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 LRIF1 0 genome.wustl.edu 37 1 111494883 111494883 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 1 111494883 111494883 T G SNP LRIF1 ENST00000369763 human ensembl 74_37 -1 known missense c.623 p.K208T 1.000 NULL NULL - no_errors LRIF1 HGNC ENSG00000121931 80 0 0 49 4 7.54717 ATAD3B 0 genome.wustl.edu 37 1 1423270 1423270 + Silent SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 1 1423270 1423270 C T SNP ATAD3B ENST00000308647 human ensembl 74_37 +1 known silent c.1242 p.D414 0.932 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_DUF3523,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD3B HGNC ENSG00000160072 132 0 0 75 13 14.7727 RPRD2 0 genome.wustl.edu 37 1 150429979 150429979 + Silent SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 1 150429979 150429979 G A SNP RPRD2 ENST00000369068 human ensembl 74_37 +1 known silent c.1086 p.V362 0.055 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_CID_dom - no_errors RPRD2 HGNC ENSG00000163125 251 0 0 185 12 6.09137 FLG 0 genome.wustl.edu 37 1 152278830 152278830 + Missense_Mutation SNP C C A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 1 152278830 152278830 C A SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.8532 p.E2844D 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 758 0 0 188 41 17.9039 FLG 0 genome.wustl.edu 37 1 152278833 152278833 + Silent SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 1 152278833 152278833 A G SNP FLG ENST00000368799 human ensembl 74_37 -1 known silent c.8529 p.N2843 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 731 0 0 188 26 12.1495 FLG 0 genome.wustl.edu 37 1 152279743 152279743 + Missense_Mutation SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 1 152279743 152279743 C T SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.7619 p.R2540Q 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 427 0 0 127 21 14.1892 FLG 0 genome.wustl.edu 37 1 152279747 152279747 + Missense_Mutation SNP A A T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 1 152279747 152279747 A T SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.7615 p.S2539T 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 449 0 0 135 53 28.1915 IFI16 0 genome.wustl.edu 37 1 159023326 159023326 + Missense_Mutation SNP A A C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 1 159023326 159023326 A C SNP IFI16 ENST00000295809 human ensembl 74_37 +1 known missense c.2089 p.N697H 0.031 pfam_HIN200/IF120x,pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC ENSG00000163565 84 0 0 29 46 61.3333 SLAMF1 0 genome.wustl.edu 37 1 160582344 160582344 + Missense_Mutation SNP G G T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 1 160582344 160582344 G T SNP SLAMF1 ENST00000302035 human ensembl 74_37 -1 known missense c.891 p.F297L 0.000 NULL pfam_Sig_lymph_act_molc_N,pfscan_Ig-like_dom - no_errors SLAMF1 HGNC ENSG00000117090 35 0 0 24 5 17.2414 TNR 0 genome.wustl.edu 37 1 175355276 175355276 + Missense_Mutation SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 1 175355276 175355276 T C SNP TNR ENST00000263525 human ensembl 74_37 -1 known missense c.1669 p.S557G 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 91 0 0 62 25 28.7356 NAV1 0 genome.wustl.edu 37 1 201687644 201687644 + Silent SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 1 201687644 201687644 C T SNP NAV1 ENST00000367296 human ensembl 74_37 +1 known silent c.987 p.D329 0.661 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 46 0 0 22 22 50 KIF17 0 genome.wustl.edu 37 1 20996955 20996955 + Missense_Mutation SNP C C A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 1 20996955 20996955 C A SNP KIF17 ENST00000247986 human ensembl 74_37 -1 known missense c.2752 p.A918S 0.014 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF17 HGNC ENSG00000117245 82 0 0 56 6 9.67742 MYOM3 0 genome.wustl.edu 37 1 24417475 24417475 + Missense_Mutation SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 1 24417475 24417475 T C SNP MYOM3 ENST00000330966 human ensembl 74_37 -1 known missense c.1247 p.E416G 0.512 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM3 HGNC ENSG00000142661 89 0 0 47 10 17.5439 OR2M5 0 genome.wustl.edu 37 1 248309375 248309375 + Missense_Mutation SNP A A T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 1 248309375 248309375 A T SNP OR2M5 ENST00000366476 human ensembl 74_37 +1 known missense c.926 p.K309M 0.001 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M5 HGNC ENSG00000162727 83 0 0 24 36 60 ARID1A 0 genome.wustl.edu 37 1 27106124 27106124 + Missense_Mutation SNP A A C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 1 27106124 27106124 A C SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known missense c.5735 p.D1912A 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 137 0 0 55 43 43.8776 MOB3C 0 genome.wustl.edu 37 1 47079042 47079042 + Missense_Mutation SNP C C A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 1 47079042 47079042 C A SNP MOB3C ENST00000271139 human ensembl 74_37 -1 known missense c.108 p.W36C 0.001 NULL pfam_Mob1_phocein,superfamily_Mob1_phocein - no_errors MOB3C HGNC ENSG00000142961 88 0 0 38 22 36.6667 CYP2J2 0 genome.wustl.edu 37 1 60359208 60359208 + RNA SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 1 60359208 60359208 G A SNP CYP2J2 ENST00000466095 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CYP2J2 HGNC ENSG00000134716 158 0 0 111 22 16.5414 CHD5 0 genome.wustl.edu 37 1 6169960 6169960 + Missense_Mutation SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 1 6169960 6169960 G A SNP CHD5 ENST00000262450 human ensembl 74_37 -1 known missense c.5473 p.L1825F 1.000 pfam_CHD_C2 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 78 0 0 68 6 8.10811 KANK4 0 genome.wustl.edu 37 1 62739395 62739395 + Missense_Mutation SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 1 62739395 62739395 G A SNP KANK4 ENST00000371153 human ensembl 74_37 -1 known missense c.1381 p.H461Y 0.000 NULL pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK4 HGNC ENSG00000132854 210 0 0 129 52 28.7293 SLC35D1 0 genome.wustl.edu 37 1 67486081 67486081 + Missense_Mutation SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 1 67486081 67486081 G A SNP SLC35D1 ENST00000235345 human ensembl 74_37 -1 known missense c.847 p.L283F 1.000 pfam_Tpt_PEP_trans_dom pfam_Tpt_PEP_trans_dom - no_errors SLC35D1 HGNC ENSG00000116704 89 0 0 80 8 9.09091 C1orf173 0 genome.wustl.edu 37 1 75036970 75036970 + Missense_Mutation SNP C C A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 1 75036970 75036970 C A SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known missense c.4424 p.R1475L 0.000 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 180 0 0 137 11 7.43243 PER3 0 genome.wustl.edu 37 1 7887798 7887798 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 1 7887798 7887798 T G SNP PER3 ENST00000361923 human ensembl 74_37 +1 known missense c.2785 p.L929V 0.001 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER3 HGNC ENSG00000049246 107 0 0 70 14 16.6667 CLCA3P 0 genome.wustl.edu 37 1 87101306 87101306 + RNA SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 1 87101306 87101306 T G SNP CLCA3P ENST00000284054 human ensembl 74_37 +1 known rna NULL NULL 0.948 - - - no_errors CLCA3P HGNC ENSG00000153923 62 0 0 54 4 6.89655 CTBP2 0 genome.wustl.edu 37 10 126715032 126715032 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 10 126715032 126715032 A G SNP CTBP2 ENST00000309035 human ensembl 74_37 -1 known missense c.1297 p.F433L 0.000 NULL pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom - no_errors CTBP2 HGNC ENSG00000175029 30 0 0 12 6 33.3333 TUBGCP2 0 genome.wustl.edu 37 10 135099058 135099058 + Silent SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 10 135099058 135099058 C T SNP TUBGCP2 ENST00000543663 human ensembl 74_37 -1 known silent c.1881 p.A627 0.197 pfam_TUBGCP pfam_TUBGCP,superfamily_Ocr - no_errors TUBGCP2 HGNC ENSG00000130640 24 0 0 12 4 25 KIAA1217 0 genome.wustl.edu 37 10 24784102 24784102 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 10 24784102 24784102 A G SNP KIAA1217 ENST00000376454 human ensembl 74_37 +1 known missense c.1811 p.N604S 0.976 pfam_AIP3_C pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 82 0 0 42 28 40 MYO3A 0 genome.wustl.edu 37 10 26482150 26482150 + Missense_Mutation SNP G G T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 10 26482150 26482150 G T SNP MYO3A ENST00000265944 human ensembl 74_37 +1 known missense c.4455 p.E1485D 0.964 NULL pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 69 0 0 36 10 21.7391 ENSG00000233515 0 genome.wustl.edu 37 10 43178893 43178893 + RNA SNP A A C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 10 43178893 43178893 A C SNP ENSG00000233515 ENST00000411439 human ensembl 74_37 -1 known rna NULL NULL 0.065 - - - no_errors AL022344.4 Clone_based_vega_gene ENSG00000233515 8 0 0 4 3 42.8571 PCDH15 0 genome.wustl.edu 37 10 55912869 55912869 + Missense_Mutation SNP G G T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 10 55912869 55912869 G T SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.1775 p.A592E 0.942 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 66 0 0 51 10 16.3934 FAM208B 0 genome.wustl.edu 37 10 5784428 5784428 + Missense_Mutation SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 10 5784428 5784428 C T SNP FAM208B ENST00000328090 human ensembl 74_37 +1 known missense c.2696 p.A899V 0.001 pfam_DUF3715 pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 83 0 0 71 6 7.79221 JMJD1C 0 genome.wustl.edu 37 10 64958329 64958329 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 10 64958329 64958329 T G SNP JMJD1C ENST00000399262 human ensembl 74_37 -1 known missense c.5435 p.K1812T 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 118 0 0 66 61 48.0315 GATA3 0 genome.wustl.edu 37 10 8115913 8115913 + Missense_Mutation SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 10 8115913 8115913 C T SNP GATA3 ENST00000379328 human ensembl 74_37 +1 known missense c.1262 p.T421M 1.000 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 123 0 0 93 16 14.6789 NOC3L 0 genome.wustl.edu 37 10 96104172 96104172 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 10 96104172 96104172 T G SNP NOC3L ENST00000371350 human ensembl 74_37 -1 known missense c.1571 p.K524T 1.000 superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3 pfam_CCAAT-binding_factor,pfam_NOC3p,superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3 - no_errors NOC3L HGNC ENSG00000173145 64 0 0 31 16 34.0426 C10orf12 0 genome.wustl.edu 37 10 98744030 98744030 + Silent SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 10 98744030 98744030 A G SNP C10orf12 ENST00000286067 human ensembl 74_37 +1 known silent c.2883 p.E961 0.737 NULL NULL - no_errors C10orf12 HGNC ENSG00000155640 151 0 0 61 66 51.9685 ARHGAP19-SLIT1 0 genome.wustl.edu 37 10 99003882 99003882 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 10 99003882 99003882 T G SNP ARHGAP19-SLIT1 ENST00000453547 human ensembl 74_37 -1 known missense c.1028 p.K343T 0.859 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP19-SLIT1 HGNC ENSG00000269891 84 0 0 56 19 25.3333 DYNC2H1 0 genome.wustl.edu 37 11 102984412 102984412 + Missense_Mutation SNP A A C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 11 102984412 102984412 A C SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.342 p.Q114H 0.990 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 52 0 0 30 6 16.6667 CTR9 0 genome.wustl.edu 37 11 10776559 10776559 + Missense_Mutation SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 11 10776559 10776559 G A SNP CTR9 ENST00000361367 human ensembl 74_37 +1 known missense c.199 p.A67T 1.000 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CTR9 HGNC ENSG00000198730 103 0 0 85 5 5.55556 OR10S1 0 genome.wustl.edu 37 11 123848218 123848218 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 11 123848218 123848218 T G SNP OR10S1 ENST00000531945 human ensembl 74_37 -1 known missense c.181 p.T61P 0.009 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10S1 HGNC ENSG00000196248 42 0 0 34 8 19.0476 ADAMTS15 0 genome.wustl.edu 37 11 130341245 130341245 + Missense_Mutation SNP G G T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 11 130341245 130341245 G T SNP ADAMTS15 ENST00000299164 human ensembl 74_37 +1 known missense c.2045 p.C682F 1.000 prints_Peptidase_M12B_ADAM-TS pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS,prints_Pept_M12B_ADAM-TS8 - no_errors ADAMTS15 HGNC ENSG00000166106 78 0 0 24 14 36.8421 MPPED2 0 genome.wustl.edu 37 11 30557717 30557717 + Missense_Mutation SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 11 30557717 30557717 T C SNP MPPED2 ENST00000358117 human ensembl 74_37 -1 known missense c.134 p.D45G 1.000 NULL pfam_PEstase_dom - no_errors MPPED2 HGNC ENSG00000066382 51 0 0 18 5 21.7391 LDLRAD3 0 genome.wustl.edu 37 11 36250770 36250770 + Silent SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 11 36250770 36250770 A G SNP LDLRAD3 ENST00000315571 human ensembl 74_37 +1 known silent c.861 p.Q287 0.981 NULL pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LDLRAD3 HGNC ENSG00000179241 267 0 0 191 17 8.17308 RAG1 0 genome.wustl.edu 37 11 36595301 36595301 + Silent SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 11 36595301 36595301 T G SNP RAG1 ENST00000299440 human ensembl 74_37 +1 known silent c.447 p.T149 0.640 NULL pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING - no_errors RAG1 HGNC ENSG00000166349 73 0 0 47 17 26.5625 LOC440040 0 genome.wustl.edu 37 11 49831598 49831598 + RNA SNP G G T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 11 49831598 49831598 G T SNP LOC440040 ENST00000527477 human ensembl 74_37 +1 known rna NULL NULL 0.183 - - - no_errors RP11-707M1.1 Clone_based_vega_gene ENSG00000205035 72 0 0 52 13 20 OR4A5 0 genome.wustl.edu 37 11 51412308 51412308 + Missense_Mutation SNP A A C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 11 51412308 51412308 A C SNP OR4A5 ENST00000319760 human ensembl 74_37 -1 known missense c.88 p.L30V 0.057 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A5 HGNC ENSG00000221840 38 0 0 34 12 26.087 OR4S2 0 genome.wustl.edu 37 11 55419250 55419250 + Nonsense_Mutation SNP G G T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 11 55419250 55419250 G T SNP OR4S2 ENST00000312422 human ensembl 74_37 +1 known nonsense c.871 p.E291* 0.995 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4S2 HGNC ENSG00000174982 132 0 0 57 40 41.2371 OR5D16 0 genome.wustl.edu 37 11 55606243 55606243 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 11 55606243 55606243 A G SNP OR5D16 ENST00000378396 human ensembl 74_37 +1 known missense c.16 p.R6G 0.142 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D16 HGNC ENSG00000205029 102 0 0 46 39 45.8824 OR8J3 0 genome.wustl.edu 37 11 55905083 55905083 + Missense_Mutation SNP T T A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 11 55905083 55905083 T A SNP OR8J3 ENST00000301529 human ensembl 74_37 -1 known missense c.112 p.T38S 0.105 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8J3 HGNC ENSG00000167822 153 0 0 61 55 47.4138 OR5B3 0 genome.wustl.edu 37 11 58170447 58170447 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 11 58170447 58170447 A G SNP OR5B3 ENST00000309403 human ensembl 74_37 -1 known missense c.436 p.S146P 0.006 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5B3 HGNC ENSG00000172769 123 0 0 75 22 22.6804 BAD 0 genome.wustl.edu 37 11 64037689 64037689 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 11 64037689 64037689 A G SNP BAD ENST00000309032 human ensembl 74_37 -1 known missense c.499 p.S167P 0.994 pfam_Bcl-2_BAD pfam_Bcl-2_BAD - no_errors BAD HGNC ENSG00000002330 47 0 0 31 8 20.5128 CCDC88B 0 genome.wustl.edu 37 11 64112239 64112239 + Silent SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 11 64112239 64112239 G A SNP CCDC88B ENST00000356786 human ensembl 74_37 +1 known silent c.2226 p.E742 0.000 NULL pfam_Hook-related_fam - no_errors CCDC88B HGNC ENSG00000168071 65 0 0 33 4 10.8108 OR2D2 0 genome.wustl.edu 37 11 6912920 6912920 + Missense_Mutation SNP G G C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 11 6912920 6912920 G C SNP OR2D2 ENST00000299459 human ensembl 74_37 -1 known missense c.812 p.S271W 0.034 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt - no_errors OR2D2 HGNC ENSG00000166368 57 0 0 25 32 56.1404 MED17 0 genome.wustl.edu 37 11 93542936 93542936 + Missense_Mutation SNP G G T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 11 93542936 93542936 G T SNP MED17 ENST00000251871 human ensembl 74_37 +1 known missense c.1638 p.W546C 1.000 NULL pfam_Mediator_Med17 - no_errors MED17 HGNC ENSG00000042429 169 0 0 67 42 38.5321 CNTN5 0 genome.wustl.edu 37 11 99944940 99944940 + Missense_Mutation SNP A A C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 11 99944940 99944940 A C SNP CNTN5 ENST00000279463 human ensembl 74_37 +1 known missense c.1494 p.E498D 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN5 HGNC ENSG00000149972 22 0 0 11 6 35.2941 LRP6 0 genome.wustl.edu 37 12 12334066 12334066 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 12 12334066 12334066 T G SNP LRP6 ENST00000261349 human ensembl 74_37 -1 known missense c.1284 p.E428D 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP6 HGNC ENSG00000070018 84 0 0 47 32 40.5063 KRAS 0 genome.wustl.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 12 25398285 25398285 C T SNP KRAS ENST00000256078 human ensembl 74_37 -1 known missense c.34 p.G12S 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors KRAS HGNC ENSG00000133703 18 0 0 11 7 38.8889 SYT10 0 genome.wustl.edu 37 12 33559774 33559774 + Missense_Mutation SNP C C G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 12 33559774 33559774 C G SNP SYT10 ENST00000228567 human ensembl 74_37 -1 known missense c.1027 p.D343H 1.000 smart_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT10 HGNC ENSG00000110975 75 0 0 64 9 12.3288 NDUFA9 0 genome.wustl.edu 37 12 4796211 4796211 + Silent SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 12 4796211 4796211 C T SNP NDUFA9 ENST00000266544 human ensembl 74_37 +1 known silent c.1071 p.R357 0.876 NULL pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_NmrA - no_errors NDUFA9 HGNC ENSG00000139180 45 0 0 53 11 17.1875 AQP5 0 genome.wustl.edu 37 12 50358929 50358929 + Missense_Mutation SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 12 50358929 50358929 G A SNP AQP5 ENST00000293599 human ensembl 74_37 +1 known missense c.767 p.R256Q 1.000 prints_Aquaporin_5 pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_5,tigrfam_MIP - no_errors AQP5 HGNC ENSG00000161798 29 0 0 29 3 9.375 CDK2 0 genome.wustl.edu 37 12 56364997 56364997 + Missense_Mutation SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 12 56364997 56364997 C T SNP CDK2 ENST00000266970 human ensembl 74_37 +1 known missense c.758 p.P253L 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK2 HGNC ENSG00000123374 255 0 0 600 46 7.12074 LRP1 0 genome.wustl.edu 37 12 57578891 57578891 + Silent SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 12 57578891 57578891 C T SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known silent c.6366 p.R2122 0.278 smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 110 0 0 157 9 5.42169 METTL21B 0 genome.wustl.edu 37 12 58174298 58174298 + Missense_Mutation SNP A A C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 12 58174298 58174298 A C SNP METTL21B ENST00000300209 human ensembl 74_37 +1 known missense c.550 p.K184Q 0.992 pfam_Nicotinamide_N-MeTfrase-like pfam_Nicotinamide_N-MeTfrase-like - no_errors METTL21B HGNC ENSG00000123427 51 0 0 76 5 6.17284 XPOT 0 genome.wustl.edu 37 12 64814012 64814012 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 12 64814012 64814012 T G SNP XPOT ENST00000332707 human ensembl 74_37 +1 known missense c.652 p.L218V 1.000 pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPOT HGNC ENSG00000184575 99 0 0 124 20 13.8889 NUP107 0 genome.wustl.edu 37 12 69127260 69127260 + Missense_Mutation SNP A A C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 12 69127260 69127260 A C SNP NUP107 ENST00000229179 human ensembl 74_37 +1 known missense c.2130 p.E710D 0.987 pfam_Nup84_Nup100 pfam_Nup84_Nup100 - no_errors NUP107 HGNC ENSG00000111581 78 0 0 366 25 6.39386 ACSS3 0 genome.wustl.edu 37 12 81472095 81472095 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 12 81472095 81472095 T G SNP ACSS3 ENST00000548058 human ensembl 74_37 +1 known missense c.196 p.F66V 0.999 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSS3 HGNC ENSG00000111058 61 0 0 34 8 19.0476 TMCC3 0 genome.wustl.edu 37 12 94972170 94972170 + Silent SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 12 94972170 94972170 C T SNP TMCC3 ENST00000261226 human ensembl 74_37 -1 known silent c.1131 p.Q377 1.000 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2 - no_errors TMCC3 HGNC ENSG00000057704 90 0 0 61 4 6.15385 ENSG00000243008 0 genome.wustl.edu 37 13 25155861 25155861 + Splice_Site SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 13 25155861 25155861 G A SNP ENSG00000243008 ENST00000453498 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.871 - - - no_errors RP11-556N21.1 Clone_based_vega_gene ENSG00000243008 48 0 0 31 7 18.4211 NBEA 0 genome.wustl.edu 37 13 36125129 36125129 + Missense_Mutation SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 13 36125129 36125129 C T SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.6766 p.R2256W 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 45 0 0 39 6 13.3333 SPG20 0 genome.wustl.edu 37 13 36888425 36888425 + Silent SNP G G T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 13 36888425 36888425 G T SNP SPG20 ENST00000355182 human ensembl 74_37 -1 known silent c.1422 p.T474 1.000 pfam_Senescence/spartin pfam_Senescence/spartin,pfam_MIT,smart_MIT - no_errors SPG20 HGNC ENSG00000133104 122 0 0 90 26 22.4138 AHNAK2 0 genome.wustl.edu 37 14 105412260 105412260 + Missense_Mutation SNP G G C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 14 105412260 105412260 G C SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.9528 p.D3176E 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 16 0 0 4 6 60 AHNAK2 0 genome.wustl.edu 37 14 105415659 105415659 + Silent SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 14 105415659 105415659 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.6129 p.A2043 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 42 0 0 39 5 11.3636 OR4L1 0 genome.wustl.edu 37 14 20529098 20529098 + Silent SNP A A C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 14 20529098 20529098 A C SNP OR4L1 ENST00000315683 human ensembl 74_37 +1 known silent c.895 p.R299 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR4L1 HGNC ENSG00000176246 82 0 0 61 4 6.15385 OSGEP 0 genome.wustl.edu 37 14 20920250 20920250 + Silent SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 14 20920250 20920250 T C SNP OSGEP ENST00000206542 human ensembl 74_37 -1 known silent c.294 p.Q98 0.969 pfam_Gcp-like_dom,prints_KAE1/YgjD,tigrfam_KAE1/YgjD pfam_Gcp-like_dom,prints_KAE1/YgjD,tigrfam_KAE1/YgjD - no_errors OSGEP HGNC ENSG00000092094 49 0 0 41 5 10.8696 SALL2 0 genome.wustl.edu 37 14 21991766 21991766 + Missense_Mutation SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 14 21991766 21991766 T C SNP SALL2 ENST00000327430 human ensembl 74_37 -1 known missense c.2096 p.K699R 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL2 HGNC ENSG00000165821 86 0 0 42 29 40.8451 HECTD1 0 genome.wustl.edu 37 14 31637631 31637631 + Missense_Mutation SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 14 31637631 31637631 C T SNP HECTD1 ENST00000399332 human ensembl 74_37 -1 known missense c.1495 p.D499N 1.000 superfamily_ARM-type_fold pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT - no_errors HECTD1 HGNC ENSG00000092148 132 0 0 114 20 14.9254 FAM179B 0 genome.wustl.edu 37 14 45432035 45432035 + Silent SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 14 45432035 45432035 T C SNP FAM179B ENST00000361577 human ensembl 74_37 +1 known silent c.411 p.Y137 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FAM179B HGNC ENSG00000198718 161 0 0 119 23 16.1972 PRKCH 0 genome.wustl.edu 37 14 61995851 61995851 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 14 61995851 61995851 T G SNP PRKCH ENST00000332981 human ensembl 74_37 +1 known missense c.1492 p.F498V 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Prot_kin_PKC_delta,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKCH HGNC ENSG00000027075 82 0 0 60 7 10.4478 MAP3K9 0 genome.wustl.edu 37 14 71209259 71209259 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 14 71209259 71209259 T G SNP MAP3K9 ENST00000555993 human ensembl 74_37 -1 known missense c.1376 p.K459T 1.000 pirsf_MAPKKK9/10/11,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K9 HGNC ENSG00000006432 54 0 0 30 3 9.09091 NUTM1 0 genome.wustl.edu 37 15 34648354 34648354 + Silent SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 15 34648354 34648354 C T SNP NUTM1 ENST00000333756 human ensembl 74_37 +1 known silent c.2061 p.A687 0.000 NULL NULL - no_errors NUTM1 HGNC ENSG00000184507 45 0 0 33 19 36.5385 DNAJC17 0 genome.wustl.edu 37 15 41066576 41066576 + Missense_Mutation SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 15 41066576 41066576 T C SNP DNAJC17 ENST00000220496 human ensembl 74_37 -1 known missense c.659 p.E220G 1.000 pfam_RRM_dom pfam_DnaJ_domain,pfam_RRM_dom,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC17 HGNC ENSG00000104129 220 0 0 152 38 20 UBR1 0 genome.wustl.edu 37 15 43308000 43308000 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 15 43308000 43308000 T G SNP UBR1 ENST00000290650 human ensembl 74_37 -1 known missense c.3095 p.K1032T 1.000 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR1 HGNC ENSG00000159459 116 0 0 113 6 5.04202 SLC24A5 0 genome.wustl.edu 37 15 48434341 48434341 + Missense_Mutation SNP A A C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 15 48434341 48434341 A C SNP SLC24A5 ENST00000341459 human ensembl 74_37 +1 known missense c.1296 p.E432D 0.993 pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A5 HGNC ENSG00000188467 120 0 0 63 71 52.9851 MYEF2 0 genome.wustl.edu 37 15 48435202 48435202 + Missense_Mutation SNP A A C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 15 48435202 48435202 A C SNP MYEF2 ENST00000324324 human ensembl 74_37 -1 known missense c.1706 p.F569C 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MYEF2 HGNC ENSG00000104177 81 0 0 56 17 23.2877 SNAPC5 0 genome.wustl.edu 37 15 66787656 66787656 + Silent SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 15 66787656 66787656 G A SNP SNAPC5 ENST00000568875 human ensembl 74_37 -1 known silent c.192 p.I64 0.000 NULL NULL - no_errors SNAPC5 HGNC ENSG00000174446 63 0 0 61 8 11.5942 MYO9A 0 genome.wustl.edu 37 15 72244202 72244202 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 15 72244202 72244202 T G SNP MYO9A ENST00000424560 human ensembl 74_37 -1 known missense c.2218 p.S740R 1.000 superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9A HGNC ENSG00000066933 149 0 0 107 26 19.5489 PDILT 0 genome.wustl.edu 37 16 20371934 20371934 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 16 20371934 20371934 A G SNP PDILT ENST00000302451 human ensembl 74_37 -1 known missense c.1462 p.F488L 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors PDILT HGNC ENSG00000169340 205 0 0 119 45 27.439 ACSM2B 0 genome.wustl.edu 37 16 20566689 20566689 + Silent SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 16 20566689 20566689 T C SNP ACSM2B ENST00000329697 human ensembl 74_37 -1 known silent c.498 p.E166 0.133 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM2B HGNC ENSG00000066813 233 0 0 168 50 22.9358 ACSM1 0 genome.wustl.edu 37 16 20702409 20702409 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 16 20702409 20702409 T G SNP ACSM1 ENST00000307493 human ensembl 74_37 -1 known missense c.102 p.E34D 0.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSM1 HGNC ENSG00000166743 191 0 0 128 57 30.8108 PKD1 0 genome.wustl.edu 37 16 2140438 2140438 + Missense_Mutation SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 16 2140438 2140438 C T SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known missense c.12292 p.A4098T 0.743 pfam_PKD1_2_channel,prints_PKD_1 pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 48 0 0 21 5 19.2308 ENSG00000259966 0 genome.wustl.edu 37 16 32616275 32616275 + RNA SNP C C G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 16 32616275 32616275 C G SNP ENSG00000259966 ENST00000562976 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-652G5.1 Clone_based_vega_gene ENSG00000259966 26 0 0 25 3 10.7143 HEATR3 0 genome.wustl.edu 37 16 50106621 50106621 + Silent SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 16 50106621 50106621 A G SNP HEATR3 ENST00000299192 human ensembl 74_37 +1 known silent c.618 p.S206 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR3 HGNC ENSG00000155393 33 0 0 36 6 14.2857 CHD9 0 genome.wustl.edu 37 16 53243432 53243432 + Silent SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 16 53243432 53243432 T C SNP CHD9 ENST00000398510 human ensembl 74_37 +1 known silent c.1491 p.Y497 0.910 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC ENSG00000177200 43 0 0 18 7 28 PLA2G15 0 genome.wustl.edu 37 16 68289889 68289889 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 16 68289889 68289889 T G SNP PLA2G15 ENST00000566188 human ensembl 74_37 +1 novel missense c.598 p.F200V 0.792 NULL pfam_LACT/PDAT_acylTrfase - no_errors PLA2G15 HGNC ENSG00000103066 23 0 0 5 5 50 HYDIN 0 genome.wustl.edu 37 16 70917971 70917971 + Silent SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 16 70917971 70917971 G A SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative silent c.9831 p.S3277 0.236 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 23 0 0 10 4 28.5714 SUPT6H 0 genome.wustl.edu 37 17 27010097 27010097 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 17 27010097 27010097 A G SNP SUPT6H ENST00000314616 human ensembl 74_37 +1 known missense c.1865 p.K622R 1.000 pirsf_TF_Spt6 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 26 0 0 30 3 9.09091 SUPT6H 0 genome.wustl.edu 37 17 27014227 27014227 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 17 27014227 27014227 A G SNP SUPT6H ENST00000314616 human ensembl 74_37 +1 known missense c.2822 p.K941R 1.000 pirsf_TF_Spt6 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 137 0 0 128 53 29.2818 PHF12 0 genome.wustl.edu 37 17 27240011 27240011 + Silent SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 17 27240011 27240011 C T SNP PHF12 ENST00000332830 human ensembl 74_37 -1 known silent c.1578 p.A526 0.992 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 120 0 0 109 22 16.7939 SSH2 0 genome.wustl.edu 37 17 27963194 27963194 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 17 27963194 27963194 T G SNP SSH2 ENST00000269033 human ensembl 74_37 -1 known missense c.1973 p.K658T 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC ENSG00000141298 130 0 0 54 64 54.2373 TRPV3 0 genome.wustl.edu 37 17 3422077 3422077 + Silent SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 17 3422077 3422077 G A SNP TRPV3 ENST00000301365 human ensembl 74_37 -1 known silent c.1878 p.S626 0.007 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel - no_errors TRPV3 HGNC ENSG00000167723 53 0 0 29 4 12.1212 TRPV3 0 genome.wustl.edu 37 17 3447882 3447882 + Missense_Mutation SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 17 3447882 3447882 T C SNP TRPV3 ENST00000301365 human ensembl 74_37 -1 known missense c.302 p.N101S 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel - no_errors TRPV3 HGNC ENSG00000167723 15 0 0 12 10 45.4545 KIF2B 0 genome.wustl.edu 37 17 51900831 51900831 + Missense_Mutation SNP A A T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 17 51900831 51900831 A T SNP KIF2B ENST00000268919 human ensembl 74_37 +1 known missense c.437 p.K146M 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2B HGNC ENSG00000141200 121 0 0 78 7 8.23529 BZRAP1 0 genome.wustl.edu 37 17 56403052 56403052 + Missense_Mutation SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 17 56403052 56403052 G A SNP BZRAP1 ENST00000355701 human ensembl 74_37 -1 known missense c.593 p.P198L 0.002 NULL pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain - no_errors BZRAP1 HGNC ENSG00000005379 64 0 0 41 3 6.81818 CSH1 0 genome.wustl.edu 37 17 61972437 61972437 + Missense_Mutation SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 17 61972437 61972437 T C SNP CSH1 ENST00000316193 human ensembl 74_37 -1 known missense c.599 p.E200G 0.998 pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors CSH1 HGNC ENSG00000136488 136 0 0 103 17 14.1667 HELZ 0 genome.wustl.edu 37 17 65157118 65157118 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 17 65157118 65157118 A G SNP HELZ ENST00000358691 human ensembl 74_37 -1 known missense c.1970 p.L657P 1.000 superfamily_P-loop_NTPase pfam_Znf_CCCH,superfamily_P-loop_NTPase,smart_Znf_CCCH - no_errors HELZ HGNC ENSG00000198265 62 0 0 43 5 10.4167 TMC8 0 genome.wustl.edu 37 17 76134465 76134465 + Silent SNP G G T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 17 76134465 76134465 G T SNP TMC8 ENST00000318430 human ensembl 74_37 +1 known silent c.1569 p.R523 0.009 pfam_TMC pfam_TMC - no_errors TMC8 HGNC ENSG00000167895 114 0 0 91 15 14.1509 RNF213 0 genome.wustl.edu 37 17 78357495 78357495 + Missense_Mutation SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 17 78357495 78357495 C T SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.14089 p.P4697S 0.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 90 0 0 74 11 12.9412 PIK3R6 0 genome.wustl.edu 37 17 8731507 8731507 + Silent SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 17 8731507 8731507 C T SNP PIK3R6 ENST00000311434 human ensembl 74_37 -1 known silent c.1314 p.R438 1.000 pfam_PI3K_1B_gamma_p101_su pfam_PI3K_1B_gamma_p101_su - no_errors PIK3R6 HGNC ENSG00000174083 76 0 0 15 34 69.3878 GAS7 0 genome.wustl.edu 37 17 9837496 9837496 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 17 9837496 9837496 T G SNP GAS7 ENST00000432992 human ensembl 74_37 -1 known missense c.872 p.K291T 1.000 pfam_FCH_dom,smart_FCH_dom pfam_FCH_dom,pfam_WW_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_WW_dom,smart_SH3_domain,smart_WW_dom,smart_FCH_dom,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_WW_dom - no_errors GAS7 HGNC ENSG00000007237 48 0 0 30 3 9.09091 CXADRP3 0 genome.wustl.edu 37 18 14479234 14479234 + RNA SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 18 14479234 14479234 G A SNP CXADRP3 ENST00000581457 human ensembl 74_37 -1 known rna NULL NULL 0.022 - - - no_errors CXADRP3 HGNC ENSG00000265766 31 0 0 13 10 43.4783 NWD1 0 genome.wustl.edu 37 19 16860249 16860249 + Missense_Mutation SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 19 16860249 16860249 G A SNP NWD1 ENST00000379808 human ensembl 74_37 +1 known missense c.796 p.G266S 0.980 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 43 0 0 33 15 31.25 ZNF569 0 genome.wustl.edu 37 19 37905139 37905139 + Silent SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 19 37905139 37905139 A G SNP ZNF569 ENST00000316950 human ensembl 74_37 -1 known silent c.421 p.L141 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF569 HGNC ENSG00000196437 61 0 0 38 17 30.9091 SPTBN4 0 genome.wustl.edu 37 19 41077980 41077980 + Missense_Mutation SNP G G T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 19 41077980 41077980 G T SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known missense c.7375 p.D2459Y 1.000 pirsf_Spectrin_bsu,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 362 0 0 147 72 32.8767 PSG6 0 genome.wustl.edu 37 19 43411761 43411761 + Missense_Mutation SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 19 43411761 43411761 T C SNP PSG6 ENST00000292125 human ensembl 74_37 -1 known missense c.952 p.I318V 0.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG6 HGNC ENSG00000170848 205 0 0 123 30 19.6078 IRGC 0 genome.wustl.edu 37 19 44223718 44223718 + Silent SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 19 44223718 44223718 C T SNP IRGC ENST00000244314 human ensembl 74_37 +1 known silent c.1008 p.N336 0.000 pfam_Interferon-induced_GTPase pfam_Interferon-induced_GTPase,superfamily_P-loop_NTPase - no_errors IRGC HGNC ENSG00000124449 50 0 0 23 5 17.8571 PRKD2 0 genome.wustl.edu 37 19 47197269 47197269 + Missense_Mutation SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 19 47197269 47197269 T C SNP PRKD2 ENST00000291281 human ensembl 74_37 -1 known missense c.1439 p.E480G 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD2 HGNC ENSG00000105287 68 0 0 43 5 10.4167 PRKD2 0 genome.wustl.edu 37 19 47207786 47207786 + Missense_Mutation SNP G G T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 19 47207786 47207786 G T SNP PRKD2 ENST00000291281 human ensembl 74_37 -1 known missense c.632 p.T211N 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD2 HGNC ENSG00000105287 54 0 0 30 12 28.5714 PPFIA3 0 genome.wustl.edu 37 19 49652922 49652922 + Missense_Mutation SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 19 49652922 49652922 C T SNP PPFIA3 ENST00000334186 human ensembl 74_37 +1 known missense c.3473 p.A1158V 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA3 HGNC ENSG00000177380 38 0 0 25 7 21.875 LILRB1 0 genome.wustl.edu 37 19 55144500 55144500 + Missense_Mutation SNP A A T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 19 55144500 55144500 A T SNP LILRB1 ENST00000324602 human ensembl 74_37 +1 known missense c.992 p.Q331L 0.000 smart_Ig_sub,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB1 HGNC ENSG00000104972 112 0 0 67 6 8.21918 ENSG00000215765 0 genome.wustl.edu 37 19 55301707 55301707 + RNA SNP T T A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 19 55301707 55301707 T A SNP ENSG00000215765 ENST00000400864 human ensembl 74_37 +1 known rna NULL NULL 0.234 - - - no_errors CTB-61M7.1 Clone_based_vega_gene ENSG00000215765 31 0 0 25 7 21.875 TNNI3 0 genome.wustl.edu 37 19 55665449 55665449 + Silent SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 19 55665449 55665449 G A SNP TNNI3 ENST00000344887 human ensembl 74_37 -1 known silent c.498 p.S166 1.000 pfam_Troponin pfam_Troponin,pfam_Troponin-I_N - no_errors TNNI3 HGNC ENSG00000129991 95 0 0 62 32 34.0426 NLRP4 0 genome.wustl.edu 37 19 56370116 56370116 + Missense_Mutation SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 19 56370116 56370116 G A SNP NLRP4 ENST00000301295 human ensembl 74_37 +1 known missense c.1357 p.V453M 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP4 HGNC ENSG00000160505 145 0 0 91 34 27.2 NLRP8 0 genome.wustl.edu 37 19 56467184 56467184 + Missense_Mutation SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 19 56467184 56467184 T C SNP NLRP8 ENST00000291971 human ensembl 74_37 +1 known missense c.1760 p.L587P 0.004 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP8 HGNC ENSG00000179709 71 0 0 22 16 42.1053 NLRP8 0 genome.wustl.edu 37 19 56467229 56467229 + Missense_Mutation SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 19 56467229 56467229 C T SNP NLRP8 ENST00000291971 human ensembl 74_37 +1 known missense c.1805 p.P602L 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP8 HGNC ENSG00000179709 72 0 0 37 12 24.4898 ZNF135 0 genome.wustl.edu 37 19 58578360 58578360 + Missense_Mutation SNP A A C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 19 58578360 58578360 A C SNP ZNF135 ENST00000401053 human ensembl 74_37 +1 known missense c.580 p.S194R 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF135 HGNC ENSG00000176293 64 0 0 44 4 8.33333 ZNF274 0 genome.wustl.edu 37 19 58724210 58724210 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 19 58724210 58724210 A G SNP ZNF274 ENST00000326804 human ensembl 74_37 +1 known missense c.1660 p.R554G 0.978 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Krueppel-associated_box,pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF274 HGNC ENSG00000171606 108 0 0 68 19 21.8391 KIF5C 0 genome.wustl.edu 37 2 149803436 149803436 + Missense_Mutation SNP A A C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 2 149803436 149803436 A C SNP KIF5C ENST00000435030 human ensembl 74_37 +1 known missense c.613 p.S205R 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom 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 36 0 0 7 15 68.1818 PLA2R1 0 genome.wustl.edu 37 2 160801450 160801450 + Missense_Mutation SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 2 160801450 160801450 C T SNP PLA2R1 ENST00000283243 human ensembl 74_37 -1 known missense c.4111 p.E1371K 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors PLA2R1 HGNC ENSG00000153246 132 0 0 47 49 51.0417 LRP2 0 genome.wustl.edu 37 2 170136035 170136035 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 2 170136035 170136035 T G SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.1412 p.N471T 1.000 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 90 0 0 29 41 58.5714 OSBPL6 0 genome.wustl.edu 37 2 179197734 179197734 + Missense_Mutation SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 2 179197734 179197734 C T SNP OSBPL6 ENST00000315022 human ensembl 74_37 +1 known missense c.560 p.S187L 1.000 NULL pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL6 HGNC ENSG00000079156 76 0 0 47 6 11.3208 MSGN1 0 genome.wustl.edu 37 2 17998186 17998186 + Missense_Mutation SNP A A T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 2 17998186 17998186 A T SNP MSGN1 ENST00000281047 human ensembl 74_37 +1 known missense c.401 p.K134M 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MSGN1 HGNC ENSG00000151379 50 0 0 40 7 14.8936 NUP35 0 genome.wustl.edu 37 2 184025818 184025818 + Missense_Mutation SNP A A C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 2 184025818 184025818 A C SNP NUP35 ENST00000295119 human ensembl 74_37 +1 known missense c.940 p.S314R 1.000 pirsf_Nucleoporin_NUP53 pfam_RRM_NUP35_dom,pirsf_Nucleoporin_NUP53 - no_errors NUP35 HGNC ENSG00000163002 39 0 0 24 3 11.1111 DNAH7 0 genome.wustl.edu 37 2 196834765 196834765 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 2 196834765 196834765 T G SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.2112 p.E704D 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 76 0 0 44 6 12 SCG2 0 genome.wustl.edu 37 2 224462479 224462479 + Missense_Mutation SNP A A C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 2 224462479 224462479 A C SNP SCG2 ENST00000305409 human ensembl 74_37 -1 known missense c.1522 p.L508V 1.000 pfam_Granin pfam_Granin - no_errors SCG2 HGNC ENSG00000171951 116 0 0 47 23 32.8571 DNMT3A 0 genome.wustl.edu 37 2 25497834 25497834 + Silent SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 2 25497834 25497834 C T SNP DNMT3A ENST00000264709 human ensembl 74_37 -1 known silent c.615 p.E205 1.000 NULL pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom - no_errors DNMT3A HGNC ENSG00000119772 49 0 0 19 8 29.6296 IMMT 0 genome.wustl.edu 37 2 86406632 86406632 + Missense_Mutation SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 2 86406632 86406632 G A SNP IMMT ENST00000410111 human ensembl 74_37 -1 known missense c.233 p.T78I 1.000 pfam_Mt-IM_prot_Mitofilin pfam_Mt-IM_prot_Mitofilin - no_errors IMMT HGNC ENSG00000132305 27 0 0 16 8 33.3333 TEKT4 0 genome.wustl.edu 37 2 95542476 95542476 + Missense_Mutation SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 2 95542476 95542476 C T SNP TEKT4 ENST00000295201 human ensembl 74_37 +1 known missense c.1270 p.R424C 0.689 pfam_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT4 HGNC ENSG00000163060 53 0 0 32 5 13.5135 CSRP2BP 0 genome.wustl.edu 37 20 18142527 18142527 + Missense_Mutation SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 20 18142527 18142527 G A SNP CSRP2BP ENST00000435364 human ensembl 74_37 +1 known missense c.746 p.R249Q 1.000 NULL pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors CSRP2BP HGNC ENSG00000149474 167 0 0 152 33 17.8378 RPN2 0 genome.wustl.edu 37 20 35858392 35858392 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 20 35858392 35858392 A G SNP RPN2 ENST00000237530 human ensembl 74_37 +1 known missense c.1511 p.K504R 1.000 pfam_Swp1 pfam_Swp1 - no_errors RPN2 HGNC ENSG00000118705 101 0 0 43 7 14 PIGT 0 genome.wustl.edu 37 20 44045194 44045194 + Silent SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 20 44045194 44045194 G A SNP PIGT ENST00000279036 human ensembl 74_37 +1 known silent c.225 p.Q75 0.999 pfam_PIG-T pfam_PIG-T - no_errors PIGT HGNC ENSG00000124155 46 0 0 23 6 20.6897 NTSR1 0 genome.wustl.edu 37 20 61391604 61391604 + Silent SNP C C A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 20 61391604 61391604 C A SNP NTSR1 ENST00000370501 human ensembl 74_37 +1 known silent c.1242 p.R414 0.996 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_NT1_rcpt,prints_GPCR_Rhodpsn,prints_NT_rcpt - no_errors NTSR1 HGNC ENSG00000101188 60 0 0 56 310 84.6995 MYT1 0 genome.wustl.edu 37 20 62839769 62839769 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 20 62839769 62839769 A G SNP MYT1 ENST00000536311 human ensembl 74_37 +1 known missense c.1220 p.Q407R 0.078 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 49 0 0 146 10 6.41026 ANGPT4 0 genome.wustl.edu 37 20 853672 853672 + Nonsense_Mutation SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 20 853672 853672 C T SNP ANGPT4 ENST00000381922 human ensembl 74_37 -1 known nonsense c.1443 p.W481* 1.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT4 HGNC ENSG00000101280 63 0 0 66 26 28.2609 RSPO4 0 genome.wustl.edu 37 20 948593 948593 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 20 948593 948593 T G SNP RSPO4 ENST00000217260 human ensembl 74_37 -1 known missense c.268 p.K90Q 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat superfamily_Growth_fac_rcpt_N_dom,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors RSPO4 HGNC ENSG00000101282 126 0 0 130 19 12.7517 LTN1 0 genome.wustl.edu 37 21 30316135 30316135 + Silent SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 21 30316135 30316135 T G SNP LTN1 ENST00000389194 human ensembl 74_37 -1 known silent c.4212 p.L1404 0.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors LTN1 HGNC ENSG00000198862 156 0 0 62 32 34.0426 ITSN1 0 genome.wustl.edu 37 21 35190767 35190767 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 21 35190767 35190767 A G SNP ITSN1 ENST00000381285 human ensembl 74_37 +1 known missense c.2924 p.K975R 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,superfamily_P-loop_NTPase,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN1 HGNC ENSG00000205726 162 0 0 142 11 7.18954 DOPEY2 0 genome.wustl.edu 37 21 37650614 37650614 + Missense_Mutation SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 21 37650614 37650614 T C SNP DOPEY2 ENST00000399151 human ensembl 74_37 +1 known missense c.5930 p.L1977P 1.000 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 85 0 0 67 25 27.1739 TEKT4P2 0 genome.wustl.edu 37 21 9907316 9907316 + RNA SNP G G T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 21 9907316 9907316 G T SNP TEKT4P2 ENST00000416067 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors TEKT4P2 HGNC ENSG00000188681 58 0 0 30 3 9.09091 POTEH 0 genome.wustl.edu 37 22 16287661 16287661 + Silent SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 22 16287661 16287661 G A SNP POTEH ENST00000343518 human ensembl 74_37 -1 known silent c.225 p.S75 0.081 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEH HGNC ENSG00000198062 17 0 0 21 5 19.2308 GNAZ 0 genome.wustl.edu 37 22 23465312 23465312 + Missense_Mutation SNP C C G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 22 23465312 23465312 C G SNP GNAZ ENST00000248996 human ensembl 74_37 +1 known missense c.762 p.I254M 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAZ HGNC ENSG00000128266 91 0 0 64 22 25.5814 GNAZ 0 genome.wustl.edu 37 22 23465478 23465478 + Missense_Mutation SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 22 23465478 23465478 G A SNP GNAZ ENST00000248996 human ensembl 74_37 +1 known missense c.928 p.D310N 1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAZ HGNC ENSG00000128266 40 0 0 61 5 7.57576 TFIP11 0 genome.wustl.edu 37 22 26895380 26895380 + Missense_Mutation SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 22 26895380 26895380 C T SNP TFIP11 ENST00000405938 human ensembl 74_37 -1 known missense c.1019 p.R340Q 1.000 NULL pfam_GCFC_dom,pfam_TIP_N,pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors TFIP11 HGNC ENSG00000100109 103 0 0 71 16 18.3908 NF2 0 genome.wustl.edu 37 22 30074212 30074212 + Missense_Mutation SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 22 30074212 30074212 C T SNP NF2 ENST00000338641 human ensembl 74_37 +1 known missense c.1474 p.P492S 1.000 pirsf_ERM,pfam_ERM_C_dom pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,prints_Tropomyosin - no_errors NF2 HGNC ENSG00000186575 146 0 0 74 38 33.9286 ENSG00000233080 0 genome.wustl.edu 37 22 35590865 35590865 + RNA SNP G G T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 22 35590865 35590865 G T SNP ENSG00000233080 ENST00000423311 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CTA-714B7.5 Clone_based_vega_gene ENSG00000233080 24 0 0 14 7 33.3333 PACSIN2 0 genome.wustl.edu 37 22 43287027 43287027 + Missense_Mutation SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 22 43287027 43287027 C T SNP PACSIN2 ENST00000263246 human ensembl 74_37 -1 known missense c.379 p.G127S 0.985 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 PACSIN2 HGNC ENSG00000100266 57 0 0 35 4 10.2564 CELSR1 0 genome.wustl.edu 37 22 46804928 46804928 + Missense_Mutation SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 22 46804928 46804928 C T SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known missense c.5191 p.A1731T 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 44 0 0 17 5 22.7273 KIAA1407 0 genome.wustl.edu 37 3 113753894 113753894 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 3 113753894 113753894 T G SNP KIAA1407 ENST00000295878 human ensembl 74_37 -1 known missense c.696 p.Q232H 1.000 NULL NULL - no_errors KIAA1407 HGNC ENSG00000163617 123 0 0 97 36 27.0677 RHO 0 genome.wustl.edu 37 3 129251538 129251538 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 3 129251538 129251538 T G SNP RHO ENST00000296271 human ensembl 74_37 +1 known missense c.859 p.F287V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Rhodopsin,prints_Opsin pfam_GPCR_Rhodpsn,pfam_Rhodopsin_N,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Rhodopsin,prints_GPCR_Rhodpsn,prints_Opsin - no_errors RHO HGNC ENSG00000163914 69 0 0 48 11 18.6441 KIF15 0 genome.wustl.edu 37 3 44842992 44842992 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 3 44842992 44842992 T G SNP KIF15 ENST00000326047 human ensembl 74_37 +1 known missense c.1273 p.F425V 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF15 HGNC ENSG00000163808 87 0 0 46 17 26.9841 BSN 0 genome.wustl.edu 37 3 49680049 49680049 + Missense_Mutation SNP A A C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 3 49680049 49680049 A C SNP BSN ENST00000296452 human ensembl 74_37 +1 known missense c.982 p.S328R 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 40 0 0 3 14 82.3529 TACR3 0 genome.wustl.edu 37 4 104577395 104577395 + Missense_Mutation SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 4 104577395 104577395 C T SNP TACR3 ENST00000304883 human ensembl 74_37 -1 known missense c.844 p.D282N 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK3_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK3_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK1_rcpt - no_errors TACR3 HGNC ENSG00000169836 110 1 0.900901 113 11 8.87097 COL25A1 0 genome.wustl.edu 37 4 110223041 110223041 + Silent SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 4 110223041 110223041 G A SNP COL25A1 ENST00000399132 human ensembl 74_37 -1 known silent c.135 p.A45 0.486 NULL pfam_Collagen - no_errors COL25A1 HGNC ENSG00000188517 119 0 0 76 20 20.8333 DDX60 0 genome.wustl.edu 37 4 169138150 169138150 + Silent SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 4 169138150 169138150 G A SNP DDX60 ENST00000393743 human ensembl 74_37 -1 known silent c.5073 p.D1691 0.765 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60 HGNC ENSG00000137628 78 0 0 53 16 23.1884 FAT1 0 genome.wustl.edu 37 4 187554958 187554958 + Silent SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 4 187554958 187554958 G A SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known silent c.4203 p.H1401 0.968 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 110 0 0 63 13 17.1053 TRIML2 0 genome.wustl.edu 37 4 189012817 189012817 + Missense_Mutation SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 4 189012817 189012817 T C SNP TRIML2 ENST00000512729 human ensembl 74_37 -1 known missense c.874 p.T292A 0.002 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors TRIML2 HGNC ENSG00000179046 305 1 0.326797 194 12 5.82524 SLIT2 0 genome.wustl.edu 37 4 20591350 20591350 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 4 20591350 20591350 A G SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known missense c.3172 p.K1058E 0.994 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 25 0 0 13 4 23.5294 TBC1D1 0 genome.wustl.edu 37 4 38046040 38046040 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 4 38046040 38046040 T G SNP TBC1D1 ENST00000261439 human ensembl 74_37 +1 known missense c.1471 p.F491V 0.985 NULL pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D1 HGNC ENSG00000065882 97 0 0 92 25 21.3675 RBM47 0 genome.wustl.edu 37 4 40440178 40440178 + Missense_Mutation SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 4 40440178 40440178 C T SNP RBM47 ENST00000295971 human ensembl 74_37 -1 known missense c.733 p.V245M 1.000 tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors RBM47 HGNC ENSG00000163694 138 0 0 87 47 35.0746 ATP10D 0 genome.wustl.edu 37 4 47582421 47582421 + Silent SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 4 47582421 47582421 T C SNP ATP10D ENST00000273859 human ensembl 74_37 +1 known silent c.3574 p.L1192 0.051 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10D HGNC ENSG00000145246 219 0 0 172 10 5.49451 KIT 0 genome.wustl.edu 37 4 55561768 55561768 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 4 55561768 55561768 A G SNP KIT ENST00000288135 human ensembl 74_37 +1 known missense c.158 p.E53G 0.002 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,smart_Ig_sub pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors KIT HGNC ENSG00000157404 86 0 0 52 17 24.6377 EVC2 0 genome.wustl.edu 37 4 5586387 5586387 + Missense_Mutation SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 4 5586387 5586387 T C SNP EVC2 ENST00000344408 human ensembl 74_37 -1 known missense c.3020 p.K1007R 0.032 NULL pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 37 0 0 29 4 12.1212 STAP1 0 genome.wustl.edu 37 4 68447130 68447130 + Silent SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 4 68447130 68447130 C T SNP STAP1 ENST00000265404 human ensembl 74_37 +1 known silent c.471 p.S157 0.000 NULL pfam_SH2,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_SH2 - no_errors STAP1 HGNC ENSG00000035720 167 0 0 85 79 48.1707 THAP9 0 genome.wustl.edu 37 4 83838294 83838294 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 4 83838294 83838294 T G SNP THAP9 ENST00000302236 human ensembl 74_37 +1 known missense c.929 p.L310R 0.841 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP9 HGNC ENSG00000168152 141 0 0 153 11 6.70732 AQPEP 0 genome.wustl.edu 37 5 115335576 115335576 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 5 115335576 115335576 T G SNP AQPEP ENST00000357872 human ensembl 74_37 +1 known missense c.1492 p.F498V 0.989 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors AQPEP Uniprot_gn ENSG00000172901 65 0 0 62 4 6.06061 DMXL1 0 genome.wustl.edu 37 5 118484481 118484481 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 5 118484481 118484481 T G SNP DMXL1 ENST00000539542 human ensembl 74_37 +1 known missense c.2959 p.L987V 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 100 0 0 71 10 12.3457 CDC25C 0 genome.wustl.edu 37 5 137622934 137622934 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 5 137622934 137622934 T G SNP CDC25C ENST00000323760 human ensembl 74_37 -1 known missense c.950 p.K317T 1.000 superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,prints_MPI_Phosphatase pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25C HGNC ENSG00000158402 53 0 0 33 9 21.4286 PCDHA10 0 genome.wustl.edu 37 5 140236750 140236750 + Missense_Mutation SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 5 140236750 140236750 G A SNP PCDHA10 ENST00000307360 human ensembl 74_37 +1 known missense c.1117 p.V373I 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA10 HGNC ENSG00000250120 153 0 0 83 21 20.1923 PCDHB5 0 genome.wustl.edu 37 5 140516360 140516360 + Silent SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 5 140516360 140516360 C T SNP PCDHB5 ENST00000231134 human ensembl 74_37 +1 known silent c.1344 p.P448 0.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB5 HGNC ENSG00000113209 264 0 0 146 44 23.1579 ANKH 0 genome.wustl.edu 37 5 14713673 14713673 + Silent SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 5 14713673 14713673 G A SNP ANKH ENST00000284268 human ensembl 74_37 -1 known silent c.1245 p.L415 0.746 NULL pfam_ANKH - no_errors ANKH HGNC ENSG00000154122 39 0 0 50 4 7.40741 BTNL8 0 genome.wustl.edu 37 5 180374616 180374616 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 5 180374616 180374616 A G SNP BTNL8 ENST00000340184 human ensembl 74_37 +1 known missense c.778 p.K260E 0.008 NULL pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTNL8 HGNC ENSG00000113303 319 0 0 403 39 8.82353 BTNL8 0 genome.wustl.edu 37 5 180375359 180375359 + Missense_Mutation SNP A A C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 5 180375359 180375359 A C SNP BTNL8 ENST00000340184 human ensembl 74_37 +1 known missense c.792 p.K264N 0.025 NULL pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTNL8 HGNC ENSG00000113303 173 0 0 198 25 11.2108 BTNL8 0 genome.wustl.edu 37 5 180377026 180377026 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 5 180377026 180377026 A G SNP BTNL8 ENST00000340184 human ensembl 74_37 +1 known missense c.985 p.S329G 0.001 superfamily_ConA-like_lec_gl_sf,smart_PRY,prints_Butyrophylin,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTNL8 HGNC ENSG00000113303 46 0 0 52 6 10.3448 BTNL8 0 genome.wustl.edu 37 5 180377398 180377398 + Missense_Mutation SNP A A C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 5 180377398 180377398 A C SNP BTNL8 ENST00000340184 human ensembl 74_37 +1 known missense c.1357 p.N453H 0.187 superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTNL8 HGNC ENSG00000113303 91 0 0 103 19 15.5738 BTNL8 0 genome.wustl.edu 37 5 180377443 180377443 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 5 180377443 180377443 A G SNP BTNL8 ENST00000340184 human ensembl 74_37 +1 known missense c.1402 p.K468E 0.000 NULL pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTNL8 HGNC ENSG00000113303 83 0 0 85 12 12.3711 IRX4 0 genome.wustl.edu 37 5 1879701 1879701 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 5 1879701 1879701 T G SNP IRX4 ENST00000231357 human ensembl 74_37 -1 known missense c.653 p.K218T 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX4 HGNC ENSG00000113430 72 0 0 58 10 14.7059 ZDHHC11 0 genome.wustl.edu 37 5 840653 840653 + Silent SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 5 840653 840653 G A SNP ZDHHC11 ENST00000283441 human ensembl 74_37 -1 known silent c.741 p.G247 0.001 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC11 HGNC ENSG00000188818 298 1 0.334448 242 32 11.6788 RSPH4A 0 genome.wustl.edu 37 6 116948943 116948943 + Missense_Mutation SNP A A T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 6 116948943 116948943 A T SNP RSPH4A ENST00000229554 human ensembl 74_37 +1 known missense c.1073 p.K358M 1.000 pfam_Radial_spoke pfam_Radial_spoke - no_errors RSPH4A HGNC ENSG00000111834 102 0 0 69 17 19.7674 PEX3 0 genome.wustl.edu 37 6 143793448 143793448 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 6 143793448 143793448 A G SNP PEX3 ENST00000367591 human ensembl 74_37 +1 known missense c.730 p.T244A 1.000 pfam_Peroxin-3 pfam_Peroxin-3 - no_errors PEX3 HGNC ENSG00000034693 58 0 0 53 8 13.1148 OR14J1 0 genome.wustl.edu 37 6 29274938 29274938 + Missense_Mutation SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 6 29274938 29274938 G A SNP OR14J1 ENST00000377160 human ensembl 74_37 +1 known missense c.472 p.A158T 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR14J1 HGNC ENSG00000204695 154 1 0.645161 153 14 8.38323 BTBD9 0 genome.wustl.edu 37 6 38561952 38561952 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 6 38561952 38561952 A G SNP BTBD9 ENST00000403056 human ensembl 74_37 -1 known missense c.337 p.F113L 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,pfam_BACK,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_BTB/POZ_fold,superfamily_Galactose-bd-like,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD9 HGNC ENSG00000183826 283 0 0 201 61 23.2824 HSP90AB1 0 genome.wustl.edu 37 6 44217547 44217547 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 6 44217547 44217547 T G SNP HSP90AB1 ENST00000353801 human ensembl 74_37 +1 known missense c.490 p.S164A 1.000 pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pirsf_Hsp90_fam pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pirsf_Hsp90_fam,prints_Hsp90_N - no_errors HSP90AB1 HGNC ENSG00000096384 291 0 0 229 80 25.89 PTCHD4 0 genome.wustl.edu 37 6 47847079 47847079 + Missense_Mutation SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 6 47847079 47847079 T C SNP PTCHD4 ENST00000339488 human ensembl 74_37 -1 known missense c.1501 p.S501G 0.996 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD4 HGNC ENSG00000244694 42 0 0 13 11 45.8333 PKHD1 0 genome.wustl.edu 37 6 51890809 51890809 + Missense_Mutation SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 6 51890809 51890809 C T SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.3799 p.A1267T 0.007 superfamily_Ig_E-set,smart_IPT pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 62 0 0 42 13 23.6364 KIAA1586 0 genome.wustl.edu 37 6 56918933 56918933 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 6 56918933 56918933 A G SNP KIAA1586 ENST00000370733 human ensembl 74_37 +1 known missense c.1636 p.R546G 1.000 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom - no_errors KIAA1586 HGNC ENSG00000168116 47 0 0 23 16 41.0256 BAI3 0 genome.wustl.edu 37 6 69348663 69348663 + Silent SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 6 69348663 69348663 T G SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known silent c.96 p.T32 1.000 pfscan_CUB_dom 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 83 0 0 69 5 6.75676 COL12A1 0 genome.wustl.edu 37 6 75862083 75862083 + Silent SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 6 75862083 75862083 T C SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known silent c.3681 p.E1227 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 65 0 0 30 7 18.9189 ANKRD6 0 genome.wustl.edu 37 6 90326294 90326294 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 6 90326294 90326294 T G SNP ANKRD6 ENST00000339746 human ensembl 74_37 +1 known missense c.632 p.L211R 0.999 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD6 HGNC ENSG00000135299 76 0 0 42 20 32.2581 POLR2J3 0 genome.wustl.edu 37 7 102212758 102212758 + RNA SNP G G T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 7 102212758 102212758 G T SNP POLR2J3 ENST00000504157 human ensembl 74_37 -1 known rna NULL NULL 0.014 - - - no_errors POLR2J3 HGNC ENSG00000168255 52 0 0 27 9 25 PIK3CG 0 genome.wustl.edu 37 7 106509364 106509364 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 7 106509364 106509364 A G SNP PIK3CG ENST00000359195 human ensembl 74_37 +1 known missense c.1358 p.E453G 0.993 pfam_PI3K_C2_dom,superfamily_C2_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CG HGNC ENSG00000105851 98 0 0 68 13 16.0494 ZNF425 0 genome.wustl.edu 37 7 148801027 148801027 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 7 148801027 148801027 T G SNP ZNF425 ENST00000378061 human ensembl 74_37 -1 known missense c.1936 p.S646R 0.865 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,pfscan_Krueppel-associated_box-rel - no_errors ZNF425 HGNC ENSG00000204947 200 0 0 127 17 11.8056 INTS4L2 0 genome.wustl.edu 37 7 65160128 65160128 + RNA SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 7 65160128 65160128 T G SNP INTS4L2 ENST00000430126 human ensembl 74_37 +1 known rna NULL NULL 0.994 - - - no_errors INTS4L2 HGNC ENSG00000232270 45 0 0 9 3 25 CRCP 0 genome.wustl.edu 37 7 65579838 65579838 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 7 65579838 65579838 A G SNP CRCP ENST00000431089 human ensembl 74_37 +1 putative missense c.23 p.E8G 0.988 NULL pfam_RNA_pol_II_Rpb4,superfamily_HRDC-like,smart_RNA_pol_II_Rpb4_core - no_errors CRCP HGNC ENSG00000241258 47 0 0 43 4 8.51064 GTF2IRD2 0 genome.wustl.edu 37 7 74211859 74211859 + Silent SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 7 74211859 74211859 C T SNP GTF2IRD2 ENST00000405086 human ensembl 74_37 -1 known silent c.1992 p.K664 0.135 superfamily_RNaseH-like_dom pfam_GTF2I,superfamily_GTF2I,superfamily_RNaseH-like_dom,pfscan_GTF2I - no_errors GTF2IRD2 HGNC ENSG00000196275 49 0 0 37 13 26 HSPB1 0 genome.wustl.edu 37 7 75932122 75932122 + Silent SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 7 75932122 75932122 G A SNP HSPB1 ENST00000248553 human ensembl 74_37 +1 known silent c.93 p.Q31 1.000 prints_Alpha-crystallin/HSP pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP - no_errors HSPB1 HGNC ENSG00000106211 17 0 0 11 3 21.4286 ABCB1 0 genome.wustl.edu 37 7 87160630 87160630 + Nonsense_Mutation SNP C C A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 7 87160630 87160630 C A SNP ABCB1 ENST00000265724 human ensembl 74_37 -1 known nonsense c.2665 p.E889* 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB1 HGNC ENSG00000085563 106 0 0 85 14 14.1414 GSDMC 0 genome.wustl.edu 37 8 130760962 130760962 + Missense_Mutation SNP A A C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 8 130760962 130760962 A C SNP GSDMC ENST00000276708 human ensembl 74_37 -1 known missense c.1312 p.F438V 1.000 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMC HGNC ENSG00000147697 66 0 0 63 11 14.8649 FAM135B 0 genome.wustl.edu 37 8 139144979 139144979 + Missense_Mutation SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 8 139144979 139144979 T C SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known missense c.4078 p.T1360A 1.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 282 0 0 301 29 8.78788 RUNX1T1 0 genome.wustl.edu 37 8 92998514 92998514 + Nonsense_Mutation SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 8 92998514 92998514 G A SNP RUNX1T1 ENST00000436581 human ensembl 74_37 -1 known nonsense c.1150 p.R384* 1.000 pfam_NHR2 pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8 - no_errors RUNX1T1 HGNC ENSG00000079102 127 0 0 140 9 6.04027 GABBR2 0 genome.wustl.edu 37 9 101125010 101125010 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 9 101125010 101125010 T G SNP GABBR2 ENST00000259455 human ensembl 74_37 -1 known missense c.1880 p.K627T 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3,pfscan_GPCR_3_C - no_errors GABBR2 HGNC ENSG00000136928 48 0 0 16 16 50 FKTN 0 genome.wustl.edu 37 9 108397526 108397526 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 9 108397526 108397526 A G SNP FKTN ENST00000223528 human ensembl 74_37 +1 known missense c.1367 p.E456G 1.000 NULL pfam_LicD,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom - no_errors FKTN HGNC ENSG00000106692 84 0 0 55 34 38.2022 TNFSF8 0 genome.wustl.edu 37 9 117692483 117692483 + Missense_Mutation SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 9 117692483 117692483 G A SNP TNFSF8 ENST00000223795 human ensembl 74_37 -1 known missense c.101 p.T34M 0.349 pirsf_TNF_CD30_ligand_type pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_CD30_ligand_type,pfscan_TNF_dom - no_errors TNFSF8 HGNC ENSG00000106952 130 0 0 64 69 51.8797 CERCAM 0 genome.wustl.edu 37 9 131196814 131196814 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 9 131196814 131196814 A G SNP CERCAM ENST00000372838 human ensembl 74_37 +1 known missense c.1457 p.K486R 1.000 pfam_Glyco_trans_25 pfam_Glyco_trans_25 - no_errors CERCAM HGNC ENSG00000167123 69 0 0 51 4 7.27273 PPP1R26 0 genome.wustl.edu 37 9 138377178 138377178 + Silent SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 9 138377178 138377178 G A SNP PPP1R26 ENST00000356818 human ensembl 74_37 +1 known silent c.822 p.V274 0.000 NULL NULL - no_errors PPP1R26 HGNC ENSG00000196422 253 0 0 92 85 48.0226 IFNA17 0 genome.wustl.edu 37 9 21227998 21227998 + Missense_Mutation SNP A A T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 9 21227998 21227998 A T SNP IFNA17 ENST00000413767 human ensembl 74_37 -1 known missense c.175 p.F59I 0.176 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA17 HGNC ENSG00000234829 230 0 0 154 9 5.52147 NOX1 0 genome.wustl.edu 37 X 100117182 100117182 + Missense_Mutation SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 X 100117182 100117182 T C SNP NOX1 ENST00000372966 human ensembl 74_37 -1 known missense c.782 p.K261R 0.026 NULL 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 NOX1 HGNC ENSG00000007952 195 0 0 111 31 21.831 NXF5 0 genome.wustl.edu 37 X 101095862 101095862 + Silent SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 X 101095862 101095862 C T SNP NXF5 ENST00000263032 human ensembl 74_37 -1 known silent c.486 p.L162 0.281 NULL pfam_Tap_RNA-bd - no_errors NXF5 HGNC ENSG00000126952 96 0 0 67 9 11.8421 ARMCX5 0 genome.wustl.edu 37 X 101857231 101857231 + Silent SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 X 101857231 101857231 T C SNP ARMCX5 ENST00000246174 human ensembl 74_37 +1 known silent c.162 p.A54 0.037 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors ARMCX5 HGNC ENSG00000125962 82 0 0 59 9 13.2353 BHLHB9 0 genome.wustl.edu 37 X 102004547 102004547 + Silent SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 X 102004547 102004547 A G SNP BHLHB9 ENST00000361229 human ensembl 74_37 +1 known silent c.624 p.K208 0.962 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors BHLHB9 HGNC ENSG00000198908 294 0 0 185 46 19.9134 NXF3 0 genome.wustl.edu 37 X 102337226 102337226 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 X 102337226 102337226 T G SNP NXF3 ENST00000395065 human ensembl 74_37 -1 known missense c.847 p.S283R 0.003 NULL pfam_Tap_RNA-bd,pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk - no_errors NXF3 HGNC ENSG00000147206 256 0 0 165 39 19.1176 ACSL4 0 genome.wustl.edu 37 X 108887374 108887374 + Missense_Mutation SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 X 108887374 108887374 T C SNP ACSL4 ENST00000340800 human ensembl 74_37 -1 known missense c.2020 p.S674G 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSL4 HGNC ENSG00000068366 92 0 0 79 21 21 DOCK11 0 genome.wustl.edu 37 X 117788650 117788650 + Missense_Mutation SNP A A T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 X 117788650 117788650 A T SNP DOCK11 ENST00000276202 human ensembl 74_37 +1 known missense c.4781 p.E1594V 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC ENSG00000147251 107 0 0 70 22 23.913 TENM1 0 genome.wustl.edu 37 X 123657356 123657356 + Missense_Mutation SNP A A C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 X 123657356 123657356 A C SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.2891 p.V964G 0.997 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 123 0 0 68 35 33.9806 DCAF12L2 0 genome.wustl.edu 37 X 125298907 125298907 + Missense_Mutation SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 X 125298907 125298907 G A SNP DCAF12L2 ENST00000360028 human ensembl 74_37 -1 known missense c.1001 p.P334L 0.997 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 149 0 0 79 48 37.7953 CXorf40A 0 genome.wustl.edu 37 X 148627278 148627278 + Missense_Mutation SNP G G T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 X 148627278 148627278 G T SNP CXorf40A ENST00000359293 human ensembl 74_37 +1 known missense c.102 p.Q34H 0.001 superfamily_PUA-like_domain superfamily_PUA-like_domain - no_errors CXorf40A HGNC ENSG00000197620 92 0 0 48 8 14.2857 GABRQ 0 genome.wustl.edu 37 X 151817720 151817720 + Silent SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 X 151817720 151817720 C T SNP GABRQ ENST00000370306 human ensembl 74_37 +1 known silent c.534 p.T178 0.127 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_GABAAt_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABAAb_rcpt,prints_GABAAa_rcpt,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRQ HGNC ENSG00000147402 145 0 0 75 8 9.63855 PLXNB3 0 genome.wustl.edu 37 X 153042361 153042361 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 X 153042361 153042361 T G SNP PLXNB3 ENST00000538966 human ensembl 74_37 +1 known missense c.4922 p.V1641G 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Plexin_repeat,pfam_Semap_dom,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 PLXNB3 HGNC ENSG00000198753 15 0 0 8 4 33.3333 MAGEB18 0 genome.wustl.edu 37 X 26157256 26157256 + Silent SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 X 26157256 26157256 T C SNP MAGEB18 ENST00000325250 human ensembl 74_37 +1 known silent c.154 p.L52 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB18 HGNC ENSG00000176774 69 0 0 55 6 9.83607 ZNF674 0 genome.wustl.edu 37 X 46360233 46360233 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 X 46360233 46360233 T G SNP ZNF674 ENST00000523374 human ensembl 74_37 -1 known missense c.791 p.K264T 0.002 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF674 HGNC ENSG00000251192 14 0 0 15 7 31.8182 CACNA1F 0 genome.wustl.edu 37 X 49061780 49061780 + Silent SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 X 49061780 49061780 G A SNP CACNA1F ENST00000376265 human ensembl 74_37 -1 known silent c.5751 p.F1917 0.988 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1F HGNC ENSG00000102001 34 0 0 28 3 9.67742 KIAA2022 0 genome.wustl.edu 37 X 73961054 73961054 + Missense_Mutation SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 X 73961054 73961054 T C SNP KIAA2022 ENST00000055682 human ensembl 74_37 -1 known missense c.3338 p.K1113R 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 108 0 0 76 4 5 GPR143 0 genome.wustl.edu 37 X 9693829 9693829 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 X 9693829 9693829 T G SNP GPR143 ENST00000380929 human ensembl 74_37 -1 known missense c.1232 p.K411T 0.000 pfam_Ocular_alb1 pfam_Ocular_alb1,pfam_GPCR_2_secretin-like,prints_Ocular_alb1 - no_errors GPR143 HGNC ENSG00000101850 33 0 0 28 5 15.1515 ZNF518A 0 genome.wustl.edu 37 10 97918065 97918065 + RNA DEL C C - TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 10 97918065 97918065 C - DEL ZNF518A ENST00000316045 human ensembl 74_37 +1 known rna NULL NULL 0.967 - - - no_errors ZNF518A HGNC ENSG00000177853 91 0 0 58 16 21.6216 BTNL8 0 genome.wustl.edu 37 5 180377441 180377441 + Frame_Shift_Del DEL A A - TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 5 180377441 180377441 A - DEL BTNL8 ENST00000340184 human ensembl 74_37 +1 known frame_shift_del c.1400 p.E467fs 0.001 NULL pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTNL8 HGNC ENSG00000113303 89 0 0 93 11 10.5769 SREK1IP1 0 genome.wustl.edu 37 5 64023940 64023941 + Frame_Shift_Ins INS - - T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 5 64023940 64023941 - T INS SREK1IP1 ENST00000513458 human ensembl 74_37 -1 known frame_shift_ins c.272_271 p.R91fs 0.998:1.000 NULL superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors SREK1IP1 HGNC ENSG00000153006 11 0 0 4 2 33.3333 DSP 0 genome.wustl.edu 37 6 7542148 7542149 + Frame_Shift_Ins INS - - A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 6 7542148 7542149 - A INS DSP ENST00000379802 human ensembl 74_37 +1 known frame_shift_ins c.2_1 p.M0fs 0.955:0.997 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 22 0 0 17 2 10.5263 GARS 0 genome.wustl.edu 37 7 30634583 30634585 + In_Frame_Del DEL CTG CTG - TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 7 30634583 30634585 CTG - DEL GARS ENST00000389266 human ensembl 74_37 +1 known in_frame_del c.46_48 p.L19in_frame_del 0.090:0.073:0.025 NULL pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_WHEP-TRS,superfamily_Anticodon-bd,superfamily_S15_NS1_RNA-bd,prints_tRNA-synt_gly,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_tRNA-synt_gly - no_errors GARS HGNC ENSG00000106105 17 0 0 13 2 13.3333