 37364140 + Silent SNP T T C TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 2 37364140 37364140 T C SNP EIF2AK2 ENST00000233057 human ensembl 74_37 -1 known silent c.708 p.Q236 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_dsRNA-bd_dom,superfamily_Kinase-like_dom,smart_dsRNA-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_dsRNA-bd_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EIF2AK2 HGNC ENSG00000055332 24 0 0 18 7 28 NRXN1 0 genome.wustl.edu 37 2 50780158 50780158 + Silent SNP T T A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 2 50780158 50780158 T A SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known silent c.1302 p.V434 0.497 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 103 0 0 77 35 31.25 DCTN1 0 genome.wustl.edu 37 2 74596550 74596550 + Missense_Mutation SNP C C A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 2 74596550 74596550 C A SNP DCTN1 ENST00000361874 human ensembl 74_37 -1 known missense c.1461 p.E487D 1.000 superfamily_P-loop_NTPase 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 110 0 0 98 25 20.3252 NINL 0 genome.wustl.edu 37 20 25434228 25434228 + Missense_Mutation SNP C C G TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 20 25434228 25434228 C G SNP NINL ENST00000278886 human ensembl 74_37 -1 known missense c.4008 p.E1336D 0.992 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NINL HGNC ENSG00000101004 79 0 0 77 9 10.4651 PTPRT 0 genome.wustl.edu 37 20 41306531 41306531 + Silent SNP G G A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 20 41306531 41306531 G A SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known silent c.1128 p.P376 0.921 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 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,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 106 0 0 96 10 9.43396 TOMM34 0 genome.wustl.edu 37 20 43580479 43580479 + Missense_Mutation SNP T T C TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 20 43580479 43580479 T C SNP TOMM34 ENST00000372813 human ensembl 74_37 -1 known missense c.545 p.N182S 0.009 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TOMM34 HGNC ENSG00000025772 87 0 0 74 13 14.9425 GPCPD1 0 genome.wustl.edu 37 20 5579448 5579448 + Nonsense_Mutation SNP A A T TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 20 5579448 5579448 A T SNP GPCPD1 ENST00000379019 human ensembl 74_37 -1 known nonsense c.69 p.C23* 1.000 pfam_CBM_fam20,superfamily_Carb-bd-like_fold,pfscan_CBM_fam20 pfam_GlyceroP-diester-Pdiesterase,pfam_CBM_fam20,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Carb-bd-like_fold,pfscan_CBM_fam20 - no_errors GPCPD1 HGNC ENSG00000125772 44 0 0 23 3 11.5385 SLC17A9 0 genome.wustl.edu 37 20 61598562 61598562 + RNA SNP A A G TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 20 61598562 61598562 A G SNP SLC17A9 ENST00000488738 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC17A9 HGNC ENSG00000101194 29 0 0 35 4 10.2564 YTHDF1 0 genome.wustl.edu 37 20 61834049 61834049 + Nonsense_Mutation SNP C C A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 20 61834049 61834049 C A SNP YTHDF1 ENST00000370339 human ensembl 74_37 -1 known nonsense c.1243 p.E415* 1.000 pfscan_YTH_domain pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDF1 HGNC ENSG00000149658 101 0 0 108 19 14.9606 KCNQ2 0 genome.wustl.edu 37 20 62044926 62044926 + Missense_Mutation SNP C C T TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 20 62044926 62044926 C T SNP KCNQ2 ENST00000354587 human ensembl 74_37 -1 known missense c.1556 p.R519Q 1.000 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC ENSG00000075043 173 0 0 145 18 11.0429 SRMS 0 genome.wustl.edu 37 20 62172223 62172223 + Missense_Mutation SNP G G C TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 20 62172223 62172223 G C SNP SRMS ENST00000217188 human ensembl 74_37 -1 known missense c.1415 p.S472C 0.994 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors SRMS HGNC ENSG00000125508 174 0 0 120 21 14.8936 TUBA8 0 genome.wustl.edu 37 22 18609664 18609664 + Missense_Mutation SNP C C T TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 22 18609664 18609664 C T SNP TUBA8 ENST00000330423 human ensembl 74_37 +1 known missense c.919 p.P307S 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA8 HGNC ENSG00000183785 134 0 0 105 25 19.2308 MYO18B 0 genome.wustl.edu 37 22 26422472 26422472 + Missense_Mutation SNP C C T TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 22 26422472 26422472 C T SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known missense c.6532 p.R2178W 0.000 NULL pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 197 0 0 138 24 14.8148 TCN2 0 genome.wustl.edu 37 22 31009006 31009006 + Missense_Mutation SNP T T G TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 22 31009006 31009006 T G SNP TCN2 ENST00000215838 human ensembl 74_37 +1 known missense c.404 p.L135R 1.000 pfam_Cbl-bd_transpt_euk,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_Cbl-bd_transpt_euk,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors TCN2 HGNC ENSG00000185339 61 0 0 40 4 9.09091 FOXRED2 0 genome.wustl.edu 37 22 36902217 36902217 + Missense_Mutation SNP A A G TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 22 36902217 36902217 A G SNP FOXRED2 ENST00000216187 human ensembl 74_37 -1 known missense c.253 p.Y85H 0.963 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors FOXRED2 HGNC ENSG00000100350 60 0 0 46 17 26.9841 SH3BP1 0 genome.wustl.edu 37 22 38040901 38040901 + Missense_Mutation SNP C C G TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 22 38040901 38040901 C G SNP SH3BP1 ENST00000357436 human ensembl 74_37 +1 known missense c.712 p.H238D 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_RhoGAP_dom,pfam_BAR_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors SH3BP1 HGNC ENSG00000100092 50 0 0 42 7 14.2857 XPNPEP3 0 genome.wustl.edu 37 22 41253153 41253153 + RNA SNP T T C TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 22 41253153 41253153 T C SNP XPNPEP3 ENST00000482652 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors XPNPEP3 HGNC ENSG00000196236 32 0 0 22 8 26.6667 RRP7A 0 genome.wustl.edu 37 22 42910199 42910199 + Missense_Mutation SNP G G A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 22 42910199 42910199 G A SNP RRP7A ENST00000323013 human ensembl 74_37 -1 known missense c.670 p.R224W 1.000 NULL NULL - no_errors RRP7A HGNC ENSG00000189306 32 0 0 20 2 9.09091 ATP2C1 0 genome.wustl.edu 37 3 130656284 130656284 + Missense_Mutation SNP G G A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 3 130656284 130656284 G A SNP ATP2C1 ENST00000393221 human ensembl 74_37 +1 known missense c.439 p.V147I 0.998 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2C1 HGNC ENSG00000017260 57 0 0 35 7 16.6667 PRR23C 0 genome.wustl.edu 37 3 138762979 138762979 + Missense_Mutation SNP C C T TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 3 138762979 138762979 C T SNP PRR23C ENST00000413199 human ensembl 74_37 -1 known missense c.484 p.E162K 0.001 pfam_UPF0572 pfam_UPF0572 - no_errors PRR23C HGNC ENSG00000233701 24 0 0 21 3 12.5 ATR 0 genome.wustl.edu 37 3 142297490 142297490 + Silent SNP G G A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 3 142297490 142297490 G A SNP ATR ENST00000350721 human ensembl 74_37 -1 known silent c.57 p.G19 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 23 0 0 22 6 21.4286 ACTL6A 0 genome.wustl.edu 37 3 179298958 179298958 + Missense_Mutation SNP A A C TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 3 179298958 179298958 A C SNP ACTL6A ENST00000429709 human ensembl 74_37 +1 known missense c.976 p.S326R 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL6A HGNC ENSG00000136518 195 0 0 131 26 16.5605 ENSG00000263826 0 genome.wustl.edu 37 3 186501364 186501364 + RNA SNP G G T TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 3 186501364 186501364 G T SNP ENSG00000263826 ENST00000577781 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-573D15.9 Clone_based_vega_gene ENSG00000263826 97 0 0 62 17 21.519 FYCO1 0 genome.wustl.edu 37 3 46009092 46009092 + Missense_Mutation SNP G G C TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 3 46009092 46009092 G C SNP FYCO1 ENST00000535325 human ensembl 74_37 -1 known missense c.1734 p.N578K 0.001 NULL pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors FYCO1 HGNC ENSG00000163820 119 0 0 83 24 22.4299 MON1A 0 genome.wustl.edu 37 3 49949401 49949401 + Silent SNP G G A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 3 49949401 49949401 G A SNP MON1A ENST00000296473 human ensembl 74_37 -1 known silent c.462 p.Y154 0.654 NULL pfam_Vacuolar_fusion_protein_MON1,superfamily_Longin-like_dom,prints_Vacuolar_fusion_protein_MON1 - no_errors MON1A HGNC ENSG00000164077 81 0 0 36 16 30.7692 DOCK3 0 genome.wustl.edu 37 3 51308381 51308381 + Missense_Mutation SNP G G A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 3 51308381 51308381 G A SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known missense c.2491 p.V831M 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 149 0 0 69 11 13.75 RPUSD3 0 genome.wustl.edu 37 3 9882475 9882475 + Missense_Mutation SNP A A T TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 3 9882475 9882475 A T SNP RPUSD3 ENST00000383820 human ensembl 74_37 -1 known missense c.422 p.L141H 1.000 pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom - no_errors RPUSD3 HGNC ENSG00000156990 47 0 0 18 9 33.3333 ADH6 0 genome.wustl.edu 37 4 100134789 100134789 + Missense_Mutation SNP C C G TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 4 100134789 100134789 C G SNP ADH6 ENST00000394899 human ensembl 74_37 -1 known missense c.236 p.G79A 1.000 pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER - no_errors ADH6 HGNC ENSG00000172955 111 0 0 46 12 20.6897 KIAA1109 0 genome.wustl.edu 37 4 123147962 123147962 + Missense_Mutation SNP G G T TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 4 123147962 123147962 G T SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.2894 p.G965V 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 117 0 0 56 12 17.6471 HHIP-AS1 0 genome.wustl.edu 37 4 145580768 145580768 + RNA SNP G G A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 4 145580768 145580768 G A SNP HHIP-AS1 ENST00000512359 human ensembl 74_37 -1 known rna NULL NULL 0.791 - - - no_errors HHIP-AS1 HGNC ENSG00000248890 145 0 0 85 18 17.4757 POU4F2 0 genome.wustl.edu 37 4 147561058 147561058 + Missense_Mutation SNP C C G TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 4 147561058 147561058 C G SNP POU4F2 ENST00000281321 human ensembl 74_37 +1 known missense c.328 p.R110G 1.000 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F2 HGNC ENSG00000151615 59 0 0 60 8 11.7647 TIGD4 0 genome.wustl.edu 37 4 153691798 153691798 + Missense_Mutation SNP T T C TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 4 153691798 153691798 T C SNP TIGD4 ENST00000304337 human ensembl 74_37 -1 known missense c.359 p.K120R 1.000 pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,pfam_Centromere_CenpB_dimerisation,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD4 HGNC ENSG00000169989 122 0 0 87 11 11.2245 LRP2BP 0 genome.wustl.edu 37 4 186299314 186299314 + Silent SNP G G C TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 4 186299314 186299314 G C SNP LRP2BP ENST00000362004 human ensembl 74_37 -1 known silent c.27 p.P9 0.775 NULL pfam_Sel1-like,pfam_TPR_2,smart_Sel1-like,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors LRP2BP HGNC ENSG00000109771 120 0 0 88 14 13.7255 FAM193A 0 genome.wustl.edu 37 4 2641518 2641518 + Silent SNP G G C TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 4 2641518 2641518 G C SNP FAM193A ENST00000324666 human ensembl 74_37 +1 known silent c.222 p.L74 0.992 NULL NULL - no_errors FAM193A HGNC ENSG00000125386 37 0 0 39 14 26.4151 PDS5A 0 genome.wustl.edu 37 4 39978195 39978195 + Missense_Mutation SNP C C A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 4 39978195 39978195 C A SNP PDS5A ENST00000303538 human ensembl 74_37 -1 known missense c.3 p.M1I 1.000 NULL superfamily_ARM-type_fold - no_errors PDS5A HGNC ENSG00000121892 56 0 0 34 15 30.6122 UGT2B11 0 genome.wustl.edu 37 4 70066333 70066333 + Missense_Mutation SNP C C A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 4 70066333 70066333 C A SNP UGT2B11 ENST00000446444 human ensembl 74_37 -1 known missense c.1415 p.G472V 1.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B11 HGNC ENSG00000213759 155 0 0 113 20 15.0376 AFM 0 genome.wustl.edu 37 4 74351731 74351731 + Silent SNP C C A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 4 74351731 74351731 C A SNP AFM ENST00000226355 human ensembl 74_37 +1 known silent c.423 p.T141 0.990 pirsf_Serum_albumin/AFP,pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N pirsf_Serum_albumin/AFP,pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,prints_ALB/AFP/VDB,prints_Alpha-fetoprotein - no_errors AFM HGNC ENSG00000079557 98 0 0 78 8 9.30233 ACOX3 0 genome.wustl.edu 37 4 8372710 8372710 + Missense_Mutation SNP A A G TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 4 8372710 8372710 A G SNP ACOX3 ENST00000413009 human ensembl 74_37 -1 known missense c.1840 p.C614R 0.830 pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_AcylCo_DH/oxidase_C,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase - no_errors ACOX3 HGNC ENSG00000087008 64 0 0 57 3 5 SLC6A18 0 genome.wustl.edu 37 5 1239618 1239618 + Silent SNP C C T TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 5 1239618 1239618 C T SNP SLC6A18 ENST00000324642 human ensembl 74_37 +1 known silent c.786 p.F262 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A18 HGNC ENSG00000164363 167 0 0 109 24 18.0451 DNAH5 0 genome.wustl.edu 37 5 13944508 13944508 + Missense_Mutation SNP C C T TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 5 13944508 13944508 C T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.40 p.V14I 0.998 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 50 0 0 42 7 14.2857 ATP10B 0 genome.wustl.edu 37 5 160033937 160033937 + Missense_Mutation SNP C C T TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 5 160033937 160033937 C T SNP ATP10B ENST00000327245 human ensembl 74_37 -1 known missense c.2995 p.D999N 0.997 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10B HGNC ENSG00000118322 128 0 0 95 30 24 ITGA1 0 genome.wustl.edu 37 5 52204856 52204856 + Silent SNP G G A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 5 52204856 52204856 G A SNP ITGA1 ENST00000282588 human ensembl 74_37 +1 known silent c.1584 p.V528 1.000 smart_Int_alpha_beta-p 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 ITGA1 HGNC ENSG00000213949 67 0 0 59 13 18.0556 SV2C 0 genome.wustl.edu 37 5 75505622 75505622 + Missense_Mutation SNP C C T TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 5 75505622 75505622 C T SNP SV2C ENST00000502798 human ensembl 74_37 +1 known missense c.823 p.R275W 1.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2C HGNC ENSG00000122012 105 0 0 71 13 15.4762 VCAN 0 genome.wustl.edu 37 5 82816417 82816417 + Silent SNP A A G TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 5 82816417 82816417 A G SNP VCAN ENST00000265077 human ensembl 74_37 +1 known silent c.2292 p.R764 0.007 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 55 0 0 51 9 15 DTNBP1 0 genome.wustl.edu 37 6 15524837 15524837 + Missense_Mutation SNP A A C TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 6 15524837 15524837 A C SNP DTNBP1 ENST00000355917 human ensembl 74_37 -1 known missense c.734 p.M245R 1.000 pfam_Dysbindin pfam_Dysbindin,superfamily_Trp_syn_b_sub_like_PLP_eny_SF - no_errors DTNBP1 HGNC ENSG00000047579 36 0 0 39 7 15.2174 NOX3 0 genome.wustl.edu 37 6 155761124 155761124 + Missense_Mutation SNP C C T TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 6 155761124 155761124 C T SNP NOX3 ENST00000159060 human ensembl 74_37 -1 known missense c.634 p.V212I 0.827 pfam_Fe3_Rdtase_TM_dom,prints_Cyt_b245_heavy_chain pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX3 HGNC ENSG00000074771 59 0 0 44 6 12 C6orf118 0 genome.wustl.edu 37 6 165715558 165715558 + Missense_Mutation SNP G G A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 6 165715558 165715558 G A SNP C6orf118 ENST00000230301 human ensembl 74_37 -1 known missense c.253 p.R85W 0.000 NULL superfamily_Ribonuclease/ribotoxin - no_errors C6orf118 HGNC ENSG00000112539 107 0 0 54 20 27.027 HIST1H2BC 0 genome.wustl.edu 37 6 26124041 26124041 + Missense_Mutation SNP T T G TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 6 26124041 26124041 T G SNP HIST1H2BC ENST00000314332 human ensembl 74_37 -1 known missense c.92 p.K31T 1.000 superfamily_Histone-fold,smart_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BC HGNC ENSG00000180596 245 0 0 141 30 17.5439 PSMB8 0 genome.wustl.edu 37 6 32809961 32809961 + Missense_Mutation SNP G G A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 6 32809961 32809961 G A SNP PSMB8 ENST00000374882 human ensembl 74_37 -1 known missense c.487 p.R163W 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB8 HGNC ENSG00000204264 100 0 0 74 5 6.32911 HLA-DOA 0 genome.wustl.edu 37 6 32976056 32976056 + RNA SNP A A G TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 6 32976056 32976056 A G SNP HLA-DOA ENST00000467465 human ensembl 74_37 -1 known rna NULL NULL 0.014 - - - no_errors HLA-DOA HGNC ENSG00000204252 59 0 0 32 2 5.88235 PACSIN1 0 genome.wustl.edu 37 6 34498360 34498360 + Missense_Mutation SNP G G A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 6 34498360 34498360 G A SNP PACSIN1 ENST00000244458 human ensembl 74_37 +1 known missense c.1033 p.G345S 0.998 NULL pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PACSIN1 HGNC ENSG00000124507 18 0 0 20 5 20 AARS2 0 genome.wustl.edu 37 6 44274230 44274230 + Splice_Site SNP C C G TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 6 44274230 44274230 C G SNP AARS2 ENST00000244571 human ensembl 74_37 -1 known splice_site c.1188+1 e8+1 1.000 - - - no_errors AARS2 HGNC ENSG00000124608 344 1 0.289855 249 47 15.8784 CD109 0 genome.wustl.edu 37 6 74407197 74407197 + Missense_Mutation SNP A A G TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 6 74407197 74407197 A G SNP CD109 ENST00000287097 human ensembl 74_37 +1 known missense c.149 p.E50G 1.000 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors CD109 HGNC ENSG00000156535 129 0 0 90 20 18.1818 MUC17 0 genome.wustl.edu 37 7 100675458 100675458 + Missense_Mutation SNP G G A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 7 100675458 100675458 G A SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.761 p.S254N 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 236 0 0 191 38 16.5939 FAM71F2 0 genome.wustl.edu 37 7 128317770 128317770 + Missense_Mutation SNP T T C TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 7 128317770 128317770 T C SNP FAM71F2 ENST00000480462 human ensembl 74_37 +1 known missense c.518 p.I173T 1.000 pfam_DUF3699 pfam_DUF3699 - no_errors FAM71F2 HGNC ENSG00000205085 60 0 0 53 11 17.1875 PLXNA4 0 genome.wustl.edu 37 7 132193205 132193205 + Missense_Mutation SNP G G A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 7 132193205 132193205 G A SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.248 p.T83M 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 82 0 0 79 12 13.1868 PTPRN2 0 genome.wustl.edu 37 7 157926444 157926444 + Missense_Mutation SNP G G A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 7 157926444 157926444 G A SNP PTPRN2 ENST00000404321 human ensembl 74_37 -1 known missense c.1550 p.A517V 0.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC ENSG00000155093 120 0 0 82 20 19.6078 PTPRN2 0 genome.wustl.edu 37 7 157926445 157926445 + Missense_Mutation SNP C C A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 7 157926445 157926445 C A SNP PTPRN2 ENST00000404321 human ensembl 74_37 -1 known missense c.1549 p.A517S 0.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC ENSG00000155093 120 0 0 83 20 19.4175 DNAH11 0 genome.wustl.edu 37 7 21630895 21630895 + Silent SNP G G A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 7 21630895 21630895 G A SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known silent c.2367 p.L789 0.970 pfam_Dynein_heavy_dom-1 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 69 0 0 34 16 32 ENSG00000272655 0 genome.wustl.edu 37 7 44058674 44058674 + RNA SNP G G A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 7 44058674 44058674 G A SNP ENSG00000272655 ENST00000326391 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors POLR2J4 Clone_based_vega_gene ENSG00000272655 66 0 0 53 13 19.697 AP5Z1 0 genome.wustl.edu 37 7 4831027 4831027 + RNA SNP G G T TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 7 4831027 4831027 G T SNP AP5Z1 ENST00000490487 human ensembl 74_37 +1 known rna NULL NULL 0.085 - - - no_errors AP5Z1 HGNC ENSG00000242802 11 0 0 20 7 25.9259 C1GALT1 0 genome.wustl.edu 37 7 7283186 7283186 + Missense_Mutation SNP C C T TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 7 7283186 7283186 C T SNP C1GALT1 ENST00000223122 human ensembl 74_37 +1 known missense c.920 p.S307F 1.000 NULL pfam_Fringe-like,pfam_Glyco_trans_31 - no_errors C1GALT1 HGNC ENSG00000106392 133 0 0 115 63 35.3933 COL14A1 0 genome.wustl.edu 37 8 121344951 121344951 + Missense_Mutation SNP C C A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 8 121344951 121344951 C A SNP COL14A1 ENST00000297848 human ensembl 74_37 +1 known missense c.4762 p.P1588T 0.976 pfam_Collagen pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 27 0 0 23 5 17.8571 CSMD1 0 genome.wustl.edu 37 8 2967802 2967802 + Missense_Mutation SNP A A C TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 8 2967802 2967802 A C SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.6489 p.F2163L 0.997 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 22 0 0 14 4 22.2222 PRDM14 0 genome.wustl.edu 37 8 70980506 70980506 + Missense_Mutation SNP T T C TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 8 70980506 70980506 T C SNP PRDM14 ENST00000276594 human ensembl 74_37 -1 known missense c.871 p.S291G 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM14 HGNC ENSG00000147596 136 0 0 85 29 25.4386 HEY1 0 genome.wustl.edu 37 8 80677768 80677768 + Silent SNP G G A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 8 80677768 80677768 G A SNP HEY1 ENST00000337919 human ensembl 74_37 -1 known silent c.582 p.I194 0.883 NULL pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom - no_errors HEY1 HGNC ENSG00000164683 65 0 0 36 11 23.4043 PAG1 0 genome.wustl.edu 37 8 81897495 81897495 + Missense_Mutation SNP C C T TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 8 81897495 81897495 C T SNP PAG1 ENST00000220597 human ensembl 74_37 -1 known missense c.392 p.R131Q 1.000 NULL NULL - no_errors PAG1 HGNC ENSG00000076641 55 0 0 29 5 14.7059 MMP16 0 genome.wustl.edu 37 8 89053829 89053829 + Missense_Mutation SNP C C A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 8 89053829 89053829 C A SNP MMP16 ENST00000286614 human ensembl 74_37 -1 known missense c.1684 p.V562L 1.000 pfam_Pept_M10A_metallopeptidase_C pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP16 HGNC ENSG00000156103 92 0 0 89 14 13.5922 C9orf84 0 genome.wustl.edu 37 9 114464476 114464476 + Missense_Mutation SNP A A G TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 9 114464476 114464476 A G SNP C9orf84 ENST00000318737 human ensembl 74_37 -1 known missense c.2806 p.S936P 1.000 NULL superfamily_RuvA_2-like - no_errors C9orf84 HGNC ENSG00000165181 41 0 0 38 9 19.1489 C9orf84 0 genome.wustl.edu 37 9 114500580 114500580 + Missense_Mutation SNP G G A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 9 114500580 114500580 G A SNP C9orf84 ENST00000318737 human ensembl 74_37 -1 known missense c.1205 p.T402M 0.002 NULL superfamily_RuvA_2-like - no_errors C9orf84 HGNC ENSG00000165181 40 0 0 24 3 11.1111 ASTN2 0 genome.wustl.edu 37 9 119976979 119976979 + Missense_Mutation SNP C C T TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 9 119976979 119976979 C T SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.673 p.V225M 0.998 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 60 0 0 41 9 18 RBM18 0 genome.wustl.edu 37 9 125023768 125023768 + Missense_Mutation SNP C C T TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 9 125023768 125023768 C T SNP RBM18 ENST00000417201 human ensembl 74_37 -1 known missense c.4 p.E2K 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM18 HGNC ENSG00000119446 77 0 0 50 5 9.09091 SPTAN1 0 genome.wustl.edu 37 9 131381150 131381150 + Silent SNP G G C TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 9 131381150 131381150 G C SNP SPTAN1 ENST00000358161 human ensembl 74_37 +1 known silent c.5601 p.R1867 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 109 0 0 81 5 5.81395 FAM166B 0 genome.wustl.edu 37 9 35563035 35563035 + Missense_Mutation SNP C C A TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 9 35563035 35563035 C A SNP FAM166B ENST00000447837 human ensembl 74_37 -1 known missense c.329 p.S110I 1.000 NULL pfam_UPF0573/UPF0605 - no_errors FAM166B HGNC ENSG00000215187 39 0 0 27 6 18.1818 PRUNE2 0 genome.wustl.edu 37 9 79326133 79326133 + Missense_Mutation SNP T T C TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 9 79326133 79326133 T C SNP PRUNE2 ENST00000376718 human ensembl 74_37 -1 novel missense c.1057 p.I353V 1.000 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,pfam_DHHA2,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 36 0 0 27 5 15.625 VPS13A 0 genome.wustl.edu 37 9 79865064 79865064 + Missense_Mutation SNP A A C TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 9 79865064 79865064 A C SNP VPS13A ENST00000360280 human ensembl 74_37 +1 known missense c.2089 p.N697H 0.003 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 76 0 0 42 16 27.5862 ARSE 0 genome.wustl.edu 37 X 2867424 2867424 + Missense_Mutation SNP G G C TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 X 2867424 2867424 G C SNP ARSE ENST00000545496 human ensembl 74_37 -1 known missense c.850 p.H284D 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ARSE HGNC ENSG00000157399 53 0 0 38 4 9.52381 ACACB 0 genome.wustl.edu 37 12 109693967 109693981 + In_Frame_Del DEL CGGATTCTTTGACCA CGGATTCTTTGACCA - TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 CGGATTCTTTGACCA CGGATTCTTTGACCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 12 109693967 109693981 CGGATTCTTTGACCA - DEL ACACB ENST00000338432 human ensembl 74_37 +1 known in_frame_del c.6189_6203 p.FFDHG2065in_frame_del 0.997:1.000:1.000:0.782:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.999 pfam_Carboxyl_trans,pfscan_COA_CT_C pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 110 0 0 85 8 8.60215 ACLY 0 genome.wustl.edu 37 17 40030139 40030139 + Frame_Shift_Del DEL C C - TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 17 40030139 40030139 C - DEL ACLY ENST00000352035 human ensembl 74_37 -1 known frame_shift_del c.2567 p.G856fs 1.000 superfamily_Citrate_synthase-like_core,pirsf_ATP-citrate_synthase pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase - no_errors ACLY HGNC ENSG00000131473 84 0 0 71 17 19.3182 SNX17 0 genome.wustl.edu 37 2 27595527 27595528 + Frame_Shift_Ins INS - - C TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 2 27595527 27595528 - C INS SNX17 ENST00000233575 human ensembl 74_37 +1 known frame_shift_ins c.176_177 p.K63fs 1.000:1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,superfamily_FERM_central,smart_Phox,pfscan_Phox,pfscan_Ras-assoc - no_errors SNX17 HGNC ENSG00000115234 77 0 0 98 24 19.6721 AP3S1 0 genome.wustl.edu 37 5 115202418 115202421 + Frame_Shift_Del DEL AAGA AAGA - TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 AAGA AAGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 5 115202418 115202421 AAGA - DEL AP3S1 ENST00000316788 human ensembl 74_37 +1 known frame_shift_del c.121_124 p.K41fs 1.000:1.000:1.000:1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu - no_errors AP3S1 HGNC ENSG00000177879 57 0 0 47 7 12.963 CEP57L1 0 genome.wustl.edu 37 6 109480614 109480617 + Frame_Shift_Del DEL ATTT ATTT - TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 ATTT ATTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 6 109480614 109480617 ATTT - DEL CEP57L1 ENST00000359793 human ensembl 74_37 +1 known frame_shift_del c.965_968 p.S324fs 0.657:0.684:0.727:0.928 pfam_Cep57_MT-bd_dom pfam_Cep57_MT-bd_dom - no_errors CEP57L1 HGNC ENSG00000183137 143 0 0 86 14 14 RECQL4 0 genome.wustl.edu 37 8 145741513 145741518 + In_Frame_Del DEL AGCCCT AGCCCT - TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 AGCCCT AGCCCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 8 145741513 145741518 AGCCCT - DEL RECQL4 ENST00000428558 human ensembl 74_37 -1 known in_frame_del c.990_985 p.RA329in_frame_del 0.000:0.000:0.000:0.000:0.000:0.000 NULL pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DNA_rep_checkpnt_protein,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL4 HGNC ENSG00000160957 144 0 0 92 11 10.6796 PSKH2 0 genome.wustl.edu 37 8 87076394 87076394 + Frame_Shift_Del DEL T T - TCGA-BR-A4IY-01A-11D-A25D-08 TCGA-BR-A4IY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5988941-c04e-4acd-aaaa-e1a8caf1d68f 7b0b2c41-547a-4afe-b064-1fd5068ec402 8 87076394 87076394 T - DEL PSKH2 ENST00000276616 human ensembl 74_37 -1 known frame_shift_del c.652 p.T218fs 0.799 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 PSKH2 HGNC ENSG00000147613 82 0 0 75 7 8.53659