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 CHIA 0 genome.wustl.edu 37 1 111862020 111862020 + Silent SNP C C T TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 1 111862020 111862020 C T SNP CHIA ENST00000343320 human ensembl 74_37 +1 known silent c.1107 p.G369 0.988 superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro18cat,pfam_Chitin-bd_dom,superfamily_Glycoside_hydrolase_SF,superfamily_Chitin-bd_dom,smart_Chitinase_II,smart_Chitin-bd_dom,pfscan_Chitin-bd_dom - no_errors CHIA HGNC ENSG00000134216 88 0 0 34 18 34.6154 NOTCH2 0 genome.wustl.edu 37 1 120548152 120548152 + Missense_Mutation SNP C C T TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 1 120548152 120548152 C T SNP NOTCH2 ENST00000256646 human ensembl 74_37 -1 known missense c.215 p.R72H 0.000 pirsf_Notch,pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 84 0 0 37 26 41.2698 FLG2 0 genome.wustl.edu 37 1 152327441 152327441 + Missense_Mutation SNP T T G TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 1 152327441 152327441 T G SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known missense c.2821 p.S941R 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 543 0 0 246 112 31.2849 INTS3 0 genome.wustl.edu 37 1 153723611 153723611 + Missense_Mutation SNP G G A TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 1 153723611 153723611 G A SNP INTS3 ENST00000318967 human ensembl 74_37 +1 known missense c.625 p.V209I 0.950 NULL pfam_Int_cplx_su3 - no_errors INTS3 HGNC ENSG00000143624 74 0 0 24 3 11.1111 PAPPA2 0 genome.wustl.edu 37 1 176563946 176563946 + Silent SNP T T G TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 1 176563946 176563946 T G SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known silent c.1206 p.S402 0.000 superfamily_ConA-like_lec_gl_sf,smart_LamG-like 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 213 0 0 63 36 36.3636 KCNT2 0 genome.wustl.edu 37 1 196342281 196342281 + Silent SNP G G T TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 1 196342281 196342281 G T SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known silent c.1392 p.T464 1.000 pfam_K_chnl_Ca-activ_BK_asu pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 70 0 0 22 11 33.3333 CFH 0 genome.wustl.edu 37 1 196695659 196695659 + Missense_Mutation SNP A A G TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 1 196695659 196695659 A G SNP CFH ENST00000367429 human ensembl 74_37 +1 known missense c.1933 p.T645A 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 61 0 0 34 9 20.9302 GPATCH2 0 genome.wustl.edu 37 1 217622646 217622646 + Silent SNP C C T TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 1 217622646 217622646 C T SNP GPATCH2 ENST00000366935 human ensembl 74_37 -1 known silent c.1311 p.T437 0.864 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH2 HGNC ENSG00000092978 81 0 0 53 23 30.2632 HSPG2 0 genome.wustl.edu 37 1 22199882 22199882 + Missense_Mutation SNP C C G TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 1 22199882 22199882 C G SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.3779 p.G1260A 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 308 1 0.323625 103 42 28.9655 OBSCN 0 genome.wustl.edu 37 1 228434298 228434298 + Missense_Mutation SNP C C T TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 1 228434298 228434298 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.3827 p.A1276V 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 194 0 0 43 3 6.52174 CSMD2 0 genome.wustl.edu 37 1 34090854 34090854 + Missense_Mutation SNP G G A TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 1 34090854 34090854 G A SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.5297 p.A1766V 1.000 superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 24 0 0 9 6 40 CAP1 0 genome.wustl.edu 37 1 40535490 40535490 + Missense_Mutation SNP C C G TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 1 40535490 40535490 C G SNP CAP1 ENST00000372792 human ensembl 74_37 +1 known missense c.937 p.R313G 0.996 NULL pfam_Adenylate_cyclase-assoc_CAP_N,pfam_Adenylate_cyclase-assoc_CAP_C,superfamily_Adenylate_cyclase-assoc_CAP_N,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif - no_errors CAP1 HGNC ENSG00000131236 152 1 0.653595 50 28 35.8974 TACC2 0 genome.wustl.edu 37 10 123845412 123845412 + Missense_Mutation SNP G G A TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 10 123845412 123845412 G A SNP TACC2 ENST00000334433 human ensembl 74_37 +1 known missense c.3397 p.G1133S 0.000 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 102 0 0 50 3 5.66038 GPR26 0 genome.wustl.edu 37 10 125426129 125426129 + Missense_Mutation SNP C C T TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 10 125426129 125426129 C T SNP GPR26 ENST00000284674 human ensembl 74_37 +1 known missense c.206 p.A69V 0.891 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR26 HGNC ENSG00000154478 23 0 0 4 3 42.8571 CPXM2 0 genome.wustl.edu 37 10 125557575 125557575 + Missense_Mutation SNP C C T TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 10 125557575 125557575 C T SNP CPXM2 ENST00000241305 human ensembl 74_37 -1 known missense c.806 p.R269H 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors CPXM2 HGNC ENSG00000121898 94 0 0 31 17 35.4167 GPR123 0 genome.wustl.edu 37 10 134941940 134941940 + Missense_Mutation SNP G G A TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 10 134941940 134941940 G A SNP GPR123 ENST00000607359 human ensembl 74_37 +1 putative missense c.2765 p.R922H 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like - no_errors GPR123 HGNC ENSG00000197177 21 0 0 10 7 41.1765 DIP2C 0 genome.wustl.edu 37 10 486827 486827 + Silent SNP G G A TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 10 486827 486827 G A SNP DIP2C ENST00000280886 human ensembl 74_37 -1 known silent c.378 p.D126 0.962 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2C HGNC ENSG00000151240 103 0 0 22 19 46.3415 PCDH15 0 genome.wustl.edu 37 10 55698634 55698634 + Missense_Mutation SNP A A C TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 10 55698634 55698634 A C SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.3314 p.L1105R 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 97 0 0 60 28 31.8182 CCAR1 0 genome.wustl.edu 37 10 70496773 70496773 + Missense_Mutation SNP C C A TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 10 70496773 70496773 C A SNP CCAR1 ENST00000265872 human ensembl 74_37 +1 known missense c.214 p.Q72K 1.000 NULL pfam_SAP_dom,superfamily_NA-bd_OB-fold,smart_SAP_dom,pfscan_SAP_dom - no_errors CCAR1 HGNC ENSG00000060339 68 0 0 40 17 29.8246 ITIH5 0 genome.wustl.edu 37 10 7621729 7621729 + Silent SNP C C T TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 10 7621729 7621729 C T SNP ITIH5 ENST00000256861 human ensembl 74_37 -1 known silent c.1407 p.S469 0.000 smart_VWF_A,pfscan_VWF_A pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 201 0 0 62 13 17.3333 HELLS 0 genome.wustl.edu 37 10 96348000 96348000 + Silent SNP C C T TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 10 96348000 96348000 C T SNP HELLS ENST00000371332 human ensembl 74_37 +1 known silent c.1479 p.F493 1.000 pfam_SNF2_N pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELLS HGNC ENSG00000119969 25 0 0 18 7 28 PCSK7 0 genome.wustl.edu 37 11 117100244 117100244 + Missense_Mutation SNP G G A TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 11 117100244 117100244 G A SNP PCSK7 ENST00000320934 human ensembl 74_37 -1 known missense c.317 p.P106L 0.000 superfamily_Prot_inh_propept pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK7 HGNC ENSG00000160613 153 0 0 53 23 30.2632 PHLDB1 0 genome.wustl.edu 37 11 118502879 118502879 + Missense_Mutation SNP G G A TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 11 118502879 118502879 G A SNP PHLDB1 ENST00000361417 human ensembl 74_37 +1 known missense c.2245 p.E749K 1.000 NULL pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB1 HGNC ENSG00000019144 121 1 0.819672 39 23 37.0968 VPS11 0 genome.wustl.edu 37 11 118938709 118938709 + Silent SNP C C T TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 11 118938709 118938709 C T SNP VPS11 ENST00000300793 human ensembl 74_37 +1 known silent c.175 p.L59 0.993 pirsf_VPS11 pfam_VPS11_C,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_RING,pirsf_VPS11,pfscan_Znf_RING - no_errors VPS11 HGNC ENSG00000160695 26 0 0 14 8 36.3636 TMEM151A 0 genome.wustl.edu 37 11 66062277 66062277 + Missense_Mutation SNP G G A TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 11 66062277 66062277 G A SNP TMEM151A ENST00000327259 human ensembl 74_37 +1 known missense c.560 p.R187H 1.000 NULL NULL - no_errors TMEM151A HGNC ENSG00000179292 8 0 0 1 3 75 ARAP1 0 genome.wustl.edu 37 11 72421453 72421453 + Missense_Mutation SNP C C G TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 11 72421453 72421453 C G SNP ARAP1 ENST00000393609 human ensembl 74_37 -1 known missense c.1393 p.V465L 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP1 HGNC ENSG00000186635 239 0 0 142 8 5.33333 CLEC1A 0 genome.wustl.edu 37 12 10233947 10233947 + Missense_Mutation SNP C C G TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 12 10233947 10233947 C G SNP CLEC1A ENST00000315330 human ensembl 74_37 -1 known missense c.280 p.G94R 0.967 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC1A HGNC ENSG00000150048 89 0 0 54 16 22.8571 RPH3A 0 genome.wustl.edu 37 12 113328750 113328750 + Missense_Mutation SNP C C T TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 12 113328750 113328750 C T SNP RPH3A ENST00000389385 human ensembl 74_37 +1 known missense c.1717 p.R573C 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin pfam_C2_dom,pfam_Znf_FYVE-typ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom - no_errors RPH3A HGNC ENSG00000089169 57 0 0 12 4 25 KRT75 0 genome.wustl.edu 37 12 52822136 52822136 + Missense_Mutation SNP C C G TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 12 52822136 52822136 C G SNP KRT75 ENST00000252245 human ensembl 74_37 -1 known missense c.1286 p.R429P 0.997 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT75 HGNC ENSG00000170454 136 1 0.729927 30 22 42.3077 NEUROD4 0 genome.wustl.edu 37 12 55420636 55420636 + Missense_Mutation SNP C C T TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 12 55420636 55420636 C T SNP NEUROD4 ENST00000242994 human ensembl 74_37 +1 known missense c.413 p.A138V 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD4 HGNC ENSG00000123307 121 0 0 54 21 28 KCNC2 0 genome.wustl.edu 37 12 75444552 75444552 + Silent SNP G G A TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 12 75444552 75444552 G A SNP KCNC2 ENST00000549446 human ensembl 74_37 -1 known silent c.1233 p.N411 0.996 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC2 HGNC ENSG00000166006 98 0 0 37 20 35.0877 LIN7A 0 genome.wustl.edu 37 12 81205323 81205323 + Missense_Mutation SNP C C T TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 12 81205323 81205323 C T SNP LIN7A ENST00000552864 human ensembl 74_37 -1 known missense c.623 p.R208H 1.000 pirsf_Lin-7_homologue pfam_PDZ,pfam_L27_C,superfamily_PDZ,smart_L27,smart_PDZ,pirsf_Lin-7_homologue,pfscan_L27,pfscan_PDZ - no_errors LIN7A HGNC ENSG00000111052 47 0 0 14 9 39.1304 ARHGEF7 0 genome.wustl.edu 37 13 111767941 111767941 + Missense_Mutation SNP C C A TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 13 111767941 111767941 C A SNP ARHGEF7 ENST00000375741 human ensembl 74_37 +1 known missense c.68 p.T23N 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain - no_errors ARHGEF7 HGNC ENSG00000102606 55 0 0 15 14 48.2759 TUBA3C 0 genome.wustl.edu 37 13 19752452 19752452 + Silent SNP G G A TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 13 19752452 19752452 G A SNP TUBA3C ENST00000400113 human ensembl 74_37 -1 known silent c.309 p.Y103 0.999 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3C HGNC ENSG00000198033 195 0 0 100 32 24.2424 N4BP2L2 0 genome.wustl.edu 37 13 33016958 33016958 + Silent SNP T T G TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 13 33016958 33016958 T G SNP N4BP2L2 ENST00000399396 human ensembl 74_37 -1 known silent c.1716 p.G572 0.000 NULL superfamily_P-loop_NTPase - no_errors N4BP2L2 HGNC ENSG00000244754 30 0 0 35 17 32.6923 RPL10L 0 genome.wustl.edu 37 14 47120473 47120473 + Missense_Mutation SNP T T C TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 14 47120473 47120473 T C SNP RPL10L ENST00000298283 human ensembl 74_37 -1 known missense c.467 p.K156R 1.000 pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e - no_errors RPL10L HGNC ENSG00000165496 150 0 0 64 29 31.1828 NGB 0 genome.wustl.edu 37 14 77732917 77732917 + Missense_Mutation SNP C C T TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 14 77732917 77732917 C T SNP NGB ENST00000298352 human ensembl 74_37 -1 known missense c.418 p.V140I 0.995 superfamily_Globin-like,pfscan_Globin pfam_Globin,superfamily_Globin-like,pfscan_Globin - no_errors NGB HGNC ENSG00000165553 113 0 0 34 20 37.037 UNC45A 0 genome.wustl.edu 37 15 91488262 91488262 + Missense_Mutation SNP A A G TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 15 91488262 91488262 A G SNP UNC45A ENST00000418476 human ensembl 74_37 +1 known missense c.1168 p.N390D 1.000 pfam_UNC-45/Ring3 pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UNC45A HGNC ENSG00000140553 97 0 0 45 21 31.8182 CACNA1H 0 genome.wustl.edu 37 16 1248716 1248716 + Missense_Mutation SNP G G A TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 16 1248716 1248716 G A SNP CACNA1H ENST00000348261 human ensembl 74_37 +1 known missense c.745 p.V249I 0.996 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 76 0 0 34 16 32 GP2 0 genome.wustl.edu 37 16 20335362 20335362 + Missense_Mutation SNP G G A TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 16 20335362 20335362 G A SNP GP2 ENST00000381362 human ensembl 74_37 -1 known missense c.311 p.S104L 0.971 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors GP2 HGNC ENSG00000169347 145 1 0.684932 47 30 38.961 CCDC64B 0 genome.wustl.edu 37 16 3079379 3079379 + Missense_Mutation SNP G G T TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 16 3079379 3079379 G T SNP CCDC64B ENST00000389347 human ensembl 74_37 -1 known missense c.1009 p.P337T 0.109 NULL superfamily_Sig_transdc_His_kinase_dimeric - no_errors CCDC64B HGNC ENSG00000162069 50 0 0 12 4 25 CCDC64B 0 genome.wustl.edu 37 16 3080765 3080765 + Missense_Mutation SNP C C T TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 16 3080765 3080765 C T SNP CCDC64B ENST00000389347 human ensembl 74_37 -1 known missense c.547 p.G183R 0.647 superfamily_Sig_transdc_His_kinase_dimeric superfamily_Sig_transdc_His_kinase_dimeric - no_errors CCDC64B HGNC ENSG00000162069 44 0 0 7 5 41.6667 SLC12A3 0 genome.wustl.edu 37 16 56904589 56904589 + Missense_Mutation SNP G G A TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 16 56904589 56904589 G A SNP SLC12A3 ENST00000438926 human ensembl 74_37 +1 known missense c.793 p.V265M 0.980 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A3 HGNC ENSG00000070915 89 0 0 29 13 30.9524 SF3B3 0 genome.wustl.edu 37 16 70563087 70563087 + Missense_Mutation SNP C C G TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 16 70563087 70563087 C G SNP SF3B3 ENST00000302516 human ensembl 74_37 +1 known missense c.382 p.R128G 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom - no_errors SF3B3 HGNC ENSG00000189091 119 1 0.833333 43 19 30.6452 TCF25 0 genome.wustl.edu 37 16 89977665 89977665 + RNA SNP G G A TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 16 89977665 89977665 G A SNP TCF25 ENST00000564957 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TCF25 HGNC ENSG00000141002 87 0 0 31 10 24.3902 CORO6 0 genome.wustl.edu 37 17 27949748 27949748 + RNA SNP C C T TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 17 27949748 27949748 C T SNP CORO6 ENST00000577909 human ensembl 74_37 -1 known rna NULL NULL 0.963 - - - no_errors CORO6 HGNC ENSG00000167549 10 0 0 4 7 63.6364 CASC3 0 genome.wustl.edu 37 17 38318075 38318075 + Missense_Mutation SNP G G C TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 17 38318075 38318075 G C SNP CASC3 ENST00000264645 human ensembl 74_37 +1 known missense c.367 p.V123L 1.000 NULL pfam_Btz_dom - no_errors CASC3 HGNC ENSG00000108349 101 0 0 153 25 14.0449 SPPL2C 0 genome.wustl.edu 37 17 43924090 43924090 + Silent SNP C C T TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 17 43924090 43924090 C T SNP SPPL2C ENST00000329196 human ensembl 74_37 +1 known silent c.1818 p.D606 0.367 NULL pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Preselin/SPP - no_errors SPPL2C HGNC ENSG00000185294 196 0 0 33 22 40 SPATA20 0 genome.wustl.edu 37 17 48628511 48628511 + Silent SNP C C A TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 17 48628511 48628511 C A SNP SPATA20 ENST00000006658 human ensembl 74_37 +1 known silent c.1536 p.P512 0.001 superfamily_6-hairpin_glycosidase-like pfam_DUF255,pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like,superfamily_Thioredoxin-like_fold - no_errors SPATA20 HGNC ENSG00000006282 55 0 0 19 19 50 CTDNEP1 0 genome.wustl.edu 37 17 7147528 7147528 + Missense_Mutation SNP G G C TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 17 7147528 7147528 G C SNP CTDNEP1 ENST00000318988 human ensembl 74_37 -1 known missense c.711 p.N237K 1.000 NULL pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase - no_errors CTDNEP1 HGNC ENSG00000175826 63 0 0 12 13 52 TP53 0 genome.wustl.edu 37 17 7577082 7577082 + Missense_Mutation SNP C C T TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 17 7577082 7577082 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.856 p.E286K 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 84 0 0 22 21 48.8372 ENSG00000214999 0 genome.wustl.edu 37 17 7983799 7983799 + Silent SNP A A G TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 17 7983799 7983799 A G SNP ENSG00000214999 ENST00000399413 human ensembl 74_37 +1 putative silent c.480 p.R160 0.000 NULL NULL - no_errors AC129492.6 Clone_based_vega_gene ENSG00000214999 20 0 0 5 2 28.5714 NOTUM 0 genome.wustl.edu 37 17 79910990 79910990 + Silent SNP G G A TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 17 79910990 79910990 G A SNP NOTUM ENST00000409678 human ensembl 74_37 -1 known silent c.1338 p.N446 1.000 NULL pfam_NOTUM - no_errors NOTUM HGNC ENSG00000185269 61 0 0 86 9 9.47368 SLC16A3 0 genome.wustl.edu 37 17 80195301 80195301 + Missense_Mutation SNP G G A TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 17 80195301 80195301 G A SNP SLC16A3 ENST00000392339 human ensembl 74_37 +1 known missense c.655 p.D219N 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A3 HGNC ENSG00000141526 18 0 0 23 3 11.5385 CTAGE1 0 genome.wustl.edu 37 18 19995683 19995683 + Nonsense_Mutation SNP C C A TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 18 19995683 19995683 C A SNP CTAGE1 ENST00000391403 human ensembl 74_37 -1 known nonsense c.2092 p.G698* 0.383 NULL NULL - no_errors CTAGE1 HGNC ENSG00000212710 173 1 0.574713 64 63 49.6063 RIOK3 0 genome.wustl.edu 37 18 21053570 21053570 + Silent SNP A A G TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 18 21053570 21053570 A G SNP RIOK3 ENST00000339486 human ensembl 74_37 +1 known silent c.993 p.K331 1.000 pfam_RIO-like_kinase,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio3 pfam_RIO-like_kinase,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio3 - no_errors RIOK3 HGNC ENSG00000101782 40 0 0 25 12 32.4324 ZNF521 0 genome.wustl.edu 37 18 22804824 22804824 + Missense_Mutation SNP A A C TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 18 22804824 22804824 A C SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known missense c.3058 p.F1020V 0.998 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 94 0 0 41 31 43.0556 DSC2 0 genome.wustl.edu 37 18 28649082 28649082 + Silent SNP G G A TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 18 28649082 28649082 G A SNP DSC2 ENST00000280904 human ensembl 74_37 -1 known silent c.2286 p.G762 0.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin,prints_Desmosomal_cadherin - no_errors DSC2 HGNC ENSG00000134755 98 0 0 42 3 6.66667 EPB41L3 0 genome.wustl.edu 37 18 5397266 5397266 + Missense_Mutation SNP C C T TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 18 5397266 5397266 C T SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known missense c.2632 p.G878R 0.000 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 164 0 0 67 51 43.2203 ZNF516 0 genome.wustl.edu 37 18 74091693 74091693 + Missense_Mutation SNP G G C TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 18 74091693 74091693 G C SNP ZNF516 ENST00000443185 human ensembl 74_37 -1 known missense c.2377 p.P793A 0.009 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF516 HGNC ENSG00000101493 76 0 0 13 12 48 C3P1 0 genome.wustl.edu 37 19 10160713 10160713 + RNA SNP G G A TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 19 10160713 10160713 G A SNP C3P1 ENST00000495140 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors C3P1 HGNC ENSG00000167798 164 0 0 57 14 19.7183 MAP1S 0 genome.wustl.edu 37 19 17836661 17836661 + Silent SNP G G A TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 19 17836661 17836661 G A SNP MAP1S ENST00000324096 human ensembl 74_37 +1 known silent c.468 p.T156 0.000 NULL NULL - no_errors MAP1S HGNC ENSG00000130479 145 0 0 49 16 24.6154 ISYNA1 0 genome.wustl.edu 37 19 18546941 18546941 + Silent SNP C C T TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 19 18546941 18546941 C T SNP ISYNA1 ENST00000338128 human ensembl 74_37 -1 known silent c.876 p.A292 0.000 pfam_Myo-inos-1-P_Synthase,pirsf_Myo-inos-1-P_Synthase pfam_Myo-inos-1-P_Synthase,pfam_Myo-inos-1-P_Synthase_GAPDH,pirsf_Myo-inos-1-P_Synthase - no_errors ISYNA1 HGNC ENSG00000105655 59 0 0 13 6 31.5789 ZNF729 0 genome.wustl.edu 37 19 22498532 22498532 + Missense_Mutation SNP A A T TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 19 22498532 22498532 A T SNP ZNF729 ENST00000601693 human ensembl 74_37 +1 novel missense c.2313 p.E771D 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 ZNF729 HGNC ENSG00000196350 24 0 0 21 9 30 TMPRSS9 0 genome.wustl.edu 37 19 2422066 2422066 + Missense_Mutation SNP C C G TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 19 2422066 2422066 C G SNP TMPRSS9 ENST00000332578 human ensembl 74_37 +1 known missense c.2267 p.P756R 0.000 pirsf_Pept_S1A_polyserase-1 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors TMPRSS9 HGNC ENSG00000178297 181 0 0 56 31 35.6322 GSK3A 0 genome.wustl.edu 37 19 42736836 42736836 + Splice_Site SNP T T C TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 19 42736836 42736836 T C SNP GSK3A ENST00000222330 human ensembl 74_37 -1 known splice_site c.1099-2 e9-2 0.999 - - - no_errors GSK3A HGNC ENSG00000105723 67 0 0 15 7 31.8182 CEACAM8 0 genome.wustl.edu 37 19 43098028 43098028 + Missense_Mutation SNP G G A TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 19 43098028 43098028 G A SNP CEACAM8 ENST00000244336 human ensembl 74_37 -1 known missense c.89 p.P30L 0.034 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM8 HGNC ENSG00000124469 218 0 0 98 36 26.8657 KLK13 0 genome.wustl.edu 37 19 51559976 51559976 + Nonsense_Mutation SNP C C T TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 19 51559976 51559976 C T SNP KLK13 ENST00000595793 human ensembl 74_37 -1 known nonsense c.702 p.W234* 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK13 HGNC ENSG00000167759 178 0 0 79 28 26.1682 MLLT1 0 genome.wustl.edu 37 19 6227101 6227101 + Missense_Mutation SNP G G A TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 19 6227101 6227101 G A SNP MLLT1 ENST00000252674 human ensembl 74_37 -1 known missense c.433 p.P145S 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT1 HGNC ENSG00000130382 116 0 0 54 3 5.26316 GLI2 0 genome.wustl.edu 37 2 121747767 121747767 + Missense_Mutation SNP C C T TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 2 121747767 121747767 C T SNP GLI2 ENST00000361492 human ensembl 74_37 +1 known missense c.4277 p.S1426L 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 128 0 0 41 15 26.7857 LRP1B 0 genome.wustl.edu 37 2 141660732 141660732 + Missense_Mutation SNP C C G TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 2 141660732 141660732 C G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.3523 p.E1175Q 1.000 smart_LDrepeatLR_classA_rpt,smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 38 0 0 40 14 25.9259 ARHGAP15 0 genome.wustl.edu 37 2 143974011 143974011 + Missense_Mutation SNP T T A TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 2 143974011 143974011 T A SNP ARHGAP15 ENST00000295095 human ensembl 74_37 +1 known missense c.293 p.L98Q 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP15 HGNC ENSG00000075884 53 0 0 38 11 22.449 KIF5C 0 genome.wustl.edu 37 2 149818628 149818628 + Missense_Mutation SNP G G A TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 2 149818628 149818628 G A SNP KIF5C ENST00000435030 human ensembl 74_37 +1 known missense c.1112 p.R371K 1.000 superfamily_P-loop_NTPase pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF5C HGNC ENSG00000168280 25 0 0 23 9 28.125 SCN7A 0 genome.wustl.edu 37 2 167284334 167284334 + Silent SNP A A G TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 2 167284334 167284334 A G SNP SCN7A ENST00000409855 human ensembl 74_37 -1 known silent c.2817 p.F939 0.999 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 41 0 0 14 4 22.2222 TTN 0 genome.wustl.edu 37 2 179604547 179604547 + Missense_Mutation SNP C C T TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 2 179604547 179604547 C T SNP TTN ENST00000342175 human ensembl 74_37 -1 known missense c.12900 p.M4300I 0.002 superfamily_RNaseH-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,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 210 0 0 136 57 29.5337 TTN 0 genome.wustl.edu 37 2 179634421 179634421 + Missense_Mutation SNP T T G TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 2 179634421 179634421 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.8887 p.T2963P 1.000 superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 124 1 0.8 75 32 29.9065 SPEG 0 genome.wustl.edu 37 2 220312960 220312960 + Silent SNP G G A TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 2 220312960 220312960 G A SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel silent c.1080 p.S360 0.148 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors SPEG HGNC ENSG00000072195 86 0 0 18 9 33.3333 PSME4 0 genome.wustl.edu 37 2 54128631 54128631 + Missense_Mutation SNP G G T TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 2 54128631 54128631 G T SNP PSME4 ENST00000404125 human ensembl 74_37 -1 known missense c.3141 p.D1047E 1.000 superfamily_ARM-type_fold pfam_DUF3437,superfamily_ARM-type_fold - no_errors PSME4 HGNC ENSG00000068878 183 0 0 128 47 26.8571 CST4 0 genome.wustl.edu 37 20 23669411 23669411 + Missense_Mutation SNP G G A TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 20 23669411 23669411 G A SNP CST4 ENST00000217423 human ensembl 74_37 -1 known missense c.196 p.R66C 0.002 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST4 HGNC ENSG00000101441 137 0 0 73 18 19.7802 UBOX5 0 genome.wustl.edu 37 20 3102959 3102959 + Missense_Mutation SNP A A T TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 20 3102959 3102959 A T SNP UBOX5 ENST00000217173 human ensembl 74_37 -1 known missense c.326 p.V109D 0.001 NULL pfam_Ubox_domain,smart_Ubox_domain,pfscan_Znf_RING - no_errors UBOX5 HGNC ENSG00000185019 113 0 0 64 13 16.8831 PXMP4 0 genome.wustl.edu 37 20 32298497 32298497 + Missense_Mutation SNP C C T TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 20 32298497 32298497 C T SNP PXMP4 ENST00000409299 human ensembl 74_37 -1 known missense c.239 p.R80Q 0.995 pirsf_Pmp4 pirsf_Pmp4 - no_errors PXMP4 HGNC ENSG00000101417 69 0 0 37 7 15.9091 MYH7B 0 genome.wustl.edu 37 20 33588873 33588873 + Missense_Mutation SNP C C T TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 20 33588873 33588873 C T SNP MYH7B ENST00000262873 human ensembl 74_37 +1 novel missense c.5513 p.T1838M 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC ENSG00000078814 109 0 0 56 13 18.8406 PTPRT 0 genome.wustl.edu 37 20 40744684 40744684 + Missense_Mutation SNP C C T TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 20 40744684 40744684 C T SNP PTPRT ENST00000373184 human ensembl 74_37 -1 known missense c.3007 p.G1003R 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt 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 9 0 0 2 2 50 APOBEC3H 0 genome.wustl.edu 37 22 39498015 39498015 + Missense_Mutation SNP C C G TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 22 39498015 39498015 C G SNP APOBEC3H ENST00000442487 human ensembl 74_37 +1 known missense c.511 p.R171G 0.000 pfam_APOBEC_C pfam_APOBEC_N,pfam_APOBEC_C,pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like - no_errors APOBEC3H HGNC ENSG00000100298 100 0 0 29 16 35.5556 IGSF11 0 genome.wustl.edu 37 3 118644976 118644976 + Silent SNP G G T TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 3 118644976 118644976 G T SNP IGSF11 ENST00000393775 human ensembl 74_37 -1 known silent c.552 p.T184 0.998 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF11 HGNC ENSG00000144847 121 0 0 61 17 21.7949 ZXDC 0 genome.wustl.edu 37 3 126194460 126194460 + Missense_Mutation SNP G G C TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 3 126194460 126194460 G C SNP ZXDC ENST00000389709 human ensembl 74_37 -1 known missense c.249 p.H83Q 0.064 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZXDC HGNC ENSG00000070476 43 0 0 9 5 35.7143 DGKG 0 genome.wustl.edu 37 3 185986618 185986618 + Missense_Mutation SNP G G A TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 3 185986618 185986618 G A SNP DGKG ENST00000265022 human ensembl 74_37 -1 known missense c.1088 p.A363V 1.000 smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKG HGNC ENSG00000058866 79 0 0 20 9 31.0345 P4HTM 0 genome.wustl.edu 37 3 49042339 49042339 + Missense_Mutation SNP C C G TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 3 49042339 49042339 C G SNP P4HTM ENST00000343546 human ensembl 74_37 +1 known missense c.933 p.S311R 0.096 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors P4HTM HGNC ENSG00000178467 168 1 0.591716 71 32 31.068 BSN 0 genome.wustl.edu 37 3 49698362 49698362 + Silent SNP C C T TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 3 49698362 49698362 C T SNP BSN ENST00000296452 human ensembl 74_37 +1 known silent c.9084 p.P3028 0.001 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 119 0 0 35 10 22.2222 FAM212A 0 genome.wustl.edu 37 3 49842272 49842272 + Missense_Mutation SNP G G A TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 3 49842272 49842272 G A SNP FAM212A ENST00000333323 human ensembl 74_37 +1 known missense c.716 p.R239K 1.000 NULL NULL - no_errors FAM212A HGNC ENSG00000185614 262 0 0 71 33 31.7308 ST3GAL6 0 genome.wustl.edu 37 3 98512522 98512522 + Missense_Mutation SNP G G A TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 3 98512522 98512522 G A SNP ST3GAL6 ENST00000394162 human ensembl 74_37 +1 known missense c.913 p.A305T 0.381 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL6 HGNC ENSG00000064225 94 0 0 64 23 26.4368 UVSSA 0 genome.wustl.edu 37 4 1360175 1360175 + Missense_Mutation SNP A A C TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 4 1360175 1360175 A C SNP UVSSA ENST00000389851 human ensembl 74_37 +1 known missense c.1244 p.E415A 1.000 NULL pfam_DUF2043,superfamily_ENTH_VHS - no_errors UVSSA HGNC ENSG00000163945 339 0 0 104 32 23.5294 TRIML1 0 genome.wustl.edu 37 4 189063413 189063413 + Missense_Mutation SNP C C T TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 4 189063413 189063413 C T SNP TRIML1 ENST00000332517 human ensembl 74_37 +1 known missense c.512 p.T171I 0.991 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIML1 HGNC ENSG00000184108 60 0 0 17 8 32 CHRNA9 0 genome.wustl.edu 37 4 40351080 40351080 + Missense_Mutation SNP G G A TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 4 40351080 40351080 G A SNP CHRNA9 ENST00000310169 human ensembl 74_37 +1 known missense c.547 p.V183M 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA9 HGNC ENSG00000174343 221 0 0 109 53 32.716 PTPN13 0 genome.wustl.edu 37 4 87724881 87724881 + Silent SNP C C T TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 4 87724881 87724881 C T SNP PTPN13 ENST00000436978 human ensembl 74_37 +1 known silent c.6540 p.N2180 0.001 pirsf_Tyr_Pase_non-rcpt_typ-13 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 105 0 0 83 29 25.8929 FAM13A 0 genome.wustl.edu 37 4 89702371 89702371 + Missense_Mutation SNP C C T TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 4 89702371 89702371 C T SNP FAM13A ENST00000264344 human ensembl 74_37 -1 known missense c.1403 p.R468H 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13A HGNC ENSG00000138640 106 0 0 58 17 22.6667 BRD8 0 genome.wustl.edu 37 5 137503737 137503737 + Missense_Mutation SNP C C A TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 5 137503737 137503737 C A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.673 p.G225C 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 234 0 0 64 28 30.4348 BRD8 0 genome.wustl.edu 37 5 137503739 137503739 + Missense_Mutation SNP G G A TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 5 137503739 137503739 G A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.671 p.S224F 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 231 0 0 55 43 43.8776 DNAH5 0 genome.wustl.edu 37 5 13811889 13811889 + Missense_Mutation SNP C C T TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 5 13811889 13811889 C T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.7274 p.R2425H 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 81 0 0 35 15 30 COL23A1 0 genome.wustl.edu 37 5 177666176 177666176 + Missense_Mutation SNP G G A TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 5 177666176 177666176 G A SNP COL23A1 ENST00000390654 human ensembl 74_37 -1 known missense c.1586 p.P529L 0.818 NULL pfam_Collagen - no_errors COL23A1 HGNC ENSG00000050767 129 0 0 43 18 29.5082 RAI14 0 genome.wustl.edu 37 5 34826448 34826448 + Missense_Mutation SNP C C T TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 5 34826448 34826448 C T SNP RAI14 ENST00000515799 human ensembl 74_37 +1 known missense c.2672 p.S891L 0.999 superfamily_t-SNARE pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_t-SNARE,superfamily_UBA-like,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors RAI14 HGNC ENSG00000039560 104 1 0.952381 43 16 27.1186 CMYA5 0 genome.wustl.edu 37 5 79026748 79026748 + Silent SNP G G A TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 5 79026748 79026748 G A SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known silent c.2160 p.P720 0.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 92 0 0 44 10 18.5185 CFB 0 genome.wustl.edu 37 6 31915251 31915251 + Missense_Mutation SNP C C T TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 6 31915251 31915251 C T SNP CFB ENST00000556679 human ensembl 74_37 +1 known missense c.2117 p.T706M 0.001 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Peptidase_S1,pfam_VWF_A,pfam_Sushi_SCR_CCP,superfamily_Trypsin-like_Pept_dom,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_VWF_A,smart_Peptidase_S1,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors CFB HGNC ENSG00000243649 195 0 0 63 19 23.1707 TNXB 0 genome.wustl.edu 37 6 32036449 32036449 + Missense_Mutation SNP C C T TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 6 32036449 32036449 C T SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.5938 p.A1980T 0.000 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 132 0 0 31 16 34.0426 BAI3 0 genome.wustl.edu 37 6 70065746 70065746 + Nonsense_Mutation SNP C C T TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 6 70065746 70065746 C T SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known nonsense c.3589 p.R1197* 1.000 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 97 0 0 53 26 32.9114 RIMS1 0 genome.wustl.edu 37 6 72889429 72889429 + Missense_Mutation SNP A A C TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 6 72889429 72889429 A C SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.623 p.K208T 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 230 0 0 60 18 23.0769 HTR1B 0 genome.wustl.edu 37 6 78172243 78172243 + Missense_Mutation SNP C C T TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 6 78172243 78172243 C T SNP HTR1B ENST00000369947 human ensembl 74_37 -1 known missense c.878 p.R293Q 0.997 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1B_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1B_rcpt,prints_5HT_rcpt,prints_ADR_fam - no_errors HTR1B HGNC ENSG00000135312 364 0 0 130 53 28.9617 GPER1 0 genome.wustl.edu 37 7 1131745 1131745 + Silent SNP C C T TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 7 1131745 1131745 C T SNP GPER1 ENST00000297469 human ensembl 74_37 +1 known silent c.381 p.A127 0.003 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPER1 HGNC ENSG00000164850 186 0 0 76 43 36.1345 LRRC4 0 genome.wustl.edu 37 7 127670327 127670327 + Missense_Mutation SNP C C G TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 7 127670327 127670327 C G SNP LRRC4 ENST00000249363 human ensembl 74_37 -1 known missense c.367 p.A123P 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4 HGNC ENSG00000128594 141 0 0 53 22 29.3333 DGKI 0 genome.wustl.edu 37 7 137531227 137531227 + Missense_Mutation SNP G G A TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 7 137531227 137531227 G A SNP DGKI ENST00000288490 human ensembl 74_37 -1 known missense c.382 p.R128W 1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKI HGNC ENSG00000157680 84 0 0 18 5 21.7391 HIPK2 0 genome.wustl.edu 37 7 139416436 139416436 + Missense_Mutation SNP C C T TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 7 139416436 139416436 C T SNP HIPK2 ENST00000406875 human ensembl 74_37 -1 known missense c.398 p.R133H 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HIPK2 HGNC ENSG00000064393 74 0 0 23 22 48.8889 POM121 0 genome.wustl.edu 37 7 72412663 72412663 + Missense_Mutation SNP A A G TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 7 72412663 72412663 A G SNP POM121 ENST00000434423 human ensembl 74_37 +1 known missense c.2131 p.T711A 0.008 NULL NULL - no_errors POM121 HGNC ENSG00000196313 130 0 0 51 29 36.25 RP1L1 0 genome.wustl.edu 37 8 10469501 10469501 + Nonsense_Mutation SNP G G A TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 8 10469501 10469501 G A SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known nonsense c.2107 p.R703* 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 125 0 0 17 20 54.0541 CSMD3 0 genome.wustl.edu 37 8 113694815 113694815 + Missense_Mutation SNP G G A TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 8 113694815 113694815 G A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.2533 p.R845W 0.939 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 107 0 0 248 37 12.9825 CSMD3 0 genome.wustl.edu 37 8 113702269 113702269 + Silent SNP T T C TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 8 113702269 113702269 T C SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known silent c.1983 p.K661 0.998 superfamily_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 145 0 0 336 44 11.5789 ADCY8 0 genome.wustl.edu 37 8 132051788 132051788 + Silent SNP G G A TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 8 132051788 132051788 G A SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known silent c.792 p.Y264 0.980 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 74 0 0 86 7 7.52688 TUSC3 0 genome.wustl.edu 37 8 15517052 15517052 + Missense_Mutation SNP C C G TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 8 15517052 15517052 C G SNP TUSC3 ENST00000503731 human ensembl 74_37 +1 known missense c.463 p.P155A 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_OligosaccharylTrfase_OST3/OST6,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TUSC3 HGNC ENSG00000104723 87 0 0 48 3 5.88235 SNTG1 0 genome.wustl.edu 37 8 51465632 51465632 + Missense_Mutation SNP G G T TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 8 51465632 51465632 G T SNP SNTG1 ENST00000518864 human ensembl 74_37 +1 known missense c.703 p.A235S 1.000 smart_Pleckstrin_homology pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTG1 HGNC ENSG00000147481 75 0 0 138 19 12.1019 DNAJC5B 0 genome.wustl.edu 37 8 66989069 66989069 + Silent SNP C C T TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 8 66989069 66989069 C T SNP DNAJC5B ENST00000276570 human ensembl 74_37 +1 known silent c.294 p.N98 0.998 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC5B HGNC ENSG00000147570 195 0 0 212 39 15.5378 RALYL 0 genome.wustl.edu 37 8 85441713 85441713 + Missense_Mutation SNP G G A TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 8 85441713 85441713 G A SNP RALYL ENST00000521268 human ensembl 74_37 +1 known missense c.157 p.V53I 1.000 pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors RALYL HGNC ENSG00000184672 52 0 0 97 13 11.8182 TMEM246 0 genome.wustl.edu 37 9 104238826 104238826 + Silent SNP C C T TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 9 104238826 104238826 C T SNP TMEM246 ENST00000374847 human ensembl 74_37 -1 known silent c.549 p.S183 0.003 NULL NULL - no_errors TMEM246 HGNC ENSG00000165152 93 0 0 45 14 23.7288 PAPPA 0 genome.wustl.edu 37 9 119033625 119033625 + Silent SNP C C T TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 9 119033625 119033625 C T SNP PAPPA ENST00000328252 human ensembl 74_37 +1 known silent c.2883 p.D961 1.000 tigrfam_Myxo_disulph_rpt pfam_Sushi_SCR_CCP,pfam_Notch_dom,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 PAPPA HGNC ENSG00000182752 220 0 0 88 104 54.1667 GLT6D1 0 genome.wustl.edu 37 9 138518015 138518015 + Missense_Mutation SNP C C G TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 9 138518015 138518015 C G SNP GLT6D1 ENST00000371763 human ensembl 74_37 -1 known missense c.157 p.A53P 0.987 pfam_Glyco_trans_6 pfam_Glyco_trans_6 - no_errors GLT6D1 HGNC ENSG00000204007 118 0 0 64 31 32.6316 FRMD3 0 genome.wustl.edu 37 9 86153105 86153105 + Silent SNP G G A TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 9 86153105 86153105 G A SNP FRMD3 ENST00000304195 human ensembl 74_37 -1 known silent c.42 p.T14 0.979 NULL pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FRMD3 HGNC ENSG00000172159 21 0 0 9 10 52.6316 ZNF484 0 genome.wustl.edu 37 9 95609552 95609552 + Missense_Mutation SNP G G C TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 9 95609552 95609552 G C SNP ZNF484 ENST00000395506 human ensembl 74_37 -1 known missense c.1523 p.T508S 0.984 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF484 HGNC ENSG00000127081 133 0 0 118 27 18.6207 LRCH2 0 genome.wustl.edu 37 X 114468294 114468294 + Missense_Mutation SNP G G A TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da X 114468294 114468294 G A SNP LRCH2 ENST00000317135 human ensembl 74_37 -1 known missense c.311 p.P104L 1.000 NULL pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,superfamily_NA-bd_OB-fold,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH2 HGNC ENSG00000130224 9 0 0 6 3 33.3333 TXLNG 0 genome.wustl.edu 37 X 16847765 16847765 + Missense_Mutation SNP A A G TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da X 16847765 16847765 A G SNP TXLNG ENST00000380122 human ensembl 74_37 +1 known missense c.736 p.I246V 0.982 pfam_Taxilin_fam pfam_Taxilin_fam - no_errors TXLNG HGNC ENSG00000086712 80 0 0 26 3 10.3448 DMD 0 genome.wustl.edu 37 X 31191684 31191684 + Missense_Mutation SNP G G A TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da X 31191684 31191684 G A SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.10300 p.H3434Y 1.000 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 74 0 0 27 3 10 FAM47C 0 genome.wustl.edu 37 X 37028307 37028307 + Silent SNP G G A TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da X 37028307 37028307 G A SNP FAM47C ENST00000358047 human ensembl 74_37 +1 known silent c.1824 p.P608 0.000 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 89 0 0 22 38 63.3333 SYN1 0 genome.wustl.edu 37 X 47435945 47435945 + Missense_Mutation SNP T T C TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da X 47435945 47435945 T C SNP SYN1 ENST00000295987 human ensembl 74_37 -1 known missense c.932 p.K311R 1.000 pfam_Synapsin_ATP-bd_dom,pfam_ATP-grasp_RimK-type pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_dom,prints_Synapsin - no_errors SYN1 HGNC ENSG00000008056 82 0 0 13 28 68.2927 RBMY2EP 0 genome.wustl.edu 37 Y 23562837 23562837 + RNA SNP T T G TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da Y 23562837 23562837 T G SNP RBMY2EP ENST00000444169 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RBMY2EP HGNC ENSG00000223637 48 0 0 13 17 56.6667 EXOC8 0 genome.wustl.edu 37 1 231472437 231472438 + Frame_Shift_Del DEL TC TC - TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 1 231472437 231472438 TC - DEL EXOC8 ENST00000360394 human ensembl 74_37 -1 known frame_shift_del c.1055_1054 p.D352fs 1.000:1.000 superfamily_Cullin_repeat-like_dom superfamily_Cullin_repeat-like_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors EXOC8 HGNC ENSG00000116903 128 0 0 78 28 26.4151 ALG6 0 genome.wustl.edu 37 1 63836751 63836751 + Frame_Shift_Del DEL A A - TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 1 63836751 63836751 A - DEL ALG6 ENST00000487136 human ensembl 74_37 +1 known frame_shift_del c.103 p.T38fs 0.000 NULL NULL - no_errors ALG6 HGNC ENSG00000088035 49 0 0 35 18 33.9623 ENSG00000258428 0 genome.wustl.edu 37 14 57099977 57099977 + RNA DEL T T - TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 14 57099977 57099977 T - DEL ENSG00000258428 ENST00000553800 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-1085N6.2 Clone_based_vega_gene ENSG00000258428 22 0 0 20 3 13.0435 NF1 0 genome.wustl.edu 37 17 29508492 29508493 + Frame_Shift_Del DEL AA AA - TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 17 29508492 29508493 AA - DEL NF1 ENST00000358273 human ensembl 74_37 +1 known frame_shift_del c.639_640 p.N214fs 1.000:1.000 NULL pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 69 0 0 21 15 41.6667 RNF43 0 genome.wustl.edu 37 17 56448297 56448298 + Frame_Shift_Ins INS - - G TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 17 56448297 56448298 - G INS RNF43 ENST00000407977 human ensembl 74_37 -1 known frame_shift_ins c.350_349 p.R117fs 1.000:1.000 superfamily_PAS pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 141 0 0 30 12 28.5714 LONP1 0 genome.wustl.edu 37 19 5692169 5692171 + In_Frame_Del DEL CTT CTT - TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 19 5692169 5692171 CTT - DEL LONP1 ENST00000360614 human ensembl 74_37 -1 known in_frame_del c.2754_2752 p.K918in_frame_del 1.000:1.000:1.000 pfam_Pept_S16_C,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_Lon_bac/euk-typ pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Prk_AAA_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ - no_errors LONP1 HGNC ENSG00000196365 320 0 0 110 31 21.9858 PCDHA9 0 genome.wustl.edu 37 5 140230509 140230509 + Frame_Shift_Del DEL T T - TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 5 140230509 140230509 T - DEL PCDHA9 ENST00000378122 human ensembl 74_37 +1 known frame_shift_del c.2429 p.L813fs 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 151 0 0 62 25 28.7356 ZNF733P 0 genome.wustl.edu 37 7 62752415 62752416 + RNA INS - - C TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da 7 62752415 62752416 - C INS ZNF733P ENST00000331425 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors ZNF733P HGNC ENSG00000185037 25 0 0 7 7 50 MAP7D3 0 genome.wustl.edu 37 X 135313186 135313186 + RNA DEL T T - TCGA-BR-A44U-01A-11D-A24D-08 TCGA-BR-A44U-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65ea2772-2b1c-4f32-9d08-de3133164565 bbdeaf3b-83c8-4f4e-a85e-d412a39556da X 135313186 135313186 T - DEL MAP7D3 ENST00000477124 human ensembl 74_37 -1 putative rna NULL NULL 0.018 - - - no_errors MAP7D3 HGNC ENSG00000129680 16 0 0 36 5 12.1951