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 EXOSC10 0 genome.wustl.edu 37 1 11140947 11140947 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 1 11140947 11140947 G A SNP EXOSC10 ENST00000376936 human ensembl 74_37 -1 known missense c.1460 p.T487M 0.999 superfamily_RNaseH-like_dom,superfamily_HRDC-like pfam_3'-5'_exonuclease_dom,pfam_Exosome-assoc_fac_Rrp6_N,pfam_HRDC_dom,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_HRDC_dom,pfscan_HRDC_dom - no_errors EXOSC10 HGNC ENSG00000171824 153 0 0 68 38 35.8491 AADACL4 0 genome.wustl.edu 37 1 12726597 12726597 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 1 12726597 12726597 C T SNP AADACL4 ENST00000376221 human ensembl 74_37 +1 known missense c.1075 p.R359C 0.009 pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase - no_errors AADACL4 HGNC ENSG00000204518 164 0 0 155 37 19.2708 TCHHL1 0 genome.wustl.edu 37 1 152059398 152059398 + Nonsense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 1 152059398 152059398 G A SNP TCHHL1 ENST00000368806 human ensembl 74_37 -1 known nonsense c.760 p.Q254* 0.479 NULL pfam_S100_Ca-bd_sub - no_errors TCHHL1 HGNC ENSG00000182898 184 0 0 96 114 54.2857 MSTO1 0 genome.wustl.edu 37 1 155584443 155584443 + RNA SNP A A G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 1 155584443 155584443 A G SNP MSTO1 ENST00000483734 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MSTO1 HGNC ENSG00000125459 13 0 0 26 6 18.75 OR6K3 0 genome.wustl.edu 37 1 158687131 158687131 + Missense_Mutation SNP A A T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 1 158687131 158687131 A T SNP OR6K3 ENST00000368146 human ensembl 74_37 -1 known missense c.823 p.L275M 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K3 HGNC ENSG00000203757 122 0 0 102 31 23.3083 OR6N2 0 genome.wustl.edu 37 1 158746588 158746588 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 1 158746588 158746588 C T SNP OR6N2 ENST00000339258 human ensembl 74_37 -1 known missense c.838 p.V280I 0.998 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 OR6N2 HGNC ENSG00000188340 129 1 0.769231 106 10 8.62069 OR6N2 0 genome.wustl.edu 37 1 158746952 158746952 + Silent SNP A A G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 1 158746952 158746952 A G SNP OR6N2 ENST00000339258 human ensembl 74_37 -1 known silent c.474 p.S158 0.129 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6N2 HGNC ENSG00000188340 77 0 0 102 13 11.3043 OR6N2 0 genome.wustl.edu 37 1 158747263 158747263 + Silent SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 1 158747263 158747263 G A SNP OR6N2 ENST00000339258 human ensembl 74_37 -1 known silent c.163 p.L55 0.938 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6N2 HGNC ENSG00000188340 196 0 0 154 27 14.9171 CDK11A 0 genome.wustl.edu 37 1 1635782 1635782 + Silent SNP C C A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 1 1635782 1635782 C A SNP CDK11A ENST00000404249 human ensembl 74_37 -1 known silent c.1566 p.G522 0.999 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK11A HGNC ENSG00000008128 20 0 0 10 5 33.3333 B3GALT2 0 genome.wustl.edu 37 1 193149667 193149667 + Silent SNP T T C TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 1 193149667 193149667 T C SNP B3GALT2 ENST00000367434 human ensembl 74_37 -1 known silent c.1026 p.V342 0.924 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GALT2 HGNC ENSG00000162630 80 0 0 83 11 11.7021 CFHR5 0 genome.wustl.edu 37 1 196953137 196953137 + Silent SNP A A C TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 1 196953137 196953137 A C SNP CFHR5 ENST00000367414 human ensembl 74_37 +1 known silent c.372 p.S124 0.001 superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR5 HGNC ENSG00000134389 62 0 0 21 7 25 OTUD3 0 genome.wustl.edu 37 1 20234063 20234063 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 1 20234063 20234063 G A SNP OTUD3 ENST00000375120 human ensembl 74_37 +1 known missense c.1021 p.V341I 1.000 NULL pfam_OTU,pfscan_OTU - no_errors OTUD3 HGNC ENSG00000169914 54 0 0 33 22 40 ENSG00000228063 0 genome.wustl.edu 37 1 219347171 219347171 + RNA SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 1 219347171 219347171 G A SNP ENSG00000228063 ENST00000441331 human ensembl 74_37 -1 known rna NULL NULL 0.218 - - - no_errors RP11-135J2.4 Clone_based_vega_gene ENSG00000228063 19 0 0 47 11 18.9655 FMN2 0 genome.wustl.edu 37 1 240555839 240555839 + Missense_Mutation SNP T T G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 1 240555839 240555839 T G SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.4887 p.N1629K 0.628 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 99 0 0 52 7 11.8644 BAI2 0 genome.wustl.edu 37 1 32196483 32196483 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 1 32196483 32196483 C T SNP BAI2 ENST00000373658 human ensembl 74_37 -1 known missense c.4298 p.R1433H 1.000 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_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 BAI2 HGNC ENSG00000121753 85 0 0 55 20 26.6667 ERRFI1 0 genome.wustl.edu 37 1 8074343 8074343 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 1 8074343 8074343 G A SNP ERRFI1 ENST00000377482 human ensembl 74_37 -1 known missense c.316 p.H106Y 0.000 NULL pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6 - no_errors ERRFI1 HGNC ENSG00000116285 261 0 0 151 101 40.0794 GBP6 0 genome.wustl.edu 37 1 89845996 89845996 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 1 89845996 89845996 G A SNP GBP6 ENST00000370456 human ensembl 74_37 +1 known missense c.677 p.R226H 0.014 pfam_Guanylate-bd_N,superfamily_P-loop_NTPase pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP6 HGNC ENSG00000183347 76 0 0 43 18 29.5082 ADARB2 0 genome.wustl.edu 37 10 1405717 1405717 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 10 1405717 1405717 C T SNP ADARB2 ENST00000381312 human ensembl 74_37 -1 known missense c.583 p.A195T 1.000 NULL pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADARB2 HGNC ENSG00000185736 22 0 0 15 5 25 CUL2 0 genome.wustl.edu 37 10 35300856 35300856 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 10 35300856 35300856 G A SNP CUL2 ENST00000537177 human ensembl 74_37 -1 known missense c.2083 p.R695W 1.000 pfam_Cullin_neddylation_domain,smart_Cullin_neddylation_domain 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 CUL2 HGNC ENSG00000108094 26 0 0 8 20 71.4286 RBP3 0 genome.wustl.edu 37 10 48390215 48390215 + Silent SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 10 48390215 48390215 G A SNP RBP3 ENST00000224600 human ensembl 74_37 -1 known silent c.663 p.Y221 0.473 pfam_Interphotoreceptor_retinol-bd,smart_Interphotoreceptor_retinol-bd pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd - no_errors RBP3 HGNC ENSG00000107618 91 0 0 51 10 16.3934 GLUD1P2 0 genome.wustl.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 10 48968566 48968566 A G SNP GLUD1P2 ENST00000594520 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors GLUD1P2 HGNC ENSG00000227781 29 0 0 4 5 55.5556 GDI2 0 genome.wustl.edu 37 10 5808111 5808111 + Missense_Mutation SNP A A C TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 10 5808111 5808111 A C SNP GDI2 ENST00000380132 human ensembl 74_37 -1 known missense c.1208 p.F403C 1.000 pfam_GDP_dissociation_inhibitor,prints_RabGDI pfam_GDP_dissociation_inhibitor,prints_RabGDI,prints_GDP_dissociation_inhibitor - no_errors GDI2 HGNC ENSG00000057608 96 0 0 89 13 12.7451 CTNNA3 0 genome.wustl.edu 37 10 68138997 68138997 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 10 68138997 68138997 G A SNP CTNNA3 ENST00000373744 human ensembl 74_37 -1 known missense c.1645 p.H549Y 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC ENSG00000183230 102 0 0 112 28 20 FRA10AC1 0 genome.wustl.edu 37 10 95441293 95441293 + Nonsense_Mutation SNP G G C TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 10 95441293 95441293 G C SNP FRA10AC1 ENST00000359204 human ensembl 74_37 -1 known nonsense c.731 p.S244* 0.919 NULL pfam_Folate-sensitive_fs_Fra10Ac1 - no_errors FRA10AC1 HGNC ENSG00000148690 44 0 0 7 17 70.8333 GUCY1A2 0 genome.wustl.edu 37 11 106617342 106617342 + Missense_Mutation SNP A A G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 11 106617342 106617342 A G SNP GUCY1A2 ENST00000282249 human ensembl 74_37 -1 known missense c.1864 p.F622L 0.028 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A2 HGNC ENSG00000152402 33 0 0 16 11 40.7407 C11orf52 0 genome.wustl.edu 37 11 111796415 111796415 + Missense_Mutation SNP C C A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 11 111796415 111796415 C A SNP C11orf52 ENST00000278601 human ensembl 74_37 +1 known missense c.109 p.Q37K 0.081 NULL NULL - no_errors C11orf52 HGNC ENSG00000149300 82 0 0 53 3 5.35714 HINFP 0 genome.wustl.edu 37 11 118997700 118997700 + Nonsense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 11 118997700 118997700 C T SNP HINFP ENST00000350777 human ensembl 74_37 +1 known nonsense c.46 p.Q16* 0.992 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HINFP HGNC ENSG00000172273 146 0 0 104 39 27.2727 OR10G9 0 genome.wustl.edu 37 11 123894260 123894260 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 11 123894260 123894260 C T SNP OR10G9 ENST00000375024 human ensembl 74_37 +1 known missense c.541 p.P181S 0.002 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 OR10G9 HGNC ENSG00000236981 324 0 0 348 73 17.3397 SLC22A11 0 genome.wustl.edu 37 11 64329769 64329769 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 11 64329769 64329769 C T SNP SLC22A11 ENST00000301891 human ensembl 74_37 +1 known missense c.683 p.A228V 0.692 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A11 HGNC ENSG00000168065 100 0 0 50 111 68.9441 EIF3F 0 genome.wustl.edu 37 11 8009016 8009016 + Silent SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 11 8009016 8009016 C T SNP EIF3F ENST00000537635 human ensembl 74_37 +1 known silent c.162 p.P54 0.000 NULL pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors EIF3F HGNC ENSG00000175390 67 0 0 70 14 16.6667 FAM181B 0 genome.wustl.edu 37 11 82444684 82444684 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 11 82444684 82444684 C T SNP FAM181B ENST00000329203 human ensembl 74_37 -1 known missense c.88 p.G30R 0.415 NULL NULL - no_errors FAM181B HGNC ENSG00000182103 13 0 0 15 5 25 C12orf49 0 genome.wustl.edu 37 12 117157596 117157596 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 12 117157596 117157596 C T SNP C12orf49 ENST00000261318 human ensembl 74_37 -1 known missense c.506 p.C169Y 1.000 pfam_UPF0454 pfam_UPF0454 - no_errors C12orf49 HGNC ENSG00000111412 75 0 0 42 22 34.375 TAOK3 0 genome.wustl.edu 37 12 118598020 118598020 + Silent SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 12 118598020 118598020 C T SNP TAOK3 ENST00000392533 human ensembl 74_37 -1 known silent c.2283 p.Q761 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TAOK3 HGNC ENSG00000135090 132 1 0.75188 93 11 10.5769 GCN1L1 0 genome.wustl.edu 37 12 120613607 120613607 + Silent SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 12 120613607 120613607 C T SNP GCN1L1 ENST00000300648 human ensembl 74_37 -1 known silent c.984 p.Q328 1.000 superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 34 0 0 34 8 19.0476 LRRC43 0 genome.wustl.edu 37 12 122684793 122684793 + Silent SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 12 122684793 122684793 C T SNP LRRC43 ENST00000339777 human ensembl 74_37 +1 known silent c.1407 p.Y469 0.536 NULL NULL - no_errors LRRC43 HGNC ENSG00000158113 120 0 0 104 24 18.75 ULK1 0 genome.wustl.edu 37 12 132403121 132403121 + Silent SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 12 132403121 132403121 C T SNP ULK1 ENST00000321867 human ensembl 74_37 +1 known silent c.2406 p.L802 0.006 pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK1 HGNC ENSG00000177169 22 0 0 20 4 16.6667 KRAS 0 genome.wustl.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 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 35 0 0 281 17 5.7047 ENSG00000256694 0 genome.wustl.edu 37 12 274553 274553 + RNA SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 12 274553 274553 G A SNP ENSG00000256694 ENST00000540136 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-598F7.5 Clone_based_vega_gene ENSG00000256694 66 0 0 70 26 27.0833 PARP11 0 genome.wustl.edu 37 12 3931156 3931156 + Missense_Mutation SNP T T C TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 12 3931156 3931156 T C SNP PARP11 ENST00000228820 human ensembl 74_37 -1 known missense c.431 p.H144R 0.888 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP11 HGNC ENSG00000111224 111 0 0 44 29 39.726 C12orf40 0 genome.wustl.edu 37 12 40077228 40077228 + Missense_Mutation SNP A A G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 12 40077228 40077228 A G SNP C12orf40 ENST00000324616 human ensembl 74_37 +1 known missense c.1228 p.N410D 0.006 NULL NULL - no_errors C12orf40 HGNC ENSG00000180116 44 0 0 25 6 19.3548 TESPA1 0 genome.wustl.edu 37 12 55356258 55356258 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 12 55356258 55356258 C T SNP TESPA1 ENST00000316577 human ensembl 74_37 -1 known missense c.1424 p.R475Q 0.000 NULL NULL - no_errors TESPA1 HGNC ENSG00000135426 203 0 0 180 47 20.7048 SDR9C7 0 genome.wustl.edu 37 12 57324037 57324037 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 12 57324037 57324037 C T SNP SDR9C7 ENST00000293502 human ensembl 74_37 -1 known missense c.533 p.G178D 1.000 pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors SDR9C7 HGNC ENSG00000170426 152 0 0 117 25 17.6056 ZFC3H1 0 genome.wustl.edu 37 12 72036243 72036243 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 12 72036243 72036243 C T SNP ZFC3H1 ENST00000378743 human ensembl 74_37 -1 known missense c.1600 p.D534N 1.000 NULL pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom - no_errors ZFC3H1 HGNC ENSG00000133858 81 0 0 66 94 58.75 FGD6 0 genome.wustl.edu 37 12 95502125 95502125 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 12 95502125 95502125 C T SNP FGD6 ENST00000343958 human ensembl 74_37 -1 known missense c.3263 p.R1088Q 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD6 HGNC ENSG00000180263 48 0 0 27 16 37.2093 SACS 0 genome.wustl.edu 37 13 23905259 23905259 + Silent SNP A A G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 13 23905259 23905259 A G SNP SACS ENST00000382292 human ensembl 74_37 -1 known silent c.12756 p.S4252 0.981 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 66 0 0 48 18 27.2727 MTUS2 0 genome.wustl.edu 37 13 29855958 29855958 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 13 29855958 29855958 G A SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known missense c.2792 p.R931H 1.000 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 86 0 0 101 14 12.1739 TNFSF11 0 genome.wustl.edu 37 13 43175104 43175104 + Silent SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 13 43175104 43175104 C T SNP TNFSF11 ENST00000239849 human ensembl 74_37 +1 known silent c.519 p.T173 0.099 superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_10/11,pfscan_TNF_dom pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_10/11,pfscan_TNF_dom - no_errors TNFSF11 HGNC ENSG00000120659 94 0 0 58 68 53.9683 ENOX1 0 genome.wustl.edu 37 13 43798201 43798201 + Missense_Mutation SNP C C A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 13 43798201 43798201 C A SNP ENOX1 ENST00000261488 human ensembl 74_37 -1 known missense c.1788 p.Q596H 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ENOX1 HGNC ENSG00000120658 37 0 0 28 11 28.2051 PPP2R5C 0 genome.wustl.edu 37 14 102349794 102349794 + Missense_Mutation SNP A A T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 14 102349794 102349794 A T SNP PPP2R5C ENST00000422945 human ensembl 74_37 +1 known missense c.617 p.D206V 1.000 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5C HGNC ENSG00000078304 141 0 0 85 29 25.4386 DIO2 0 genome.wustl.edu 37 14 80669580 80669580 + Missense_Mutation SNP T T C TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 14 80669580 80669580 T C SNP DIO2 ENST00000422005 human ensembl 74_37 -1 known missense c.274 p.T92A 0.000 pfam_Iodothyronine_deiodinase pfam_Iodothyronine_deiodinase - no_errors DIO2 HGNC ENSG00000211448 20 0 0 24 3 11.1111 SPATA7 0 genome.wustl.edu 37 14 88904415 88904415 + Missense_Mutation SNP G G T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 14 88904415 88904415 G T SNP SPATA7 ENST00000393545 human ensembl 74_37 +1 known missense c.1449 p.E483D 0.011 NULL NULL - no_errors SPATA7 HGNC ENSG00000042317 74 0 0 21 37 63.7931 GPR68 0 genome.wustl.edu 37 14 91700984 91700984 + Silent SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 14 91700984 91700984 C T SNP GPR68 ENST00000238699 human ensembl 74_37 -1 known silent c.441 p.A147 0.954 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_OGR1_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_OGR1_rcpt,prints_GPCR_Rhodpsn,prints_Psych_rcpt - no_errors GPR68 HGNC ENSG00000119714 29 0 0 11 27 71.0526 SLC24A4 0 genome.wustl.edu 37 14 92949146 92949146 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 14 92949146 92949146 G A SNP SLC24A4 ENST00000532405 human ensembl 74_37 +1 known missense c.1378 p.A460T 0.998 tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A4 HGNC ENSG00000140090 95 0 0 91 20 18.018 ADAMTS17 0 genome.wustl.edu 37 15 100657064 100657064 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 15 100657064 100657064 C T SNP ADAMTS17 ENST00000268070 human ensembl 74_37 -1 known missense c.1876 p.V626M 1.000 NULL pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS17 HGNC ENSG00000140470 83 0 0 62 12 16.2162 ADAMTS17 0 genome.wustl.edu 37 15 100695514 100695514 + Missense_Mutation SNP T T G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 15 100695514 100695514 T G SNP ADAMTS17 ENST00000268070 human ensembl 74_37 -1 known missense c.1193 p.N398T 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS17 HGNC ENSG00000140470 25 0 0 20 10 33.3333 RYR3 0 genome.wustl.edu 37 15 34072507 34072507 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 15 34072507 34072507 C T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.9233 p.S3078L 1.000 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 38 0 0 11 32 74.4186 PML 0 genome.wustl.edu 37 15 74315474 74315474 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 15 74315474 74315474 C T SNP PML ENST00000268058 human ensembl 74_37 +1 known missense c.908 p.A303V 0.000 pfam_DUF3583 pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC ENSG00000140464 45 0 0 19 33 63.4615 SMG1 0 genome.wustl.edu 37 16 18827647 18827647 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 16 18827647 18827647 G A SNP SMG1 ENST00000389467 human ensembl 74_37 -1 known missense c.10282 p.H3428Y 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 40 0 0 26 8 23.5294 ACSM2A 0 genome.wustl.edu 37 16 20497994 20497994 + Silent SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 16 20497994 20497994 G A SNP ACSM2A ENST00000219054 human ensembl 74_37 +1 known silent c.1728 p.A576 0.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSM2A HGNC ENSG00000183747 198 0 0 73 107 59.4444 SLC5A11 0 genome.wustl.edu 37 16 24922747 24922747 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 16 24922747 24922747 G A SNP SLC5A11 ENST00000347898 human ensembl 74_37 +1 known missense c.1921 p.A641T 0.000 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A11 HGNC ENSG00000158865 247 0 0 86 150 63.5593 TMEM8A 0 genome.wustl.edu 37 16 426761 426761 + Silent SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 16 426761 426761 G A SNP TMEM8A ENST00000431232 human ensembl 74_37 -1 known silent c.687 p.C229 0.682 NULL pfam_DUF3522,pfscan_EG-like_dom - no_errors TMEM8A HGNC ENSG00000129925 41 0 0 35 3 7.89474 NFAT5 0 genome.wustl.edu 37 16 69727007 69727007 + Missense_Mutation SNP A A C TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 16 69727007 69727007 A C SNP NFAT5 ENST00000432919 human ensembl 74_37 +1 known missense c.3279 p.Q1093H 0.074 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFAT5 HGNC ENSG00000102908 167 0 0 101 43 29.8611 SUPT6H 0 genome.wustl.edu 37 17 27024707 27024707 + Missense_Mutation SNP C C G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 17 27024707 27024707 C G SNP SUPT6H ENST00000314616 human ensembl 74_37 +1 known missense c.4279 p.L1427V 1.000 pirsf_TF_Spt6,pfscan_SH2 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 61 0 0 39 23 37.0968 LRRC37BP1 0 genome.wustl.edu 37 17 28964385 28964385 + RNA SNP G G T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 17 28964385 28964385 G T SNP LRRC37BP1 ENST00000417404 human ensembl 74_37 +1 known rna NULL NULL 0.018 - - - no_errors LRRC37BP1 HGNC ENSG00000250462 21 0 0 11 4 26.6667 PPM1D 0 genome.wustl.edu 37 17 58701061 58701061 + Missense_Mutation SNP A A G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 17 58701061 58701061 A G SNP PPM1D ENST00000305921 human ensembl 74_37 +1 known missense c.652 p.K218E 1.000 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1D HGNC ENSG00000170836 115 0 0 96 19 16.5217 SCN4A 0 genome.wustl.edu 37 17 62018998 62018998 + Silent SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 17 62018998 62018998 G A SNP SCN4A ENST00000435607 human ensembl 74_37 -1 known silent c.4644 p.S1548 0.973 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 41 0 0 32 20 38.4615 PTPN2 0 genome.wustl.edu 37 18 12884110 12884110 + Missense_Mutation SNP C C G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 18 12884110 12884110 C G SNP PTPN2 ENST00000309660 human ensembl 74_37 -1 known missense c.31 p.E11Q 0.971 pirsf_Ptpn1/Ptpn2,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Ptpn1/Ptpn2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN2 HGNC ENSG00000175354 11 0 0 9 2 18.1818 POTEC 0 genome.wustl.edu 37 18 14543140 14543140 + Silent SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 18 14543140 14543140 C T SNP POTEC ENST00000358970 human ensembl 74_37 -1 known silent c.6 p.V2 0.003 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 POTEC HGNC ENSG00000183206 129 0 0 106 13 10.9244 EPB41L3 0 genome.wustl.edu 37 18 5397280 5397280 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 18 5397280 5397280 G A SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known missense c.2618 p.S873L 0.000 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 130 0 0 84 26 23.6364 RNF152 0 genome.wustl.edu 37 18 59483133 59483133 + Silent SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 18 59483133 59483133 G A SNP RNF152 ENST00000312828 human ensembl 74_37 -1 known silent c.564 p.H188 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF152 HGNC ENSG00000176641 129 0 0 98 21 17.6471 TSHZ1 0 genome.wustl.edu 37 18 72997563 72997563 + Silent SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 18 72997563 72997563 G A SNP TSHZ1 ENST00000580243 human ensembl 74_37 +1 known silent c.201 p.A67 0.989 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ1 HGNC ENSG00000179981 49 0 0 49 6 10.9091 C19orf26 0 genome.wustl.edu 37 19 1231232 1231232 + Missense_Mutation SNP C C G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 19 1231232 1231232 C G SNP C19orf26 ENST00000382477 human ensembl 74_37 -1 known missense c.1082 p.S361T 1.000 NULL NULL - no_errors C19orf26 HGNC ENSG00000099625 89 0 0 88 11 11.1111 CPAMD8 0 genome.wustl.edu 37 19 17068679 17068679 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 19 17068679 17068679 G A SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known missense c.2401 p.H801Y 1.000 pfam_Macroglobln_a2 pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom - no_errors CPAMD8 HGNC ENSG00000160111 303 0 0 195 61 23.8281 NCAN 0 genome.wustl.edu 37 19 19359647 19359647 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 19 19359647 19359647 G A SNP NCAN ENST00000252575 human ensembl 74_37 +1 known missense c.3776 p.R1259Q 0.897 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link,prints_AntifreezeII - no_errors NCAN HGNC ENSG00000130287 77 0 0 84 10 10.6383 ATP4A 0 genome.wustl.edu 37 19 36051409 36051409 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 19 36051409 36051409 G A SNP ATP4A ENST00000262623 human ensembl 74_37 -1 known missense c.643 p.R215C 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP4A HGNC ENSG00000105675 81 0 0 38 55 59.1398 CYP2S1 0 genome.wustl.edu 37 19 41712326 41712326 + Missense_Mutation SNP A A G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 19 41712326 41712326 A G SNP CYP2S1 ENST00000310054 human ensembl 74_37 +1 known missense c.1448 p.N483S 0.999 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450_B - no_errors CYP2S1 HGNC ENSG00000167600 191 0 0 69 121 63.6842 PSG3 0 genome.wustl.edu 37 19 43233295 43233295 + Missense_Mutation SNP G G T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 19 43233295 43233295 G T SNP PSG3 ENST00000327495 human ensembl 74_37 -1 known missense c.1223 p.S408Y 0.001 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 PSG3 HGNC ENSG00000221826 267 0 0 260 41 13.6213 SLC8A2 0 genome.wustl.edu 37 19 47933453 47933453 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 19 47933453 47933453 C T SNP SLC8A2 ENST00000236877 human ensembl 74_37 -1 known missense c.2659 p.G887S 1.000 pfam_NaCa_Exmemb,tigrfam_Na_Ca_Ex pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A2 HGNC ENSG00000118160 22 0 0 24 3 11.1111 THSD7B 0 genome.wustl.edu 37 2 137928482 137928482 + Missense_Mutation SNP T T C TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 2 137928482 137928482 T C SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known missense c.1697 p.L566P 0.975 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 50 0 0 39 23 37.0968 GALNT13 0 genome.wustl.edu 37 2 155295200 155295200 + Missense_Mutation SNP C C A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 2 155295200 155295200 C A SNP GALNT13 ENST00000409237 human ensembl 74_37 +1 known missense c.1492 p.H498N 1.000 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT13 HGNC ENSG00000144278 88 0 0 55 4 6.77966 XIRP2 0 genome.wustl.edu 37 2 167760210 167760210 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 2 167760210 167760210 C T SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.218 p.S73L 0.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 63 0 0 80 21 20.7921 OSBPL6 0 genome.wustl.edu 37 2 179247234 179247234 + Missense_Mutation SNP A A C TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 2 179247234 179247234 A C SNP OSBPL6 ENST00000315022 human ensembl 74_37 +1 known missense c.1633 p.I545L 1.000 NULL pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL6 HGNC ENSG00000079156 42 0 0 24 3 11.1111 TTN 0 genome.wustl.edu 37 2 179585348 179585348 + Missense_Mutation SNP A A G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 2 179585348 179585348 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.19409 p.L6470P 1.000 pfam_Ig_I-set,pfam_Ig_V-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 30 0 0 14 7 33.3333 NT5C1B 0 genome.wustl.edu 37 2 18766140 18766140 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 2 18766140 18766140 C T SNP NT5C1B ENST00000406971 human ensembl 74_37 -1 known missense c.296 p.R99H 0.000 NULL NULL - no_errors NT5C1B HGNC ENSG00000185013 17 0 0 24 5 17.2414 ERBB4 0 genome.wustl.edu 37 2 212522548 212522548 + Missense_Mutation SNP T T G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 2 212522548 212522548 T G SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.1877 p.N626T 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 81 0 0 86 17 16.5049 PECR 0 genome.wustl.edu 37 2 216946474 216946474 + RNA SNP G G T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 2 216946474 216946474 G T SNP PECR ENST00000487318 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PECR HGNC ENSG00000115425 28 0 0 29 3 9.375 PID1 0 genome.wustl.edu 37 2 229890648 229890648 + Missense_Mutation SNP T T A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 2 229890648 229890648 T A SNP PID1 ENST00000354069 human ensembl 74_37 -1 known missense c.453 p.K151N 1.000 smart_PTB/PI_dom pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors PID1 HGNC ENSG00000153823 101 0 0 94 20 17.5439 SLC5A6 0 genome.wustl.edu 37 2 27427688 27427688 + Silent SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 2 27427688 27427688 G A SNP SLC5A6 ENST00000310574 human ensembl 74_37 -1 known silent c.846 p.L282 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A6 HGNC ENSG00000138074 65 0 0 80 16 16.6667 BIRC6 0 genome.wustl.edu 37 2 32670603 32670603 + Missense_Mutation SNP T T C TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 2 32670603 32670603 T C SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known missense c.4351 p.Y1451H 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 50 0 0 26 28 51.8519 FAM98A 0 genome.wustl.edu 37 2 33810313 33810313 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 2 33810313 33810313 G A SNP FAM98A ENST00000238823 human ensembl 74_37 -1 known missense c.1087 p.R363C 0.997 NULL pfam_Uncharacterised_FAM98 - no_errors FAM98A HGNC ENSG00000119812 149 0 0 110 66 37.5 SLC4A5 0 genome.wustl.edu 37 2 74460534 74460534 + Missense_Mutation SNP G G T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 2 74460534 74460534 G T SNP SLC4A5 ENST00000357822 human ensembl 74_37 -1 known missense c.2590 p.L864M 1.000 pfam_HCO3_transpt_C,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A5 HGNC ENSG00000188687 101 0 0 82 13 13.6842 SMYD1 0 genome.wustl.edu 37 2 88405935 88405935 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 2 88405935 88405935 C T SNP SMYD1 ENST00000419482 human ensembl 74_37 +1 known missense c.1073 p.S358L 0.511 NULL pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD1 HGNC ENSG00000115593 80 0 0 76 13 14.6067 SNPH 0 genome.wustl.edu 37 20 1277819 1277819 + Missense_Mutation SNP T T A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 20 1277819 1277819 T A SNP SNPH ENST00000381867 human ensembl 74_37 +1 known missense c.213 p.D71E 0.996 NULL NULL - no_errors SNPH HGNC ENSG00000101298 44 0 0 58 22 27.5 KIF16B 0 genome.wustl.edu 37 20 16359862 16359862 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 20 16359862 16359862 C T SNP KIF16B ENST00000408042 human ensembl 74_37 -1 known missense c.2785 p.E929K 0.941 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF16B HGNC ENSG00000089177 121 0 0 184 36 16.3636 C20orf194 0 genome.wustl.edu 37 20 3262288 3262288 + Nonsense_Mutation SNP T T A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 20 3262288 3262288 T A SNP C20orf194 ENST00000252032 human ensembl 74_37 -1 known nonsense c.2611 p.R871* 1.000 NULL NULL - no_errors C20orf194 HGNC ENSG00000088854 89 0 0 143 20 12.2699 TGIF2 0 genome.wustl.edu 37 20 35207182 35207182 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 20 35207182 35207182 C T SNP TGIF2 ENST00000373872 human ensembl 74_37 +1 known missense c.5 p.S2L 1.000 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors TGIF2 HGNC ENSG00000118707 110 0 0 191 43 18.3761 SLC32A1 0 genome.wustl.edu 37 20 37357184 37357184 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 20 37357184 37357184 G A SNP SLC32A1 ENST00000217420 human ensembl 74_37 +1 known missense c.1480 p.V494I 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC32A1 HGNC ENSG00000101438 37 0 0 81 12 12.9032 MAVS 0 genome.wustl.edu 37 20 3846340 3846340 + Missense_Mutation SNP C C G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 20 3846340 3846340 C G SNP MAVS ENST00000428216 human ensembl 74_37 +1 known missense c.1169 p.A390G 0.000 NULL NULL - no_errors MAVS HGNC ENSG00000088888 18 0 0 39 7 15.2174 RBM38 0 genome.wustl.edu 37 20 55982810 55982810 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 20 55982810 55982810 G A SNP RBM38 ENST00000356208 human ensembl 74_37 +1 known missense c.628 p.A210T 0.045 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM38 HGNC ENSG00000132819 24 0 0 45 7 13.4615 COL9A3 0 genome.wustl.edu 37 20 61468510 61468510 + Missense_Mutation SNP G G C TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 20 61468510 61468510 G C SNP COL9A3 ENST00000343916 human ensembl 74_37 +1 known missense c.1679 p.G560A 0.999 pfam_Collagen pfam_Collagen - no_errors COL9A3 HGNC ENSG00000092758 212 0 0 330 140 29.7872 SERHL2 0 genome.wustl.edu 37 22 42970032 42970032 + Missense_Mutation SNP T T C TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 22 42970032 42970032 T C SNP SERHL2 ENST00000327678 human ensembl 74_37 +1 known missense c.916 p.C306R 0.001 NULL pfam_AB_hydrolase_1,prints_AB_hydrolase_1 - no_errors SERHL2 HGNC ENSG00000183569 69 0 0 33 4 10.8108 FBLN1 0 genome.wustl.edu 37 22 45937242 45937242 + Silent SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 22 45937242 45937242 G A SNP FBLN1 ENST00000327858 human ensembl 74_37 +1 known silent c.1056 p.T352 0.004 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Fibulin-1 pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,smart_Anaphylatoxin/fibulin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_Fibulin-1,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN1 HGNC ENSG00000077942 65 0 0 43 8 15.6863 MIOX 0 genome.wustl.edu 37 22 50927478 50927478 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 22 50927478 50927478 G A SNP MIOX ENST00000216075 human ensembl 74_37 +1 known missense c.418 p.V140I 0.992 pfam_Inositol_oxygenase pfam_Inositol_oxygenase - no_errors MIOX HGNC ENSG00000100253 38 0 0 15 22 59.4595 UROC1 0 genome.wustl.edu 37 3 126224579 126224579 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 3 126224579 126224579 C T SNP UROC1 ENST00000290868 human ensembl 74_37 -1 known missense c.778 p.A260T 0.835 pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase - no_errors UROC1 HGNC ENSG00000159650 62 0 0 57 13 18.5714 TMEM40 0 genome.wustl.edu 37 3 12778267 12778267 + Silent SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 3 12778267 12778267 G A SNP TMEM40 ENST00000431022 human ensembl 74_37 -1 known silent c.588 p.Y196 0.005 NULL NULL - no_errors TMEM40 HGNC ENSG00000088726 174 0 0 94 31 24.8 C3orf20 0 genome.wustl.edu 37 3 14770029 14770029 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 3 14770029 14770029 C T SNP C3orf20 ENST00000253697 human ensembl 74_37 +1 known missense c.1774 p.R592W 0.000 NULL NULL - no_errors C3orf20 HGNC ENSG00000131379 74 0 0 45 21 31.8182 DHX36 0 genome.wustl.edu 37 3 154013119 154013119 + Nonsense_Mutation SNP A A T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 3 154013119 154013119 A T SNP DHX36 ENST00000496811 human ensembl 74_37 -1 known nonsense c.1559 p.L520* 0.999 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX36 HGNC ENSG00000174953 28 0 0 6 3 33.3333 LRRC31 0 genome.wustl.edu 37 3 169565929 169565929 + Missense_Mutation SNP T T G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 3 169565929 169565929 T G SNP LRRC31 ENST00000316428 human ensembl 74_37 -1 known missense c.1306 p.T436P 0.939 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC31 HGNC ENSG00000114248 90 0 0 105 6 5.40541 KCNMB2 0 genome.wustl.edu 37 3 178560469 178560469 + Missense_Mutation SNP A A T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 3 178560469 178560469 A T SNP KCNMB2 ENST00000358316 human ensembl 74_37 +1 known missense c.452 p.N151I 1.000 pfam_K_chnl_Ca-activ_BK_bsu pfam_K_chnl_Ca-activ_BK_bsu,pfam_KCNMB2_ball_chain_dom,prints_K_chnl_Ca-activ_BK_bsu - no_errors KCNMB2 HGNC ENSG00000197584 99 0 0 71 12 14.4578 MUC4 0 genome.wustl.edu 37 3 195505836 195505836 + Missense_Mutation SNP G G C TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 3 195505836 195505836 G C SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.12615 p.H4205Q 0.981 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 9 0 0 9 3 25 WDR48 0 genome.wustl.edu 37 3 39136357 39136357 + RNA SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 3 39136357 39136357 G A SNP WDR48 ENST00000466405 human ensembl 74_37 +1 known rna NULL NULL 0.992 - - - no_errors WDR48 HGNC ENSG00000114742 36 0 0 22 7 24.1379 ANO10 0 genome.wustl.edu 37 3 43408442 43408442 + Missense_Mutation SNP G G C TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 3 43408442 43408442 G C SNP ANO10 ENST00000292246 human ensembl 74_37 -1 known missense c.1939 p.L647V 0.996 NULL pfam_Anoctamin - no_errors ANO10 HGNC ENSG00000160746 18 0 0 9 4 30.7692 ROBO2 0 genome.wustl.edu 37 3 77657047 77657047 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 3 77657047 77657047 G A SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known missense c.3235 p.V1079I 0.984 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,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 ROBO2 HGNC ENSG00000185008 43 0 0 36 28 43.75 TRAM1L1 0 genome.wustl.edu 37 4 118005573 118005573 + Missense_Mutation SNP T T C TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 4 118005573 118005573 T C SNP TRAM1L1 ENST00000310754 human ensembl 74_37 -1 known missense c.977 p.D326G 0.101 smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom - no_errors TRAM1L1 HGNC ENSG00000174599 161 0 0 121 23 15.9722 FAT4 0 genome.wustl.edu 37 4 126240675 126240675 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 4 126240675 126240675 G A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.3109 p.E1037K 1.000 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_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 155 0 0 94 18 16.0714 MAP9 0 genome.wustl.edu 37 4 156277001 156277001 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 4 156277001 156277001 G A SNP MAP9 ENST00000311277 human ensembl 74_37 -1 known missense c.1157 p.S386F 0.036 NULL NULL - no_errors MAP9 HGNC ENSG00000164114 31 0 0 10 19 65.5172 HSP90AA4P 0 genome.wustl.edu 37 4 190394342 190394342 + RNA SNP A A G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 4 190394342 190394342 A G SNP HSP90AA4P ENST00000378770 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HSP90AA4P HGNC ENSG00000205100 44 0 0 14 22 61.1111 GNPDA2 0 genome.wustl.edu 37 4 44720403 44720403 + Missense_Mutation SNP T T C TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 4 44720403 44720403 T C SNP GNPDA2 ENST00000295448 human ensembl 74_37 -1 known missense c.149 p.K50R 1.000 pfam_Glc/Gal-6P_isomerase,tigrfam_Glucosamine6P_isomerase pfam_Glc/Gal-6P_isomerase,tigrfam_Glucosamine6P_isomerase - no_errors GNPDA2 HGNC ENSG00000163281 63 0 0 13 14 51.8519 DRD5 0 genome.wustl.edu 37 4 9783718 9783718 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 4 9783718 9783718 C T SNP DRD5 ENST00000304374 human ensembl 74_37 +1 known missense c.65 p.A22V 0.261 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Dopamine_D5_rcpt,prints_Dopamine_rcpt - no_errors DRD5 HGNC ENSG00000169676 15 0 0 12 3 20 SLCO4C1 0 genome.wustl.edu 37 5 101597686 101597686 + Silent SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 5 101597686 101597686 C T SNP SLCO4C1 ENST00000310954 human ensembl 74_37 -1 known silent c.951 p.G317 0.996 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO4C1 HGNC ENSG00000173930 65 0 0 36 7 16.2791 SPOCK1 0 genome.wustl.edu 37 5 136324212 136324212 + Missense_Mutation SNP T T A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 5 136324212 136324212 T A SNP SPOCK1 ENST00000282223 human ensembl 74_37 -1 known missense c.827 p.K276M 1.000 pfam_SPARC/Testican_Ca-bd-dom pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SPOCK1 HGNC ENSG00000152377 113 0 0 68 39 36.4486 PCDHB3 0 genome.wustl.edu 37 5 140481830 140481830 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 5 140481830 140481830 G A SNP PCDHB3 ENST00000231130 human ensembl 74_37 +1 known missense c.1597 p.A533T 0.997 pfam_Cadherin,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 PCDHB3 HGNC ENSG00000113205 152 0 0 128 29 18.4713 PCDHB8 0 genome.wustl.edu 37 5 140558215 140558215 + Silent SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 5 140558215 140558215 G A SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known silent c.600 p.A200 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC ENSG00000120322 178 0 0 126 12 8.69565 PCDHGA8 0 genome.wustl.edu 37 5 140774731 140774731 + Missense_Mutation SNP G G T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 5 140774731 140774731 G T SNP PCDHGA8 ENST00000398604 human ensembl 74_37 +1 known missense c.2351 p.G784V 0.998 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA8 HGNC ENSG00000253767 108 0 0 59 18 23.3766 ADRB2 0 genome.wustl.edu 37 5 148206648 148206648 + Missense_Mutation SNP C C A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 5 148206648 148206648 C A SNP ADRB2 ENST00000305988 human ensembl 74_37 +1 known missense c.254 p.A85E 0.839 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRB2_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRB2 HGNC ENSG00000169252 75 0 0 47 13 21.6667 ARSI 0 genome.wustl.edu 37 5 149677830 149677830 + Silent SNP G G T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 5 149677830 149677830 G T SNP ARSI ENST00000328668 human ensembl 74_37 -1 known silent c.657 p.I219 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSI HGNC ENSG00000183876 40 0 0 26 16 38.0952 SOX30 0 genome.wustl.edu 37 5 157073789 157073789 + Nonsense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 5 157073789 157073789 G A SNP SOX30 ENST00000265007 human ensembl 74_37 -1 known nonsense c.1243 p.R415* 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX30 HGNC ENSG00000039600 108 0 0 55 17 23.6111 IRX2 0 genome.wustl.edu 37 5 2748985 2748985 + Silent SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 5 2748985 2748985 C T SNP IRX2 ENST00000302057 human ensembl 74_37 -1 known silent c.837 p.P279 0.142 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX2 HGNC ENSG00000170561 17 0 0 10 7 41.1765 NNT 0 genome.wustl.edu 37 5 43609403 43609403 + Missense_Mutation SNP T T G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 5 43609403 43609403 T G SNP NNT ENST00000264663 human ensembl 74_37 +1 known missense c.106 p.F36V 0.998 NULL pfam_NADH_DH_b,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N,tigrfam_NADP_transhyd_a - no_errors NNT HGNC ENSG00000112992 55 0 0 52 4 7.14286 ITGA1 0 genome.wustl.edu 37 5 52145263 52145263 + Silent SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 5 52145263 52145263 G A SNP ITGA1 ENST00000282588 human ensembl 74_37 +1 known silent c.126 p.P42 0.794 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA1 HGNC ENSG00000213949 79 0 0 30 14 31.8182 ADAMTS16 0 genome.wustl.edu 37 5 5237162 5237162 + Missense_Mutation SNP A A C TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 5 5237162 5237162 A C SNP ADAMTS16 ENST00000274181 human ensembl 74_37 +1 known missense c.2104 p.T702P 1.000 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 77 0 0 40 11 21.5686 PDE8B 0 genome.wustl.edu 37 5 76717658 76717658 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 5 76717658 76717658 G A SNP PDE8B ENST00000264917 human ensembl 74_37 +1 known missense c.2263 p.D755N 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,pfam_PDEase_PDE8,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,pfam_PAS_fold_3,superfamily_PAS,superfamily_CheY-like_superfamily,smart_PAS,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS - no_errors PDE8B HGNC ENSG00000113231 32 0 0 23 11 32.3529 ROS1 0 genome.wustl.edu 37 6 117632202 117632202 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 6 117632202 117632202 G A SNP ROS1 ENST00000368508 human ensembl 74_37 -1 known missense c.6214 p.R2072W 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 91 0 0 34 6 15 IFNGR1 0 genome.wustl.edu 37 6 137525611 137525611 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 6 137525611 137525611 C T SNP IFNGR1 ENST00000367739 human ensembl 74_37 -1 known missense c.404 p.R135K 0.000 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3 pfam_Interferon_gamma_pox/mammal,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,prints_Interferon_gamma_rcpt_asu - no_errors IFNGR1 HGNC ENSG00000027697 74 0 0 34 8 19.0476 HIST1H3A 0 genome.wustl.edu 37 6 26021060 26021060 + Missense_Mutation SNP G G T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 6 26021060 26021060 G T SNP HIST1H3A ENST00000357647 human ensembl 74_37 +1 known missense c.343 p.A115S 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3A HGNC ENSG00000198366 68 0 0 34 38 52.7778 BTN2A2 0 genome.wustl.edu 37 6 26388520 26388520 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 6 26388520 26388520 C T SNP BTN2A2 ENST00000356709 human ensembl 74_37 +1 known missense c.722 p.P241L 0.999 NULL pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTN2A2 HGNC ENSG00000124508 198 0 0 260 37 12.4579 BTN3A1 0 genome.wustl.edu 37 6 26413839 26413839 + Silent SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 6 26413839 26413839 C T SNP BTN3A1 ENST00000289361 human ensembl 74_37 +1 known silent c.1461 p.D487 0.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTN3A1 HGNC ENSG00000026950 117 0 0 171 22 11.399 HIST1H2BJ 0 genome.wustl.edu 37 6 27100278 27100278 + Silent SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 6 27100278 27100278 G A SNP HIST1H2BJ ENST00000339812 human ensembl 74_37 -1 known silent c.252 p.Y84 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BJ HGNC ENSG00000124635 172 0 0 187 42 18.3406 HIST1H2AL 0 genome.wustl.edu 37 6 27833333 27833333 + Silent SNP G G T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 6 27833333 27833333 G T SNP HIST1H2AL ENST00000357320 human ensembl 74_37 +1 known silent c.201 p.A67 0.989 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AL HGNC ENSG00000198374 170 0 0 220 32 12.6984 HLA-G 0 genome.wustl.edu 37 6 29795926 29795926 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 6 29795926 29795926 G A SNP HLA-G ENST00000376828 human ensembl 74_37 +1 known missense c.191 p.R64Q 0.997 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-G HGNC ENSG00000204632 39 0 0 40 15 27.2727 CFB 0 genome.wustl.edu 37 6 31914819 31914819 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 6 31914819 31914819 G A SNP CFB ENST00000556679 human ensembl 74_37 +1 known missense c.1840 p.G614R 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Peptidase_S1,pfam_VWF_A,pfam_Sushi_SCR_CCP,superfamily_Trypsin-like_Pept_dom,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_VWF_A,smart_Peptidase_S1,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors CFB HGNC ENSG00000243649 81 0 0 113 8 6.61157 TNXB 0 genome.wustl.edu 37 6 32065659 32065659 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 6 32065659 32065659 C T SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.317 p.R106H 0.987 NULL pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 28 0 0 44 7 13.7255 DNAH8 0 genome.wustl.edu 37 6 38816548 38816548 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 6 38816548 38816548 G A SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.4519 p.G1507S 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 112 0 0 57 41 41.8367 FHL5 0 genome.wustl.edu 37 6 97052643 97052643 + Silent SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 6 97052643 97052643 C T SNP FHL5 ENST00000326771 human ensembl 74_37 +1 known silent c.177 p.D59 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FHL5 HGNC ENSG00000112214 67 0 0 56 9 13.8462 PPP1R3A 0 genome.wustl.edu 37 7 113522369 113522369 + Missense_Mutation SNP T T G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 7 113522369 113522369 T G SNP PPP1R3A ENST00000284601 human ensembl 74_37 -1 known missense c.789 p.E263D 1.000 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 34 0 0 13 6 31.5789 MIR490 0 genome.wustl.edu 37 7 136587945 136587945 + RNA SNP T T G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 7 136587945 136587945 T G SNP MIR490 ENST00000384865 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR490 HGNC ENSG00000207597 138 0 0 118 31 20.8054 PTN 0 genome.wustl.edu 37 7 136938369 136938369 + Missense_Mutation SNP T T G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 7 136938369 136938369 T G SNP PTN ENST00000348225 human ensembl 74_37 -1 known missense c.131 p.K44T 1.000 pfam_PTN/MK_N_dom,superfamily_PTN/MK_diS pfam_PTN/MK_C_dom,pfam_PTN/MK_N_dom,superfamily_PTN/MK_diS,smart_Midkine_heparin-bd_GF,prints_Midkine_heparin-bd_GF - no_errors PTN HGNC ENSG00000105894 32 0 0 40 12 23.0769 TAS2R4 0 genome.wustl.edu 37 7 141478666 141478666 + Silent SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 7 141478666 141478666 C T SNP TAS2R4 ENST00000247881 human ensembl 74_37 +1 known silent c.378 p.S126 0.019 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R4 HGNC ENSG00000127364 204 0 0 232 25 9.72763 DGKB 0 genome.wustl.edu 37 7 14378334 14378334 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 7 14378334 14378334 C T SNP DGKB ENST00000258767 human ensembl 74_37 -1 known missense c.1931 p.C644Y 1.000 pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKB HGNC ENSG00000136267 42 0 0 31 7 18.4211 SSPO 0 genome.wustl.edu 37 7 149485454 149485454 + RNA SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 7 149485454 149485454 C T SNP SSPO ENST00000262089 human ensembl 74_37 +1 known rna NULL NULL 0.392 - - - no_errors SSPO HGNC ENSG00000197558 60 0 0 48 18 27.2727 DPP6 0 genome.wustl.edu 37 7 154585896 154585896 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 7 154585896 154585896 C T SNP DPP6 ENST00000377770 human ensembl 74_37 +1 known missense c.1244 p.T415M 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC ENSG00000130226 21 0 0 26 11 29.7297 RNF32 0 genome.wustl.edu 37 7 156468398 156468398 + Missense_Mutation SNP A A C TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 7 156468398 156468398 A C SNP RNF32 ENST00000317955 human ensembl 74_37 +1 known missense c.693 p.E231D 0.880 NULL pfam_Znf_C3HC4_RING-type,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Znf_RING,pfscan_IQ_motif_EF-hand-BS,pfscan_Znf_RING - no_errors RNF32 HGNC ENSG00000105982 79 0 0 72 31 30.0971 CARD11 0 genome.wustl.edu 37 7 2962952 2962952 + Silent SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 7 2962952 2962952 C T SNP CARD11 ENST00000396946 human ensembl 74_37 -1 known silent c.1956 p.S652 0.886 superfamily_PDZ pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 70 0 0 62 25 28.7356 AVL9 0 genome.wustl.edu 37 7 32598846 32598846 + Missense_Mutation SNP A A C TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 7 32598846 32598846 A C SNP AVL9 ENST00000404479 human ensembl 74_37 +1 known missense c.985 p.S329R 1.000 pfam_ABL9/DENND6_dom pfam_ABL9/DENND6_dom,pfam_DUF2347 - no_errors AVL9 HGNC ENSG00000105778 82 0 0 63 38 37.6238 BBS9 0 genome.wustl.edu 37 7 33376157 33376157 + Missense_Mutation SNP G G T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 7 33376157 33376157 G T SNP BBS9 ENST00000242067 human ensembl 74_37 +1 known missense c.1121 p.R374L 1.000 NULL NULL - no_errors BBS9 HGNC ENSG00000122507 36 0 0 23 4 14.8148 URGCP 0 genome.wustl.edu 37 7 43918102 43918102 + Silent SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 7 43918102 43918102 G A SNP URGCP ENST00000453200 human ensembl 74_37 -1 known silent c.960 p.S320 0.992 NULL superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors URGCP HGNC ENSG00000106608 89 0 0 74 41 35.6522 C7orf57 0 genome.wustl.edu 37 7 48081095 48081095 + Missense_Mutation SNP G G T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 7 48081095 48081095 G T SNP C7orf57 ENST00000348904 human ensembl 74_37 +1 known missense c.220 p.A74S 0.880 NULL NULL - no_errors C7orf57 HGNC ENSG00000164746 22 0 0 35 3 7.89474 CLIP2 0 genome.wustl.edu 37 7 73753054 73753054 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 7 73753054 73753054 C T SNP CLIP2 ENST00000223398 human ensembl 74_37 +1 known missense c.398 p.P133L 1.000 pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain - no_errors CLIP2 HGNC ENSG00000106665 16 0 0 20 4 16.6667 GNAT3 0 genome.wustl.edu 37 7 80108223 80108223 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 7 80108223 80108223 C T SNP GNAT3 ENST00000398291 human ensembl 74_37 -1 known missense c.395 p.R132K 0.160 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,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 GNAT3 HGNC ENSG00000214415 123 0 0 126 8 5.97015 HGF 0 genome.wustl.edu 37 7 81346652 81346652 + Missense_Mutation SNP T T A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 7 81346652 81346652 T A SNP HGF ENST00000222390 human ensembl 74_37 -1 known missense c.1301 p.K434M 1.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGF HGNC ENSG00000019991 113 0 0 89 20 18.3486 RUNDC3B 0 genome.wustl.edu 37 7 87329803 87329803 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 7 87329803 87329803 G A SNP RUNDC3B ENST00000338056 human ensembl 74_37 +1 known missense c.356 p.R119Q 1.000 pfam_Run,pfscan_Run pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC3B HGNC ENSG00000105784 73 0 0 33 18 35.2941 SAMD9L 0 genome.wustl.edu 37 7 92760776 92760776 + Silent SNP T T A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 7 92760776 92760776 T A SNP SAMD9L ENST00000318238 human ensembl 74_37 -1 known silent c.4509 p.T1503 0.006 NULL superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 143 0 0 80 44 35.4839 SPDYE3 0 genome.wustl.edu 37 7 99909534 99909534 + Nonsense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 7 99909534 99909534 C T SNP SPDYE3 ENST00000332397 human ensembl 74_37 +1 known nonsense c.706 p.R236* 0.003 NULL pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYE3 HGNC ENSG00000214300 46 0 0 37 18 32.7273 SPAG1 0 genome.wustl.edu 37 8 101195650 101195650 + Silent SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 8 101195650 101195650 C T SNP SPAG1 ENST00000251809 human ensembl 74_37 +1 known silent c.474 p.Y158 0.998 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SPAG1 HGNC ENSG00000104450 53 0 0 32 6 15.7895 CSMD3 0 genome.wustl.edu 37 8 113353899 113353899 + Silent SNP A A G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 8 113353899 113353899 A G SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known silent c.6459 p.F2153 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 41 0 0 39 8 17.0213 XPO7 0 genome.wustl.edu 37 8 21837641 21837641 + Missense_Mutation SNP T T G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 8 21837641 21837641 T G SNP XPO7 ENST00000434536 human ensembl 74_37 +1 known missense c.911 p.F304C 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO7 HGNC ENSG00000130227 9 0 0 9 8 47.0588 NUDT18 0 genome.wustl.edu 37 8 21965689 21965689 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 8 21965689 21965689 G A SNP NUDT18 ENST00000309188 human ensembl 74_37 -1 known missense c.331 p.R111W 1.000 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase - no_errors NUDT18 HGNC ENSG00000173566 16 0 0 10 9 47.3684 POLR3D 0 genome.wustl.edu 37 8 22105684 22105684 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 8 22105684 22105684 G A SNP POLR3D ENST00000397802 human ensembl 74_37 +1 known missense c.379 p.V127M 0.989 NULL pfam_RPC4 - no_errors POLR3D HGNC ENSG00000168495 93 0 0 74 57 43.5115 NEFM 0 genome.wustl.edu 37 8 24772237 24772237 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 8 24772237 24772237 C T SNP NEFM ENST00000221166 human ensembl 74_37 +1 known missense c.931 p.R311C 1.000 pfam_IF pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I - no_errors NEFM HGNC ENSG00000104722 34 0 0 51 6 10.5263 GGH 0 genome.wustl.edu 37 8 63942754 63942754 + Missense_Mutation SNP A A T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 8 63942754 63942754 A T SNP GGH ENST00000260118 human ensembl 74_37 -1 known missense c.247 p.Y83N 0.994 pfam_Peptidase_C26,pfam_GATASE pfam_Peptidase_C26,pfam_GATASE - no_errors GGH HGNC ENSG00000137563 74 0 0 66 8 10.8108 TTPA 0 genome.wustl.edu 37 8 63978606 63978606 + Silent SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 8 63978606 63978606 G A SNP TTPA ENST00000260116 human ensembl 74_37 -1 known silent c.409 p.L137 1.000 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors TTPA HGNC ENSG00000137561 47 0 0 51 16 23.8806 C8orf34 0 genome.wustl.edu 37 8 69728144 69728144 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 8 69728144 69728144 G A SNP C8orf34 ENST00000518698 human ensembl 74_37 +1 known missense c.1573 p.V525I 1.000 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C8orf34 HGNC ENSG00000165084 107 0 0 102 43 29.6552 GDAP1 0 genome.wustl.edu 37 8 75263617 75263617 + Nonsense_Mutation SNP G G T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 8 75263617 75263617 G T SNP GDAP1 ENST00000220822 human ensembl 74_37 +1 known nonsense c.226 p.E76* 1.000 pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like - no_errors GDAP1 HGNC ENSG00000104381 279 0 0 312 61 16.3539 ZFHX4 0 genome.wustl.edu 37 8 77763887 77763887 + Missense_Mutation SNP C C A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 8 77763887 77763887 C A SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.4730 p.S1577Y 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 31 0 0 42 5 10.6383 GDF6 0 genome.wustl.edu 37 8 97156922 97156922 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 8 97156922 97156922 C T SNP GDF6 ENST00000287020 human ensembl 74_37 -1 known missense c.1237 p.G413S 1.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF6 HGNC ENSG00000156466 35 0 0 49 15 23.4375 FOXE1 0 genome.wustl.edu 37 9 100616626 100616626 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 9 100616626 100616626 C T SNP FOXE1 ENST00000375123 human ensembl 74_37 +1 known missense c.430 p.R144C 1.000 pfam_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXE1 HGNC ENSG00000178919 35 0 0 38 11 22.449 TGFBR1 0 genome.wustl.edu 37 9 101907101 101907101 + Missense_Mutation SNP T T C TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 9 101907101 101907101 T C SNP TGFBR1 ENST00000374994 human ensembl 74_37 +1 known missense c.1061 p.L354P 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,superfamily_Quinolinate_PRibosylTrfase_C,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TGFBR1 HGNC ENSG00000106799 88 0 0 38 6 13.6364 TLR4 0 genome.wustl.edu 37 9 120475713 120475713 + Missense_Mutation SNP A A G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 9 120475713 120475713 A G SNP TLR4 ENST00000355622 human ensembl 74_37 +1 known missense c.1307 p.Q436R 0.000 pirsf_Toll-like_receptor,smart_Leu-rich_rpt_typical-subtyp pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR4 HGNC ENSG00000136869 116 0 0 21 40 65.5738 MPDZ 0 genome.wustl.edu 37 9 13119520 13119520 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 9 13119520 13119520 G A SNP MPDZ ENST00000319217 human ensembl 74_37 -1 known missense c.5360 p.A1787V 0.995 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 110 0 0 113 8 6.61157 SPATA31A6 0 genome.wustl.edu 37 9 43629308 43629308 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 9 43629308 43629308 G A SNP SPATA31A6 ENST00000332857 human ensembl 74_37 -1 known missense c.202 p.R68W 0.000 NULL NULL - no_errors SPATA31A6 HGNC ENSG00000185775 229 0 0 192 14 6.79612 CEP78 0 genome.wustl.edu 37 9 80851395 80851395 + Silent SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 9 80851395 80851395 G A SNP CEP78 ENST00000376597 human ensembl 74_37 +1 known silent c.129 p.L43 0.999 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors CEP78 HGNC ENSG00000148019 15 0 0 12 4 25 NXF4 0 genome.wustl.edu 37 X 101823347 101823347 + RNA SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb X 101823347 101823347 C T SNP NXF4 ENST00000360035 human ensembl 74_37 +1 known rna NULL NULL 0.910 - - - no_errors NXF4 HGNC ENSG00000196970 15 0 0 13 3 18.75 DCX 0 genome.wustl.edu 37 X 110574005 110574005 + RNA SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb X 110574005 110574005 C T SNP DCX ENST00000496551 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DCX HGNC ENSG00000077279 71 0 0 35 32 47.7612 FGF13 0 genome.wustl.edu 37 X 137717619 137717619 + Silent SNP T T C TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb X 137717619 137717619 T C SNP FGF13 ENST00000370603 human ensembl 74_37 -1 known silent c.630 p.K210 1.000 superfamily_Cytokine_IL1-like pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam,prints_Fibroblast_GF_fam - no_errors FGF13 HGNC ENSG00000129682 157 0 0 53 65 55.0847 FMR1 0 genome.wustl.edu 37 X 147011748 147011748 + Silent SNP T T G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb X 147011748 147011748 T G SNP FMR1 ENST00000370475 human ensembl 74_37 +1 known silent c.615 p.A205 0.998 NULL pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FMR1 HGNC ENSG00000102081 129 0 0 62 22 26.1905 MXRA5 0 genome.wustl.edu 37 X 3235214 3235214 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb X 3235214 3235214 C T SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known missense c.6508 p.A2170T 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 29 0 0 11 6 35.2941 CXorf22 0 genome.wustl.edu 37 X 36007614 36007614 + Missense_Mutation SNP T T G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb X 36007614 36007614 T G SNP CXorf22 ENST00000297866 human ensembl 74_37 +1 known missense c.2892 p.F964L 0.000 NULL superfamily_PapD-like - no_errors CXorf22 HGNC ENSG00000165164 77 0 0 33 3 8.33333 WNK3 0 genome.wustl.edu 37 X 54328235 54328235 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb X 54328235 54328235 C T SNP WNK3 ENST00000354646 human ensembl 74_37 -1 known missense c.1147 p.E383K 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK3 HGNC ENSG00000196632 60 0 0 21 5 19.2308 NLGN4X 0 genome.wustl.edu 37 X 5821835 5821835 + Missense_Mutation SNP T T G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb X 5821835 5821835 T G SNP NLGN4X ENST00000381093 human ensembl 74_37 -1 known missense c.944 p.K315T 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 115 0 0 47 26 35.6164 PHKA1 0 genome.wustl.edu 37 X 71864212 71864212 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb X 71864212 71864212 C T SNP PHKA1 ENST00000373539 human ensembl 74_37 -1 known missense c.1459 p.G487R 0.999 pfam_Glyco_hydro_15 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA1 HGNC ENSG00000067177 36 0 0 28 3 9.67742 TXNIP 0 genome.wustl.edu 37 1 145438717 145438718 + RNA INS - - G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 1 145438717 145438718 - G INS TXNIP ENST00000475171 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors TXNIP HGNC ENSG00000117289 37 0 0 28 15 34.8837 PIK3R3 0 genome.wustl.edu 37 1 46509408 46509410 + In_Frame_Del DEL GTT GTT - TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 GTT GTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 1 46509408 46509410 GTT - DEL PIK3R3 ENST00000540385 human ensembl 74_37 -1 known in_frame_del c.1461_1459 p.N487in_frame_del 1.000:1.000:1.000 pfscan_SH2 pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R3 HGNC ENSG00000117461 91 0 0 42 13 23.6364 ENSG00000257434 0 genome.wustl.edu 37 12 75435987 75435987 + RNA DEL T T - TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 12 75435987 75435987 T - DEL ENSG00000257434 ENST00000547040 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors RP11-81K13.1 Clone_based_vega_gene ENSG00000257434 12 0 0 4 3 42.8571 ARHGAP5 0 genome.wustl.edu 37 14 32561145 32561149 + Frame_Shift_Del DEL GAGAA GAGAA - TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 GAGAA GAGAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 14 32561145 32561149 GAGAA - DEL ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known frame_shift_del c.1270_1274 p.K425fs 1.000:1.000:1.000:1.000:1.000 superfamily_FF_domain pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 128 0 0 41 36 46.7532 FAM177A1 0 genome.wustl.edu 37 14 35550228 35550230 + In_Frame_Del DEL GAA GAA - TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 14 35550228 35550230 GAA - DEL FAM177A1 ENST00000280987 human ensembl 74_37 +1 known in_frame_del c.505_507 p.E172in_frame_del 1.000:0.996:0.975 NULL NULL - no_errors FAM177A1 HGNC ENSG00000151327 22 0 0 16 3 15.7895 TP53 0 genome.wustl.edu 37 17 7579381 7579381 + Frame_Shift_Del DEL G G - TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 17 7579381 7579381 G - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_del c.306 p.Y103fs 0.304 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 97 0 0 48 50 51.0204 DZANK1 0 genome.wustl.edu 37 20 18414185 18414186 + RNA INS - - A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 20 18414185 18414186 - A INS DZANK1 ENST00000460891 human ensembl 74_37 -1 known rna NULL NULL 0.008:0.014 - - - no_errors DZANK1 HGNC ENSG00000089091 8 0 0 17 3 15 PTGER4 0 genome.wustl.edu 37 5 40692448 40692465 + In_Frame_Del DEL GAAACACTGAACTTATCA GAAACACTGAACTTATCA - TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 GAAACACTGAACTTATCA GAAACACTGAACTTATCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 5 40692448 40692465 GAAACACTGAACTTATCA - DEL PTGER4 ENST00000302472 human ensembl 74_37 +1 known in_frame_del c.1435_1452 p.TLNLSE480in_frame_del 1.000:1.000:1.000:0.999:0.993:0.322:0.935:0.997:1.000:1.000:1.000:1.000:1.000:1.000:0.974:1.000:1.000:0.995 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt - no_errors PTGER4 HGNC ENSG00000171522 98 0 0 58 5 7.93651 REV3L 0 genome.wustl.edu 37 6 111693903 111693904 + Frame_Shift_Ins INS - - G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 6 111693903 111693904 - G INS REV3L ENST00000358835 human ensembl 74_37 -1 known frame_shift_ins c.5655_5654 p.S1886fs 1.000:1.000 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 218 0 0 144 31 17.7143 SVEP1 0 genome.wustl.edu 37 9 113194198 113194199 + Frame_Shift_Del DEL CA CA - TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb 9 113194198 113194199 CA - DEL SVEP1 ENST00000401783 human ensembl 74_37 -1 known frame_shift_del c.5350_5349 p.A1784fs 1.000:1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 55 0 0 23 37 61.6667 IL9R 0 genome.wustl.edu 37 X 155239799 155239801 + In_Frame_Del DEL AGC AGC - TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 AGC AGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb X 155239799 155239801 AGC - DEL IL9R ENST00000244174 human ensembl 74_37 +1 known in_frame_del c.1291_1293 p.S434in_frame_del 0.000:0.001:0.001 NULL superfamily_Fibronectin_type3 - no_errors IL9R HGNC ENSG00000124334 34 0 0 23 3 11.5385