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 dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val ANKK1 0 genome.wustl.edu 37 11 113270544 113270544 + Missense_Mutation SNP A A T TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 11 113270544 113270544 A T SNP ANKK1 ENST00000303941 human ensembl 74_37 +1 known missense c.1853 p.N618I 0.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors ANKK1 HGNC ENSG00000170209 tier1 - - 24 0 0.00 20 7 25.93 43 0 0.00 28 17 37.78 PCLO 0 genome.wustl.edu 37 7 82579403 82579403 + Missense_Mutation SNP T T G TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 7 82579403 82579403 T G SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.10501 p.M3501L 0.406 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 57 0 0.00 49 18 26.87 91 0 0.00 73 10 12.05 DH10 0 genome.wustl.edu 37 12 124341717 124341717 + Missense_Mutation SNP C C T TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 12 124341717 124341717 C T SNP DH10 ENST00000409039 human ensembl 74_37 +1 known missense c.6199 p.R2067C 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DH10 HGNC ENSG00000197653 tier1 - - 124 0 0.00 130 24 15.58 79 0 0.00 70 15 17.65 ZBTB44 0 genome.wustl.edu 37 11 130103271 130103271 + Missense_Mutation SNP A A G TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 11 130103271 130103271 A G SNP ZBTB44 ENST00000357899 human ensembl 74_37 -1 known missense c.1693 p.S565P 0.178 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB44 HGNC ENSG00000196323 tier1 - - 114 0 0.00 81 15 15.62 56 0 0.00 30 9 23.08 DCLK3 0 genome.wustl.edu 37 3 36779370 36779370 + Missense_Mutation SNP T T C TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 3 36779370 36779370 T C SNP DCLK3 ENST00000416516 human ensembl 74_37 -1 known missense c.781 p.K261E 0.193 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 DCLK3 HGNC ENSG00000163673 tier1 - - 47 0 0.00 38 6 13.64 78 0 0.00 77 24 23.76 LOC253044 0 genome.wustl.edu 37 15 77934287 77934287 + R SNP G G A TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 15 77934287 77934287 G A SNP LOC253044 ENST00000558691 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-307C19.3 Clone_based_vega_gene ENSG00000259666 tier1 - - 43 0 0.00 36 7 16.28 93 1 1.06 70 8 10.26 LOC101927060 0 genome.wustl.edu 37 17 45095748 45095748 + R SNP C C A TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 17 45095748 45095748 C A SNP LOC101927060 ENST00000575173 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-156P1.3 Clone_based_vega_gene ENSG00000262879 tier1 - - 208 0 0.00 156 21 11.86 59 0 0.00 51 6 10.34 CECR2 0 genome.wustl.edu 37 22 18020346 18020346 + Missense_Mutation SNP C C T TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 22 18020346 18020346 C T SNP CECR2 ENST00000400573 human ensembl 74_37 +1 novel missense c.1675 p.R559C 0.152 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 tier1 - - 38 0 0.00 21 13 38.24 59 0 0.00 35 18 33.96 FANCB 0 genome.wustl.edu 37 X 14882869 14882869 + Missense_Mutation SNP G G A TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa X 14882869 14882869 G A SNP FANCB ENST00000324138 human ensembl 74_37 -1 known missense c.764 p.S255F 1.000 NULL NULL - no_errors FANCB HGNC ENSG00000181544 tier1 - - 40 0 0.00 37 7 15.56 79 0 0.00 63 13 17.11 PPARGC1B 0 genome.wustl.edu 37 5 149216579 149216579 + Nonsense_Mutation SNP C C G TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 5 149216579 149216579 C G SNP PPARGC1B ENST00000309241 human ensembl 74_37 +1 known nonsense c.2561 p.S854* 0.998 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1B HGNC ENSG00000155846 tier1 - - 43 0 0.00 25 9 26.47 24 0 0.00 11 9 45.00 PADI3 0 genome.wustl.edu 37 1 17588628 17588628 + Missense_Mutation SNP G G T TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 1 17588628 17588628 G T SNP PADI3 ENST00000375460 human ensembl 74_37 +1 known missense c.274 p.V92F 1.000 pfam_PAD_N,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI3 HGNC ENSG00000142619 tier1 - - 41 0 0.00 32 12 27.27 75 0 0.00 41 20 32.79 TSSK1B 0 genome.wustl.edu 37 5 112769636 112769636 + Missense_Mutation SNP C C T TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 5 112769636 112769636 C T SNP TSSK1B ENST00000390666 human ensembl 74_37 -1 known missense c.901 p.E301K 0.590 superfamily_Kinase-like_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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TSSK1B HGNC ENSG00000212122 tier1 - - 33 0 0.00 25 6 19.35 76 0 0.00 33 12 26.67 KCNK9 0 genome.wustl.edu 37 8 140631178 140631178 + Missense_Mutation SNP G G C TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 8 140631178 140631178 G C SNP KCNK9 ENST00000303015 human ensembl 74_37 -1 known missense c.448 p.R150G 1.000 pirsf_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK,prints_KCNK9,prints_2pore_dom_K_chnl - no_errors KCNK9 HGNC ENSG00000169427 tier1 - - 55 0 0.00 29 6 17.14 33 0 0.00 29 6 17.14 LRRC30 0 genome.wustl.edu 37 18 7231229 7231229 + Silent SNP C C T TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 18 7231229 7231229 C T SNP LRRC30 ENST00000383467 human ensembl 74_37 +1 known silent c.93 p.D31 0.033 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC30 HGNC ENSG00000206422 tier1 - - 33 0 0.00 13 5 27.78 86 0 0.00 53 21 28.38 MPPED1 0 genome.wustl.edu 37 22 43831030 43831030 + Silent SNP A A C TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 22 43831030 43831030 A C SNP MPPED1 ENST00000538182 human ensembl 74_37 +1 known silent c.400 p.R134 0.921 NULL pfam_PEstase_dom - no_errors MPPED1 HGNC ENSG00000186732 tier1 - - 83 0 0.00 31 51 62.20 55 0 0.00 43 72 62.61 GLIPR1L2 0 genome.wustl.edu 37 12 75824639 75824639 + Missense_Mutation SNP C C T TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 12 75824639 75824639 C T SNP GLIPR1L2 ENST00000550916 human ensembl 74_37 +1 known missense c.733 p.R245W 1.000 NULL pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors GLIPR1L2 HGNC ENSG00000180481 tier1 - - 140 0 0.00 87 27 23.68 83 0 0.00 83 26 23.85 ACO1 0 genome.wustl.edu 37 9 32418329 32418329 + Missense_Mutation SNP G G A TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 9 32418329 32418329 G A SNP ACO1 ENST00000309951 human ensembl 74_37 +1 known missense c.478 p.G160S 1.000 pfam_Acoase/IPM_deHydtase_lsu_aba,superfamily_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 - no_errors ACO1 HGNC ENSG00000122729 tier1 - - 143 0 0.00 78 20 20.20 125 0 0.00 96 22 18.64 PRKG1 0 genome.wustl.edu 37 10 52834636 52834636 + Missense_Mutation SNP C C A TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 10 52834636 52834636 C A SNP PRKG1 ENST00000373980 human ensembl 74_37 +1 known missense c.286 p.L96M 1.000 pirsf_cGMP-dependent_protein_kinase,superfamily_cNMP-bd-like pirsf_cGMP-dependent_protein_kinase,pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom - no_errors PRKG1 HGNC ENSG00000185532 tier1 - - 107 0 0.00 53 23 30.26 38 0 0.00 21 13 38.24 C2orf44 0 genome.wustl.edu 37 2 24262326 24262326 + Silent SNP C C G TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 2 24262326 24262326 C G SNP C2orf44 ENST00000295148 human ensembl 74_37 -1 known silent c.39 p.L13 0.998 NULL NULL - no_errors C2orf44 HGNC ENSG00000163026 tier1 - - 34 0 0.00 18 8 30.77 113 0 0.00 64 22 25.58 EEA1 0 genome.wustl.edu 37 12 93196420 93196420 + Missense_Mutation SNP T T G TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 12 93196420 93196420 T G SNP EEA1 ENST00000322349 human ensembl 74_37 -1 known missense c.2430 p.K810N 0.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors EEA1 HGNC ENSG00000102189 tier1 - - 25 0 0.00 22 9 29.03 28 0 0.00 67 21 23.86 FOCAD 0 genome.wustl.edu 37 9 20789525 20789525 + Missense_Mutation SNP A A C TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 9 20789525 20789525 A C SNP FOCAD ENST00000338382 human ensembl 74_37 +1 known missense c.1373 p.H458P 0.999 NULL pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC ENSG00000188352 tier1 - - 48 0 0.00 30 12 28.57 110 0 0.00 47 21 30.88 SEZ6L2 0 genome.wustl.edu 37 16 29906619 29906619 + Missense_Mutation SNP G G A TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 16 29906619 29906619 G A SNP SEZ6L2 ENST00000308713 human ensembl 74_37 -1 known missense c.814 p.R272W 0.746 superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Sushi_SCR_CCP,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6L2 HGNC ENSG00000174938 tier1 - - 76 0 0.00 52 13 20.00 56 0 0.00 46 14 23.33 CPAMD8 0 genome.wustl.edu 37 19 17088328 17088328 + Silent SNP A A T TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 19 17088328 17088328 A T SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known silent c.1749 p.A583 0.155 pfam_A2M_N_2 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 tier1 - - 40 0 0.00 15 5 25.00 16 0 0.00 14 9 39.13 MYOCD 0 genome.wustl.edu 37 17 12666808 12666808 + Missense_Mutation SNP A A T TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 17 12666808 12666808 A T SNP MYOCD ENST00000425538 human ensembl 74_37 +1 known missense c.2808 p.E936D 0.998 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MYOCD HGNC ENSG00000141052 tier1 - - 43 0 0.00 34 5 12.82 63 0 0.00 60 8 11.76 PTPRT 0 genome.wustl.edu 37 20 40735528 40735528 + Silent SNP G G A TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 20 40735528 40735528 G A SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known silent c.3345 p.A1115 0.998 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 tier1 - - 67 0 0.00 41 16 28.07 60 0 0.00 39 20 33.33 OR2G2 0 genome.wustl.edu 37 1 247752530 247752530 + Missense_Mutation SNP C C A TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 1 247752530 247752530 C A SNP OR2G2 ENST00000320065 human ensembl 74_37 +1 known missense c.869 p.P290H 0.989 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G2 HGNC ENSG00000177489 tier1 - - 93 0 0.00 43 16 27.12 102 0 0.00 64 29 31.18 C6orf165 0 genome.wustl.edu 37 6 88120317 88120317 + Silent SNP C C G TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 6 88120317 88120317 C G SNP C6orf165 ENST00000369562 human ensembl 74_37 +1 known silent c.123 p.V41 0.863 NULL pfam_DUF3508 - no_errors C6ORF165 Uniprot_gn ENSG00000272514 tier1 - - 93 0 0.00 57 23 28.75 114 0 0.00 119 48 28.74 COX16 0 genome.wustl.edu 37 14 70795938 70795938 + Missense_Mutation SNP C C T TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 14 70795938 70795938 C T SNP COX16 ENST00000389912 human ensembl 74_37 -1 known missense c.157 p.E53K 0.998 NULL NULL - no_errors COX16 HGNC ENSG00000133983 tier1 - - 37 0 0.00 28 8 22.22 42 0 0.00 62 12 16.22 C12orf55 0 genome.wustl.edu 37 12 97045392 97045392 + Missense_Mutation SNP G G T TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 12 97045392 97045392 G T SNP C12orf55 ENST00000524981 human ensembl 74_37 +1 putative missense c.4899 p.W1633C 1.000 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 tier1 - - 225 0 0.00 159 34 17.62 146 0 0.00 188 29 13.36 ATRX 0 genome.wustl.edu 37 X 76939959 76939959 + Nonsense_Mutation SNP C C T TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa X 76939959 76939959 C T SNP ATRX ENST00000373344 human ensembl 74_37 -1 known nonsense c.789 p.W263* 1.000 superfamily_Znf_FYVE_PHD pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 tier1 - - 119 0 0.00 38 26 40.62 118 0 0.00 83 37 30.83 MYT1L 0 genome.wustl.edu 37 2 1947094 1947094 + Nonsense_Mutation SNP A A T TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 2 1947094 1947094 A T SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known nonsense c.165 p.C55* 0.997 pfam_Znf_C2HC pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 tier1 - - 71 0 0.00 36 22 37.93 57 0 0.00 23 18 43.90 MLIP 0 genome.wustl.edu 37 6 54002429 54002429 + Missense_Mutation SNP T T G TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 6 54002429 54002429 T G SNP MLIP ENST00000502396 human ensembl 74_37 +1 putative missense c.1562 p.M521R 0.001 NULL NULL - no_errors MLIP HGNC ENSG00000146147 tier1 - - 20 0 0.00 15 4 21.05 43 0 0.00 55 8 12.70 UNC93B1 0 genome.wustl.edu 37 11 67764078 67764078 + Missense_Mutation SNP C C T TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 11 67764078 67764078 C T SNP UNC93B1 ENST00000227471 human ensembl 74_37 -1 known missense c.1081 p.A361T 0.773 NULL pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93B1 HGNC ENSG00000110057 tier1 - - 20 0 0.00 12 6 33.33 102 0 0.00 72 15 17.24 OR51S1 0 genome.wustl.edu 37 11 4869965 4869965 + Silent SNP A A G TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 11 4869965 4869965 A G SNP OR51S1 ENST00000322101 human ensembl 74_37 -1 known silent c.474 p.F158 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51S1 HGNC ENSG00000176922 tier1 - - 33 0 0.00 27 7 20.00 94 0 0.00 45 18 27.69 GBP4 0 genome.wustl.edu 37 1 89660991 89660991 + Missense_Mutation SNP C C T TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 1 89660991 89660991 C T SNP GBP4 ENST00000355754 human ensembl 74_37 -1 known missense c.352 p.D118N 0.997 pfam_Guanylate-bd_N,superfamily_P-loop_NTPase pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP4 HGNC ENSG00000162654 tier1 - - 70 0 0.00 42 28 40.00 127 0 0.00 81 13 13.83 LPL 0 genome.wustl.edu 37 8 19819651 19819651 + Missense_Mutation SNP G G C TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 8 19819651 19819651 G C SNP LPL ENST00000311322 human ensembl 74_37 +1 known missense c.1348 p.V450L 0.140 pirsf_Lipoprotein_lipase_LIPH,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_Lipo_Lipase,pfscan_PLAT/LH2_dom,tigrfam_Lipo_Lipase pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_Lipo_Lipase,prints_Lipase,pfscan_PLAT/LH2_dom,tigrfam_Lipo_Lipase - no_errors LPL HGNC ENSG00000175445 tier1 - - 33 0 0.00 16 10 38.46 106 0 0.00 68 29 29.90 ZDHHC4 0 genome.wustl.edu 37 7 6621842 6621842 + Silent SNP A A G TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 7 6621842 6621842 A G SNP ZDHHC4 ENST00000335965 human ensembl 74_37 +1 known silent c.330 p.V110 0.630 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC4 HGNC ENSG00000136247 tier1 - - 96 0 0.00 57 24 29.63 117 0 0.00 81 22 21.36 DLX4 0 genome.wustl.edu 37 17 48050587 48050587 + Missense_Mutation SNP C C A TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 17 48050587 48050587 C A SNP DLX4 ENST00000240306 human ensembl 74_37 +1 known missense c.434 p.P145H 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors DLX4 HGNC ENSG00000108813 tier1 - - 32 0 0.00 26 13 33.33 19 0 0.00 13 3 18.75 CYP4F11 0 genome.wustl.edu 37 19 16034891 16034891 + Missense_Mutation SNP T T C TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 19 16034891 16034891 T C SNP CYP4F11 ENST00000248041 human ensembl 74_37 -1 known missense c.649 p.K217E 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-II - no_errors CYP4F11 HGNC ENSG00000171903 tier1 - - 63 0 0.00 43 9 17.31 75 0 0.00 45 7 13.46 HK2 0 genome.wustl.edu 37 2 75115175 75115175 + Missense_Mutation SNP C C G TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 2 75115175 75115175 C G SNP HK2 ENST00000290573 human ensembl 74_37 +1 known missense c.2365 p.Q789E 1.000 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK2 HGNC ENSG00000159399 tier1 - - 34 0 0.00 17 6 26.09 60 0 0.00 44 18 29.03 BEND2 0 genome.wustl.edu 37 X 18189140 18189140 + Missense_Mutation SNP A A T TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa X 18189140 18189140 A T SNP BEND2 ENST00000380033 human ensembl 74_37 -1 known missense c.2166 p.N722K 0.030 pfam_BEN_domain pfam_BEN_domain - no_errors BEND2 HGNC ENSG00000177324 tier1 - - 63 0 0.00 39 9 18.75 140 0 0.00 89 20 18.35 PIK3CA 0 genome.wustl.edu 37 3 178947220 178947220 + Missense_Mutation SNP A A G TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 3 178947220 178947220 A G SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.2656 p.K886E 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 tier1 - - 92 0 0.00 93 18 16.22 88 1 1.12 104 25 19.38 TEAD4 0 genome.wustl.edu 37 12 3121377 3121377 + Nonsense_Mutation SNP C C T TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 12 3121377 3121377 C T SNP TEAD4 ENST00000443986 human ensembl 74_37 +1 known nonsense c.268 p.R90* 0.094 smart_TEA/ATTS pfam_TEA/ATTS,smart_TEA/ATTS - no_errors TEAD4 HGNC ENSG00000197905 tier1 rs112112805 - 33 0 0.00 12 6 33.33 75 0 0.00 31 9 22.50 CELP 0 genome.wustl.edu 37 9 135961673 135961673 + R SNP T T C TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 9 135961673 135961673 T C SNP CELP ENST00000411440 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CELP HGNC ENSG00000170827 tier1 - - 21 0 0.00 27 6 18.18 53 0 0.00 40 9 18.37 MUC16 0 genome.wustl.edu 37 19 9070223 9070223 + Missense_Mutation SNP G G T TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 19 9070223 9070223 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.17223 p.H5741Q 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 183 0 0.00 122 22 15.28 93 0 0.00 66 9 12.00 KIAA1731 0 genome.wustl.edu 37 11 93456287 93456287 + Missense_Mutation SNP A A G TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 11 93456287 93456287 A G SNP KIAA1731 ENST00000411936 human ensembl 74_37 +1 known missense c.6028 p.I2010V 0.000 NULL NULL - no_errors KIAA1731 HGNC ENSG00000166004 tier1 - - 23 0 0.00 14 5 26.32 71 0 0.00 60 29 32.58 101928757 0 genome.wustl.edu 37 10 17875749 17875749 + Missense_Mutation SNP T T C TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 10 17875749 17875749 T C SNP 101928757 ENST00000457317 human ensembl 74_37 +1 known missense c.713 p.L238S 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Ricin_B_lectin,pfam_Herpes_UL45-like,superfamily_Ricin_B_lectin,superfamily_C-type_lectin_fold,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC1L1 Clone_based_vega_gene ENSG00000183748 tier1 - - 99 0 0.00 51 14 21.54 109 1 0.91 53 18 25.35 SIRT3 0 genome.wustl.edu 37 11 218993 218993 + Nonsense_Mutation SNP G G A TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 11 218993 218993 G A SNP SIRT3 ENST00000382743 human ensembl 74_37 -1 known nonsense c.1018 p.R340* 1.000 pirsf_D-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pirsf_D-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom - no_errors SIRT3 HGNC ENSG00000142082 tier1 rs199874973 - 72 0 0.00 38 8 17.39 34 0 0.00 31 8 20.51 GABRA5 0 genome.wustl.edu 37 15 27188460 27188460 + Missense_Mutation SNP G G A TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 15 27188460 27188460 G A SNP GABRA5 ENST00000335625 human ensembl 74_37 +1 known missense c.976 p.V326M 0.999 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa5_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA5 HGNC ENSG00000186297 tier1 - - 46 0 0.00 27 7 20.59 40 0 0.00 38 14 26.92 FREM2 0 genome.wustl.edu 37 13 39450410 39450410 + Missense_Mutation SNP C C A TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 13 39450410 39450410 C A SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.8435 p.T2812N 0.958 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 tier1 - - 47 0 0.00 57 9 13.64 43 0 0.00 88 24 21.43 TOP2A 0 genome.wustl.edu 37 17 38551786 38551786 + Missense_Mutation SNP T T A TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 17 38551786 38551786 T A SNP TOP2A ENST00000423485 human ensembl 74_37 -1 known missense c.3726 p.E1242D 1.000 NULL pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 - no_errors TOP2A HGNC ENSG00000131747 tier1 - - 44 0 0.00 38 10 20.83 93 0 0.00 82 15 15.46 PRSS1 0 genome.wustl.edu 37 7 142459736 142459736 + Silent SNP G G T TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 7 142459736 142459736 G T SNP PRSS1 ENST00000311737 human ensembl 74_37 +1 known silent c.312 p.L104 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS1 HGNC ENSG00000204983 tier1 - - 104 1 0.95 94 14 12.84 83 0 0.00 61 10 14.08 NEB 0 genome.wustl.edu 37 2 152521904 152521904 + Silent SNP G G A TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 2 152521904 152521904 G A SNP NEB ENST00000397345 human ensembl 74_37 -1 known silent c.5181 p.Y1727 0.000 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 tier1 rs35016946 - 257 0 0.00 137 64 31.53 86 0 0.00 35 25 41.67 MOBP 0 genome.wustl.edu 37 3 39555017 39555017 + R DEL G G - TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 3 39555017 39555017 G - DEL MOBP ENST00000479860 human ensembl 74_37 +1 known rna NULL NULL 0.091 - - - no_errors MOBP HGNC ENSG00000168314 tier1 42 0 0.00 44 6 12.00 61 0 0.00 54 19 26.03 KIAA1109 0 genome.wustl.edu 37 4 123188042 123188042 + Frame_Shift_Del DEL T T - TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 4 123188042 123188042 T - DEL KIAA1109 ENST00000264501 human ensembl 74_37 +1 known frame_shift_del c.7422 p.L2475fs 0.803 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 tier1 51 0 0.00 24 16 40.00 95 0 0.00 57 24 29.63 PROSER1 0 genome.wustl.edu 37 13 39587561 39587562 + Frame_Shift_Del DEL CA CA - TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 CA CA CA - CA CA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 13 39587561 39587562 CA - DEL PROSER1 ENST00000352251 human ensembl 74_37 -1 known frame_shift_del c.1828_1827 p.E610fs 1.000:0.992 NULL NULL - no_errors PROSER1 HGNC ENSG00000120685 tier1 97 0 0.00 100 23 18.70 107 0 0.00 167 39 18.93 EBF1 0 genome.wustl.edu 37 5 158126125 158126126 + Frame_Shift_Del DEL AG AG - TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 AG AG AG - AG AG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 5 158126125 158126126 AG - DEL EBF1 ENST00000313708 human ensembl 74_37 -1 known frame_shift_del c.1770_1769 p.P590fs 1.000:1.000 NULL pfam_IPT,superfamily_Ig_E-set,superfamily_bHLH_dom,smart_IPT - no_errors EBF1 HGNC ENSG00000164330 tier1 45 0 0.00 55 12 17.91 67 0 0.00 63 16 20.25 MRVI1 0 genome.wustl.edu 37 11 10653562 10653562 + Frame_Shift_Del DEL A A - TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 11 10653562 10653562 A - DEL MRVI1 ENST00000421747 human ensembl 74_37 -1 known frame_shift_del c.349 p.S117fs 0.990 NULL pfam_MRVI1 - no_errors MRVI1 HGNC ENSG00000072952 tier1 58 0 0.00 32 7 17.95 106 0 0.00 85 23 21.30 ADAMTS8 0 genome.wustl.edu 37 11 130275593 130275593 + Missense_Mutation SNP A A G TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 11 130275593 130275593 A G SNP ADAMTS8 ENST00000257359 human ensembl 74_37 -1 known missense c.2530 p.C844R 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS8,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS8 HGNC ENSG00000134917 tier1 - - 41 0 0.00 18 5 21.74 8 0 0.00 3 4 57.14 CDKN1A 0 genome.wustl.edu 37 6 36652002 36652002 + Missense_Mutation SNP A A C TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 6 36652002 36652002 A C SNP CDKN1A ENST00000448526 human ensembl 74_37 +1 known missense c.226 p.I76L 0.000 pfam_CDI pfam_CDI - no_errors CDKN1A HGNC ENSG00000124762 tier1 - - 55 0 0.00 37 9 19.57 20 0 0.00 7 3 30.00 SPANXC 0 genome.wustl.edu 37 X 140335820 140335820 + Missense_Mutation SNP T T A TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa X 140335820 140335820 T A SNP SPANXC ENST00000358993 human ensembl 74_37 -1 known missense c.124 p.M42L 0.004 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXC HGNC ENSG00000198573 tier1 - - 294 1 0.34 197 48 19.59 67 0 0.00 61 4 6.15 LILRB5 0 genome.wustl.edu 37 19 54758275 54758275 + Missense_Mutation SNP G G T TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 19 54758275 54758275 G T SNP LILRB5 ENST00000450632 human ensembl 74_37 -1 known missense c.1232 p.P411H 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB5 HGNC ENSG00000105609 tier1 - - 46 0 0.00 32 5 13.51 91 0 0.00 55 6 9.84 DYNC2H1 0 genome.wustl.edu 37 11 103191767 103191767 + Missense_Mutation SNP A A T TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 11 103191767 103191767 A T SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.11756 p.D3919V 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 tier1 - - 68 0 0.00 54 10 15.62 48 0 0.00 60 4 6.15 FERMT1 0 genome.wustl.edu 37 20 6096550 6096550 + Missense_Mutation SNP C C T TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 20 6096550 6096550 C T SNP FERMT1 ENST00000217289 human ensembl 74_37 -1 known missense c.293 p.R98H 1.000 smart_Band_41_domain pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT1 HGNC ENSG00000101311 tier1 rs137862671 GMAF=0.0005 39 0 0.00 23 8 25.81 85 0 0.00 65 5 7.14 LOC100996870 0 genome.wustl.edu 37 9 66468909 66468909 + R SNP G G A TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 9 66468909 66468909 G A SNP LOC100996870 ENST00000424345 human ensembl 74_37 +1 known rna NULL NULL 0.065 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 tier1 rs78672302 - 11 0 0.00 10 5 33.33 46 1 2.13 33 8 19.51 JPH3 0 genome.wustl.edu 37 16 87678395 87678395 + Missense_Mutation SNP G G A TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 16 87678395 87678395 G A SNP JPH3 ENST00000284262 human ensembl 74_37 +1 known missense c.914 p.R305H 1.000 pirsf_Junctophilin,pfam_MORN,smart_MORN pirsf_Junctophilin,pfam_MORN,smart_MORN - no_errors JPH3 HGNC ENSG00000154118 tier1 - - 79 0 0.00 27 8 22.86 7 0 0.00 4 0 0.00 SPOCK3 0 genome.wustl.edu 37 4 168155291 168155292 + Frame_Shift_Del DEL CA CA - TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 4 168155291 168155292 CA - DEL SPOCK3 ENST00000357154 human ensembl 74_37 -1 known frame_shift_del c.34_33 p.A12fs 1.000:1.000 NULL 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 SPOCK3 HGNC ENSG00000196104 tier1 59 0 0.00 23 3 11.54 8 0 0.00 5 0 0.00 MAML3 0 genome.wustl.edu 37 4 140811066 140811066 + Splice_Site SNP C C T TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 4 140811066 140811066 C T SNP MAML3 ENST00000398940 human ensembl 74_37 -1 known splice_site c.109-1 e2-1 1.000 - - - no_errors MAML3 HGNC ENSG00000196782 tier1 - - 62 0 0.00 60 6 9.09 1 0 0.00 1 0 0.00 VIM 0 genome.wustl.edu 37 10 17271377 17271377 + R SNP T T G TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 10 17271377 17271377 T G SNP VIM ENST00000478317 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors VIM HGNC ENSG00000026025 tier1 - - 22 0 0.00 5 7 58.33 3 0 0.00 0 2 100.00 PRSS16 0 genome.wustl.edu 37 6 27219026 27219026 + Missense_Mutation SNP A A T TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 6 27219026 27219026 A T SNP PRSS16 ENST00000230582 human ensembl 74_37 +1 known missense c.700 p.I234F 0.007 pfam_Peptidase_S28 pfam_Peptidase_S28 - no_errors PRSS16 HGNC ENSG00000112812 tier1 - - 69 0 0.00 47 8 14.55 59 0 0.00 33 2 5.56 ZNF608 0 genome.wustl.edu 37 5 124079849 124079849 + Silent SNP G G A TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 5 124079849 124079849 G A SNP ZNF608 ENST00000306315 human ensembl 74_37 -1 known silent c.834 p.N278 1.000 NULL NULL - no_errors ZNF608 HGNC ENSG00000168916 tier1 - - 30 0 0.00 20 4 16.67 60 0 0.00 30 3 8.82 ACO1 0 genome.wustl.edu 37 9 32419050 32419050 + Missense_Mutation SNP G G A TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 9 32419050 32419050 G A SNP ACO1 ENST00000309951 human ensembl 74_37 +1 known missense c.673 p.E225K 1.000 pfam_Acoase/IPM_deHydtase_lsu_aba,superfamily_Acoase/IPM_deHydtase_lsu_aba,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 - no_errors ACO1 HGNC ENSG00000122729 tier1 - - 61 0 0.00 19 6 24.00 57 0 0.00 21 2 8.70 ADRA2B 0 genome.wustl.edu 37 2 96781300 96781300 + Missense_Mutation SNP G G T TCGA-HB-A2OT-01A-11D-A21Q-09 TCGA-HB-A2OT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9b94fd39-a2ed-4f84-a977-ee5190378c1f fda78838-677d-481c-9ac5-e17e40a974aa 2 96781300 96781300 G T SNP ADRA2B ENST00000409345 human ensembl 74_37 -1 known missense c.589 p.L197M 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ADR_fam pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2B_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA2B HGNC ENSG00000222040 tier1 - - 23 0 0.00 14 7 33.33 71 0 0.00 56 3 5.08