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 ABCC6P1 0 genome.wustl.edu 37 16 18586150 18586150 + R SNP A A T TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b 16 18586150 18586150 A T SNP ABCC6P1 ENST00000546162 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ABCC6P1 HGNC ENSG00000256340 tier1 - - 41 0 0.00 57 40 41.24 51 0 0.00 36 21 36.84 DIP2B 0 genome.wustl.edu 37 12 51126229 51126229 + Silent SNP C C T TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b 12 51126229 51126229 C T SNP DIP2B ENST00000301180 human ensembl 74_37 +1 known silent c.3891 p.S1297 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2B HGNC ENSG00000066084 tier1 - - 47 0 0.00 766 111 12.64 88 0 0.00 851 133 13.46 TCEB3 0 genome.wustl.edu 37 1 24078271 24078271 + Silent SNP G G A TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b 1 24078271 24078271 G A SNP TCEB3 ENST00000418390 human ensembl 74_37 +1 known silent c.1254 p.E418 0.942 NULL pfam_R_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom - no_errors TCEB3 HGNC ENSG00000011007 tier1 - - 24 0 0.00 20 8 28.57 190 1 0.52 90 32 26.23 TTN 0 genome.wustl.edu 37 2 179641959 179641959 + Silent SNP G G A TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b 2 179641959 179641959 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.4731 p.V1577 1.000 pfam_Ig_I-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 tier1 - - 37 0 0.00 37 16 30.19 141 0 0.00 59 36 37.89 OR8K3 0 genome.wustl.edu 37 11 56085826 56085826 + Missense_Mutation SNP C C T TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b 11 56085826 56085826 C T SNP OR8K3 ENST00000312711 human ensembl 74_37 +1 known missense c.44 p.T15M 0.330 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8K3 HGNC ENSG00000181689 tier1 rs149952066 - 34 0 0.00 14 18 56.25 108 0 0.00 11 29 72.50 DCAF8L2 0 genome.wustl.edu 37 X 27766740 27766740 + Silent SNP C C T TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b X 27766740 27766740 C T SNP DCAF8L2 ENST00000451261 human ensembl 74_37 +1 known silent c.1728 p.D576 0.031 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L2 HGNC ENSG00000189186 tier1 - - 20 0 0.00 16 8 32.00 52 0 0.00 37 21 36.21 LRP1B 0 genome.wustl.edu 37 2 141625271 141625271 + Silent SNP G G C TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b 2 141625271 141625271 G C SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known silent c.4467 p.T1489 0.996 smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 66 0 0.00 59 53 47.32 110 0 0.00 57 35 37.63 AP3D1 0 genome.wustl.edu 37 19 2129123 2129123 + Missense_Mutation SNP T T C TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b 19 2129123 2129123 T C SNP AP3D1 ENST00000355272 human ensembl 74_37 -1 known missense c.772 p.K258E 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu - no_errors AP3D1 HGNC ENSG00000065000 tier1 - - 41 0 0.00 67 55 45.08 54 0 0.00 36 44 55.00 ANK3 0 genome.wustl.edu 37 10 62021640 62021640 + Missense_Mutation SNP C C A TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b 10 62021640 62021640 C A SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.775 p.A259S 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 tier1 - - 35 0 0.00 25 8 24.24 76 0 0.00 35 9 20.45 SCAR22 0 genome.wustl.edu 37 4 1976385 1976385 + R SNP C C T TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b 4 1976385 1976385 C T SNP SCAR22 ENST00000503991 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SCAR22 HGNC ENSG00000249784 tier1 - - 48 0 0.00 99 23 18.85 59 0 0.00 48 11 18.64 FBN3 0 genome.wustl.edu 37 19 8171060 8171060 + Missense_Mutation SNP G G A TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b 19 8171060 8171060 G A SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known missense c.4745 p.T1582M 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 tier1 - - 23 0 0.00 33 14 29.79 74 0 0.00 41 31 43.06 WHSC1 0 genome.wustl.edu 37 4 1977056 1977056 + Silent SNP C C T TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b 4 1977056 1977056 C T SNP WHSC1 ENST00000382891 human ensembl 74_37 +1 known silent c.3550 p.L1184 0.936 smart_SET_dom,pfscan_SET_dom pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_box_dom - no_errors WHSC1 HGNC ENSG00000109685 tier1 - - 56 0 0.00 84 16 16.00 138 0 0.00 93 21 18.26 SYNE1 0 genome.wustl.edu 37 6 152485354 152485354 + Missense_Mutation SNP T T C TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b 6 152485354 152485354 T C SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.23734 p.I7912V 0.997 pfam_Spectrin_repeat,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 51 0 0.00 69 22 24.18 72 0 0.00 32 8 19.51 PA2G4 0 genome.wustl.edu 37 12 56501332 56501332 + Missense_Mutation SNP G G A TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b 12 56501332 56501332 G A SNP PA2G4 ENST00000303305 human ensembl 74_37 +1 known missense c.421 p.D141N 1.000 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pap_1 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pap_1 - no_errors PA2G4 HGNC ENSG00000170515 tier1 - - 38 0 0.00 42 69 62.16 35 0 0.00 23 43 65.15 CLEC1A 0 genome.wustl.edu 37 12 10228209 10228209 + Missense_Mutation SNP T T C TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b 12 10228209 10228209 T C SNP CLEC1A ENST00000315330 human ensembl 74_37 -1 known missense c.437 p.D146G 0.978 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC1A HGNC ENSG00000150048 tier1 - - 29 0 0.00 16 9 36.00 117 0 0.00 18 41 69.49 ZNF443 0 genome.wustl.edu 37 19 12541977 12541977 + Missense_Mutation SNP A A G TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b 19 12541977 12541977 A G SNP ZNF443 ENST00000301547 human ensembl 74_37 -1 known missense c.1009 p.Y337H 0.156 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF443 HGNC ENSG00000180855 tier1 - - 84 0 0.00 185 58 23.87 116 0 0.00 111 28 20.14 MAP1A 0 genome.wustl.edu 37 15 43815590 43815590 + Missense_Mutation SNP C C T TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b 15 43815590 43815590 C T SNP MAP1A ENST00000399453 human ensembl 74_37 +1 known missense c.1919 p.A640V 0.668 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 tier1 - - 19 0 0.00 13 11 45.83 112 0 0.00 66 33 33.00 DOCK2 0 genome.wustl.edu 37 5 169494557 169494557 + Missense_Mutation SNP C C T TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b 5 169494557 169494557 C T SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.4511 p.T1504M 0.003 pfam_DOCK_C pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 tier1 rs201320169 GMAF=0.0005 51 0 0.00 60 24 28.57 126 0 0.00 59 31 34.44 MYLK3 0 genome.wustl.edu 37 16 46766264 46766264 + Missense_Mutation SNP C C A TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b 16 46766264 46766264 C A SNP MYLK3 ENST00000394809 human ensembl 74_37 -1 known missense c.1318 p.V440F 0.000 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 MYLK3 HGNC ENSG00000140795 tier1 - - 36 0 0.00 66 22 25.00 14 0 0.00 14 3 17.65 NUP188 0 genome.wustl.edu 37 9 131730948 131730948 + Missense_Mutation SNP A A G TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b 9 131730948 131730948 A G SNP NUP188 ENST00000372577 human ensembl 74_37 +1 known missense c.749 p.N250S 1.000 pfam_Nucleoporin_Nup188 pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 tier1 - - 29 0 0.00 27 19 41.30 163 0 0.00 116 46 28.40 LY75 0 genome.wustl.edu 37 2 160721358 160721358 + Missense_Mutation SNP G G A TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b 2 160721358 160721358 G A SNP LY75 ENST00000554112 human ensembl 74_37 -1 known missense c.2191 p.R731C 0.019 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors LY75 HGNC ENSG00000054219 tier1 - - 49 0 0.00 63 7 10.00 167 0 0.00 91 28 23.33 ZC3H12C 0 genome.wustl.edu 37 11 110035683 110035683 + Missense_Mutation SNP G G A TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b 11 110035683 110035683 G A SNP ZC3H12C ENST00000278590 human ensembl 74_37 +1 known missense c.1873 p.D625N 0.995 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12C HGNC ENSG00000149289 tier1 - - 31 0 0.00 8 8 50.00 68 0 0.00 12 12 50.00 MYO5B 0 genome.wustl.edu 37 18 47431107 47431107 + Missense_Mutation SNP G G A TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b 18 47431107 47431107 G A SNP MYO5B ENST00000285039 human ensembl 74_37 -1 known missense c.2506 p.R836C 0.002 pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5B HGNC ENSG00000167306 tier1 - - 67 0 0.00 47 41 46.59 53 0 0.00 27 31 53.45 FLRT2 0 genome.wustl.edu 37 14 86089224 86089224 + Missense_Mutation SNP A A C TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b 14 86089224 86089224 A C SNP FLRT2 ENST00000330753 human ensembl 74_37 +1 known missense c.1366 p.K456Q 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 tier1 - - 27 0 0.00 9 6 40.00 73 0 0.00 25 7 21.88 OCM2 0 genome.wustl.edu 37 7 97616381 97616381 + Silent SNP T T G TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b 7 97616381 97616381 T G SNP OCM2 ENST00000257627 human ensembl 74_37 -1 known silent c.282 p.G94 0.997 smart_EF_hand_dom,pfscan_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors OCM2 HGNC ENSG00000135175 tier1 - - 73 0 0.00 53 31 36.90 86 0 0.00 46 21 31.34 RBAK 0 genome.wustl.edu 37 7 5103562 5103562 + Missense_Mutation SNP A A G TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b 7 5103562 5103562 A G SNP RBAK ENST00000353796 human ensembl 74_37 +1 known missense c.475 p.R159G 0.016 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors RBAK HGNC ENSG00000146587 tier1 - - 41 0 0.00 57 10 14.93 99 0 0.00 51 20 28.17 MAPK6 0 genome.wustl.edu 37 15 52356317 52356317 + Missense_Mutation SNP A A T TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b 15 52356317 52356317 A T SNP MAPK6 ENST00000261845 human ensembl 74_37 +1 known missense c.1286 p.D429V 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,prints_MAPK_ERK3/4 - no_errors MAPK6 HGNC ENSG00000069956 tier1 - - 53 0 0.00 27 45 62.50 30 0 0.00 10 12 54.55 TMEM57 0 genome.wustl.edu 37 1 25773365 25773365 + Missense_Mutation SNP G G T TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b 1 25773365 25773365 G T SNP TMEM57 ENST00000374343 human ensembl 74_37 +1 known missense c.193 p.V65F 1.000 pfam_Macoilin pfam_Macoilin,superfamily_Prefoldin - no_errors TMEM57 HGNC ENSG00000204178 tier1 - - 47 0 0.00 57 16 21.92 74 0 0.00 44 9 16.98 CDH7 0 genome.wustl.edu 37 18 63489324 63489324 + Silent SNP C C A TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b 18 63489324 63489324 C A SNP CDH7 ENST00000323011 human ensembl 74_37 +1 known silent c.633 p.I211 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC ENSG00000081138 tier1 - - 35 0 0.00 27 10 27.03 98 0 0.00 35 10 22.22 TRAK1 0 genome.wustl.edu 37 3 42265243 42265243 + R SNP G G A TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b 3 42265243 42265243 G A SNP TRAK1 ENST00000487159 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TRAK1 HGNC ENSG00000182606 tier1 - - 11 0 0.00 22 11 33.33 98 0 0.00 41 30 42.25 GPRIN1 0 genome.wustl.edu 37 5 176026016 176026016 + Missense_Mutation SNP C C T TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b 5 176026016 176026016 C T SNP GPRIN1 ENST00000303991 human ensembl 74_37 -1 known missense c.820 p.A274T 0.000 NULL NULL - no_errors GPRIN1 HGNC ENSG00000169258 tier1 - - 63 0 0.00 24 38 61.29 133 0 0.00 14 75 84.27 PAPD7 0 genome.wustl.edu 37 5 6753031 6753031 + Missense_Mutation SNP C C G TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b 5 6753031 6753031 C G SNP PAPD7 ENST00000230859 human ensembl 74_37 +1 known missense c.1315 p.P439A 0.978 NULL pfam_PAP_assoc,pfam_Nucleotidyltransferase - no_errors PAPD7 HGNC ENSG00000112941 tier1 - - 54 0 0.00 98 25 20.33 113 0 0.00 144 37 20.33 DPP6 0 genome.wustl.edu 37 7 154598776 154598776 + Silent SNP C C T TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b 7 154598776 154598776 C T SNP DPP6 ENST00000377770 human ensembl 74_37 +1 known silent c.1620 p.S540 0.841 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC ENSG00000130226 tier1 - - 17 0 0.00 23 6 20.69 61 0 0.00 33 9 21.43 AFP 0 genome.wustl.edu 37 4 74303891 74303891 + Silent SNP G G C TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b 4 74303891 74303891 G C SNP AFP ENST00000395792 human ensembl 74_37 +1 known silent c.138 p.L46 1.000 pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin/AFP pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin/AFP,prints_Alpha-fetoprotein,prints_ALB/AFP/VDB - no_errors AFP HGNC ENSG00000081051 tier1 - - 25 0 0.00 37 15 28.85 141 0 0.00 84 23 21.50 ITSN1 0 genome.wustl.edu 37 21 35195916 35195916 + Missense_Mutation SNP G G A TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b 21 35195916 35195916 G A SNP ITSN1 ENST00000381285 human ensembl 74_37 +1 known missense c.3142 p.G1048R 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,superfamily_P-loop_NTPase,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN1 HGNC ENSG00000205726 tier1 - - 69 0 0.00 80 48 37.50 120 0 0.00 62 51 45.13 GP6 0 genome.wustl.edu 37 19 55530046 55530046 + Nonsense_Mutation SNP G G C TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b 19 55530046 55530046 G C SNP GP6 ENST00000310373 human ensembl 74_37 -1 known nonsense c.698 p.S233* 0.000 NULL smart_Ig_sub,smart_Ig_sub2 - no_errors GP6 HGNC ENSG00000088053 tier1 - - 40 0 0.00 49 18 26.87 79 0 0.00 79 16 16.84 TNS3 0 genome.wustl.edu 37 7 47385934 47385934 + Frame_Shift_Del DEL G G - TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b 7 47385934 47385934 G - DEL TNS3 ENST00000311160 human ensembl 74_37 -1 known frame_shift_del c.2302 p.L768fs 0.000 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 tier1 21 0 0.00 13 7 35.00 24 0 0.00 16 6 27.27 PA2G4 0 genome.wustl.edu 37 12 56501326 56501327 + Frame_Shift_Del DEL AA AA - TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 AA AA AA - AA AA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b 12 56501326 56501327 AA - DEL PA2G4 ENST00000303305 human ensembl 74_37 +1 known frame_shift_del c.415_416 p.K139fs 1.000:1.000 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pap_1 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pap_1 - no_errors PA2G4 HGNC ENSG00000170515 tier1 37 0 0.00 64 69 51.88 37 0 0.00 35 43 55.13 ENSG00000244327 0 genome.wustl.edu 37 3 142184164 142184164 + R DEL A A - TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b 3 142184164 142184164 A - DEL ENSG00000244327 ENST00000460977 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-383G6.3 Clone_based_vega_gene ENSG00000244327 tier1 29 0 0.00 17 3 15.00 29 0 0.00 22 4 15.38 PA2G4 0 genome.wustl.edu 37 12 56501329 56501330 + Frame_Shift_Ins INS - - C TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 - - - C - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b 12 56501329 56501330 - C INS PA2G4 ENST00000303305 human ensembl 74_37 +1 known frame_shift_ins c.418_419 p.D141fs 1.000:1.000 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pap_1 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pap_1 - no_errors PA2G4 HGNC ENSG00000170515 tier1 35 0 0.00 45 69 60.53 37 0 0.00 26 43 62.32 PRPS1 0 genome.wustl.edu 37 X 106884290 106884299 + Frame_Shift_Del DEL GAAGACTGCA GAAGACTGCA - TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 GAAGACTGCA GAAGACTGCA GAAGACTGCA - GAAGACTGCA GAAGACTGCA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b X 106884290 106884299 GAAGACTGCA - DEL PRPS1 ENST00000372419 human ensembl 74_37 +1 known frame_shift_del c.465_474 p.K156fs 0.007:0.002:0.001:0.000:0.000:0.000:0.000:0.000:0.080:0.156 NULL tigrfam_Rib-P_diPkinase - no_errors PRPS1 HGNC ENSG00000147224 tier1 43 0 0.00 22 15 40.54 43 0 0.00 22 15 40.54 DACH2 0 genome.wustl.edu 37 X 85769347 85769347 + Missense_Mutation SNP C C T TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b X 85769347 85769347 C T SNP DACH2 ENST00000373125 human ensembl 74_37 +1 known missense c.593 p.T198I 1.000 NULL pfam_Transform_Ski,superfamily_D-bd_dom_put - no_errors DACH2 HGNC ENSG00000126733 tier1 - - 18 0 0.00 5 21 80.77 39 0 0.00 5 27 84.38 FGF13 0 genome.wustl.edu 37 X 137717813 137717813 + Missense_Mutation SNP G G T TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b X 137717813 137717813 G T SNP FGF13 ENST00000370603 human ensembl 74_37 -1 known missense c.436 p.L146I 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam 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 tier1 - - 21 0 0.00 6 5 41.67 58 0 0.00 4 2 28.57 PRB3 0 genome.wustl.edu 37 12 11420585 11420585 + Missense_Mutation SNP G G A TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b 12 11420585 11420585 G A SNP PRB3 ENST00000381842 human ensembl 74_37 -1 known missense c.598 p.R200C 0.000 NULL NULL - no_errors PRB3 HGNC ENSG00000197870 tier1 - - 46 0 0.00 64 11 14.67 43 0 0.00 9 5 35.71 RPL41 0 genome.wustl.edu 37 12 56511286 56511286 + Missense_Mutation SNP A A T TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b 12 56511286 56511286 A T SNP RPL41 ENST00000501597 human ensembl 74_37 +1 known missense c.56 p.K19M 1.000 pfam_Ribosomal_L41 pfam_Ribosomal_L41 - no_errors RPL41 HGNC ENSG00000229117 tier1 - - 51 0 0.00 18 48 72.73 26 0 0.00 5 16 76.19 TMEM150B 0 genome.wustl.edu 37 19 55824327 55824327 + Missense_Mutation SNP A A C TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b 19 55824327 55824327 A C SNP TMEM150B ENST00000326652 human ensembl 74_37 -1 known missense c.602 p.V201G 0.808 pfam_Frag1/DRAM/Sfk1 pfam_Frag1/DRAM/Sfk1 - no_errors TMEM150B HGNC ENSG00000180061 tier1 - - 44 0 0.00 60 55 47.41 15 0 0.00 9 4 30.77 AHCTF1 0 genome.wustl.edu 37 1 247051817 247051817 + Missense_Mutation SNP C C T TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b 1 247051817 247051817 C T SNP AHCTF1 ENST00000326225 human ensembl 74_37 -1 known missense c.2174 p.G725E 1.000 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors AHCTF1 HGNC ENSG00000153207 tier1 - - 29 0 0.00 26 6 18.75 71 0 0.00 46 5 9.80 FGF13 0 genome.wustl.edu 37 X 137717812 137717861 + Frame_Shift_Del DEL AGTTCCTGCAACAAAAGTAAATAAACAAAAGTTCAGTGTTTATAGCTATG AGTTCCTGCAACAAAAGTAAATAAACAAAAGTTCAGTGTTTATAGCTATG - TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 AGTTCCTGCAACAAAAGTAAATAAACAAAAGTTCAGTGTTTATAGCTATG AGTTCCTGCAACAAAAGTAAATAAACAAAAGTTCAGTGTTTATAGCTATG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b X 137717812 137717861 AGTTCCTGCAACAAAAGTAAATAAACAAAAGTTCAGTGTTTATAGCTATG - DEL FGF13 ENST00000370603 human ensembl 74_37 -1 known frame_shift_del c.437_433 p.E145fs 1.000:1.000:1.000:1.000:1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam 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 tier1 58 0 0.00 8 1 11.11 58 0 0.00 8 1 11.11 OR5H1 0 genome.wustl.edu 37 3 97852060 97852060 + Silent SNP A A T TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b 3 97852060 97852060 A T SNP OR5H1 ENST00000354565 human ensembl 74_37 +1 known silent c.519 p.I173 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H1 HGNC ENSG00000231192 tier1 - - 54 0 0.00 36 13 26.53 22 0 0.00 4 0 0.00 ENSG00000196096 0 genome.wustl.edu 37 2 214142637 214142638 + R INS - - CTTCACGGCAGCC TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b 2 214142637 214142638 - CTTCACGGCAGCC INS ENSG00000196096 ENST00000360083 human ensembl 74_37 -1 known rna NULL NULL 0.005:0.003 - - - no_errors AC079610.2 Clone_based_vega_gene ENSG00000196096 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 TUBB2B 0 genome.wustl.edu 37 6 3225580 3225580 + Missense_Mutation SNP G G A TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63db50d6-5ef2-44d0-9906-26eae74ecf44 02de8a64-bd6d-46da-9fc5-81d2a543e25b 6 3225580 3225580 G A SNP TUBB2B ENST00000259818 human ensembl 74_37 -1 known missense c.743 p.A248V 1.000 superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Gamma_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB2B HGNC ENSG00000137285 tier1 - - 17 0 0.00 28 7 20.00 0 0 0.00 0 0 0.00