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 AMY2B 0 genome.wustl.edu 37 1 104112972 104112972 + RNA SNP G G C TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 1 104112972 104112972 G C SNP AMY2B ENST00000491397 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AMY2B HGNC ENSG00000240038 62 0 0 38 20 34.4828 NBPF10 0 genome.wustl.edu 37 1 145327548 145327548 + Missense_Mutation SNP A A G TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 1 145327548 145327548 A G SNP NBPF10 ENST00000342960 human ensembl 74_37 +1 known missense c.4105 p.N1369D 0.000 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF10 HGNC ENSG00000163386 10 0 0 3 2 40 OR6Y1 0 genome.wustl.edu 37 1 158517584 158517584 + Silent SNP A A T TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 1 158517584 158517584 A T SNP OR6Y1 ENST00000302617 human ensembl 74_37 -1 known silent c.312 p.T104 0.994 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6Y1 HGNC ENSG00000197532 99 0 0 55 43 43.8776 NBPF1 0 genome.wustl.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 1 16918653 16918653 C T SNP NBPF1 ENST00000392963 human ensembl 74_37 -1 known splice_site c.1+1 e0+1 0.202 - - - no_errors NBPF1 HGNC ENSG00000219481 47 0 0 53 4 7.01754 CACNA1E 0 genome.wustl.edu 37 1 181724450 181724450 + Silent SNP C C T TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 1 181724450 181724450 C T SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known silent c.3906 p.I1302 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 133 0 0 89 48 35.0365 RAB3GAP2 0 genome.wustl.edu 37 1 220357408 220357408 + Missense_Mutation SNP A A C TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 1 220357408 220357408 A C SNP RAB3GAP2 ENST00000358951 human ensembl 74_37 -1 known missense c.1968 p.D656E 0.007 NULL superfamily_WD40_repeat_dom - no_errors RAB3GAP2 HGNC ENSG00000118873 23 0 0 28 7 20 RCC1 0 genome.wustl.edu 37 1 28857064 28857064 + Missense_Mutation SNP C C T TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 1 28857064 28857064 C T SNP RCC1 ENST00000373831 human ensembl 74_37 +1 known missense c.103 p.P35S 0.145 NULL pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RCC1 HGNC ENSG00000180198 14 0 0 6 3 33.3333 YTHDF2 0 genome.wustl.edu 37 1 29070218 29070218 + Missense_Mutation SNP A A G TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 1 29070218 29070218 A G SNP YTHDF2 ENST00000373812 human ensembl 74_37 +1 known missense c.1436 p.Y479C 1.000 pfam_YTH_domain,pfscan_YTH_domain pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDF2 HGNC ENSG00000198492 52 0 0 42 23 35.3846 STK40 0 genome.wustl.edu 37 1 36809854 36809854 + Missense_Mutation SNP G G A TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 1 36809854 36809854 G A SNP STK40 ENST00000373130 human ensembl 74_37 -1 known missense c.766 p.R256C 0.998 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK40 HGNC ENSG00000196182 111 0 0 41 26 38.806 PTPRF 0 genome.wustl.edu 37 1 44083581 44083581 + Missense_Mutation SNP G G A TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 1 44083581 44083581 G A SNP PTPRF ENST00000359947 human ensembl 74_37 +1 known missense c.4370 p.R1457Q 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC ENSG00000142949 34 0 0 22 2 8.33333 C1orf177 0 genome.wustl.edu 37 1 55277794 55277794 + Missense_Mutation SNP C C T TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 1 55277794 55277794 C T SNP C1orf177 ENST00000371273 human ensembl 74_37 +1 known missense c.694 p.R232C 0.201 NULL NULL - no_errors C1orf177 HGNC ENSG00000162398 97 0 0 91 5 5.20833 MRVI1 0 genome.wustl.edu 37 11 10673689 10673689 + Silent SNP G G A TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 11 10673689 10673689 G A SNP MRVI1 ENST00000421747 human ensembl 74_37 -1 known silent c.81 p.D27 0.976 NULL pfam_MRVI1 - no_errors MRVI1 HGNC ENSG00000072952 19 0 0 21 6 22.2222 CUL5 0 genome.wustl.edu 37 11 107960310 107960310 + Missense_Mutation SNP C C T TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 11 107960310 107960310 C T SNP CUL5 ENST00000393094 human ensembl 74_37 +1 known missense c.1403 p.A468V 1.000 pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL5 HGNC ENSG00000166266 20 0 0 14 12 46.1538 DSCAML1 0 genome.wustl.edu 37 11 117299181 117299181 + Missense_Mutation SNP C C T TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 11 117299181 117299181 C T SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known missense c.6205 p.E2069K 0.985 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 30 0 0 21 15 41.6667 METTL15 0 genome.wustl.edu 37 11 28318379 28318379 + Missense_Mutation SNP G G A TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 11 28318379 28318379 G A SNP METTL15 ENST00000303459 human ensembl 74_37 +1 known missense c.679 p.G227R 1.000 pfam_RsmH,superfamily_SAM-dep_MeTrfase_MraW_recog,tigrfam_RsmH pfam_RsmH,superfamily_SAM-dep_MeTrfase_MraW_recog,tigrfam_RsmH - no_errors METTL15 HGNC ENSG00000169519 77 0 0 61 33 35.1064 ANO9 0 genome.wustl.edu 37 11 419621 419621 + Missense_Mutation SNP C C T TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 11 419621 419621 C T SNP ANO9 ENST00000332826 human ensembl 74_37 -1 known missense c.1895 p.R632H 0.015 pfam_Anoctamin pfam_Anoctamin - no_errors ANO9 HGNC ENSG00000185101 65 0 0 21 14 40 OR10A4 0 genome.wustl.edu 37 11 6898608 6898608 + Missense_Mutation SNP G G T TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 11 6898608 6898608 G T SNP OR10A4 ENST00000379829 human ensembl 74_37 +1 known missense c.730 p.A244S 0.984 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A4 HGNC ENSG00000170782 84 0 0 79 7 8.13953 ALDH1L2 0 genome.wustl.edu 37 12 105433512 105433512 + Missense_Mutation SNP A A G TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 12 105433512 105433512 A G SNP ALDH1L2 ENST00000258494 human ensembl 74_37 -1 known missense c.2024 p.I675T 0.965 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L2 HGNC ENSG00000136010 130 0 0 71 40 36.036 TMEM132D 0 genome.wustl.edu 37 12 129563254 129563254 + Missense_Mutation SNP G G A TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 12 129563254 129563254 G A SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known missense c.1940 p.S647L 0.999 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 89 0 0 48 33 40.7407 TMEM132D 0 genome.wustl.edu 37 12 130185232 130185232 + Silent SNP G G T TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 12 130185232 130185232 G T SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known silent c.91 p.R31 0.994 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 51 0 0 31 9 22.5 TMCO3 0 genome.wustl.edu 37 13 114193756 114193756 + Missense_Mutation SNP G G A TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 13 114193756 114193756 G A SNP TMCO3 ENST00000434316 human ensembl 74_37 +1 known missense c.1624 p.E542K 1.000 pfam_Cation/H_exchanger pfam_Cation/H_exchanger - no_errors TMCO3 HGNC ENSG00000150403 54 0 0 39 21 35 SPG11 0 genome.wustl.edu 37 15 44913993 44913993 + Nonsense_Mutation SNP G G A TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 15 44913993 44913993 G A SNP SPG11 ENST00000261866 human ensembl 74_37 -1 known nonsense c.2584 p.Q862* 0.953 NULL NULL - no_errors SPG11 HGNC ENSG00000104133 66 0 0 56 18 24.3243 HCN4 0 genome.wustl.edu 37 15 73617682 73617682 + Missense_Mutation SNP T T A TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 15 73617682 73617682 T A SNP HCN4 ENST00000261917 human ensembl 74_37 -1 known missense c.1694 p.D565V 1.000 superfamily_cNMP-bd-like pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,pfscan_cNMP-bd_dom - no_errors HCN4 HGNC ENSG00000138622 154 0 0 73 31 29.8077 CHRNA3 0 genome.wustl.edu 37 15 78894525 78894525 + Silent SNP G G A TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 15 78894525 78894525 G A SNP CHRNA3 ENST00000326828 human ensembl 74_37 -1 known silent c.459 p.A153 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA3 HGNC ENSG00000080644 83 0 0 46 19 29.2308 NARFL 0 genome.wustl.edu 37 16 780985 780985 + Silent SNP C C T TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 16 780985 780985 C T SNP NARFL ENST00000251588 human ensembl 74_37 -1 known silent c.1050 p.Q350 1.000 pfam_Fe_hydrogenase_lsu_C,superfamily_Fe_hydrogenase pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like - no_errors NARFL HGNC ENSG00000103245 90 0 0 63 9 12.5 ETV4 0 genome.wustl.edu 37 17 41606033 41606033 + Missense_Mutation SNP G G A TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 17 41606033 41606033 G A SNP ETV4 ENST00000319349 human ensembl 74_37 -1 known missense c.1309 p.R437C 1.000 NULL pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,prints_Ets_dom,pfscan_Ets_dom - no_errors ETV4 HGNC ENSG00000175832 65 0 0 53 5 8.62069 KIF2B 0 genome.wustl.edu 37 17 51900853 51900853 + Missense_Mutation SNP C C G TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 17 51900853 51900853 C G SNP KIF2B ENST00000268919 human ensembl 74_37 +1 known missense c.459 p.I153M 0.948 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 75 0 0 56 3 5.08475 SMAD4 0 genome.wustl.edu 37 18 48591925 48591925 + Missense_Mutation SNP G G A TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 18 48591925 48591925 G A SNP SMAD4 ENST00000342988 human ensembl 74_37 +1 known missense c.1088 p.C363Y 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 56 0 0 17 15 46.875 ZNF607 0 genome.wustl.edu 37 19 38190612 38190612 + Silent SNP T T C TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 19 38190612 38190612 T C SNP ZNF607 ENST00000355202 human ensembl 74_37 -1 known silent c.420 p.E140 0.972 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 ZNF607 HGNC ENSG00000198182 76 0 0 89 41 31.5385 FCGBP 0 genome.wustl.edu 37 19 40389651 40389651 + Splice_Site SNP C C T TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 19 40389651 40389651 C T SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known splice_site c.8530+1 e18+1 0.741 - - - no_errors FCGBP HGNC ENSG00000090920 37 0 0 36 6 14.2857 KLC3 0 genome.wustl.edu 37 19 45854575 45854575 + Missense_Mutation SNP G G A TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 19 45854575 45854575 G A SNP KLC3 ENST00000470402 human ensembl 74_37 +1 known missense c.1517 p.R506Q 0.560 NULL pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light - no_errors KLC3 HGNC ENSG00000104892 147 0 0 113 44 28.0255 ZNF606 0 genome.wustl.edu 37 19 58489997 58489997 + Missense_Mutation SNP T T C TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 19 58489997 58489997 T C SNP ZNF606 ENST00000341164 human ensembl 74_37 -1 known missense c.2051 p.Q684R 0.782 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 ZNF606 HGNC ENSG00000166704 61 0 0 78 6 7.14286 MZF1 0 genome.wustl.edu 37 19 59074541 59074541 + Missense_Mutation SNP C C T TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 19 59074541 59074541 C T SNP MZF1 ENST00000215057 human ensembl 74_37 -1 known missense c.1103 p.R368H 0.146 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors MZF1 HGNC ENSG00000099326 24 0 0 20 2 9.09091 LRP2 0 genome.wustl.edu 37 2 170033000 170033000 + Missense_Mutation SNP G G A TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 2 170033000 170033000 G A SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.10492 p.R3498C 0.717 superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 55 0 0 42 26 38.2353 SIGLEC1 0 genome.wustl.edu 37 20 3686512 3686512 + Silent SNP G G A TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 20 3686512 3686512 G A SNP SIGLEC1 ENST00000344754 human ensembl 74_37 -1 known silent c.585 p.G195 0.000 pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC1 HGNC ENSG00000088827 84 0 0 95 30 24 KCNG1 0 genome.wustl.edu 37 20 49626831 49626831 + Silent SNP C C T TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 20 49626831 49626831 C T SNP KCNG1 ENST00000371571 human ensembl 74_37 -1 known silent c.45 p.A15 0.996 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG1 HGNC ENSG00000026559 51 0 0 39 6 13.3333 YWHAH 0 genome.wustl.edu 37 22 32352435 32352435 + Missense_Mutation SNP T T G TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 22 32352435 32352435 T G SNP YWHAH ENST00000248975 human ensembl 74_37 +1 known missense c.397 p.Y133D 1.000 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors YWHAH HGNC ENSG00000128245 29 0 0 25 13 34.2105 SGSM3 0 genome.wustl.edu 37 22 40800320 40800320 + Missense_Mutation SNP G G A TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 22 40800320 40800320 G A SNP SGSM3 ENST00000248929 human ensembl 74_37 +1 known missense c.227 p.R76Q 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_Rab-GTPase-TBC_dom,superfamily_SH3_domain,smart_Rab-GTPase-TBC_dom,smart_SH3_domain,smart_Run,pfscan_Run,pfscan_SH3_domain,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM3 HGNC ENSG00000100359 67 0 0 61 27 30.6818 ACO2 0 genome.wustl.edu 37 22 41924552 41924552 + Missense_Mutation SNP G G A TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 22 41924552 41924552 G A SNP ACO2 ENST00000216254 human ensembl 74_37 +1 known missense c.2278 p.E760K 1.000 superfamily_Aconitase/3IPM_dehydase_swvl,tigrfam_Aconitase_mito-like pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase_mito-like - no_errors ACO2 HGNC ENSG00000100412 49 0 0 38 18 32.1429 MBD4 0 genome.wustl.edu 37 3 129151293 129151293 + Silent SNP T T C TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 3 129151293 129151293 T C SNP MBD4 ENST00000507208 human ensembl 74_37 -1 novel silent c.1718 p.*573 0.004 NULL pfam_Methyl_CpG_DNA-bd,pfam_HhH-GPD_domain,superfamily_DNA-bd_dom,superfamily_DNA_glycosylase,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MBD4,pfscan_Methyl_CpG_DNA-bd - no_errors MBD4 HGNC ENSG00000129071 36 0 0 55 3 5.17241 FAM194A 0 genome.wustl.edu 37 3 150421527 150421527 + Silent SNP C C T TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 3 150421527 150421527 C T SNP FAM194A ENST00000295910 human ensembl 74_37 -1 known silent c.159 p.E53 0.003 NULL NULL - no_errors FAM194A HGNC ENSG00000163645 15 0 0 19 2 9.52381 P2RY14 0 genome.wustl.edu 37 3 150931958 150931958 + Silent SNP G G A TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 3 150931958 150931958 G A SNP P2RY14 ENST00000309170 human ensembl 74_37 -1 known silent c.147 p.Y49 0.000 prints_P2Y14_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_P2Y14_rcpt,prints_GPCR_Rhodpsn,prints_P2Y13_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors P2RY14 HGNC ENSG00000174944 114 0 0 105 34 24.4604 ITPR1 0 genome.wustl.edu 37 3 4699844 4699844 + Missense_Mutation SNP C C T TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 3 4699844 4699844 C T SNP ITPR1 ENST00000302640 human ensembl 74_37 +1 known missense c.988 p.R330W 1.000 pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 78 0 0 79 14 15.0538 RHOA 0 genome.wustl.edu 37 3 49412907 49412907 + Missense_Mutation SNP A A C TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 3 49412907 49412907 A C SNP RHOA ENST00000418115 human ensembl 74_37 -1 known missense c.116 p.F39C 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,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,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOA HGNC ENSG00000067560 141 1 0.704225 103 88 46.0733 KIAA1109 0 genome.wustl.edu 37 4 123265668 123265668 + Missense_Mutation SNP G G T TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 4 123265668 123265668 G T SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.12685 p.V4229L 0.999 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 110 0 0 97 41 29.7101 ANTXR2 0 genome.wustl.edu 37 4 80975471 80975471 + Missense_Mutation SNP G G C TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 4 80975471 80975471 G C SNP ANTXR2 ENST00000307333 human ensembl 74_37 -1 known missense c.591 p.F197L 1.000 pirsf_Anthrax_toxin_rcpt,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_C,pfam_Anthrax_toxin_rcpt_extracel,pfam_VWF_A,superfamily_Ig_E-set,smart_VWF_A,pfscan_VWF_A - no_errors ANTXR2 HGNC ENSG00000163297 52 0 0 59 28 32.1839 ENSG00000227304 0 genome.wustl.edu 37 4 83417185 83417185 + RNA SNP G G T TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 4 83417185 83417185 G T SNP ENSG00000227304 ENST00000488045 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-791G16.2 Clone_based_vega_gene ENSG00000227304 34 0 0 18 11 37.931 FEM1C 0 genome.wustl.edu 37 5 114878880 114878880 + Missense_Mutation SNP T T C TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 5 114878880 114878880 T C SNP FEM1C ENST00000274457 human ensembl 74_37 -1 known missense c.311 p.N104S 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 FEM1C HGNC ENSG00000145780 52 0 0 50 6 10.7143 KIF3A 0 genome.wustl.edu 37 5 132056301 132056301 + Missense_Mutation SNP G G A TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 5 132056301 132056301 G A SNP KIF3A ENST00000378735 human ensembl 74_37 -1 known missense c.616 p.R206C 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_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 KIF3A HGNC ENSG00000131437 28 0 0 19 6 24 OLIG3 0 genome.wustl.edu 37 6 137815222 137815222 + Missense_Mutation SNP T T C TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 6 137815222 137815222 T C SNP OLIG3 ENST00000367734 human ensembl 74_37 -1 known missense c.86 p.H29R 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors OLIG3 HGNC ENSG00000177468 105 1 0.943396 49 3 5.76923 MDC1 0 genome.wustl.edu 37 6 30680092 30680092 + Missense_Mutation SNP C C T TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 6 30680092 30680092 C T SNP MDC1 ENST00000376406 human ensembl 74_37 -1 known missense c.1627 p.V543M 0.096 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 59 0 0 47 20 29.8507 SSPO 0 genome.wustl.edu 37 7 149486303 149486303 + RNA SNP C C A TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 7 149486303 149486303 C A SNP SSPO ENST00000262089 human ensembl 74_37 +1 known rna NULL NULL 0.031 - - - no_errors SSPO HGNC ENSG00000197558 40 0 0 32 2 5.88235 ENSG00000267970 0 genome.wustl.edu 37 7 48887559 48887559 + Missense_Mutation SNP G G A TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 7 48887559 48887559 G A SNP ENSG00000267970 ENST00000596947 human ensembl 74_37 +1 known missense c.59 p.R20Q 0.090 NULL NULL - no_errors AC004899.1 Clone_based_ensembl_gene ENSG00000267970 26 0 0 22 13 37.1429 PON1 0 genome.wustl.edu 37 7 94928393 94928393 + Silent SNP G G A TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 7 94928393 94928393 G A SNP PON1 ENST00000222381 human ensembl 74_37 -1 known silent c.931 p.L311 0.985 NULL pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase,prints_Paraoxonase1 - no_errors PON1 HGNC ENSG00000005421 106 0 0 84 43 33.8583 CSMD3 0 genome.wustl.edu 37 8 113243795 113243795 + Missense_Mutation SNP G G T TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 8 113243795 113243795 G T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.10807 p.Q3603K 1.000 NULL pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 106 0 0 126 15 10.6383 ADAM28 0 genome.wustl.edu 37 8 24207414 24207414 + Missense_Mutation SNP G G A TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 8 24207414 24207414 G A SNP ADAM28 ENST00000397649 human ensembl 74_37 +1 known missense c.1273 p.G425S 0.110 NULL pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM28 HGNC ENSG00000042980 154 0 0 130 48 26.9663 OR1L3 0 genome.wustl.edu 37 9 125437839 125437839 + Missense_Mutation SNP T T C TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 9 125437839 125437839 T C SNP OR1L3 ENST00000304820 human ensembl 74_37 +1 known missense c.431 p.L144P 0.050 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 OR1L3 HGNC ENSG00000171481 242 0 0 86 180 67.6692 MRPL41 0 genome.wustl.edu 37 9 140446797 140446797 + Silent SNP C C T TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 9 140446797 140446797 C T SNP MRPL41 ENST00000371443 human ensembl 74_37 +1 known silent c.264 p.A88 0.360 pfam_Ribosomal_L27/L41_mit pfam_Ribosomal_L27/L41_mit - no_errors MRPL41 HGNC ENSG00000182154 19 0 0 6 8 57.1429 CACNA1B 0 genome.wustl.edu 37 9 140850187 140850187 + Missense_Mutation SNP C C T TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 9 140850187 140850187 C T SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known missense c.1108 p.R370C 1.000 prints_VDCCAlpha1 pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 16 0 0 12 3 20 IFNA10 0 genome.wustl.edu 37 9 21206898 21206898 + Missense_Mutation SNP C C G TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 9 21206898 21206898 C G SNP IFNA10 ENST00000357374 human ensembl 74_37 -1 known missense c.199 p.D67H 0.000 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_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 IFNA10 HGNC ENSG00000186803 151 0 0 51 92 64.3357 ARID1A 0 genome.wustl.edu 37 1 27100199 27100200 + Frame_Shift_Ins INS - - G TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 1 27100199 27100200 - G INS ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_ins c.3995_3996 p.Q1333fs 1.000:1.000 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 72 0 0 81 32 28.3186 ITGAV 0 genome.wustl.edu 37 2 187540409 187540409 + Frame_Shift_Del DEL G G - TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 2 187540409 187540409 G - DEL ITGAV ENST00000261023 human ensembl 74_37 +1 known frame_shift_del c.2785 p.V929fs 0.869 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGAV HGNC ENSG00000138448 125 0 0 62 75 54.7445 BIK 0 genome.wustl.edu 37 22 43525245 43525247 + In_Frame_Del DEL GCT GCT - TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 GCT GCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c 22 43525245 43525247 GCT - DEL BIK ENST00000216115 human ensembl 74_37 +1 known in_frame_del c.417_419 p.L143in_frame_del 0.001:0.000:0.000 pfam_Bcl2-int_killer pfam_Bcl2-int_killer - no_errors BIK HGNC ENSG00000100290 77 0 0 79 5 5.95238